@prefix rdf: . @prefix owl: . @prefix rdfs: . @prefix xml: . @prefix xsd: . a owl:Ontology; owl:versionIRI ; 1.0; "Olamidipupo AJigboye"; "None"; """Copyright [2019] EMBL - European Bioinformatics Institute Licensed under the Apache License, Version 2.0 (the \"License\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \"AS IS\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License."""; "European Joint Programme (EJP) for Rare Disease Catalogs"; "www.apache.org/licenses/LICENSE-2.0" . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty; "dipo" . a owl:AnnotationProperty; "Olamidipupo Ajigboye" . a owl:AnnotationProperty; "dipo" . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty, owl:ObjectProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:ObjectProperty . a owl:ObjectProperty . a owl:ObjectProperty; rdfs:subPropertyOf ; "dipo"; rdfs:label "has attribute"@en . a owl:ObjectProperty; "dipo" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:domain ; "dipo"; rdfs:label "has creator"@en . a owl:ObjectProperty; owl:inverseOf ; rdfs:domain _:2d00d; "dipo" . _:2d00d a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:ObjectProperty; owl:inverseOf ; "dipo" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:domain ; "dipo"; rdfs:label "has provider"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; "dipo"; rdfs:label "has source"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "dipo"; rdfs:label "is creator of"@en . a owl:ObjectProperty; "dipo" . a owl:ObjectProperty; rdfs:subPropertyOf ; "dipo"; rdfs:label "is provider of"@en . a owl:ObjectProperty, owl:SymmetricProperty; "dipo"; "'is related to' is the top level relation in SIO"@en, "A is related to B iff there is some relation between A and B."@en; rdfs:isDefinedBy , "SIO_000001"@en; rdfs:label "is related to"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "dipo"; rdfs:label "is source of"@en . a owl:ObjectProperty; "dipo"; "SIO_001247"@en; rdfs:isDefinedBy ; rdfs:label "is transitively related to"@en . a owl:ObjectProperty; "dipo" . a owl:ObjectProperty . a owl:ObjectProperty . a owl:ObjectProperty . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "Information, represented in an information artefact (data record) that is 'understandable' by dedicated computational tools that can use the data as input or produce it as output."; "Data record"; "Data set", "Datum"; , ; rdfs:label "Data"; rdfs:seeAlso "\"http://purl.obolibrary.org/obo/IAO_0000027\"", "\"http://purl.obolibrary.org/obo/IAO_0000030\"", "http://purl.org/biotop/biotop.owl#DigitalEntity", "http://semanticscience.org/resource/SIO_000069", "http://semanticscience.org/resource/SIO_000088", "http://wsio.org/data_002", "http://www.ifomis.org/bfo/1.1/snap#Continuant", "http://www.onto-med.de/ontologies/gfo.owl#Perpetuant" . _:2d01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Data record"; rdfs:comment "EDAM does not distinguish a data record (a tool-understandable information artefact) from data or datum (its content, the tool-understandable encoding of an information)." . _:2d02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Data set"; rdfs:comment "EDAM does not distinguish the multiplicity of data, such as one data item (datum) versus a collection of data (data set)." . _:2d03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Datum"; rdfs:comment "EDAM does not distinguish the multiplicity of data, such as one data item (datum) versus a collection of data (data set)." . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "A text token, number or something else which identifies an entity, but which may not be persistent (stable) or unique (the same identifier may identify multiple things)."; "ID"; ; , , ; rdfs:label "Identifier"; rdfs:seeAlso "\"http://purl.org/dc/elements/1.1/identifier\"", "http://semanticscience.org/resource/SIO_000115", "http://wsio.org/data_005" . _:2d04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; rdfs:comment "Almost exact but limited to identifying resources." . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "An identifier that identifies a particular type of data."; "Identifier (typed)"; , , ; rdfs:comment "This concept exists only to assist EDAM maintenance and navigation in graphical browsers. It does not add semantic information. This branch provides an alternative organisation of the concepts nested under 'Accession' and 'Name'. All concepts under here are already included under 'Accession' or 'Name'."; rdfs:label "Identifier (by type of data)" . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "Name or other identifier of a molecule."; , , ; rdfs:label "Molecule identifier" . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "Identifier of a drug."; , , ; rdfs:label "Drug identifier" . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "Identifier of an entry from a database of chemicals."; "Chemical compound identifier", "Compound ID", "Small molecule identifier"; , , ; rdfs:label "Compound identifier" . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "A persistent (stable) and unique identifier, typically identifying an object (entry) from a database."; , , ; rdfs:label "Accession"; rdfs:seeAlso "http://semanticscience.org/resource/SIO_000675", "http://semanticscience.org/resource/SIO_000731" . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "Accession of a drug."; , , ; rdfs:label "Drug accession" . a owl:Class; rdfs:subClassOf , ; "beta13"; "Unique identifier of a drug conforming to the Anatomical Therapeutic Chemical (ATC) Classification System, a drug classification system controlled by the WHO Collaborating Centre for Drug Statistics Methodology (WHOCC)."; , , ; rdfs:label "ATC code" . a owl:Class; rdfs:subClassOf ; "beta12orEarlier"; "true"; "A category denoting a rather broad domain or field of interest, of study, application, work, data, or technology. Topics have no clearly defined borders between each other."; "sumo:FieldOfStudy"; , ; rdfs:label "Topic"; rdfs:seeAlso "http://bioontology.org/ontologies/ResearchArea.owl#Area_of_Research", "http://onto.eva.mpg.de/ontologies/gfo-bio.owl#Method", "http://purl.org/biotop/biotop.owl#Quality", "http://www.ifomis.org/bfo/1.1/snap#Continuant", "http://www.ifomis.org/bfo/1.1/snap#Quality", "http://www.loa-cnr.it/ontologies/DOLCE-Lite.owl#quality", "http://www.onto-med.de/ontologies/gfo.owl#Category", "http://www.onto-med.de/ontologies/gfo.owl#Perpetuant" . a owl:Class; rdfs:subClassOf ; "1.4"; "The procedures used to conduct an experiment."; "Lab techniques"; "Laboratory_techniques"; "Experiments", "Laboratory experiments"; , , ; rdfs:label "Laboratory techniques" . a owl:Class; rdfs:subClassOf ; "1.4"; "true"; "The visual representation of an object."; "Imaging"; "Diffraction experiment", "Microscopy", "Microscopy imaging"; , , ; rdfs:comment "This includes diffraction experiments that are based upon the interference of waves, typically electromagnetic waves such as X-rays or visible light, by some object being studied, typical in order to produce an image of the object or determine its structure."; rdfs:label "Imaging" . a owl:Class; rdfs:subClassOf ; "continuant"; "Continuant"; "An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts."@en; "BFO 2 Reference: Continuant entities are entities which can be sliced to yield parts only along the spatial dimension, yielding for example the parts of your table which we call its legs, its top, its nails. ‘My desk stretches from the window to the door. It has spatial parts, and can be sliced (in space) in two. With respect to time, however, a thing is a continuant.’ [60, p. 240"@en, "Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants"@en; , ; "A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002])"@en; "if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001])"@en, "if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002])"@en, "if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002])"@en; "(forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002] ", "(forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001] ", "(forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002] ", "(forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002] "; "Olamidipupo Ajigboye"; rdfs:isDefinedBy ; rdfs:label "continuant", "continuant"@en . _:2d05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002])"@en; . _:2d06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002] "; . _:2d07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001] "; . _:2d08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002] "; . _:2d09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002] "; . _:2d0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants"@en; . _:2d0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002])"@en; . _:2d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001])"@en; . _:2d0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002])"@en; . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; rdfs:label "occurrent" . a owl:Class; rdfs:subClassOf ; "ic"; "IndependentContinuant"; "a chair"@en, "a heart"@en, "a leg"@en, "a molecule"@en, "a spatial region"@en, "an atom"@en, "an orchestra."@en, "an organism"@en, "the bottom right portion of a human torso"@en, "the interior of your mouth"@en; "A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything."@en, "b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])"@en; , ; "For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])"@en, "For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002])"@en; "(forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] ", "(forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] ", "(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] "; rdfs:isDefinedBy ; rdfs:label "independent continuant"@en . _:2d0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])"@en; . _:2d0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])"@en; . _:2d10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002])"@en; . _:2d11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] "; . _:2d12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] "; . _:2d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] "; . a owl:Class; rdfs:subClassOf ; "object-aggregate"; "ObjectAggregate"; "a collection of cells in a blood biobank."@en, "a swarm of bees is an aggregate of members who are linked together through natural bonds"@en, "a symphony orchestra"@en, "an organization is an aggregate whose member parts have roles of specific types (for example in a jazz band, a chess club, a football team)"@en, "defined by fiat: the aggregate of members of an organization"@en, "defined through physical attachment: the aggregate of atoms in a lump of granite"@en, "defined through physical containment: the aggregate of molecules of carbon dioxide in a sealed container"@en, "defined via attributive delimitations such as: the patients in this hospital"@en, "the aggregate of bearings in a constant velocity axle joint"@en, "the aggregate of blood cells in your body"@en, "the nitrogen atoms in the atmosphere"@en, "the restaurants in Palo Alto"@en, "your collection of Meissen ceramic plates."@en; "An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects ", "BFO 2 Reference: object aggregates may gain and lose parts while remaining numerically identical (one and the same individual) over time. This holds both for aggregates whose membership is determined naturally (the aggregate of cells in your body) and aggregates determined by fiat (a baseball team, a congressional committee)."@en; "ISBN:978-3-938793-98-5pp124-158#Thomas Bittner and Barry Smith, 'A Theory of Granular Partitions', in K. Munn and B. Smith (eds.), Applied Ontology: An Introduction, Frankfurt/Lancaster: ontos, 2008, 125-158."; "b is an object aggregate means: b is a material entity consisting exactly of a plurality of objects as member_parts at all times at which b exists. (axiom label in BFO2 Reference: [025-004])"@en; "(forall (x) (if (ObjectAggregate x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y z) (and (Object y) (Object z) (memberPartOfAt y x t) (memberPartOfAt z x t) (not (= y z)))))) (not (exists (w t_1) (and (memberPartOfAt w x t_1) (not (Object w)))))))) // axiom label in BFO2 CLIF: [025-004] "; rdfs:isDefinedBy ; rdfs:label "object aggregate"@en . _:2d14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects "; . _:2d15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects "; . _:2d16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISBN:978-3-938793-98-5pp124-158#Thomas Bittner and Barry Smith, 'A Theory of Granular Partitions', in K. Munn and B. Smith (eds.), Applied Ontology: An Introduction, Frankfurt/Lancaster: ontos, 2008, 125-158."; . _:2d17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "b is an object aggregate means: b is a material entity consisting exactly of a plurality of objects as member_parts at all times at which b exists. (axiom label in BFO2 Reference: [025-004])"@en; . _:2d18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x) (if (ObjectAggregate x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y z) (and (Object y) (Object z) (memberPartOfAt y x t) (memberPartOfAt z x t) (not (= y z)))))) (not (exists (w t_1) (and (memberPartOfAt w x t_1) (not (Object w)))))))) // axiom label in BFO2 CLIF: [025-004] "; . a owl:Class; rdfs:subClassOf ; "material"; "MaterialEntity"; "a flame"@en, "a forest fire"@en, "a human being"@en, "a hurricane"@en, "a photon"@en, "a puff of smoke"@en, "a sea wave"@en, "a tornado"@en, "an aggregate of human beings."@en, "an energy wave"@en, "an epidemic"@en, "the undetached arm of a human being"@en; "An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time."@en; "BFO 2 Reference: Material entities (continuants) can preserve their identity even while gaining and losing material parts. Continuants are contrasted with occurrents, which unfold themselves in successive temporal parts or phases [60"@en, "BFO 2 Reference: Object, Fiat Object Part and Object Aggregate are not intended to be exhaustive of Material Entity. Users are invited to propose new subcategories of Material Entity."@en, "BFO 2 Reference: ‘Matter’ is intended to encompass both mass and energy (we will address the ontological treatment of portions of energy in a later version of BFO). A portion of matter is anything that includes elementary particles among its proper or improper parts: quarks and leptons, including electrons, as the smallest particles thus far discovered; baryons (including protons and neutrons) at a higher level of granularity; atoms and molecules at still higher levels, forming the cells, organs, organisms and other material entities studied by biologists, the portions of rock studied by geologists, the fossils studied by paleontologists, and so on.Material entities are three-dimensional entities (entities extended in three spatial dimensions), as contrasted with the processes in which they participate, which are four-dimensional entities (entities extended also along the dimension of time).According to the FMA, material entities may have immaterial entities as parts – including the entities identified below as sites; for example the interior (or ‘lumen’) of your small intestine is a part of your body. BFO 2.0 embodies a decision to follow the FMA here."@en; , ; "A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002])"@en; "Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002])"@en, "every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002])"@en; "(forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002] ", "(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002] ", "(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002] "; rdfs:isDefinedBy ; rdfs:label "material entity"@en . _:2d19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002])"@en; . _:2d1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002])"@en; . _:2d1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002])"@en; . _:2d1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002] "; . _:2d1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002] "; . _:2d1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002] "; . a owl:Class; rdfs:subClassOf ; "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]"; ; "MONDO:0000510"; "alpha Synucleinopathies", "synucleinopathy"; "Synucleinopathies", "alpha Synucleinopathies"; "DOID:0050890"; rdfs:label "synucleinopathy" . _:2d1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]"; "DOID:0050890" . _:2d20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "synucleinopathy"; rdfs:comment "preferred label from MONDO" . _:2d21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Synucleinopathies"; "DOID:0050890" . _:2d22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha Synucleinopathies"; "DOID:0050890" . a owl:Class; rdfs:subClassOf ; "UMLS:C0444868"; "human_phenotype"; "HP:0000001"; rdfs:comment "Root of all terms in the Human Phenotype Ontology."; rdfs:label "All" . a owl:Class; rdfs:subClassOf ; "The pattern in which a particular genetic trait or disorder is passed from one generation to the next."; "HP:0001453", "HP:0001461"; "UMLS:C1708511"; "Inheritance"; "human_phenotype"; "HP:0000005"; rdfs:label "Mode of inheritance" . _:2d23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The pattern in which a particular genetic trait or disorder is passed from one generation to the next."; "HPO:probinson" . a owl:Class; rdfs:subClassOf ; "A phenotypic abnormality. [ HPO:probinson ] "; "Organ abnormality"; "human_phenotype"; rdfs:comment "This is the root of the phenotypic abnormality subontology of the HPO."; rdfs:label "Phenotypic abnormality" . a owl:Class; rdfs:subClassOf ; "An abnormality of the hematopoietic system."; "ICD10:R79"; "abnormality of the hematopoietic system", "hematological abnormality"; rdfs:label "abnormality of blood and blood-forming tissues" . a owl:Class; rdfs:subClassOf ; "Any structural abnormality of erythrocytes (red-blood cells)."; "ICD10:R71", "SNOMEDCT_US:12222001", "UMLS:C0391870", "UMLS:C4020862"; "abnormality of red blood cells||Abnormality of erythrocytes"; rdfs:label "abnormal erythrocyte morphology" . a owl:Class; rdfs:subClassOf ; "metabolism abnormality"; "ICD10:E87"; rdfs:label "abnormality of metabolism/homeostasis" . a owl:Class; rdfs:subClassOf ; "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected."; "HP:0001420", "HP:0003747", "HP:0003769"; "UMLS:C1853237"; "Isolated cases", "No previous family history"; "human_phenotype"; "HP:0003745"; rdfs:label "Sporadic" . _:2d24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected."; "HPO:probinson" . _:2d25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No previous family history"; "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0002-6548-5200"; . a owl:Class; rdfs:subClassOf ; "doelkens"; "2010-12-17T06:17:22Z"; "human_phenotype"; "HP:0100508"; rdfs:label "abnormality of vitamin metabolism" . a owl:Class; rdfs:subClassOf ; "An information entity is an entity that represents information about some other entity. For example, a measurement, a clustered data set."; "James Malone"; "information"; "http://www.ebi.ac.uk/efo/EFO_0001435"; "true"; "an information content entity is an entity that is generically dependent on some artifact and stands in relation of aboutness to some entity"; "information content entity"; rdfs:label "information entity" . a owl:Class; rdfs:subClassOf , , ; , ; "blood platelet disease", "platelet disorder"; "DC:0000057", "DOID:2218", "OMIMPS:231200", "UMLS:C0005818"; "bleeding disorder, platelet-type"; "thrombocytopathy"; "MONDO:0000009"; rdfs:label "inherited bleeding disorder, platelet-type" . _:2d26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood platelet disease"; "DOID:2218" . _:2d27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "platelet disorder"; "CSP2005:0446-1413", "DOID:2218" . _:2d28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000057"; "MONDO:equivalentTo" . _:2d29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2218"; "MONDO:equivalentTo" . _:2d2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:231200"; "DC:0000057", "MONDO:equivalentTo" . _:2d2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005818"; "DOID:2218", "MONDO:equivalentTo" . _:2d2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bleeding disorder, platelet-type"; "OMIMPS:231200" . _:2d2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombocytopathy"; "DOID:2218", "MTHICD9_2006:287.1" . a owl:Class; rdfs:subClassOf ; "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response."; , ; "DC:0000094", "GARD:0009526", "ICD9:279.8", "SCTID:363009005", "UMLS:C1285186"; "genetic deficiency of early component of the classical complement pathway"; "MONDO:0000015"; ; rdfs:label "classic complement early component deficiency"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency"^^xsd:anyURI . _:2d2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response."; "PMID:22773339", "https://orcid.org/0000-0001-5208-3432" . _:2d2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000094"; "MONDO:equivalentTo" . _:2d30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009526"; "MONDO:equivalentTo" . _:2d31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.8"; "MONDO:relatedTo", "i2s" . _:2d32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363009005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:2d33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1285186"; "GARD:0009526", "MONDO:equivalentTo" . _:2d34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic deficiency of early component of the classical complement pathway"; "https://orcid.org/0000-0001-5208-3432" . _:2d35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009526" . _:2d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency"^^xsd:anyURI; "GARD:0009526" . a owl:Class; rdfs:subClassOf , , ; "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium."; , ; , , ; "DC:0000215", "GARD:0006735", "ICD10:E83.3", "MedDRA:10060873", "OMIMPS:193100", "Orphanet:437"; "hereditary hypophosphatemic rickets"; "MONDO:0000044"; , ; rdfs:label "hereditary hypophosphatemic rickets"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets"^^xsd:anyURI . _:2d37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium."; "Orphanet:437" . _:2d38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000215"; "MONDO:equivalentTo" . _:2d39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006735"; "MONDO:equivalentTo" . _:2d3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.3"; "MONDO:relatedTo", "ORDO:437/inclusion", "ORDO:437/ntbt", "Orphanet:437" . _:2d3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060873"; "ORDO:437/e", "Orphanet:437" . _:2d3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:193100"; "MONDO:cjm", "MONDO:equivalentTo" . _:2d3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:437"; "MONDO:equivalentTo" . _:2d3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hypophosphatemic rickets"; "MONDO:patterns/hereditary" . _:2d3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006735" . _:2d40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:437" . _:2d41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets"^^xsd:anyURI; "GARD:0006735" . a owl:Class; rdfs:subClassOf ; "A microphthalmia that is not part of a larger syndrome."; "DC:0000278", "OMIMPS:251600"; "microphthalmia, isolated", "nonsyndromic microphthalmia"; "MONDO:0000062"; rdfs:label "isolated microphthalmia" . _:2d42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A microphthalmia that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:2d43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000278"; "MONDO:equivalentTo" . _:2d44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:251600"; "DC:0000278", "MONDO:equivalentTo" . _:2d45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia, isolated"; "OMIMPS:251600" . _:2d46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic microphthalmia"; "MONDO:patterns/isolated" . a owl:Class; rdfs:subClassOf ; , ; "DC:0000469", "MESH:C567144", "OMIMPS:206100", "UMLS:C2673913"; "anemia, hypochromic microcytic, with iron overload"; "MONDO:0000104"; rdfs:label "anemia, hypochromic microcytic with iron overload" . _:2d47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000469"; "MONDO:equivalentTo" . _:2d48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567144"; "MONDO:equivalentTo", "MONDO:ontobio" . _:2d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:206100"; "DC:0000469", "MONDO:equivalentTo" . _:2d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2673913"; "MONDO:equivalentTo" . _:2d4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, hypochromic microcytic, with iron overload"; "OMIMPS:206100" . a owl:Class; rdfs:subClassOf ; , ; "DC:0000526", "HP:0003150", "HP:0003530", "ICD9:270.8", "SCTID:28987007", "UMLS:C0268594"; "glutaric acidemia", "glutaric aciduria"; "MONDO:0000129"; rdfs:comment "Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency"; rdfs:label "glutaric aciduria (disease)" . _:2d4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000526"; "MONDO:equivalentTo" . _:2d4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0003150"; "MONDO:equivalentTo", "MONDO:otherHierarchy", "ontobio" . _:2d4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0003530"; "MONDO:equivalentTo" . _:2d4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:2d50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:28987007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:2d51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268594"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:2d52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric acidemia"; "MONDO:cjm" . _:2d53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric aciduria"; "MONDO:ambiguous" . a owl:Class; rdfs:subClassOf ; , ; "DC:0000587", "NCIT:C4089", "UMLS:C0334108"; "multiple polyps", "polyposis"; "MONDO:0000147"; rdfs:label "polyposis" . _:2d54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000587"; "MONDO:equivalentTo" . _:2d55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4089"; "MONDO:equivalentTo", "exact-label-match" . _:2d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0334108"; "MEDGEN:kboom-pr95-c98", "MONDO:equivalentTo", "NCIT:C4089" . _:2d57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple polyps"; "NCIT:C4089" . _:2d58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyposis"; "NCIT:C4089" . a owl:Class; rdfs:subClassOf ; "DC:0000600", "OMIMPS:249270"; "MONDO:0000152"; rdfs:label "thiamine-responsive dysfunction syndrome" . _:2d59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000600"; "MONDO:equivalentTo" . _:2d5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:249270"; "DC:0000600", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A congenital cardiac defect in which two heart vessels are reversed (transposed)."; ; , , ; "DC:0000602", "ICD10:Q20.3", "ICD10:Q20.5", "MESH:D014188", "NCIT:C84742", "Orphanet:216675"; "TGA", "TGV", "complete transposition", "great vessels transposition", "transposition of great vessels", "transposition of the great vessels"; "MONDO:0000153"; ; rdfs:label "transposition of the great arteries" . _:2d5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TGV"; "Orphanet:216675" . _:2d5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complete transposition"; "Orphanet:216675" . _:2d5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "great vessels transposition"; "NCIT:C84742" . _:2d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transposition of great vessels"; "NCIT:C84742" . _:2d5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transposition of the great vessels"; "Orphanet:216675" . _:2d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:216675" . _:2d61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital cardiac defect in which two heart vessels are reversed (transposed)."; "NCIT:C84742" . _:2d62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000602"; "MONDO:equivalentTo" . _:2d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q20.3"; "ORDO:216675/btnt", "Orphanet:216675" . _:2d64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q20.5"; "ORDO:216675/btnt", "Orphanet:216675" . _:2d65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014188"; "MONDO:equivalentTo" . _:2d66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84742"; "MONDO:equivalentTo" . _:2d67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:216675"; "MONDO:equivalentTo" . _:2d68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TGA"; "Orphanet:216675" . a owl:Class; rdfs:subClassOf ; "A grouping for Huntington disease and similar diseases."; "DC:0000649"; "MONDO:0000167"; rdfs:label "Huntington disease and related disorders" . _:2d69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A grouping for Huntington disease and similar diseases."; "MONDO:cjm" . _:2d6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000649"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A hypercalcemia disease that occurs between 28 days to one year of life.."; , ; "DC:0000724", "MESH:C562999", "OMIMPS:143880", "SCTID:276645004"; "hypercalcemia disease of infancy", "infantile hypercalcemia", "infantile hypercalcemia disease", "infantile onset hypercalcemia disease"; "MONDO:0000212"; rdfs:label "hypercalcemia, infantile" . _:2d6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hypercalcemia disease that occurs between 28 days to one year of life.."; "MONDO:design_pattern" . _:2d6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000724"; "MONDO:equivalentTo" . _:2d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562999"; "MONDO:equivalentTo" . _:2d6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:143880"; "DC:0000724", "MONDO:equivalentTo" . _:2d6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:276645004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.61" . _:2d70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia disease of infancy"; "MONDO:design_pattern", "MONDO:patterns/infantile" . _:2d71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile hypercalcemia"; "MONDO:cjm" . _:2d72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile hypercalcemia disease"; "MONDO:design_pattern" . _:2d73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile onset hypercalcemia disease"; "MONDO:design_pattern", "MONDO:patterns/infantile" . a owl:Class; rdfs:subClassOf ; "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)."; ; "DOID:0050177"; "MONDO:0000275"; rdfs:comment "Editor notes: consider obsoleting"; rdfs:label "monogenic disease" . _:2d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)."; "DO:wk,ls", "DOID:0050177" . _:2d75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050177"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process."; , , ; "DOID:0050544", "HP:0003235", "SCTID:43123004", "UMLS:C4048705"; "hypermethioninemia", "inborn error of methionine catabolic process", "inborn methionine catabolic process disorder", "rare inborn error of methionine catabolic process"; "rare inborn error of methionine catabolic process"; "MONDO:0000351"; rdfs:label "disorder of methionine catabolism" . _:2d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process."; "MONDO:patterns/inborn_metabolic" . _:2d77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050544"; "MONDO:equivalentTo" . _:2d78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0003235"; "MONDO:otherHierarchy", "ontobio" . _:2d79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:43123004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:2d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4048705"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:2d7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia"; "MONDO:ambiguous" . _:2d7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of methionine catabolic process"; "MONDO:patterns/inborn_metabolic" . _:2d7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of methionine catabolic process"; "MONDO:patterns/inborn_metabolic" . _:2d7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of methionine catabolic process"; "MONDO:patterns/inborn_metabolic" . a owl:Class; rdfs:subClassOf , ; "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)."; , , , ; "DOID:0050568", "GARD:0006798", "GARD:0010726", "GARD:0012174", "MESH:C537565", "NCIT:C125598", "OMIMPS:277300", "UMLS:CN201467"; "Jarcho-Levin syndrome", "costovertebral dysplasia", "spondylocostal dysostosis", "spondylocostal dysplasia"; "SCD", "SCDO", "spondylothoracic dysostosis", "spondylothoracic dysplasia"; "MONDO:0000359"; rdfs:comment "Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations."; rdfs:label "spondylocostal dysostosis" . _:2d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)."; "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/" . _:2d80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050568"; "MONDO:equivalentTo" . _:2d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006798"; "MONDO:equivalentTo" . _:2d82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010726"; "MONDO:equivalentTo" . _:2d83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012174"; "MONDO:equivalentTo" . _:2d84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537565"; "MONDO:equivalentTo" . _:2d85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C125598"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:2d86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:277300"; "MONDO:cjm", "MONDO:equivalentTo" . _:2d87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201467"; "MONDO:equivalentTo" . _:2d88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jarcho-Levin syndrome"; "DOID:0050568", "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"; . _:2d89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "costovertebral dysplasia"; "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/" . _:2d8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondylocostal dysostosis"; "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/" . _:2d8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondylocostal dysplasia"; "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/" . _:2d8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCD"; "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/" . _:2d8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCDO"; "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/" . _:2d8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondylothoracic dysostosis"; "DOID:0050568", "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"; . _:2d8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondylothoracic dysplasia"; "DOID:0050568", "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"; . _:2d90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations."; "https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/" . a owl:Class; rdfs:subClassOf , ; "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)."; , , , ; "DOID:0050642", "HP:0004840", "MESH:C536357", "SCTID:44666001", "UMLS:C0271901"; "hypochromic microcytic anemia"; "MONDO:0000387"; rdfs:label "hypochromic microcytic anemia (disease)" . _:2d91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)."; "MONDO:cjm", "https://www.ncbi.nlm.nih.gov/books/NBK470252/" . _:2d92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050642"; "MONDO:equivalentTo" . _:2d93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0004840"; "MONDO:otherHierarchy", "ontobio" . _:2d94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536357"; "MONDO:equivalentTo", "MONDO:ontobio" . _:2d95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:44666001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/10.69" . _:2d96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271901"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:2d97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypochromic microcytic anemia"; "MONDO:ambiguous" . a owl:Class; rdfs:subClassOf ; "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep."; ; "DOID:0050701"; "electro-clinical syndrome"; "MONDO:0000411"; rdfs:label "electroclinical syndrome" . _:2d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep."; "DOID:0050701", "PMID:20196795", "http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html", "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/" . _:2d99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050701"; "MONDO:equivalentTo" . _:2d9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "electro-clinical syndrome"; "DOID:0050701" . a owl:Class; rdfs:subClassOf ; "An electroclinical syndrome with onset in infancy occurring between birth and one year of age."; ; "DOID:0050703"; "MONDO:0000413"; rdfs:label "infancy electroclinical syndrome" . _:2d9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An electroclinical syndrome with onset in infancy occurring between birth and one year of age."; "DOID:0050703", "PMID:20196795" . _:2d9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050703"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A electroclinical syndrome that occurs during childhood."; ; "DOID:0050704"; "electroclinical syndrome of childhood", "pediatric electroclinical syndrome"; "pediatric electroclinical syndrome"; "MONDO:0000414"; rdfs:label "childhood electroclinical syndrome" . _:2d9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A electroclinical syndrome that occurs during childhood."; "MONDO:design_pattern" . _:2d9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050704"; "MONDO:equivalentTo" . _:2d9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "electroclinical syndrome of childhood"; "MONDO:design_pattern", "MONDO:patterns/childhood" . _:2da0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric electroclinical syndrome"; "MONDO:design_pattern", "MONDO:patterns/childhood" . _:2da1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric electroclinical syndrome"; "MONDO:patterns/childhood" . a owl:Class; rdfs:subClassOf ; "An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process."; ; "DOID:0050721"; "inborn L-serine biosynthetic process disorder", "inborn error of L-serine biosynthetic process", "rare inborn error of L-serine biosynthetic process"; "rare inborn error of L-serine biosynthetic process"; "MONDO:0000421"; rdfs:label "inborn serine deficiency" . _:2da2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process."; "MONDO:patterns/inborn_metabolic" . _:2da3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050721"; "MONDO:equivalentTo" . _:2da4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of L-serine biosynthetic process"; "MONDO:patterns/inborn_metabolic" . _:2da5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of L-serine biosynthetic process"; "MONDO:patterns/inborn_metabolic" . _:2da6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of L-serine biosynthetic process"; "MONDO:patterns/inborn_metabolic" . a owl:Class; rdfs:subClassOf , ; "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement."; ; "cobalamin deficiency", "hypocobalaminemia"; "DOID:0050731", "EFO:0000734"; "inborn cobalamin metabolic process disorder", "inborn error of cobalamin metabolic process", "rare inborn error of cobalamin metabolic process"; "rare inborn error of cobalamin metabolic process"; "MONDO:0000424"; rdfs:label "inborn vitamin B12 deficiency (disease)" . _:2da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement."; "NCIT:C131684" . _:2da8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobalamin deficiency"; "DOID:0050731" . _:2da9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocobalaminemia"; "DOID:0050731" . _:2daad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050731"; "MONDO:equivalentTo" . _:2dabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0000734"; "MONDO:equivalentTo" . _:2dacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of cobalamin metabolic process"; "MONDO:patterns/inborn_metabolic" . _:2dadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of cobalamin metabolic process"; "MONDO:patterns/inborn_metabolic" . _:2daed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of cobalamin metabolic process"; "MONDO:patterns/inborn_metabolic" . a owl:Class; rdfs:subClassOf ; "X-linked form of disease."; , , , , , ; "DOID:0050735", "ICD9:799.89", "MESH:D040181", "NCIT:C85865", "SCTID:128430005", "UMLS:C1138434", "UMLS:C2828000"; "X-linked disease or disorder", "X-linked hereditary disease", "X-linked hereditary disorder", "X-linked inherited disease", "X-linked inherited disorder", "disease or disorder, X-linked", "disease, X-linked"; "X linked genetic diseases", "X-linked genetic disease", "X-linked genetic diseases", "disease, X-linked genetic", "diseases, X-linked genetic", "genetic disease, X-linked", "genetic diseases, X chromosome linked", "genetic diseases, X linked", "genetic diseases, X-chromosome linked"; "MONDO:0000425"; rdfs:label "X-linked disease" . _:2dafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked form of disease."; "MONDO:patterns/x_linked" . _:2db0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050735"; "MONDO:equivalentTo" . _:2db1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:799.89"; "MONDO:relatedTo", "i2s" . _:2db2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D040181"; "MONDO:equivalentTo" . _:2db3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85865"; "MONDO:equivalentTo" . _:2db4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128430005"; "MONDO:equivalentTo" . _:2db5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1138434"; "MONDO:equivalentTo" . _:2db6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2828000"; "MONDO:equivalentTo", "NCIT:C85865" . _:2db7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked disease or disorder"; "MONDO:design_pattern" . _:2db8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder, X-linked"; "MONDO:patterns/x_linked" . _:2db9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, X-linked"; "MONDO:patterns/x_linked" . _:2dbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X linked genetic diseases"; "MESH:D040181" . _:2dbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked genetic disease"; "MESH:D040181" . _:2dbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked genetic diseases"; "MESH:D040181" . _:2dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, X-linked genetic"; "MESH:D040181" . _:2dbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, X-linked genetic"; "MESH:D040181" . _:2dbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic disease, X-linked"; "MESH:D040181" . _:2dc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic diseases, X chromosome linked"; "MESH:D040181" . _:2dc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic diseases, X linked"; "MESH:D040181" . _:2dc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic diseases, X-chromosome linked"; "MESH:D040181" . a owl:Class; rdfs:subClassOf ; "Autosomal dominant form of disease."; , , ; "DOID:0050736", "ICD9:758.5", "SCTID:11164009", "UMLS:C0265385"; "autosomal dominant disease or disorder", "autosomal dominant hereditary disorder", "autosomal dominant inherited disorder", "disease or disorder, autosomal dominant", "disease, autosomal dominant"; "MONDO:0000426"; rdfs:label "autosomal dominant disease" . _:2dc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant form of disease."; "MONDO:patterns/autosomal_dominant" . _:2dc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050736"; "MONDO:equivalentTo" . _:2dc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.5"; "MONDO:relatedTo", "i2s" . _:2dc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:11164009"; "MONDO:equivalentTo" . _:2dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265385"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:2dc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant disease or disorder"; "MONDO:design_pattern" . _:2dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:2dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . a owl:Class; rdfs:subClassOf ; "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes."; , , ; "DOID:0050739", "ICD9:758.5", "SCTID:1899006", "UMLS:C0265384"; "autosomal hereditary disorder", "autosomal inherited disease", "autosomal inherited disorder"; "MONDO:0000429"; rdfs:label "autosomal genetic disease" . _:2dcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes."; "DOID:0050739", "http://ghr.nlm.nih.gov/glossary=autosomaldominant", "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns" . _:2dccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050739"; "MONDO:equivalentTo" . _:2dcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.5"; "MONDO:relatedTo", "i2s" . _:2dced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:1899006"; "MONDO:equivalentTo" . _:2dcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265384"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , , ; "A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways."; , , , , , ; "COHD:435242", "DOID:0050753", "GARD:0012060", "ICD9:334.3", "MESH:D002524", "NCIT:C82341", "Orphanet:102002", "SCTID:85102008", "UMLS:C0087012"; "ataxia", "ataxia syndrome", "spinocerebellar Degeneration"; "spinocerebellar ataxia"; "ataxia, cerebellar", "ataxias, cerebellar", "cerebellar Ataxias", "cerebellar Dysmetrias", "cerebellar dysmetria", "rare ataxia"; "MONDO:0000437"; ; rdfs:comment "In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare"; rdfs:label "cerebellar ataxia" . _:2dd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways."; "https://bestpractice.bmj.com/topics/en-gb/1097" . _:2dd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:435242"; "MONDO:equivalentTo" . _:2dd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050753"; "MONDO:equivalentTo" . _:2dd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012060"; "MONDO:equivalentTo" . _:2dd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:334.3"; "MONDO:relatedTo", "i2s" . _:2dd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002524"; "MONDO:equivalentTo", "MONDO:ontobio" . _:2dd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C82341"; "MONDO:equivalentTo" . _:2dd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:102002"; "MONDO:equivalentTo" . _:2dd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:85102008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/25.72" . _:2dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0087012"; "MONDO:equivalentTo" . _:2ddad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia"; . _:2ddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia syndrome"; "MONDO:0015142" . _:2ddcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar Degeneration"; "NCIT:C82341" . _:2dddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia, cerebellar"; "MESH:D002524" . _:2dded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxias, cerebellar"; "MESH:D002524" . _:2ddfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar Ataxias"; "MESH:D002524" . _:2de0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar Dysmetrias"; "MESH:D002524" . _:2de1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar dysmetria"; "MESH:D002524" . _:2de2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare ataxia"; "Orphanet:102002" . _:2de3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102002" . a owl:Class; rdfs:subClassOf ; "An impairment of the structure or function of the blood vessels which carry blood away from the heart."; , , , ; "DOID:0050828", "ICD9:447.8", "ICD9:447.9", "NCIT:C35317", "SCTID:359557001", "UMLS:C0852949"; "arterial disease", "arterial disorder", "arteriopathy", "artery disease", "artery disease or disorder", "disease of artery", "disease or disorder of artery", "disorder of artery"; "disorder of artery"; "MONDO:0000473"; rdfs:label "arterial disorder" . _:2de4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An impairment of the structure or function of the blood vessels which carry blood away from the heart."; "NCIT:C35317" . _:2de5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050828"; "MONDO:equivalentTo" . _:2de6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:447.8"; "linkedlifedata" . _:2de7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:447.9"; "linkedlifedata" . _:2de8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35317"; "MONDO:equivalentTo" . _:2de9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:359557001"; "MONDO:equivalentTo" . _:2dead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0852949"; "MONDO:equivalentTo", "NCIT:C35317" . _:2debd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arterial disease"; "NCIT:C35317" . _:2decd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arterial disorder"; "NCIT:C35317" . _:2dedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arteriopathy"; "NCIT:C35317" . _:2deed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "artery disease"; "MONDO:patterns/location" . _:2defd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "artery disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:2df0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of artery"; "MONDO:patterns/location_top" . _:2df1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of artery"; "MONDO:patterns/location_top" . _:2df2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of artery"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; , , , , , , , , , , , , , ; , , ; "DOID:0050835", "ICD10:G24.1", "ICD10:G24.2", "ICD9:333.6", "ICD9:333.8", "ICD9:333.89", "MESH:D004422", "SCTID:425492002"; "dystonia deformans progressiva"; "Idiopathic torsion dystonia", "Idiopathic torsion dystonias", "Oppenheim Ziehen disease", "Oppenheim-Ziehen disease", "Progressive torsion spasm", "childhood torsion disease", "dystonia 12", "dystonia deformans musculorum", "dystonia deformans progressiva", "dystonia musculorum deformans", "dystonia, Idiopathic torsion", "dystonias, Idiopathic torsion", "dystonias, torsion", "familial dystonia", "fragments of torsion dystonia", "idiopathic familial dystonia", "idiopathic non-familial dystonia", "idiopathic torsion dystonia", "spasm, Progressive torsion", "symptomatic torsion dystonia", "torsion disease of childhood", "torsion disease, childhood", "torsion dystonia", "torsion dystonia, Idiopathic", "torsion spasm, Progressive"; "MONDO:0000476"; rdfs:comment "Editor note: TODO"; rdfs:label "generalized dystonia" . _:2df3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050835"; "MONDO:equivalentTo" . _:2df4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.1"; "DOID:0050835" . _:2df5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.2"; "DOID:0050835" . _:2df6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.6"; "DOID:0050835" . _:2df7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.8"; "DOID:0050835" . _:2df8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.89"; "MONDO:relatedTo", "i2s" . _:2df9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004422"; "DOID:0050835", "MONDO:equivalentTo" . _:2dfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:425492002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.07" . _:2dfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia deformans progressiva"; "CSP2005:2057-3370", "DOID:0050835" . _:2dfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Idiopathic torsion dystonia"; "MESH:D004422" . _:2dfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Idiopathic torsion dystonias"; "MESH:D004422" . _:2dfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oppenheim Ziehen disease"; "MESH:D004422" . _:2dffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oppenheim-Ziehen disease"; "MESH:D004422" . _:2e00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Progressive torsion spasm"; "MESH:D004422" . _:2e01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "childhood torsion disease"; "MESH:D004422" . _:2e02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia 12"; "DOID:0050835" . _:2e03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia deformans musculorum"; "MESH:D004422" . _:2e04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia deformans progressiva"; "MESH:D004422" . _:2e05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia musculorum deformans"; "DOID:0050835" . _:2e06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia, Idiopathic torsion"; "MESH:D004422" . _:2e07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonias, Idiopathic torsion"; "MESH:D004422" . _:2e08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonias, torsion"; "MESH:D004422" . _:2e09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial dystonia"; "DOID:0050835" . _:2e0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fragments of torsion dystonia"; "DOID:0050835" . _:2e0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic familial dystonia"; "DOID:0050835" . _:2e0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic non-familial dystonia"; "DOID:0050835" . _:2e0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic torsion dystonia"; "DOID:0050835", "ICD9CM_2006:333.6" . _:2e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spasm, Progressive torsion"; "MESH:D004422" . _:2e0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "symptomatic torsion dystonia"; "DOID:0050835" . _:2e10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "torsion disease of childhood"; "MESH:D004422" . _:2e11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "torsion disease, childhood"; "MESH:D004422" . _:2e12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "torsion dystonia"; "MESH:D004422", "https://en.wikipedia.org/wiki/Dystonia#Generalized_dystonias" . _:2e13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "torsion dystonia, Idiopathic"; "MESH:D004422" . _:2e14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "torsion spasm, Progressive"; "MESH:D004422" . a owl:Class; rdfs:subClassOf , ; "A intellectual disability that is part of a larger syndrome."; , ; "DOID:0050888", "UMLS:CN225415"; "syndrome associated with intellectual disability", "syndromic intellectual disability"; "syndrome associated with intellectual disability"; "MONDO:0000508"; rdfs:label "syndromic intellectual disability" . _:2e15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A intellectual disability that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:2e16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050888"; "MONDO:equivalentTo" . _:2e17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN225415"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:2e18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with intellectual disability"; "MONDO:patterns/syndromic" . _:2e19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic intellectual disability"; "MONDO:patterns/syndromic" . _:2e1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with intellectual disability"; "MONDO:patterns/syndromic" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves the central nervous system."; ; "DOID:0060004"; "central nervous system autoimmune disease", "central nervous system hypersensitivity reaction type II disease"; "MONDO:0000568"; rdfs:label "autoimmune disease of central nervous system" . _:2e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hypersensitivity reaction type II disease that involves the central nervous system."; "MONDO:patterns/location" . _:2e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060004"; "MONDO:equivalentTo" . _:2e1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system autoimmune disease"; "MONDO:design_pattern", "MONDO:patterns/location" . _:2e1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system hypersensitivity reaction type II disease"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves the endocrine system."; , , ; "DOID:0060005", "ICD9:279.49", "SCTID:237822008", "UMLS:C0342552"; "endocrine system autoimmune disease", "endocrine system hypersensitivity reaction type II disease"; "MONDO:0000569"; rdfs:label "autoimmune disease of endocrine system" . _:2e1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hypersensitivity reaction type II disease that involves the endocrine system."; "MONDO:patterns/location" . _:2e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060005"; "MONDO:equivalentTo" . _:2e21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.49"; "MONDO:relatedTo", "i2s" . _:2e22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237822008"; "MONDO:equivalentTo" . _:2e23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342552"; "MONDO:equivalentTo" . _:2e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine system autoimmune disease"; "MONDO:design_pattern", "MONDO:patterns/location" . _:2e25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine system hypersensitivity reaction type II disease"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "Anemia, the cause of which is present at birth."; , , ; "NCIT:C35228", "SCTID:63565007", "UMLS:C0158995"; "congenital anemia", "congenital anemia (disease)"; "MONDO:0000577"; rdfs:label "congenital anemia" . _:2e26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anemia, the cause of which is present at birth."; "NCIT:C35228" . _:2e27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35228"; "MONDO:equivalentTo" . _:2e28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:63565007"; "MONDO:equivalentTo" . _:2e29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0158995"; "MONDO:equivalentTo" . _:2e2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anemia"; "NCIT:C35228" . _:2e2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anemia (disease)"; "MONDO:patterns/congenital" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system."; ; "DOID:0060031"; "alimentary part of gastrointestinal system autoimmune disease", "alimentary part of gastrointestinal system hypersensitivity reaction type II disease", "autoimmune disease of alimentary part of gastrointestinal system"; "MONDO:0000588"; rdfs:label "autoimmune disease of gastrointestinal tract" . _:2e2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system."; "MONDO:patterns/location" . _:2e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060031"; "MONDO:equivalentTo" . _:2e2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alimentary part of gastrointestinal system autoimmune disease"; "MONDO:design_pattern", "MONDO:patterns/location" . _:2e2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alimentary part of gastrointestinal system hypersensitivity reaction type II disease"; "MONDO:patterns/location" . _:2e30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease of alimentary part of gastrointestinal system"; "MONDO:design_pattern" . a owl:Class; rdfs:subClassOf ; "A cardiomyopathy that is due to abnormalities in heart muscle cells."; ; "DOID:0060036"; "primary cardiomyopathy"; "MONDO:0000591"; rdfs:label "intrinsic cardiomyopathy" . _:2e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cardiomyopathy that is due to abnormalities in heart muscle cells."; "https://en.wikipedia.org/wiki/Cardiomyopathy", "https://www.emedicinehealth.com/cardiomyopathy/article_em.htm" . _:2e32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060036"; "MONDO:equivalentTo" . _:2e33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary cardiomyopathy"; "https://en.wikipedia.org/wiki/Cardiomyopathy" . a owl:Class; rdfs:subClassOf , ; "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions."; , ; , , ; "DOID:0060040", "ICD9:299.80", "MESH:D002659", "NCIT:C97179"; "pervasive development disorder"; "pervasive child development disorders", "pervasive development disorders"; "MONDO:0000594"; rdfs:label "pervasive developmental disorder" . _:2e34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions."; "NCIT:C97179" . _:2e35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060040"; "MONDO:equivalentTo" . _:2e36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:299.80"; "DOID:0060040" . _:2e37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002659"; "MONDO:equivalentTo" . _:2e38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97179"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:2e39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pervasive development disorder"; "DOID:0060040" . _:2e3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pervasive child development disorders"; "MESH:D002659" . _:2e3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pervasive development disorders"; "MESH:D002659" . a owl:Class; rdfs:subClassOf ; ; , , , ; "DOID:0060062", "GARD:0000067", "MESH:C537696", "OMIMPS:162000", "SCTID:46785007", "UMLS:CN239392"; "FJHN", "familial juvenile gouty nephropathy", "familial juvenile hyperuricemic nephropathy", "familial nephropathy associated with hyperuricemia", "familial nephropathy with gout", "gouty nephropathy, familial juvenile", "juvenile gout", "juvenile gouty nephropathy", "nephropathy, familial, with gout"; "gouty nephropathy, familial"; "MONDO:0000608"; ; rdfs:label "familial juvenile hyperuricemic nephropathy" . _:2e3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060062"; "MONDO:equivalentTo" . _:2e3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000067"; "MONDO:equivalentTo" . _:2e3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537696"; "MONDO:equivalentTo" . _:2e3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:162000"; "MONDO:cjm", "MONDO:equivalentTo" . _:2e40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:46785007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.63" . _:2e41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239392"; "MONDO:equivalentTo" . _:2e42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FJHN"; "GARD:0006806" . _:2e43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial juvenile gouty nephropathy"; "GARD:0000067" . _:2e44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial juvenile hyperuricemic nephropathy"; "GARD:0000067" . _:2e45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial nephropathy associated with hyperuricemia"; "GARD:0000067" . _:2e46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial nephropathy with gout"; "GARD:0000067" . _:2e47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gouty nephropathy, familial juvenile"; "GARD:0006806" . _:2e48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "juvenile gout"; "GARD:0006806" . _:2e49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "juvenile gouty nephropathy"; "GARD:0000067" . _:2e4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy, familial, with gout"; "GARD:0006806" . _:2e4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gouty nephropathy, familial"; "GARD:0000067" . a owl:Class; rdfs:subClassOf , ; "A benign neoplasm that involves the cardiovascular system."; ; "DOID:0060091"; "cardiovascular system benign neoplasm"; "MONDO:0000629"; rdfs:label "cardiovascular organ benign neoplasm" . _:2e4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign neoplasm that involves the cardiovascular system."; "MONDO:patterns/location" . _:2e4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060091"; "MONDO:equivalentTo" . _:2e4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular system benign neoplasm"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "A benign neoplasm that involves the sense organ."; ; "DOID:0060096"; "sense organ benign neoplasm"; "MONDO:0000633"; rdfs:label "sensory organ benign neoplasm" . _:2e4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign neoplasm that involves the sense organ."; "MONDO:patterns/location" . _:2e50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060096"; "MONDO:equivalentTo" . _:2e51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sense organ benign neoplasm"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)."; , , , ; "COHD:373432", "DOID:0060115", "ICD9:225.8", "ICD9:225.9", "NCIT:C4789", "SCTID:92247009", "UMLS:C0497550"; "benign neoplasm of nervous system", "benign neoplasm of the nervous system", "benign nervous system neoplasm", "benign nervous system tumor", "benign tumor of nervous system", "benign tumor of the nervous system", "nervous system benign neoplasm", "nervous system neoplasm, benign"; "MONDO:0000648"; rdfs:label "nervous system benign neoplasm" . _:2e52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)."; "NCIT:P378" . _:2e53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:373432"; "MONDO:equivalentTo" . _:2e54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060115"; "MONDO:equivalentTo" . _:2e55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:225.8"; "MONDO:relatedTo", "i2s" . _:2e56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:225.9"; "MONDO:equivalentTo", "i2s" . _:2e57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4789"; "MONDO:equivalentTo", "exact-label-match" . _:2e58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:92247009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.71/0.37/0.22" . _:2e59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0497550"; "MONDO:equivalentTo", "NCIT:C4789" . _:2e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neoplasm of nervous system"; "NCIT:C4789" . _:2e5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neoplasm of the nervous system"; "NCIT:C4789" . _:2e5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign nervous system neoplasm"; "NCIT:C4789" . _:2e5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign nervous system tumor"; "NCIT:C4789" . _:2e5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor of nervous system"; "NCIT:C4789" . _:2e5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor of the nervous system"; "NCIT:C4789" . _:2e60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system benign neoplasm"; "MONDO:patterns/location" . _:2e61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system neoplasm, benign"; "NCIT:C4789" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the sensory system"; ; "DOID:0060116"; "cancer of sensory system", "malignant neoplasm of sensory system", "malignant sensory system neoplasm", "sensory system cancer"; "MONDO:0000649"; rdfs:label "sensory system cancer" . _:2e62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the sensory system"; "MONDO:DesignPattern" . _:2e63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060116"; "MONDO:equivalentTo" . _:2e64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of sensory system"; "MONDO:patterns/cancer" . _:2e65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of sensory system"; "MONDO:patterns/cancer" . _:2e66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant sensory system neoplasm"; "MONDO:patterns/cancer" . _:2e67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sensory system cancer"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma."; , , , , , , ; "DOID:0060118", "MESH:D013896", "NCIT:C35742", "SCTID:118946009", "SCTID:609622007", "UMLS:C0039978", "UMLS:C3661979"; "disease of thoracic segment of trunk", "disease or disorder of thoracic segment of trunk", "disorder of thoracic segment of trunk", "disorder of thorax", "thoracic disease", "thoracic disorder", "thoracic segment of trunk disease", "thoracic segment of trunk disease or disorder"; "disorder of thoracic segment of trunk"; "MONDO:0000651"; rdfs:label "thoracic disease" . _:2e68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma."; "NCIT:C35742" . _:2e69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060118"; "MONDO:equivalentTo" . _:2e6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013896"; "MONDO:equivalentTo", "MONDO:ontobio" . _:2e6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35742"; "MONDO:equivalentTo", "NCIT:C35742" . _:2e6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:118946009"; "MONDO:equivalentTo" . _:2e6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:609622007"; "MONDO:equivalentTo" . _:2e6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039978"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C35742" . _:2e6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3661979"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:2e70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of thoracic segment of trunk"; "MONDO:patterns/location_top" . _:2e71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of thoracic segment of trunk"; "MONDO:patterns/location_top" . _:2e72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic disease"; "NCIT:C35742" . _:2e73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic disorder"; "NCIT:C35742" . _:2e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic segment of trunk disease"; "MONDO:patterns/location" . _:2e75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic segment of trunk disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:2e76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of thoracic segment of trunk"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A benign neoplasm that involves the integumental system."; ; "DOID:0060121"; "integumental system benign neoplasm"; "MONDO:0000652"; rdfs:label "integumentary system benign neoplasm" . _:2e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign neoplasm that involves the integumental system."; "MONDO:patterns/location" . _:2e8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060121"; "MONDO:equivalentTo" . _:2e8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "integumental system benign neoplasm"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the integumental system"; ; "DOID:0060122"; "cancer of integumental system", "integumental system cancer", "malignant integumental system neoplasm", "malignant neoplasm of integumental system"; "MONDO:0000653"; rdfs:label "integumentary system cancer" . _:2e8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the integumental system"; "MONDO:DesignPattern" . _:2e91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060122"; "MONDO:equivalentTo" . _:2e93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of integumental system"; "MONDO:patterns/cancer" . _:2e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "integumental system cancer"; "MONDO:patterns/location" . _:2e97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant integumental system neoplasm"; "MONDO:patterns/cancer" . _:2e98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of integumental system"; "MONDO:patterns/cancer" . a owl:Class; rdfs:subClassOf ; "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway."; ; "DOID:0060176"; "MONDO:0000698"; rdfs:label "gamma-amino butyric acid metabolism disorder" . _:2e99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway."; "DOID:0060176", "PMID:12891648" . _:2e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060176"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine."; ; "ICD9:277.2", "OMIMPS:278300", "SCTID:190919008"; "MONDO:0000721"; rdfs:label "xanthinuria" . _:2e9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine."; "https://www.sciencedirect.com/topics/medicine-and-dentistry/xanthinuria" . _:2e9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.2"; "MONDO:relatedTo", "i2s" . _:2ea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:278300"; "MONDO:cjm", "MONDO:equivalentTo" . _:2ea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190919008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.06" . a owl:Class; rdfs:subClassOf ; ; "DOID:0060388"; "chromosomal deletion syndrome"; "MONDO:0000761"; rdfs:comment "Editor note: this is used in DOID to encompass typically partial deletions"; rdfs:label "syndrome caused by partial chromosomal deletion" . _:2ea7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060388"; "MONDO:equivalentTo" . _:2ea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosomal deletion syndrome"; "DOID:0060388" . a owl:Class; rdfs:subClassOf ; "A disease involving the vertebral column."; , , , ; "DOID:0060564", "ICD9:724.9", "MESH:D013122", "SCTID:699699005", "UMLS:C0037933"; "disease of spine", "disease of vertebral column", "disease or disorder of vertebral column", "disorder of vertebral column", "vertebral column disease", "vertebral column disease or disorder"; "disorder of vertebral column", "spinal disease"; "MONDO:0000812"; rdfs:label "vertebral column disease" . _:2eabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the vertebral column."; "MONDO:patterns/location_top" . _:2eacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060564"; "MONDO:equivalentTo" . _:2eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:724.9"; "linkedlifedata" . _:2eaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013122"; "MONDO:equivalentTo" . _:2eb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:699699005"; "MONDO:equivalentTo" . _:2eb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037933"; "MONDO:equivalentTo" . _:2eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of vertebral column"; "MONDO:patterns/location_top" . _:2eb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vertebral column"; "MONDO:patterns/location_top" . _:2eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vertebral column disease"; "MONDO:patterns/location" . _:2eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vertebral column disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:2eb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vertebral column"; "MONDO:patterns/location_top" . _:2eb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinal disease"; "DOID:0060564" . a owl:Class; rdfs:subClassOf ; "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus."; ; , ; "DOID:0060668", "ICD10:00.0", "NCIT:C84560"; "anencephalus"; "MONDO:0000819"; rdfs:label "anencephaly" . _:2ebad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus."; "NCIT:C84560" . _:2ebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060668"; "MONDO:equivalentTo" . _:2ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:00.0"; "DOID:0060668" . _:2ebed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84560"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.70/1.45" . _:2ec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anencephalus"; "NCIT:C84560" . a owl:Class; rdfs:subClassOf ; "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury."; ; , , , ; "DOID:0060903", "ICD9:453.9", "MESH:D013927", "NCIT:C26891", "SCTID:439127006"; "Clots, blood", "Thromboses", "blood Clots", "blood clot", "clot, blood", "thrombosis", "thrombotic disorder", "thrombus"; "MONDO:0000831"; rdfs:label "thrombotic disease" . _:2ec7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury."; "NCIT:C26891" . _:2ec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060903"; "MONDO:equivalentTo" . _:2eccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:453.9"; "MONDO:relatedTo", "i2s" . _:2ecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013927"; "MONDO:equivalentTo", "MONDO:ontobio" . _:2ed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26891"; "MONDO:equivalentTo", "exact-label-match" . _:2ed5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:439127006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:2ed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clots, blood"; "MESH:D013927" . _:2ed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Thromboses"; "MESH:D013927" . _:2ed8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood Clots"; "MESH:D013927" . _:2ed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood clot"; "MESH:D013927" . _:2edad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "clot, blood"; "MESH:D013927" . _:2edbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombosis"; "NCIT:C26891" . _:2edcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombotic disorder"; "MONDO:cjm" . _:2eddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombus"; "MESH:D013927" . a owl:Class; rdfs:subClassOf ; "A bone disease that results_in formation or resorption abnormalities located_in bone."; ; "DOID:0080005"; "MONDO:0000833"; rdfs:label "bone remodeling disease" . _:2eded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A bone disease that results_in formation or resorption abnormalities located_in bone."; "DOID:0080005", "http://en.wikipedia.org/wiki/Bone_remodeling" . _:2edfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080005"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period."; , , , , ; "DOID:0080015", "EFO:0003915", "ICD10:Q00.Q99", "ICD9:759.89", "ICD9:759.9", "MESH:D000013", "NCIT:C2849", "SCTID:276654001", "UMLS:CN232116"; "SCONG", "birth defect", "congenital Abnormality", "congenital abnormality", "congenital anatomic Abnormality", "congenital anatomical Abnormality", "congenital anomalies of fetus", "congenital anomaly", "congenital anomaly or birth defect", "congenital defect", "congenital defect/deformity", "congenital deformity", "congenital malformation", "defect/deformity, Congenital", "defect/deformity, congenital", "deformity/defect, Congenital", "physical disorder"; "CM - congenital malformation", "fetal developmental abnormality", "fetal malformation", "foetal malformation"; "MONDO:0000839"; rdfs:label "congenital abnormality" . _:2ee1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period."; "NCIT:C2849" . _:2ee3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080015"; "MONDO:equivalentTo" . _:2ee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0003915"; "MONDO:equivalentObsolete" . _:2ee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q00.Q99"; "MONDO:equivalentTo" . _:2ee8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "linkedlifedata" . _:2eead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.9"; "linkedlifedata" . _:2eecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000013"; "MONDO:equivalentTo" . _:2eedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2849"; "MONDO:equivalentTo" . _:2eeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:276654001"; "MONDO:equivalentTo" . _:2ef0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN232116"; "MONDO:equivalentTo" . _:2ef2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCONG"; "NCIT:C2849" . _:2ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "birth defect"; "NCIT:C2849" . _:2ef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital Abnormality"; "NCIT:C2849" . _:2ef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anatomic Abnormality"; "NCIT:C2849" . _:2ef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anatomical Abnormality"; "NCIT:C2849" . _:2efad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomalies of fetus"; "NCIT:C2849" . _:2efbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomaly"; "NCIT:C2849" . _:2efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomaly or birth defect"; "NCIT:C2849" . _:2efdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital defect"; "NCIT:C2849" . _:2f00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital defect/deformity"; "NCIT:C2849" . _:2f01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital deformity"; "NCIT:C2849" . _:2f04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital malformation"; "NCIT:C2849" . _:2f05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "defect/deformity, Congenital"; "NCIT:C2849" . _:2f06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "defect/deformity, congenital"; "NCIT:C2849" . _:2f07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deformity/defect, Congenital"; "NCIT:C2849" . a owl:Class; rdfs:subClassOf ; "An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone."; , ; "DOID:0080019", "ICD9:758.5", "SCTID:27837003"; "Bakwin-Krida syndrome", "Pyle's disease", "Pyle's syndrome", "Pyle-Cohn syndrome", "chondrodysplasia calcificans metaphysealis"; "MONDO:0000841"; rdfs:label "metaphyseal dysplasia" . _:2f0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone."; "DOID:0080019", "http://en.wikipedia.org/wiki/Metaphyseal_dysplasia", "http://www.healthline.com/galecontent/metaphyseal-dysplasia", "http://www.medcyclopaedia.com/library/topics/volume_iii_1/m/metaphyseal_dysplasia.aspx" . _:2f0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080019"; "MONDO:equivalentTo" . _:2f0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.5"; "MONDO:relatedTo", "i2s" . _:2f0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:27837003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.45/0.16" . _:2f10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bakwin-Krida syndrome"; "DOID:0080019", "https://en.wikipedia.org/wiki/Metaphyseal_dysplasia" . _:2f13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pyle's disease"; "DOID:0080019", "https://en.wikipedia.org/wiki/Metaphyseal_dysplasia" . _:2f14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pyle's syndrome"; "https://en.wikipedia.org/wiki/Metaphyseal_dysplasia" . _:2f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pyle-Cohn syndrome"; "DOID:0080019", "https://en.wikipedia.org/wiki/Metaphyseal_dysplasia" . _:2f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chondrodysplasia calcificans metaphysealis"; "OMIM:215050" . a owl:Class; rdfs:subClassOf ; "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis."; , , ; "DOID:0080027", "ICD9:756.9", "Orphanet:252", "SCTID:254062008"; "MONDO:0000844"; rdfs:comment "Obsolete in ORDO, consider merge with MONDO:0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia"; rdfs:label "spondyloepimetaphyseal dysplasia" . _:2f1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis."; "DOID:0080027", "http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia", "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252" . _:2f20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080027"; "MONDO:equivalentTo" . _:2f21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.9"; "MONDO:relatedTo", "i2s" . _:2f23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:252"; "MONDO:equivalentTo" . _:2f25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254062008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.70" . a owl:Class; rdfs:subClassOf ; ; "DOID:0080102"; "MONDO:0000865"; rdfs:label "congenital fiber-type disproportion" . _:2f27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080102"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine."; ; , , ; "DOID:10486", "HP:0011100", "ICD10:Q41.1", "NCIT:C84790", "UMLS:C0021828"; "atresia of the intestine", "congenital intestinal atresia", "intestinal atresia"; "MONDO:0001045"; rdfs:label "intestinal atresia (disease)" . _:2f29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine."; "NCIT:P378" . _:2f2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10486"; "MONDO:equivalentTo" . _:2f2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0011100"; "MONDO:otherHierarchy", "ontobio" . _:2f2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q41.1"; "DOID:10486" . _:2f30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84790"; "DOID:10486", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:2f31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021828"; "DOID:10486", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C84790" . _:2f32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of the intestine"; "NCIT:C84790" . _:2f33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital intestinal atresia"; "NCIT:C84790" . _:2f34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal atresia"; "MONDO:ambiguous" . a owl:Class; rdfs:subClassOf , , ; "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients."; , , ; , , , , ; ; "adult Fanconi Anemia"; "DC:0000148", "DOID:1062", "GARD:0009120", "MESH:D005198", "NCIT:C3034", "OMIMPS:134600", "SCTID:40488004", "UMLS:C0015624"; "De toni-Fanconi syndrome", "De toni-debre-Fanconi syndrome", "Fanconi renotubular syndrome", "Fanconi syndrome", "Fanconi's syndrome", "Fanconi-de toni syndrome", "Fanconi-de-toni syndrome", "Lignac-Fanconi syndrome", "deToni Fanconi syndrome"; "adult Fanconi syndrome", "congenital Fanconi syndrome"; "infantile nephropathic cystinosis", "toni-debre-Fanconi syndrome"; "MONDO:0001083"; ; rdfs:label "Fanconi syndrome"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome"^^xsd:anyURI . _:2f35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients."; "NCIT:C3034" . _:2f39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C3034" . _:2f3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adult Fanconi Anemia"; "DOID:1062" . _:2f3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000148"; "MONDO:equivalentTo" . _:2f3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1062"; "MONDO:equivalentTo" . _:2f3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009120"; "MONDO:equivalentTo" . _:2f41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005198"; "DOID:1062", "MONDO:equivalentTo" . _:2f44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3034"; "DOID:1062", "MONDO:equivalentTo" . _:2f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:134600"; "DC:0000148", "MONDO:equivalentTo" . _:2f4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:40488004"; "DOID:1062", "MONDO:equivalentTo" . _:2f4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015624"; "DOID:1062", "MONDO:equivalentTo", "NCIT:C3034" . _:2f4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "De toni-Fanconi syndrome"; "DOID:1062" . _:2f4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "De toni-debre-Fanconi syndrome"; "NCIT:C3034" . _:2f50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi renotubular syndrome"; "MONDO:0000026" . _:2f51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi syndrome"; "NCIT:C3034" . _:2f52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi's syndrome"; "NCIT:C3034" . _:2f53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi-de toni syndrome"; "DOID:1062", "MTHICD9_2006:270.0" . _:2f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi-de-toni syndrome"; "DOID:1062" . _:2f55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lignac-Fanconi syndrome"; "DOID:1062", "NCIT:C3034" . _:2f56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deToni Fanconi syndrome"; "CSP2005:1849-2203", "DOID:1062" . _:2f57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adult Fanconi syndrome"; "DOID:1062" . _:2f58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital Fanconi syndrome"; "DOID:1062" . _:2f59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile nephropathic cystinosis"; "DOID:1062" . _:2f5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "toni-debre-Fanconi syndrome"; "GARD:0009120" . _:2f5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009120" . _:2f5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome"^^xsd:anyURI; "GARD:0009120" . a owl:Class; rdfs:subClassOf ; "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."; , , , ; , , ; "COHD:381114", "DOID:10907", "GARD:0003603", "HP:0000252", "ICD10:Q02", "ICD9:742.1", "NCIT:C85874", "SCTID:1829003"; "microcephalus", "microcephaly", "microencephaly"; "MONDO:0001149"; ; rdfs:label "microcephaly (disease)" . _:2f62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."; "NCIT:P378" . _:2f63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:381114"; "MONDO:equivalentTo" . _:2f64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10907"; "MONDO:equivalentTo" . _:2f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003603"; "MONDO:equivalentTo" . _:2f67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000252"; "MONDO:otherHierarchy", "ontobio" . _:2f69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q02"; "DOID:10907" . _:2f6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:742.1"; "DOID:10907", "MONDO:equivalentTo", "i2s" . _:2f6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85874"; "DOID:10907", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:2f70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:1829003"; "DOID:10907", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/14.47" . _:2f71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephalus"; "DOID:10907", "ICD9CM_2006:742.1" . _:2f72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly"; "MONDO:ambiguous" . _:2f73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microencephaly"; "CSP2005:0723-5649", "DOID:10907" . a owl:Class; rdfs:subClassOf , ; "A disorder of the vasculature of the cornea."; , ; , , ; "DOID:10989", "ICD10:H11.41", "ICD9:372.74", "NCIT:C35116", "SCTID:74100001"; "conjunctival vascular abnormality", "conjunctival vascular disorder", "conjunctival vasculature disease", "conjunctival vasculature disease or disorder", "disease of conjunctival vasculature", "disease or disorder of conjunctival vasculature", "disorder of conjunctival vasculature", "vascular abnormalities of conjunctiva"; "disorder of conjunctival vasculature"; "MONDO:0001174"; rdfs:label "conjunctival vascular disease" . _:2fa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder of the vasculature of the cornea."; "NCIT:P378" . _:2fa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10989"; "MONDO:equivalentTo" . _:2fa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H11.41"; "DOID:10989" . _:2faad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:372.74"; "DOID:10989", "MONDO:equivalentTo", "i2s" . _:2fabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35116"; "DOID:10989", "MONDO:equivalentTo" . _:2facd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:74100001"; "DOID:10989", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.31" . _:2fadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival vascular abnormality"; "DOID:10989" . _:2fb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival vascular disorder"; "NCIT:C35116" . _:2fb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival vasculature disease"; "MONDO:patterns/location" . _:2fb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival vasculature disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:2fb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of conjunctival vasculature"; "MONDO:patterns/location_top" . _:2fbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of conjunctival vasculature"; "MONDO:patterns/location_top" . _:2fbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular abnormalities of conjunctiva"; "DOID:10989", "ICD9CM_2006:372.74" . _:2fbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of conjunctival vasculature"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Anemia in which the red blood cell volume is decreased."; , , ; , , ; "DOID:11252", "HP:0001935", "NCIT:C35141", "SCTID:234349007"; "MONDO:0001245"; rdfs:label "microcytic anemia" . _:2fc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anemia in which the red blood cell volume is decreased."; "NCIT:P378" . _:2fc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11252"; "MONDO:equivalentTo" . _:2fccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001935"; "MONDO:otherHierarchy" . _:2fced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35141"; "DOID:11252", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:2fcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234349007"; "DOID:11252", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . a owl:Class; rdfs:subClassOf , , ; "An inflammatory process that affects the choroid."; ; , , , , , , , ; "DOID:11406", "GARD:0006062", "HP:0012123", "ICD10:H30.0", "ICD10:H30.1", "ICD10:H30.2", "ICD10:H30.8", "ICD10:H30.9", "MESH:D002833", "MedDRA:10036370", "NCIT:C35111", "Orphanet:280892", "SCTID:16553002", "UMLS:C0008526", "UMLS:C0042167"; "Choroiditides", "choroiditis", "posterior uveitis", "posterior uveitis (disease)"; "MONDO:0001280"; ; rdfs:label "choroiditis" . _:2fd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inflammatory process that affects the choroid."; "NCIT:C35111" . _:2fd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11406"; "MONDO:equivalentTo" . _:2fd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006062"; "MONDO:equivalentTo", "shared-xref" . _:2fd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0012123"; "MONDO:otherHierarchy", "ontobio" . _:2fdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H30.0"; "ORDO:280892/btnt", "Orphanet:280892" . _:2fddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H30.1"; "ORDO:280892/btnt", "Orphanet:280892" . _:2fdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H30.2"; "ORDO:280892/btnt", "Orphanet:280892" . _:2fe0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H30.8"; "ORDO:280892/btnt", "Orphanet:280892" . _:2fe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H30.9"; "DOID:11406", "ORDO:280892/btnt", "Orphanet:280892" . _:2fe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002833"; "DOID:11406", "MONDO:equivalentTo" . _:2fe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036370"; "ORDO:280892/e", "Orphanet:280892" . _:2fe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35111"; "DOID:11406", "MONDO:equivalentTo" . _:2fead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:280892"; "MONDO:equivalentTo" . _:2febd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:16553002"; "DOID:11406", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.68/0.79" . _:2fecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008526"; "DOID:11406", "MONDO:equivalentTo", "Orphanet:280892" . _:2ff0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042167"; "MONDO:equivalentTo", "NCIT:C35111", "ORDO:280892/e", "Orphanet:280892" . _:2ff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Choroiditides"; "MESH:D002833" . _:2ff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "choroiditis"; "NCIT:C35111", "Orphanet:280892" . _:2ff5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "posterior uveitis"; "MONDO:ambiguous", "NCIT:C35111" . _:2ff6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "posterior uveitis (disease)"; "MONDO:0017254" . _:2ff7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280892" . a owl:Class; rdfs:subClassOf , ; "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine."; , , , ; , , , ; ; "DOID:11633", "ICD9:259.8", "MESH:D018382", "SCTID:111567006", "UMLS:CN118820"; "Refetoff syndrome", "generalized thyroid hormone resistance", "thyroid hormone resistance", "thyroid hormone resistance syndrome", "thyroid hormone responsiveness defect"; "RTH", "TSH resistance", "resistance to thyroid stimulating hormone", "resistance to thyrotropin"; "MONDO:0001328"; rdfs:label "thyroid hormone resistance syndrome" . _:2ffed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine."; "MESH:D018382-modified" . _:3000d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:11633" . _:3002d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11633"; "MONDO:equivalentTo" . _:3003d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:259.8"; "MONDO:relatedTo", "i2s" . _:3004d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018382"; "DOID:11633", "MONDO:equivalentTo" . _:3006d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:111567006"; "DOID:11633", "MONDO:equivalentTo" . _:3009d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN118820"; "MONDO:equivalentTo" . _:300cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Refetoff syndrome"; "DOID:11633" . _:300fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalized thyroid hormone resistance"; "DOID:11633" . _:3011d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid hormone resistance"; "CSP2005:2928-9974", "CSP2005:4008-0047", "DOID:11633" . _:3013d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid hormone responsiveness defect"; "DOID:11633" . _:3014d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RTH"; "doi:10.1210/jcem.84.2.5534" . a owl:Class; rdfs:subClassOf , ; "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins."; ; , , , ; "DOID:11702", "HP:0002961", "MESH:D004406", "SCTID:123782009", "UMLS:C0013374"; "dysgammaglobulinemia", "dysgammaglobulinemia (finding)"; "MONDO:0001342"; rdfs:label "dysgammaglobulinemia (disease)" . _:3018d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins."; "MESH:D004406" . _:3019d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11702"; "MONDO:equivalentTo" . _:301ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002961"; "MONDO:otherHierarchy", "ontobio" . _:301cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004406"; "DOID:11702", "MONDO:equivalentTo", "MONDO:ontobio" . _:3021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:123782009"; "DOID:11702", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013374"; "DOID:11702", "MONDO:equivalentTo" . _:302cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysgammaglobulinemia"; "MONDO:ambiguous" . _:302dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysgammaglobulinemia (finding)"; "DOID:11702" . a owl:Class; rdfs:subClassOf ; "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction."; ; , ; "DOID:11705", "ICD10:N25", "ICD9:588.8", "ICD9:588.89", "ICD9:588.9", "SCTID:197663003"; "disease of kidney", "kidney disease"; "MONDO:0001343"; rdfs:label "impaired renal function disease" . _:302fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction."; "MONDO:patterns/disease_by_dysfunctional_structure" . _:3030d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11705"; "MONDO:equivalentTo" . _:3031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25"; "MONDO:equivalentTo" . _:3032d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.8"; "DOID:11705" . _:3033d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.89"; "DOID:11705" . _:3034d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.9"; "MONDO:equivalentTo", "i2s" . _:3035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:197663003"; "MONDO:equivalentTo" . _:3036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of kidney"; "MONDO:patterns/disease_by_dysfunctional_structure" . a owl:Class; rdfs:subClassOf ; "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency."; ; , , , ; "DOID:11759", "HP:0001931", "ICD10:D50", "NCIT:C34380", "SCTID:44452003", "UMLS:C0002884"; "anemia hypochromic", "hypochromic anemia"; "MONDO:0001357"; rdfs:label "hypochromic anemia (disease)" . _:303ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency."; "NCIT:C34380" . _:303cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11759"; "MONDO:equivalentTo" . _:303fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001931"; "MONDO:otherHierarchy", "ontobio" . _:3042d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D50"; "DOID:11759" . _:3044d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34380"; "DOID:11759", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.22" . _:3046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:44452003"; "DOID:11759", "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.42/0.63" . _:3049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002884"; "DOID:11759", "MONDO:equivalentTo", "NCIT:C34380" . _:304bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia hypochromic"; "DOID:11759", "MTH:NOCODE" . _:304cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypochromic anemia"; "MONDO:ambiguous", "NCIT:C34380" . a owl:Class; rdfs:subClassOf ; "The condition in which the individual does not see far distances clearly."; ; , , , , ; "COHD:379805", "DOID:11830", "EFO:0003927", "HP:0000545", "ICD10:H52.1", "ICD9:367.1", "MESH:D009216", "OMIMPS:160700", "SCTID:57190000", "UMLS:C0027092"; "myopia", "near vision", "near-sightedness", "short-sightedness"; "MONDO:0001384"; rdfs:label "myopia (disease)" . _:3050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The condition in which the individual does not see far distances clearly."; "NCIT:P378" . _:3051d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:379805"; "MONDO:equivalentTo" . _:3053d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11830"; "MONDO:equivalentTo" . _:3054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0003927"; "DOID:11830", "MONDO:equivalentObsolete" . _:3057d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000545"; "MONDO:otherHierarchy", "ontobio" . _:305bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H52.1"; "DOID:11830", "MONDO:equivalentTo" . _:305cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:367.1"; "DOID:11830", "MONDO:equivalentTo", "i2s" . _:305ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009216"; "DOID:11830", "MONDO:equivalentTo", "MONDO:ontobio" . _:305fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:160700"; "MONDO:cjm", "MONDO:equivalentTo" . _:3060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:57190000"; "DOID:11830", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:3061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027092"; "DOID:11830", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:3063d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopia"; "MONDO:ambiguous" . _:3064d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "near vision"; "CSP2005:1116-2455", "DOID:11830" . _:3065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "near-sightedness"; "DOID:11830", "MTHICD9_2006:367.1" . _:3066d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short-sightedness"; "DOID:11830" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths."; , , , , , , ; , , , , ; "DOID:1192", "ICD9:239.2", "MESH:D010524", "NCIT:C3321", "ONCOTREE:PNS", "SCTID:126980002", "UMLS:C0031118"; "CNS-excluded nervous sys. cancer", "PNS neoplasm", "PNS neoplasms", "PNS tumor", "neoplasm of PNS", "neoplasm of peripheral nerve", "neoplasm of peripheral nervous system", "neoplasm of the PNS", "neoplasm of the peripheral nerve", "neoplasm of the peripheral nervous system", "neoplasms, PNS", "neoplasms, peripheral nervous system", "peripheral nerve neoplasm", "peripheral nerve tumor", "peripheral nervous system neoplasm", "peripheral nervous system neoplasm (disease)", "peripheral nervous system tumor", "tumor of PNS", "tumor of peripheral nerve", "tumor of peripheral nervous system", "tumor of the PNS", "tumor of the peripheral nerve", "tumor of the peripheral nervous system"; "CNS-excluded nervous sys. cancer", "CNS-excluded nervous system cancer, NOS", "nerve sheath neoplasm", "nerve sheath tumors"; "CNS-excluded nervous system cancer, NOS"; "MONDO:0001406"; rdfs:label "peripheral nervous system neoplasm" . _:3067d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths."; "NCIT:C3321" . _:3068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1192"; "MONDO:equivalentTo" . _:3069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.2"; "MONDO:relatedTo", "i2s" . _:306ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010524"; "DOID:1192", "MONDO:equivalentTo" . _:306bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3321"; "DOID:1192", "DesignPattern", "MONDO:equivalentTo" . _:306cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:PNS"; "MONDO:equivalentTo" . _:306dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126980002"; "DOID:1192", "DesignPattern", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.27" . _:306ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031118"; "DOID:1192", "MONDO:equivalentTo", "NCIT:C3321" . _:306fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS-excluded nervous sys. cancer"; "NCIT:C3321" . _:3073d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNS neoplasm"; "NCIT:C3321" . _:3075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNS neoplasms"; "NCIT:C3321" . _:3076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNS tumor"; "NCIT:C3321" . _:3078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of PNS"; "NCIT:C3321" . _:307ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of peripheral nerve"; "NCIT:C3321" . _:307cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of peripheral nervous system"; "MONDO:patterns/neoplasm", "NCIT:C3321" . _:307dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the PNS"; "NCIT:C3321" . _:3082d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the peripheral nerve"; "NCIT:C3321" . _:3083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the peripheral nervous system"; "NCIT:C3321" . _:3085d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasms, PNS"; "NCIT:C3321" . _:3087d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasms, peripheral nervous system"; "NCIT:C3321" . _:3089d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nerve neoplasm"; "NCIT:C3321" . _:308bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nerve tumor"; "NCIT:C3321" . _:308dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous system neoplasm"; "NCIT:C3321" . _:308ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous system neoplasm (disease)"; "MONDO:patterns/location" . _:3091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous system tumor"; "MONDO:patterns/neoplasm", "NCIT:C3321" . _:3093d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of PNS"; "DOID:1192", "NCIT:C3321" . _:3095d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of peripheral nerve"; "NCIT:C3321" . _:3096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of peripheral nervous system"; "MONDO:patterns/neoplasm", "NCIT:C3321" . _:3097d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the PNS"; "NCIT:C3321" . _:3099d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the peripheral nerve"; "NCIT:C3321" . _:309ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the peripheral nervous system"; "NCIT:C3321" . _:309cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS-excluded nervous sys. cancer"; "NCIT:C3321" . _:309ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS-excluded nervous system cancer, NOS"; "NCIT:C3321" . _:30a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nerve sheath neoplasm"; "CSP2005:2012-6947", "DOID:1192" . _:30a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nerve sheath tumors"; "DOID:1192" . _:30a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS-excluded nervous system cancer, NOS"; "NCIT:C3321"; . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma."; , , ; , , ; "DOID:120", "ICD10:C51.C58", "ICD10:C57", "ICD9:184", "NCIT:C4913", "SCTID:126907002"; "cancer of female reproductive organ", "female reproductive cancer", "female reproductive organ cancer", "gynecologic cancer", "malignant female reproductive organ neoplasm", "malignant female reproductive system neoplasm", "malignant female reproductive system tumor", "malignant gynecologic neoplasm", "malignant gynecologic tumor", "malignant neoplasm of female genital organ", "malignant neoplasm of female reproductive organ", "malignant neoplasm of female reproductive system", "malignant neoplasm of the female reproductive system", "malignant tumor of female reproductive system", "malignant tumor of the female reproductive system"; "female reprod. system cancer, NOS", "female reproductive system cancer, NOS"; "MONDO:0001416"; rdfs:label "female reproductive organ cancer" . _:30acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma."; "NCIT:C4913" . _:30add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:120"; "MONDO:equivalentTo" . _:30aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C51.C58"; "MONDO:equivalentTo" . _:30b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C57"; "DOID:120" . _:30b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:184"; "DOID:120" . _:30b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4913"; "DOID:120", "MONDO:equivalentTo" . _:30dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126907002"; "DOID:120", "MONDO:equivalentTo" . _:30ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of female reproductive organ"; "MONDO:patterns/cancer" . _:30dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive cancer"; "DOID:120", "NCIT:C4913" . _:30e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive organ cancer"; "MONDO:patterns/location" . _:30e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gynecologic cancer"; "NCIT:C4913" . _:30e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant female reproductive organ neoplasm"; "MONDO:patterns/cancer" . _:30e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant female reproductive system neoplasm"; "NCIT:C4913" . _:30f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant female reproductive system tumor"; "NCIT:C4913" . _:30f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant gynecologic neoplasm"; "NCIT:C4913" . _:30f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant gynecologic tumor"; "DOID:120", "NCIT:C4913" . _:30f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of female genital organ"; "DOID:120" . _:30f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of female reproductive organ"; "MONDO:patterns/cancer" . _:30fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of female reproductive system"; "NCIT:C4913" . _:30fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the female reproductive system"; "NCIT:C4913" . _:3100d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of female reproductive system"; "NCIT:C4913" . _:3101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the female reproductive system"; "NCIT:C4913" . _:3103d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reprod. system cancer, NOS"; "NCIT:C4913"; . _:3104d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system cancer, NOS"; "NCIT:C4913"; . a owl:Class; rdfs:subClassOf ; "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache."; , , , , , ; , , ; ; "COHD:434000", "DOID:12028", "ICD10:E26.0", "ICD10:E26.01", "ICD9:255.12", "NCIT:C34510", "SCTID:190507007"; "Conn syndrome", "Conn's syndrome", "primary aldosteronism", "primary hyperaldosteronism"; "MONDO:0001422"; rdfs:comment "Editor note: DOID class refers to adenoma-caused Conn syndrome"; rdfs:label "primary aldosteronism" . _:3110d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache."; "NCIT:C34510" . _:3112d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:12028" . _:3114d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434000"; "MONDO:equivalentTo" . _:3115d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12028"; "MONDO:equivalentTo" . _:3116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.0"; "DOID:12028", "MONDO:equivalentTo" . _:3118d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.01"; "DOID:12028" . _:311ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.12"; "DOID:12028", "MONDO:equivalentTo", "i2s" . _:311cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34510"; "DOID:12028", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:311dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190507007"; "DOID:12028", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:311ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Conn syndrome"; "DOID:12028", "NCIT:C34510" . _:311fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Conn's syndrome"; "MONDO:LexicalVariant", "NCIT:C34510", "doi:10.1093/jama/9780195176339.003.0016" . _:3120d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary aldosteronism"; "DOID:12028", "ICD9CM_2006:255.10", "https://en.wikipedia.org/wiki/Primary_aldosteronism" . _:3121d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hyperaldosteronism"; "DOID:12028", "NCIT:C34510" . a owl:Class; rdfs:subClassOf ; "Accumulation of iron in internal organs."; , ; , , , , ; "DOID:12119", "GARD:0006595", "MESH:D006486", "NCIT:C82892", "SCTID:39011001", "UMLS:C0019114"; "haemosiderosis"; "MONDO:0001436"; ; rdfs:label "hemosiderosis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis"^^xsd:anyURI . _:3127d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Accumulation of iron in internal organs."; "NCIT:C82892" . _:3129d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12119"; "MONDO:equivalentTo" . _:312bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006595"; "MONDO:equivalentTo" . _:312cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006486"; "DOID:12119", "MONDO:equivalentTo", "MONDO:ontobio" . _:312ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C82892"; "DOID:12119", "MONDO:equivalentTo", "NCIT:C82892" . _:3130d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:39011001"; "DOID:12119", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3131d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019114"; "DOID:12119", "MONDO:equivalentTo", "NCIT:C82892" . _:3132d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "haemosiderosis"; "DOID:12119" . _:3135d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006595" . _:3136d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis"^^xsd:anyURI; "GARD:0006595" . a owl:Class; rdfs:subClassOf ; "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever."; , , , , ; "PAP"; "COHD:435853", "DOID:12120", "ICD10:J84.01", "ICD9:516.0", "MESH:D011649", "NCIT:C85037", "Reactome:R-HSA-5683826", "SCTID:10501004", "UMLS:C0034050"; "pulmonary alveolar proteinosis"; "MONDO:0001437"; rdfs:label "pulmonary alveolar proteinosis" . _:3137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever."; "NCIT:C85037" . _:3139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAP"; "MONDO:cjm" . _:313bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:435853"; "MONDO:equivalentTo" . _:313dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12120"; "MONDO:equivalentTo" . _:313ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J84.01"; "DOID:12120" . _:3140d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:516.0"; "DOID:12120", "MONDO:equivalentTo", "i2s" . _:3143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011649"; "DOID:12120", "MONDO:equivalentTo", "MONDO:ontobio" . _:3146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85037"; "DOID:12120", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:314ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:10501004"; "DOID:12120", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:314cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0034050"; "DOID:12120", "MONDO:equivalentTo", "NCIT:C85037" . _:314dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary alveolar proteinosis"; "NCIT:C85037" . a owl:Class; rdfs:subClassOf ; "A decrease in the number of neutrophils found in the blood."; , , ; , , , ; "true"; "DOID:1227", "ICD10:D70", "ICD10:D70.9", "ICD9:288.0", "ICD9:288.00", "MESH:D009503", "SCTID:303011007", "UMLS:C0027947"; "neutropenic disorder"; "MONDO:0001475"; rdfs:label "neutropenia" . _:3152d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A decrease in the number of neutrophils found in the blood."; "MESH:D009503" . _:3157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1227"; "MONDO:equivalentTo" . _:3159d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70"; "DOID:1227", "MONDO:subClassOf" . _:315bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70.9"; "DOID:1227" . _:315dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:288.0"; "DOID:1227" . _:315fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:288.00"; "DOID:1227" . _:3162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009503"; "DOID:1227", "MONDO:equivalentTo", "MONDO:ontobio" . _:3164d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:303011007"; "DOID:1227", "MONDO:equivalentTo" . _:3165d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027947"; "DOID:1227", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "An abnormality in which a part of a structure in one or both eyes is missing."; ; , , , ; "DOID:12270", "ICD10:Q13.0", "ICD9:743.49", "MESH:D003103", "NCIT:C98877", "SCTID:93390002"; "coloboma of eye", "coloboma of the eye"; "coloboma of macula", "congenital ocular coloboma"; "MONDO:0001476"; rdfs:label "coloboma" . _:316ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An abnormality in which a part of a structure in one or both eyes is missing."; "NCIT:P378" . _:316dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12270"; "MONDO:equivalentTo" . _:316ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q13.0"; "DOID:12270" . _:316fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.49"; "MONDO:relatedTo", "i2s" . _:3170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003103"; "DOID:12270", "MONDO:equivalentTo" . _:3171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98877"; "DOID:12270", "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.66" . _:3176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:93390002"; "DOID:12270", "MONDO:equivalentTo", "MONDO:kboom-pr-0.84/0.62/0.50" . _:317ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma of eye"; "DOID:12270" . _:317cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma of the eye"; "NCIT:C98877" . _:317ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma of macula"; "DOID:12270" . _:3181d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital ocular coloboma"; "DOID:12270" . a owl:Class; rdfs:subClassOf ; "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure."; , , ; , , , ; "COHD:315831", "DOID:12326", "ICD9:416.8", "ICD9:416.9", "NCIT:C34478", "SCTID:87837008", "UMLS:C0238074"; "Cor pulmonale"; "Cor pulmonale"; "MONDO:0001493"; rdfs:label "chronic pulmonary heart disease" . _:3188d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure."; "NCIT:C34478" . _:318ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:315831"; "MONDO:equivalentTo" . _:318cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12326"; "MONDO:equivalentTo" . _:318ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:416.8"; "DOID:12326", "MONDO:relatedTo", "i2s" . _:3190d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:416.9"; "MONDO:equivalentTo", "i2s" . _:3193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34478"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.77/0.63" . _:3194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:87837008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238074"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C34478" . _:3196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cor pulmonale"; "NCIT:C34478" . _:3197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cor pulmonale"; "NCIT:C34478" . a owl:Class; rdfs:subClassOf ; "A carcinoma that arises from epithelial cells of the retroperitoneal space."; , , ; "DOID:12342", "NCIT:C7352", "UMLS:C0948749"; "carcinoma of retroperitoneal space", "carcinoma of retroperitoneum", "carcinoma of the retroperitoneum", "retroperitoneal cancer", "retroperitoneal carcinoma", "retroperitoneal space carcinoma"; "MONDO:0001502"; rdfs:label "retroperitoneum carcinoma" . _:3199d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carcinoma that arises from epithelial cells of the retroperitoneal space."; "MONDO:DesignPattern" . _:319ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12342"; "MONDO:equivalentTo" . _:319cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7352"; "DOID:12342", "MONDO:equivalentTo", "MONDO:kboom-pr-0.98/0.76/3.33" . _:319dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0948749"; "DOID:12342", "MONDO:equivalentTo", "NCIT:C7352" . _:319ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of retroperitoneal space"; "MONDO:patterns/carcinoma" . _:319fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of retroperitoneum"; "DOID:12342", "NCIT:C7352" . _:31a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the retroperitoneum"; "DOID:12342", "NCIT:C7352" . _:31a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal cancer"; "NCIT:C7352" . _:31a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal carcinoma"; "NCIT:C7352" . _:31a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal space carcinoma"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf ; "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)"; , , ; , , , ; "COHD:379020", "DOID:12397", "HP:0000621", "ICD9:374.00", "MESH:D004774", "SCTID:33168009", "UMLS:C0014390"; "entropion"; "MONDO:0001519"; rdfs:label "entropion (disease)" . _:31add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)"; "MESH:D004774" . _:31aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:379020"; "MONDO:equivalentTo" . _:31b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12397"; "MONDO:equivalentTo" . _:31b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000621"; "MONDO:otherHierarchy", "ontobio" . _:31b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:374.00"; "DOID:12397", "MONDO:equivalentTo", "i2s" . _:31b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004774"; "DOID:12397", "MONDO:equivalentTo", "MONDO:ontobio" . _:31b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:33168009"; "DOID:12397", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:31bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014390"; "DOID:12397", "MONDO:equivalentTo" . _:31bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "entropion"; "MONDO:ambiguous" . a owl:Class; rdfs:subClassOf , ; "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia."; ; , , , , ; "COHD:197253", "DOID:12554", "GARD:0006588", "ICD10:D59.3", "ICD9:283.11", "MESH:D006463", "NCIT:C75545", "OMIMPS:235400", "SCTID:111407006", "UMLS:C0019061"; "HUS", "haemolytic-uraemic syndrome", "hemolytic uremic syndrome"; "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')"; "MONDO:0001549"; rdfs:label "hemolytic-uremic syndrome" . _:31c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia."; "NCIT:P378" . _:31c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:197253"; "MONDO:equivalentTo" . _:31c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12554"; "MONDO:equivalentTo" . _:31c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006588"; "MONDO:equivalentTo", "shared-umls-xref" . _:31c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D59.3"; "DOID:12554", "MONDO:equivalentTo" . _:31c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:283.11"; "DOID:12554", "MONDO:equivalentTo", "i2s" . _:31cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006463"; "DOID:12554", "MONDO:equivalentTo", "MONDO:ontobio" . _:31ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75545"; "DOID:12554", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.11" . _:31cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:235400"; "MONDO:cjm", "MONDO:equivalentTo" . _:31ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:111407006"; "DOID:12554", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:31cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019061"; "DOID:12554", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C75545" . _:31d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUS"; "NCIT:C75545" . _:31d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "haemolytic-uraemic syndrome"; "DOID:12554" . _:31d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemolytic uremic syndrome"; "CSP2005:0427-1005", "DOID:12554" . _:31d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')"; "GARD:0006588" . a owl:Class; rdfs:subClassOf ; "Abnormally high concentration of calcium in the peripheral blood."; , , ; , , , , ; "COHD:435511", "DOID:12678", "HP:0003072", "ICD10:E83.52", "ICD9:275.42", "MESH:D006934", "NCIT:C3112", "SCTID:66931009", "UMLS:C0020437"; "hypercalcemia"; "MONDO:0001566"; rdfs:label "hypercalcemia disease" . _:31dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormally high concentration of calcium in the peripheral blood."; "NCIT:P378" . _:31ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:435511"; "MONDO:equivalentTo" . _:31ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12678"; "MONDO:equivalentTo" . _:31e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0003072"; "MONDO:otherHierarchy", "ontobio" . _:31e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.52"; "DOID:12678", "MONDO:equivalentTo" . _:31e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.42"; "DOID:12678", "MONDO:equivalentTo", "i2s" . _:31e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006934"; "DOID:12678", "MONDO:equivalentTo", "MONDO:ontobio" . _:31e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3112"; "DOID:12678", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45", "MONDO:otherHierarchy" . _:31ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:66931009"; "DOID:12678", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:31efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020437"; "DOID:12678", "MONDO:equivalentTo" . _:31f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia"; "MONDO:ambiguous" . a owl:Class; rdfs:subClassOf , ; "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes."; , , , ; , , , , ; "DOID:1272", "MESH:D013684", "NCIT:C28194", "SCTID:247479008", "UMLS:C0039446"; "telangiectasia"; "MONDO:0001576"; rdfs:label "telangiectasis" . _:31f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes."; "NCIT:P378" . _:31fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1272"; "MONDO:equivalentTo" . _:31fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013684"; "DOID:1272", "MONDO:equivalentTo", "MONDO:ontobio" . _:31fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C28194"; "DOID:1272", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:31fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:247479008"; "DOID:1272", "MONDO:equivalentTo" . _:3237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039446"; "DOID:1272", "MONDO:equivalentTo", "NCIT:C28194" . _:323ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "telangiectasia"; "DOID:1272", "NCIT:C28194" . a owl:Class; rdfs:subClassOf ; , ; , , ; "DOID:13121", "ICD9:281.8", "ICD9:281.9", "SCTID:267513007", "UMLS:C0041782"; "deficiency anemias", "unspecified deficiency anemia"; "MONDO:0001639"; rdfs:label "deficiency anemia" . _:323ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13121"; "MONDO:equivalentTo" . _:3240d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:281.8"; "MONDO:relatedTo", "i2s" . _:3242d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:281.9"; "DOID:13121", "MONDO:equivalentTo", "i2s" . _:3243d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:267513007"; "DOID:13121", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.02" . _:3245d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0041782"; "DOID:13121", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:3248d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency anemias"; "DOID:13121" . _:324ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "unspecified deficiency anemia"; "DOID:13121", "ICD9CM_2006:281.9" . a owl:Class; rdfs:subClassOf ; "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs."; , , , , , , , ; , , , ; "COHD:435789", "DOID:13382", "HP:0001889", "ICD10:D53.1", "ICD9:281.3", "NCIT:C34382", "SCTID:53165003", "UMLS:C0002888"; "Grasbeck-Imerslund syndrome", "Imerslund-Grasbeck syndrome", "MGA1 Norwegian type", "RH-MGA1", "megaloblastic anemia", "recessive hereditary megaloblastic anemia 1"; "IGS"; "MONDO:0001700"; rdfs:label "megaloblastic anemia (disease)" . _:324ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs."; "NCIT:P378" . _:324fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:435789"; "MONDO:equivalentTo" . _:3252d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13382"; "MONDO:equivalentTo" . _:3255d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001889"; "MONDO:otherHierarchy", "ontobio" . _:3257d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D53.1"; "DOID:13382" . _:325ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:281.3"; "MONDO:relatedTo", "i2s" . _:325cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34382"; "DOID:13382", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:325ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:53165003"; "DOID:13382", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.15" . _:325fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002888"; "DOID:13382", "MONDO:equivalentTo", "NCIT:C34382" . _:3260d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grasbeck-Imerslund syndrome"; "DOID:13382" . _:3261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Imerslund-Grasbeck syndrome"; "DOID:13382" . _:3263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGA1 Norwegian type"; "DOID:13382" . _:3265d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RH-MGA1"; "DOID:13382" . _:3266d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megaloblastic anemia"; "MONDO:ambiguous" . _:3267d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "recessive hereditary megaloblastic anemia 1"; "DOID:13382" . _:3269d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGS"; "DOID:13382" . a owl:Class; rdfs:subClassOf ; "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia."; , ; , , , , ; ; "COHD:140065", "DOID:1340", "GARD:0007504", "ICD9:284.81", "MESH:D012010", "NCIT:C34974", "SCTID:50715003", "UMLS:C0034902"; "PRCA", "primary red cell aplasia", "pure red cell aplasia", "red cell hypoplasia"; "MONDO:0001705"; rdfs:label "pure red-cell aplasia" . _:3270d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia."; "NCIT:P378" . _:3271d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:1340" . _:3272d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:140065"; "MONDO:equivalentTo" . _:3273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1340"; "MONDO:equivalentTo" . _:3274d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007504"; "MONDO:equivalentTo" . _:3275d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:284.81"; "MONDO:relatedTo", "i2s" . _:327bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012010"; "DOID:1340", "MONDO:equivalentTo", "MONDO:ontobio" . _:327dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34974"; "DOID:1340", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3280d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:50715003"; "DOID:1340", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3283d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0034902"; "DOID:1340", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C34974" . _:3285d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRCA"; "NCIT:C34974" . _:3287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary red cell aplasia"; "DOID:1340", "MTHICD9_2006:284.0" . _:3289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pure red cell aplasia"; "DOID:1340", "MTHICD9_2006:284.8", "NCIT:C34974" . _:328cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "red cell hypoplasia"; "DOID:1340" . a owl:Class; rdfs:subClassOf , ; "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia."; , , , , , ; , , , , , ; ; "DOID:1342", "GARD:0006149", "ICD10:D61.0", "ICD10:D61.01", "ICD9:284.0", "ICD9:284.09", "MESH:D029502", "Orphanet:68383", "SCTID:28975000", "UMLS:C0702159", "UMLS:C0949116"; "congenital hypoplastic anemia", "constitutional aplastic anemia", "hereditary aplastic anemia"; "rare constitutional aplastic anemia"; "congenital aplastic anemia", "constitutional aplastic anaemia", "hypoplastic anemia - familial"; "MONDO:0001713"; ; rdfs:comment "In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency"; rdfs:label "inherited aplastic anemia" . _:328dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia."; "MESH:D029502" . _:3290d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:1342" . _:3292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1342"; "MONDO:equivalentTo" . _:3295d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006149"; "MONDO:equivalentTo", "shared-umls-xref" . _:3296d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D61.0"; "DOID:1342", "MONDO:equivalentTo", "ORDO:68383/attributed", "ORDO:68383/ntbt", "Orphanet:68383" . _:3299d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D61.01"; "DOID:1342" . _:329bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:284.0"; "DOID:1342", "MONDO:equivalentTo", "i2s" . _:329ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:284.09"; "MONDO:relatedTo", "i2s" . _:32a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D029502"; "DOID:1342", "MONDO:equivalentTo" . _:32a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68383"; "MONDO:equivalentTo" . _:32a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:28975000"; "DOID:1342", "MONDO:equivalentTo" . _:32a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0702159"; "DOID:1342", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:32a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0949116"; "DOID:1342", "MONDO:equivalentTo" . _:32abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hypoplastic anemia"; "CSP2005:0427-0659", "DOID:1342" . _:32afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary aplastic anemia"; "MONDO:patterns/hereditary" . _:32b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare constitutional aplastic anemia"; "Orphanet:68383" . _:32b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional aplastic anaemia"; "DOID:1342" . _:32b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68383" . a owl:Class; rdfs:subClassOf ; "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system."; , , ; , , , , ; "COHD:201066", "DOID:13580", "ICD10:K83.1", "ICD9:576.2", "MESH:D002779", "SCTID:30144000", "UMLS:C0008370"; "bile occlusion", "obstruction of bile duct"; "MONDO:0001751"; rdfs:label "cholestasis" . _:32bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system."; "NCIT:P378" . _:32c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:201066"; "MONDO:equivalentTo" . _:32c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13580"; "MONDO:equivalentTo" . _:32c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K83.1"; "DOID:13580" . _:32c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:576.2"; "DOID:13580", "MONDO:equivalentTo", "i2s" . _:32cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002779"; "DOID:13580", "MONDO:equivalentTo", "MONDO:ontobio" . _:32cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30144000"; "DOID:13580", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:32cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008370"; "DOID:13580", "MONDO:equivalentTo" . _:32d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bile occlusion"; "CSP2005:0413-4023", "DOID:13580" . _:32d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obstruction of bile duct"; "DOID:13580", "ICD9CM_2006:576.2" . a owl:Class; rdfs:subClassOf , ; "A disease involving the optic choroid."; , ; , , , , ; "DOID:1417", "ICD10:H31.9", "ICD9:363.8", "ICD9:363.9", "MESH:D015862", "NCIT:C34468", "SCTID:128468007", "UMLS:C0008521"; "choroid disorder", "disease of optic choroid", "disease or disorder of optic choroid", "disorder of optic choroid", "optic choroid disease", "optic choroid disease or disorder"; "choroid disease", "disorder of optic choroid"; "MONDO:0001898"; rdfs:label "optic choroid disease" . _:32dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the optic choroid."; "MONDO:DesignPattern" . _:32dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1417"; "MONDO:equivalentTo" . _:32ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H31.9"; "DOID:1417" . _:32ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:363.8"; "MONDO:relatedTo", "i2s" . _:32dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:363.9"; "DOID:1417", "MONDO:equivalentTo", "i2s" . _:32e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015862"; "DOID:1417", "MONDO:equivalentTo", "MONDO:ontobio" . _:32e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34468"; "DOID:1417", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:32e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128468007"; "MONDO:equivalentTo" . _:32e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008521"; "DOID:1417", "MONDO:equivalentTo", "NCIT:C34468" . _:32ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "choroid disorder"; "NCIT:C34468" . _:32edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of optic choroid"; "MONDO:patterns/location_top" . _:32efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of optic choroid"; "MONDO:patterns/location_top" . _:32f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "optic choroid disease"; "MONDO:patterns/location" . _:32f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "optic choroid disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:32f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "choroid disease"; "DOID:1417" . _:32f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of optic choroid"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , , ; "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets."; , , , , ; "DOID:14219", "GARD:0007552", "ICD10:N25.89", "ICD9:588.89", "MESH:D000141", "SCTID:1776003", "UMLS:C0001126"; "MONDO:0001909"; ; rdfs:label "renal tubular acidosis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis"^^xsd:anyURI . _:32fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets."; "MESH:D000141" . _:32fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14219"; "MONDO:equivalentTo" . _:32ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007552"; "MONDO:equivalentTo" . _:3301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25.89"; "DOID:14219" . _:3303d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.89"; "MONDO:relatedTo", "i2s" . _:3306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000141"; "DOID:14219", "MONDO:equivalentTo" . _:3308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:1776003"; "DOID:14219", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3309d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001126"; "DOID:14219", "MONDO:equivalentTo" . _:330ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007552" . _:330cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis"^^xsd:anyURI; "GARD:0007552" . a owl:Class; rdfs:subClassOf ; "A disease involving the endocrine pancreas."; , , , , ; , , , ; "DOID:1428", "ICD10:E16", "ICD9:251", "NCIT:C27067", "SCTID:17346000", "UMLS:C0271633"; "disease of endocrine pancreas", "disease or disorder of endocrine pancreas", "disorder of endocrine pancreas", "endocrine pancreas disease", "endocrine pancreas disease or disorder", "endocrine pancreas disorder"; "disorder of endocrine pancreas", "disorder of islets of langerhans", "disorder of pancreatic islets"; "MONDO:0001933"; rdfs:label "endocrine pancreas disease" . _:3315d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the endocrine pancreas."; "MONDO:DesignPattern" . _:3317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1428"; "MONDO:equivalentTo" . _:3318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16"; "DOID:1428" . _:3319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:251"; "DOID:1428" . _:331ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27067"; "MONDO:equivalentTo" . _:331bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:17346000"; "MONDO:equivalentTo" . _:331dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271633"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C27067" . _:331fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of endocrine pancreas"; "MONDO:patterns/location_top" . _:3321d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of endocrine pancreas"; "MONDO:patterns/location_top" . _:3325d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine pancreas disease"; "MONDO:patterns/location", "NCIT:C27067" . _:3327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine pancreas disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:332ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine pancreas disorder"; "NCIT:C27067" . _:332cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of endocrine pancreas"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "The lack of vision. It is caused by neurological or physiological factors."; , , , , , ; , , , ; ; "DOID:1432", "ICD10:H54", "ICD9:369", "MESH:D001766", "NCIT:C97109", "SCTID:105597003"; "vision impairment", "vision loss", "visual impairment"; "blindness"; "MONDO:0001941"; rdfs:label "blindness (disorder)" . _:3333d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The lack of vision. It is caused by neurological or physiological factors."; "NCIT:C97109" . _:3335d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:1432" . _:3338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1432"; "MONDO:equivalentTo" . _:333ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H54"; "MONDO:equivalentTo" . _:333bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:369"; "DOID:1432" . _:333cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001766"; "MONDO:equivalentTo", "MONDO:ontobio" . _:333dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97109"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:333ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:105597003"; "MONDO:equivalentTo" . _:3340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vision impairment"; "DOID:1432" . _:3342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vision loss"; "DOID:1432" . _:3344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visual impairment"; "DOID:1432" . _:3347d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blindness"; "DOID:1432" . a owl:Class; rdfs:subClassOf ; "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics."; , , , , ; , , , ; "COHD:201951", "DOID:14447", "GARD:0002538", "ICD9:758.6", "MESH:D006059", "NCIT:C61420", "SCTID:205681004"; "gonadal dysgenesis syndrome"; "MONDO:0001967"; ; rdfs:label "gonadal dysgenesis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis"^^xsd:anyURI . _:334ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics."; "NCIT:C61420" . _:334fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:201951"; "MONDO:equivalentTo" . _:3350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14447"; "MONDO:equivalentTo" . _:3352d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002538"; "MONDO:equivalentTo" . _:3354d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.6"; "DOID:14447", "MONDO:equivalentTo", "i2s" . _:3357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006059"; "DOID:14447", "MONDO:equivalentTo" . _:3359d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61420"; "DOID:14447", "MONDO:equivalentTo", "exact-label-match" . _:335cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:205681004"; "DOID:14447", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.82/0.23" . _:335fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal dysgenesis syndrome"; "DOID:14447" . _:3360d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002538" . _:3362d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis"^^xsd:anyURI; "GARD:0002538" . a owl:Class; rdfs:subClassOf ; "Increased blood pressure in the arteries of the lungs; the etiology is unknown."; , , ; , ; "DOID:14557", "ICD10:I27.0", "ICD9:416.0", "OMIMPS:178600"; "pulmonary hypertension, primary"; "MONDO:0001999"; rdfs:label "primary pulmonary hypertension" . _:33acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Increased blood pressure in the arteries of the lungs; the etiology is unknown."; "NCIT:P378" . _:33afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14557"; "MONDO:equivalentTo" . _:33b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I27.0"; "DOID:14557", "MONDO:equivalentTo" . _:33b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:416.0"; "DOID:14557", "MONDO:superClassOf" . _:33b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:178600"; "MONDO:cjm", "MONDO:equivalentTo" . _:33b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary hypertension, primary"; "OMIMPS:178600" . a owl:Class; rdfs:subClassOf ; "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease."; , , , , ; "DOID:14749", "GARD:0007033", "ICD10:E71.120", "ICD9:270.7", "NCIT:C98986", "SCTID:42393006", "UMLS:C0268583", "UMLS:C1855119"; "methylmalonic aciduria"; "METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency", "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A", "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B", "methylmalonic acidemia, cblA type", "methylmalonic acidemia, cblB type", "methylmalonic aciduria cblB type", "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency", "methylmalonic aciduria mut type", "methylmalonic aciduria type cblA", "methylmalonic aciduria type cblB", "methylmalonic aciduria, VITAMIN B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type", "methylmalonic aciduria, VITAMIN B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type", "methylmalonic aciduria, mut type"; "MONDO:0002012"; rdfs:label "methylmalonic acidemia" . _:33bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease."; "NCIT:C98986" . _:33c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14749"; "MONDO:equivalentTo" . _:33c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007033"; "MONDO:equivalentTo" . _:33c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.120"; "MONDO:equivalentTo" . _:33c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.7"; "MONDO:relatedTo", "i2s" . _:33c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98986"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:33c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42393006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:33c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268583"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C98986" . _:33cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855119"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:33cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria"; "DOID:14749" . _:33d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency"; "DOID:14749" . _:33d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A"; "DOID:14749" . _:33d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B"; "DOID:14749" . _:33d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia, cblA type"; "DOID:14749" . _:33d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia, cblB type"; "DOID:14749" . _:33d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria cblB type"; "DOID:14749" . _:33dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"; "DOID:14749" . _:33dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria mut type"; "DOID:14749" . _:33dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria type cblA"; "DOID:14749" . _:33e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria type cblB"; "DOID:14749" . _:33e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria, VITAMIN B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type"; "DOID:14749" . _:33e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria, VITAMIN B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type"; "DOID:14749" . _:33e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria, mut type"; "DOID:14749" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia."; , , , , , , ; , , ; "DOID:150", "ICD10:F99", "ICD10:F99-F99", "MESH:D001523", "MFOMD:0000004", "NCIT:C2893"; "Psychiatric disease", "Psychiatric disorder", "disease of mental health", "mental disorder", "mental dysfunction", "mental illness"; "MONDO:0002025"; rdfs:label "psychiatric disorder" . _:33ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia."; "NCIT:C2893" . _:33ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:150"; "MONDO:equivalentTo" . _:33edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:F99"; "DOID:150" . _:33f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:F99-F99"; "DOID:150" . _:33f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001523"; "DOID:150", "MONDO:equivalentTo" . _:33f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2893"; "DOID:150", "MONDO:equivalentTo" . _:33f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Psychiatric disease"; "NCIT:C2893" . _:33f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Psychiatric disorder"; "NCIT:C2893" . _:33fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of mental health"; "DOID:150" . _:33fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental disorder"; "NCIT:C2893" . _:33fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental dysfunction"; "NCIT:C2893" . _:33ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental illness"; "NCIT:C2893" . a owl:Class; rdfs:subClassOf ; "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)"; , , , ; , , , ; "COHD:376132", "DOID:1570", "HP:0000656", "ICD10:H02.1", "ICD10:H02.10", "ICD10:H02.109", "ICD9:374.1", "ICD9:374.10", "MESH:D004483", "SCTID:62909004", "UMLS:C0013592"; "ectropion", "ectropion of eyelid", "everted margin"; "MONDO:0002043"; rdfs:label "ectropion (disease)" . _:3401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)"; "MESH:D004483" . _:3403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:376132"; "MONDO:equivalentTo" . _:3406d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1570"; "MONDO:equivalentTo" . _:3408d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000656"; "MONDO:otherHierarchy", "ontobio" . _:3409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H02.1"; "DOID:1570" . _:340bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H02.10"; "DOID:1570" . _:340cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H02.109"; "DOID:1570" . _:340dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:374.1"; "DOID:1570" . _:340ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:374.10"; "DOID:1570", "MONDO:equivalentTo", "i2s" . _:340fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004483"; "DOID:1570", "MONDO:equivalentTo", "MONDO:ontobio" . _:3410d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:62909004"; "DOID:1570", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.38" . _:3411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013592"; "DOID:1570", "MONDO:equivalentTo" . _:3415d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectropion"; "MONDO:ambiguous" . _:3417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectropion of eyelid"; "DOID:1570" . _:3418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "everted margin"; "DOID:1570" . a owl:Class; rdfs:subClassOf , ; "A disease involving the integumental system."; , , ; "MONDO:0045027"; "DOID:16", "SCTID:128598002", "UMLS:C1290011"; "disease of integumental system", "disease or disorder of integumental system", "disorder of integumental system", "integumental system disease", "integumental system disease or disorder", "integumentary disease"; "disorder of integument", "disorder of integumental system"; "MONDO:0002051"; rdfs:label "integumentary system disease" . _:3420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the integumental system."; "MONDO:DesignPattern" . _:3421d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:16"; "MONDO:equivalentTo" . _:3422d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128598002"; "MONDO:equivalentTo" . _:3423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290011"; "MONDO:equivalentTo" . _:3424d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of integumental system"; "MONDO:patterns/location_top" . _:3425d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of integumental system"; "MONDO:patterns/location_top" . _:3426d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "integumental system disease"; "MONDO:patterns/location" . _:3427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "integumental system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3428d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "integumentary disease"; "DOID:16" . _:3429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of integumental system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm arising from the blood vessels."; , , , , , , , , , , , , , , , ; , , ; ; "Haemangiomatous tumour", "blood vessel neoplasm", "blood vessel tumor (morphologic abnormality)", "blood vessel tumors (morphologic abnormality)", "blood vessel tumour disorder"; "DOID:175", "MESH:D009383", "NCIT:C8538"; "blood vessel tumor", "blood vessel tumors", "cancer of vasculature", "malignant blood vessel neoplasm", "malignant blood vessel tumor", "malignant great vessel tumor", "malignant neoplasm of vasculature", "malignant vascular neoplasm", "malignant vascular tumor", "malignant vasculature neoplasm", "pulmonary artery cancer", "vasculature cancer"; "leiomyosarcoma of the renal vein", "malignant tumor of pulmonary artery", "malignant tumor of pulmonary vein"; "neoplasm of great vessel", "pulmonary artery malignant neoplasm", "pulmonary vein malignant neoplasm", "renal vein leiomyosarcoma", "vascular tissue neoplasm", "vascular tumors"; "MONDO:0002095"; rdfs:comment "Editor note: see also NCIT:C7390"; rdfs:label "vascular cancer" . _:342fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary vein malignant neoplasm"; "DOID:175" . _:3432d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal vein leiomyosarcoma"; "DOID:175" . _:3433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular tissue neoplasm"; "DOID:175" . _:3434d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular tumors"; "DOID:175", "NCIT:C7388" . _:3435d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm arising from the blood vessels."; "NCIT:C8538" . _:3436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:175" . _:3437d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Haemangiomatous tumour"; "DOID:175" . _:3438d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel neoplasm"; "CSP2005:2007-0683", "DOID:175", "NCIT:C7387" . _:3439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel tumor (morphologic abnormality)"; "DOID:175" . _:343bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel tumors (morphologic abnormality)"; "DOID:175" . _:343dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel tumour disorder"; "DOID:175" . _:343fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:175"; "MONDO:equivalentTo" . _:3440d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009383"; "MONDO:equivalentTo", "MONDO:ontobio" . _:3441d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C8538"; "MONDO:equivalentTo" . _:3442d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel tumor"; "DOID:175" . _:3443d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel tumors"; "DOID:175" . _:3444d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of vasculature"; "MONDO:patterns/cancer" . _:3445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant blood vessel neoplasm"; "NCIT:C8538" . _:3447d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant blood vessel tumor"; "NCIT:C8538" . _:344ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant great vessel tumor"; "DOID:175" . _:344ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of vasculature"; "MONDO:patterns/cancer" . _:3450d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant vascular neoplasm"; "DOID:175" . _:3451d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant vascular tumor"; "DOID:175", "NCIT:C7390" . _:3454d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant vasculature neoplasm"; "MONDO:patterns/cancer" . _:3456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary artery cancer"; "MONDO:patterns/location" . _:3458d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leiomyosarcoma of the renal vein"; "DOID:175", "NCIT:C5388" . _:345ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of pulmonary artery"; "DOID:175", "NCIT:C5380" . _:345bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of pulmonary vein"; "DOID:175", "NCIT:C5383" . _:345dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of great vessel"; "DOID:175" . _:345ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary artery malignant neoplasm"; "DOID:175" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the cardiovascular system."; , , , ; "cardiovascular neoplasm"; "DOID:176", "NCIT:C114940", "UMLS:C0497243", "UMLS:C3898472"; "cancer of cardiovascular system", "cardiovascular system cancer", "cardiovascular tumors", "malignant cardiovascular neoplasm", "malignant cardiovascular system neoplasm", "malignant neoplasm of cardiovascular system"; "MONDO:0002100"; rdfs:label "cardiovascular cancer" . _:345fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm involving the cardiovascular system."; "NCIT:C114940" . _:3461d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular neoplasm"; "CSP2005:2007-0683", "DOID:176" . _:3465d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:176"; "MONDO:equivalentTo" . _:3468d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C114940"; "MONDO:equivalentTo" . _:346fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0497243"; "DOID:176", "MONDO:equivalentTo" . _:3470d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3898472"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:3473d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of cardiovascular system"; "MONDO:patterns/cancer" . _:3475d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular tumors"; "DOID:176" . _:3478d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant cardiovascular neoplasm"; "NCIT:C114940" . _:347ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant cardiovascular system neoplasm"; "MONDO:patterns/cancer" . _:347cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of cardiovascular system"; "MONDO:patterns/cancer" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the thyroid gland"; , , , , ; , , , ; "COHD:4178976", "DOID:1781", "ICD10:C73", "ICD9:193", "KEGG:05216", "NCIT:C7510", "SCTID:363478007", "UMLS:CN221577"; "cancer of thyroid gland", "malignant Thyroid gland neoplasm", "malignant Thyroid gland tumor", "malignant Thyroid neoplasm", "malignant Thyroid tumor", "malignant neoplasm of Thyroid", "malignant neoplasm of Thyroid gland", "malignant neoplasm of the Thyroid", "malignant neoplasm of the Thyroid gland", "malignant neoplasm of thyroid gland", "malignant thyroid gland neoplasm", "malignant tumor of Thyroid", "malignant tumor of Thyroid gland", "malignant tumor of the Thyroid", "malignant tumor of the Thyroid gland", "malignant tumour of thyroid gland", "neoplasm of thyroid gland", "thyroid gland cancer", "thyroid gland neoplasm", "thyroid neoplasm"; "MONDO:0002108"; rdfs:label "thyroid cancer" . _:3483d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the thyroid gland"; "MONDO:DesignPattern" . _:3485d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4178976"; "MONDO:equivalentTo" . _:3486d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1781"; "MONDO:equivalentTo" . _:3487d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C73"; "DOID:1781" . _:3489d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:193"; "DOID:1781", "MONDO:equivalentTo", "i2s" . _:348bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05216"; "DOID:1781", "MONDO:equivalentTo" . _:348dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7510"; "DOID:1781", "MONDO:equivalentTo" . _:348ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363478007"; "DOID:1781", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.76/0.62" . _:348fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN221577"; "MONDO:equivalentTo" . _:3491d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of thyroid gland"; "MONDO:patterns/cancer" . _:3492d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant Thyroid gland neoplasm"; "NCIT:C7510" . _:3493d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant Thyroid gland tumor"; "NCIT:C7510" . _:349ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant Thyroid neoplasm"; "NCIT:C7510" . _:349bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant Thyroid tumor"; "NCIT:C7510" . _:349cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of Thyroid"; "NCIT:C7510" . _:349dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of Thyroid gland"; "NCIT:C7510" . _:349ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the Thyroid"; "NCIT:C7510" . _:349fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the Thyroid gland"; "NCIT:C7510" . _:34a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of thyroid gland"; "DOID:1781", "ICD9CM_2006:193", "MONDO:patterns/cancer" . _:34a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant thyroid gland neoplasm"; "MONDO:patterns/cancer" . _:34a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of Thyroid"; "NCIT:C7510" . _:34a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of Thyroid gland"; "NCIT:C7510" . _:34a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the Thyroid"; "NCIT:C7510" . _:34a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the Thyroid gland"; "NCIT:C7510" . _:34abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumour of thyroid gland"; "DOID:1781" . _:34add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of thyroid gland"; "DOID:1781" . _:34afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland cancer"; "MONDO:patterns/location" . _:34b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland neoplasm"; "DOID:1781" . _:34b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid neoplasm"; "DOID:1781" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue."; , , , ; "pancreatic exocrine tumor"; "DOID:1795", "NCIT:C7430", "SCTID:255088001", "UMLS:C0346648"; "cancer of exocrine pancreas", "exocrine pancreas cancer", "malignant exocrine pancreas neoplasm", "malignant exocrine pancreas tumor", "malignant neoplasm of exocrine pancreas", "malignant neoplasm of the exocrine pancreas", "malignant tumor of exocrine pancreas", "malignant tumor of the exocrine pancreas"; "tumor of exocrine pancreas"; "MONDO:0002116"; rdfs:label "malignant exocrine pancreas neoplasm" . _:34bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue."; "NCIT:C7430" . _:34bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic exocrine tumor"; "DOID:1795" . _:34bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1795"; "MONDO:equivalentTo" . _:34bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7430"; "MONDO:equivalentTo" . _:34bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:255088001"; "DOID:1795", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.09" . _:34edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0346648"; "DOID:1795", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C7430" . _:34eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of exocrine pancreas"; "MONDO:patterns/cancer" . _:34f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exocrine pancreas cancer"; "MONDO:patterns/location" . _:34f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant exocrine pancreas neoplasm"; "MONDO:patterns/cancer", "NCIT:C7430" . _:34f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant exocrine pancreas tumor"; "NCIT:C7430" . _:34fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of exocrine pancreas"; "MONDO:patterns/cancer", "NCIT:C7430" . _:34ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the exocrine pancreas"; "DOID:1795", "NCIT:C7430" . _:3500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of exocrine pancreas"; "DOID:1795", "NCIT:C7430" . _:3502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the exocrine pancreas"; "NCIT:C7430" . _:3503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of exocrine pancreas"; "DOID:1795" . a owl:Class; rdfs:subClassOf , , ; "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma."; ; , , , , ; "DOID:1800", "ICDO:8246/3", "MESH:D018278", "NCIT:C3773", "SCTID:253000007", "UMLS:C0206695"; "NEC", "neuroendocrine cancer", "neuroendocrine carcinoma"; "neuroendocrine cancer, NOS"; "MONDO:0002120"; rdfs:label "neuroendocrine carcinoma" . _:350cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma."; "NCIT:C3773" . _:350ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1800"; "MONDO:equivalentTo" . _:350fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8246/3"; "NCIT:C3773" . _:3510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018278"; "DOID:1800", "MONDO:equivalentTo", "MONDO:ontobio" . _:3511d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3773"; "DOID:1800", "MONDO:equivalentTo", "exact-label-match" . _:3513d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:253000007"; "DOID:1800", "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.91/0.11" . _:3514d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206695"; "DOID:1800", "MONDO:equivalentTo", "NCIT:C3773" . _:3517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEC"; "NCIT:C3773" . _:3519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroendocrine cancer"; "NCIT:C3773" . _:351bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroendocrine carcinoma"; "NCIT:C3773" . _:351dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroendocrine cancer, NOS"; "NCIT:C3773"; . a owl:Class; rdfs:subClassOf ; "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer."; , , ; , , , ; "DOID:182", "EFO:0003837", "HP:0003761", "ICD9:275.49", "MESH:D002114", "NCIT:C3672", "SCTID:6595006"; "calcification", "calcium deposit(s)", "deposit(s), calcium", "macrocalcification", "pathologic calcification", "pathologically calcified structure"; "MONDO:0002123"; rdfs:label "calcinosis" . _:3522d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer."; "NCIT:P378" . _:3524d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:182"; "MONDO:equivalentTo" . _:3525d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0003837"; "MONDO:equivalentTo" . _:3526d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0003761"; "MONDO:otherHierarchy" . _:3527d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.49"; "MONDO:relatedTo", "i2s" . _:3528d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002114"; "DOID:182", "MONDO:equivalentTo", "MONDO:ontobio" . _:3529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3672"; "DOID:182", "MONDO:equivalentTo", "MONDO:otherHierarchy" . _:352ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:6595006"; "DOID:182", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/15.07" . _:352bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "calcification"; "NCIT:C3672" . _:352dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "calcium deposit(s)"; "NCIT:C3672" . _:352fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deposit(s), calcium"; "NCIT:C3672" . _:3531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrocalcification"; "NCIT:C3672" . _:3533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pathologic calcification"; "CSP2005:0531-6510", "DOID:182" . _:3536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pathologically calcified structure"; "DOID:182" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation."; , , , , ; "DOID:1924", "ICD9:253.4", "MESH:D007006", "NCIT:C9227", "SCTID:48130008", "UMLS:C0020619"; "gonadotropin deficiency", "hypogonadotropism"; "MONDO:0002146"; rdfs:label "hypogonadism" . _:353cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation."; "NCIT:P378" . _:353dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1924"; "MONDO:equivalentTo" . _:353ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.4"; "MONDO:relatedTo", "i2s" . _:353fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007006"; "DOID:1924", "MONDO:equivalentTo" . _:3542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9227"; "DOID:1924", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.79/0.16" . _:3544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:48130008"; "DOID:1924", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/14.97" . _:3547d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020619"; "DOID:1924", "MONDO:equivalentTo", "NCIT:C9227" . _:3549d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadotropin deficiency"; "NCIT:C9227" . _:354fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropism"; "NCIT:C9227" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the reproductive organ"; , , ; "DOID:193", "NCIT:C36076", "UMLS:C1334618"; "cancer of reproductive organ", "cancer of reproductive system", "malignant neoplasm of reproductive organ", "malignant neoplasm of reproductive system", "malignant reproductive organ neoplasm", "malignant reproductive system neoplasm", "reproductive organ cancer", "reproductive system cancer", "reproductive tumor"; "cancer of reproductive system"; "MONDO:0002149"; rdfs:label "reproductive system cancer" . _:3555d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the reproductive organ"; "MONDO:DesignPattern" . _:3557d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:193"; "MONDO:equivalentTo" . _:3559d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C36076"; "MONDO:equivalentTo", "kboom:pr0.77-conf4.77" . _:355ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1334618"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C36076" . _:355bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of reproductive organ"; "MONDO:patterns/cancer" . _:355cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of reproductive system"; "MONDO:patterns/cancer" . _:355dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of reproductive organ"; "MONDO:patterns/cancer" . _:355ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of reproductive system"; "MONDO:patterns/cancer" . _:3560d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant reproductive organ neoplasm"; "MONDO:patterns/cancer" . _:3561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant reproductive system neoplasm"; "DOID:193", "MONDO:patterns/cancer", "NCIT:C36076" . _:3562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive organ cancer"; "MONDO:patterns/location" . _:3564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive tumor"; "DOID:193", "NCIT:C3674" . _:3566d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of reproductive system"; "DOID:193" . a owl:Class; rdfs:subClassOf ; , ; , , ; "DOID:2007", "ICD10:H35.3", "ICD9:362.5", "SCTID:267611002", "UMLS:C0339436"; "degeneration of macula and posterior pole of retina", "degeneration of macula or posterior pole"; "MONDO:0002175"; rdfs:label "degeneration of macula and posterior pole" . _:356dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2007"; "MONDO:equivalentTo" . _:356fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.3"; "DOID:2007", "MONDO:equivalentTo" . _:3571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.5"; "DOID:2007" . _:3572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:267611002"; "DOID:2007", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339436"; "DOID:2007", "MONDO:equivalentTo" . _:3577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "degeneration of macula and posterior pole of retina"; "DOID:2007", "ICD9CM_2006:362.5" . _:3579d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "degeneration of macula or posterior pole"; "DOID:2007" . a owl:Class; rdfs:subClassOf , ; "Abnormally high levels of insulin in the blood."; , , , ; , , , , ; "DOID:2018", "HP:0000842", "ICD10:E16.1", "ICD9:251.1", "MESH:D006946", "SCTID:83469008", "UMLS:C0020459"; "hyperinsulinemia", "hyperinsulinism"; "MONDO:0002177"; rdfs:label "hyperinsulinism (disease)" . _:357cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormally high levels of insulin in the blood."; "NCIT:P378" . _:357fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2018"; "MONDO:equivalentTo" . _:3580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000842"; "MONDO:otherHierarchy", "ontobio" . _:3583d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "DOID:2018" . _:3585d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:251.1"; "MONDO:relatedTo", "i2s" . _:3587d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006946"; "DOID:2018", "MONDO:equivalentTo", "MONDO:ontobio" . _:3589d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:83469008"; "DOID:2018", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:358ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020459"; "DOID:2018", "MONDO:equivalentTo" . _:358cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemia"; "CSP2005:2204-2400", "DOID:2018" . _:358ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism"; "MONDO:ambiguous" . a owl:Class; rdfs:subClassOf ; "Non-neoplastic overgrowth of bone."; , , , , , ; , , , , , ; "COHD:72715", "DOID:203", "ICD10:M27.8", "ICD9:726.91", "NCIT:C3029", "SCTID:235231000119100", "SCTID:416189003", "UMLS:C1442903", "UMLS:C1956089"; "bone osteophyte", "bone spur", "bony outgrowth", "exostosis", "osteophyte"; "orbital exostosis", "swimmer's exostosis"; "MONDO:0002181"; rdfs:comment "Editor note: compare with osteophyte"; rdfs:label "exostosis" . _:3593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Non-neoplastic overgrowth of bone."; "NCIT:C3029" . _:3597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:72715"; "MONDO:equivalentTo" . _:3599d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:203"; "MONDO:equivalentTo" . _:359ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M27.8"; "DOID:203" . _:359bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:726.91"; "DOID:203", "MONDO:equivalentTo", "i2s" . _:359cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3029"; "DOID:203", "MONDO:equivalentTo" . _:359fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:235231000119100"; "MONDO:equivalentTo" . _:35a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:416189003"; "DOID:203", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.10" . _:35a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1442903"; "DOID:203", "MONDO:equivalentTo", "NCIT:C3029" . _:35a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1956089"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:35a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone spur"; "DOID:203", "NCIT:C3029" . _:35a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bony outgrowth"; "DOID:203" . _:35a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exostosis"; "NCIT:C3029" . _:35aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteophyte"; "DOID:203" . _:35acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orbital exostosis"; "DOID:203" . _:35add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "swimmer's exostosis"; "DOID:203" . a owl:Class; rdfs:subClassOf ; "Excessive thickening of bone."; ; , , , , ; "DOID:205", "ICD10:M89.3", "ICD10:M89.30", "ICD9:733.99", "MESH:D015576", "NCIT:C34712", "SCTID:203514008", "UMLS:C0020492"; "bone hypertrophy", "hypertrophy of bone", "hypertrophy of bone (morphologic abnormality)"; "MONDO:0002185"; rdfs:label "hyperostosis" . _:35aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Excessive thickening of bone."; "NCIT:P378" . _:35afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:205"; "MONDO:equivalentTo" . _:35b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M89.3"; "DOID:205" . _:35b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M89.30"; "DOID:205" . _:35bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.99"; "MONDO:relatedTo", "i2s" . _:35bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015576"; "DOID:205", "MONDO:equivalentTo", "MONDO:ontobio" . _:35c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34712"; "DOID:205", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:35c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:203514008"; "DOID:205", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:35c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020492"; "DOID:205", "MONDO:equivalentTo", "NCIT:C34712" . _:35c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone hypertrophy"; "DOID:205", "NCIT:C34712" . _:35cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertrophy of bone"; "DOID:205", "MTHICD9_2006:733.99" . _:35ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertrophy of bone (morphologic abnormality)"; "DOID:205" . a owl:Class; rdfs:subClassOf , , ; "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient."; , , ; , ; "DOID:2115", "ICD9:279.03", "NCIT:C4799"; "B cell (antibody) deficiencies", "B-cell deficiency", "deficiency of humoral immunity"; "immunoglobulin heavy chain deficiency", "immunoglobulin heavy chain deletion"; "MONDO:0002211"; rdfs:comment "See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18"; rdfs:label "B cell deficiency" . _:35cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient."; "NCIT:C4799" . _:35d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2115"; "MONDO:equivalentTo" . _:35d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.03"; "DOID:2115" . _:35d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4799"; "MONDO:equivalentTo", "NCIT:C4799" . _:35d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "B cell (antibody) deficiencies"; "DOID:2115" . _:35d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "B-cell deficiency"; "NCIT:C4799" . _:35d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of humoral immunity"; "NCIT:C4799" . _:35d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunoglobulin heavy chain deficiency"; "DOID:2115" . _:35d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunoglobulin heavy chain deletion"; "DOID:2115" . a owl:Class; rdfs:subClassOf , ; "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor."; , , , ; "DOID:2152", "ICD9:239.5", "NCIT:C4381", "ONCOTREE:OVT", "SCTID:237057005", "UMLS:C0341823"; "epithelial neoplasm of ovary", "epithelial neoplasm of the ovary", "epithelial tumor of ovary", "epithelial tumor of the ovary", "ovarian epithelial tumor", "ovarian surface epithelial-stromal tumor", "ovarian surface-epithelial stromal neoplasm", "ovary epithelial neoplasm"; "OVT", "ovary epithelial cancer"; "MONDO:0002229"; rdfs:label "ovarian epithelial tumor" . _:35dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor."; "NCIT:C4381" . _:35e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2152"; "MONDO:equivalentTo" . _:35e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.5"; "MONDO:relatedTo", "i2s" . _:35e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4381"; "DOID:2152", "MONDO:equivalentTo" . _:35e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:OVT"; "MONDO:equivalentTo" . _:35e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237057005"; "DOID:2152", "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.91/0.39" . _:35e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0341823"; "DOID:2152", "MONDO:equivalentTo", "NCIT:C4381" . _:35e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial neoplasm of ovary"; "NCIT:C4381" . _:35e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial neoplasm of the ovary"; "NCIT:C4381" . _:35e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial tumor of ovary"; "DOID:2152", "NCIT:C4381" . _:35edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial tumor of the ovary"; "NCIT:C4381" . _:35eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian epithelial tumor"; "NCIT:C4381" . _:35f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian surface epithelial-stromal tumor"; "DOID:2152", "NCIT:C4381" . _:35f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian surface-epithelial stromal neoplasm"; "NCIT:C4381" . _:35f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary epithelial neoplasm"; "MONDO:patterns/location" . _:35f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OVT"; "ONCOTREE:OVT" . _:35f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary epithelial cancer"; "DOID:2152" . a owl:Class; rdfs:subClassOf , , ; "A benign or malignant neoplasm affecting the structures of the eye."; , , , , ; , , , ; "eye neoplasm", "neoplasm of eye", "ocular tumor"; "DOID:2174", "ICD9:190.8", "ICD9:239.89", "MESH:D005134", "NCIT:C4767", "SCTID:371486001"; "cancer of eye", "cancer of eyeball of camera-type eye", "cancer of the eye", "eye cancer", "eye neoplasm, malignant", "eyeball of camera-type eye cancer", "malignant eye neoplasm", "malignant eye tumor", "malignant eyeball of camera-type eye neoplasm", "malignant neoplasm of eye", "malignant neoplasm of eyeball of camera-type eye", "malignant neoplasm of the eye", "malignant ocular neoplasm", "malignant ocular tumor", "malignant tumor of eye", "malignant tumor of the eye"; "malignant eye cancer, NOS", "neoplasm of eye proper"; "MONDO:0002236"; rdfs:comment "Editor note: check to see whether structure is eye or eye + adnexa"; rdfs:label "ocular cancer" . _:3621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm affecting the structures of the eye."; "NCIT:P378" . _:3628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye neoplasm"; "CSP2005:2018-3273", "DOID:2174" . _:362ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of eye"; "DOID:2174" . _:362bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular tumor"; "DOID:2174", "NCIT:C3030" . _:362dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2174"; "MONDO:equivalentTo" . _:362fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:190.8"; "DOID:2174" . _:3631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.89"; "MONDO:relatedTo", "i2s" . _:3633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005134"; "DOID:2174", "MONDO:equivalentTo", "MONDO:ontobio" . _:3638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4767"; "MONDO:equivalentTo", "kboom:pr0.77-conf4.77" . _:363ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:371486001"; "DOID:2174", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.75/0.51" . _:363bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of eye"; "MONDO:patterns/cancer", "NCIT:C4767" . _:363cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of eyeball of camera-type eye"; "MONDO:patterns/cancer" . _:363ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the eye"; "NCIT:C4767" . _:363fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye cancer"; "MONDO:patterns/location", "NCIT:C4767" . _:3640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye neoplasm, malignant"; "NCIT:C4767" . _:3648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant eye neoplasm"; "DOID:2174", "MONDO:patterns/cancer", "NCIT:C4767" . _:364bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant eye tumor"; "NCIT:C4767" . _:364dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant eyeball of camera-type eye neoplasm"; "MONDO:patterns/cancer" . _:364fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of eye"; "MONDO:patterns/cancer", "NCIT:C4767" . _:3650d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of eyeball of camera-type eye"; "MONDO:patterns/cancer" . _:3653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the eye"; "NCIT:C4767" . _:3654d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ocular neoplasm"; "NCIT:C4767" . _:3656d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ocular tumor"; "NCIT:C4767" . _:3657d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of eye"; "NCIT:C4767" . _:3659d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the eye"; "NCIT:C4767" . _:365bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant eye cancer, NOS"; "NCIT:C4767"; . _:365dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of eye proper"; "DOID:2174" . a owl:Class; rdfs:subClassOf , ; "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII."; "FXIIID"; "MONDO:0002241"; rdfs:label "factor XIII deficiency" . _:3666d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII."; "MONDO:cjm" . _:3667d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FXIIID"; "MONDO:cjm" . a owl:Class; rdfs:subClassOf ; "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding."; , , , , ; "DOID:2212", "MESH:D020147", "NCIT:C27215", "SCTID:86075001", "UMLS:C0600503"; "coagulation factor deficiency", "coagulation factor deficiency syndrome"; "MONDO:0002242"; rdfs:label "coagulation protein disease" . _:3668d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding."; "NCIT:C27215" . _:3669d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2212"; "MONDO:equivalentTo" . _:366ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020147"; "DOID:2212", "MONDO:equivalentTo" . _:366bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27215"; "MONDO:equivalentTo" . _:366cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:86075001"; "MONDO:equivalentTo" . _:366dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0600503"; "DOID:2212", "MONDO:equivalentTo" . _:366ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation factor deficiency"; "NCIT:C27215" . _:366fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation factor deficiency syndrome"; "NCIT:C27215" . a owl:Class; rdfs:subClassOf ; "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)."; , , , , ; , , ; "DOID:2213", "ICD10:D69.9", "ICD9:287.9", "MESH:D006474", "NCIT:C115221"; "bleeding diathesis", "bleeding disorder", "bleeding predisposition", "bleeding tendency", "hemorrhagic diathesis", "hemorrhagic disease"; "MONDO:0002243"; rdfs:label "hemorrhagic disease" . _:3671d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)."; "MESH:D006474" . _:3672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2213"; "MONDO:equivalentTo" . _:3673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D69.9"; "DOID:2213" . _:3674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:287.9"; "DOID:2213" . _:3675d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006474"; "DOID:2213", "MONDO:equivalentTo", "MONDO:ontobio" . _:3676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C115221"; "MONDO:equivalentTo" . _:3678d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bleeding diathesis"; "NCIT:C115221" . _:3679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bleeding disorder"; "MONDO:cjm" . _:367bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bleeding predisposition"; "NCIT:C115221" . _:367dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bleeding tendency"; "NCIT:C115221" . _:367fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemorrhagic diathesis"; "DOID:2213", "MTHICD9_2006:287.9" . _:3681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemorrhagic disease"; "DOID:2213" . a owl:Class; rdfs:subClassOf , ; "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood."; , ; "ICD9:286.3", "MESH:D005168", "SCTID:37193007"; "deficiency, stable", "factor VII deficiency"; "MONDO:0002244"; rdfs:label "factor VII deficiency" . _:3686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood."; "NCIT:C131631" . _:3687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286.3"; "MONDO:relatedTo", "i2s" . _:3688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005168"; "MONDO:equivalentTo" . _:368ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:37193007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.75/1.65" . _:368cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency, stable"; "DOID:2215", "MTHICD9_2006:286.3" . _:368fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor VII deficiency"; "DOID:2215" . a owl:Class; rdfs:subClassOf , ; "Disorders caused by abnormalities in platelet count or function."; , , ; "MESH:D001791", "NCIT:C131634", "SCTID:22716005"; "platelet abnormality", "platelet disorder"; "thrombocytopathy"; "MONDO:0002245"; rdfs:label "blood platelet disease" . _:3692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disorders caused by abnormalities in platelet count or function."; "MESH:D001791" . _:3699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001791"; "MONDO:cjm", "MONDO:equivalentTo" . _:369ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131634"; "MONDO:equivalentTo" . _:369bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:22716005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.98/0.75/3.46" . _:369dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "platelet abnormality"; "NCIT:C131634" . _:369fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "platelet disorder"; "MONDO:cjm", "NCIT:C131634" . a owl:Class; rdfs:subClassOf ; "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."; , , , ; "DOID:225", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082"; "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder"; "syndrome associated with disease or disorder"; "MONDO:0002254"; rdfs:label "syndromic disease" . _:36a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."; "NCIT:C28193" . _:36a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:225"; "MONDO:equivalentTo" . _:36a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013577"; "DOID:225", "MONDO:equivalentTo" . _:36a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C28193"; "DOID:225", "MONDO:equivalentTo" . _:36abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OGMS:0000086"; "MONDO:cjm" . _:36add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039082"; "DOID:225", "MONDO:equivalentTo", "NCIT:C28193" . _:36aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cluster, symptom"; "MESH:D013577" . _:36afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "clusters, symptom"; "MESH:D013577" . _:36b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "symptom cluster"; "MESH:D013577" . _:36b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "symptom clusters"; "MESH:D013577" . _:36b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome"; "NCIT:C28193", "OGMS:0000086" . _:36b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with disease or disorder"; "MONDO:patterns/syndromic" . _:36b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes"; "MESH:D013577" . _:36b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic disease"; "MONDO:patterns/syndromic" . _:36b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic disease or disorder"; "MONDO:patterns/syndromic" . _:36bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with disease or disorder"; "MONDO:patterns/syndromic" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the testis or the ovary."; , , , ; "DOID:2277", "MESH:D006058", "NCIT:C26786", "UMLS:C0018050"; "disease of gonad", "disease or disorder of gonad", "disorder of gonad", "disorder of gonads", "gonad disease", "gonad disease or disorder", "gonadal disorder", "gonadal disorders"; "disorder of gonad"; "MONDO:0002259"; rdfs:label "gonadal disease" . _:36c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the testis or the ovary."; "NCIT:P378" . _:36c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2277"; "MONDO:equivalentTo" . _:36c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006058"; "DOID:2277", "MONDO:equivalentTo" . _:36cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26786"; "DOID:2277", "MONDO:equivalentTo" . _:36ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018050"; "DOID:2277", "MONDO:equivalentTo" . _:36cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of gonad"; "MONDO:patterns/location_top" . _:36cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of gonad"; "MONDO:patterns/location_top" . _:36d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of gonads"; "NCIT:C26786" . _:36d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonad disease"; "MONDO:patterns/location" . _:36d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonad disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:36d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal disorder"; "NCIT:C26786" . _:36d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal disorders"; "NCIT:C26786" . _:36d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of gonad"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "An inherited metabolic disorder that involves plasma protein metabolism malfunction."; , , ; ; "DOID:2345", "ICD9:273.8"; "MONDO:0002273"; rdfs:label "plasma protein metabolism disease" . _:36dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited metabolic disorder that involves plasma protein metabolism malfunction."; "DOID:2345", "http://en.wikipedia.org/wiki/Blood_protein" . _:36dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2345"; "MONDO:equivalentTo" . _:36ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:273.8"; "DOID:2345" . a owl:Class; rdfs:subClassOf ; "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)"; , , ; , , , ; "COHD:434614", "DOID:2351", "ICD10:E83.1", "ICD10:E83.10", "ICD9:275.0", "MESH:D019189", "SCTID:30913008", "UMLS:C0012715"; "disorder of iron metabolism", "iron disorder"; "disorder, iron metabolism", "disorders, iron metabolism", "iron metabolism disorder", "metabolism disorder, iron", "metabolism disorders, iron"; "MONDO:0002279"; rdfs:comment "Editor note: DOID refers to acquired version, consider new class"; rdfs:label "iron metabolism disease" . _:36e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)"; "MESH:D019189" . _:36e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434614"; "MONDO:equivalentTo" . _:36e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2351"; "MONDO:equivalentTo" . _:36ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.1"; "DOID:2351", "MONDO:equivalentTo" . _:36ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.10"; "DOID:2351" . _:36ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.0"; "DOID:2351", "MONDO:equivalentTo", "i2s" . _:36eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019189"; "DOID:2351", "MONDO:equivalentTo", "MONDO:ontobio" . _:36f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30913008"; "DOID:2351", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:36f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0012715"; "DOID:2351", "MONDO:equivalentTo" . _:36f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of iron metabolism"; "DOID:2351", "ICD9CM_2006:275.0" . _:36f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iron disorder"; "CSP2005:1630-2859", "DOID:2351" . _:36f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, iron metabolism"; "MESH:D019189" . _:36f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, iron metabolism"; "MESH:D019189" . _:36fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iron metabolism disorder"; "MESH:D019189" . _:36fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolism disorder, iron"; "MESH:D019189" . _:36fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolism disorders, iron"; "MESH:D019189" . a owl:Class; rdfs:subClassOf ; "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability."; , , , , , ; , , , ; "DOID:2355", "EFO:0004272", "HP:0001903", "ICD10:D64.9", "ICD9:285.8", "ICD9:285.9", "MESH:D000740", "NCIT:C2869", "SCTID:271737000"; "anaemia", "anemia"; "MONDO:0002280"; rdfs:label "anemia (disease)" . _:3702d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability."; "NCIT:C2869" . _:3703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2355"; "MONDO:equivalentTo" . _:3705d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0004272"; "DOID:2355", "MONDO:equivalentTo" . _:3706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001903"; "MONDO:otherHierarchy", "ontobio" . _:3708d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.9"; "DOID:2355" . _:370ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:285.8"; "MONDO:relatedTo", "i2s" . _:370dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:285.9"; "DOID:2355", "MONDO:equivalentTo", "i2s" . _:370fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000740"; "DOID:2355", "MONDO:equivalentTo", "MONDO:ontobio" . _:3710d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2869"; "DOID:2355", "MONDO:equivalentTo" . _:3712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:271737000"; "DOID:2355", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/14.80" . _:3714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anaemia"; "DOID:2355" . _:3715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia"; "MONDO:ambiguous", "NCIT:C2869" . a owl:Class; rdfs:subClassOf ; "Anemia that is characterized by increased red blood cell volume."; , , ; , , , , ; "DOID:2361", "HP:0001972", "MESH:D000748", "NCIT:C34381", "SCTID:83414005", "UMLS:C0002886"; "D22S676", "D22S750", "anemia macrocytic", "macrocytic Anemia", "macrocytic anaemia", "macrocytic anaemia of unspecified cause", "macrocytic anemia"; "MONDO:0002281"; rdfs:label "macrocytic anemia (disease)" . _:371dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anemia that is characterized by increased red blood cell volume."; "NCIT:P378" . _:371fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2361"; "MONDO:equivalentTo" . _:3721d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001972"; "MONDO:otherHierarchy", "ontobio" . _:3725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000748"; "DOID:2361", "MONDO:equivalentTo", "MONDO:ontobio" . _:3726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34381"; "DOID:2361", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3727d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:83414005"; "DOID:2361", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3728d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002886"; "DOID:2361", "MONDO:equivalentTo", "NCIT:C34381" . _:3729d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "D22S676"; "Orphanet:119999" . _:372ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "D22S750"; "Orphanet:119999" . _:372bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia macrocytic"; "DOID:2361", "MTH:NOCODE" . _:372cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrocytic Anemia"; "DOID:2361", "NCIT:C34381" . _:372dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrocytic anaemia"; "DOID:2361" . _:372ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrocytic anaemia of unspecified cause"; "DOID:2361" . _:372fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrocytic anemia"; "DOID:2361", "MONDO:ambiguous", "MTHICD9_2006:281.9" . a owl:Class; rdfs:subClassOf ; "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"; , , , ; "DOID:2367", "MESH:D019150", "SCTID:230365004", "UMLS:C0338473"; "MONDO:0002283"; rdfs:label "neuroaxonal dystrophy" . _:3733d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"; "MESH:D019150" . _:3736d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2367"; "MONDO:equivalentTo" . _:3737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019150"; "DOID:2367", "MONDO:equivalentTo" . _:3738d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230365004"; "DOID:2367", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:373bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0338473"; "DOID:2367", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A disease involving the iris."; , ; , , , , ; "DOID:240", "MESH:D007499", "NCIT:C34737", "SCTID:85478004", "UMLS:C0022078"; "disease of iris", "disease or disorder of iris", "disorder of iris", "iris disease", "iris disease or disorder", "iris disorder"; "disorder of iris"; "MONDO:0002289"; rdfs:label "iris disease" . _:375bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the iris."; "MONDO:DesignPattern" . _:375cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:240"; "MONDO:equivalentTo" . _:375ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007499"; "DOID:240", "MONDO:equivalentTo", "MONDO:ontobio" . _:3760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34737"; "DOID:240", "MONDO:equivalentTo" . _:3762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:85478004"; "DOID:240", "MONDO:equivalentTo" . _:3766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022078"; "DOID:240", "MONDO:equivalentTo" . _:3769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of iris"; "MONDO:patterns/location_top" . _:376ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of iris"; "MONDO:patterns/location_top" . _:376dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iris disease"; "MONDO:patterns/location" . _:376ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iris disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iris disorder"; "NCIT:C34737" . _:3774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of iris"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands."; ; , , , ; "DOID:2433", "ICD9:239.2", "NCIT:C4463", "SCTID:126489007", "UMLS:C0345988"; "Epidermal appendage neoplasm", "Epidermal appendage tumor", "adnexal neoplasm of skin", "adnexal neoplasm of the skin", "adnexal tumor of skin", "adnexal tumor of the skin", "cutaneous adnexal neoplasm", "cutaneous appendage neoplasm", "cutaneous appendage neoplasm (disease)", "cutaneous appendage tumor", "neoplasm of Epidermal appendage", "neoplasm of cutaneous appendage", "neoplasm of skin appendage", "neoplasm of skin with adnexal differentiation", "neoplasm of the skin appendage", "skin appendage neoplasm", "skin appendage tumor", "skin appendage tumour", "tumor of Epidermal appendage", "tumor of cutaneous appendage", "tumor of skin appendage", "tumor of the skin appendage"; "MONDO:0002297"; rdfs:label "epidermal appendage tumor" . _:377cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands."; "NCIT:P378" . _:377dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2433"; "MONDO:equivalentTo" . _:3780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.2"; "MONDO:relatedTo", "i2s" . _:3783d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4463"; "DOID:2433", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/27.36" . _:3786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126489007"; "DOID:2433", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345988"; "DOID:2433", "MONDO:equivalentTo", "NCIT:C4463" . _:3789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermal appendage neoplasm"; "NCIT:C4463" . _:378ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermal appendage tumor"; "NCIT:C4463" . _:378bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adnexal neoplasm of skin"; "NCIT:C4463" . _:378cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adnexal neoplasm of the skin"; "NCIT:C4463" . _:378dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adnexal tumor of skin"; "NCIT:C4463" . _:378fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adnexal tumor of the skin"; "NCIT:C4463" . _:3791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous adnexal neoplasm"; "NCIT:C4463" . _:3793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous appendage neoplasm (disease)"; "MONDO:patterns/location" . _:3794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous appendage tumor"; "MONDO:patterns/neoplasm" . _:3795d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of Epidermal appendage"; "NCIT:C4463" . _:3797d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of cutaneous appendage"; "MONDO:patterns/neoplasm" . _:3799d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of skin appendage"; "NCIT:C4463" . _:379ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of skin with adnexal differentiation"; "DOID:2433" . _:379bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the skin appendage"; "DOID:2433", "NCIT:C4463" . _:379cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin appendage neoplasm"; "NCIT:C4463" . _:379dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin appendage tumor"; "NCIT:C4463" . _:379ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin appendage tumour"; "DOID:2433" . _:379fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of Epidermal appendage"; "NCIT:C4463" . _:37a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of cutaneous appendage"; "MONDO:patterns/neoplasm" . _:37a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of skin appendage"; "NCIT:C4463" . _:37a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the skin appendage"; "NCIT:C4463" . a owl:Class; rdfs:subClassOf ; "An abnormality of the nervous system that is present at birth or detected in the neonatal period."; , , ; , ; ; "DOID:2490", "ICD9:742", "NCIT:C97172"; "congenital abnormality of the nervous system", "congenital nervous system disorder", "congenital neurologic anomaly"; "MONDO:0002320"; rdfs:label "congenital nervous system disorder" . _:37a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An abnormality of the nervous system that is present at birth or detected in the neonatal period."; "NCIT:C97172" . _:37a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:2490" . _:37aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2490"; "MONDO:equivalentTo" . _:37abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:742"; "DOID:2490" . _:37add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97172"; "MONDO:equivalentTo" . _:37afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital abnormality of the nervous system"; "NCIT:C97172" . _:37b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital nervous system disorder"; "NCIT:C97172" . _:37b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital neurologic anomaly"; "DOID:2490" . a owl:Class; rdfs:subClassOf ; "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA."; , , ; "DOID:2527", "MESH:D009401", "UMLS:C0027720"; "Nephroses"; "MONDO:0002331"; rdfs:label "nephrosis" . _:37b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA."; "MESH:D009401" . _:37b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2527"; "MONDO:equivalentTo" . _:37b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009401"; "DOID:2527", "MONDO:equivalentTo", "MONDO:ontobio" . _:37bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027720"; "DOID:2527", "MONDO:equivalentTo" . _:37bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nephroses"; "MESH:D009401" . a owl:Class; rdfs:subClassOf , ; "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003"; , ; , , , , , , ; "DOID:2531", "MESH:D019337", "NCIT:C35813", "SCTID:129154003", "UMLS:C0376544", "UMLS:C0376545", "UMLS:C1512393"; "blood neoplasm (disease)", "blood tumor", "hematologic neoplasm", "hematological tumors", "hematopoietic and lymphoid system neoplasm", "hematopoietic and lymphoid system tumor", "hematopoietic neoplasm", "hematopoietic neoplasm (morphologic abnormality)", "hematopoietic system neoplasm", "hematopoietic system tumor", "hematopoietic tumors", "malignant hematopoietic neoplasm", "neoplasm of blood", "neoplasm of hematopoietic system", "tumor of blood", "tumor of hematopoietic system"; "blood cancer", "hematologic malignancy", "hematopoietic cancer", "malignant hematopoietic neoplasm (morphologic abnormality)"; "hematologic cancer"; "MONDO:0002334"; rdfs:label "hematopoietic and lymphoid system neoplasm" . _:37c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003"; "NCIT:C35813" . _:37c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2531"; "MONDO:equivalentTo" . _:37cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019337"; "DOID:2531", "MONDO:equivalentTo", "MONDO:ontobio" . _:37ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35813"; "MONDO:equivalentTo", "kboom:pr0.76-conf3.83" . _:37ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:129154003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.83/0.82" . _:37d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0376544"; "DOID:2531", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:37d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0376545"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:37d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1512393"; "MONDO:equivalentTo", "NCIT:C35813" . _:37d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood neoplasm (disease)"; "MONDO:patterns/location" . _:37d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood tumor"; "MONDO:patterns/neoplasm" . _:37d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematologic neoplasm"; "DOID:2531" . _:37d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematological tumors"; "DOID:2531", "NCIT:C27134" . _:37dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic and lymphoid system neoplasm"; "NCIT:C35813" . _:37dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic and lymphoid system tumor"; "DOID:2531", "NCIT:C35813" . _:37ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic neoplasm"; "DOID:2531" . _:37e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic neoplasm (morphologic abnormality)"; "DOID:2531" . _:37e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic system tumor"; "MONDO:patterns/neoplasm" . _:37e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic tumors"; "DOID:2531", "NCIT:C27134" . _:37e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant hematopoietic neoplasm"; "DOID:2531" . _:37e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of blood"; "MONDO:patterns/neoplasm" . _:37ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of hematopoietic system"; "MONDO:patterns/neoplasm" . _:37ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of blood"; "MONDO:patterns/neoplasm" . _:37ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of hematopoietic system"; "MONDO:patterns/neoplasm" . _:37edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood cancer"; "CSP2005:2004-0139", "DOID:2531" . _:37eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematologic malignancy"; "DOID:2531" . _:37efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic cancer"; "DOID:2531" . _:37f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant hematopoietic neoplasm (morphologic abnormality)"; "DOID:2531" . _:37f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematologic cancer"; "DOID:2531" . a owl:Class; rdfs:subClassOf , ; "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome."; ; , , , , ; "DOID:2590", "ICD10:N04", "NCIT:C35337", "OMIMPS:256300", "SCTID:48796009", "UMLS:C3501848", "UMLS:CN043611"; "congenital nephrotic syndrome", "hereditary nephrotic syndrome"; "MONDO:0002350"; rdfs:label "familial nephrotic syndrome" . _:37f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:37f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2590"; "MONDO:equivalentTo" . _:37fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04"; "DOID:2590" . _:37fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35337"; "DOID:2590", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.77/0.22" . _:3800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:256300"; "MONDO:cjm", "MONDO:equivalentTo" . _:3802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:48796009"; "DOID:2590", "MONDO:equivalentTo" . _:3804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3501848"; "DOID:2590", "MONDO:equivalentTo", "NCIT:C35337" . _:3808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN043611"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:380ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital nephrotic syndrome"; "DOID:2590", "NCIT:C35337" . _:380bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary nephrotic syndrome"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf , ; "Primary or metastatic malignant neoplasm involving the kidney."; , , , , , , ; , , , , ; "DOID:263", "ICD10:C64", "ICD9:189.0", "MESH:D007680", "NCIT:C7548", "SCTID:363518003", "UMLS:CN881103"; "cancer of kidney", "kidney cancer", "malignant kidney neoplasm", "malignant kidney tumor", "malignant neoplasm of kidney", "malignant neoplasm of kidney except pelvis", "malignant neoplasm of the kidney", "malignant renal neoplasm", "malignant renal tumor", "malignant tumor of kidney", "malignant tumor of the kidney", "malignant tumour of kidney", "renal cancer"; "MONDO:0002367"; rdfs:label "kidney cancer" . _:3811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary or metastatic malignant neoplasm involving the kidney."; "NCIT:C7548" . _:3812d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:263"; "MONDO:equivalentTo" . _:3814d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C64"; "DOID:263" . _:3817d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:189.0"; "DOID:263" . _:381ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007680"; "DOID:263", "MONDO:equivalentTo", "MONDO:ontobio" . _:381bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7548"; "DOID:263", "MONDO:equivalentTo" . _:381cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363518003"; "DOID:263", "MONDO:equivalentTo" . _:381dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN881103"; "MONDO:equivalentTo" . _:381fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of kidney"; "MONDO:patterns/cancer" . _:3821d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney cancer"; "MONDO:patterns/location" . _:3822d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant kidney neoplasm"; "MONDO:patterns/cancer", "NCIT:C7548" . _:3824d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant kidney tumor"; "NCIT:C7548" . _:3826d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of kidney"; "MONDO:patterns/cancer", "NCIT:C7548" . _:3828d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of kidney except pelvis"; "DOID:263" . _:382ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the kidney"; "NCIT:C7548" . _:382bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant renal neoplasm"; "NCIT:C7548" . _:382ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant renal tumor"; "NCIT:C7548" . _:382fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of kidney"; "NCIT:C7548" . _:3830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the kidney"; "NCIT:C7548" . _:3831d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumour of kidney"; "DOID:263" . _:3832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal cancer"; "DOID:263" . a owl:Class; rdfs:subClassOf , ; "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis."; , , , , , , , , ; , , , , ; "DOID:2723", "ICD10:L30.9", "ICD9:692.9", "MESH:D003872", "NCIT:C2983", "SCTID:43116000", "UMLS:C0011603"; "eczema", "inflammation of skin", "inflammation of the skin", "inflammation of zone of skin", "skin inflammation", "zone of skin inflammation"; "MONDO:0002406"; rdfs:label "dermatitis" . _:3833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis."; "NCIT:C2983" . _:3835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2723"; "MONDO:equivalentTo" . _:3836d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L30.9"; "DOID:2723" . _:3837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:692.9"; "MONDO:relatedTo", "i2s" . _:3838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003872"; "DOID:2723", "MONDO:equivalentTo" . _:383bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2983"; "DOID:2723", "MONDO:equivalentTo" . _:383dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:43116000"; "DOID:2723", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.67/1.77" . _:3840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011603"; "DOID:2723", "MONDO:equivalentTo", "NCIT:C2983" . _:3842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eczema"; "DOID:2723" . _:3844d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammation of skin"; "NCIT:C2983" . _:3845d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammation of the skin"; "NCIT:C2983" . _:3847d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin inflammation"; "DOID:2723" . _:3848d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . a owl:Class; rdfs:subClassOf ; "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia."; , , , , , ; , , , ; "DOID:2786", "MESH:D002526", "SCTID:223176004", "UMLS:C0007760"; "cerebellum disease", "cerebellum disease or disorder", "disease of cerebellum", "disease or disorder of cerebellum", "disorder of cerebellum"; "disorder of cerebellum"; "MONDO:0002427"; rdfs:label "cerebellar disease" . _:384ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia."; "MESH:D002526" . _:384bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2786"; "MONDO:equivalentTo" . _:384cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002526"; "DOID:2786", "MONDO:equivalentTo", "MONDO:ontobio" . _:384dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:223176004"; "DOID:2786", "MONDO:equivalentTo" . _:384ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007760"; "DOID:2786", "MONDO:equivalentTo" . _:384fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellum disease"; "MONDO:patterns/location" . _:3852d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellum disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3855d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of cerebellum"; "MONDO:patterns/location_top" . _:3857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cerebellum"; "MONDO:patterns/location_top" . _:3858d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cerebellum"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of type IV hypersensitivity."; , ; , , ; "DOID:2916", "ICD10:C88.9", "NCIT:C3115", "UMLS:C0020522"; "DTH", "delayed hypersensitivity reaction", "delayed-type hypersensitivity", "delayed-type hypersensitivity response", "disorder of type IV hypersensitivity", "type 4 hypersensitivity reaction", "type IV hypersensitivity", "type IV hypersensitivity reaction"; "disorder of type IV hypersensitivity", "hypersensitivity reaction type IV disease", "immunoproliferative disease"; "MONDO:0002459"; rdfs:comment "We make this equivalent with the UMLS concept for the reaction"; rdfs:label "type IV hypersensitivity disease" . _:3864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of type IV hypersensitivity."; "MONDO:patterns/basis_in_disruption_of_process" . _:3866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2916"; "MONDO:equivalentTo" . _:3867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C88.9"; "DOID:2916" . _:3868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3115"; "MONDO:equivalentTo" . _:3869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020522"; "MONDO:equivalentTo", "NCIT:C3115" . _:386ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DTH"; "NCIT:C3115" . _:386bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "delayed hypersensitivity reaction"; "NCIT:C3115" . _:386cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "delayed-type hypersensitivity"; "NCIT:C3115" . _:386ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "delayed-type hypersensitivity response"; "NCIT:C3115" . _:3870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of type IV hypersensitivity"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:3872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type 4 hypersensitivity reaction"; "NCIT:C3115" . _:3874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type IV hypersensitivity"; "NCIT:C3115" . _:3876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type IV hypersensitivity reaction"; "NCIT:C3115" . _:3879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of type IV hypersensitivity"; "MONDO:patterns/basis_in_disruption_of_process" . _:387ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypersensitivity reaction type IV disease"; "DOID:2916" . _:387bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunoproliferative disease"; "DOID:2916" . a owl:Class; rdfs:subClassOf , ; "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies."; ; , , , , ; "DOID:2921", "GARD:0006516", "HP:0000099", "ICD10:N05", "ICD10:N08", "ICD9:583.9", "MESH:D005921", "NCIT:C26784", "SCTID:36171008", "UMLS:C0017658"; "glomerular nephritis", "glomerulonephritis", "nephritis of renal glomerulus", "renal glomerulus nephritis"; "bright's disease"; "MONDO:0002462"; rdfs:label "glomerulonephritis (disease)" . _:3881d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies."; "NCIT:P378" . _:3883d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2921"; "MONDO:equivalentTo" . _:3885d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006516"; "MONDO:equivalentTo" . _:3887d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000099"; "MONDO:otherHierarchy", "ontobio" . _:3888d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N05"; "DOID:2921" . _:3889d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N08"; "DOID:2921" . _:388bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:583.9"; "MONDO:relatedTo", "i2s" . _:388dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005921"; "DOID:2921", "MONDO:equivalentTo", "MONDO:ontobio" . _:388ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26784"; "DOID:2921", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:36171008"; "DOID:2921", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017658"; "DOID:2921", "MONDO:equivalentTo", "NCIT:C26784" . _:3892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glomerular nephritis"; "NCIT:C26784" . _:3893d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glomerulonephritis"; "MONDO:ambiguous" . _:3894d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephritis of renal glomerulus"; "MONDO:design_pattern" . _:3896d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal glomerulus nephritis"; "MONDO:patterns/location" . _:3897d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bright's disease"; "GARD:0006516" . a owl:Class; rdfs:subClassOf , , ; , , ; "DOID:2959", "NCIT:C27579", "UMLS:C1334069"; "hyperimmunoglobulin syndrome"; "MONDO:0002468"; rdfs:label "hyperimmunoglobulin syndrome" . _:3898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2959"; "MONDO:equivalentTo" . _:3899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27579"; "DOID:2959", "MONDO:equivalentTo" . _:389ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1334069"; "DOID:2959", "MONDO:equivalentTo", "NCIT:C27579" . _:389bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperimmunoglobulin syndrome"; "NCIT:C27579" . a owl:Class; rdfs:subClassOf ; "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)"; , , ; , , ; "DOID:3086", "ICD10:K06.1", "ICD9:523.8", "MESH:D019214", "SCTID:54711002"; "gingival enlargement"; "gingival enlargement NOS"; "MONDO:0002507"; rdfs:label "gingival overgrowth" . _:38a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)"; "MESH:D019214" . _:38aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3086"; "MONDO:equivalentTo" . _:38acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K06.1"; "DOID:3086" . _:38b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:523.8"; "MONDO:relatedTo", "i2s" . _:38b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019214"; "DOID:3086", "MONDO:equivalentTo", "MONDO:ontobio" . _:38b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:54711002"; "DOID:3086", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:38b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gingival enlargement"; "DOID:3086" . _:38b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gingival enlargement NOS"; "DOID:3086", "MTHICD9_2006:523.8"; . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma."; , , ; "DOID:3118", "NCIT:C3959", "UMLS:C0267792"; "disease of hepatobiliary system", "disease or disorder of hepatobiliary system", "disorder of hepatobiliary system", "hepatobiliary disorder", "hepatobiliary system disease", "hepatobiliary system disease or disorder", "liver and biliary disease", "liver and biliary disorder", "liver and biliary system disorder", "liver and biliary tract disease"; "disorder of hepatobiliary system"; "MONDO:0002515"; rdfs:label "hepatobiliary disease" . _:38bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma."; "NCIT:P378" . _:38bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3118"; "MONDO:equivalentTo" . _:38bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3959"; "DOID:3118", "MONDO:equivalentTo" . _:38c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0267792"; "DOID:3118", "MONDO:equivalentTo" . _:38c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of hepatobiliary system"; "MONDO:patterns/location_top" . _:38c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of hepatobiliary system"; "MONDO:patterns/location_top" . _:38c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatobiliary disorder"; "NCIT:C3959" . _:38c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatobiliary system disease"; "MONDO:patterns/location" . _:38ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatobiliary system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:38cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver and biliary disease"; "NCIT:C3959" . _:38d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver and biliary disorder"; "NCIT:C3959" . _:38d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver and biliary system disorder"; "NCIT:C3959" . _:38d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver and biliary tract disease"; "DOID:3118" . _:38d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of hepatobiliary system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving any part of the digestive system."; , , , , , , , , , , , ; , ; "DOID:3119", "ICD10:C15.C26", "ICD10:C26.9", "ICD9:239.0", "NCIT:C4890"; "GI tumor", "cancer of digestive system", "digestive system cancer", "gastrointestinal system cancer", "gastrointestinal tract cancer", "malignant digestive system neoplasm", "malignant gastrointestinal neoplasm", "malignant gastrointestinal system neoplasm", "malignant neoplasm of digestive system"; "gastrointestinal cancer, NOS"; "MONDO:0002516"; rdfs:label "digestive system cancer" . _:38dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm involving any part of the digestive system."; "NCIT:C4890" . _:38e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3119"; "MONDO:equivalentTo" . _:38e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C15.C26"; "MONDO:equivalentTo" . _:38e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C26.9"; "DOID:3119" . _:38e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.0"; "DOID:3119" . _:38e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4890"; "DOID:3119", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.76/0.60" . _:38e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GI tumor"; "DOID:3119", "NCIT:C3052" . _:38ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of digestive system"; "MONDO:patterns/cancer" . _:38ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system cancer"; "DOID:3119", "MONDO:patterns/location" . _:38ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal system cancer"; "NCIT:C4890" . _:38edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal tract cancer"; "DOID:3119", "NCIT:C4890" . _:38eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant digestive system neoplasm"; "MONDO:patterns/cancer", "NCIT:C4890" . _:38f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant gastrointestinal neoplasm"; "NCIT:C4890" . _:38f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant gastrointestinal system neoplasm"; "NCIT:C4890" . _:38f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of digestive system"; "MONDO:patterns/cancer" . _:38f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal cancer, NOS"; "NCIT:C4890"; . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor."; , ; , , ; "DOID:3193", "MESH:D018317", "NCIT:C4972", "ONCOTREE:NST"; "neoplasm of nerve sheath", "neoplasm of the nerve sheath", "nerve sheath neoplasm", "nerve sheath tumor", "nerve sheath tumour", "peripheral nerve sheath neoplasm", "tumor of nerve sheath"; "MONDO:0002547"; rdfs:label "nerve sheath neoplasm" . _:38fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor."; "NCIT:C4972" . _:38fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3193"; "MONDO:equivalentTo" . _:38ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018317"; "DOID:3193", "MONDO:equivalentTo" . _:3900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4972"; "MONDO:equivalentTo", "kboom:pr0.75-conf4.32" . _:3903d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:NST"; "MONDO:equivalentTo" . _:3905d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of nerve sheath"; "NCIT:C4972" . _:3906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the nerve sheath"; "DOID:3193", "NCIT:C4972" . _:3907d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nerve sheath neoplasm"; "NCIT:C4972" . _:3908d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nerve sheath tumor"; "NCIT:C4972" . _:390ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nerve sheath tumour"; "DOID:3193" . _:390bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of nerve sheath"; "NCIT:C4972" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma."; , , , , ; "DOID:3225", "ICD10:S12.8", "MESH:D014133", "NCIT:C35079", "SCTID:47125007", "UMLS:C0040580"; "disease of trachea", "disease or disorder of trachea", "disorder of trachea", "trachea disease", "trachea disease or disorder", "tracheal disorder"; "disorder of trachea"; "MONDO:0002567"; rdfs:label "tracheal disease" . _:3913d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma."; "NCIT:P378" . _:3914d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3225"; "MONDO:equivalentTo" . _:3915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:S12.8"; "DOID:3225" . _:3917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014133"; "DOID:3225", "MONDO:equivalentTo", "MONDO:ontobio" . _:3919d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35079"; "DOID:3225", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:391bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:47125007"; "DOID:3225", "MONDO:equivalentTo" . _:391ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040580"; "DOID:3225", "MONDO:equivalentTo", "NCIT:C35079" . _:3920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of trachea"; "MONDO:patterns/location_top" . _:3922d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of trachea"; "MONDO:patterns/location_top", "NCIT:C35079" . _:3927d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trachea disease"; "MONDO:patterns/location" . _:3928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trachea disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3929d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tracheal disorder"; "NCIT:C35079" . _:392ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of trachea"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support."; , ; , , , , ; "COHD:134398", "DOID:3388", "ICD10:K05.6", "ICD9:523.8", "MESH:D010510", "NCIT:C63743", "SCTID:2556008", "UMLS:C0031090"; "disease of periodontium", "disease of supporting structures of teeth", "disease or disorder of periodontium", "disorder of periodontium", "periodontal disease", "periodontal disorder", "periodontium disease", "periodontium disease or disorder", "periodontium disorder"; "disease of supporting structures of teeth, NOS", "disorder of periodontium"; "MONDO:0002635"; rdfs:label "periodontal disease" . _:3935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support."; "NCIT:P378" . _:3936d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:134398"; "MONDO:equivalentTo" . _:3937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3388"; "MONDO:equivalentTo" . _:3939d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K05.6"; "DOID:3388" . _:393ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:523.8"; "MONDO:relatedTo", "i2s" . _:393cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010510"; "DOID:3388", "MONDO:equivalentTo", "MONDO:ontobio" . _:393ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C63743"; "DOID:3388", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:393fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:2556008"; "DOID:3388", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3940d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031090"; "DOID:3388", "MONDO:equivalentTo", "NCIT:C63743" . _:3941d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of periodontium"; "MONDO:patterns/location_top" . _:3942d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of supporting structures of teeth"; "DOID:3388" . _:3943d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of periodontium"; "MONDO:patterns/location_top" . _:3944d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodontal disease"; "DOID:3388" . _:3945d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodontal disorder"; "NCIT:C63743" . _:3946d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodontium disease"; "MONDO:patterns/location" . _:3947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodontium disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3948d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodontium disorder"; "CSP2005:0828-4279", "DOID:3388" . _:3949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of supporting structures of teeth, NOS"; "DOID:3388"; . _:394ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of periodontium"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma."; , , , , ; "DOID:3480", "GARD:0008192", "MESH:D014603", "NCIT:C26908", "SCTID:95678007", "UMLS:C0042161"; "disease of uvea", "disease or disorder of uvea", "disorder of uvea", "uvea disease", "uvea disease or disorder", "uveal disease", "uveal disorder", "uveal tract disease"; "disorder of uvea", "disorder of uveal tract", "uveal diseases"; "MONDO:0002661"; rdfs:label "uveal disease" . _:394fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma."; "NCIT:P378" . _:3950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3480"; "MONDO:equivalentTo" . _:3951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008192"; "MONDO:equivalentTo", "shared-xref" . _:3952d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014603"; "DOID:3480", "MONDO:equivalentTo", "MONDO:ontobio" . _:3953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26908"; "DOID:3480", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3954d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95678007"; "DOID:3480", "MONDO:equivalentTo" . _:3955d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042161"; "DOID:3480", "MONDO:equivalentTo", "NCIT:C26908" . _:3957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of uvea"; "MONDO:patterns/location_top" . _:3959d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of uvea"; "MONDO:patterns/location_top" . _:395ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uvea disease"; "MONDO:patterns/location" . _:3960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uvea disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3962d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uveal disease"; "NCIT:C26908" . _:3964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uveal disorder"; "NCIT:C26908" . _:3965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uveal tract disease"; "MONDO:patterns/location" . _:3967d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of uvea"; "MONDO:patterns/location_top" . _:3969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of uveal tract"; "MONDO:patterns/location_top" . _:396bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uveal diseases"; "GARD:0008192" . a owl:Class; rdfs:subClassOf , ; "A carcinoma involving a adrenal gland."; ; ; "DOID:3950"; "adrenal gland carcinoma", "carcinoma of adrenal gland", "carcinoma of the adrenal gland"; "MONDO:0002814"; rdfs:label "adrenal carcinoma" . _:396dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carcinoma involving a adrenal gland."; "MONDO:patterns/carcinoma" . _:396ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3950"; "MONDO:equivalentTo" . _:396fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland carcinoma"; "MONDO:patterns/location" . _:3971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of adrenal gland"; "MONDO:patterns/carcinoma" . _:3973d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the adrenal gland"; "DOID:3950", "NCIT:C9324" . a owl:Class; rdfs:subClassOf ; "A disease involving the adrenal cortex."; , , , ; "DOID:3952", "MESH:D000303", "SCTID:129636003", "UMLS:C0001614"; "adrenal cortex disease", "adrenal cortex disease or disorder", "disease of adrenal cortex", "disease or disorder of adrenal cortex", "disorder of adrenal cortex"; "disorder of adrenal cortex"; "MONDO:0002816"; rdfs:label "adrenal cortex disease" . _:3980d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the adrenal cortex."; "MONDO:DesignPattern" . _:3981d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3952"; "MONDO:equivalentTo" . _:3982d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000303"; "DOID:3952", "MONDO:equivalentTo", "MONDO:ontobio" . _:3984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:129636003"; "DOID:3952", "MONDO:equivalentTo" . _:3988d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001614"; "DOID:3952", "MONDO:equivalentTo" . _:398ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal cortex disease"; "MONDO:patterns/location" . _:398cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal cortex disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:398ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of adrenal cortex"; "MONDO:patterns/location_top" . _:3993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of adrenal cortex"; "MONDO:patterns/location_top" . _:3995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of adrenal cortex"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , , ; "A malignant neoplasm involving the adrenal gland"; , , , , , ; , , , ; "DOID:3953", "GARD:0005751", "ICD10:C74", "ICD10:C74.9", "ICD9:194.0", "ICD9:239.7", "MESH:D000310", "NCIT:C9338", "SCTID:127021009"; "adrenal cancer", "adrenal gland cancer", "adrenal neoplasm", "cancer of adrenal gland", "malignant adrenal gland neoplasm", "malignant adrenal gland tumor", "malignant adrenal neoplasm", "malignant adrenal tumor", "malignant neoplasm of adrenal gland", "malignant neoplasm of the adrenal gland", "malignant tumor of adrenal gland", "malignant tumor of the adrenal gland", "neoplasm of adrenal gland", "tumor of the adrenal gland"; "MONDO:0002817"; ; rdfs:label "adrenal gland cancer" . _:399ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the adrenal gland"; "MONDO:DesignPattern" . _:399dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3953"; "MONDO:equivalentTo" . _:399fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005751"; "MONDO:equivalentTo" . _:39a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C74"; "DOID:3953" . _:39a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C74.9"; "DOID:3953" . _:39a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:194.0"; "DOID:3953" . _:39a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.7"; "MONDO:relatedTo", "i2s" . _:39a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000310"; "DOID:3953", "MONDO:equivalentTo", "MONDO:ontobio" . _:39aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9338"; "DOID:3953", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.10" . _:39acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:127021009"; "DOID:3953", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.75/0.45" . _:39aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal cancer"; "DOID:3953", "NCIT:C9338" . _:39b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland cancer"; "MONDO:patterns/location" . _:39b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal neoplasm"; "CSP2005:2009-6040", "DOID:3953" . _:39b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of adrenal gland"; "MONDO:patterns/cancer" . _:39b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant adrenal gland neoplasm"; "MONDO:patterns/cancer", "NCIT:C9338" . _:39b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant adrenal gland tumor"; "NCIT:C9338" . _:39b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant adrenal neoplasm"; "NCIT:C9338" . _:39b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant adrenal tumor"; "DOID:3953", "NCIT:C9338" . _:39b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of adrenal gland"; "DOID:3953", "ICD9CM_2006:194.0", "MONDO:patterns/cancer", "NCIT:C9338" . _:39b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the adrenal gland"; "NCIT:C9338" . _:39b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of adrenal gland"; "NCIT:C9338" . _:39bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the adrenal gland"; "NCIT:C9338" . _:39bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of adrenal gland"; "DOID:3953" . _:39bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the adrenal gland"; "DOID:3953", "NCIT:C2859" . a owl:Class; rdfs:subClassOf , ; "A disease involving the nail."; , , ; , , , ; "DOID:4123", "ICD10:L60", "ICD10:L60.9", "ICD9:703", "ICD9:703.8", "ICD9:703.9", "MESH:D009260", "SCTID:17790008", "UMLS:C0027339"; "disease of nail", "disease or disorder of nail", "disorder of nail", "nail disease", "nail disease or disorder"; "disorder of nail"; "MONDO:0002884"; rdfs:label "nail disease" . _:39c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the nail."; "MONDO:DesignPattern" . _:39c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4123"; "MONDO:equivalentTo" . _:39cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L60"; "DOID:4123" . _:39cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L60.9"; "DOID:4123" . _:39cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:703"; "DOID:4123" . _:39ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:703.8"; "MONDO:relatedTo", "i2s" . _:39cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:703.9"; "DOID:4123", "MONDO:equivalentTo", "i2s" . _:39d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009260"; "DOID:4123", "MONDO:equivalentTo", "MONDO:ontobio" . _:39d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:17790008"; "DOID:4123", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.77" . _:39d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027339"; "DOID:4123", "MONDO:equivalentTo" . _:39d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of nail"; "MONDO:patterns/location_top" . _:39d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of nail"; "MONDO:patterns/location_top" . _:39d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nail disease"; "MONDO:patterns/location" . _:39d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nail disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:39d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of nail"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the bile duct."; ; , , , , ; "DOID:4138", "MESH:D001649", "NCIT:C96716", "SCTID:118926004", "UMLS:C0005395"; "bile duct disease", "bile duct disease or disorder", "bile duct disorder", "disease of bile duct", "disease or disorder of bile duct", "disorder of bile duct"; "disorder of bile duct"; "MONDO:0002887"; rdfs:label "bile duct disease" . _:39e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the bile duct."; "MONDO:DesignPattern" . _:39e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4138"; "MONDO:equivalentTo" . _:39e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001649"; "DOID:4138", "MONDO:equivalentTo", "MONDO:ontobio" . _:39edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C96716"; "DOID:4138", "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.39/0.73" . _:39f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:118926004"; "DOID:4138", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:39f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005395"; "DOID:4138", "MONDO:equivalentTo", "NCIT:C96716" . _:39f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bile duct disease"; "MONDO:patterns/location" . _:39fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bile duct disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:39fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bile duct disorder"; "NCIT:C96716" . _:39fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of bile duct"; "MONDO:patterns/location_top" . _:39fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bile duct"; "MONDO:patterns/location_top" . _:39fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bile duct"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the zone of skin"; , , , ; , , , ; "COHD:4155297", "DOID:4159", "GARD:0010421", "ICD10:C43.C44", "ICD9:173.8", "ICD9:173.9", "NCIT:C2920", "SCTID:372130007", "UMLS:C0007114"; "CA - skin cancer", "cancer of zone of skin", "malignant neoplasm of skin", "malignant neoplasm of the skin", "malignant neoplasm of zone of skin", "malignant skin neoplasm", "malignant skin tumor", "malignant tumor of skin", "malignant tumor of the skin", "malignant zone of skin neoplasm", "melanoma and non-melanoma skin cancer", "skin cancer", "skin cancer, Including melanoma", "skin neoplasm, malignant", "zone of skin cancer"; "cancer of skin", "skin cancer, NOS"; "MONDO:0002898"; rdfs:label "skin cancer" . _:3a03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the zone of skin"; "MONDO:DesignPattern" . _:3a05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4155297"; "MONDO:equivalentTo" . _:3a07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4159"; "MONDO:equivalentTo" . _:3a08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010421"; "MONDO:equivalentTo" . _:3a0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.C44"; "MONDO:equivalentTo" . _:3a0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:173.8"; "MONDO:relatedTo", "i2s" . _:3a16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:173.9"; "MONDO:relatedTo", "i2s" . _:3a18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2920"; "DOID:4159", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3a1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:372130007"; "DOID:4159", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3a1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007114"; "DOID:4159", "MONDO:equivalentTo", "NCIT:C2920" . _:3a1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CA - skin cancer"; "DOID:4159" . _:3a1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of zone of skin"; "MONDO:patterns/cancer" . _:3a1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of skin"; "DOID:4159", "MTH:NOCODE", "NCIT:C2920" . _:3a24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the skin"; "NCIT:C2920" . _:3a26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of zone of skin"; "MONDO:patterns/cancer" . _:3a27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant skin neoplasm"; "NCIT:C2920" . _:3a2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant skin tumor"; "NCIT:C2920" . _:3a2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of skin"; "NCIT:C2920" . _:3a2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the skin"; "NCIT:C2920" . _:3a2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant zone of skin neoplasm"; "MONDO:patterns/cancer" . _:3a31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanoma and non-melanoma skin cancer"; "DOID:4159", "NCIT:C2920" . _:3a33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin cancer"; "NCIT:C2920" . _:3a35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin cancer, Including melanoma"; "NCIT:C2920" . _:3a36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin neoplasm, malignant"; "NCIT:C2920" . _:3a37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin cancer"; "MONDO:patterns/location" . _:3a38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of skin"; "DOID:4159" . _:3a39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin cancer, NOS"; "NCIT:C2920"; . a owl:Class; rdfs:subClassOf ; "A disease that involves the pilosebaceous unit."; , , ; , , , , , ; "COHD:135033", "DOID:421", "ICD9:704.8", "ICD9:704.9", "MESH:D006201", "NCIT:C34656", "SCTID:201128002", "UMLS:C0018500", "UMLS:C0554472"; "disease of pilosebaceous unit", "disease or disorder of pilosebaceous unit", "disorder of pilosebaceous unit", "hair and hair follicle diseases", "hair disorder", "hair/hair follicle diseases", "pilosebaceous unit disease", "pilosebaceous unit disease or disorder"; "hair disease"; "disorder of pilosebaceous unit"; "MONDO:0002917"; rdfs:label "disease of pilosebaceous unit" . _:3a3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the pilosebaceous unit."; "MONDO:patterns/location" . _:3a3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:135033"; "MONDO:equivalentTo" . _:3a3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:421"; "MONDO:equivalentTo" . _:3a3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:704.8"; "MONDO:relatedTo", "i2s" . _:3a41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:704.9"; "MONDO:equivalentTo", "i2s" . _:3a43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006201"; "DOID:421", "MONDO:equivalentTo", "MONDO:ontobio" . _:3a45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34656"; "DOID:421", "MONDO:equivalentTo" . _:3a47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:201128002"; "MONDO:equivalentTo" . _:3a48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018500"; "DOID:421", "MONDO:equivalentTo", "NCIT:C34656" . _:3a4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0554472"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:3a4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of pilosebaceous unit"; "MONDO:patterns/location_top" . _:3a50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of pilosebaceous unit"; "MONDO:patterns/location_top" . _:3a51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hair and hair follicle diseases"; "MONDO:DesignPattern" . _:3a53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hair disorder"; "NCIT:C34656" . _:3a54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hair/hair follicle diseases"; "MONDO:DesignPattern" . _:3a56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pilosebaceous unit disease"; "MONDO:patterns/location" . _:3a58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pilosebaceous unit disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3a59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hair disease"; "MESH:D006201" . _:3a5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of pilosebaceous unit"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills."; , , , ; "DOID:422", "MESH:D020914", "NCIT:C84648", "UMLS:C0752282"; "centronuclear myopathy"; "MONDO:0002921"; rdfs:label "congenital structural myopathy" . _:3a5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills."; "NCIT:P378" . _:3a61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:422"; "MONDO:equivalentTo" . _:3a63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020914"; "DOID:422", "MONDO:equivalentTo" . _:3a65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84648"; "DOID:422", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.87/0.20" . _:3a68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0752282"; "DOID:422", "MONDO:equivalentTo", "NCIT:C84648" . _:3a6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "centronuclear myopathy"; "NCIT:C84648" . a owl:Class; rdfs:subClassOf ; "Abnormally high bone density."; , , , , ; "DOID:4254", "ICD10:Q78.2", "MESH:D010026", "NCIT:C41236", "SCTID:49347007", "UMLS:C0029464"; "MONDO:0002933"; rdfs:label "osteosclerosis" . _:3a6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormally high bone density."; "NCIT:C41236" . _:3a6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4254"; "MONDO:equivalentTo" . _:3a6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.2"; "DOID:4254" . _:3a70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010026"; "DOID:4254", "MONDO:equivalentTo", "MONDO:ontobio" . _:3a73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C41236"; "DOID:4254", "MONDO:equivalentTo", "MONDO:otherHierarchy", "exact-label-match" . _:3a75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:49347007"; "DOID:4254", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.28" . _:3a77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029464"; "DOID:4254", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis."; , , , , ; "DOID:438", "MESH:D020274", "NCIT:C99383", "UMLS:C0751871", "UMLS:C0751872"; "autoimmune disease of nervous system", "autoimmune disease, neurologic", "autoimmune diseases, nervous system", "autoimmune diseases, neurologic", "autoimmune disorders of the nervous system", "autoimmune disorders, nervous system", "autoimmune nervous system diseases", "autoimmune nervous system disorder", "disease, neurologic autoimmune", "diseases, neurologic autoimmune", "immune diseases, nervous system", "immune disorders, nervous system", "nervous system autoimmune disease", "nervous system autoimmune diseases", "nervous system hypersensitivity reaction type II disease", "nervous system immune diseases", "nervous system immune disorders", "neurologic autoimmune disease", "neurologic autoimmune diseases"; "MONDO:0002977"; rdfs:label "autoimmune disease of the nervous system" . _:3a7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis."; "NCIT:C99383" . _:3a7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:438"; "MONDO:equivalentTo" . _:3a7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020274"; "DOID:438", "MONDO:equivalentTo" . _:3a80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99383"; "DOID:438", "MONDO:equivalentTo" . _:3a82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751871"; "DOID:438", "MONDO:equivalentTo", "NCIT:C99383" . _:3a83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751872"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:3a84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease of nervous system"; "MONDO:design_pattern" . _:3a85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease, neurologic"; "MESH:D020274" . _:3a86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune diseases, nervous system"; "MESH:D020274" . _:3a88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune diseases, neurologic"; "MESH:D020274" . _:3a8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disorders of the nervous system"; "MESH:D020274" . _:3a8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disorders, nervous system"; "MESH:D020274" . _:3a8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune nervous system diseases"; "MESH:D020274" . _:3a90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune nervous system disorder"; "CSP2005:1560-5548", "DOID:438", "NCIT:C99383" . _:3a91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, neurologic autoimmune"; "MESH:D020274" . _:3a92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, neurologic autoimmune"; "MESH:D020274" . _:3a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune diseases, nervous system"; "MESH:D020274" . _:3a99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune disorders, nervous system"; "MESH:D020274" . _:3a9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system autoimmune disease"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3a9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system autoimmune diseases"; "MESH:D020274" . _:3aa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system hypersensitivity reaction type II disease"; "MONDO:patterns/location" . _:3aa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system immune diseases"; "MESH:D020274" . _:3aa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system immune disorders"; "MESH:D020274" . _:3aa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurologic autoimmune disease"; "MESH:D020274" . _:3aa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurologic autoimmune diseases"; "MESH:D020274" . a owl:Class; rdfs:subClassOf ; "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body."; , ; , , , ; "DOID:4535", "ICD9:704.09", "MESH:D007039", "NCIT:C34720", "OMIMPS:605389", "SCTID:53602002"; "MONDO:0003037"; rdfs:label "hypotrichosis" . _:3aacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body."; "NCIT:P378" . _:3aadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4535"; "MONDO:equivalentTo" . _:3aafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:704.09"; "MONDO:relatedTo", "i2s" . _:3ab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007039"; "DOID:4535", "MONDO:equivalentTo", "MONDO:ontobio" . _:3ab2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34720"; "DOID:4535", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:3ab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:605389"; "DOID:4535", "MONDO:equivalentTo" . _:3ab4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:53602002"; "DOID:4535", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/14.11" . a owl:Class; rdfs:subClassOf ; "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis."; , , , , , ; ; "DOID:4873", "ICD9:335", "ICD9:335.9"; "disease of ventral horn of spinal cord", "disease or disorder of ventral horn of spinal cord", "disorder of ventral horn of spinal cord", "ventral horn of spinal cord disease", "ventral horn of spinal cord disease or disorder"; "disorder of ventral horn of spinal cord"; "MONDO:0003182"; rdfs:comment "TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND"; rdfs:label "anterior horn disease" . _:3ab8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis."; "https://en.wikipedia.org/wiki/Anterior_horn_disease" . _:3ab9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4873"; "MONDO:equivalentTo" . _:3abad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335"; "DOID:4873" . _:3abbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.9"; "DOID:4873", "MONDO:relatedTo" . _:3abdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of ventral horn of spinal cord"; "MONDO:patterns/location_top" . _:3ac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ventral horn of spinal cord"; "MONDO:patterns/location_top" . _:3ac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ventral horn of spinal cord disease"; "MONDO:patterns/location" . _:3ac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ventral horn of spinal cord disease or disorder"; "MONDO:patterns/location" . _:3ac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ventral horn of spinal cord"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm affecting the tissues of the thorax."; , ; , , , ; "thorax neoplasm", "tumor of thorax"; "DOID:5093", "ICD10:C76.1", "ICD9:195.1", "NCIT:C3576", "SCTID:188361007", "UMLS:C0153661"; "cancer of thoracic segment of trunk", "malignant neoplasm of the thorax", "malignant neoplasm of thoracic segment of trunk", "malignant neoplasm of thorax", "malignant thoracic neoplasm", "malignant thoracic segment of trunk neoplasm", "malignant thoracic tumor", "malignant tumor of the thorax", "malignant tumor of thorax", "thoracic segment of trunk cancer", "thoracic tumor", "thorax cancer"; "MONDO:0003274"; rdfs:label "thoracic cancer" . _:3accd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm affecting the tissues of the thorax."; "NCIT:C3576" . _:3acdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thorax neoplasm"; "CSP2005:2005-5041", "DOID:5093" . _:3aced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of thorax"; "DOID:5093" . _:3acfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5093"; "MONDO:equivalentTo" . _:3ad0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C76.1"; "DOID:5093" . _:3ad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:195.1"; "DOID:5093", "MONDO:equivalentTo", "i2s" . _:3ad2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3576"; "DOID:5093", "MONDO:equivalentTo" . _:3ad3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:188361007"; "DOID:5093", "MONDO:equivalentTo" . _:3ad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0153661"; "DOID:5093", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3576" . _:3ad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of thoracic segment of trunk"; "MONDO:patterns/cancer" . _:3ad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the thorax"; "NCIT:C3576" . _:3ad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of thoracic segment of trunk"; "MONDO:patterns/cancer" . _:3ad9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of thorax"; "NCIT:C3576" . _:3adad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant thoracic neoplasm"; "NCIT:C3576" . _:3adcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant thoracic segment of trunk neoplasm"; "MONDO:patterns/cancer" . _:3aded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant thoracic tumor"; "NCIT:C3576" . _:3adfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the thorax"; "NCIT:C3576" . _:3ae1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of thorax"; "NCIT:C3576" . _:3ae3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic segment of trunk cancer"; "MONDO:patterns/location" . _:3ae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic tumor"; "DOID:5093", "NCIT:C3406" . _:3ae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thorax cancer"; "DOID:5093" . a owl:Class; rdfs:subClassOf ; "Pathological processes in the colon region of the large intestine (intestine, large)."; , , , ; "DOID:5353", "MESH:D003108", "SCTID:128524007", "UMLS:C0009373"; "colon disease", "colon disease or disorder", "colon disorder", "disease of colon", "disease or disorder of colon", "disorder of colon"; "disorder of colon"; "MONDO:0003409"; rdfs:label "colonic disease" . _:3ae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pathological processes in the colon region of the large intestine (intestine, large)."; "MESH:D003108" . _:3aecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5353"; "MONDO:equivalentTo" . _:3aedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003108"; "DOID:5353", "MONDO:equivalentTo", "MONDO:ontobio" . _:3aeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128524007"; "DOID:5353", "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.70" . _:3af1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0009373"; "DOID:5353", "MONDO:equivalentTo" . _:3af6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colon disease"; "MONDO:patterns/location" . _:3af7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colon disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3af8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colon disorder"; "CSP2005:1248-3971", "DOID:5353" . _:3afbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of colon"; "MONDO:patterns/location_top" . _:3afdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of colon"; "MONDO:patterns/location_top" . _:3afed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of colon"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures."; , , , , , ; , , , ; "COHD:375800", "DOID:543", "HP:0001332", "ICD10:G24", "ICD10:G24.9", "ICD9:333.90", "MESH:D020821", "NCIT:C34563", "OMIMPS:128100", "SCTID:15802004"; "dystonia", "dystonic disease", "dystonic disorder"; "dystonia disorder", "dystonia disorders"; "MONDO:0003441"; rdfs:label "dystonic disorder" . _:3b08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures."; "NCIT:C34563" . _:3b09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:375800"; "MONDO:equivalentTo" . _:3b0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:543"; "MONDO:equivalentTo" . _:3b0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001332"; "MONDO:otherHierarchy", "ontobio" . _:3b0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24"; "DOID:543", "MONDO:equivalentTo" . _:3b0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.9"; "DOID:543" . _:3b0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.90"; "MONDO:relatedTo", "i2s" . _:3b10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020821"; "DOID:543", "MONDO:equivalentTo" . _:3b11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34563"; "DOID:543", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3b12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:128100"; "MONDO:cjm", "MONDO:equivalentTo" . _:3b16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15802004"; "DOID:543", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3b18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia"; "MONDO:ambiguous" . _:3b19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonic disease"; "DOID:543" . _:3b1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonic disorder"; "MESH:D020821" . _:3b1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia disorder"; "MESH:D020821" . _:3b1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia disorders"; "MESH:D020821" . a owl:Class; rdfs:subClassOf , ; "A disease involving the oculomotor nerve."; ; , , , , ; "DOID:562", "MESH:D015840", "NCIT:C27598", "SCTID:60750009", "UMLS:C0271353"; "disease of oculomotor nerve", "disease or disorder of oculomotor nerve", "disorder of oculomotor nerve", "oculomotor nerve disease", "oculomotor nerve disease or disorder", "oculomotor nerve disorder"; "disorder of oculomotor nerve"; "MONDO:0003546"; rdfs:label "third cranial nerve disease" . _:3b22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the oculomotor nerve."; "MONDO:DesignPattern" . _:3b24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:562"; "MONDO:equivalentTo" . _:3b26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015840"; "MONDO:equivalentTo" . _:3b27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27598"; "DOID:562", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3b29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:60750009"; "DOID:562", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271353"; "DOID:562", "MONDO:equivalentTo", "NCIT:C27598" . _:3b31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of oculomotor nerve"; "MONDO:patterns/location_top" . _:3b33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of oculomotor nerve"; "DOID:562", "MONDO:patterns/location_top" . _:3b34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor nerve disease"; "MONDO:patterns/location" . _:3b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor nerve disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3b36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor nerve disorder"; "DOID:562", "NCIT:C27598" . _:3b38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of oculomotor nerve"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves."; , , , ; , , , , ; "COHD:441848", "DOID:5656", "ICD10:G52.9", "ICD9:352.9", "MESH:D003389", "NCIT:C26733", "SCTID:73013002", "UMLS:C0010266"; "cranial nerve disease", "cranial nerve disorder", "cranial neuron projection bundle disease", "cranial neuron projection bundle disease or disorder", "cranial neuropathy", "disease of cranial neuron projection bundle", "disease or disorder of cranial neuron projection bundle", "disorder of cranial nerve", "disorder of cranial neuron projection bundle"; "cranial nerve disease", "cranial nerve disorder", "disorder of cranial neuron projection bundle"; "MONDO:0003569"; rdfs:label "cranial nerve neuropathy" . _:3b3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves."; "NCIT:C26733" . _:3b40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:441848"; "MONDO:equivalentTo" . _:3b41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5656"; "MONDO:equivalentTo" . _:3b42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G52.9"; "DOID:5656" . _:3b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:352.9"; "DOID:5656", "MONDO:equivalentTo", "i2s" . _:3b44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003389"; "DOID:5656", "MONDO:equivalentTo" . _:3b45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26733"; "DOID:5656", "MONDO:equivalentTo" . _:3b48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:73013002"; "DOID:5656", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.75/1.16" . _:3b49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010266"; "DOID:5656", "MONDO:equivalentTo", "NCIT:C26733" . _:3b4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve disease"; "NCIT:C26733" . _:3b4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve disorder"; "DOID:5656", "NCIT:C26733" . _:3b50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial neuron projection bundle disease"; "MONDO:patterns/location" . _:3b53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial neuron projection bundle disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3b55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial neuropathy"; "NCIT:C26733" . _:3b56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of cranial neuron projection bundle"; "MONDO:patterns/location_top" . _:3b58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cranial nerve"; "DOID:5656", "NCIT:C26733" . _:3b5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cranial neuron projection bundle"; "MONDO:patterns/location_top" . _:3b5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve disease"; "NCIT:C26733" . _:3b60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve disorder"; "NCIT:C26733" . _:3b65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cranial neuron projection bundle"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A laboratory test result which indicates free hemoglobin in the urine."; , , ; , , , ; ; "DOID:582", "ICD10:R82.3", "ICD9:791.2", "MESH:D006456", "UMLS:C0019048"; "MONDO:0003656"; rdfs:comment "May be obsoleted as it represents a finding"; rdfs:label "hemoglobinuria" . _:3b67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A laboratory test result which indicates free hemoglobin in the urine."; "NCIT:P378" . _:3b68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:582" . _:3b69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:582"; "MONDO:equivalentTo" . _:3b6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:R82.3"; "DOID:582", "MONDO:equivalentTo" . _:3b6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:791.2"; "DOID:582" . _:3b6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006456"; "DOID:582", "MONDO:equivalentTo", "MONDO:ontobio" . _:3b6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019048"; "DOID:582", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies."; , , , , , , ; , , , ; "COHD:28396", "DOID:589", "GARD:0006167", "ICD10:D58.9", "ICD9:282", "ICD9:282.9", "MESH:D000745", "NCIT:C34379", "SCTID:42601008"; "congenital hemolytic anemia", "hereditary hemolytic anemia"; "anemia hemolytic congenital"; "MONDO:0003689"; ; rdfs:label "familial hemolytic anemia"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia"^^xsd:anyURI . _:3b6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies."; "NCIT:C34379" . _:3b73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:28396"; "MONDO:equivalentTo" . _:3b76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:589"; "MONDO:equivalentTo" . _:3b77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006167"; "MONDO:equivalentTo" . _:3b79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D58.9"; "DOID:589" . _:3b7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282"; "DOID:589" . _:3b7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.9"; "DOID:589" . _:3b7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000745"; "DOID:589", "MONDO:equivalentTo", "MONDO:ontobio" . _:3b7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34379"; "DOID:589", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3b7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42601008"; "DOID:589", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.08" . _:3b81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hemolytic anemia"; "NCIT:C34379" . _:3b86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hemolytic anemia"; "DOID:589", "MONDO:patterns/hereditary", "NCIT:C34379" . _:3b8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia hemolytic congenital"; "GARD:0006167" . _:3b8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006167" . _:3b8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia"^^xsd:anyURI; "GARD:0006167" . a owl:Class; rdfs:subClassOf ; "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity."; , , ; "DOID:6025", "NCIT:C27870", "UMLS:C1335942"; "selective Immunoglobulin isotype deficiency"; "MONDO:0003739"; rdfs:label "selective immunoglobulin deficiency disease" . _:3b8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity."; "NCIT:C27870" . _:3b92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6025"; "MONDO:equivalentTo" . _:3b94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27870"; "DOID:6025", "MONDO:equivalentTo" . _:3b96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1335942"; "DOID:6025", "MEDGEN:kboom-pr95-c98", "MONDO:equivalentTo", "NCIT:C27870" . _:3b98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective Immunoglobulin isotype deficiency"; "NCIT:C27870" . a owl:Class; rdfs:subClassOf ; "A disorder in which the immune system is unable to mount an adequate immune response."; , ; , , , ; "DOID:612", "ICD10:D84.9", "ICD9:279.3", "KEGG:05340", "MESH:D007153", "UMLS:C0021051"; "hypoimmunity", "immune deficiency disorder", "immunodeficiency syndrome"; "antibody deficiency syndrome", "antibody deficiency syndromes", "deficiency syndrome, antibody", "deficiency syndrome, immunologic", "deficiency syndrome, immunological", "deficiency syndromes, antibody", "deficiency syndromes, immunologic", "deficiency syndromes, immunological", "immunologic deficiency syndrome", "immunological deficiency syndrome", "immunological deficiency syndromes", "syndrome, antibody deficiency", "syndrome, immunologic deficiency", "syndrome, immunological deficiency", "syndromes, antibody deficiency", "syndromes, immunologic deficiency", "syndromes, immunological deficiency"; "MONDO:0003778"; rdfs:comment "Editor note: check relationship to immunodeficiency syndrome"; rdfs:label "primary immunodeficiency disease" . _:3b9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder in which the immune system is unable to mount an adequate immune response."; "NCIT:P378" . _:3b9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:612"; "MONDO:equivalentTo" . _:3ba4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.9"; "DOID:612" . _:3ba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.3"; "DOID:612", "MONDO:directSiblingOf" . _:3ba6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05340"; "DOID:612", "MONDO:equivalentTo" . _:3ba8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007153"; "DOID:612", "MONDO:equivalentTo" . _:3ba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021051"; "DOID:612", "MONDO:equivalentTo" . _:3babd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoimmunity"; "CSP2005:1553-9570", "DOID:612" . _:3baed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune deficiency disorder"; "CSP2005:1560-5885", "DOID:612" . _:3bafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency syndrome"; "DOID:612", "NCIT:C3131" . _:3bb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "antibody deficiency syndrome"; "MESH:D007153" . _:3bb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "antibody deficiency syndromes"; "MESH:D007153" . _:3bb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency syndrome, antibody"; "MESH:D007153" . _:3bb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency syndrome, immunologic"; "MESH:D007153" . _:3bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency syndrome, immunological"; "MESH:D007153" . _:3bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency syndromes, antibody"; "MESH:D007153" . _:3bb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency syndromes, immunologic"; "MESH:D007153" . _:3bbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency syndromes, immunological"; "MESH:D007153" . _:3bbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunologic deficiency syndrome"; "MESH:D007153" . _:3bbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunological deficiency syndrome"; "MESH:D007153" . _:3bbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunological deficiency syndromes"; "MESH:D007153" . _:3bbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, antibody deficiency"; "MESH:D007153" . _:3bbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, immunologic deficiency"; "MESH:D007153" . _:3bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, immunological deficiency"; "MESH:D007153" . _:3bc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, antibody deficiency"; "MESH:D007153" . _:3bc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, immunologic deficiency"; "MESH:D007153" . _:3bc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, immunological deficiency"; "MESH:D007153" . a owl:Class; rdfs:subClassOf ; , , ; "DOID:620", "MESH:D001796", "UMLS:C0005830"; "blood protein disorder"; "Protein disorder, blood", "Protein disorders, blood", "blood Protein disorder", "disorder, blood Protein", "disorders, blood Protein"; "MONDO:0003804"; rdfs:label "blood protein disease" . _:3bd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:620"; "MONDO:equivalentTo" . _:3bd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001796"; "DOID:620", "MONDO:equivalentTo", "MONDO:ontobio" . _:3bd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005830"; "DOID:620", "MONDO:equivalentTo" . _:3bd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood protein disorder"; "CSP2005:0449-0541", "DOID:620" . _:3bd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein disorder, blood"; "MESH:D001796" . _:3bdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein disorders, blood"; "MESH:D001796" . _:3bdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood Protein disorder"; "MESH:D001796" . _:3bded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, blood Protein"; "MESH:D001796" . _:3bdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, blood Protein"; "MESH:D001796" . a owl:Class; rdfs:subClassOf ; "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels."; , , ; "DOID:625", "NCIT:C27319", "UMLS:C0859960"; "MONDO:0003827"; rdfs:label "transient hypogammaglobulinemia" . _:3be1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels."; "NCIT:P378" . _:3be2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:625"; "MONDO:equivalentTo" . _:3be3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27319"; "DOID:625", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:3be4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0859960"; "DOID:625", "MONDO:equivalentTo", "NCIT:C27319" . a owl:Class; rdfs:subClassOf , , ; "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited."; ; , , , , ; "DOID:626", "ICD10:D80-D89", "ICD10:D84.1", "ICD9:279.8", "NCIT:C4691", "Orphanet:459345", "SCTID:24743004", "UMLS:C0272242"; "complement activation disease", "complement deficiency", "complement deficiency disease", "disorder of complement activation", "immunodeficiency due to a complement cascade component deficiency"; "disorder of complement activation"; "MONDO:0003832"; ; rdfs:label "complement deficiency" . _:3bebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited."; "MONDO:nv", "PMID:16026838", "PMID:20930072" . _:3becd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:626"; "MONDO:equivalentTo" . _:3bedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80-D89"; "DOID:626" . _:3beed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "DOID:626" . _:3befd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.8"; "MONDO:relatedTo", "i2s" . _:3bf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4691"; "DOID:626", "MONDO:equivalentTo" . _:3bf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:459345"; "MONDO:equivalentTo" . _:3bf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:24743004"; "DOID:626", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3bf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0272242"; "DOID:626", "MONDO:equivalentTo", "NCIT:C4691" . _:3bf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement activation disease"; "MONDO:design_pattern" . _:3bf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement deficiency"; "DOID:626", "NCIT:C4691" . _:3bf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement deficiency disease"; "DOID:626" . _:3bfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of complement activation"; "MONDO:patterns/basis_in_disruption_of_process" . _:3bfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to a complement cascade component deficiency"; "MONDO:0018726" . _:3bfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of complement activation"; "MONDO:patterns/basis_in_disruption_of_process" . _:3bfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:459345" . a owl:Class; rdfs:subClassOf ; "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity."; , , , ; "DOID:654", "ICD9:278.8", "MESH:D044343", "SCTID:302872003", "UMLS:C1257763"; "MONDO:0003916"; rdfs:label "overnutrition" . _:3c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity."; "MESH:D044343" . _:3c04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:654"; "MONDO:equivalentTo" . _:3c05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:278.8"; "MONDO:relatedTo", "i2s" . _:3c07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D044343"; "DOID:654", "MONDO:equivalentTo", "MONDO:ontobio" . _:3c09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:302872003"; "DOID:654", "MONDO:equivalentTo", "MONDO:kboom-pr-0.98/0.71/4.03" . _:3c0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1257763"; "DOID:654", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A disease involving the muscle tissue."; ; "DOID:66"; "disease of muscle tissue", "disease or disorder of muscle tissue", "disorder of muscle tissue", "muscle tissue disease", "muscle tissue disease or disorder"; "disorder of muscle tissue"; "MONDO:0003939"; rdfs:label "muscle tissue disease" . _:3c0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the muscle tissue."; "MONDO:DesignPattern" . _:3c12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:66"; "MONDO:equivalentTo" . _:3c16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of muscle tissue"; "MONDO:patterns/location_top" . _:3c18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of muscle tissue"; "MONDO:patterns/location_top" . _:3c19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle tissue disease"; "MONDO:patterns/location" . _:3c1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle tissue disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3c1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of muscle tissue"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma."; , , ; "DOID:6901", "NCIT:C36102", "UMLS:C1333992"; "familial ovarian carcinoma", "hereditary ovarian cancer", "hereditary ovarian carcinoma"; "familiar ovarian carcinoma"; "MONDO:0004033"; rdfs:label "familial ovarian carcinoma" . _:3c21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma."; "NCIT:P378" . _:3c23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6901"; "MONDO:equivalentTo" . _:3c24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C36102"; "DOID:6901", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3c25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1333992"; "DOID:6901", "MONDO:equivalentTo", "NCIT:C36102" . _:3c26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial ovarian carcinoma"; "NCIT:C36102" . _:3c28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary ovarian cancer"; "NCIT:C36102" . _:3c29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary ovarian carcinoma"; "MONDO:patterns/hereditary", "NCIT:C36102" . _:3c2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familiar ovarian carcinoma"; "DOID:6901" . a owl:Class; rdfs:subClassOf ; "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."; , ; , , , ; "DOID:700", "GARD:0007048", "MESH:D028361", "Orphanet:68380"; "mitochondrial disease"; "mitochondrial genetic disorders", "mitochondrial metabolism disease"; "MONDO:0004069"; , ; rdfs:label "inborn mitochondrial metabolism disorder"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders"^^xsd:anyURI . _:3c30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."; "MESH:D028361" . _:3c31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:700"; "MONDO:cjm", "MONDO:equivalentTo" . _:3c35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007048"; "MONDO:equivalentTo" . _:3c37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D028361"; "DOID:700", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:68380/e", "Orphanet:68380" . _:3c3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68380"; "MONDO:equivalentTo" . _:3c3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial disease"; "MONDO:0019055" . _:3c3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial genetic disorders"; "GARD:0007048" . _:3c3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial metabolism disease"; "DOID:700" . _:3c41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68380" . _:3c43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders"^^xsd:anyURI; "GARD:0007048" . a owl:Class; rdfs:subClassOf ; "Anemia in which the red blood cell volume is normal."; , , , ; "DOID:720", "ICD9:285.8", "NCIT:C35142", "SCTID:300980002", "UMLS:C0085577"; "anemia normocytic", "normocytic Anemia"; "MONDO:0004139"; rdfs:label "normocytic anemia" . _:3c48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anemia in which the red blood cell volume is normal."; "NCIT:C35142" . _:3c49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:720"; "MONDO:equivalentTo" . _:3c4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:285.8"; "MONDO:relatedTo", "i2s" . _:3c4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35142"; "DOID:720", "MONDO:equivalentTo", "exact-label-match" . _:3c4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:300980002"; "DOID:720", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/27.35" . _:3c50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085577"; "DOID:720", "MONDO:equivalentTo", "NCIT:C35142" . _:3c53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia normocytic"; "DOID:720", "MTH:NOCODE" . _:3c54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "normocytic Anemia"; "NCIT:C35142" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma."; , , , ; "DOID:7505", "NCIT:C4432", "SCTID:126832004", "UMLS:C0345832"; "neoplasm of small bowel", "neoplasm of small intestine", "neoplasm of the small bowel", "neoplasm of the small intestine", "small bowel neoplasm", "small bowel tumor", "small intestinal neoplasm", "small intestine neoplasm", "small intestine neoplasm (disease)", "small intestine tumor", "tumor of small bowel", "tumor of small intestine", "tumor of the small bowel", "tumor of the small intestine"; "MONDO:0004251"; rdfs:label "small intestine neoplasm" . _:3c5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma."; "NCIT:P378" . _:3c5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:7505"; "MONDO:equivalentTo" . _:3c5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4432"; "DOID:7505", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3c60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126832004"; "DOID:7505", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3c62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345832"; "DOID:7505", "MONDO:equivalentTo", "NCIT:C4432" . _:3c64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of small bowel"; "NCIT:C4432" . _:3c65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of small intestine"; "MONDO:patterns/neoplasm", "NCIT:C4432" . _:3c67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the small bowel"; "NCIT:C4432" . _:3c68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the small intestine"; "NCIT:C4432" . _:3c69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small bowel neoplasm"; "NCIT:C4432" . _:3c6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small bowel tumor"; "NCIT:C4432" . _:3c6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small intestinal neoplasm"; "DOID:7505", "NCIT:C4432" . _:3c6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small intestine neoplasm"; "NCIT:C4432" . _:3c6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small intestine neoplasm (disease)"; "MONDO:patterns/location" . _:3c6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small intestine tumor"; "MONDO:patterns/neoplasm", "NCIT:C4432" . _:3c6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of small bowel"; "NCIT:C4432" . _:3c70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of small intestine"; "MONDO:patterns/neoplasm", "NCIT:C4432" . _:3c71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the small bowel"; "NCIT:C4432" . _:3c72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the small intestine"; "NCIT:C4432" . a owl:Class; rdfs:subClassOf , ; ; "DOID:771"; "cancer of retinal cell", "malignant neoplasm of retinal cell", "malignant retinal cell neoplasm", "retinal cell cancer"; "MONDO:0004338"; rdfs:label "retinal cell cancer" . _:3c74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:771"; "MONDO:equivalentTo" . _:3c76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of retinal cell"; "MONDO:patterns/cancer" . _:3c78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of retinal cell"; "MONDO:patterns/cancer" . _:3c79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant retinal cell neoplasm"; "MONDO:patterns/cancer" . _:3c7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal cell cancer"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf ; "Degeneration of the retina."; ; , , , ; "DOID:8466", "MESH:D012162", "NCIT:C34979", "SCTID:95695004"; "degeneration of retina", "retina degeneration", "retina, Degeneration Of"; "MONDO:0004580"; rdfs:label "retinal degeneration" . _:3c81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Degeneration of the retina."; "NCIT:C34979" . _:3c82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8466"; "MONDO:equivalentTo" . _:3c83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012162"; "DOID:8466", "MONDO:equivalentTo", "MONDO:ontobio" . _:3c85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34979"; "DOID:8466", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:3c88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95695004"; "DOID:8466", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3c8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "degeneration of retina"; "DOID:8466" . _:3c8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retina degeneration"; "DOID:8466", "MTH:649" . _:3c8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retina, Degeneration Of"; "NCIT:C34979" . a owl:Class; rdfs:subClassOf ; "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism."; , , , , , ; , , , ; "COHD:4307356", "DOID:8515", "ICD10:I27.81", "ICD10:I27.9", "MESH:D011660", "SCTID:274096000", "UMLS:C0034072"; "cardiopulmonary disease", "cor pulmonale", "pulmonary heart disease"; "disease, pulmonary heart", "diseases, pulmonary heart", "heart disease, pulmonary", "heart diseases, pulmonary", "pulmonary heart diseases"; "MONDO:0004596"; rdfs:label "cor pulmonale" . _:3c93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism."; "MESH:D011660" . _:3c9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4307356"; "MONDO:equivalentTo" . _:3c9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8515"; "MONDO:equivalentTo" . _:3c9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I27.81"; "DOID:8515", "MONDO:equivalentTo" . _:3c9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I27.9"; "DOID:8515" . _:3ca1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011660"; "DOID:8515", "MONDO:equivalentTo", "MONDO:ontobio" . _:3ca2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:274096000"; "DOID:8515", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.20" . _:3ca4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0034072"; "DOID:8515", "MONDO:equivalentTo" . _:3ca7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiopulmonary disease"; "CSP2005:2595-5525", "DOID:8515" . _:3cabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cor pulmonale"; "MESH:D011660" . _:3cacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary heart disease"; "DOID:8515" . _:3caed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, pulmonary heart"; "MESH:D011660" . _:3cafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, pulmonary heart"; "MESH:D011660" . _:3cb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart disease, pulmonary"; "MESH:D011660" . _:3cb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart diseases, pulmonary"; "MESH:D011660" . _:3cb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary heart diseases"; "MESH:D011660" . a owl:Class; rdfs:subClassOf , ; "MONDO:0004603"; rdfs:label "collagenopathy" . a owl:Class; rdfs:subClassOf ; "A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)"; , , ; , , , ; "COHD:444429", "DOID:8566", "EFO:1002022", "ICD10:B00", "ICD10:B00.9", "ICD9:054", "ICD9:058.89", "MESH:D006561", "SCTID:88594005", "UMLS:C0019348"; "Herpesvirus hominis disease", "Simplexvirus caused disease or disorder", "Simplexvirus disease or disorder", "Simplexvirus infectious disease"; "herpes simplex", "herpes simplex complex", "herpes simplex infection", "herpes simplex viral infection"; "MONDO:0004609"; rdfs:label "herpes simplex infectious disease" . _:3cbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)"; "MESH:D006561" . _:3cbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:444429"; "MONDO:equivalentTo" . _:3cc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8566"; "MONDO:equivalentTo" . _:3cc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1002022"; "MONDO:equivalentTo" . _:3cc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:B00"; "DOID:8566", "MONDO:equivalentTo" . _:3cc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:B00.9"; "DOID:8566" . _:3cc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:054"; "DOID:8566" . _:3cc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:058.89"; "MONDO:relatedTo", "i2s" . _:3ccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006561"; "DOID:8566", "MONDO:equivalentTo", "MONDO:ontobio" . _:3ccbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:88594005"; "DOID:8566", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3cccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019348"; "DOID:8566", "MONDO:equivalentTo" . _:3cced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesvirus hominis disease"; "CSP2005:3099-9580", "DOID:8566" . _:3cd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Simplexvirus caused disease or disorder"; "MONDO:patterns/specific_infectious_disease_by_agent" . a owl:Class; rdfs:subClassOf ; "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."; , , ; "metal metabolism disorder"; "DOID:896", "MESH:D008664", "UMLS:C0025534"; "metal metabolism, inborn error"; "MONDO:0004689"; rdfs:label "inborn metal metabolism disorder" . _:3cd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."; "DOID:896", "http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism" . _:3cd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metal metabolism disorder"; "CSP2005:4000-0215", "DOID:896" . _:3cd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:896"; "MONDO:equivalentTo" . _:3cd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008664"; "DOID:896", "MONDO:equivalentTo" . _:3cdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025534"; "DOID:896", "MONDO:equivalentTo" . _:3cdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metal metabolism, inborn error"; "MESH:D008664" . a owl:Class; rdfs:subClassOf , ; "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria."; , , , , ; , , ; "DOID:9252", "GARD:0006770", "ICD10:E72.9", "ICD9:270", "ICD9:270.9", "MESH:D000592", "SCTID:42930003"; "inborn cellular amino acid metabolic process disorder", "inborn error of amino acid metabolism", "inborn error of cellular amino acid metabolic process", "inborn errors of amino acid metabolism", "rare inborn error of cellular amino acid metabolic process"; "amino acid metabolic disorder", "amino acid metabolism, inborn errors", "inborn amino acid metabolism disorder", "rare inborn error of cellular amino acid metabolic process"; "MONDO:0004736"; rdfs:label "inherited amino acid metabolic disorder" . _:3ce1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria."; "NCIT:P378" . _:3ce2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9252"; "MONDO:equivalentTo" . _:3ce3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006770"; "MONDO:equivalentTo", "shared-umls-xref" . _:3ce5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.9"; "DOID:9252" . _:3ce8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270"; "DOID:9252" . _:3cead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.9"; "DOID:9252" . _:3cedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000592"; "DOID:9252", "MONDO:equivalentTo", "MONDO:ontobio" . _:3ceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42930003"; "DOID:9252", "MONDO:equivalentTo" . _:3cf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of cellular amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:3cf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn errors of amino acid metabolism"; "DOID:9252" . _:3cf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of cellular amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:3cf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amino acid metabolic disorder"; "DOID:9252" . _:3cf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amino acid metabolism, inborn errors"; "GARD:0006770" . _:3cf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn amino acid metabolism disorder"; "GARD:0006770" . _:3cf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of cellular amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . a owl:Class; rdfs:subClassOf ; "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems."; , ; , , , ; "DOID:9263", "GARD:0010770", "HP:0002156", "ICD10:E72.11", "NCIT:C84765", "SCTID:11282001", "UMLS:C0019880"; "homocystinuria"; "CBS deficiency", "cystathionine beta synthase deficiency", "cystathionine synthase deficiency"; "MONDO:0004737"; rdfs:label "homocystinuria (disease)" . _:3cffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems."; "NCIT:P378" . _:3d0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9263"; "MONDO:equivalentTo" . _:3d0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010770"; "MONDO:equivalentTo" . _:3d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002156"; "MONDO:otherHierarchy", "ontobio" . _:3d0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.11"; "DOID:9263", "MONDO:equivalentTo" . _:3d0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84765"; "DOID:9263", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3d10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:11282001"; "DOID:9263", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.75/1.18" . _:3d12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019880"; "DOID:9263", "MONDO:equivalentTo", "NCIT:C84765" . _:3d14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria"; "MONDO:ambiguous" . _:3d16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBS deficiency"; "DOID:9263" . _:3d17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystathionine beta synthase deficiency"; "DOID:9263" . _:3d19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystathionine synthase deficiency"; "CSP2005:1849-0835", "DOID:9263" . a owl:Class; rdfs:subClassOf ; "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body."; , , , , ; "COHD:434311", "DOID:9267", "ICD10:E72.2", "ICD10:E72.20", "ICD9:270.6", "MESH:D056806", "NCIT:C84785", "SCTID:36444000", "UMLS:C0154246"; "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia", "disorder of urea cycle metabolism", "inborn urea cycle disorder", "urea cycle defect", "urea cycle metabolism disorder"; "MONDO:0004739"; rdfs:label "urea cycle disorder" . _:3d1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body."; "NCIT:P378" . _:3d20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434311"; "MONDO:equivalentTo" . _:3d21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9267"; "MONDO:equivalentTo" . _:3d22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.2"; "DOID:9267" . _:3d23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.20"; "DOID:9267" . _:3d25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.6"; "DOID:9267", "MONDO:equivalentTo", "i2s" . _:3d27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056806"; "DOID:9267", "MONDO:equivalentTo", "MONDO:ontobio" . _:3d28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84785"; "DOID:9267", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3d29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:36444000"; "DOID:9267", "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.72" . _:3d2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154246"; "DOID:9267", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C84785" . _:3d2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia"; "DOID:9267" . _:3d2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of urea cycle metabolism"; "DOID:9267", "ICD9CM_2006:270.6" . _:3d2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn urea cycle disorder"; "NCIT:C84785" . _:3d31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urea cycle defect"; "DOID:9267" . _:3d32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urea cycle metabolism disorder"; "NCIT:C84785" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related."; ; , , , , ; "COHD:30968", "DOID:9409", "GARD:0011934", "ICD10:E23.2", "ICD9:253.5", "MESH:D003919", "NCIT:C43263", "SCTID:15771004", "UMLS:C0011848"; "MONDO:0004782"; rdfs:label "diabetes insipidus" . _:3d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related."; "NCIT:C43263" . _:3d38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:30968"; "MONDO:equivalentTo" . _:3d39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9409"; "MONDO:equivalentTo" . _:3d3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011934"; "MONDO:equivalentTo" . _:3d3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.2"; "DOID:9409", "MONDO:equivalentTo" . _:3d3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.5"; "DOID:9409", "MONDO:equivalentTo", "i2s" . _:3d3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003919"; "DOID:9409", "MONDO:equivalentTo", "MONDO:ontobio" . _:3d42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C43263"; "DOID:9409", "MONDO:equivalentTo", "exact-label-match" . _:3d46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15771004"; "DOID:9409", "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.85/1.62" . _:3d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011848"; "DOID:9409", "MONDO:equivalentTo", "NCIT:C43263" . a owl:Class; rdfs:subClassOf , ; "An acute or chronic inflammatory process affecting the biliary tract."; , ; , , , , ; "COHD:195856", "DOID:9446", "ICD10:K83.0", "ICD9:576.1", "MESH:D002761", "NCIT:C26718", "SCTID:82403002", "UMLS:C0008311"; "biliary tract infection", "biliary tree inflammation", "cholangitis", "inflammation of biliary tree"; "MONDO:0004789"; rdfs:label "cholangitis" . _:3d4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acute or chronic inflammatory process affecting the biliary tract."; "NCIT:C26718" . _:3d53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:195856"; "MONDO:equivalentTo" . _:3d55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9446"; "MONDO:equivalentTo" . _:3d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K83.0"; "DOID:9446", "MONDO:equivalentTo" . _:3d58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:576.1"; "DOID:9446", "MONDO:equivalentTo", "i2s" . _:3d5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002761"; "DOID:9446", "MONDO:equivalentTo", "MONDO:ontobio" . _:3d5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26718"; "DOID:9446", "MONDO:equivalentTo", "exact-label-match" . _:3d5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:82403002"; "DOID:9446", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3d5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008311"; "DOID:9446", "MONDO:equivalentTo", "NCIT:C26718" . _:3d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary tract infection"; "NCIT:C26718" . _:3d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary tree inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:3d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholangitis"; "NCIT:C26718" . a owl:Class; rdfs:subClassOf , , ; "A disease involving leukocytes."; , ; , , , ; "DOID:9500", "ICD10:D72.9", "ICD9:288", "ICD9:288.9", "MESH:D007960", "SCTID:54097007", "UMLS:C0023510"; "disease of leukocyte", "disease or disorder of leukocyte", "disorder of leukocyte", "disorder, leukocyte", "disorders, leukocyte", "leukocyte disease", "leukocyte disease or disorder", "leukocyte disorder", "white blood cell disorder"; "disorder of leukocyte"; "MONDO:0004805"; rdfs:label "leukocyte disease" . _:3d71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving leukocytes."; "MONDO:DesignPattern" . _:3d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9500"; "MONDO:equivalentTo" . _:3d75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D72.9"; "DOID:9500" . _:3d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:288"; "DOID:9500" . _:3d77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:288.9"; "DOID:9500" . _:3d78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007960"; "DOID:9500", "MONDO:equivalentTo" . _:3d79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:54097007"; "DOID:9500", "MONDO:equivalentTo" . _:3d7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023510"; "DOID:9500", "MONDO:equivalentTo" . _:3d80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of leukocyte"; "MONDO:patterns/location_top" . _:3d82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of leukocyte"; "MONDO:patterns/location_top" . _:3d83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, leukocyte"; "MESH:D007960" . _:3d84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, leukocyte"; "MESH:D007960" . _:3d85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leukocyte disease"; "MONDO:patterns/location" . _:3d86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leukocyte disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3d88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leukocyte disorder"; "MESH:D007960" . _:3d8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of leukocyte"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the upper respiratory tract."; , , ; , ; "DOID:974", "ICD9:478.1", "ICD9:478.19", "ICD9:478.9", "SCTID:201060008"; "disease of upper respiratory tract", "disease or disorder of upper respiratory tract", "disorder of upper respiratory tract", "upper respiratory tract disease", "upper respiratory tract disease or disorder"; "disorder of upper respiratory tract"; "MONDO:0004867"; rdfs:label "upper respiratory tract disease" . _:3d91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the upper respiratory tract."; "MONDO:DesignPattern" . _:3d93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:974"; "MONDO:equivalentTo" . _:3d95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:478.1"; "DOID:974" . _:3d97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:478.19"; "DOID:974" . _:3d99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:478.9"; "MONDO:relatedTo", "i2s" . _:3d9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:201060008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.73" . _:3d9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of upper respiratory tract"; "MONDO:patterns/location_top" . _:3d9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of upper respiratory tract"; "MONDO:patterns/location_top" . _:3d9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "upper respiratory tract disease"; "MONDO:patterns/location" . _:3da5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "upper respiratory tract disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of upper respiratory tract"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A neurodegenerative disease that involves the eye."; , , , ; , , ; "DOID:9799", "ICD10:H44.30", "ICD10:H44.5", "ICD9:360.2", "ICD9:360.20", "ICD9:360.29", "ICD9:360.4", "ICD9:360.40", "SCTID:62585004", "UMLS:C0154777"; "degenerative disorder of eye", "eye neurodegenerative disease", "eyeball of camera-type eye neurodegenerative disease", "neurodegenerative disease of eyeball of camera-type eye"; "degenerative disorder of globe"; "MONDO:0004884"; rdfs:label "eye degenerative disease" . _:3dacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neurodegenerative disease that involves the eye."; "MONDO:patterns/location" . _:3dadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9799"; "MONDO:equivalentTo" . _:3db0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H44.30"; "DOID:9799" . _:3db2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H44.5"; "DOID:9799", "MONDO:equivalentTo" . _:3db3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360.2"; "DOID:9799" . _:3db6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360.20"; "DOID:9799", "MONDO:equivalentTo", "i2s" . _:3db7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360.29"; "MONDO:relatedTo", "i2s" . _:3db8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360.4"; "DOID:9799" . _:3dbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360.40"; "DOID:9799" . _:3dbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:62585004"; "DOID:9799", "MONDO:equivalentTo" . _:3dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154777"; "DOID:9799", "MONDO:equivalentTo" . _:3dc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye neurodegenerative disease"; "MONDO:patterns/location" . _:3dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyeball of camera-type eye neurodegenerative disease"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurodegenerative disease of eyeball of camera-type eye"; "MONDO:design_pattern" . a owl:Class; rdfs:subClassOf ; "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)"; ; , , , ; "COHD:376415", "DOID:9834", "ICD10:H52.0", "ICD9:367.0", "MESH:D006956", "SCTID:38101003", "UMLS:C0020490"; "Far-sightedness", "hypermetropia"; "MONDO:0004891"; rdfs:label "hyperopia" . _:3dd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)"; "MESH:D006956" . _:3dd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:376415"; "MONDO:equivalentTo" . _:3dd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9834"; "MONDO:equivalentTo" . _:3dd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H52.0"; "DOID:9834", "MONDO:equivalentTo" . _:3dd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:367.0"; "DOID:9834", "MONDO:equivalentTo", "i2s" . _:3dd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006956"; "DOID:9834", "MONDO:equivalentTo", "MONDO:ontobio" . _:3dd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:38101003"; "DOID:9834", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:3dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020490"; "DOID:9834", "MONDO:equivalentTo" . _:3ddad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Far-sightedness"; "DOID:9834", "MTHICD9_2006:367.0" . _:3dddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermetropia"; "DOID:9834", "ICD9CM_2006:367.0" . a owl:Class; rdfs:subClassOf ; "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia."; , , , ; , , , ; "DOID:9835", "ICD10:H52.7", "MESH:D012030", "SCTID:39021009"; "MONDO:0004892"; rdfs:label "refractive error" . _:3de1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia."; "NCIT:P378" . _:3de2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9835"; "MONDO:equivalentTo" . _:3de3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H52.7"; "DOID:9835" . _:3de4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012030"; "DOID:9835", "MONDO:equivalentTo", "MONDO:ontobio" . _:3de5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:39021009"; "DOID:9835", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.04" . a owl:Class; rdfs:subClassOf ; "A disease involving the head."; , ; "EFO:0000524", "SCTID:118934005", "UMLS:C1290856"; "disease of head", "disease or disorder of head", "disorder of head", "head disease", "head disease or disorder"; "disorder of head"; "MONDO:0005042"; rdfs:label "head disease" . _:3de6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the head."; "MONDO:patterns/location_top" . _:3de7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0000524"; "MONDO:equivalentTo" . _:3de8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:118934005"; "MONDO:equivalentTo" . _:3de9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290856"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:3decd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of head"; "MONDO:patterns/location_top" . _:3dedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of head"; "MONDO:patterns/location_top" . _:3defd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head disease"; "MONDO:patterns/location" . _:3df0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:3df3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of head"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Increased pressure within the pulmonary circulation due to lung or heart disorder."; , , ; , , , ; "DOID:6432", "EFO:0001361", "ICD10:I27.2", "MESH:D006976", "SCTID:70995007"; "MONDO:0005149"; rdfs:label "pulmonary hypertension" . _:3df9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Increased pressure within the pulmonary circulation due to lung or heart disorder."; "NCIT:P378" . _:3dfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6432"; "EFO:0001361", "MONDO:equivalentTo" . _:3dfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0001361"; "MONDO:equivalentTo" . _:3dfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I27.2"; "DOID:6432" . _:3dfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006976"; "DOID:6432", "EFO:0001361", "MONDO:equivalentTo", "MONDO:ontobio" . _:3e00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:70995007"; "DOID:6432", "EFO:0001361", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . a owl:Class; rdfs:subClassOf , , ; "An inherited metabolic disorder characterized by iron accumulation in the tissues."; , , , , , ; , , , ; "haemochromatosis", "hemochromatosis"; "COHD:4148231", "DOID:2352", "EFO:1000642", "GARD:0010746", "ICD10:E83.11", "ICD10:E83.110", "ICD10:E83.119", "MESH:D006432", "NCIT:C84481", "OMIMPS:235200", "SCTID:399187006"; "diabetes bronze", "hemochromatosis, hereditary", "iron storage disorder"; "MONDO:0006507"; rdfs:comment "Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052"; rdfs:label "hereditary hemochromatosis" . _:3e09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited metabolic disorder characterized by iron accumulation in the tissues."; "NCIT:P378" . _:3e0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "haemochromatosis"; "DOID:2352" . _:3e0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemochromatosis"; "DOID:2352" . _:3e0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4148231"; "MONDO:equivalentTo" . _:3e0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2352"; "EFO:1000642", "MONDO:equivalentTo" . _:3e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1000642"; "MONDO:equivalentTo" . _:3e0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010746"; "MONDO:equivalentTo" . _:3e10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.11"; "DOID:2352" . _:3e13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.110"; "DOID:2352", "MONDO:equivalentTo" . _:3e14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.119"; "DOID:2352" . _:3e17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006432"; "DOID:2352", "MONDO:equivalentTo", "MONDO:ontobio" . _:3e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84481"; "DOID:2352", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:3e1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:235200"; "DOID:2352", "MONDO:equivalentTo" . _:3e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:399187006"; "DOID:2352", "MONDO:equivalentTo", "MONDO:kboom-pr-0.85/0.67/0.23" . _:3e22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes bronze"; "CSP2005:1849-4292", "DOID:2352" . _:3e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemochromatosis, hereditary"; "OMIM:235200" . _:3e26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iron storage disorder"; "CSP2005:1630-3927", "DOID:2352" . a owl:Class; rdfs:subClassOf ; "A condition that is characterized by degeneration of the distal phalanges."; ; , , , ; "MESH:D030981", "NCIT:C35545", "OMIM:102400", "SCTID:27201004"; "acroosteolysis"; "MONDO:0007056"; rdfs:label "acroosteolysis" . _:3e28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition that is characterized by degeneration of the distal phalanges."; "NCIT:C35545" . _:3e2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D030981"; "MONDO:equivalentTo", "MONDO:ontobio" . _:3e2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35545"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:3e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102400"; "MONDO:equivalentTo" . _:3e2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:27201004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:3e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acroosteolysis"; "OMIM:102400" . a owl:Class; rdfs:subClassOf ; "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type ii hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein."; ; "OMIM:106100"; "C1 esterase inhibitor, deficiency of", "HAE1", "angioedema, hereditary, type 1", "angioedema, hereditary, type 2", "angioedema, hereditary, type I", "angioedema, hereditary, type I; HAE1", "angioneurotic edema, hereditary"; "MONDO:0007117"; rdfs:comment "OMIM:106100 bundles types I and II"; rdfs:label "angioedema, hereditary, type 1/2" . _:3e35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type ii hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein."; "MESH:D056829" . _:3e36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:106100"; "MONDO:equivalentTo" . _:3e37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C1 esterase inhibitor, deficiency of"; "OMIM:106100" . _:3e39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAE1"; "MONDO:Lexical", "OMIM:106100" . _:3e3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioedema, hereditary, type 1"; "OMIM:106100" . _:3e3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioedema, hereditary, type 2"; "OMIM:106100" . _:3e3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioedema, hereditary, type I"; "MONDO:Lexical", "OMIM:106100" . _:3e3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioedema, hereditary, type I; HAE1"; "OMIM:106100" . _:3e3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioneurotic edema, hereditary"; "OMIM:106100" . _:3e3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "OMIM:106100 bundles types I and II"; "OMIM:106100" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males."; , , , , , ; , , ; "breast tumor", "mammary tumor"; "DOID:1612", "ICD10:C50", "ICD10:C50-C50", "ICD9:174.8", "NCIT:C9335", "SCTID:254837009"; "breast cancer", "cancer of breast", "malignant breast neoplasm", "malignant breast tumor", "malignant neoplasm of breast", "malignant neoplasm of the breast", "malignant tumor of breast", "malignant tumor of the breast", "mammary cancer"; "primary breast cancer"; "mammary neoplasm"; "MONDO:0007254"; rdfs:label "breast cancer" . _:3e42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males."; "NCIT:C9335" . _:3e44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast tumor"; "DOID:1612", "NCIT:C2910" . _:3e46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mammary tumor"; "CSP2005:2016-0671", "DOID:1612" . _:3e48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1612"; "MONDO:equivalentTo" . _:3e4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50"; "DOID:1612", "MONDO:equivalentTo" . _:3e4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50-C50"; "DOID:1612" . _:3e4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:174.8"; "DOID:1612" . _:3e51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9335"; "DOID:1612", "MONDO:equivalentTo" . _:3e56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254837009"; "DOID:1612", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.76/0.66" . _:3e58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast cancer"; "MONDO:patterns/location" . _:3e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of breast"; "MONDO:patterns/cancer" . _:3e61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant breast neoplasm"; "MONDO:patterns/cancer", "NCIT:C9335" . _:3e69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant breast tumor"; "NCIT:C9335" . _:3e6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of breast"; "DOID:1612", "MONDO:patterns/cancer", "NCIT:C9335" . _:3e6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the breast"; "NCIT:C9335" . _:3e6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of breast"; "NCIT:C9335" . _:3e6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the breast"; "DOID:1612", "NCIT:C9335" . _:3e6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mammary cancer"; "DOID:1612" . _:3e6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary breast cancer"; "DOID:1612" . _:3e71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mammary neoplasm"; "DOID:1612" . a owl:Class; rdfs:subClassOf ; , ; , ; "GARD:0002910", "OMIM:146200", "SCTID:237657009"; "FIH", "hypoparathyroidism, familial isolated", "hypoparathyroidism, familial isolated; FIH"; "FIH", "hypoparathyroidism familial isolated", "hypoparathyroidism, autosomal dominant", "hypoparathyroidism, autosomal recessive"; "MONDO:0007796"; ; rdfs:comment "Editor note: check relationship to parent"; rdfs:label "hypoparathyroidism, familial isolated" . _:3e73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002910"; "MONDO:equivalentTo" . _:3e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146200"; "GARD:0002910", "MONDO:equivalentTo" . _:3e76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237657009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.68/0.30/0.22" . _:3e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIH"; "MONDOLEX:0007796"; . _:3e7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, familial isolated"; "MONDO:Lexical", "OMIM:146200" . _:3e7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, familial isolated; FIH"; "MONDOLEX:0007796", "OMIM:146200" . _:3e7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIH"; "MONDO:Lexical", "OMIM:146200" . _:3e81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism familial isolated"; "GARD:0002910" . _:3e86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, autosomal dominant"; "OMIM:146200" . _:3e87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, autosomal recessive"; "OMIM:146200" . a owl:Class; rdfs:subClassOf , ; "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia."; ; , , , , ; "MESH:C563258", "NCIT:C4375", "OMIM:147630", "SCTID:274944000", "UMLS:C1578917"; "Nesidioblastosis", "islet cell adenomatosis"; "INSDM", "INSULINOMATOSIS and diabetes mellitus; INSDM", "Insulinomatosis and diabetes mellitus", "Nesidioblastosis"; "MONDO:0007834"; rdfs:label "islet cell adenomatosis" . _:3e8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia."; "NCIT:C4375" . _:3e90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563258"; "MONDO:equivalentTo", "MONDO:ontobio" . _:3e92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4375"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.21" . _:3e93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147630"; "MONDO:equivalentTo" . _:3e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:274944000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:3e98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1578917"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:147630" . _:3e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nesidioblastosis"; "NCIT:C4375" . _:3e9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "islet cell adenomatosis"; "OMIM:147630" . _:3e9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INSDM"; "OMIM:147630" . _:3ea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INSULINOMATOSIS and diabetes mellitus; INSDM"; "OMIM:147630" . _:3ea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Insulinomatosis and diabetes mellitus"; "OMIM:147630" . _:3ea2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nesidioblastosis"; "NCIT:C4375" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."; , , , , , , ; , , , , , ; "ovarian neoplasm", "ovary neoplasm", "tumor of the ovary"; "COHD:4181351", "DOID:2394", "GARD:0007295", "ICD10:C56", "ICD9:183.0", "MESH:D010051", "NCIT:C7431", "OMIM:167000", "Orphanet:213500", "SCTID:363443007"; "cancer of ovary", "cancer of the ovary", "malignant neoplasm of ovary", "malignant neoplasm of the ovary", "malignant ovarian neoplasm", "malignant ovarian tumor", "malignant ovary neoplasm", "malignant tumor of ovary", "malignant tumor of the ovary", "malignant tumour of ovary", "ovarian cancer", "ovarian malignant tumor", "ovary cancer"; "ovarian cancer, NOS", "ovarian cancer, epithelial", "primary ovarian cancer"; "MONDO:0008170"; rdfs:label "ovarian cancer" . _:3ea3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."; "NCIT:C7431" . _:3ea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian neoplasm"; "DOID:2394", "MTH:NOCODE" . _:3ea5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary neoplasm"; "CSP2005:2016-1387", "DOID:2394" . _:3ea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the ovary"; "DOID:2394", "NCIT:C4984" . _:3ea7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4181351"; "MONDO:equivalentTo" . _:3ea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2394"; "MONDO:equivalentTo" . _:3eaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007295"; "MONDO:equivalentTo", "OMIM-shared" . _:3eabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C56"; "DOID:2394" . _:3eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:183.0"; "DOID:2394", "MONDO:equivalentTo", "i2s" . _:3eafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010051"; "DOID:2394", "MONDO:equivalentTo", "MONDO:ontobio" . _:3eb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7431"; "DOID:2394", "MONDO:equivalentTo" . _:3eb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:167000"; "DOID:2394", "MONDO:equivalentTo" . _:3eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:213500"; "MONDO:equivalentTo" . _:3eb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363443007"; "DOID:2394", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.76/0.39" . _:3eb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of ovary"; "MONDO:patterns/cancer", "NCIT:C7431" . _:3ebad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the ovary"; "NCIT:C7431" . _:3ebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of ovary"; "MONDO:patterns/cancer", "NCIT:C7431" . _:3ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the ovary"; "NCIT:C7431" . _:3ebdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ovarian neoplasm"; "NCIT:C7431" . _:3ebed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ovarian tumor"; "DOID:2394", "NCIT:C7431" . _:3ec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ovary neoplasm"; "MONDO:patterns/cancer" . _:3ec2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of ovary"; "NCIT:C7431" . _:3ec3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the ovary"; "NCIT:C7431" . _:3ec8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumour of ovary"; "DOID:2394" . _:3ecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian cancer"; "NCIT:C7431", "OMIM:167000" . _:3ecbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian malignant tumor"; "Orphanet:213500" . _:3ecdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary cancer"; "MONDO:patterns/location" . _:3ecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian cancer, NOS"; "NCIT:C7431"; . _:3ed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian cancer, epithelial"; "OMIM:167000" . _:3ed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ovarian cancer"; "DOID:2394" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas."; , , , ; , , , , ; ; "prostate neoplasm", "prostatic neoplasm", "tumor of the prostate"; "COHD:4163261", "DOID:10283", "ICD10:C61", "ICD9:185", "MESH:D011471", "NCIT:C7378", "SCTID:399068003", "UMLS:C0376358"; "NGP - new growth of prostate", "cancer of prostate gland", "malignant neoplasm of prostate", "malignant neoplasm of prostate gland", "malignant neoplasm of the prostate", "malignant prostate gland neoplasm", "malignant prostate neoplasm", "malignant prostate tumor", "malignant tumor of prostate", "malignant tumor of the prostate", "prostate cancer", "prostate cancer, familial", "prostate gland cancer", "prostatic cancer"; "hereditary prostate cancer"; "MONDO:0008315"; ; rdfs:label "prostate cancer" . _:3eefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas."; "NCIT:C7378" . _:3ef1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1331" . _:3ef2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate neoplasm"; "CSP2005:2016-2641", "DOID:10283" . _:3ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostatic neoplasm"; "DOID:10283" . _:3ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the prostate"; "DOID:10283", "NCIT:C3343" . _:3ef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4163261"; "MONDO:equivalentTo" . _:3ef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10283"; "MONDO:equivalentTo" . _:3ef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C61"; "DOID:10283", "ORDO:1331/attributed", "ORDO:1331/ntbt", "Orphanet:1331" . _:3efbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:185"; "DOID:10283", "MONDO:equivalentTo", "i2s" . _:3efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011471"; "DOID:10283", "MONDO:equivalentTo" . _:3f03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7378"; "DOID:10283", "MONDO:equivalentTo" . _:3f06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:399068003"; "DOID:10283", "MONDO:equivalentTo", "MONDO:kboom-pr-0.80/0.58/0.09" . _:3f08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0376358"; "DOID:10283", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C7378", "OMIM:176807" . _:3f0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NGP - new growth of prostate"; "DOID:10283" . _:3f0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of prostate gland"; "MONDO:patterns/cancer" . _:3f0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of prostate"; "NCIT:C7378" . _:3f0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of prostate gland"; "MONDO:patterns/cancer" . _:3f0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the prostate"; "NCIT:C7378" . _:3f0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant prostate gland neoplasm"; "MONDO:patterns/cancer" . _:3f10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant prostate neoplasm"; "NCIT:C7378" . _:3f11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant prostate tumor"; "NCIT:C7378" . _:3f12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of prostate"; "NCIT:C7378" . _:3f16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the prostate"; "DOID:10283", "NCIT:C7378" . _:3f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate cancer"; "OMIM:176807" . _:3f1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate cancer, familial"; "DOID:10283", "MESH:C537243" . _:3f1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate gland cancer"; "MONDO:patterns/location" . _:3f20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostatic cancer"; "CSP2005:2016-2641", "DOID:10283" . _:3f22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary prostate cancer"; "DOID:10283" . _:3f24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1331" . a owl:Class; rdfs:subClassOf ; , ; "MESH:C566046", "OMIM:188740"; "tibia, hypoplasia or aplasia of, with polydactyly"; "THYP", "tibia, hypoplasia or aplasia of, with polydactyly; THYP", "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia"; "MONDO:0008572"; rdfs:label "tibia, hypoplasia or aplasia of, with polydactyly" . _:3f2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566046"; "MONDO:equivalentTo", "MONDO:ontobio" . _:3f2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188740"; "MONDO:equivalentTo" . _:3f2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tibia, hypoplasia or aplasia of, with polydactyly"; "MONDO:Lexical", "OMIM:188740" . _:3f2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THYP"; "MONDO:Lexical", "OMIM:188740" . _:3f30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tibia, hypoplasia or aplasia of, with polydactyly; THYP"; "OMIM:188740" . _:3f36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia"; "OMIM:188740" . a owl:Class; rdfs:subClassOf ; , , , ; , ; "GARD:0009185", "OMIM:209950", "UMLS:C4011949"; "immunodeficiency 27A", "immunodeficiency type 27A"; "IFNGR1 deficiency, autosomal recessive", "IMD27A", "atypical mycobacterial infection, disseminated", "atypical mycobacterial infection, familial disseminated", "atypical mycobacteriosis, familial", "immunodeficiency 27A, Mycobacteriosis, autosomal recessive", "immunodeficiency 27A; IMD27A", "mycobacterial disease, Mendelian susceptibility to"; "MONDO:0008856"; rdfs:label "immunodeficiency 27A" . _:3f3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009185"; "MONDO:equivalentTo", "OMIM-shared" . _:3f40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209950"; "MONDO:equivalentTo" . _:3f41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4011949"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:3f42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 27A"; "MONDO:Lexical", "OMIM:209950" . _:3f43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 27A"; "MONDORULE:4", "OMIM:209950" . _:3f45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR1 deficiency, autosomal recessive"; "OMIM:209950" . _:3f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD27A"; "MONDO:Lexical", "OMIM:209950" . _:3f49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical mycobacterial infection, disseminated"; "GARD:0009185" . _:3f4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical mycobacterial infection, familial disseminated"; "GARD:0009185" . _:3f4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical mycobacteriosis, familial"; "GARD:0009185" . _:3f4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 27A, Mycobacteriosis, autosomal recessive"; "OMIM:209950" . _:3f50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 27A; IMD27A"; "OMIM:209950" . _:3f52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mycobacterial disease, Mendelian susceptibility to"; "GARD:0009185" . a owl:Class; rdfs:subClassOf ; "A disorder of the blood that is present at birth."; ; "NCIT:C104003"; "congenital hematological disorder", "congenital hematological system disease"; "MONDO:0009332"; rdfs:label "congenital hematological disorder" . _:3f55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder of the blood that is present at birth."; "NCIT:C104003" . _:3f57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C104003"; "MONDO:equivalentTo" . _:3f59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hematological disorder"; "NCIT:C104003" . _:3f5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hematological system disease"; "MONDO:patterns/congenital" . a owl:Class; rdfs:subClassOf ; "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene."; ; , , ; "DOID:0070219", "OMIM:256450", "SCTID:360339005"; "ABCC8 hyperinsulinemic hypoglycemia (disease)", "hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8", "hyperinsulinemic hypoglycemia due to SUR1 deficiency", "hyperinsulinemic hypoglycemia, familial, 1", "hyperinsulinemic hypoglycemia, familial, type 1"; "HHF1", "Nesidioblastosis of pancreas", "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia", "hyperinsulinemic hypoglycemia, familial, 1; HHF1", "hyperinsulinism, congenital", "hyperinsulinism, familial, with pancreatic Nesidioblastosis", "hypoglycemia, hyperinsulinemic, of infancy", "persistent hyperinsulinemic hypoglycemia of infancy"; "MONDO:0009734"; rdfs:label "hyperinsulinemic hypoglycemia, familial, 1" . _:3f64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene."; "MONDO:patterns/disease_series_by_gene" . _:3f65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070219"; "MONDO:equivalentTo" . _:3f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256450"; "MONDO:equivalentTo" . _:3f67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:360339005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.72/0.41/0.16" . _:3f68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCC8 hyperinsulinemic hypoglycemia (disease)"; "MONDO:patterns/disease_series_by_gene" . _:3f69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to SUR1 deficiency"; "MONDO:cjm" . _:3f6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 1"; "MONDO:Lexical", "OMIM:256450" . _:3f6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, type 1"; "MONDORULE:1", "OMIM:256450" . _:3f6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHF1"; "MONDO:Lexical", "OMIM:256450" . _:3f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nesidioblastosis of pancreas"; "OMIM:256450" . _:3f6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia"; "OMIM:256450" . _:3f70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 1; HHF1"; "OMIM:256450" . _:3f71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism, congenital"; "OMIM:256450" . _:3f72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism, familial, with pancreatic Nesidioblastosis"; "OMIM:256450" . _:3f73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoglycemia, hyperinsulinemic, of infancy"; "OMIM:256450" . _:3f74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent hyperinsulinemic hypoglycemia of infancy"; "OMIM:256450" . a owl:Class; rdfs:subClassOf ; "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene."; , , , , , ; "DOID:0060561", "DOID:0110461", "ICD10:I42.0", "ICD9:425.4", "MESH:C580047", "OMIM:302045", "SCTID:702424003", "UMLS:C3668940"; "CMD3B", "DMD dilated cardiomyopathy", "cardiomyopathy, dilated, type 3B", "dilated cardiomyopathy caused by mutation in DMD", "dilated cardiomyopathy type 3B"; "DMD-related dilated cardiomyopathy", "X-linked dilated cardiomyopathy", "cardiomyopathy, dilated, 3B", "cardiomyopathy, dilated, 3B; CMD3B", "cardiomyopathy, dilated, X-linked"; "MONDO:0010542"; rdfs:label "dilated cardiomyopathy 3B" . _:3f7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene."; "MONDO:patterns/disease_series_by_gene" . _:3f7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060561"; "MONDO:equivalentTo" . _:3f7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110461"; "MONDO:equivalentTo" . _:3f80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.0"; "DOID:0110461", "MONDO:subClassOf" . _:3f86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.4"; "MONDO:relatedTo", "i2s" . _:3f87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580047"; "DOID:0060561", "MONDO:equivalentTo" . _:3f8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:302045"; "DOID:0110461", "MONDO:equivalentTo" . _:3f8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:702424003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3f8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3668940"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:302045" . _:3f90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMD3B"; "DOID:0110461", "MONDO:Lexical", "OMIM:302045" . _:3f92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMD dilated cardiomyopathy"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:3f93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, dilated, type 3B"; "MONDORULE:4", "OMIM:302045" . _:3f94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dilated cardiomyopathy caused by mutation in DMD"; "MONDO:design_pattern" . _:3f95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dilated cardiomyopathy type 3B"; "DOID:0110461", "MONDORULE:4" . _:3f97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMD-related dilated cardiomyopathy"; "DOID:0060561" . _:3f9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked dilated cardiomyopathy"; "DOID:0110461" . _:3f9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, dilated, 3B"; "MONDO:Lexical", "OMIM:302045" . _:3f9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, dilated, 3B; CMD3B"; "OMIM:302045" . _:3fa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, dilated, X-linked"; "OMIM:302045" . a owl:Class; rdfs:subClassOf ; "X-linked form of dyskeratosis congenita."; , ; , , , ; "DOID:0070025", "GARD:0002007", "NCIT:C126352", "OMIM:305000", "SCTID:708536001"; "DKCX", "Hoyeraal Hreidarsson syndrome", "X-linked dyskeratosis congenita", "Zinsser-Cole-Engman syndrome", "dyskeratosis congenita, X-linked"; "DKCX", "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia", "Hoyeraal-Hreidarsson syndrome", "X-linked dyskeratosis congenita", "cerebellar hypoplasia with pancytopenia", "dyskeratosis congenita X-linked", "dyskeratosis congenita, X-linked; DKCX"; "MONDO:0010584"; rdfs:label "dyskeratosis congenita, X-linked" . _:3fa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked form of dyskeratosis congenita."; "MONDO:patterns/x_linked" . _:3fa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070025"; "MONDO:equivalentTo" . _:3fa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002007"; "MONDO:equivalentTo" . _:3fa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126352"; "MONDO:equivalentTo" . _:3fa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:305000"; "DOID:0070025", "MONDO:equivalentTo" . _:3facd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:708536001"; "MONDO:equivalentTo" . _:3fadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DKCX"; "DOID:0070025" . _:3fafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hoyeraal Hreidarsson syndrome"; "NCIT:C126352" . _:3fb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zinsser-Cole-Engman syndrome"; "DOID:0070025", "OMIM:305000" . _:3fb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dyskeratosis congenita, X-linked"; "MONDO:Lexical", "MONDO:patterns/x_linked", "OMIM:305000" . _:3fb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DKCX"; "GARD:0002007", "MONDO:Lexical", "OMIM:305000" . _:3fb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia"; "OMIM:305000" . _:3fb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hoyeraal-Hreidarsson syndrome"; "OMIM:305000" . _:3fbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked dyskeratosis congenita"; "DOID:0070025", "GARD:0002007" . _:3fbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar hypoplasia with pancytopenia"; "OMIM:305000" . _:3fbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dyskeratosis congenita X-linked"; "GARD:0002007" . _:3fbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dyskeratosis congenita, X-linked; DKCX"; "OMIM:305000" . a owl:Class; rdfs:subClassOf ; "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones."; , , , , ; , , , ; "COHD:136934", "DOID:11202", "EFO:0008519", "GARD:0008612", "HP:0008200", "ICD10:E21.0", "ICD9:252.01", "MESH:D049950", "NCIT:C48280", "SCTID:36348003"; "familial benign hypercalcemia", "familial primary hyperparathyroidism", "primary hyperparathyroidism"; "MONDO:0010837"; rdfs:comment "Editor note: check relationship to parent and familiar form"; rdfs:label "primary hyperparathyroidism (disease)" . _:3fbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones."; "NCIT:P378" . _:3fbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:136934"; "MONDO:equivalentTo" . _:3fc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11202"; "MONDO:equivalentTo" . _:3fc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0008519"; "MONDO:equivalentTo" . _:3fc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008612"; "MONDO:equivalentTo" . _:3fc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0008200"; "MONDO:otherHierarchy", "ontobio" . _:3fc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E21.0"; "DOID:11202" . _:3fc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:252.01"; "DOID:11202", "MONDO:equivalentTo", "i2s" . _:3fcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D049950"; "DOID:11202", "MONDO:equivalentTo" . _:3fcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C48280"; "DOID:11202", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:3fd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:36348003"; "DOID:11202", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.13" . _:3fd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial benign hypercalcemia"; "DOID:11202" . _:3fd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hyperparathyroidism"; "DOID:11202" . _:3fd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hyperparathyroidism"; "MONDO:ambiguous", "NCIT:C48280" . a owl:Class; rdfs:subClassOf ; "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene."; ; , , ; "DOID:0060712", "GARD:0009733", "ICD10:Q80.2", "MESH:C537264", "OMIM:601277"; "ARCI4A", "ICR2B", "autosomal recessive congenital ichthyosis type 4A", "ichthyosis congenita IIB", "ichthyosis, congenital, autosomal recessive type 4A", "lamellar ichthyosis 2"; "LI2", "ichthyosis congenita 2B", "ichthyosis lamellar 2", "ichthyosis, congenital, autosomal recessive 4A", "ichthyosis, congenital, autosomal recessive 4A; ARCI4A", "ichthyosis, lamellar, 2", "ichthyosis, lamellar, 2, formerly", "lamellar ichthyosis, type 2"; "MONDO:0011026"; rdfs:label "autosomal recessive congenital ichthyosis 4A" . _:3fddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene."; "MONDO:patterns/disease_series_by_gene" . _:3fdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060712"; "MONDO:equivalentTo" . _:3fe0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009733"; "MONDO:equivalentTo", "OMIM-shared" . _:3fe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q80.2"; "DOID:0060712" . _:3fe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537264"; "MONDO:equivalentTo", "MONDO:ontobio" . _:3fe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601277"; "DOID:0060712", "MONDO:equivalentTo" . _:3fe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARCI4A"; "DOID:0060712", "MONDO:Lexical", "OMIM:601277" . _:3fead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICR2B"; "DOID:0060712" . _:3fecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive congenital ichthyosis type 4A"; "DOID:0060712", "MONDORULE:4" . _:3fefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis congenita IIB"; "DOID:0060712" . _:3ff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, congenital, autosomal recessive type 4A"; "MONDORULE:4", "OMIM:601277" . _:3ff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lamellar ichthyosis 2"; "DOID:0060712" . _:3ff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LI2"; "GARD:0009733" . _:3ff5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis congenita 2B"; "OMIM:601277" . _:3ff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis lamellar 2"; "GARD:0009733" . _:3ff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, congenital, autosomal recessive 4A"; "MONDO:Lexical", "OMIM:601277" . _:3ffad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, congenital, autosomal recessive 4A; ARCI4A"; "OMIM:601277" . _:3ffbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, lamellar, 2"; "OMIM:601277" . _:3ffdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, lamellar, 2, formerly"; "OMIM:601277" . _:3ffed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lamellar ichthyosis, type 2"; "GARD:0009733" . a owl:Class; rdfs:subClassOf , ; "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene."; , ; , , ; "DOID:0070218", "GARD:0009927", "OMIM:601820", "UMLS:C2931833"; "KCNJ11 hyperinsulinemic hypoglycemia (disease)", "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11", "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "hyperinsulinemic hypoglycemia, familial, 2", "hyperinsulinemic hypoglycemia, familial, type 2"; "HHF2", "Nesidioblastosis", "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia", "hyperinsulinemic hypoglycemia familial 2", "hyperinsulinemic hypoglycemia, familial, 2; HHF2", "hyperinsulinemic hypoglycemia, persistent", "hyperinsulinism, congenital", "hyperinsulinism, familial", "hyperinsulinism, neonatal", "persistent hyperinsulinemic hypoglycemia of infancy"; "MONDO:0011153"; ; rdfs:label "hyperinsulinemic hypoglycemia, familial, 2"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2"^^xsd:anyURI . _:4004d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene."; "MONDO:patterns/disease_series_by_gene" . _:4006d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070218"; "MONDO:equivalentTo" . _:4008d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009927"; "MONDO:equivalentTo" . _:4020d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601820"; "GARD:0009927", "MONDO:equivalentTo" . _:4025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931833"; "GARD:0009927", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "OMIM:601820" . _:4026d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCNJ11 hyperinsulinemic hypoglycemia (disease)"; "MONDO:patterns/disease_series_by_gene" . _:4028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"; "MONDO:cjm" . _:4029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 2"; "MONDO:Lexical", "OMIM:601820" . _:402cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, type 2"; "MONDORULE:1", "OMIM:601820" . _:402ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHF2"; "GARD:0009927", "MONDO:Lexical", "OMIM:601820" . _:402fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nesidioblastosis"; "OMIM:601820" . _:4030d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia"; "OMIM:601820" . _:4031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia familial 2"; "GARD:0009927" . _:4032d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 2; HHF2"; "OMIM:601820" . _:4033d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, persistent"; "OMIM:601820" . _:4034d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism, congenital"; "OMIM:601820" . _:4035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism, familial"; "OMIM:601820" . _:4036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism, neonatal"; "OMIM:601820" . _:4037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent hyperinsulinemic hypoglycemia of infancy"; "OMIM:601820" . _:4038d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2"^^xsd:anyURI; "GARD:0009927" . a owl:Class; rdfs:subClassOf , ; "Autosomal recessive form of craniosynostosis."; , , ; "MESH:C564700", "OMIM:606529", "UMLS:C1847865"; "autosomal recessive craniosynostosis", "craniosynostosis syndrome, autosomal recessive", "craniosynostosis, autosomal recessive"; "MONDO:0011679"; rdfs:label "craniosynostosis syndrome, autosomal recessive" . _:403ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive form of craniosynostosis."; "MONDO:patterns/autosomal_recessive" . _:403cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564700"; "MONDO:equivalentTo", "MONDO:ontobio" . _:403ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606529"; "MONDO:equivalentTo" . _:4040d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1847865"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:606529" . _:4042d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive craniosynostosis"; "MONDO:design_pattern" . _:4044d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniosynostosis syndrome, autosomal recessive"; "OMIM:606529" . _:4045d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniosynostosis, autosomal recessive"; "MONDO:design_pattern", "MONDO:patterns/autosomal_recessive" . a owl:Class; rdfs:subClassOf , ; ; , , ; "ICD9:279.8", "MESH:C562875", "OMIM:609814", "SCTID:234622003"; "complement factor H deficiency"; "CFHD", "Cfh deficiency", "complement factor H deficiency; CFHD", "factor H deficiency"; "MONDO:0012350"; rdfs:label "complement factor H deficiency" . _:4049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.8"; "MONDO:relatedTo", "i2s" . _:404bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562875"; "MONDO:equivalentTo", "MONDO:ontobio" . _:404dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609814"; "MONDO:equivalentTo" . _:404ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234622003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.77/5.73" . _:4050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement factor H deficiency"; "MONDO:Lexical", "OMIM:609814" . _:4053d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFHD"; "MONDO:Lexical", "OMIM:609814" . _:4055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cfh deficiency"; "OMIM:609814" . _:4056d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement factor H deficiency; CFHD"; "OMIM:609814" . _:4057d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor H deficiency"; "OMIM:609814" . a owl:Class; rdfs:subClassOf ; ; "OMIM:613985"; "beta-thalassemia"; "MONDO:0013517"; rdfs:comment "Editor note: consider merging into parent"; rdfs:label "beta-thalassemia HBB/LCRB" . _:4058d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613985"; "MONDO:equivalentTo" . _:4059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "beta-thalassemia"; "OMIM:613985" . a owl:Class; rdfs:subClassOf , ; "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene."; , ; "ICD9:696.1", "OMIM:614204", "SCTID:83839005"; "IL36RN psoriasis", "psoriasis 14, pustular", "psoriasis caused by mutation in IL36RN"; "Interleukin 36 receptor antagonist deficiency", "PSORS14", "Psorp", "acrodermatitis continua of Hallopeau", "generalized pustular psoriasis", "palmoplantar pustulosis", "psoriasis 14, pustular; PSORS14"; "MONDO:0013626"; rdfs:label "psoriasis 14, pustular" . _:405fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene."; "MONDO:patterns/disease_series_by_gene" . _:4060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:696.1"; "MONDO:relatedTo", "i2s" . _:4062d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614204"; "MONDO:equivalentTo" . _:4063d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:83839005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.45/0.24" . _:4064d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL36RN psoriasis"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:4065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "psoriasis 14, pustular"; "MONDO:Lexical", "OMIM:614204" . _:4066d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "psoriasis caused by mutation in IL36RN"; "MONDO:design_pattern" . _:4067d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Interleukin 36 receptor antagonist deficiency"; "OMIM:614204" . _:4068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSORS14"; "MONDO:Lexical", "OMIM:614204" . _:4069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Psorp"; "OMIM:614204" . _:406ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrodermatitis continua of Hallopeau"; "OMIM:614204" . _:406bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalized pustular psoriasis"; "OMIM:614204" . _:406cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palmoplantar pustulosis"; "OMIM:614204" . _:406dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "psoriasis 14, pustular; PSORS14"; "OMIM:614204" . a owl:Class; rdfs:subClassOf , ; "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene."; , ; "OMIM:614889", "UMLS:C4013947"; "IFNGR2 primary immunodeficiency disease", "immunodeficiency 28", "immunodeficiency type 28", "primary immunodeficiency disease caused by mutation in IFNGR2"; "IMD28", "Ifngr2 deficiency", "immunodeficiency 28, Mycobacteriosis", "immunodeficiency 28; IMD28"; "MONDO:0013953"; rdfs:label "immunodeficiency 28" . _:4074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene."; "MONDO:patterns/disease_series_by_gene" . _:4076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614889"; "MONDO:equivalentTo" . _:4077d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4013947"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:4079d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR2 primary immunodeficiency disease"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:407ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 28"; "MONDO:Lexical", "OMIM:614889" . _:407cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 28"; "MONDORULE:2", "OMIM:614889" . _:407ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary immunodeficiency disease caused by mutation in IFNGR2"; "MONDO:design_pattern" . _:407fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD28"; "MONDO:Lexical", "OMIM:614889" . _:4082d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ifngr2 deficiency"; "OMIM:614889" . _:4083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 28, Mycobacteriosis"; "OMIM:614889" . _:4085d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 28; IMD28"; "OMIM:614889" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:100091", "UMLS:CN197370"; "MONDO:0015077"; ; rdfs:comment "Editor note: consider merging"; rdfs:label "adrenal/paraganglial tumor" . _:4088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:100091"; "MONDO:equivalentTo" . _:4089d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197370"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:408ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100091" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:101936", "UMLS:CN197468"; "MONDO:0015111"; , ; rdfs:label "gastroesophageal disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:408cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:101936"; "MONDO:equivalentTo" . _:408ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197468"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101936" . a owl:Class; rdfs:subClassOf ; ; ; "Orphanet:101944"; "MONDO:0015118"; , ; rdfs:comment "Editor note: TODO merge with parent, distinction in ORDO not clear"; rdfs:label "rare pulmonary disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4095d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:101944"; "MONDO:equivalentTo" . _:4096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101944" . a owl:Class; rdfs:subClassOf ; ; "ICD10:E31.0", "ICD10:E31.1", "ICD10:E31.8", "ICD10:E31.9", "Orphanet:101956"; "MONDO:0015126"; ; rdfs:label "polyendocrinopathy" . _:4099d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.0"; "MONDO:superClassOf", "ORDO:101956/btnt", "Orphanet:101956" . _:409ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.1"; "ORDO:101956/btnt", "Orphanet:101956" . _:409ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.8"; "ORDO:101956/btnt", "Orphanet:101956" . _:409fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.9"; "ORDO:101956/btnt", "Orphanet:101956" . _:40a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:101956"; "MONDO:equivalentTo" . _:40a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101956" . a owl:Class; rdfs:subClassOf ; "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary."; , , , ; ; "MedDRA:10052381", "NCIT:C113172", "Orphanet:101958", "UMLS:C3887896"; "MONDO:0015128"; ; rdfs:label "primary adrenal insufficiency" . _:40a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary."; "NCIT:C113172" . _:40a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C113172" . _:40abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10052381"; "ORDO:101958/e", "Orphanet:101958" . _:40acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C113172"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:40afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:101958"; "MONDO:equivalentTo" . _:40b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3887896"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C113172" . _:40b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101958" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:101985"; "MONDO:0015133"; ; rdfs:comment "Editor note: check how relates to phagocytosis terms"; rdfs:label "quantitative and/or qualitative congenital phagocyte defect" . _:40b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:101985"; "MONDO:equivalentTo" . _:40b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101985" . a owl:Class; rdfs:subClassOf ; "fevers of unknown etiology recurring over months or years."; , , , , ; "ICD10:E85.0", "MedDRA:10034533", "NCIT:C118240", "Orphanet:101995", "UMLS:C0015974", "UMLS:C3889979"; "MONDO:0015137"; ; rdfs:label "periodic fever syndrome" . _:40b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fevers of unknown etiology recurring over months or years."; "NCIT:C118240" . _:40bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "ORDO:101995/ntbt", "Orphanet:101995" . _:40bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034533"; "ORDO:101995/e", "Orphanet:101995" . _:40c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C118240"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:40c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:101995"; "MONDO:equivalentTo" . _:40c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015974"; "MONDO:equivalentTo", "ORDO:101995/e", "Orphanet:101995" . _:40cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3889979"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C118240" . _:40ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101995" . a owl:Class; rdfs:subClassOf , , ; "An inflammatory disease involving a pathogenic inflammatory response in the brain."; , ; "Orphanet:102005", "UMLS:CN197488"; "brain inflammation", "inflammation of brain"; "MONDO:0015144"; ; rdfs:label "brain inflammatory disease" . _:40ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inflammatory disease involving a pathogenic inflammatory response in the brain."; "MONDO:patterns/inflammatory_disease_by_site" . _:40cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:102005"; "MONDO:equivalentTo" . _:40d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197488"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:40d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:40d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102005" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E85.0", "Orphanet:102237", "UMLS:CN197498"; "MONDO:0015158"; ; rdfs:label "unexplained periodic fever syndrome" . _:40d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "ORDO:102237/ntbt", "Orphanet:102237" . _:40d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:102237"; "MONDO:equivalentTo" . _:40d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197498"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:40d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102237" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:102285"; "MCA without intellectual disability", "multiple congenital anomalies without intellectual disability with or without dysmorphism"; "MONDO:0015161"; ; rdfs:label "multiple congenital anomalies/dysmorphic syndrome without intellectual disability" . _:40d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:102285"; "MONDO:equivalentTo" . _:40dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCA without intellectual disability"; "Orphanet:102285" . _:40ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple congenital anomalies without intellectual disability with or without dysmorphism"; "Orphanet:102285" . _:40e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102285" . a owl:Class; rdfs:subClassOf ; "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility."; , ; , , , , , , ; "DOID:10605", "GARD:0001502", "ICD9:579.3", "MESH:D012778", "MedDRA:10049416", "NCIT:C99059", "Orphanet:104008", "SCTID:26629001", "UMLS:C0036992"; "acquired short bowel syndrome", "short gut syndrome"; "MONDO:0015183"; , ; rdfs:label "short bowel syndrome"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome"^^xsd:anyURI . _:40ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility."; "Orphanet:104008" . _:40ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10605"; "MONDO:equivalentTo" . _:40eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001502"; "MONDO:equivalentTo" . _:40efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:579.3"; "MONDO:relatedTo", "i2s" . _:40f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012778"; "DOID:10605", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:104008/e", "Orphanet:104008" . _:40f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049416"; "ORDO:104008/e", "Orphanet:104008" . _:40f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99059"; "DOID:10605", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:40f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:104008"; "MONDO:equivalentTo" . _:40fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:26629001"; "DOID:10605", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:40fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036992"; "DOID:10605", "MONDO:equivalentTo", "NCIT:C99059", "ORDO:104008/e", "Orphanet:104008" . _:40fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acquired short bowel syndrome"; "DOID:10605" . _:40ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short gut syndrome"; "CSP2005:0724-8009", "DOID:10605" . _:4100d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0001502" . _:4101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:104008" . _:4102d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome"^^xsd:anyURI; "GARD:0001502" . a owl:Class; rdfs:subClassOf ; , , , , , ; "MedDRA:10057018", "Orphanet:104010", "SCTID:254589009", "UMLS:C0345891", "UMLS:CN197525"; "MONDO:0015185"; ; rdfs:label "intestinal polyposis syndrome" . _:4105d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10057018"; "ORDO:104010/e", "Orphanet:104010" . _:4107d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:104010"; "MONDO:equivalentTo" . _:4108d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254589009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:410bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345891"; "MONDO:equivalentTo", "ORDO:104010/e", "Orphanet:104010" . _:410dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197525"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4111d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:104010" . a owl:Class; rdfs:subClassOf ; "Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms)."; , ; , , , , , , ; ; "COHD:432282", "DOID:8955", "GARD:0000667", "ICD10:D64.0", "ICD10:D64.1", "ICD10:D64.2", "ICD10:D64.3", "ICD9:285.0", "MESH:D000756", "MedDRA:10040661", "NCIT:C36078", "OMIMPS:300751", "Orphanet:1047", "SCTID:41841004", "UMLS:C0002896"; "anemia sideroblastic", "anemia, hypochromic with iron loading", "anemia, sideroblastic", "sideroblastic anemia"; "MONDO:0015194"; ; rdfs:label "sideroblastic anemia" . _:4114d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms)."; "Orphanet:1047" . _:4115d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:8955" . _:4116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:432282"; "MONDO:equivalentTo" . _:4117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8955"; "MONDO:equivalentTo" . _:411ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000667"; "MONDO:equivalentTo" . _:411cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.0"; "ORDO:1047/btnt", "Orphanet:1047" . _:4132d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.1"; "ORDO:1047/btnt", "Orphanet:1047" . _:4134d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.2"; "ORDO:1047/btnt", "Orphanet:1047" . _:4135d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.3"; "DOID:8955", "ORDO:1047/btnt", "Orphanet:1047" . _:4137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:285.0"; "DOID:8955", "MONDO:equivalentTo", "i2s" . _:413ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000756"; "DOID:8955", "MONDO:equivalentTo", "ORDO:1047/e", "Orphanet:1047" . _:413cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10040661"; "ORDO:1047/e", "Orphanet:1047" . _:413ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C36078"; "DOID:8955", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:4140d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:300751"; "MONDO:cjm", "MONDO:equivalentTo" . _:4142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:1047"; "MONDO:equivalentTo" . _:4144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:41841004"; "DOID:8955", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:4146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002896"; "DOID:8955", "MONDO:equivalentTo", "NCIT:C36078", "ORDO:1047/e", "Orphanet:1047" . _:414ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia sideroblastic"; "DOID:8955", "MTH:NOCODE" . _:414cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, hypochromic with iron loading"; "DOID:8955", "MTHICD9_2006:285.0" . _:414dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, sideroblastic"; "OMIMPS:300751" . _:4150d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sideroblastic anemia"; "MONDO:0004688" . _:4153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1047" . a owl:Class; rdfs:subClassOf ; "A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome."; ; "Orphanet:108977"; "isolated diaphragmatic or abdominal wall malformation", "nonsyndromic diaphragmatic or abdominal wall malformation"; "isolated diaphragmatic or abdominal wall malformation"; "MONDO:0015215"; ; rdfs:label "non-syndromic diaphragmatic or abdominal wall malformation" . _:4155d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:4159d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:108977"; "MONDO:equivalentTo" . _:415cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic diaphragmatic or abdominal wall malformation"; "MONDO:DesignPattern", "MONDO:patterns/isolated" . _:415dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated diaphragmatic or abdominal wall malformation"; "MONDO:DesignPattern" . _:415ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108977" . a owl:Class; rdfs:subClassOf , ; "A diaphragmatic or abdominal wall malformation that is part of a larger syndrome."; , ; "Orphanet:108979", "UMLS:CN226633"; "syndrome associated with diaphragmatic or abdominal wall malformation", "syndromic diaphragmatic or abdominal wall malformation"; "syndrome associated with diaphragmatic or abdominal wall malformation"; "MONDO:0015216"; ; rdfs:label "syndromic diaphragmatic or abdominal wall malformation" . _:4161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A diaphragmatic or abdominal wall malformation that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:4162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:108979"; "MONDO:equivalentTo" . _:4163d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226633"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4164d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with diaphragmatic or abdominal wall malformation"; "MONDO:patterns/syndromic" . _:4165d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic diaphragmatic or abdominal wall malformation"; "MONDO:patterns/syndromic" . _:4168d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with diaphragmatic or abdominal wall malformation"; "MONDO:patterns/syndromic" . _:4169d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108979" . a owl:Class; rdfs:subClassOf , ; "A respiratory or mediastinal malformation that is part of a larger syndrome."; , ; "Orphanet:108995", "UMLS:CN226638"; "syndrome associated with respiratory or mediastinal malformation", "syndromic respiratory or mediastinal malformation"; "syndrome associated with respiratory or mediastinal malformation"; "MONDO:0015222"; ; rdfs:label "syndromic respiratory or mediastinal malformation" . _:416cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A respiratory or mediastinal malformation that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:416dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:108995"; "MONDO:equivalentTo" . _:416ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226638"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with respiratory or mediastinal malformation"; "MONDO:patterns/syndromic" . _:4174d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic respiratory or mediastinal malformation"; "MONDO:patterns/syndromic" . _:4176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with respiratory or mediastinal malformation"; "MONDO:patterns/syndromic" . _:4179d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108995" . a owl:Class; rdfs:subClassOf , ; "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy."; , ; , , , , , , , ; "DOID:3973", "GARD:0007004", "HP:0002865", "ICD10:C73", "MedDRA:10027101", "NCIT:C3879", "ONCOTREE:THME", "Orphanet:1332", "SCTID:255032005", "UMLS:C0206693", "UMLS:C0238462"; "C cell carcinoma", "MTC", "carcinoma of parafollicular cell", "carcinoma, C-cell, malignant", "medullary Thyroid cancer", "medullary Thyroid carcinoma", "medullary Thyroid gland carcinoma", "medullary carcinoma", "medullary carcinoma of Thyroid", "medullary carcinoma of Thyroid gland", "medullary carcinoma of the Thyroid", "medullary carcinoma of the Thyroid gland", "medullary thyroid cancer", "medullary thyroid carcinoma", "parafollicular cell carcinoma", "thyroid gland medullary cancer", "thyroid gland medullary carcinoma", "thyroid gland neuroendocrine carcinoma", "thyroid medullary carcinoma", "ultimobranchial thyroid tumor", "ultimobranchial thyroid tumour"; "THME", "medullary thyroid cancer (MTC)", "thyroid cancer, medullary", "thyroid carcinoma, medullary"; "MONDO:0015277"; ; rdfs:label "medullary thyroid gland carcinoma" . _:418cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy."; "NCIT:C3879" . _:418ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3973"; "MONDO:equivalentTo" . _:4190d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007004"; "MONDO:equivalentTo", "shared-umls-xref" . _:4191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002865"; "MONDO:otherHierarchy", "ontobio" . _:4193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C73"; "ORDO:1332/ntbt", "Orphanet:1332" . _:4196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027101"; "ORDO:1332/e", "Orphanet:1332" . _:4197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3879"; "DOID:3973", "MONDO:equivalentTo" . _:4198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:THME"; "MONDO:equivalentTo" . _:419ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:1332"; "MONDO:equivalentTo" . _:419cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:255032005"; "DOID:3973", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.08" . _:419ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206693"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:419fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238462"; "DOID:3973", "MONDO:equivalentTo", "NCIT:C3879", "ORDO:1332/e", "Orphanet:1332" . _:41a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C cell carcinoma"; "NCIT:C3879" . _:41a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTC"; "NCIT:C3879", "Orphanet:1332" . _:41a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of parafollicular cell"; "MONDO:patterns/carcinoma" . _:41a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma, C-cell, malignant"; "NCIT:C3879" . _:41a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary Thyroid cancer"; "NCIT:C3879" . _:41a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary Thyroid carcinoma"; "NCIT:C3879" . _:41a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary Thyroid gland carcinoma"; "NCIT:C3879" . _:41aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary carcinoma"; "NCIT:C3879" . _:41add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary carcinoma of Thyroid"; "NCIT:C3879" . _:41afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary carcinoma of Thyroid gland"; "NCIT:C3879" . _:41b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary carcinoma of the Thyroid"; "NCIT:C3879" . _:41b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary carcinoma of the Thyroid gland"; "DOID:3973", "NCIT:C3879" . _:41b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary thyroid cancer"; "NCIT:C3879" . _:41b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary thyroid carcinoma"; "CSP2005:4003-0036", "DOID:3973", "MONDO:ambiguous", "NCIT:C3879" . _:41b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parafollicular cell carcinoma"; "MONDO:patterns/location", "NCIT:C3879" . _:41b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland medullary cancer"; "NCIT:C3879" . _:41b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland medullary carcinoma"; "MONDO:0002823", "NCIT:C3879" . _:41b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland neuroendocrine carcinoma"; "NCIT:C3879" . _:41b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid medullary carcinoma"; "NCIT:C3879" . _:41bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ultimobranchial thyroid tumor"; "DOID:3973" . _:41bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ultimobranchial thyroid tumour"; "DOID:3973" . _:41bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THME"; "ONCOTREE:THME" . _:41bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary thyroid cancer (MTC)"; "GARD:0007004" . _:41c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid cancer, medullary"; "GARD:0007004" . _:41c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid carcinoma, medullary"; "GARD:0007004" . _:41c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1332" . a owl:Class; rdfs:subClassOf ; ; , ; "Orphanet:138044", "UMLS:CN199290"; "MONDO:0015319"; , ; rdfs:label "rare disease with Pierre Robin syndrome"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:41cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:138044"; "MONDO:equivalentTo" . _:41cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199290"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:41cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:138044" . a owl:Class; rdfs:subClassOf , ; "a group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are."; , ; "DC:0000583", "Orphanet:139033", "UMLS:CN199363"; "MONDO:0015333"; ; rdfs:label "progeroid syndrome" . _:41cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "a group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are."; "https://en.wikipedia.org/wiki/Progeroid_syndromes" . _:41d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000583"; "MONDO:equivalentTo" . _:41d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:139033"; "MONDO:equivalentTo" . _:41d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199363"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:41d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139033" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:155832", "UMLS:CN226686"; "MONDO:0015475"; , ; rdfs:label "rare head and neck malformation"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:41dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:155832"; "MONDO:equivalentTo" . _:41dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226686"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:41ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:155832" . a owl:Class; rdfs:subClassOf ; , , ; "MESH:D006130", "Orphanet:156643", "UMLS:CN237424"; "growth disorder"; "MONDO:0015514"; ; rdfs:label "genetic endocrine growth disease" . _:41e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006130"; "MONDO:equivalentTo" . _:41e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:156643"; "MONDO:equivalentTo" . _:41e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN237424"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:41e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "growth disorder"; "MONDO:cjm" . _:41e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156643" . a owl:Class; rdfs:subClassOf , ; "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)."; , , , , ; ; "DOID:4330", "GARD:0008231", "ICD10:D76.3", "ICD9:288.4", "MESH:D015616", "Orphanet:157987", "SCTID:127069007", "UMLS:C0019624"; "non-Langerhans-cell histiocytosis"; "histiocytosis, non-Langerhans-cell"; "MONDO:0015531"; ; rdfs:label "non-Langerhans cell histiocytosis" . _:41efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)."; "MESH:D015616" . _:41f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:157987" . _:41f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4330"; "MONDO:equivalentTo" . _:41f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008231"; "MONDO:equivalentTo", "shared-umls-xref" . _:41f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D76.3"; "ORDO:157987/ntbt", "Orphanet:157987" . _:41f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:288.4"; "MONDO:equivalentTo", "i2s" . _:41f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015616"; "DOID:4330", "MONDO:equivalentTo", "ORDO:157987/e", "Orphanet:157987" . _:41fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:157987"; "MONDO:equivalentTo" . _:41fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:127069007"; "DOID:4330", "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.44/0.50" . _:41fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019624"; "DOID:4330", "MONDO:equivalentTo", "ORDO:157987/e", "Orphanet:157987" . _:41ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-Langerhans-cell histiocytosis"; "MONDO:0002964" . _:4200d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "histiocytosis, non-Langerhans-cell"; "GARD:0008231" . _:4202d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:157987" . a owl:Class; rdfs:subClassOf , ; "Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes)."; , ; , , , , , , , ; "COHD:439789", "DOID:0050120", "GARD:0006589", "ICD10:D76.1", "ICD9:288.8", "MedDRA:10058125", "NCIT:C34792", "NCIT:C35439", "Orphanet:158032", "SCTID:234437005", "UMLS:C0024291", "UMLS:C3887558"; "HLH", "HPS", "hemophagocytic lymphohistiocytosis", "hemophagocytic syndrome"; "FHL", "familial erythrophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis", "familial histiocytic reticulosis", "haemophagocytic syndrome", "hemophagocytic disorder"; "MONDO:0015540"; , ; rdfs:comment "Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19"; rdfs:label "hemophagocytic syndrome"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis"^^xsd:anyURI . _:420bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes)."; "Orphanet:158032" . _:420dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:439789"; "MONDO:equivalentTo" . _:420fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050120"; "MONDO:equivalentTo" . _:4211d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006589"; "MONDO:equivalentTo" . _:4212d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D76.1"; "DOID:0050120" . _:4213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:288.8"; "MONDO:relatedTo", "i2s" . _:4214d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058125"; "ORDO:158032/e", "Orphanet:158032" . _:4215d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34792"; "DOID:0050120", "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.71/3.15" . _:4219d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35439"; "MONDO:equivalentTo" . _:421ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:158032"; "MONDO:equivalentTo" . _:421bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234437005"; "DOID:0050120", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.75/0.50" . _:421cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024291"; "DOID:0050120", "MONDO:equivalentTo", "NCIT:C34792", "ORDO:158032/e", "Orphanet:158032" . _:421fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3887558"; "MONDO:equivalentTo", "NCIT:C35439", "Orphanet:158032" . _:4222d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLH"; "GARD:0006589", "Orphanet:158032" . _:4223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPS"; "DOID:0050120" . _:4224d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophagocytic lymphohistiocytosis"; "MONDO:0000247", "NCIT:C34792", "Orphanet:158032" . _:4226d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophagocytic syndrome"; "MONDO:0021051", "NCIT:C35439" . _:4227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHL"; "GARD:0006589" . _:4229d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial erythrophagocytic lymphohistiocytosis"; "GARD:0006589" . _:422bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hemophagocytic lymphohistiocytosis"; "GARD:0006589" . _:422cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial histiocytic reticulosis"; "GARD:0006589" . _:422ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "haemophagocytic syndrome"; "DOID:0050120" . _:422fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophagocytic disorder"; "NCIT:C34792" . _:4230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:158032" . _:4231d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis"^^xsd:anyURI; "GARD:0006589" . a owl:Class; rdfs:subClassOf ; "A urogenital tract malformation that is not part of a larger syndrome."; ; "Orphanet:165704"; "isolated urogenital tract malformation", "nonsyndromic urogenital tract malformation"; "isolated urogenital tract malformation"; "MONDO:0015619"; ; rdfs:label "non-syndromic urogenital tract malformation" . _:4235d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A urogenital tract malformation that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:4236d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:165704"; "MONDO:equivalentTo" . _:4237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic urogenital tract malformation"; "MONDO:DesignPattern", "MONDO:patterns/isolated" . _:4238d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated urogenital tract malformation"; "MONDO:DesignPattern" . _:4239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:165704" . a owl:Class; rdfs:subClassOf , , , ; ; "Orphanet:166469"; "MONDO:0015652"; , ; rdfs:label "chromosomal anomaly with epilepsy as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:423dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:166469"; "MONDO:equivalentTo" . _:423fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166469" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:166481", "UMLS:C1299598"; "metabolic diseases with epilepsy"; "MONDO:0015656"; ; rdfs:label "metabolic disease with epilepsy" . _:4242d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:166481"; "MONDO:equivalentTo" . _:4243d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1299598"; "MONDO:equivalentTo", "ORDO:166481/e", "Orphanet:166481" . _:4245d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic diseases with epilepsy"; "Orphanet:166481" . _:425ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166481" . a owl:Class; rdfs:subClassOf ; "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone."; , , , ; "NCIT:C113171", "Orphanet:178045", "SCTID:119181000119104", "UMLS:C3827793"; "THOP", "hypothyroxinemia of prematurity", "transient hypothyroxinemia of prematurity"; "MONDO:0015792"; ; rdfs:label "transient congenital hypothyroidism" . _:4261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone."; "NCIT:C113171" . _:4262d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C113171"; "MONDO:equivalentTo" . _:4263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:178045"; "MONDO:equivalentTo" . _:4266d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:119181000119104"; "MONDO:equivalentTo" . _:426ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3827793"; "MONDO:equivalentTo" . _:426bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THOP"; "NCIT:C113171" . _:426cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypothyroxinemia of prematurity"; "NCIT:C113171" . _:426dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transient hypothyroxinemia of prematurity"; "NCIT:C113171" . _:426ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:178045" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:180062"; "MONDO:0015828"; ; rdfs:label "uterovaginal malformation" . _:4273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:180062"; "MONDO:equivalentTo" . _:4275d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180062" . a owl:Class; rdfs:subClassOf , ; "A uterovaginal malformation that is part of a larger syndrome."; , ; "Orphanet:180148", "UMLS:CN226751"; "syndrome associated with uterovaginal malformation", "syndromic uterovaginal malformation"; "syndrome associated with uterovaginal malformation"; "MONDO:0015846"; ; rdfs:label "syndromic uterovaginal malformation" . _:4279d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A uterovaginal malformation that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:427ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:180148"; "MONDO:equivalentTo" . _:427bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226751"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:427dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with uterovaginal malformation"; "MONDO:patterns/syndromic" . _:427ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic uterovaginal malformation"; "MONDO:patterns/syndromic" . _:4280d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with uterovaginal malformation"; "MONDO:patterns/syndromic" . _:4281d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180148" . a owl:Class; rdfs:subClassOf , ; ; ; "Orphanet:180163"; "MONDO:0015851"; , ; rdfs:label "rare breast malformation"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4284d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:180163"; "MONDO:equivalentTo" . _:4287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180163" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:180173"; "MONDO:0015853"; ; rdfs:label "deficient breast volume or number" . _:4288d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:180173"; "MONDO:equivalentTo" . _:4289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180173" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:180193", "UMLS:CN226755"; "MONDO:0015856"; ; rdfs:label "syndromic breast hypoplasia/aplasia" . _:428bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:180193"; "MONDO:equivalentTo" . _:428cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226755"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:428ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180193" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:180208"; "MONDO:0015860"; ; rdfs:label "anomaly of puberty or/and menstrual cycle" . _:4291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:180208"; "MONDO:equivalentTo" . _:4293d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180208" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:180779", "UMLS:CN226770"; "MONDO:0015880"; ; rdfs:label "syndromic diaphragmatic or thoracic malformation" . _:4297d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:180779"; "MONDO:equivalentTo" . _:4298d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226770"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4299d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180779" . a owl:Class; rdfs:subClassOf ; ; ; "Orphanet:181376"; "rare insulin-independent diabetes mellitus"; "MONDO:0015887"; , ; rdfs:label "rare diabetes mellitus type 2"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:429cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:181376"; "MONDO:equivalentTo" . _:429ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare insulin-independent diabetes mellitus"; "Orphanet:181376" . _:429fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181376" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:181381", "UMLS:CN226773"; "MONDO:0015888"; , ; rdfs:comment "Editor note: consider merging"; rdfs:label "other rare diabetes mellitus" . _:42a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:181381"; "MONDO:equivalentTo" . _:42a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226773"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:42a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181381" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:181384", "UMLS:CN200503"; "MONDO:0015889"; , ; rdfs:label "rare hypothalamic or pituitary disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:42a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:181384"; "MONDO:equivalentTo" . _:42a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200503"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:42aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181384" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:182054", "UMLS:CN200513"; "MONDO:0015913"; , ; rdfs:label "rare thrombotic disease of hematologic origin"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:42add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182054"; "MONDO:equivalentTo" . _:42aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200513"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:42b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182054" . a owl:Class; rdfs:subClassOf ; "P rimary orthostatic hypotension is a rare type of orthostatic hypotension . It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system , such as multiple system atrophy , young-onset Parkinson's disease , pure autonomic failure , dopamine beta-hydroxylase deficiency , familial dysautonomia , and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication."; ; "GARD:0012959", "Orphanet:182058"; "neurogenic orthostatic hypotension"; "MONDO:0015914"; , ; rdfs:label "primary orthostatic hypotension"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension"^^xsd:anyURI . _:42b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "P rimary orthostatic hypotension is a rare type of orthostatic hypotension . It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system , such as multiple system atrophy , young-onset Parkinson's disease , pure autonomic failure , dopamine beta-hydroxylase deficiency , familial dysautonomia , and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication."; "https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension" . _:42b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012959"; "MONDO:equivalentTo" . _:42b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182058"; "MONDO:equivalentTo" . _:42b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurogenic orthostatic hypotension"; "GARD:0012959" . _:42bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012959" . _:42bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182058" . _:42bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension"^^xsd:anyURI; "GARD:0012959" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:182064", "UMLS:CN200514"; "MONDO:0015916"; , ; rdfs:label "rare neuroinflammatory or neuroimmunological disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:42c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182064"; "MONDO:equivalentTo" . _:42c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200514"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:42c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182064" . a owl:Class; rdfs:subClassOf ; "An instance of peripheral neuropathy that is acquired during the lifetime of the individual."; ; "Orphanet:182086"; "acquired peripheral neuropathy"; "MONDO:0015923"; ; rdfs:label "acquired peripheral neuropathy" . _:42c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of peripheral neuropathy that is acquired during the lifetime of the individual."; "MONDO:patterns/acquired" . _:42c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182086"; "MONDO:equivalentTo" . _:42c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acquired peripheral neuropathy"; "MONDO:patterns/acquired" . _:42c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182086" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:182108"; "MONDO:0015929"; ; rdfs:label "thoracic malformation" . _:42c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182108"; "MONDO:equivalentTo" . _:42cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182108" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:182214", "UMLS:CN200527"; "MONDO:0015937"; , ; rdfs:label "rare inflammatory eye disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:42d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182214" . _:42d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182214"; "MONDO:equivalentTo" . _:42d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200527"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:42d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182214" . a owl:Class; rdfs:subClassOf ; "A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole."; , , , ; "ICD9:799.89", "NCIT:C9229", "Orphanet:182222", "SCTID:281867008", "UMLS:C0442893"; "multi-system disorder", "multisystem disorder", "systemic disorder"; "rare systemic disease"; "MONDO:0015938"; ; rdfs:label "systemic disease" . _:42dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole."; "https://en.wikipedia.org/wiki/Systemic_disease" . _:42dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:799.89"; "linkedlifedata" . _:42ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9229"; "MONDO:equivalentTo" . _:42ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182222"; "MONDO:equivalentTo" . _:42dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:281867008"; "MONDO:equivalentTo" . _:42e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0442893"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:42e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "systemic disorder"; "MONDO:cjm" . _:42e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare systemic disease"; "Orphanet:182222" . _:42e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182222" . a owl:Class; rdfs:subClassOf , ; "An autoimmune form of systemic disease."; , ; "Orphanet:182228", "UMLS:CN200529"; "autoimmune systemic disease"; "MONDO:0015939"; ; rdfs:label "systemic autoimmune disease" . _:42e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autoimmune form of systemic disease."; "MONDO:patterns/autoimmune" . _:42e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182228"; "MONDO:equivalentTo" . _:42ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200529"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:42ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182228" . a owl:Class; rdfs:subClassOf ; ; ; ; "Orphanet:199633"; "brain malformation"; "MONDO:0016054"; ; rdfs:label "cerebral malformation" . _:42efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:199633", "https://github.com/monarch-initiative/mondo-build/issues/58" . _:42f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:199633"; "MONDO:equivalentTo" . _:42f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain malformation"; "Orphanet:199633" . _:42f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:199633" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:199639", "UMLS:CN200739"; "MONDO:0016055"; , ; rdfs:label "syndrome with corpus callosum agenesis /dysgenesis as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:42f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:199639"; "MONDO:equivalentTo" . _:42fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200739"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:42ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:199639" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:211243"; "MONDO:0016230"; ; rdfs:label "simple vascular malformation" . _:4301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:211243"; "MONDO:equivalentTo" . _:4304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:211243" . a owl:Class; rdfs:subClassOf ; , , ; "Orphanet:211247", "SCTID:234118009"; "congenital malformation of capillary"; "rare capillary malformation"; "MONDO:0016231"; ; rdfs:label "capillary malformation" . _:4308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:211247"; "MONDO:equivalentTo" . _:4309d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234118009"; "MONDO:equivalentTo" . _:430bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare capillary malformation"; "Orphanet:211247" . _:430cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:211247" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:211255", "UMLS:CN200997"; "MONDO:0016233"; , ; rdfs:label "rare lymphatic system malformation"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:430ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:211255"; "MONDO:equivalentTo" . _:4311d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200997"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4313d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:211255" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:211277"; "hemangiolymphangioma"; "MONDO:0016235"; ; rdfs:label "complex vascular malformation with associated anomalies" . _:4315d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:211277"; "MONDO:equivalentTo" . _:4316d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemangiolymphangioma"; "Orphanet:211277" . _:4318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:211277" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:217678"; "MONDO:0016343"; ; rdfs:label "unclassified cardiomyopathy" . _:431bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:217678"; "MONDO:equivalentTo" . _:4320d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217678" . a owl:Class; rdfs:subClassOf , , ; , ; "Orphanet:225681", "UMLS:CN201328"; "MONDO:0016397"; ; rdfs:label "lysosomal disease with epilepsy" . _:4325d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:225681"; "MONDO:equivalentTo" . _:4326d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201328"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225681" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:225686", "UMLS:CN201329"; "MONDO:0016398"; ; rdfs:label "peroxisomal disease with epilepsy" . _:4329d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:225686"; "MONDO:equivalentTo" . _:432bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201329"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:432ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225686" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:225689", "UMLS:CN201330"; "MONDO:0016399"; ; rdfs:label "amino acid or protein metabolism disease with epilepsy" . _:4331d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:225689"; "MONDO:equivalentTo" . _:4333d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201330"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225689" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:225692", "UMLS:CN226914"; "MONDO:0016400"; ; rdfs:label "metal transport or utilization disorder with epilepsy" . _:4336d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:225692"; "MONDO:equivalentTo" . _:4337d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226914"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225692" . a owl:Class; rdfs:subClassOf , , ; , ; "Orphanet:225696", "UMLS:CN226915"; "MONDO:0016401"; ; rdfs:label "energy metabolism disorder with epilepsy" . _:4339d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:225696"; "MONDO:equivalentTo" . _:433ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226915"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:433bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225696" . a owl:Class; rdfs:subClassOf , , , ; , ; "Orphanet:225700", "UMLS:CN201331"; "MONDO:0016402"; ; rdfs:label "mitochondrial disease with epilepsy" . _:433ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:225700"; "MONDO:equivalentTo" . _:4340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201331"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225700" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:225707"; "MONDO:0016404"; ; rdfs:label "metabolic neurotransmission anomaly with epilepsy" . _:4348d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:225707"; "MONDO:equivalentTo" . _:4349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225707" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:225713", "UMLS:CN201333"; "MONDO:0016406"; , ; rdfs:comment "Editor note: consider merging"; rdfs:label "other metabolic disease with epilepsy" . _:434ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:225713"; "MONDO:equivalentTo" . _:434bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201333"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:434cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225713" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:231641", "UMLS:CN226947"; "MONDO:0016508"; , ; rdfs:label "rare non surgically correctable form of primary aldosteronism"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:434ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:231641"; "MONDO:equivalentTo" . _:4350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226947"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231641" . a owl:Class; rdfs:subClassOf , , , ; "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."; , ; "GARD:0013016", "ICD10:K52.8", "Orphanet:238569", "UMLS:CN201623"; "IL10-related early-onset IBD", "IL10-related early-onset inflammatory bowel disease"; "autosomal recessive early-onset IBD", "autosomal recessive early-onset inflammatory bowel disease"; "MONDO:0016542"; ; rdfs:label "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" . _:4368d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."; "Orphanet:238569" . _:4369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013016"; "MONDO:equivalentTo", "Orphanet-shared" . _:436ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K52.8"; "ORDO:238569/attributed", "ORDO:238569/ntbt", "Orphanet:238569" . _:436bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:238569"; "MONDO:equivalentTo" . _:436cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201623"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:436dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL10-related early-onset IBD"; "Orphanet:238569" . _:4372d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL10-related early-onset inflammatory bowel disease"; "Orphanet:238569" . _:4373d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive early-onset IBD"; "GARD:0013016" . _:4374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive early-onset inflammatory bowel disease"; "GARD:0013016" . _:4375d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:238569" . a owl:Class; rdfs:subClassOf ; ; "ICD10:P72.2", "Orphanet:238699"; "MONDO:0016556"; ; rdfs:label "transient congenital hypothyroidism due to neonatal factor" . _:437bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:P72.2"; "ORDO:238699/ntbt", "Orphanet:238699" . _:437cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:238699"; "MONDO:equivalentTo" . _:437dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:238699" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:248315", "UMLS:CN226979"; "rare bleeding disorder due to a coagulation factors defect", "rare coagulopathy due to a coagulation factor defect"; "MONDO:0016628"; ; rdfs:label "hemorrhagic disorder due to a coagulation factors defect"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:437fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:248315"; "MONDO:equivalentTo" . _:4383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226979"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4386d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a coagulation factors defect"; "Orphanet:248315" . _:4388d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a coagulation factor defect"; "Orphanet:248315" . _:4389d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:248315" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:248326", "UMLS:CN236380"; "rare bleeding disorder due to a platelet anomaly", "rare bleeding disorder due to a thrombopathy and/or thrombocytopenia", "rare coagulopathy due to a platelet anomaly", "rare coagulopathy due to a thrombopathy and/or thrombocytopenia", "rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia"; "MONDO:0016629"; , ; rdfs:label "hemorrhagic disorder due to a platelet anomaly"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:438ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:248326"; "MONDO:equivalentTo" . _:438fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN236380"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a platelet anomaly"; "Orphanet:248326" . _:4393d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a thrombopathy and/or thrombocytopenia"; "Orphanet:248326" . _:4395d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a platelet anomaly"; "Orphanet:248326" . _:4396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a thrombopathy and/or thrombocytopenia"; "Orphanet:248326" . _:4397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia"; "Orphanet:248326" . _:4398d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:248326" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:248358", "UMLS:CN226982"; "MONDO:0016632"; , ; rdfs:label "thrombotic disorder due to a coagulation factors defect"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:439cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:248358"; "MONDO:equivalentTo" . _:439dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226982"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:43a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:248358" . a owl:Class; rdfs:subClassOf ; , ; "GARD:0012697", "Orphanet:252057", "UMLS:CN201996"; "rare tumor of cranial and spinal nerves"; "MONDO:0016749"; , ; rdfs:label "tumor of cranial and spinal nerves"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves"^^xsd:anyURI . _:43a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012697"; "MONDO:equivalentTo" . _:43a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:252057"; "MONDO:equivalentTo" . _:43a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201996"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:43a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare tumor of cranial and spinal nerves"; "Orphanet:252057" . _:43a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012697" . _:43a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:252057" . _:43aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves"^^xsd:anyURI; "GARD:0012697" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:252131", "UMLS:CN202000"; "BPNST"; "MONDO:0016752"; ; rdfs:comment "Editor note: consider relationship to granular cell tumor"; rdfs:label "benign peripheral nerve sheath tumor" . _:43afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:252131"; "MONDO:equivalentTo" . _:43b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202000"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:43b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BPNST"; "Orphanet:252131" . _:43b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:252131" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:252190", "UMLS:CN202004"; "MONDO:0016756"; ; rdfs:label "inherited nervous system cancer-predisposing syndrome" . _:43b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:252190"; "MONDO:equivalentTo" . _:43b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202004"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:43bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:252190" . a owl:Class; rdfs:subClassOf ; "A interstitial lung disease that occurs during childhood."; , , ; "Orphanet:264656", "SCTID:328661000119108", "UMLS:CN202324"; "ILD specific to childhood", "childhood interstitial lung disease", "interstitial lung disease of childhood", "pediatric interstitial lung disease"; "pediatric interstitial lung disease"; "MONDO:0017014"; ; rdfs:label "interstitial lung disease specific to childhood" . _:43bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A interstitial lung disease that occurs during childhood."; "MONDO:design_pattern" . _:43bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264656"; "MONDO:equivalentTo" . _:43c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:328661000119108"; "MONDO:equivalentTo" . _:43c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202324"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:43c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ILD specific to childhood"; "Orphanet:264656" . _:43c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "interstitial lung disease of childhood"; "MONDO:design_pattern", "MONDO:patterns/childhood" . _:43c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric interstitial lung disease"; "MONDO:design_pattern", "MONDO:patterns/childhood" . _:43cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric interstitial lung disease"; "MONDO:patterns/childhood" . _:43ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264656" . a owl:Class; rdfs:subClassOf ; , ; "GARD:0010559", "Orphanet:264665", "UMLS:CN202326"; "primary ILD specific to childhood", "primary interstitial lung disease specific to childhood"; "child", "children's interstitial lung disease"; "MONDO:0017015"; , ; rdfs:label "primary interstitial lung disease specific to childhood"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease"^^xsd:anyURI . _:43ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010559"; "MONDO:equivalentTo" . _:43cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264665"; "GARD:0010559", "MONDO:equivalentTo" . _:43d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202326"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:43d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ILD specific to childhood"; "GARD:0010559", "Orphanet:264665" . _:43d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary interstitial lung disease specific to childhood"; "GARD:0010559" . _:43d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "child"; "GARD:0010559" . _:43d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "children's interstitial lung disease"; "GARD:0010559" . _:43dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264665" . _:43dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease"^^xsd:anyURI; "GARD:0010559" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264670", "UMLS:CN202327"; "primary ILD specific to childhood due to alveolar structure disorder"; "MONDO:0017016"; ; rdfs:label "primary interstitial lung disease specific to childhood due to alveolar structure disorder" . _:43dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264670"; "MONDO:equivalentTo" . _:43e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202327"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:43e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ILD specific to childhood due to alveolar structure disorder"; "Orphanet:264670" . _:43e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264670" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264683", "UMLS:CN202329"; "primary ILD specific to childhood due to alveolar vascular disorder"; "MONDO:0017017"; ; rdfs:label "primary interstitial lung disease specific to childhood due to alveolar vascular disorder" . _:43e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264683"; "MONDO:equivalentTo" . _:43ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202329"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:43eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ILD specific to childhood due to alveolar vascular disorder"; "Orphanet:264683" . _:43efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264683" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264699", "UMLS:CN202333"; "secondary ILD specific to childhood associated with a systemic disease"; "MONDO:0017020"; ; rdfs:label "secondary interstitial lung disease specific to childhood associated with a systemic disease" . _:43f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264699"; "MONDO:equivalentTo" . _:43f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202333"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:43f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary ILD specific to childhood associated with a systemic disease"; "Orphanet:264699" . _:43f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264699" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264714", "UMLS:CN202336"; "secondary ILD specific to childhood associated with a granulomatous disease"; "MONDO:0017023"; ; rdfs:label "secondary interstitial lung disease specific to childhood associated with a granulomatous disease" . _:43fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264714"; "MONDO:equivalentTo" . _:4400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202336"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary ILD specific to childhood associated with a granulomatous disease"; "Orphanet:264714" . _:4402d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264714" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264719", "UMLS:CN202337"; "secondary ILD specific to childhood associated with a metabolic disease"; "MONDO:0017024"; ; rdfs:label "secondary interstitial lung disease specific to childhood associated with a metabolic disease" . _:4407d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264719"; "MONDO:equivalentTo" . _:4408d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202337"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary ILD specific to childhood associated with a metabolic disease"; "Orphanet:264719" . _:440ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264719" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264757", "UMLS:CN202341"; "ILD in childhood and adulthood"; "MONDO:0017030"; ; rdfs:label "interstitial lung disease in childhood and adulthood" . _:440dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264757"; "MONDO:equivalentTo" . _:440ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202341"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4410d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ILD in childhood and adulthood"; "Orphanet:264757" . _:4411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264757" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264944", "UMLS:CN202346"; "secondary ILD in childhood and adulthood"; "MONDO:0017034"; ; rdfs:label "secondary interstitial lung disease in childhood and adulthood" . _:4414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264944"; "MONDO:equivalentTo" . _:4415d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202346"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary ILD in childhood and adulthood"; "Orphanet:264944" . _:441ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264944" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264949", "UMLS:CN202347"; "secondary ILD in childhood and adulthood associated with a systemic disease"; "MONDO:0017035"; ; rdfs:label "secondary interstitial lung disease in childhood and adulthood associated with a systemic disease" . _:441ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264949"; "MONDO:equivalentTo" . _:441fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202347"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary ILD in childhood and adulthood associated with a systemic disease"; "Orphanet:264949" . _:4424d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264949" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:264968", "UMLS:CN202348"; "secondary ILD in childhood and adulthood associated with a metabolic disease"; "MONDO:0017037"; ; rdfs:label "secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease" . _:4426d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:264968"; "MONDO:equivalentTo" . _:4427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202348"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4428d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary ILD in childhood and adulthood associated with a metabolic disease"; "Orphanet:264968" . _:4429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264968" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:269531", "UMLS:CN202470"; "MONDO:0017120"; , ; rdfs:comment "Editor note: consider deleting all 'other' terms"; rdfs:label "other syndrome with a central nervous system malformation as major feature" . _:442ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:269531"; "MONDO:equivalentTo" . _:442fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202470"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4430d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:269531" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:D69.8", "Orphanet:275736", "UMLS:CN227099"; "rare bleeding disorder due to a constitutional thrombopathy", "rare bleeding disorder due to a qualitative platelet defect", "rare coagulopathy due to a constitutional thrombopathy", "rare coagulopathy due to a qualitative platelet defect", "rare hemorrhagic disorder due to a constitutional thrombopathy"; "MONDO:0017142"; , ; rdfs:label "rare hemorrhagic disorder due to a qualitative platelet defect"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4434d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D69.8"; "ORDO:275736/attributed", "ORDO:275736/ntbt", "Orphanet:275736" . _:4436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:275736"; "MONDO:equivalentTo" . _:4437d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227099"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4438d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a constitutional thrombopathy"; "Orphanet:275736" . _:4439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a qualitative platelet defect"; "Orphanet:275736" . _:443ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a constitutional thrombopathy"; "Orphanet:275736" . _:443bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a qualitative platelet defect"; "Orphanet:275736" . _:443cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hemorrhagic disorder due to a constitutional thrombopathy"; "Orphanet:275736" . _:443dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275736" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:280926", "UMLS:CN202777"; "MONDO:0017259"; ; rdfs:label "systemic diseases with anterior uveitis" . _:4443d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDOLEX:0017259", "Orphanet:280926" . _:4445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:280926"; "MONDO:equivalentTo" . _:4447d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202777"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4449d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280926" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:280930", "UMLS:CN202778"; "MONDO:0017260"; ; rdfs:label "systemic diseases with posterior uveitis" . _:444fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDOLEX:0017260", "Orphanet:280930" . _:4451d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:280930"; "MONDO:equivalentTo" . _:4453d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202778"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4455d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280930" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:280933", "UMLS:CN202779"; "MONDO:0017261"; ; rdfs:label "systemic diseases with panuveitis" . _:4457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDOLEX:0017261", "Orphanet:280933" . _:445ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:280933"; "MONDO:equivalentTo" . _:445bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202779"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:445dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280933" . a owl:Class; rdfs:subClassOf , , ; "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues."; , , , ; , , , , , , ; "DOID:14040", "ICD10:E31.0", "ICD9:258.8", "NCIT:C129726", "NCIT:C84576", "Orphanet:282196", "SCTID:41864002", "UMLS:C0085409", "UMLS:C4316913"; "APS", "Lloyd's syndrome", "autoimmune polyendocrine syndrome", "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome", "autoimmune polyendocrinopathy", "autoimmune polyendocrinopathy syndrome", "autoimmune polyglandular failure", "autoimmune polyglandular syndrome", "autoimmune polyglandular syndrome(s)"; "MONDO:0017278"; ; rdfs:label "autoimmune polyendocrinopathy" . _:4461d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues."; "NCIT:C129726" . _:4464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14040"; "MONDO:equivalentTo" . _:4465d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.0"; "DOID:14040", "MONDO:equivalentTo", "ORDO:282196/ntbt", "Orphanet:282196" . _:4467d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:258.8"; "MONDO:relatedTo", "i2s" . _:446bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129726"; "MONDO:equivalentTo" . _:446cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84576"; "DOID:14040", "MONDO:equivalentTo" . _:446dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:282196"; "MONDO:equivalentTo" . _:449cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:41864002"; "DOID:14040", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.77/0.21" . _:449dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085409"; "DOID:14040", "MEDGEN:kboom-pr98-c98", "MONDO:equivalentTo", "NCIT:C84576", "ORDO:282196/e", "Orphanet:282196" . _:449ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4316913"; "MEDGEN:kboom-pr95-c98", "MONDO:equivalentTo" . _:44a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APS"; "Orphanet:282196" . _:44a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lloyd's syndrome"; "DOID:14040", "MTHICD9_2006:258.1" . _:44a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrine syndrome"; "DOID:14040" . _:44a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome"; "NCIT:C129726" . _:44abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy"; "DOID:14040", "NCIT:C84576" . _:44aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy syndrome"; "MONDO:0001865", "NCIT:C84576" . _:44afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyglandular failure"; "DOID:14040" . _:44b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyglandular syndrome"; "Orphanet:282196" . _:44b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyglandular syndrome(s)"; "NCIT:C129726" . _:44b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:282196" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:290836", "UMLS:CN203041"; "MONDO:0017368"; ; rdfs:label "systemic disease with skin involvement" . _:44b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:290836" . _:44b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:290836"; "MONDO:equivalentTo" . _:44b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203041"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:44bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:290836" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:290842", "UMLS:CN203043"; "MONDO:0017370"; ; rdfs:label "autoinflammatory syndrome with skin involvement" . _:44bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:290842"; "MONDO:equivalentTo" . _:44bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203043"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:44c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:290842" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:306666", "UMLS:CN203530"; "MONDO:0017635"; ; rdfs:comment "Editor note: TODO checkme"; rdfs:label "parkinsonian syndrome due to neurodegenerative disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:44c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:306666"; "MONDO:equivalentTo" . _:44cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203530"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:44cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306666" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:306695", "UMLS:CN203537"; "MONDO:0017641"; ; rdfs:label "miscellaneous movement disorder due to neurodegenerative disease" . _:44ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:306695"; "MONDO:equivalentTo" . _:44cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203537"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:44d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306695" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:E71.3", "Orphanet:309115", "UMLS:CN227183"; "MONDO:0017713"; ; rdfs:label "disorder of fatty acid oxidation and ketogenesis" . _:44d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:309115/attributed", "ORDO:309115/ntbt", "Orphanet:309115" . _:44d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:309115"; "MONDO:equivalentTo" . _:44d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227183"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:44d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309115" . a owl:Class; rdfs:subClassOf ; "A disease in which Cushing syndrome is a major feature."; , ; "Orphanet:314749", "UMLS:CN203791"; "rare disease with Cushing syndrome as a major feature"; "MONDO:0017820"; , ; rdfs:label "disease with Cushing syndrome as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:44d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease in which Cushing syndrome is a major feature."; "MONDO:DesignPattern" . _:44dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:314749"; "MONDO:equivalentTo" . _:44dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203791"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:44ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disease with Cushing syndrome as a major feature"; "Orphanet:314749" . _:44e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:314749" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves the skin of body."; , , ; "DOID:0060039", "Orphanet:315350", "UMLS:CN203818"; "autoimmune disease of skin and connective tissue", "integument hypersensitivity reaction type II disease", "skin of body hypersensitivity reaction type II disease"; "MONDO:0017841"; ; rdfs:label "autoimmune disease with skin involvement" . _:44e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hypersensitivity reaction type II disease that involves the skin of body."; "MONDO:patterns/location" . _:44e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060039"; "MONDO:equivalentTo" . _:44e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:315350"; "MONDO:equivalentTo" . _:44ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203818"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:44ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease of skin and connective tissue"; "MONDO:0000593" . _:44edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "integument hypersensitivity reaction type II disease"; "MONDO:patterns/location" . _:44eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin of body hypersensitivity reaction type II disease"; "MONDO:patterns/location" . _:44efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:315350" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:324930", "UMLS:CN204101"; "MONDO:0017955"; ; rdfs:label "granulomatous autoinflammatory syndrome" . _:44f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:324930"; "MONDO:equivalentTo" . _:44f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204101"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:324930" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:331217", "UMLS:CN204279"; "MONDO:0018035"; ; rdfs:label "syndrome with combined immunodeficiency" . _:4501d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:331217"; "MONDO:equivalentTo" . _:4502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204279"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331217" . a owl:Class; rdfs:subClassOf , ; "Nephrotic syndrome for which no cause has been identified."; , , ; "NCIT:C122796", "Orphanet:357502", "UMLS:C3496337"; "MONDO:0018170"; ; rdfs:label "idiopathic nephrotic syndrome" . _:4509d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nephrotic syndrome for which no cause has been identified."; "NCIT:C122796" . _:450ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122796"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:450cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:357502"; "MONDO:equivalentTo" . _:450ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3496337"; "MONDO:equivalentTo", "NCIT:C122796", "Orphanet:357502" . _:4510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:357502" . a owl:Class; rdfs:subClassOf ; "A disorder of the development of bone in which ossification is affected."; , , , , , ; "DOID:1934", "ICD9:756.9", "MESH:D004413", "NCIT:C34560", "Orphanet:364559", "SCTID:109420003", "UMLS:C0013393"; "dysostosis"; "MONDO:0018234"; ; rdfs:label "dysostosis" . _:4514d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder of the development of bone in which ossification is affected."; "MONDO:DesignPattern", "NCIT:C34560", "https://en.wikipedia.org/wiki/Dysostosis" . _:4517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1934"; "MONDO:equivalentTo" . _:4519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.9"; "MONDO:relatedTo", "i2s" . _:451cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004413"; "DOID:1934", "MONDO:equivalentTo", "MONDO:ontobio" . _:451dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34560"; "DOID:1934", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:451fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:364559"; "MONDO:equivalentTo" . _:4522d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:109420003"; "DOID:1934", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:4523d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013393"; "DOID:1934", "MONDO:equivalentTo", "NCIT:C34560", "Orphanet:364559" . _:4526d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysostosis"; "NCIT:C34560" . _:4527d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364559" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:364568"; "MONDO:0018235"; , ; rdfs:label "dysostosis with limb anomaly as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:452ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:364568"; "MONDO:equivalentTo" . _:452bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364568" . a owl:Class; rdfs:subClassOf , ; "An autoimmune form of hypoparathyroidism."; , , ; "HP:0011771", "ICD10:E20.8", "Orphanet:36913", "SCTID:75316000", "UMLS:C0271865"; "autoimmune hypoparathyroidism"; "MONDO:0018242"; ; rdfs:label "autoimmune hypoparathyroidism (disease)" . _:4531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autoimmune form of hypoparathyroidism."; "MONDO:patterns/autoimmune" . _:4533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0011771"; "MONDO:otherHierarchy", "ontobio" . _:4534d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.8"; "ORDO:36913/ntbt", "Orphanet:36913" . _:4535d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:36913"; "MONDO:equivalentTo" . _:4536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75316000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:4538d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271865"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "ORDO:36913/e", "Orphanet:36913" . _:4539d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune hypoparathyroidism"; "MONDO:ambiguous" . _:453bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:36913" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:371442"; "MONDO:0018299"; ; rdfs:label "sphingolipidosis with epilepsy" . _:453dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:371442"; "MONDO:equivalentTo" . _:453fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371442" . a owl:Class; rdfs:subClassOf ; "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure."; ; , , ; "ICD10:M87.0", "ICD10:M87.1", "ICD10:M87.2", "ICD10:M87.3", "ICD10:M87.8", "ICD10:M87.9", "NCIT:C34841", "Orphanet:399164", "SCTID:397758007"; "AVN", "avascular necrosis of bone"; "MONDO:0018373"; ; rdfs:label "avascular necrosis" . _:4544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure."; "NCIT:C34841" . _:4546d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.0"; "ORDO:399164/btnt", "Orphanet:399164" . _:4549d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.1"; "ORDO:399164/btnt", "Orphanet:399164" . _:454bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.2"; "ORDO:399164/btnt", "Orphanet:399164" . _:454dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.3"; "ORDO:399164/btnt", "Orphanet:399164" . _:4551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.8"; "ORDO:399164/btnt", "Orphanet:399164" . _:4552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.9"; "ORDO:399164/btnt", "Orphanet:399164" . _:4553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34841"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.68/2.17" . _:4554d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399164"; "MONDO:equivalentTo" . _:4556d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:397758007"; "MONDO:equivalentTo" . _:4559d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AVN"; "Orphanet:399164" . _:455ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399164" . a owl:Class; rdfs:subClassOf ; ; "ICD10:M87.1", "ICD10:M87.2", "ICD10:M87.3", "Orphanet:399169"; "secondary AVN"; "MONDO:0018374"; ; rdfs:label "secondary avascular necrosis" . _:455cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.1"; "ORDO:399169/ntbt", "Orphanet:399169" . _:455fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.2"; "ORDO:399169/ntbt", "Orphanet:399169" . _:4561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.3"; "ORDO:399169/ntbt", "Orphanet:399169" . _:4562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399169"; "MONDO:equivalentTo" . _:4563d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary AVN"; "Orphanet:399169" . _:4564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399169" . a owl:Class; rdfs:subClassOf ; ; "ICD10:M87.8", "Orphanet:399302"; "primary AVN"; "MONDO:0018379"; ; rdfs:label "primary avascular necrosis" . _:4567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.8"; "ORDO:399302/ntbt", "Orphanet:399302" . _:456ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399302"; "MONDO:equivalentTo" . _:456bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary AVN"; "Orphanet:399302" . _:456cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399302" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:N46", "Orphanet:399572", "UMLS:CN227334"; "rare male infertility due to gonadotropic axis disorder", "rare male infertility due to hypothalamic-pituitary-testicular axis disorder"; "MONDO:0018386"; , ; rdfs:label "rare male infertility due to hypothalamic-pituitary-gonadal axis disorder"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:456dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399572/ntbt", "Orphanet:399572" . _:456ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399572"; "MONDO:equivalentTo" . _:456fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227334"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4570d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare male infertility due to gonadotropic axis disorder"; "Orphanet:399572" . _:4571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare male infertility due to hypothalamic-pituitary-testicular axis disorder"; "Orphanet:399572" . _:4572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399572" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:N46", "Orphanet:399584", "UMLS:CN227335"; "MONDO:0018387"; , ; rdfs:label "rare male infertility due to adrenal disorder"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4573d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399584/ntbt", "Orphanet:399584" . _:4575d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399584"; "MONDO:equivalentTo" . _:4576d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227335"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4578d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399584" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:399824", "UMLS:CN227342"; "rare disorder due to impaired sperm transport"; "rare disorder with obstructive azoospermia"; "MONDO:0018396"; , ; rdfs:label "rare male fertility disorder with obstructive azoospermia"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:457ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399824"; "MONDO:equivalentTo" . _:457bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227342"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:457ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disorder due to impaired sperm transport"; "Orphanet:399824" . _:457fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disorder with obstructive azoospermia"; "Orphanet:399824" . _:4580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399824" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:N97.0", "Orphanet:399831", "UMLS:CN227343"; "rare female infertility due to gonadotropic axis disorder", "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder"; "MONDO:0018397"; , ; rdfs:label "female infertility due to hypothalamic-pituitary-gonadal axis disorder"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4581d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97.0"; "ORDO:399831/ntbt", "Orphanet:399831" . _:4582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399831"; "MONDO:equivalentTo" . _:4583d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227343"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4584d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to gonadotropic axis disorder"; "Orphanet:399831" . _:4589d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder"; "Orphanet:399831" . _:458ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399831" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:399849", "UMLS:CN227346"; "MONDO:0018400"; , ; rdfs:label "rare female infertility due to an adrenal disorder"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:458bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399849"; "MONDO:equivalentTo" . _:458cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227346"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:458dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399849" . a owl:Class; rdfs:subClassOf ; , ; ; "ICD10:N97.0", "Orphanet:399853", "UMLS:CN227347"; "MONDO:0018401"; , ; rdfs:label "female infertility due to an anomaly of ovarian function"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4591d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399853" . _:459dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97.0"; "ORDO:399853/ntbt", "Orphanet:399853" . _:459fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399853"; "MONDO:equivalentTo" . _:45a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227347"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:45a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399853" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:N97.2", "Orphanet:399882"; "rare female infertility due to an implantation defect"; "MONDO:0018403"; ; rdfs:label "female infertility due to an implantation defect" . _:45a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97.2"; "MONDO:relatedTo", "ORDO:399882/ntbt", "Orphanet:399882" . _:45ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399882"; "MONDO:equivalentTo" . _:45ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to an implantation defect"; "Orphanet:399882" . _:45d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399882" . a owl:Class; rdfs:subClassOf ; "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s)."; , , ; , , , ; "COHD:4003487", "DOID:14766", "GARD:0009228", "HP:0000104", "ICD10:Q60.0", "ICD10:Q60.1", "ICD10:Q60.2", "NCIT:C99041", "OMIMPS:191830", "Orphanet:411709", "SCTID:204942005"; "hereditary renal aplasia", "hereditary urogenital adysplasia", "renal adysplasia", "renal agenesis", "renal aplasia"; "renal hypodysplasia/aplasia"; "MONDO:0018470"; ; rdfs:label "renal agenesis (disease)" . _:45d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s)."; "Orphanet:411709" . _:45dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4003487"; "MONDO:equivalentTo" . _:45dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14766"; "MONDO:equivalentTo" . _:45dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009228"; "MONDO:equivalentTo", "Orphanet-shared" . _:45ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000104"; "MONDO:otherHierarchy", "ontobio" . _:45ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q60.0"; "MONDO:superClassOf", "ORDO:411709/btnt", "ORDO:411709/specific", "Orphanet:411709" . _:45e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q60.1"; "MONDO:superClassOf", "ORDO:411709/btnt", "ORDO:411709/specific", "Orphanet:411709" . _:45e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q60.2"; "ORDO:411709/btnt", "ORDO:411709/specific", "Orphanet:411709" . _:45e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99041"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:45e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:191830"; "MONDO:equivalentTo" . _:45e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:411709"; "MONDO:equivalentTo", "OMIM:191830" . _:45eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:204942005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:45f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary renal aplasia"; "DOID:14766" . _:45f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary urogenital adysplasia"; "DOID:14766" . _:45f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal adysplasia"; "DOID:14766" . _:45f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal agenesis"; "MONDO:ambiguous" . _:45f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal aplasia"; "DOID:14766" . _:45f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal hypodysplasia/aplasia"; "OMIMPS:191830" . _:45f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:411709" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:420755", "UMLS:CN237489"; "MONDO:0018488"; , ; rdfs:comment "May be obsoleted. The semantics of the ORDO class are not clear"; rdfs:label "rare genetic odontal or periodontal disorder"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:45fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:420755"; "MONDO:equivalentTo" . _:45fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN237489"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4600d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:420755" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:423798", "UMLS:CN237511"; "mesenchymal tumor of small bowel"; "MONDO:0018506"; ; rdfs:label "mesenchymal tumor of small intestine" . _:4604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:423798"; "MONDO:equivalentTo" . _:460ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN237511"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:460fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mesenchymal tumor of small bowel"; "Orphanet:423798" . _:4610d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:423798" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:425003", "UMLS:CN237539"; "MONDO:0018538"; ; rdfs:label "inherited digestive cancer-predisposing syndrome" . _:4611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:425003"; "MONDO:equivalentTo" . _:4612d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN237539"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4613d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:425003" . a owl:Class; rdfs:subClassOf ; "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis."; ; , , , , , ; "DOID:0090070", "DOID:7455", "HP:0000044", "ICD10:E23.0", "ICD9:253.4", "NCIT:C113347", "OMIMPS:147950", "Orphanet:432", "SCTID:33927004", "UMLS:CN235466"; "Normosmic idiopathic hypogonadotropic hypogonadism", "central hypogonadism", "gonadotropic deficiency", "hypogonadism, hypogonadotropic", "hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism with or without anosmia", "hypogonadotropism", "low gonadotropins (secondary hypogonadism)", "nIHH", "normosmic congenital hypogonadotropic hypogonadism", "secondary hypogonadism"; "congenital idiopathic hypogonadotropic hypogonadism", "isolated congenital gonadotropin deficiency"; "isolated hypogonadotropic hypogonadism"; "MONDO:0018555"; ; rdfs:label "hypogonadotropic hypogonadism" . _:4619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis."; "NCIT:C113347" . _:461bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090070"; "MONDO:equivalentTo" . _:461dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:7455"; "MONDO:equivalentTo" . _:461ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000044"; "MONDO:otherHierarchy" . _:4620d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "DOID:0090070", "MONDO:relatedTo", "ORDO:432/inclusion", "ORDO:432/ntbt", "Orphanet:432" . _:4622d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.4"; "MONDO:relatedTo", "i2s" . _:4627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C113347"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.88/0.72" . _:4629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:147950"; "DOID:0090070", "MONDO:equivalentTo" . _:462ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:432"; "DOID:0090070", "MONDO:equivalentTo" . _:4630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:33927004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.83/2.33" . _:4632d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN235466"; "MONDO:equivalentTo" . _:4633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Normosmic idiopathic hypogonadotropic hypogonadism"; "Orphanet:432" . _:4634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central hypogonadism"; "NCIT:C113347" . _:4635d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadotropic deficiency"; "Orphanet:432" . _:4636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropic hypogonadism"; "NCIT:C113347" . _:4637d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropic hypogonadism with or without anosmia"; "OMIMPS:147950" . _:4638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropism"; "MONDO:0004228" . _:463ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nIHH"; "Orphanet:432" . _:463dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "normosmic congenital hypogonadotropic hypogonadism"; "Orphanet:432" . _:463fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary hypogonadism"; "NCIT:C113347" . _:4640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital idiopathic hypogonadotropic hypogonadism"; "DOID:0090070" . _:4641d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated congenital gonadotropin deficiency"; "DOID:0090070" . _:4642d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:432" . a owl:Class; rdfs:subClassOf , ; , , ; , ; "Orphanet:435365", "SCTID:717752005", "UMLS:C4305545"; "LUTO"; "MONDO:0018559"; ; rdfs:label "fetal lower urinary tract obstruction" . _:464ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:435365", "https://github.com/monarch-initiative/mondo-build/issues/58" . _:464bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:435365", "https://github.com/monarch-initiative/mondo-build/issues/58" . _:464cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:435365"; "MONDO:equivalentTo" . _:464dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717752005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:464ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4305545"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:464fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LUTO"; "Orphanet:435365" . _:4650d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:435365" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:435603"; "MONDO:0018562"; ; rdfs:label "genetic otorhinolaryngological malformation" . _:4652d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:435603"; "MONDO:equivalentTo" . _:4653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:435603" . a owl:Class; rdfs:subClassOf , ; "A hereditary optic neuropathy that is part of a larger syndrome."; , ; "Orphanet:441434", "UMLS:CN237645"; "syndrome associated with hereditary optic neuropathy", "syndromic hereditary optic neuropathy"; "syndrome associated with hereditary optic neuropathy"; "MONDO:0018609"; ; rdfs:label "syndromic hereditary optic neuropathy" . _:465bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hereditary optic neuropathy that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:465cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:441434"; "MONDO:equivalentTo" . _:465ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN237645"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4661d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with hereditary optic neuropathy"; "MONDO:patterns/syndromic" . _:4662d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic hereditary optic neuropathy"; "MONDO:patterns/syndromic" . _:4663d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with hereditary optic neuropathy"; "MONDO:patterns/syndromic" . _:4664d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:441434" . a owl:Class; rdfs:subClassOf ; ; "OMIMPS:256450", "Orphanet:443095"; "hyperinsulinemia hypoglycemia"; "MONDO:0018619"; ; rdfs:label "hyperinsulinemic hypoglycaemia" . _:466dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:256450"; "MONDO:equivalentTo" . _:466ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:443095"; "MONDO:equivalentTo" . _:4670d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemia hypoglycemia"; "OMIMPS:256450" . _:4671d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:443095" . a owl:Class; rdfs:subClassOf , ; "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age."; ; , , , ; "NCIT:C120083", "OMIMPS:120435", "Orphanet:443909", "SCTID:315058005", "UMLS:CN237674"; "HNPCC", "Hereditary nonpolyposis colorectal cancer (HNPCC)", "colorectal cancer, hereditary nonpolyposis", "familial nonpolyposis colon cancer", "familial nonpolyposis colorectal cancer", "hereditary nonpolyposis colon cancer", "hereditary nonpolyposis colorectal cancer"; "MONDO:0018630"; , ; rdfs:label "hereditary nonpolyposis colon cancer" . _:4677d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age."; "Orphanet:443909" . _:4678d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120083"; "MONDO:equivalentTo", "kboom:pr0.75-conf3.46" . _:4679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:120435"; "MONDO:cjm", "MONDO:equivalentTo" . _:467bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:443909"; "MONDO:equivalentTo" . _:467dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:315058005"; "MONDO:equivalentTo" . _:467ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN237674"; "MONDO:equivalentTo" . _:4680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HNPCC"; "NCIT:C120083", "Orphanet:443909" . _:4681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary nonpolyposis colorectal cancer (HNPCC)"; "NCIT:C120083" . _:4683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorectal cancer, hereditary nonpolyposis"; "OMIMPS:120435" . _:4684d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial nonpolyposis colon cancer"; "Orphanet:443909" . _:4685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial nonpolyposis colorectal cancer"; "Orphanet:443909" . _:4686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary nonpolyposis colon cancer"; "NCIT:C120083" . _:4687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary nonpolyposis colorectal cancer"; "NCIT:C120083", "Orphanet:443909" . _:4688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:443909" . a owl:Class; rdfs:subClassOf , , ; "Hereditary amyloidosis refers toa group of inherited conditions that make up one of the subtypes of amyloidosis .Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid inmultiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants."; , , , , ; "GARD:0006611", "MESH:D028226", "NCIT:C84555", "Orphanet:444116", "SCTID:367601000119103", "UMLS:C0206246"; "amyloidosis, Familial", "hereditary amyloidosis (disease)"; "amyloidosis hereditary", "familial amyloidosis"; "MONDO:0018634"; , ; rdfs:label "hereditary amyloidosis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis"^^xsd:anyURI . _:4691d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary amyloidosis refers toa group of inherited conditions that make up one of the subtypes of amyloidosis .Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid inmultiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants."; "https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis" . _:4692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006611"; "MONDO:equivalentTo" . _:4694d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D028226"; "MONDO:equivalentTo", "MONDO:ontobio" . _:4696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84555"; "MONDO:equivalentTo" . _:4698d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:444116"; "MONDO:equivalentTo" . _:4699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:367601000119103"; "MONDO:equivalentTo" . _:469cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206246"; "MONDO:equivalentTo", "Orphanet:444116" . _:469dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloidosis, Familial"; "NCIT:C84555" . _:469fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary amyloidosis (disease)"; "MONDO:patterns/hereditary" . _:46a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloidosis hereditary"; "GARD:0006611" . _:46a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial amyloidosis"; "GARD:0006611" . _:46a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006611" . _:46a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:444116" . _:46a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis"^^xsd:anyURI; "GARD:0006611" . a owl:Class; rdfs:subClassOf ; "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate."; , , , , , ; "DOID:4479", "ICD9:255.8", "MESH:D011546", "NCIT:C85034", "Orphanet:444916", "SCTID:77098009", "UMLS:C0033805"; "MONDO:0018638"; ; rdfs:label "pseudohypoaldosteronism" . _:46acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate."; "NCIT:C85034" . _:46aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4479"; "MONDO:equivalentTo" . _:46afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.8"; "MONDO:relatedTo", "i2s" . _:46b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011546"; "DOID:4479", "MONDO:equivalentTo" . _:46b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85034"; "DOID:4479", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:46b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:444916"; "MONDO:equivalentTo" . _:46b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:77098009"; "DOID:4479", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:46bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033805"; "DOID:4479", "MONDO:equivalentTo", "NCIT:C85034", "Orphanet:444916" . _:46bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:444916" . a owl:Class; rdfs:subClassOf , , ; "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton."; , , , , ; "DOID:0050545", "EFO:0009081", "ICD10:Q89.3", "MedDRA:10067265", "NCIT:C117273", "OMIMPS:306955", "Orphanet:450", "UMLS:C3178805"; "heterotaxia syndrome", "heterotaxy syndrome", "heterotaxy, visceral", "lateralization defect", "visceral heterotaxy"; "heterotaxia", "situs ambiguus"; "MONDO:0018677"; , ; rdfs:label "visceral heterotaxy" . _:46c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton."; "NCIT:C117273" . _:46c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050545"; "MONDO:equivalentTo" . _:46cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0009081"; "MONDO:equivalentTo" . _:46ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q89.3"; "MONDO:superClassOf", "ORDO:450/nd", "Orphanet:450" . _:46ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067265"; "ORDO:450/e", "Orphanet:450" . _:46cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C117273"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.76/1.59" . _:46d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:306955"; "MONDO:cjm", "MONDO:equivalentTo" . _:46d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:450"; "DOID:0050545", "MONDO:equivalentTo" . _:46ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3178805"; "MONDO:equivalentTo", "NCIT:C117273", "ORDO:450/e", "Orphanet:450" . _:46dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heterotaxia syndrome"; "NCIT:C117273" . _:46e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heterotaxy syndrome"; "Orphanet:450" . _:46e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heterotaxy, visceral"; "OMIMPS:306955" . _:46e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lateralization defect"; "Orphanet:450" . _:46e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visceral heterotaxy"; "Orphanet:450" . _:46ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heterotaxia"; "DOID:0050545" . _:46ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "situs ambiguus"; "DOID:0050545" . _:46ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:450" . a owl:Class; rdfs:subClassOf , , , , , , ; ; "Orphanet:457059"; "MONDO:0018699"; ; rdfs:label "pseudohypoparathyroidism with Albright hereditary osteodystrophy" . _:46edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:457059"; "MONDO:equivalentTo" . _:46efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:457059" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:457062"; "MONDO:0018700"; ; rdfs:label "pseudohypoparathyroidism without Albright hereditary osteodystrophy" . _:46f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:457062"; "MONDO:equivalentTo" . _:46f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:457062" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:458841"; "MONDO:0018722"; ; rdfs:label "primary lymphedema with associated anomalies" . _:46fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:458841"; "MONDO:equivalentTo" . _:46fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:458841" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:459348"; "MONDO:0018727"; ; rdfs:label "immunodeficiency due to a complement regulatory deficiency" . _:4704d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:459348"; "MONDO:equivalentTo" . _:4705d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:459348" . a owl:Class; rdfs:subClassOf , ; "An instance of rare vascular tumor that is caused by a modification of the individual's genome."; , ; "Orphanet:459543", "UMLS:CN242080"; "genetic rare vascular tumor"; "MONDO:0018729"; , ; rdfs:label "rare genetic vascular tumor"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4708d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of rare vascular tumor that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:4709d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:459543"; "MONDO:equivalentTo" . _:470bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN242080"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:470cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic rare vascular tumor"; "MONDO:patterns/genetic" . _:470dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:459543" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:459787"; "MONDO:0018731"; ; rdfs:label "lethal multiple congenital anomalies/dysmorphic syndrome" . _:470fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:459787"; "MONDO:equivalentTo" . _:4711d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:459787" . a owl:Class; rdfs:subClassOf , ; "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome."; , ; "Orphanet:466084", "UMLS:CN242186"; "genetic otorhinolaryngologic disease"; "MONDO:0018751"; ; rdfs:label "genetic otorhinolaryngologic disease" . _:4715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:4716d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:466084"; "MONDO:equivalentTo" . _:4717d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN242186"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4719d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic otorhinolaryngologic disease"; "MONDO:patterns/genetic" . _:471bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:466084" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:466658", "UMLS:CN242072"; "MONDO:0018753"; , ; rdfs:label "rare disease with malignant hyperthermia"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:471ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:466658"; "MONDO:equivalentTo" . _:471fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN242072"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:466658" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:477759", "UMLS:CN776854"; "COL4A1 or COL4A2-related cerebral angiopathy"; "MONDO:0018788"; ; rdfs:label "COL4A1 or COL4A2-related cerebral small vessel disease" . _:4725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477759"; "MONDO:equivalentTo" . _:4726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776854"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4727d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COL4A1 or COL4A2-related cerebral angiopathy"; "Orphanet:477759" . _:472bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477759" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:477765", "UMLS:CN776855"; "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy"; "MONDO:0018790"; ; rdfs:label "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy" . _:472cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477765"; "MONDO:equivalentTo" . _:472ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776855"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4730d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy"; "Orphanet:477765" . _:4732d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477765" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:477768"; "MONDO:0018791"; ; rdfs:label "Moyomoya angiopathy" . _:4734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477768"; "MONDO:equivalentTo" . _:4735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477768" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:477771", "UMLS:CN776904"; "rare disorder with a Moyamoya angiopathy"; "MONDO:0018792"; ; rdfs:label "Moyamoya syndrome" . _:4738d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477771"; "MONDO:equivalentTo" . _:473ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776904"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:473cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disorder with a Moyamoya angiopathy"; "Orphanet:477771" . _:473dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477771" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:477794", "UMLS:CN776900"; "MONDO:0018795"; ; rdfs:label "syndromic constitutional thrombocytopenia" . _:4746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477794"; "MONDO:equivalentTo" . _:4748d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776900"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477794" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:477797"; "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation", "non-syndromic constitutional thrombocytopenia"; "MONDO:0018796"; ; rdfs:label "isolated constitutional thrombocytopenia" . _:474cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477797"; "MONDO:equivalentTo" . _:474fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation"; "Orphanet:477797" . _:4750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic constitutional thrombocytopenia"; "Orphanet:477797" . _:4752d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477797" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:477805"; "MONDO:0018797"; ; rdfs:label "genetic cardiac malformation" . _:4756d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477805"; "MONDO:equivalentTo" . _:4757d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477805" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:477808", "UMLS:CN776936"; "MONDO:0018798"; , ; rdfs:comment "Editor note: consider obsoleting"; rdfs:label "other genetic dermis disorder" . _:475ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477808"; "MONDO:equivalentTo" . _:475dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776936"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:475ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477808" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:480549"; "non-SCID"; "MONDO:0018814"; ; rdfs:label "non-severe combined immunodeficiency" . _:4760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:480549"; "MONDO:equivalentTo" . _:4762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-SCID"; "Orphanet:480549" . _:4763d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:480549" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:68329", "UMLS:CN205523"; "rare maxillofacial anomaly"; "MONDO:0019038"; , ; rdfs:label "rare maxillo-facial surgical disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68329"; "MONDO:equivalentTo" . _:4768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205523"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:4769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare maxillofacial anomaly"; "Orphanet:68329" . _:476ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68329" . a owl:Class; rdfs:subClassOf ; ; "OMIMPS:614080", "Orphanet:68341"; "MCAHS"; "MONDO:0019042"; ; rdfs:label "multiple congenital anomalies/dysmorphic syndrome" . _:476ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:614080"; "MONDO:equivalentTo" . _:476fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68341"; "MONDO:equivalentTo" . _:4771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCAHS"; "MONDO:Lexical" . _:4773d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68341" . a owl:Class; rdfs:subClassOf ; "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule."; , ; , , , , , , , ; ; "COHD:432868", "DOID:2860", "GARD:0012455", "ICD10:D56.0", "ICD10:D56.1", "ICD10:D56.2", "ICD10:D56.3", "ICD10:D56.4", "ICD10:D56.8", "ICD10:D56.9", "ICD10:D57.0", "ICD10:D57.1", "ICD10:D57.2", "ICD10:D57.3", "ICD10:D57.8", "ICD10:D58.0", "ICD10:D58.1", "ICD10:D58.2", "ICD10:D58.8", "ICD10:D58.9", "ICD9:282.7", "MESH:D006453", "MedDRA:10060892", "NCIT:C3092", "Orphanet:68364", "SCTID:427306008", "UMLS:C0019045", "UMLS:C1960031"; "Hemoglobinopathies / iron metabolism", "hemoglobinopathies", "hereditary hemoglobinopathy"; "hemoglobinopathy"; "MONDO:0019050"; ; rdfs:label "inherited hemoglobinopathy" . _:4786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule."; "NCIT:C3092" . _:4787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:2860" . _:4788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:432868"; "MONDO:equivalentTo" . _:4789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2860"; "MONDO:equivalentTo" . _:478ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012455"; "MONDO:equivalentTo" . _:478bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.0"; "MONDO:superClassOf", "ORDO:68364/btnt", "Orphanet:68364" . _:478ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.1"; "ORDO:68364/btnt", "Orphanet:68364" . _:4790d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.2"; "MONDO:superClassOf", "ORDO:68364/btnt", "Orphanet:68364" . _:4792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.3"; "MONDO:superClassOf", "ORDO:68364/btnt", "Orphanet:68364" . _:4794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.4"; "ORDO:68364/btnt", "Orphanet:68364" . _:4796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.8"; "ORDO:68364/btnt", "Orphanet:68364" . _:4798d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.9"; "ORDO:68364/btnt", "Orphanet:68364" . _:479bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.0"; "ORDO:68364/btnt", "Orphanet:68364" . _:479cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.1"; "ORDO:68364/btnt", "Orphanet:68364" . _:479dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.2"; "ORDO:68364/btnt", "Orphanet:68364" . _:479fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.3"; "ORDO:68364/btnt", "Orphanet:68364" . _:47a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.8"; "ORDO:68364/btnt", "Orphanet:68364" . _:47a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D58.0"; "MONDO:relatedTo", "ORDO:68364/btnt", "Orphanet:68364" . _:47a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D58.1"; "MONDO:relatedTo", "ORDO:68364/btnt", "Orphanet:68364" . _:47a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D58.2"; "DOID:2860", "ORDO:68364/btnt", "Orphanet:68364" . _:47aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D58.8"; "ORDO:68364/btnt", "Orphanet:68364" . _:47acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D58.9"; "ORDO:68364/btnt", "Orphanet:68364" . _:47aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.7"; "MONDO:relatedTo", "i2s" . _:47afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006453"; "DOID:2860", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:68364/e", "Orphanet:68364" . _:47b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060892"; "ORDO:68364/e", "Orphanet:68364" . _:47b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3092"; "DOID:2860", "MONDO:equivalentTo", "exact-label-match" . _:47b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68364"; "MONDO:equivalentTo" . _:47b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:427306008"; "MONDO:equivalentTo" . _:47b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019045"; "DOID:2860", "MONDO:equivalentTo", "NCIT:C3092", "ORDO:68364/e", "Orphanet:68364" . _:47b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1960031"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:47b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemoglobinopathies / iron metabolism"; "NCIT:C3092" . _:47b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemoglobinopathies"; "DOID:2860" . _:47bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hemoglobinopathy"; "MONDO:patterns/hereditary" . _:47bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemoglobinopathy"; "DOID:2860" . _:47bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68364" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:68378"; "MONDO:0019054"; ; rdfs:label "congenital limb malformation" . _:47bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68378"; "MONDO:equivalentTo" . _:47c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68378" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:68415", "UMLS:CN205542"; "MONDO:0019061"; , ; rdfs:label "rare parathyroid disease and phosphocalcic metabolism anomaly"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:47c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68415"; "MONDO:equivalentTo" . _:47c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205542"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:47c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68415" . a owl:Class; rdfs:subClassOf ; ; , ; "Orphanet:68419"; "vascular anomaly or angioma"; "MONDO:0019063"; ; rdfs:comment "Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2"; rdfs:label "vascular anomaly" . _:47c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68419" . _:47cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68419" . _:47cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68419"; "MONDO:equivalentTo" . _:47cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular anomaly or angioma"; "Orphanet:68419" . _:47d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68419" . a owl:Class; rdfs:subClassOf , ; "Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery."; ; , , , , , , , ; , ; "DOID:0070227", "DOID:1852", "EFO:0009048", "GARD:0009804", "GARD:9804", "ICD10:O26.6", "MESH:D002780", "ORDO:69665", "Orphanet:69665", "SCTID:235888006", "UMLS:C0008372"; "Gravidic intrahepatic cholestasis", "ICP", "gravidic intrahepatic cholestasis", "intrahepatic cholestasis of pregnancy", "pregnancy related cholestasis", "pregnancy-related cholestasis", "recurrent intrahepatic cholestasis of pregnancy"; "RICP", "cholestasis, intrahepatic of pregnancy", "familial intrahepatic cholestasis of pregnancy", "familial recurrent intrahepatic cholestasis of pregnancy"; "MONDO:0019072"; ; rdfs:label "intrahepatic cholestasis" . _:47d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery."; "Orphanet:69665" . _:47d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "EFO:0009048", "Orphanet:69665" . _:47d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:0070227" . _:47d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070227"; "MONDO:equivalentTo" . _:47dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1852"; "MONDO:equivalentTo" . _:47ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0009048"; "MONDO:equivalentTo" . _:47ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009804"; "MONDO:equivalentTo", "Orphanet-shared" . _:47e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:9804"; "DOID:0070227" . _:47e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:O26.6"; "ORDO:69665/ntbt", "Orphanet:69665" . _:47e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002780"; "DOID:1852", "MONDO:equivalentTo" . _:47e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORDO:69665"; "DOID:0070227" . _:47e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:69665"; "DOID:1852", "MONDO:equivalentTo" . _:47e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:235888006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.83" . _:47ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008372"; "DOID:1852", "MONDO:equivalentTo" . _:47edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gravidic intrahepatic cholestasis"; "Orphanet:69665" . _:47efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICP"; "DOID:0070227" . _:47f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gravidic intrahepatic cholestasis"; "DOID:0070227" . _:47f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intrahepatic cholestasis of pregnancy"; "DOID:1852" . _:47f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pregnancy related cholestasis"; "DOID:0070227", "GARD:0009804" . _:47f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pregnancy-related cholestasis"; "Orphanet:69665" . _:47f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "recurrent intrahepatic cholestasis of pregnancy"; "DOID:0070227", "Orphanet:69665" . _:47f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RICP"; "GARD:0009804" . _:47fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholestasis, intrahepatic of pregnancy"; "GARD:0009804" . _:47fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial intrahepatic cholestasis of pregnancy"; "GARD:0009804" . _:47ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial recurrent intrahepatic cholestasis of pregnancy"; "GARD:0009804" . _:4800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:69665" . a owl:Class; rdfs:subClassOf , , , , ; "Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)."; , ; "Orphanet:717", "UMLS:CN205637"; "MONDO:0019116"; ; rdfs:label "catecholamine-producing tumor" . _:4802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)."; "Orphanet:717" . _:4806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:717"; "MONDO:equivalentTo" . _:4808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205637"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:717" . a owl:Class; rdfs:subClassOf , , , , ; "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both."; , , , , , , ; , , , , , , , ; ; "disorder of porphyrin and heme metabolism", "disorder of porphyrin metabolism", "porphyria"; "COHD:434908", "DOID:13268", "GARD:0010353", "ICD10:E80.0", "ICD10:E80.1", "ICD10:E80.2", "ICD10:E80.20", "ICD9:277.1", "MESH:D011164", "MedDRA:10036181", "MedDRA:10061356", "NCIT:C97096", "Orphanet:738", "SCTID:371628009", "UMLS:C0032708"; "disorder of porphyrin and hem metabolism", "hereditary porphyria"; "Hematoporphyria", "Porphyrinopathy"; "MONDO:0019142"; , ; rdfs:comment "Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic"; rdfs:label "inherited porphyria"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10353/porphyria"^^xsd:anyURI . _:481bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both."; "Orphanet:738" . _:481cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:738" . _:4820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of porphyrin and heme metabolism"; "DOID:13268" . _:4822d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of porphyrin metabolism"; "DOID:13268", "ICD9CM_2006:277.1" . _:4825d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria"; "DOID:13268" . _:4826d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434908"; "MONDO:equivalentTo" . _:482ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13268"; "MONDO:equivalentTo" . _:482dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010353"; "MONDO:equivalentTo" . _:482fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.0"; "ORDO:738/btnt", "ORDO:738/specific", "Orphanet:738" . _:4833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.1"; "ORDO:738/btnt", "ORDO:738/specific", "Orphanet:738" . _:4834d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.2"; "ORDO:738/btnt", "ORDO:738/specific", "Orphanet:738" . _:4836d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.20"; "DOID:13268", "MONDO:ICD_NOS" . _:4839d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.1"; "DOID:13268" . _:483ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011164"; "DOID:13268", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:738/e", "Orphanet:738" . _:483bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036181"; "ORDO:738/e", "Orphanet:738" . _:483dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061356"; "ORDO:738/e", "Orphanet:738" . _:483fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97096"; "DOID:13268", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:4840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:738"; "MONDO:equivalentTo" . _:4841d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:371628009"; "DOID:13268", "MONDO:equivalentTo", "MONDO:kboom-pr-0.84/0.68/0.05" . _:4844d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032708"; "DOID:13268", "MONDO:equivalentTo", "NCIT:C97096", "ORDO:738/e", "Orphanet:738" . _:4846d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of porphyrin and hem metabolism"; "DOID:13268" . _:4848d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary porphyria"; "MONDO:patterns/hereditary" . _:484ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hematoporphyria"; "DOID:13268", "MTHICD9_2006:277.1" . _:484cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Porphyrinopathy"; "DOID:13268" . _:484dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010353" . _:484fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:738" . _:4851d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10353/porphyria"^^xsd:anyURI; "GARD:0010353" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:79353", "UMLS:CN205920"; "Epidermal disease"; "MONDO:0019268"; , ; rdfs:label "rare epidermal disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4856d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79353"; "MONDO:equivalentTo" . _:4858d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205920"; "MONDO:equivalentTo" . _:485ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermal disease"; "Orphanet:79353" . _:485cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79353" . a owl:Class; rdfs:subClassOf ; "A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe."; , , , , , , ; "DOID:1697", "HP:0008064", "MESH:D007057", "MedDRA:10021198", "NCIT:C84776", "Orphanet:79354", "UMLS:C0020757"; "ichthyoses", "ichthyosis"; "non-syndromic ichthyosis"; "MONDO:0019269"; ; rdfs:label "ichthyosis (disease)" . _:4864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe."; "NCIT:C84776" . _:4865d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1697"; "MONDO:equivalentTo" . _:4867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0008064"; "MONDO:otherHierarchy", "ontobio" . _:4868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007057"; "DOID:1697", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:79354/e", "Orphanet:79354" . _:4869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021198"; "ORDO:79354/e", "Orphanet:79354" . _:486ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84776"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:486fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79354"; "DOID:1697", "MONDO:equivalentTo" . _:4870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020757"; "MONDO:equivalentTo", "NCIT:C84776", "ORDO:79354/e", "Orphanet:79354" . _:4871d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyoses"; "DOID:1697" . _:4872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis"; "MONDO:ambiguous" . _:4874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic ichthyosis"; "DOID:1697" . _:4876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79354" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:79359", "UMLS:CN227609"; "MONDO:0019274"; , ; rdfs:comment "Editor note: consider merging"; rdfs:label "other epidermal disorder" . _:4878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79359"; "MONDO:equivalentTo" . _:4879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227609"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:487bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79359" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:79362"; "MONDO:0019277"; ; rdfs:label "epidermal appendage anomaly" . _:487fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79362"; "MONDO:equivalentTo" . _:488cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79362" . a owl:Class; rdfs:subClassOf , ; ; ; "Orphanet:79363"; "MONDO:0019278"; ; rdfs:label "hair anomaly" . _:488fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79363"; "MONDO:equivalentTo" . _:4890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79363" . a owl:Class; rdfs:subClassOf , ; "A epidermal appendage anomaly that involves the nail."; ; , , ; "MedDRA:10028684", "Orphanet:79368"; "epidermal appendage anomaly of nail", "nail epidermal appendage anomaly"; "MONDO:0019283"; ; rdfs:label "nail anomaly" . _:4899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A epidermal appendage anomaly that involves the nail."; "MONDO:patterns/location" . _:489bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028684"; "ORDO:79368/e", "Orphanet:79368" . _:489fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79368"; "MONDO:equivalentTo" . _:48a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermal appendage anomaly of nail"; "MONDO:design_pattern" . _:48a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nail epidermal appendage anomaly"; "MONDO:design_pattern", "MONDO:patterns/location" . _:48a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79368" . a owl:Class; rdfs:subClassOf , ; "A epidermal appendage anomaly that involves the sebaceous gland."; ; "Orphanet:79372"; "epidermal appendage anomaly of sebaceous gland", "sebaceous gland epidermal appendage anomaly"; "MONDO:0019286"; ; rdfs:label "sebaceous gland anomaly" . _:48a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A epidermal appendage anomaly that involves the sebaceous gland."; "MONDO:patterns/location" . _:48a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79372"; "MONDO:equivalentTo" . _:48aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermal appendage anomaly of sebaceous gland"; "MONDO:design_pattern" . _:48abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sebaceous gland epidermal appendage anomaly"; "MONDO:patterns/location" . _:48acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79372" . a owl:Class; rdfs:subClassOf , ; "A disease that involves the superficial vasculature."; , ; , , , , , , ; ; "COHD:316501", "DOID:9540", "ICD9:709.1", "MESH:D017445", "MedDRA:10062171", "NCIT:C35254", "Orphanet:79379", "SCTID:11263005", "UMLS:C0162819"; "skin vascular disorder", "superficial vasculature disease", "vascular disease of the skin", "vascular skin disease", "vasculature skin disease"; "disorder of blood vessels affecting skin", "vascular disorder of skin", "vascular disorders of skin"; "MONDO:0019293"; ; rdfs:comment "Editor note: TODO merge MONDO:0004814; also note that ORDO classifies as genetic"; rdfs:label "skin vascular disease" . _:48b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the superficial vasculature."; "MONDO:patterns/location" . _:48b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79379" . _:48b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:316501"; "MONDO:equivalentTo" . _:48b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9540"; "MONDO:equivalentTo" . _:48b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:709.1"; "DOID:9540" . _:48b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017445"; "DOID:9540", "MONDO:equivalentTo", "ORDO:79379/e", "Orphanet:79379" . _:48bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062171"; "ORDO:79379/e", "Orphanet:79379" . _:48c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35254"; "DOID:9540", "MONDO:equivalentTo" . _:48cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79379"; "MONDO:equivalentTo" . _:48d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:11263005"; "DOID:9540", "MONDO:equivalentTo" . _:48d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162819"; "DOID:9540", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:79379/e", "Orphanet:79379" . _:48d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin vascular disorder"; "NCIT:C35254" . _:48d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "superficial vasculature disease"; "MONDO:patterns/location" . _:48d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular skin disease"; "MONDO:0004814" . _:48dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vasculature skin disease"; "MONDO:patterns/location" . _:48dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79379" . a owl:Class; rdfs:subClassOf ; "A disease involving the superficial fascia."; , ; ; "Orphanet:79382", "UMLS:C1290008"; "disease of superficial fascia", "disease or disorder of superficial fascia", "disorder of superficial fascia", "superficial fascia disease", "superficial fascia disease or disorder"; "disorder of superficial fascia"; "MONDO:0019296"; ; rdfs:label "subcutaneous tissue disease" . _:48dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the superficial fascia."; "MONDO:patterns/location_top" . _:48e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79382"; "MONDO:equivalentTo" . _:48e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290008"; "MONDO:equivalentTo", "ORDO:79382/e", "Orphanet:79382" . _:48e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of superficial fascia"; "MONDO:patterns/location_top" . _:48e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of superficial fascia"; "MONDO:patterns/location_top" . _:48e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "superficial fascia disease"; "MONDO:patterns/location" . _:48e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "superficial fascia disease or disorder"; "MONDO:patterns/location" . _:48e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of superficial fascia"; "MONDO:patterns/location_top" . _:48ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79382" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:79390", "UMLS:C0920193"; "rare skin photosensitivity"; "MONDO:0019304"; , ; rdfs:label "rare photodermatosis"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:48eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79390"; "MONDO:equivalentTo" . _:48f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0920193"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "Orphanet:79390" . _:48f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare skin photosensitivity"; "Orphanet:79390" . _:48f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79390" . a owl:Class; rdfs:subClassOf ; ; "ICD10:H30.0", "ICD10:H30.1", "Orphanet:90061"; "non-infectious choroiditis"; "MONDO:0019541"; ; rdfs:label "non-infectious posterior uveitis" . _:48f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H30.0"; "ORDO:90061/ntbt", "Orphanet:90061" . _:48fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H30.1"; "ORDO:90061/ntbt", "Orphanet:90061" . _:48fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:90061"; "MONDO:equivalentTo" . _:48fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-infectious choroiditis"; "Orphanet:90061" . _:48ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90061" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:90692", "UMLS:CN206437"; "MONDO:0019590"; , ; rdfs:label "rare endocrine growth disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:490dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:90692"; "MONDO:equivalentTo" . _:490fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206437"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90692" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:93461", "UMLS:CN206622"; "MONDO:0019717"; ; rdfs:label "chromosomal disease with overgrowth" . _:4914d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93461"; "MONDO:equivalentTo" . _:4916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206622"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4918d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93461" . a owl:Class; rdfs:subClassOf ; "Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established"; , ; "Orphanet:93551", "UMLS:CN206631"; "MONDO:0019724"; ; rdfs:label "secondary glomerular disease" . _:491bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established"; "https://doi.org/10.1016/j.mpmed.2007.06.008" . _:491dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93551"; "MONDO:equivalentTo" . _:491ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206631"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:491fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93551" . a owl:Class; rdfs:subClassOf ; "Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction."; ; "Orphanet:93603"; "disease of renal tubule", "renal tubule disease"; "MONDO:0019744"; , ; rdfs:label "rare renal tubular disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction."; "MONDO:patterns/disease_by_dysfunctional_structure" . _:4922d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93603"; "MONDO:equivalentTo" . _:4927d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of renal tubule"; "MONDO:patterns/disease_by_dysfunctional_structure" . _:492bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93603" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:93618", "UMLS:CN227685"; "MONDO:0019748"; , ; rdfs:label "rare cause of hypertension"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:492cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93618"; "MONDO:equivalentTo" . _:492dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227685"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:492ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93618" . a owl:Class; rdfs:subClassOf , , ; "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease."; , , , , ; "MedDRA:10072220", "NCIT:C119050", "Orphanet:93665", "UMLS:C3267073", "UMLS:C3890737"; "MONDO:0019751"; ; rdfs:comment "Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom"; rdfs:label "autoinflammatory syndrome" . _:4935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease."; "NCIT:C119050", "PMID:23827249" . _:4938d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10072220"; "ORDO:93665/e", "Orphanet:93665" . _:493ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C119050"; "MONDO:equivalentTo" . _:493dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93665"; "MONDO:equivalentTo" . _:493ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3267073"; "MONDO:equivalentTo", "ORDO:93665/e", "Orphanet:93665" . _:493fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3890737"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C119050" . _:4940d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93665" . a owl:Class; rdfs:subClassOf , ; "A disease that has its basis in the disruption of embryonic morphogenesis."; , , , , ; "ICD9:759.7", "NCIT:C99267", "Orphanet:93890", "SCTID:400038003", "UMLS:C1302790", "UMLS:CN206687"; "congenital malformation syndrome", "developmental defect during embryogenesis", "disorder of embryonic morphogenesis", "embryonic morphogenesis disease", "malformation syndrome", "rare developmental defect during embryogenesis"; "disorder of embryonic morphogenesis"; "MONDO:0019755"; ; rdfs:label "developmental defect during embryogenesis" . _:4942d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of embryonic morphogenesis."; "MONDO:design_pattern" . _:4943d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.7"; "linkedlifedata" . _:4945d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99267"; "MONDO:equivalentTo" . _:4948d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93890"; "MONDO:equivalentTo" . _:4949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:400038003"; "MONDO:equivalentTo" . _:494bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1302790"; "MEDGEN:kboom-pr92-c94", "MONDO:equivalentTo" . _:494dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206687"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:494fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of embryonic morphogenesis"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:4951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "embryonic morphogenesis disease"; "MONDO:design_pattern" . _:4953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malformation syndrome"; "Orphanet:93890" . _:4955d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare developmental defect during embryogenesis"; "Orphanet:93890" . _:4957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of embryonic morphogenesis"; "MONDO:patterns/basis_in_disruption_of_process" . _:495ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93890" . a owl:Class; rdfs:subClassOf , ; "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss."; , , , , ; "GARD:0008689", "ICD9:279.49", "MESH:C538273", "NCIT:C94694", "Orphanet:94075", "SCTID:235728001", "UMLS:C0341305"; "immune-mediated protracted diarrhea of infancy", "severe immune-mediated enteropathy"; "MONDO:0019787"; ; rdfs:label "autoimmune enteropathy" . _:495fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss."; "Orphanet:94075" . _:4960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008689"; "MONDO:equivalentTo", "shared-umls-xref" . _:4961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.49"; "MONDO:relatedTo", "i2s" . _:4962d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538273"; "MONDO:equivalentTo", "MONDO:ontobio" . _:4965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C94694"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:4968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:94075"; "MONDO:equivalentTo" . _:4969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:235728001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:496bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0341305"; "MONDO:equivalentTo", "NCIT:C94694", "Orphanet:94075" . _:4970d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune-mediated protracted diarrhea of infancy"; "Orphanet:94075" . _:4972d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe immune-mediated enteropathy"; "Orphanet:94075" . _:4974d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:94075" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:95618", "UMLS:CN206788"; "MONDO:0019844"; ; rdfs:comment "Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120"; rdfs:label "pituitary hormone deficiency secondary to storage disease" . _:4976d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95618" . _:4977d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:95618"; "MONDO:equivalentTo" . _:4978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206788"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:497ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95618" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:96344", "UMLS:CN206853"; "MONDO:0019937"; , ; rdfs:label "rare gynecologic or obstetric disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:497bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:96344"; "MONDO:equivalentTo" . _:497cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206853"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:497dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:96344" . a owl:Class; rdfs:subClassOf , ; "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes."; , , ; , , , , , , ; ; "DOID:9588", "ICD10:A85", "ICD9:323.0", "ICD9:323.8", "ICD9:323.9", "MESH:D004660", "MedDRA:10014581", "NCIT:C26760", "Orphanet:97275", "SCTID:45170000", "UMLS:C0014038"; "brain inflammation"; "MONDO:0019956"; ; rdfs:comment "Editor note: consider merging with brain inflammation"; rdfs:label "encephalitis" . _:4983d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes."; "NCIT:C26760" . _:4984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:9588" . _:4985d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9588"; "MONDO:equivalentTo" . _:4987d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:A85"; "MONDO:equivalentTo" . _:498ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:323.0"; "MONDO:relatedTo", "i2s" . _:498bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:323.8"; "MONDO:relatedTo", "i2s" . _:498dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:323.9"; "MONDO:relatedTo", "i2s" . _:498fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004660"; "DOID:9588", "MONDO:equivalentTo", "ORDO:97275/e", "Orphanet:97275" . _:4992d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10014581"; "ORDO:97275/e", "Orphanet:97275" . _:4993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26760"; "DOID:9588", "MONDO:equivalentTo" . _:4995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:97275"; "MONDO:equivalentTo" . _:4997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:45170000"; "DOID:9588", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:499ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014038"; "DOID:9588", "MONDO:equivalentTo", "NCIT:C26760", "ORDO:97275/e", "Orphanet:97275" . _:49a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:49a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97275" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:97957"; "MONDO:0020001"; ; rdfs:label "respiratory or thoracic malformation" . _:49a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:97957"; "MONDO:equivalentTo" . _:49a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97957" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:97992", "UMLS:CN206939"; "MONDO:0020006"; , ; rdfs:label "rare hematologic disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:49acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:97992"; "MONDO:equivalentTo" . _:49aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206939"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:49b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97992" . a owl:Class; rdfs:subClassOf , ; "A infectious disease that involves the nervous system."; , , , ; "ICD9:349.89", "NCIT:C27590", "Orphanet:98010", "SCTID:128116006", "UMLS:C0597039"; "nervous system infectious disease", "nervous system infectious disorder"; "MONDO:0020010"; ; rdfs:label "infectious disease of the nervous system" . _:49b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A infectious disease that involves the nervous system."; "MONDO:patterns/location" . _:49b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:349.89"; "MONDO:relatedTo", "i2s" . _:49b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27590"; "MONDO:equivalentTo" . _:49bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98010"; "MONDO:equivalentTo" . _:49bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128116006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.37/0.53" . _:49bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0597039"; "MONDO:equivalentTo", "NCIT:C27590", "ORDO:98010/e", "Orphanet:98010" . _:49bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system infectious disease"; "MONDO:patterns/location" . _:49bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system infectious disorder"; "NCIT:C27590" . _:49c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98010" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:98023", "UMLS:CN206945"; "rare systemic or rheumatologic disease"; "MONDO:0020012"; ; rdfs:comment "Editor note: todo. ORDO includes vasculitis here but this is not normally included in the SARDs"; rdfs:label "systemic or rheumatic disease" . _:49c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98023"; "MONDO:equivalentTo" . _:49c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206945"; "MONDO:equivalentTo" . _:49cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare systemic or rheumatologic disease"; "Orphanet:98023" . _:49cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98023" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:98026", "UMLS:CN206946"; "MONDO:0020013"; , ; rdfs:label "rare odontologic disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:49cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98026"; "MONDO:equivalentTo" . _:49d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206946"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:49d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98026" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:98027", "UMLS:CN206947"; "MONDO:0020014"; , ; rdfs:label "rare disease with odontological manifestation"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:49d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98027"; "MONDO:equivalentTo" . _:49dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206947"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:49dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98027" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:98033", "UMLS:CN206949"; "MONDO:0020016"; , ; rdfs:label "rare neurologic disease with psychiatric involvement"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:49dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98033"; "MONDO:equivalentTo" . _:49ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206949"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:49e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98033" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:98038"; "MONDO:0020018"; ; rdfs:label "cranial malformation" . _:49e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98038"; "MONDO:equivalentTo" . _:49e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98038" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:98043"; "MONDO:0020021"; ; rdfs:label "diaphragmatic or abdominal wall malformation" . _:49e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98043"; "MONDO:equivalentTo" . _:49ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98043" . a owl:Class; rdfs:subClassOf , ; , ; "MESH:D009421", "Orphanet:98044"; "MONDO:0020022"; ; rdfs:label "central nervous system malformation" . _:49eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009421"; "MONDO:equivalentTo", "MONDO:subClassOf" . _:49efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98044"; "MONDO:equivalentTo" . _:49f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98044" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:98078", "UMLS:CN227738"; "46,XX DSD induced by androgens excess"; "MONDO:0020039"; ; rdfs:label "46,XX disorder of sex development induced by androgens excess" . _:49f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98078"; "MONDO:equivalentTo" . _:49f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227738"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:49f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX DSD induced by androgens excess"; "Orphanet:98078" . _:49f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98078" . a owl:Class; rdfs:subClassOf ; "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi."; , , ; "ICD9:049.8", "ICD9:323.4", "MESH:D000069544", "NCIT:C79550", "SCTID:312215006"; "encephalitis infection"; "MONDO:0020067"; ; rdfs:label "infectious encephalitis" . _:49f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi."; "NCIT:C79550" . _:49fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:049.8"; "MONDO:relatedTo", "i2s" . _:49fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:323.4"; "MONDO:relatedTo", "i2s" . _:4a00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000069544"; "MONDO:equivalentTo", "MONDO:ontobio" . _:4a04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C79550"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:4a06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:312215006"; "MONDO:equivalentTo" . _:4a07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephalitis infection"; "NCIT:C79550" . _:4a08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98252" . a owl:Class; rdfs:subClassOf ; ; "ICD10:N46", "Orphanet:98343"; "Male infertility due to impaired sperm transport"; "MONDO:0020091"; ; rdfs:label "male infertility due to obstructive azoospermia" . _:4a0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:98343/ntbt", "Orphanet:98343" . _:4a0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98343"; "MONDO:equivalentTo" . _:4a11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male infertility due to impaired sperm transport"; "Orphanet:98343" . _:4a13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98343" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:98514"; "MONDO:0020130"; ; rdfs:label "malformation of the cerebellar vermis" . _:4a17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98514"; "MONDO:equivalentTo" . _:4a18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98514" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:98534", "UMLS:CN207020"; "MONDO:0020136"; ; rdfs:label "neurodegenerative disease with dementia" . _:4a19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98534"; "MONDO:equivalentTo" . _:4a1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207020"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4a1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98534" . a owl:Class; rdfs:subClassOf , ; , ; , , , ; "COHD:374906", "DOID:10742", "ICD9:330.1", "Orphanet:98544", "SCTID:16517004", "UMLS:C0007788"; "cerebral lipidosis"; "MONDO:0020143"; ; rdfs:label "cerebral lipidosis with dementia" . _:4a1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:374906"; "MONDO:equivalentTo" . _:4a20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10742"; "MONDO:equivalentTo" . _:4a21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:330.1"; "DOID:10742", "MONDO:equivalentTo", "i2s" . _:4a22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98544"; "MONDO:equivalentTo" . _:4a24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:16517004"; "DOID:10742", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:4a25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007788"; "DOID:10742", "MONDO:equivalentTo" . _:4a26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral lipidosis"; "MONDO:0001107" . _:4a29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98544" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:Q11.0", "ICD10:Q11.1", "ICD10:Q11.2", "Orphanet:98555", "UMLS:CN120488"; "MONDO:0020147"; ; rdfs:label "anophthalmia-microphthalmia syndrome" . _:4a2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q11.0"; "ORDO:98555/btnt", "ORDO:98555/specific", "Orphanet:98555" . _:4a2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q11.1"; "ORDO:98555/btnt", "ORDO:98555/specific", "Orphanet:98555" . _:4a30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q11.2"; "ORDO:98555/btnt", "ORDO:98555/specific", "Orphanet:98555" . _:4a32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98555"; "MONDO:equivalentTo" . _:4a34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN120488"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4a36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98555" . a owl:Class; rdfs:subClassOf ; , ; ; "Orphanet:98559", "UMLS:CN207025"; "MONDO:0020150"; , ; rdfs:label "rare palpebral, lacrimal system and conjunctival disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4a3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98559" . _:4a3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98559"; "MONDO:equivalentTo" . _:4a3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207025"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4a40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98559" . a owl:Class; rdfs:subClassOf ; , , , , , , ; "MedDRA:10015995", "MedDRA:10037272", "Orphanet:98578", "UMLS:CN207031"; "MONDO:0020169"; , ; rdfs:label "rare disorder with ptosis"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4a41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10015995"; "ORDO:98578/e", "Orphanet:98578" . _:4a44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037272"; "ORDO:98578/e", "Orphanet:98578" . _:4a45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98578"; "MONDO:equivalentTo" . _:4a47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207031"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4a4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98578" . a owl:Class; rdfs:subClassOf ; "A neoplasm (disease) that involves the skin of eyelid."; , , ; "Orphanet:98581", "SCTID:126499002", "UMLS:CN207033"; "neoplasm of skin of eyelid", "skin of eyelid neoplasm", "skin of eyelid neoplasm (disease)", "skin of eyelid tumor", "tumor of skin of eyelid"; "MONDO:0020172"; ; rdfs:label "palpebral epidermal tumor" . _:4a4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the skin of eyelid."; "MONDO:patterns/location" . _:4a50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98581"; "MONDO:equivalentTo" . _:4a51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126499002"; "MONDO:equivalentTo" . _:4a52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207033"; "MONDO:equivalentTo" . _:4a54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of skin of eyelid"; "MONDO:patterns/neoplasm" . _:4a55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin of eyelid neoplasm (disease)"; "MONDO:patterns/location" . _:4a56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin of eyelid tumor"; "MONDO:patterns/neoplasm" . _:4a58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of skin of eyelid"; "MONDO:patterns/neoplasm" . _:4a59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98581" . a owl:Class; rdfs:subClassOf , ; "A benign neoplasm that involves the skin of eyelid."; , ; "Orphanet:98582", "UMLS:CN207034"; "skin of eyelid benign neoplasm"; "MONDO:0020173"; ; rdfs:label "benign tumor of palpebral epidermis" . _:4a68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign neoplasm that involves the skin of eyelid."; "MONDO:patterns/location" . _:4a6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98582"; "MONDO:equivalentTo" . _:4a6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207034"; "MONDO:equivalentTo" . _:4a6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin of eyelid benign neoplasm"; "MONDO:patterns/location" . _:4a72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98582" . a owl:Class; rdfs:subClassOf ; ; ; "Orphanet:98618"; "MONDO:0020206"; , ; rdfs:label "rare refraction anomaly"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:4a74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98618"; "MONDO:equivalentTo" . _:4a75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98618" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:98642"; "MONDO:0020226"; ; rdfs:label "chromosomal anomaly with cataract" . _:4a76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98642"; "MONDO:equivalentTo" . _:4a77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98642" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:98716"; "MONDO:0020284"; ; rdfs:label "heart position anomaly" . _:4a7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98716"; "MONDO:equivalentTo" . _:4a7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98716" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:98717"; "MONDO:0020285"; ; rdfs:label "transposition of the great arteries and conotruncal cardiac anomaly" . _:4a80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98717"; "MONDO:equivalentTo" . _:4a81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98717" . a owl:Class; rdfs:subClassOf ; "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions."; ; "cjm"; "2017-09-30T12:01:25Z"; "MESH:D020022"; "hereditary disease susceptibility", "hereditary predisposition to disease"; "genetic predisposition", "genetic predispositions", "genetic susceptibilities", "genetic susceptibility", "predisposition, genetic", "predispositions, genetic", "susceptibilities, genetic", "susceptibility, genetic"; "MONDO:0020573"; ; rdfs:label "inherited disease susceptibility" . _:4a85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions."; "MESH:D020022" . _:4a89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020022"; "MONDO:equivalentTo", "MONDO:ontobio" . _:4a8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary disease susceptibility"; "MONDO:patterns/hereditary" . _:4a8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary predisposition to disease"; "MONDO:patterns/hereditary" . _:4a8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic predisposition"; "MESH:D020022" . _:4a91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic predispositions"; "MESH:D020022" . _:4a93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic susceptibilities"; "MESH:D020022" . _:4a95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic susceptibility"; "MESH:D020022" . _:4a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "predisposition, genetic"; "MESH:D020022" . _:4a9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "predispositions, genetic"; "MESH:D020022" . _:4a9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "susceptibilities, genetic"; "MESH:D020022" . _:4a9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "susceptibility, genetic"; "MESH:D020022" . a owl:Class; rdfs:subClassOf ; "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis."; , ; "NCIT:C131630", "UMLS:C4329304"; "anemia due to erythrocyte enzyme disorder"; "MONDO:0020585"; rdfs:label "anemia due to erythrocyte enzyme disorder" . _:4aa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis."; "NCIT:C131630" . _:4aa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131630"; "MONDO:equivalentTo" . _:4aa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4329304"; "MONDO:equivalentTo" . _:4aa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia due to erythrocyte enzyme disorder"; "NCIT:C131630" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the retroperitoneal space."; ; , ; "NCIT:C27667", "SCTID:734045002"; "disease of retroperitoneal space", "disease or disorder of retroperitoneal space", "disorder of retroperitoneal space", "retroperitoneal disease", "retroperitoneal disorder", "retroperitoneal space disease", "retroperitoneal space disease or disorder"; "MONDO:0020595"; rdfs:label "disease of retroperitoneum" . _:4aa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the retroperitoneal space."; "MONDO:patterns/location" . _:4aa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27667"; "MONDO:equivalentTo" . _:4aaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:734045002"; "MONDO:equivalentTo" . _:4aabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of retroperitoneal space"; "MONDO:patterns/location_top" . _:4aacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of retroperitoneal space"; "MONDO:patterns/location_top" . _:4aaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal disease"; "NCIT:C27667" . _:4ab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal disorder"; "NCIT:C27667" . _:4ab2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal space disease or disorder"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf ; "X-linked dominant form of disease."; ; "DOID:0080009"; "MONDO:0020604"; rdfs:label "X-linked dominant disease" . _:4ab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked dominant form of disease."; "MONDO:patterns/x_linked" . _:4ab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080009"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "X-linked recessive form of disease."; ; "DOID:0080012"; "MONDO:0020605"; rdfs:label "X-linked recessive disease" . _:4ab9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked recessive form of disease."; "MONDO:patterns/x_linked" . _:4abcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080012"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; ; "ICD9:758.81", "SCTID:82852009"; "sex-linked hereditary disorder"; "MONDO:0020606"; rdfs:label "sex-linked disease" . _:4abdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:82852009"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "OMIMPS:210900"; "MGRISCE"; "MONDO:0020629"; rdfs:label "microcephaly, growth restriction and increased sister chromatid exchange" . _:4abed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:210900"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "MONDO:0020636"; ; rdfs:label "mendelian susceptibility to mycobacterial diseases due to a complete deficiency" . a owl:Class; rdfs:subClassOf ; "MONDO:0020637"; ; rdfs:label "mendelian susceptibility to mycobacterial diseases due to a partial deficiency" . a owl:Class; rdfs:subClassOf ; "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number."; , ; "MESH:D009006", "NCIT:C3239"; "monosomy"; "MONDO:0020639"; rdfs:label "monosomy" . _:4ac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number."; "NCIT:C3239" . _:4ac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009006"; "MONDO:equivalentTo" . _:4ac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3239"; "MONDO:equivalentTo" . _:4ac6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy"; "NCIT:C3239" . a owl:Class; rdfs:subClassOf ; "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis."; , , ; "DOID:0080322", "NCIT:C75464", "OMIMPS:173900", "SCTID:82525005"; "PKD - polycystic kidney disease", "fibrocystic renal disease", "polycystic kidney disease"; "MONDO:0020642"; rdfs:label "polycystic kidney disease" . _:4ad3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis."; "NCIT:C75464" . _:4ad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080322"; "MONDO:equivalentTo" . _:4ad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75464"; "MONDO:equivalentTo" . _:4adbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:173900"; "DOID:898", "MONDO:equivalentTo" . _:4adcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:82525005"; "MONDO:equivalentTo" . _:4addd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PKD - polycystic kidney disease"; "NCIT:C75464" . _:4adfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fibrocystic renal disease"; "NCIT:C75464" . _:4ae0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic kidney disease"; "NCIT:C75464", "OMIMPS:173900" . a owl:Class; rdfs:subClassOf ; "central nervous system or retinal vascular disease", "retina/CNS vascular disease"; "MONDO:0020676"; rdfs:comment "Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease"; rdfs:label "disease of central nervous system or retinal vasculature" . a owl:Class; rdfs:subClassOf ; "Disease having a short and relatively severe course."; , , ; "ICD9:799.89", "MESH:D000208", "SCTID:2704003", "UMLS:C0001314"; "acute disease"; "Disease, Acute", "Diseases, Acute", "acute Disease", "acute Diseases", "acute disease"; "MONDO:0020683"; rdfs:label "acute disease" . _:4ae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disease having a short and relatively severe course."; "MESH:D000208" . _:4ae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:799.89"; "linkedlife" . _:4aead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000208"; "MONDO:equivalentTo", "UMLS:C0001314" . _:4aeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:2704003"; "MONDO:equivalentTo", "UMLS:C0001314" . _:4af3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001314"; "MONDO:equivalentTo" . _:4af4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disease, Acute"; "MESH:D000208", "MSH:D000208" . _:4af9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diseases, Acute"; "MESH:D000208", "MSH:D000208" . _:4afad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute Disease"; "MSH:D000208" . _:4afbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute Diseases"; "MESH:D000208", "MSH:D000208" . _:4afed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute disease"; "UMLS:C0001314" . a owl:Class; rdfs:subClassOf , , ; "MONDO:0020720"; rdfs:label "X-linked hypophosphatemic rickets (recessive or dominant)" . a owl:Class; rdfs:subClassOf , ; "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms."; , , , , , , ; , , , ; "COHD:74740", "DOID:1148", "HP:0010442", "ICD10:Q69", "ICD10:Q69.0", "ICD10:Q69.1", "ICD10:Q69.2", "ICD10:Q69.9", "ICD9:755.0", "ICD9:755.00", "MedDRA:10036063", "NCIT:C87110", "OMIM:603596", "SCTID:367506006"; "hyperdactyly", "polydactylism"; "polydactyly", "postaxial polydactyly", "supernumerary digit"; "MONDO:0021003"; rdfs:label "polydactyly (disease)" . _:4b0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms."; "MONDO:DesignPattern" . _:4b10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:74740"; "MONDO:equivalentTo" . _:4b11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1148"; "MONDO:equivalentTo" . _:4b18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0010442"; "MONDO:otherHierarchy", "ontobio" . _:4b1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69"; "DOID:1148" . _:4b1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.0"; "Orphanet:2913" . _:4b1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.1"; "Orphanet:2913" . _:4b1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.2"; "Orphanet:2913" . _:4b20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.9"; "DOID:1148", "Orphanet:2913" . _:4b22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:755.0"; "DOID:1148" . _:4b23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:755.00"; "DOID:1148", "MONDO:equivalentTo", "i2s" . _:4b24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036063"; "Orphanet:2913" . _:4b25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C87110"; "DOID:1148", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.76/8.04" . _:4b2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603596"; "DOID:1148", "MONDO:equivalentTo", "Orphanet:2913" . _:4b2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:367506006"; "DOID:1148", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.49" . _:4b30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperdactyly"; "NCIT:C87110" . _:4b31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polydactylism"; "NCIT:C87110" . _:4b32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polydactyly"; "MONDO:ambiguous", "OMIM:603596" . _:4b34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "postaxial polydactyly"; "DOID:1148" . _:4b36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "supernumerary digit"; "DOID:1148" . a owl:Class; rdfs:subClassOf ; "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms."; , ; "DOID:0050581", "HP:0001156", "MESH:D059327"; "brachydactyly"; "MONDO:0021004"; rdfs:label "brachydactyly (disease)" . _:4b3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms."; "MONDO:DesignPattern" . _:4b3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050581"; "MONDO:equivalentTo" . _:4b3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001156"; "MONDO:otherHierarchy", "ontobio" . _:4b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D059327"; "MONDO:equivalentTo", "MONDO:ontobio" . _:4b45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brachydactyly"; "DOID:0050581" . a owl:Class; rdfs:subClassOf ; "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them."; , ; "MESH:D053447", "UMLS:C1720983"; "disorder of ion channel activity", "ion channel activity disease"; "disorder of ion channel activity"; "MONDO:0021016"; rdfs:label "channelopathy" . _:4b4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them."; "https://en.wikipedia.org/wiki/Channelopathy" . _:4b4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D053447"; "MONDO:equivalentTo", "MONDO:ontobio" . _:4b4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1720983"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4b4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ion channel activity"; "MONDO:patterns/basis_in_disruption_of_process" . _:4b4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ion channel activity disease"; "MONDO:design_pattern" . _:4b5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ion channel activity"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A disease caused by dysfunction of synapses."; "MONDO:0021017"; rdfs:label "synaptopathy" . _:4b5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease caused by dysfunction of synapses."; "https://en.wikipedia.org/wiki/Synaptopathy" . a owl:Class; rdfs:subClassOf ; "An instance of alopecia that is caused by a modification of the individual's genome."; ; "Orphanet:481771"; "genetic alopecia"; "MONDO:0021034"; rdfs:label "genetic alopecia" . _:4b60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of alopecia that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:4b62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:481771"; "MONDO:0021034", "MONDO:equivalentTo" . _:4b63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic alopecia"; "MONDO:patterns/genetic" . a owl:Class; rdfs:subClassOf ; "A neoplasm composed of at least two distinct cellular populations."; ; , ; "ICDO:8940/1", "MESH:D018193", "NCIT:C6930"; "mixed neoplasm", "mixed tumor"; "MONDO:0021043"; rdfs:label "mixed neoplasm" . _:4b64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm composed of at least two distinct cellular populations."; "NCIT:C6930" . _:4b65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8940/1"; "NCIT:C6930" . _:4b66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018193"; "MONDO:equivalentTo" . _:4b67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C6930"; "MONDO:equivalentTo" . _:4b68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed neoplasm"; "NCIT:C6930" . _:4b69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed tumor"; "NCIT:C6930" . a owl:Class; rdfs:subClassOf , ; "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP."; "classic or attenuated FAP"; "MONDO:0021057"; rdfs:label "classic or attenuated familial adenomatous polyposis" . _:4b74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP."; "MONDO:cjm" . a owl:Class; rdfs:subClassOf , ; "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired."; ; ; "NCIT:C54705"; "cancer-related syndrome", "neoplastic syndrome", "tumor syndrome"; "MONDO:0021058"; rdfs:comment "Editor note: consider merging with MONDO:0016645"; rdfs:label "neoplastic syndrome" . _:4b75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired."; "NCIT:C54705" . _:4b76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C54705"; "MONDO:equivalentTo" . _:4b77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer-related syndrome"; "NCIT:C54705" . _:4b78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplastic syndrome"; "NCIT:C54705" . _:4b79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor syndrome"; "NCIT:C54705" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003"; ; , ; "ICD9:239.5", "NCIT:C3431", "ONCOTREE:BLADDER", "SCTID:126879004"; "neoplasm of renal system", "neoplasm of the urinary system", "neoplasm of the urinary tract", "neoplasm of urinary system", "neoplasm of urinary tract", "renal system neoplasm", "renal system neoplasm (disease)", "renal system tumor", "tumor of renal system", "tumor of the urinary system", "tumor of the urinary tract", "tumor of urinary system", "tumor of urinary tract", "urinary system neoplasm", "urinary system tumor", "urinary tract neoplasm", "urinary tract tumor"; "MONDO:0021066"; rdfs:comment "Editor note: note the ONCOTREE class is more general than just bladder"; rdfs:label "urinary system neoplasm" . _:4b7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003"; "NCIT:C3431" . _:4b7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.5"; "MONDO:relatedTo", "i2s" . _:4b80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3431"; "MONDO:equivalentTo" . _:4b82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:BLADDER"; "MONDO:equivalentTo" . _:4b83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126879004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.87/0.73/0.06" . _:4b86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of renal system"; "MONDO:patterns/neoplasm" . _:4b87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the urinary system"; "NCIT:C3431" . _:4b88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the urinary tract"; "NCIT:C3431" . _:4b89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of urinary system"; "NCIT:C3431" . _:4b8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of urinary tract"; "NCIT:C3431" . _:4b90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal system neoplasm (disease)"; "MONDO:patterns/location" . _:4b92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal system tumor"; "MONDO:patterns/neoplasm" . _:4b95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of renal system"; "MONDO:patterns/neoplasm" . _:4b97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the urinary system"; "NCIT:C3431" . _:4b98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the urinary tract"; "NCIT:C3431" . _:4b99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of urinary system"; "NCIT:C3431" . _:4b9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of urinary tract"; "NCIT:C3431" . _:4b9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary system neoplasm"; "NCIT:C3431" . _:4b9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary system tumor"; "NCIT:C3431" . _:4ba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary tract neoplasm"; "NCIT:C3431" . _:4bb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary tract tumor"; "NCIT:C3431" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma."; , , , , , , , ; , , ; "DOID:170", "ICD10:C75.9", "ICD9:194.9", "MESH:D004701", "NCIT:C3575"; "Endocrine tumor", "cancer of endocrine gland", "endocrine cancer", "endocrine gland cancer", "endocrine neoplasm", "endocrine neoplasm, malignant", "malignant endocrine gland neoplasm", "malignant endocrine gland tumor", "malignant endocrine neoplasm", "malignant endocrine tumor", "malignant neoplasm of endocrine gland", "malignant neoplasm of the endocrine gland", "malignant tumor of endocrine gland", "malignant tumor of the endocrine gland", "malignant tumour of endocrine gland", "neoplasm of endocrine gland", "neoplasm of endocrine system"; "endocrine cancer, NOS"; "MONDO:0021069"; rdfs:label "malignant endocrine neoplasm" . _:4bc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma."; "NCIT:C3575" . _:4bc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:170"; "MONDO:equivalentTo" . _:4bc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C75.9"; "DOID:170" . _:4bcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:194.9"; "DOID:170" . _:4bccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004701"; "DOID:170", "MONDO:equivalentTo", "MONDO:ontobio" . _:4bcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3575"; "DOID:170", "MONDO:equivalentTo" . _:4bced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Endocrine tumor"; "DOID:170" . _:4bd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of endocrine gland"; "MONDO:patterns/cancer" . _:4bd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine cancer"; "NCIT:C3575" . _:4bd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine gland cancer"; "MONDO:patterns/location" . _:4bd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine neoplasm"; "DOID:170" . _:4bd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine neoplasm, malignant"; "NCIT:C3575" . _:4bd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant endocrine gland neoplasm"; "MONDO:patterns/cancer", "NCIT:C3575" . _:4bdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant endocrine gland tumor"; "NCIT:C3575" . _:4bdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant endocrine neoplasm"; "NCIT:C3575" . _:4bddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant endocrine tumor"; "NCIT:C3575" . _:4bdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of endocrine gland"; "MONDO:patterns/cancer", "NCIT:C3575" . _:4be0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the endocrine gland"; "NCIT:C3575" . _:4be1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of endocrine gland"; "NCIT:C3575" . _:4be3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the endocrine gland"; "NCIT:C3575" . _:4be4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumour of endocrine gland"; "DOID:170" . _:4be6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of endocrine gland"; "DOID:170" . _:4be7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of endocrine system"; "DOID:170" . _:4be8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine cancer, NOS"; "NCIT:C3575"; . a owl:Class; rdfs:subClassOf ; "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia."; ; , ; "MESH:D011230", "NCIT:C3341"; "precancerous condition", "precancerous state", "premalignant condition", "premalignant state"; "MONDO:0021074"; rdfs:comment "Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome"; rdfs:label "precancerous condition" . _:4bf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia."; "NCIT:C3341" . _:4bf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011230"; "MONDO:equivalentTo" . _:4bfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3341"; "MONDO:equivalentTo" . _:4bfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "precancerous condition"; "NCIT:C3341" . _:4bfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "precancerous state"; "NCIT:C3341" . _:4bfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "premalignant condition"; "NCIT:C3341" . _:4bfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "premalignant state"; "NCIT:C3341" . a owl:Class; rdfs:subClassOf , ; , ; "NCIT:C7068", "UMLS:C1334941"; "neoplastic polyp"; "MONDO:0021075"; rdfs:label "neoplastic polyp" . _:4c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7068"; "MONDO:equivalentTo" . _:4c02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1334941"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C7068" . _:4c04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplastic polyp"; "NCIT:C7068" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue."; , , ; "ICD9:235.5", "NCIT:C4445", "SCTID:254604005", "UMLS:C0345920"; "exocrine pancreas neoplasm", "exocrine pancreas neoplasm (disease)", "exocrine pancreas tumor", "neoplasm of exocrine pancreas", "neoplasm of the exocrine pancreas", "pancreatic exocrine neoplasm", "pancreatic exocrine tumor", "tumor of exocrine pancreas", "tumor of the exocrine pancreas"; "MONDO:0021076"; rdfs:label "pancreatic exocrine neoplasm" . _:4c0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue."; "NCIT:C4445" . _:4c0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:235.5"; "MONDO:relatedTo", "i2s" . _:4c0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4445"; "MONDO:equivalentTo" . _:4c10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254604005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.09" . _:4c13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345920"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C4445" . _:4c15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exocrine pancreas neoplasm"; "NCIT:C4445" . _:4c18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exocrine pancreas neoplasm (disease)"; "MONDO:patterns/location" . _:4c19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exocrine pancreas tumor"; "MONDO:patterns/neoplasm", "NCIT:C4445" . _:4c1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of exocrine pancreas"; "MONDO:patterns/neoplasm", "NCIT:C4445" . _:4c1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the exocrine pancreas"; "NCIT:C4445" . _:4c20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic exocrine neoplasm"; "NCIT:C4445" . _:4c22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic exocrine tumor"; "NCIT:C4445" . _:4c24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of exocrine pancreas"; "MONDO:patterns/neoplasm", "NCIT:C4445" . _:4c25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the exocrine pancreas"; "NCIT:C4445" . a owl:Class; rdfs:subClassOf , ; "A neoplasm arising from arteries or veins."; ; , ; "NCIT:C7387", "SCTID:126736007"; "blood vessel neoplasm", "blood vessel neoplasm (disease)", "blood vessel tumor", "neoplasm of blood vessel", "tumor of blood vessel"; "MONDO:0021080"; rdfs:label "blood vessel neoplasm" . _:4c27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm arising from arteries or veins."; "NCIT:C7387" . _:4c28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7387"; "MONDO:equivalentTo" . _:4c2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126736007"; "MONDO:equivalentTo" . _:4c2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel neoplasm"; "NCIT:C7387" . _:4c2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel neoplasm (disease)"; "MONDO:patterns/location" . _:4c2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood vessel tumor"; "MONDO:patterns/neoplasm", "NCIT:C7387" . _:4c2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of blood vessel"; "MONDO:patterns/neoplasm" . _:4c2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of blood vessel"; "MONDO:patterns/neoplasm" . a owl:Class; rdfs:subClassOf , ; "Any impairment to the vision."; , , , ; "disorder of visual system", "visual system disorder"; "MESH:D014786", "NCIT:C35126", "SCTID:95677002", "UMLS:C0042790"; "disorder of vision", "vision disorder", "visual disorder"; "visual Field disorder"; "MONDO:0021084"; rdfs:label "vision disorder" . _:4c34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any impairment to the vision."; "NCIT:C35126" . _:4c36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of visual system"; "NCIT:C35126" . _:4c37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visual system disorder"; "NCIT:C35126" . _:4c3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014786"; "MONDO:equivalentTo" . _:4c3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35126"; "MONDO:equivalentTo" . _:4c3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95677002"; "MONDO:equivalentTo" . _:4c3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042790"; "MONDO:equivalentTo", "NCIT:C35126" . _:4c40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vision disorder"; "NCIT:C35126" . _:4c41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visual disorder"; "NCIT:C35126" . _:4c42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visual Field disorder"; "NCIT:C35126" . a owl:Class; rdfs:subClassOf ; "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."; , ; ; "COHD:433740", "ICD9:279.3", "NCIT:C3131", "OMIMPS:300755", "SCTID:234532001"; "immuno-deficiency", "immunodeficiency", "immunodeficiency disorder"; "immunodeficiency syndrome"; "MONDO:0021094"; rdfs:label "immunodeficiency disease" . _:4c49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."; "NCIT:C3131-modified" . _:4c4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C3131", "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18" . _:4c4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:433740"; "MONDO:equivalentTo" . _:4c4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.3"; "MONDO:equivalentTo", "i2s" . _:4c51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3131"; "MONDO:equivalentTo", "NCIT:C3131" . _:4c52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:300755"; "MONDO:equivalentTo" . _:4c55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234532001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.84" . _:4c57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immuno-deficiency"; "NCIT:C3131" . _:4c58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency"; "NCIT:C3131" . _:4c59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency disorder"; "NCIT:C3131" . _:4c5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency syndrome"; "NCIT:C3131", "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18" . a owl:Class; rdfs:subClassOf ; "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."; ; "MESH:D020734"; "MONDO:0021095"; rdfs:comment "Editor note: TODO"; rdfs:label "parkinsonian disorder" . _:4c5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."; "MESH:D020734" . _:4c60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020734"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm involving the small or large intestine."; , , ; , , ; "DOID:4610", "NCIT:C3141", "ONCOTREE:BOWEL", "SCTID:126769007"; "intestinal neoplasm", "intestinal neoplasms", "intestinal tumor", "intestinal tumors", "intestine growth", "intestine neoplasm", "intestine neoplasm (disease)", "intestine tumor", "neoplasm of intestinal tract", "neoplasm of intestine", "neoplasm of intestines", "neoplasm of the intestines", "tumor of intestine", "tumor of intestines", "tumor of the intestines"; "bowel neoplasm", "intestinal benign neoplasm"; "MONDO:0021118"; rdfs:label "intestinal neoplasm" . _:4c63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm involving the small or large intestine."; "NCIT:C3141" . _:4c65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4610"; "MONDO:equivalentTo" . _:4c6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3141"; "DOID:4610", "MONDO:equivalentTo" . _:4c6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:BOWEL"; "MONDO:equivalentTo" . _:4c6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126769007"; "DOID:4610", "MONDO:equivalentTo", "MONDO:kboom-pr-0.98/0.92/2.11" . _:4c71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal neoplasm"; "NCIT:C3141" . _:4c72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal neoplasms"; "NCIT:C3141" . _:4c73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal tumor"; "NCIT:C3141" . _:4c74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal tumors"; "DOID:4610", "NCIT:C3141" . _:4c76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestine growth"; "CSP2005:2010-1074", "DOID:4610" . _:4c77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestine neoplasm (disease)"; "MONDO:patterns/location" . _:4c78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestine tumor"; "MONDO:patterns/neoplasm" . _:4c79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of intestinal tract"; "DOID:4610" . _:4c7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of intestine"; "MONDO:patterns/neoplasm" . _:4c80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of intestines"; "NCIT:C3141" . _:4c81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the intestines"; "NCIT:C3141" . _:4c84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of intestine"; "MONDO:patterns/neoplasm" . _:4c85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of intestines"; "NCIT:C3141" . _:4c86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the intestines"; "NCIT:C3141" . _:4c87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bowel neoplasm"; "ONCOTREE:BOWEL" . _:4c8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal benign neoplasm"; "DOID:4610" . a owl:Class; rdfs:subClassOf , ; , , , ; "MESH:D018326", "NCIT:C7058", "SCTID:399956005", "UMLS:C1302746"; "melanocytic neoplasm"; "melanomas and nevi"; "MONDO:0021143"; rdfs:label "melanocytic neoplasm" . _:4c8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018326"; "MONDO:equivalentTo" . _:4c90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7058"; "MONDO:equivalentTo" . _:4c92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:399956005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:4c94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1302746"; "MONDO:equivalentTo", "NCIT:C7058" . _:4c95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanocytic neoplasm"; "NCIT:C7058" . _:4c9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanomas and nevi"; "MESH:D018326" . a owl:Class; rdfs:subClassOf ; "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."; "MONDO:0021147"; rdfs:label "disorder of development or morphogenesis" . _:4c9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."; "MONDO:cjm" . a owl:Class; rdfs:subClassOf , ; "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma."; , , ; "EFO:1001331", "MESH:D005833", "NCIT:C3053", "UMLS:C0017416"; "female reproductive organ neoplasm (disease)", "female reproductive organ tumor", "female reproductive system neoplasm", "female reproductive system neoplasm (disease)", "female reproductive system tumor", "gynecologic neoplasm", "gynecologic tumor", "neoplasm of female reproductive organ", "neoplasm of female reproductive system", "neoplasm of the female reproductive system", "tumor of female reproductive system", "tumor of the female reproductive system"; "MONDO:0021148"; rdfs:label "female reproductive system neoplasm" . _:4c9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma."; "NCIT:C3053" . _:4ca0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1001331"; "MONDO:equivalentTo" . _:4ca3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005833"; "MONDO:equivalentTo" . _:4ca5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3053"; "DesignPattern", "MONDO:equivalentTo" . _:4ca7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017416"; "MONDO:equivalentTo", "NCIT:C3053" . _:4ca8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive organ neoplasm (disease)"; "MONDO:patterns/location" . _:4ca9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive organ tumor"; "MONDO:patterns/neoplasm" . _:4cafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system neoplasm"; "NCIT:C3053" . _:4cb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system neoplasm (disease)"; "MONDO:patterns/location" . _:4cb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system tumor"; "MONDO:patterns/neoplasm", "NCIT:C3053" . _:4cb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gynecologic neoplasm"; "NCIT:C3053" . _:4cb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gynecologic tumor"; "NCIT:C3053" . _:4cb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of female reproductive organ"; "MONDO:patterns/neoplasm" . _:4cb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of female reproductive system"; "MONDO:patterns/neoplasm", "NCIT:C3053" . _:4cbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the female reproductive system"; "NCIT:C3053" . _:4cbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of female reproductive system"; "MONDO:patterns/neoplasm", "NCIT:C3053" . _:4cbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the female reproductive system"; "NCIT:C3053" . a owl:Class; rdfs:subClassOf ; "A disease that involves the dermis."; , ; ; "Orphanet:79381", "UMLS:CN227618"; "dermis disease", "dermis disease or disorder", "disease of dermis", "disease or disorder of dermis", "disorder of dermis", "other dermis disorder"; "disorder of dermis"; "MONDO:0021154"; ; rdfs:label "dermis disease" . _:4cc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the dermis."; "MONDO:patterns/location" . _:4cc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79381" . _:4cc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79381"; "MONDO:equivalentTo" . _:4cc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227618"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:4cc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dermis disease"; "MONDO:patterns/location" . _:4cc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dermis disease or disorder"; "MONDO:patterns/location" . _:4cc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of dermis"; "MONDO:patterns/location_top" . _:4cc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of dermis"; "MONDO:patterns/location_top" . _:4cc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "other dermis disorder"; "MONDO:0019295" . _:4ccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of dermis"; "MONDO:patterns/location_top" . _:4cccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79381" . a owl:Class; rdfs:subClassOf , ; "X-linked form of cone-rod dystrophy."; "cone-rod dystrophy, X-linked"; "MONDO:0021155"; rdfs:label "X-linked cone-rod dystrophy" . _:4cced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked form of cone-rod dystrophy."; "MONDO:patterns/x_linked" . _:4cd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cone-rod dystrophy, X-linked"; "MONDO:patterns/x_linked" . a owl:Class; rdfs:subClassOf ; "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins."; , ; "MESH:D057165", "UMLS:C2718001"; "Proteostasis deficiency", "Proteostasis dysfunction", "Proteostasis dysfunctions", "deficiencies, Proteostasis", "deficiency, Proteostasis", "dysfunction, Proteostasis", "dysfunctions, Proteostasis"; "Misfolding disease, Protein", "Misfolding diseases, Protein", "Misfolding disorder, Protein", "Misfolding disorders, Protein", "Protein Misfolding disease", "Protein Misfolding diseases", "Protein Misfolding disorder", "Protein Misfolding disorders", "Protein folding disease", "Protein folding diseases", "Protein folding disorder", "Protein folding disorders", "disease, Protein Misfolding", "disease, Protein folding", "diseases, Protein Misfolding", "diseases, Protein folding", "disorder, Protein Misfolding", "disorder, Protein folding", "disorders, Protein Misfolding", "disorders, Protein folding", "folding disease, Protein", "folding diseases, Protein", "folding disorder, Protein", "folding disorders, Protein"; "proteinopathy", "proteopathic disease", "proteopathy"; "MONDO:0021179"; rdfs:label "proteostasis deficiencies" . _:4cefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins."; "MESH:D057165" . _:4cf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D057165"; "MONDO:equivalentTo" . _:4cf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2718001"; "MONDO:equivalentTo" . _:4cf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Proteostasis deficiency"; "MESH:D057165" . _:4cf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Proteostasis dysfunction"; "MESH:D057165" . _:4cf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Proteostasis dysfunctions"; "MESH:D057165" . _:4cf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiencies, Proteostasis"; "MESH:D057165" . _:4cf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency, Proteostasis"; "MESH:D057165" . _:4cfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysfunction, Proteostasis"; "MESH:D057165" . _:4cfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysfunctions, Proteostasis"; "MESH:D057165" . _:4d01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Misfolding disease, Protein"; "MESH:D057165" . _:4d03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Misfolding diseases, Protein"; "MESH:D057165" . _:4d04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Misfolding disorder, Protein"; "MESH:D057165" . _:4d06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Misfolding disorders, Protein"; "MESH:D057165" . _:4d07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein Misfolding disease"; "MESH:D057165" . _:4d08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein Misfolding diseases"; "MESH:D057165" . _:4d0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein Misfolding disorder"; "MESH:D057165" . _:4d0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein Misfolding disorders"; "MESH:D057165" . _:4d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein folding disease"; "MESH:D057165" . _:4d0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein folding diseases"; "MESH:D057165" . _:4d0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein folding disorder"; "MESH:D057165" . _:4d10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein folding disorders"; "MESH:D057165" . _:4d11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, Protein Misfolding"; "MESH:D057165" . _:4d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, Protein folding"; "MESH:D057165" . _:4d15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, Protein Misfolding"; "MESH:D057165" . _:4d16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, Protein folding"; "MESH:D057165" . _:4d17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, Protein Misfolding"; "MESH:D057165" . _:4d19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, Protein folding"; "MESH:D057165" . _:4d1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, Protein Misfolding"; "MESH:D057165" . _:4d1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, Protein folding"; "MESH:D057165" . _:4d20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "folding disease, Protein"; "MESH:D057165" . _:4d21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "folding diseases, Protein"; "MESH:D057165" . _:4d23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "folding disorder, Protein"; "MESH:D057165" . _:4d24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "folding disorders, Protein"; "MESH:D057165" . _:4d25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proteinopathy"; "MONDO:cjm", "https://en.wikipedia.org/wiki/Proteopathy" . _:4d27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proteopathic disease"; "MONDO:cjm", "https://en.wikipedia.org/wiki/Proteopathy" . _:4d29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proteopathy"; "MONDO:cjm", "https://en.wikipedia.org/wiki/Proteopathy" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of intestinal motility."; "disorder of intestinal motility"; "disorder of intestinal motility"; "MONDO:0021189"; rdfs:label "intestinal motility disease" . _:4d2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of intestinal motility."; "MONDO:patterns/basis_in_disruption_of_process" . _:4d31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of intestinal motility"; "MONDO:patterns/basis_in_disruption_of_process" . _:4d33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of intestinal motility"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors."; ; , ; "MESH:D018302", "NCIT:C3787", "ONCOTREE:PRNET"; "neoplasm of neuroepithelial tissue", "neoplasm of neuroepithelium", "neoplasm of the neuroepithelium", "neuroepithelial neoplasm", "neuroepithelial neoplasms", "neuroepithelial tissue neoplasm", "neuroepithelial tissue tumor", "neuroepithelial tumor", "neuroepithelial tumors", "tumor of neuroepithelial tissue", "tumor of neuroepithelium", "tumor of the neuroepithelium"; "primary neuroepithelial tumor"; "MONDO:0021193"; rdfs:comment "Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm"; rdfs:label "neuroepithelial neoplasm" . _:4d38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors."; "NCIT:C3787" . _:4d3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018302"; "MONDO:equivalentTo" . _:4d3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3787"; "MONDO:equivalentTo" . _:4d41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:PRNET"; "MONDO:equivalentTo" . _:4d43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of neuroepithelial tissue"; "NCIT:C3787" . _:4d44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of neuroepithelium"; "NCIT:C3787" . _:4d45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the neuroepithelium"; "NCIT:C3787" . _:4d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroepithelial neoplasm"; "NCIT:C3787" . _:4d4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroepithelial neoplasms"; "NCIT:C3787" . _:4d4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroepithelial tissue neoplasm"; "NCIT:C3787" . _:4d4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroepithelial tissue tumor"; "NCIT:C3787" . _:4d4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroepithelial tumor"; "NCIT:C3787" . _:4d52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroepithelial tumors"; "NCIT:C3787" . _:4d53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of neuroepithelial tissue"; "NCIT:C3787" . _:4d54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of neuroepithelium"; "NCIT:C3787" . _:4d55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the neuroepithelium"; "NCIT:C3787" . _:4d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary neuroepithelial tumor"; "ONCOTREE:PRNET" . a owl:Class; rdfs:subClassOf ; "A grouping of diseases based on molecular activity, cellular process or subcellular component."; "MONDO:0021194"; ; rdfs:label "disease by subcellular system affected" . _:4d57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A grouping of diseases based on molecular activity, cellular process or subcellular component."; "MONDO:cjm" . a owl:Class; rdfs:subClassOf ; "MONDO:0021195"; ; rdfs:label "disease by cellular process disrupted" . a owl:Class; rdfs:subClassOf ; "MONDO:0021196"; ; rdfs:label "disease by molecular activity disrupted" . a owl:Class; rdfs:subClassOf ; "MONDO:0021197"; ; rdfs:label "disease by cellular component affected" . a owl:Class; rdfs:subClassOf ; "A disease that disrupts the functioning of an organ system."; , , ; "DOID:7", "ICD9:796.4", "SCTID:362965005", "UMLS:C1285159"; "anatomical system disease", "disease of anatomical system"; "disease of anatomical entity", "disorder of anatomical system"; "MONDO:0021199"; ; rdfs:label "disease by anatomical system" . _:4d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that disrupts the functioning of an organ system."; "MONDO:cjm" . _:4d5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:7"; "MONDO:equivalentTo" . _:4d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:796.4"; "MONDO:relatedTo", "i2s" . _:4d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:362965005"; "MONDO:equivalentTo" . _:4d64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1285159"; "MONDO:equivalentTo" . _:4d67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anatomical system disease"; "MONDO:patterns/location" . _:4d68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of anatomical system"; "MONDO:patterns/location_top" . _:4d69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of anatomical entity"; "DOID:7" . _:4d6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of anatomical system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , , ; "A neoplasm (disease) that involves the retina."; ; ; "EFO:1000509", "NCIT:C4800"; "neoplasm of retina", "neoplasm of the retina", "retina neoplasm (disease)", "retina tumor", "retinal neoplasm", "retinal tumor", "tumor of retina", "tumor of the retina"; "MONDO:0021231"; rdfs:label "retina neoplasm" . _:4d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the retina."; "MONDO:patterns/location" . _:4d78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1000509"; "MONDO:equivalentTo" . _:4d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4800"; "MONDO:equivalentTo" . _:4d7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of retina"; "MONDO:patterns/neoplasm" . _:4d7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the retina"; "NCIT:C4800" . _:4d7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retina neoplasm (disease)"; "MONDO:patterns/location" . _:4d7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retina tumor"; "MONDO:patterns/neoplasm", "NCIT:C4800" . _:4d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal neoplasm"; "NCIT:C4800" . _:4d80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal tumor"; "NCIT:C4800" . _:4d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of retina"; "MONDO:patterns/neoplasm", "NCIT:C4800" . _:4d83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the retina"; "NCIT:C4800" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the nervous system."; ; ; "COHD:444200", "NCIT:C3268"; "neoplasm of nervous system", "neoplasm of the nervous system", "nervous system neoplasm (disease)", "nervous system neoplasms", "nervous system tumor", "nervous system tumour", "tumor of nervous system", "tumor of the nervous system"; "MONDO:0021248"; rdfs:label "nervous system neoplasm" . _:4d92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the nervous system."; "MONDO:patterns/location" . _:4d93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:444200"; "MONDO:equivalentTo" . _:4d95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3268"; "MONDO:equivalentTo" . _:4d97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of nervous system"; "MONDO:patterns/neoplasm", "NCIT:C3268" . _:4d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the nervous system"; "NCIT:C3268" . _:4d99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system neoplasm (disease)"; "MONDO:patterns/location" . _:4d9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system neoplasms"; "NCIT:C3268" . _:4d9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system tumor"; "MONDO:patterns/neoplasm", "NCIT:C3268" . _:4d9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system tumour"; "NCIT:C3268" . _:4d9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of nervous system"; "MONDO:patterns/neoplasm", "NCIT:C3268" . _:4d9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the nervous system"; "NCIT:C3268" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the prostate gland."; , , , ; , ; "MONDO:0001659"; "DOID:13206", "ICD10:N40", "ICD9:600.1", "NCIT:C3343", "ONCOTREE:PROSTATE"; "neoplasm of prostate", "neoplasm of prostate gland", "neoplasm of the prostate", "prostate gland neoplasm", "prostate gland neoplasm (disease)", "prostate gland tumor", "prostate tumor", "tumor of prostate", "tumor of prostate gland", "tumor of the prostate"; "nodular prostate", "prostate nodule"; "MONDO:0021259"; rdfs:label "prostate neoplasm" . _:4dacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the prostate gland."; "MONDO:patterns/location" . _:4dadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13206"; "MONDO:equivalentTo" . _:4daed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N40"; "DOID:13206" . _:4db0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:600.1"; "DOID:13206" . _:4db2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3343"; "MONDO:equivalentTo" . _:4db4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:PROSTATE"; "MONDO:equivalentTo" . _:4db5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of prostate"; "NCIT:C3343" . _:4db6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of prostate gland"; "MONDO:patterns/neoplasm" . _:4db7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the prostate"; "NCIT:C3343" . _:4dbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate gland neoplasm (disease)"; "MONDO:patterns/location" . _:4dbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate gland tumor"; "MONDO:patterns/neoplasm" . _:4dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate tumor"; "NCIT:C3343" . _:4dc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of prostate"; "NCIT:C3343" . _:4dc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of prostate gland"; "MONDO:patterns/neoplasm" . _:4dc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the prostate"; "NCIT:C3343" . a owl:Class; rdfs:subClassOf , , ; "A cancer that involves the eyelid."; , ; "ICD9:173.1", "NCIT:C6786", "SCTID:231829006"; "cancer of eyelid", "eyelid cancer", "malignant eyelid neoplasm", "malignant eyelid tumor", "malignant neoplasm of eyelid", "malignant neoplasm of the eyelid", "malignant tumor of eyelid", "malignant tumor of the eyelid"; "MONDO:0021313"; rdfs:label "eyelid cancer" . _:4dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cancer that involves the eyelid."; "MONDO:patterns/location" . _:4dcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:173.1"; "MONDO:relatedTo", "i2s" . _:4dd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C6786"; "MONDO:equivalentTo" . _:4dd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:231829006"; "MONDO:equivalentTo" . _:4dd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of eyelid"; "MONDO:patterns/cancer" . _:4dd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid cancer"; "MONDO:patterns/location" . _:4dd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant eyelid neoplasm"; "MONDO:patterns/cancer", "NCIT:C6786" . _:4dd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant eyelid tumor"; "NCIT:C6786" . _:4dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of eyelid"; "MONDO:patterns/cancer", "NCIT:C6786" . _:4ddad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the eyelid"; "NCIT:C6786" . _:4ddcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of eyelid"; "NCIT:C6786" . _:4dddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the eyelid"; "NCIT:C6786" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the thoracic segment of trunk."; , , ; "ICD9:239.89", "NCIT:C3406", "SCTID:255058005", "UMLS:C0039981"; "neoplasm of the thorax", "neoplasm of thoracic segment of trunk", "thoracic neoplasm", "thoracic segment of trunk neoplasm", "thoracic segment of trunk neoplasm (disease)", "thoracic segment of trunk tumor", "thoracic tumor", "tumor of the thorax", "tumor of thoracic segment of trunk", "tumor of thorax"; "MONDO:0021350"; rdfs:label "neoplasm of thorax" . _:4de7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the thoracic segment of trunk."; "MONDO:patterns/location" . _:4de9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.89"; "MONDO:relatedTo", "i2s" . _:4dead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3406"; "MONDO:equivalentTo" . _:4debd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:255058005"; "MONDO:equivalentTo" . _:4decd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039981"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3406" . _:4deed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the thorax"; "NCIT:C3406" . _:4df1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of thoracic segment of trunk"; "MONDO:patterns/neoplasm" . _:4df4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic neoplasm"; "NCIT:C3406" . _:4df5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic segment of trunk neoplasm (disease)"; "MONDO:patterns/location" . _:4df6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic segment of trunk tumor"; "MONDO:patterns/neoplasm" . _:4df8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic tumor"; "NCIT:C3406" . _:4df9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the thorax"; "NCIT:C3406" . _:4dfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of thoracic segment of trunk"; "MONDO:patterns/neoplasm" . _:4dfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of thorax"; "NCIT:C3406" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the parathyroid gland."; ; , ; "ICD9:239.7", "NCIT:C3313", "SCTID:127020005"; "neoplasm of parathyroid", "neoplasm of parathyroid gland", "neoplasm of the parathyroid", "neoplasm of the parathyroid gland", "parathyroid gland neoplasm", "parathyroid gland neoplasm (disease)", "parathyroid gland tumor", "parathyroid neoplasm", "parathyroid tumor", "tumor of parathyroid", "tumor of parathyroid gland", "tumor of the parathyroid", "tumor of the parathyroid gland"; "parathyroid gland neoplasm"; "MONDO:0021360"; rdfs:label "tumor of parathyroid gland" . _:4e04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the parathyroid gland."; "MONDO:patterns/location" . _:4e05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.7"; "MONDO:relatedTo", "i2s" . _:4e06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3313"; "MONDO:equivalentTo" . _:4e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:127020005"; "MONDO:equivalentTo" . _:4e11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of parathyroid"; "NCIT:C3313" . _:4e12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of parathyroid gland"; "MONDO:patterns/neoplasm" . _:4e13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the parathyroid"; "NCIT:C3313" . _:4e16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the parathyroid gland"; "NCIT:C3313" . _:4e18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland neoplasm"; "NCIT:C3313" . _:4e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland neoplasm (disease)"; "MONDO:patterns/location" . _:4e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland tumor"; "MONDO:patterns/neoplasm", "NCIT:C3313" . _:4e1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid neoplasm"; "NCIT:C3313" . _:4e1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid tumor"; "NCIT:C3313" . _:4e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of parathyroid"; "NCIT:C3313" . _:4e22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of parathyroid gland"; "MONDO:patterns/neoplasm" . _:4e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the parathyroid"; "NCIT:C3313" . _:4e26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the parathyroid gland"; "NCIT:C3313" . _:4e28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland neoplasm"; "NCIT:C3313" . a owl:Class; rdfs:subClassOf , ; "A benign neoplasm that involves the zone of skin."; , , ; "ICD9:216.8", "ICD9:216.9", "NCIT:C2896", "SCTID:92384009", "UMLS:C0004998"; "benign cutaneous neoplasm", "benign cutaneous tumor", "benign neoplasm of the skin", "benign skin neoplasm", "benign skin tumor", "benign tumor of skin", "benign tumor of the skin", "skin neoplasms, benign", "zone of skin benign neoplasm"; "MONDO:0021440"; rdfs:label "benign neoplasm of skin" . _:4e45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign neoplasm that involves the zone of skin."; "MONDO:patterns/location" . _:4e47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:216.8"; "MONDO:relatedTo", "i2s" . _:4e48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:216.9"; "MONDO:equivalentTo", "i2s" . _:4e4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2896"; "MONDO:equivalentTo" . _:4e4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:92384009"; "MONDO:equivalentTo" . _:4e4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004998"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C2896" . _:4e53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign cutaneous neoplasm"; "NCIT:C2896" . _:4e54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign cutaneous tumor"; "NCIT:C2896" . _:4e55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neoplasm of the skin"; "NCIT:C2896" . _:4e56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign skin neoplasm"; "NCIT:C2896" . _:4e57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign skin tumor"; "NCIT:C2896" . _:4e58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor of skin"; "NCIT:C2896" . _:4e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor of the skin"; "NCIT:C2896" . _:4e5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin neoplasms, benign"; "NCIT:C2896" . _:4e5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin benign neoplasm"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "A benign neoplasm that involves the eye."; , , ; "ICD9:224.0", "ICD9:224.8", "ICD9:224.9", "NCIT:C4780", "SCTID:92097004", "UMLS:C0496897"; "benign eye neoplasm", "benign eye tumor", "benign neoplasm of the eye", "benign ocular neoplasm", "benign ocular tumor", "benign tumor of eye", "benign tumor of the eye", "eye benign neoplasm"; "MONDO:0021454"; rdfs:label "benign neoplasm of eye" . _:4e6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign neoplasm that involves the eye."; "MONDO:patterns/location" . _:4e6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:224.0"; "MONDO:relatedTo", "i2s" . _:4e6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:224.8"; "MONDO:relatedTo", "i2s" . _:4e70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:224.9"; "MONDO:equivalentTo", "i2s" . _:4e71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4780"; "MONDO:equivalentTo" . _:4e75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:92097004"; "MONDO:equivalentTo" . _:4e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0496897"; "MONDO:equivalentTo", "NCIT:C4780" . _:4e7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign eye neoplasm"; "NCIT:C4780" . _:4e7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign eye tumor"; "NCIT:C4780" . _:4e80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neoplasm of the eye"; "NCIT:C4780" . _:4e83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign ocular neoplasm"; "NCIT:C4780" . _:4e85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign ocular tumor"; "NCIT:C4780" . _:4e87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor of eye"; "NCIT:C4780" . _:4e89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor of the eye"; "NCIT:C4780" . _:4e8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye benign neoplasm"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue."; , , ; "ICD9:239.2", "MESH:D009372", "SCTID:126598008", "UMLS:C0027656"; "connective tissue neoplasm", "connective tissue neoplasm (disease)", "connective tissue tumor", "neoplasm of connective tissue", "neoplasm of connective tissues", "tumor of connective tissue", "tumour of connective tissue"; "connective tissue neoplasms", "neoplasm, connective tissue"; "MONDO:0021581"; rdfs:label "connective tissue neoplasm" . _:4e8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue."; "MESH:D009372" . _:4e91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.2"; "MONDO:relatedTo", "i2s" . _:4e92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009372"; "MONDO:equivalentTo" . _:4e93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126598008"; "MONDO:equivalentTo" . _:4e94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027656"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue neoplasm"; "MESH:D009372" . _:4e97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue neoplasm (disease)"; "MONDO:patterns/location" . _:4e98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue tumor"; "MONDO:patterns/neoplasm" . _:4e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of connective tissue"; "MONDO:patterns/neoplasm" . _:4e9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of connective tissues"; "DOID:201" . _:4ea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of connective tissue"; "MONDO:patterns/neoplasm" . _:4ea3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumour of connective tissue"; "MONDO:DesignPattern" . _:4ea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue neoplasms"; "MESH:D009372" . _:4ea5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm, connective tissue"; "MESH:D009372" . a owl:Class; rdfs:subClassOf ; "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy."; ; , ; "NCIT:C3159", "SCTID:402624000"; "lentiginosis", "lentigo"; "MONDO:0021582"; rdfs:comment "Editor note: NCIT classifies as non-neoplastic, check this"; rdfs:label "lentigo" . _:4ea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy."; "NCIT:C3159" . _:4ea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3159"; "MONDO:equivalentTo" . _:4eaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:402624000"; "MONDO:equivalentTo" . _:4eacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lentiginosis"; "NCIT:C3159" . _:4eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lentigo"; "NCIT:C3159" . a owl:Class; rdfs:subClassOf , ; "A melanocytic neoplasm that involves the zone of skin."; , ; "NCIT:C7161", "UMLS:C0349501"; "cutaneous melanocytic neoplasm", "melanocytic neoplasm of skin", "melanocytic neoplasm of zone of skin", "melanocytic skin neoplasm", "zone of skin melanocytic neoplasm"; "MONDO:0021583"; rdfs:label "melanocytic skin neoplasm" . _:4eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A melanocytic neoplasm that involves the zone of skin."; "MONDO:patterns/location" . _:4eb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7161"; "MONDO:equivalentTo" . _:4eb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0349501"; "MONDO:equivalentTo", "NCIT:C7161" . _:4eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous melanocytic neoplasm"; "NCIT:C7161" . _:4eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanocytic neoplasm of skin"; "NCIT:C7161" . _:4eb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanocytic neoplasm of zone of skin"; "MONDO:design_pattern" . _:4eb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanocytic skin neoplasm"; "NCIT:C7161" . _:4ebad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin melanocytic neoplasm"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , , ; "A non-metastasizing neoplasm that arises from the upper or lower eyelid."; , , ; "NCIT:C4354", "SCTID:231824001", "UMLS:C0339107"; "benign eyelid neoplasm", "benign eyelid tumor", "benign neoplasm of eyelid", "benign neoplasm of the eyelid", "benign tumor of eyelid", "benign tumor of the eyelid", "eyelid benign neoplasm"; "MONDO:0021605"; rdfs:label "benign eyelid neoplasm" . _:4ebdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-metastasizing neoplasm that arises from the upper or lower eyelid."; "NCIT:C4354" . _:4ebfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4354"; "MONDO:equivalentTo" . _:4ec1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:231824001"; "MONDO:equivalentTo" . _:4ec4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339107"; "MONDO:equivalentTo", "NCIT:C4354" . _:4ec5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign eyelid neoplasm"; "NCIT:C4354" . _:4ec6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign eyelid tumor"; "NCIT:C4354" . _:4ec8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neoplasm of eyelid"; "NCIT:C4354" . _:4ecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neoplasm of the eyelid"; "NCIT:C4354" . _:4eccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor of eyelid"; "NCIT:C4354" . _:4eced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor of the eyelid"; "NCIT:C4354" . _:4ed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid benign neoplasm"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "A epithelial neoplasm that involves the zone of skin."; , ; "NCIT:C7342", "UMLS:C0345976"; "epithelial skin neoplasm", "epithelial skin tumor", "skin epithelium neoplasm", "skin epithelium tumor", "zone of skin epithelial neoplasm"; "MONDO:0021634"; rdfs:label "epithelial skin neoplasm" . _:4ed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A epithelial neoplasm that involves the zone of skin."; "MONDO:patterns/location" . _:4ed5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7342"; "MONDO:equivalentTo" . _:4ed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345976"; "MONDO:equivalentTo", "NCIT:C7342" . _:4ed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial skin neoplasm"; "NCIT:C7342" . _:4ed8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial skin tumor"; "NCIT:C7342" . _:4ed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin epithelium neoplasm"; "NCIT:C7342" . _:4edad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin epithelium tumor"; "NCIT:C7342" . _:4edbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin epithelial neoplasm"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."; "disorder of neural crest cell development", "disorder of neural crest development", "neural crest cell development disease"; "disorder of neural crest cell development"; "MONDO:0021635"; rdfs:label "neurocristopathy" . _:4ee1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."; "MONDO:cjm", "https://en.wikipedia.org/wiki/Neurocristopathy" . _:4ee3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of neural crest cell development"; "MONDO:patterns/basis_in_disruption_of_process" . _:4ee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of neural crest development"; "MONDO:cjm" . _:4ee6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of neural crest cell development"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma."; , ; "NCIT:C132067", "UMLS:C1997217"; "low grade glioma", "low-grade glioma"; "MONDO:0021637"; rdfs:label "low grade glioma" . _:4ee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma."; "NCIT:C132067" . _:4ee8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C132067"; "MONDO:equivalentTo" . _:4eead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1997217"; "MONDO:equivalentTo", "NCIT:C132067" . _:4eedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "low grade glioma"; "NCIT:C132067" . _:4eeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "low-grade glioma"; "NCIT:C132067" . a owl:Class; rdfs:subClassOf ; , ; "NCIT:C45481", "UMLS:C0002959"; "vascular ectasia"; "MONDO:0021658"; rdfs:label "vascular ectasia" . _:4ef2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C45481"; "MONDO:equivalentTo" . _:4ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002959"; "MONDO:equivalentTo", "NCIT:C45481" . _:4ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular ectasia"; "NCIT:C45481" . a owl:Class; rdfs:subClassOf , ; "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear."; , , , ; "MESH:D006311", "NCIT:C3078", "SCTID:128540005", "UMLS:C0260662"; "hearing disorder"; "auditory alteration", "disorder of hearing"; "MONDO:0021945"; rdfs:label "hearing disorder" . _:4ef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear."; "NCIT:C3078" . _:4efbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006311"; "MONDO:equivalentTo" . _:4efdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3078"; "MONDO:equivalentTo" . _:4effd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128540005"; "MONDO:equivalentTo" . _:4f00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0260662"; "MONDO:equivalentTo", "NCIT:C3078" . _:4f02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hearing disorder"; "NCIT:C3078" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:156162"; "MONDO:0022409"; ; rdfs:label "nephropathy-associated ciliopathy" . _:4f03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:156162"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , , ; ; "Orphanet:156165"; "MONDO:0022410"; ; rdfs:label "retinal ciliopathy" . _:4f05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:156165"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders."; , , , , , , , ; , , , ; "DOID:1443", "GARD:0006019", "ICD9:331.9", "NCIT:C84624", "SCTID:95646004", "UMLS:C0262404"; "Brain degeneration", "cerebellar Degeneration", "cerebellar degeneration", "cerebellum neurodegenerative disease", "neurodegenerative disease of cerebellum"; "cerebral degeneration"; "MONDO:0022687"; ; rdfs:label "cerebellar degeneration"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration"^^xsd:anyURI . _:4f08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders."; "NCIT:C84624" . _:4f09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1443"; "MONDO:equivalentTo" . _:4f0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006019"; "MONDO:equivalentTo" . _:4f0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:331.9"; "DOID:1443", "MONDO:directSiblingOf" . _:4f0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84624"; "MONDO:equivalentTo" . _:4f0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95646004"; "MONDO:equivalentTo" . _:4f10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0262404"; "GARD:0006019", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C84624" . _:4f12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brain degeneration"; "DOID:1443" . _:4f14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar Degeneration"; "NCIT:C84624" . _:4f16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellum neurodegenerative disease"; "MONDO:patterns/location" . _:4f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurodegenerative disease of cerebellum"; "MONDO:design_pattern" . _:4f1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral degeneration"; "DOID:1443" . _:4f1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration"^^xsd:anyURI; "GARD:0006019" . a owl:Class; rdfs:subClassOf ; "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene."; , ; "GARD:0002501", "HGNC:4061", "MESH:C536831", "UMLS:C2931345"; "G6P translocase deficiency", "SLC37A4 glycogen storage disease I", "glucose-6-phosphate translocase deficiency", "glycogen storage disease I caused by mutation in SLC37A4"; "MONDO:0023258"; ; rdfs:comment "This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i"; rdfs:label "glycogen storage disease type 1 due to SLC37A4 mutation"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency"^^xsd:anyURI . _:4f23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene."; "MONDO:patterns/disease_series_by_gene" . _:4f24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002501"; "MONDO:equivalentTo" . _:4f26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGNC:4061"; "GARD:0002501" . _:4f27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536831"; "MONDO:equivalentTo" . _:4f28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931345"; "GARD:0002501", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4f29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G6P translocase deficiency"; "GARD:0002501" . _:4f2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLC37A4 glycogen storage disease I"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:4f2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucose-6-phosphate translocase deficiency"; "GARD:0002501" . _:4f2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease I caused by mutation in SLC37A4"; "MONDO:design_pattern" . _:4f2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency"^^xsd:anyURI; "GARD:0002501" . a owl:Class; rdfs:subClassOf ; "Either an isolated neoplasm or a syndrome with neoplasm as a major feature."; "neoplastic disease", "neoplastic disorder"; "MONDO:0023370"; rdfs:label "neoplastic disease or syndrome" . _:4f30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Either an isolated neoplasm or a syndrome with neoplasm as a major feature."; "MONDO:cjm" . a owl:Class; rdfs:subClassOf , ; "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."; , , ; "NCIT:C97075", "SCTID:363045008", "UMLS:C0410787"; "connective tissue hereditary disorder", "hereditary connective tissue disorder"; "Connective tissue hereditary disorder", "Hereditary Connective Tissue Disorder", "Inherited disorder of connective tissue", "inherited disorder of connective tissue"; "MONDO:0023603"; rdfs:label "hereditary connective tissue disorder" . _:4f31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."; "NCIT:C97075" . _:4f32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97075"; "MONDO:equivalentTo", "UMLS:C0410787" . _:4f39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363045008"; "MONDO:equivalentTo", "UMLS:C0410787" . _:4f3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0410787"; "MONDO:equivalentTo" . _:4f3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue hereditary disorder"; "NCIT:C97075" . _:4f3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary connective tissue disorder"; "NCIT:C97075" . _:4f3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Connective tissue hereditary disorder"; "UMLS:C0410787" . _:4f3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary Connective Tissue Disorder"; "NCIT:C97075" . _:4f40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inherited disorder of connective tissue"; "UMLS:C0410787" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by the progressive loss of function and/or structure of the affected tissues."; , , ; "ICD9:796.4", "NCIT:C27090", "SCTID:362975008", "UMLS:C1285162"; "degenerative disease", "degenerative disorder"; "MONDO:0024236"; rdfs:label "degenerative disorder" . _:4f44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by the progressive loss of function and/or structure of the affected tissues."; "NCIT:C27090" . _:4f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:796.4"; "MONDO:relatedTo", "i2s" . _:4f48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27090"; "MONDO:equivalentTo" . _:4f49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:362975008"; "MONDO:equivalentTo" . _:4f4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1285162"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C27090" . _:4f4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "degenerative disease"; "NCIT:C27090" . _:4f4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "degenerative disorder"; "NCIT:C27090" . a owl:Class; rdfs:subClassOf , ; "A disease that has its basis in the disruption of cardiovascular system development."; , ; "ICD9:747.89", "ICD9:747.9", "NCIT:C35729", "SCTID:9904008"; "cardiovascular system development disease", "congenital Abnormality of the circulatory system", "congenital anomaly of cardiovascular system", "congenital cardiovascular Abnormality", "congenital cardiovascular anomaly", "disorder of cardiovascular system development"; "congenital cardiovascular disorder", "disorder of cardiovascular system development"; "MONDO:0024239"; rdfs:label "congenital anomaly of cardiovascular system" . _:4f4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of cardiovascular system development."; "MONDO:patterns/basis_in_disruption_of_process" . _:4f61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:747.89"; "MONDO:relatedTo", "i2s" . _:4f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:747.9"; "MONDO:equivalentTo", "i2s" . _:4f69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35729"; "MONDO:equivalentTo" . _:4f6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:9904008"; "MONDO:equivalentTo" . _:4f6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular system development disease"; "MONDO:design_pattern" . _:4f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital Abnormality of the circulatory system"; "NCIT:C35729" . _:4f70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital cardiovascular Abnormality"; "NCIT:C35729" . _:4f71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital cardiovascular anomaly"; "NCIT:C35729" . _:4f72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cardiovascular system development"; "MONDO:patterns/basis_in_disruption_of_process" . _:4f74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cardiovascular system development"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf , ; "An instance of skin disease that is caused by a modification of the individual's genome."; , ; "MESH:D012873", "SCTID:239001006"; "genetic skin disease", "genodermatosis"; "disease, genetic skin", "diseases, genetic skin", "genetic skin diseases", "skin disease, genetic"; "MONDO:0024255"; rdfs:label "genetic skin disease" . _:4f78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of skin disease that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:4f7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012873"; "MONDO:equivalentTo" . _:4f7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:239001006"; "MONDO:equivalentTo" . _:4f7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic skin disease"; "MESH:D012873", "MONDO:patterns/genetic" . _:4f7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, genetic skin"; "MESH:D012873" . _:4f80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, genetic skin"; "MESH:D012873" . _:4f82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic skin diseases"; "MESH:D012873" . _:4f83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin disease, genetic"; "MESH:D012873" . a owl:Class; rdfs:subClassOf ; , ; "HP:0031493", "NCIT:C7132", "UMLS:C1333820"; "glandular cell epithelial neoplasm", "glandular cell epithelium neoplasm", "glandular cell neoplasm", "glandular cell tumor"; "MONDO:0024276"; rdfs:label "glandular cell neoplasm" . _:4f85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0031493"; "MONDO:otherHierarchy" . _:4f86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7132"; "MONDO:equivalentTo" . _:4f87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1333820"; "MONDO:equivalentTo", "NCIT:C7132" . _:4f88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glandular cell epithelial neoplasm"; "NCIT:C7132" . _:4f89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glandular cell epithelium neoplasm"; "NCIT:C7132" . _:4f8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glandular cell neoplasm"; "NCIT:C7132" . _:4f8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glandular cell tumor"; "MONDO:cjm" . a owl:Class; rdfs:subClassOf ; "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells."; ; ; "NCIT:C7388"; "neoplasm of vascular system", "neoplasm of vascular tissue", "neoplasms, vascular", "tumor of vascular system", "tumor of vascular tissue", "tumors, vascular", "vascular neoplasm", "vascular neoplasms", "vascular system neoplasm", "vascular system neoplasm (disease)", "vascular system tumor", "vascular tissue neoplasm", "vascular tissue tumor", "vascular tumor", "vascular tumors"; "vascular tumor, NOS"; "MONDO:0024296"; rdfs:label "vascular neoplasm" . _:4f8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells."; "NCIT:C7388" . _:4f90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7388"; "MONDO:equivalentTo" . _:4f91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of vascular system"; "MONDO:patterns/neoplasm" . _:4f94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of vascular tissue"; "NCIT:C7388" . _:4f95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasms, vascular"; "NCIT:C7388" . _:4f97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of vascular system"; "MONDO:patterns/neoplasm" . _:4f9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of vascular tissue"; "NCIT:C7388" . _:4f9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumors, vascular"; "NCIT:C7388" . _:4f9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular neoplasm"; "NCIT:C7388" . _:4fa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular neoplasms"; "NCIT:C7388" . _:4fa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular system neoplasm (disease)"; "MONDO:patterns/location" . _:4fa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular system tumor"; "MONDO:patterns/neoplasm" . _:4fa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular tissue neoplasm"; "NCIT:C7388" . _:4fa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular tissue tumor"; "NCIT:C7388" . _:4fa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular tumor"; "NCIT:C7388" . _:4fabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular tumors"; "NCIT:C7388" . _:4fadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular tumor, NOS"; "NCIT:C7388"; . a owl:Class; rdfs:subClassOf ; "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances."; , ; "ICD10:E00.E90", "MESH:D009750", "UMLS:C0028715"; "MONDO:0024297"; rdfs:comment "Editor note: consider expanding to include endocrine"; rdfs:label "nutritional or metabolic disease" . _:4fb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances."; "MESH:D009750" . _:4fb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E00.E90"; "MONDO:equivalentTo" . _:4fb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009750"; "MONDO:equivalentTo" . _:4fb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0028715"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency."; , , , , ; "EFO:0005878", "ICD9:269.1", "ICD9:269.2", "MESH:D001361", "NCIT:C35772", "SCTID:85670002", "UMLS:C0376286", "UMLS:C1510471"; "Vitamin deficiency", "Vitamin deficiency disorder", "avitaminosis"; "Avitaminoses", "Vitamin deficiencies", "deficiencies, Vitamin", "deficiency, Vitamin"; "MONDO:0024298"; rdfs:label "vitamin deficiency disorder" . _:4fbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency."; "NCIT:C35772" . _:4fbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0005878"; "MONDO:equivalentTo" . _:4fc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:269.1"; "MONDO:relatedTo", "i2s" . _:4fc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:269.2"; "MONDO:equivalentTo", "i2s" . _:4fc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001361"; "MONDO:equivalentTo" . _:4fc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35772"; "MONDO:equivalentTo" . _:4fc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:85670002"; "MONDO:equivalentTo" . _:4fcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0376286"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:4fcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1510471"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C35772" . _:4fccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin deficiency"; "MESH:D001361", "NCIT:C35772" . _:4fced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin deficiency disorder"; "NCIT:C35772" . _:4fd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "avitaminosis"; "NCIT:C35772" . _:4fd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Avitaminoses"; "MESH:D001361" . _:4fd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin deficiencies"; "MESH:D001361" . _:4fd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiencies, Vitamin"; "MESH:D001361" . _:4fd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency, Vitamin"; "MESH:D001361" . a owl:Class; rdfs:subClassOf , ; , ; "SCTID:68295002", "UMLS:C0221468"; "VDDR"; "MONDO:0024299"; rdfs:label "vitamin D-dependent rickets" . _:4fd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:68295002"; "MONDO:equivalentTo" . _:4fd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221468"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; ; "ICD9:757.39", "SCTID:252246005"; "pseudoxanthoma elasticum"; "MONDO:0024308"; rdfs:label "pseudoxanthoma elasticum (inherited or acquired)" . _:4fddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:4fded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:252246005"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; , , ; "ICD10:A80.A89", "MESH:D020805", "SCTID:302810003", "UMLS:C0348165"; "viral infection of central nervous system"; "central nervous system viral infection", "viral disease of central nervous system"; "MONDO:0024318"; rdfs:label "viral infection of central nervous system" . _:4fe3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:A80.A89"; "MONDO:equivalentTo" . _:4fe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020805"; "MONDO:equivalentTo" . _:4fe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:302810003"; "MONDO:equivalentTo" . _:4fe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0348165"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of GPI anchor biosynthetic process."; "GPI anchor biosynthetic process disease", "GPIBD", "disorder of GPI anchor biosynthetic process", "glycosylphosphatidylinositol biosynthesis defect"; "MONDO:0024321"; rdfs:comment "May be inborn or somatic"; rdfs:label "disorder of GPI anchor biosynthesis" . _:4fead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of GPI anchor biosynthetic process."; "MONDO:patterns/basis_in_disruption_of_process" . _:4fecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of GPI anchor biosynthetic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of glycosylation."; "disorder of glycosylation", "glycosylation disease"; "MONDO:0024322"; rdfs:comment "May be inborn or somatic"; rdfs:label "disorder of glycosylation" . _:4fefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of glycosylation."; "MONDO:patterns/basis_in_disruption_of_process" . _:4ff0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycosylation"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:4ff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycosylation disease"; "MONDO:design_pattern" . a owl:Class; rdfs:subClassOf ; "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma."; , ; "NCIT:C7061", "UMLS:C1335765"; "retinal cell neoplasm", "retinal cell tumor", "retinal neural cell neoplasm"; "MONDO:0024341"; rdfs:label "retinal cell neoplasm" . _:4ff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7061"; "MONDO:equivalentTo" . _:4ff5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1335765"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C7061" . _:4ff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal cell neoplasm"; "NCIT:C7061" . _:4ff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal cell tumor"; "NCIT:C7061" . _:4ffad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal neural cell neoplasm"; "NCIT:C7061" . a owl:Class; rdfs:subClassOf ; "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body."; ; "MESH:D010468"; "MONDO:0024417"; rdfs:label "perceptual disorders" . _:4ffcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body."; "MESH:D010468" . _:4ffdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010468"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; ; "SCTID:80006005"; "disorder of bilirubin metabolism"; "MONDO:0024431"; rdfs:label "bilirubin metabolism disease" . _:5001d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:80006005"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A disease that involves the visual system."; ; "SCTID:128127008"; "disease of visual system", "disease or disorder of visual system", "disorder of visual system", "visual system disease", "visual system disease or disorder", "visual system disorder"; "disorder of visual system"; "MONDO:0024458"; rdfs:label "disease of visual system" . _:500ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the visual system."; "MONDO:patterns/location" . _:500bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128127008"; "MONDO:equivalentTo" . _:500dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of visual system"; "MONDO:patterns/location_top" . _:500fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of visual system"; "MONDO:patterns/location_top" . _:5010d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visual system disease"; "MONDO:patterns/location" . _:5012d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visual system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:5014d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of visual system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease that involves the cutaneous appendage."; , ; "SCTID:238714008", "UMLS:C0037272"; "cutaneous appendage disease", "cutaneous appendage disease or disorder", "disease of cutaneous appendage", "disease or disorder of cutaneous appendage", "disorder of cutaneous appendage", "disorder of skin appendage"; "disease of epidermal appendage", "disease of epidermal appendages", "disorder of cutaneous appendage"; "MONDO:0024481"; rdfs:label "skin appendage disease" . _:5016d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the cutaneous appendage."; "MONDO:patterns/location" . _:5017d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238714008"; "MONDO:equivalentTo" . _:5018d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037272"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:501ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous appendage disease"; "MONDO:patterns/location" . _:501cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous appendage disease or disorder"; "MONDO:patterns/location" . _:501dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of cutaneous appendage"; "MONDO:patterns/location_top" . _:501ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cutaneous appendage"; "MONDO:patterns/location_top" . _:501fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cutaneous appendage"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A broad grouping of diseases based on major body subdivisions."; , ; "SCTID:123946008", "UMLS:C1290853"; "disease by body site", "disease of organism subdivision", "disorder by body site", "disorder of anatomical", "disorder of organism subdivision"; "MONDO:0024505"; ; rdfs:label "disorder by anatomical region" . _:5023d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A broad grouping of diseases based on major body subdivisions."; "MONDO:cjm" . _:502fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:123946008"; "MONDO:equivalentTo" . _:5030d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290853"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:5031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of organism subdivision"; "MONDO:patterns/location_top" . _:5032d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of organism subdivision"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."; , , , ; "DOID:0080326", "GARD:0007229", "MESH:D024741", "NCIT:C84773", "OMIMPS:192600", "SCTID:471885006"; "cardiomyopathy, familial hypertrophic", "familial hypertrophic cardiomyopathy", "hereditary hypertrophic cardiomyopathy", "hypertrophic familial cardiomyopathy"; "MONDO:0024573"; rdfs:label "familial hypertrophic cardiomyopathy" . _:5036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."; "NCIT:C84773" . _:503ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080326"; "MONDO:equivalentTo" . _:503bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007229"; "MONDO:equivalentTo" . _:503cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D024741"; "MONDO:equivalentTo" . _:503dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84773"; "MONDO:equivalentTo" . _:5040d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:192600"; "MONDO:equivalentTo" . _:5042d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:471885006"; "MONDO:equivalentTo" . _:5043d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, familial hypertrophic"; "OMIMPS:192600" . _:5044d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypertrophic cardiomyopathy"; "NCIT:C84773" . _:5046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hypertrophic cardiomyopathy"; "MONDO:patterns/hereditary" . _:5047d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertrophic familial cardiomyopathy"; "NCIT:C84773" . a owl:Class; rdfs:subClassOf ; "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding."; , , ; "COHD:434316", "ICD10:D68.0", "ICD9:286.4", "MESH:D014842", "NCIT:C68677", "SCTID:128105004"; "VWD", "von Willebrand disorder", "von Willebrand's disease"; "von Willebrand disease"; "MONDO:0024574"; rdfs:label "von Willebrand disease (hereditary or acquired)" . _:504ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding."; "NCIT:C68677" . _:504cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434316"; "MONDO:equivalentTo" . _:504dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.0"; "MONDO:equivalentTo" . _:504ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286.4"; "MONDO:equivalentTo", "i2s" . _:5050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014842"; "MONDO:equivalentTo" . _:5052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C68677"; "MONDO:equivalentTo" . _:5053d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128105004"; "MONDO:equivalentTo" . _:5054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand disorder"; "NCIT:C68677" . _:5055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand's disease"; "NCIT:C68677" . a owl:Class; rdfs:subClassOf , ; "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma."; ; , ; "ICD9:239.5", "NCIT:C3054", "SCTID:126895004"; "Male reproductive system neoplasm", "Male reproductive system tumor", "male reproductive organ neoplasm", "male reproductive organ tumor", "neoplasm of Male reproductive system", "neoplasm of male reproductive organ", "neoplasm of the Male reproductive system", "tumor of Male reproductive system", "tumor of male reproductive organ", "tumor of the Male reproductive system"; "MONDO:0024582"; rdfs:label "male reproductive system neoplasm" . _:5057d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma."; "NCIT:C3054" . _:5059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.5"; "MONDO:relatedTo", "i2s" . _:505bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3054"; "MONDO:equivalentTo" . _:505dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126895004"; "MONDO:equivalentTo" . _:505fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male reproductive system neoplasm"; "NCIT:C3054" . _:5060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male reproductive system tumor"; "NCIT:C3054" . _:5061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive organ tumor"; "MONDO:patterns/neoplasm" . _:5062d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of Male reproductive system"; "NCIT:C3054" . _:5063d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of male reproductive organ"; "MONDO:patterns/neoplasm" . _:5065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the Male reproductive system"; "NCIT:C3054" . _:5066d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of Male reproductive system"; "NCIT:C3054" . _:5067d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of male reproductive organ"; "MONDO:patterns/neoplasm" . _:5068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the Male reproductive system"; "NCIT:C3054" . a owl:Class; rdfs:subClassOf , ; "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation)."; ; ; "NCIT:C27380"; "thyroid adenocarcinoma", "thyroid gland adenocarcinoma"; "MONDO:0024622"; rdfs:label "thyroid gland adenocarcinoma" . _:506bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation)."; "NCIT:C27380" . _:506cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27380"; "MONDO:equivalentTo" . _:506dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid adenocarcinoma"; "NCIT:C27380" . _:5076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland adenocarcinoma"; "NCIT:C27380" . a owl:Class; rdfs:subClassOf ; "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases."; , , , , ; "ICD9:478.19", "MESH:D010038", "NCIT:C118420", "SCTID:232208008", "UMLS:C0029896", "UMLS:C0395797"; "ear, nose and throat disorder", "ear, nose or throat disorder", "otolaryngologic disorder", "otorhinolaryngologic disease"; "ENT disease", "ENT diseases", "disease, ENT", "disease, otolaryngologic", "disease, otolaryngological", "disease, otorhinolaryngologic", "disease, otorhinolaryngological", "diseases, ENT", "diseases, otolaryngologic", "diseases, otolaryngological", "diseases, otorhinolaryngologic", "diseases, otorhinolaryngological", "otolaryngologic disease", "otolaryngologic diseases", "otolaryngological disease", "otolaryngological diseases", "otorhinolaryngological disease", "otorhinolaryngological diseases"; "MONDO:0024623"; rdfs:comment "Editor note: consider uberon class"; rdfs:label "otorhinolaryngologic disease" . _:507ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases."; "MESH:D010038" . _:507bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:478.19"; "MONDO:relatedTo", "i2s" . _:507dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010038"; "MONDO:equivalentTo" . _:507fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C118420"; "MONDO:equivalentTo" . _:5081d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:232208008"; "MONDO:equivalentTo" . _:5083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029896"; "MEDGEN:kboom-pr98-c98", "MONDO:equivalentTo" . _:5084d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0395797"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:5085d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otolaryngologic disorder"; "NCIT:C118420" . _:5086d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otorhinolaryngologic disease"; "MESH:D010038" . _:5088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENT disease"; "MESH:D010038" . _:5089d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENT diseases"; "MESH:D010038" . _:508bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, ENT"; "MESH:D010038" . _:508cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, otolaryngologic"; "MESH:D010038" . _:508dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, otolaryngological"; "MESH:D010038" . _:508ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, otorhinolaryngologic"; "MESH:D010038" . _:508fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, otorhinolaryngological"; "MESH:D010038" . _:5090d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, ENT"; "MESH:D010038" . _:5091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, otolaryngologic"; "MESH:D010038" . _:5093d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, otolaryngological"; "MESH:D010038" . _:5094d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, otorhinolaryngologic"; "MESH:D010038" . _:5096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, otorhinolaryngological"; "MESH:D010038" . _:5097d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otolaryngologic disease"; "MESH:D010038" . _:5099d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otolaryngologic diseases"; "MESH:D010038" . _:509bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otolaryngological disease"; "MESH:D010038" . _:509dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otolaryngological diseases"; "MESH:D010038" . _:509ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otorhinolaryngological disease"; "MESH:D010038" . _:50a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otorhinolaryngological diseases"; "MESH:D010038" . a owl:Class; rdfs:subClassOf , ; , ; "SCTID:234585008", "UMLS:C0398742"; "defective phagocytic cell killing"; "MONDO:0024626"; rdfs:label "defective phagocytic cell engulfment" . _:50a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234585008"; "MONDO:equivalentTo" . _:50a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398742"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; , ; "SCTID:302874002", "UMLS:C0398732"; "defective phagocytosis", "phagocytic cell dysfunction"; "MONDO:0024627"; rdfs:label "phagocytic cell dysfunction" . _:50a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:302874002"; "MONDO:equivalentTo" . _:50a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398732"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A disease that involves the large intestine."; , ; "SCTID:119523007", "UMLS:C0341321"; "disease of large intestine", "disease or disorder of large intestine", "disorder of large intestine", "large intestine disease or disorder"; "disorder of large intestine"; "MONDO:0024634"; rdfs:label "large intestine disease" . _:50abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the large intestine."; "MONDO:patterns/location" . _:50acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:119523007"; "MONDO:equivalentTo" . _:50aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0341321"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:50b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of large intestine"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:50b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of large intestine"; "MONDO:patterns/location_top" . _:50b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "large intestine disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:50b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of large intestine"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease that involves the small intestine."; , ; "SCTID:119522002", "UMLS:C0341268"; "disease of small intestine", "disease or disorder of small intestine", "disorder of small intestine", "small intestine disease or disorder"; "disorder of small intestine"; "MONDO:0024635"; rdfs:label "small intestine disease" . _:50bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the small intestine."; "MONDO:patterns/location" . _:50bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:119522002"; "MONDO:equivalentTo" . _:50bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0341268"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:50c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of small intestine"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:50c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of small intestine"; "MONDO:patterns/location_top" . _:50c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small intestine disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:50c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of small intestine"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the retroperitoneum."; ; ; "NCIT:C3357"; "neoplasm of retroperitoneal space", "retroperitoneal neoplasm", "retroperitoneal space neoplasm", "retroperitoneal space tumor", "tumor of retroperitoneal space"; "MONDO:0024645"; rdfs:label "retroperitoneal neoplasm" . _:50c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that affects the retroperitoneum."; "NCIT:C3357" . _:50c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3357"; "MONDO:equivalentTo" . _:50cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of retroperitoneal space"; "MONDO:patterns/neoplasm" . _:50cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal neoplasm"; "NCIT:C3357" . _:50ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal space tumor"; "MONDO:patterns/neoplasm" . _:50cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of retroperitoneal space"; "MONDO:patterns/neoplasm" . a owl:Class; rdfs:subClassOf , ; "A hypertensive disorder that develops during pregnancy."; ; , , ; "MONDO:0024581"; "MESH:D046110", "NCIT:C9243", "SCTID:48194001"; "hypertension associated disorders of pregnancy", "hypertension-associated pregnancy disorder", "pregnancy-induced hypertension"; "gestational hypertension", "hypertension complicating pregnancy", "hypertension induced by pregnancy", "hypertension, gestational", "hypertension, pregnancy induced", "hypertension, pregnancy transient", "hypertensions, pregnancy induced", "induced Hypertensions, pregnancy", "induced hypertension, pregnancy", "pregnancy induced hypertension", "pregnancy transient hypertension", "transient hypertension, pregnancy"; "MONDO:0024664"; rdfs:label "hypertension, pregnancy-induced" . _:50d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hypertensive disorder that develops during pregnancy."; "NCIT:C9243" . _:50d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D046110"; "MONDO:equivalentTo" . _:50d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9243"; "MONDO:equivalentTo" . _:50dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:48194001"; "MONDO:equivalentTo" . _:50dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertension associated disorders of pregnancy"; "NCIT:C9243" . _:50ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertension-associated pregnancy disorder"; "NCIT:C9243" . _:50dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pregnancy-induced hypertension"; "MESH:D046110" . _:50e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gestational hypertension"; "MESH:D046110" . _:50e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertension, gestational"; "MESH:D046110" . _:50e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertension, pregnancy induced"; "MESH:D046110" . _:50e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertension, pregnancy transient"; "MESH:D046110" . _:50e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertensions, pregnancy induced"; "MESH:D046110" . _:50e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "induced Hypertensions, pregnancy"; "MESH:D046110" . _:50e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "induced hypertension, pregnancy"; "MESH:D046110" . _:50e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pregnancy induced hypertension"; "MESH:D046110" . _:50e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pregnancy transient hypertension"; "MESH:D046110" . _:50edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transient hypertension, pregnancy"; "MESH:D046110" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q56", "ICD9:752.7", "SCTID:268229003"; "gynandrism"; "MONDO:0024665"; rdfs:label "indeterminate sex and/or pseudohermaphroditism" . _:50efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56"; "MONDO:equivalentTo" . _:50f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:752.7"; "MONDO:equivalentTo", "i2s" . _:50f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:268229003"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma."; , ; "NCIT:C4784", "SCTID:721573003"; "cardiovascular neoplasm", "cardiovascular system neoplasm", "cardiovascular system tumor", "cardiovascular tumor", "neoplasm of cardiovascular system", "tumor of cardiovascular system"; "MONDO:0024757"; rdfs:label "cardiovascular neoplasm" . _:50f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma."; "NCIT:C4784" . _:50f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4784"; "MONDO:equivalentTo" . _:50fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721573003"; "MONDO:equivalentTo" . _:50ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular neoplasm"; "NCIT:C4784" . _:5101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular system tumor"; "MONDO:patterns/neoplasm" . _:5102d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular tumor"; "NCIT:C4784" . _:5103d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of cardiovascular system"; "MONDO:patterns/neoplasm" . _:5105d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of cardiovascular system"; "MONDO:patterns/neoplasm" . a owl:Class; rdfs:subClassOf , ; "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome."; , ; "Orphanet:271847", "UMLS:CN202530"; "hereditary neuroendocrine neoplasm"; "genetic neuroendocrine tumor"; "MONDO:0025511"; ; rdfs:label "inherited neuroendocrine tumor" . _:5109d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:510bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:271847"; "MONDO:equivalentTo" . _:510dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202530"; "MONDO:equivalentTo" . _:510ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary neuroendocrine neoplasm"; "MONDO:patterns/hereditary" . _:510fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic neuroendocrine tumor"; "Orphanet:271847" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:439849"; "MONDO:0028226"; ; rdfs:label "autosomal recessive severe congenital neutropenia" . _:5113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:439849"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)"; ; ; "NCIT:C2858"; "adrenal cortex neoplasm", "adrenal cortex tumor", "adrenocortical neoplasm", "adrenocortical tumor", "neoplasm of adrenal cortex", "tumor of adrenal cortex"; "MONDO:0036591"; rdfs:label "adrenal cortex neoplasm" . _:5115d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)"; "NCIT:C2858" . _:5116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2858"; "MONDO:equivalentTo" . _:5117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal cortex neoplasm"; "NCIT:C2858" . _:5118d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal cortex tumor"; "MONDO:patterns/neoplasm", "NCIT:C2858" . _:511ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenocortical neoplasm"; "NCIT:C2858" . _:511bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenocortical tumor"; "NCIT:C2858" . _:511cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of adrenal cortex"; "MONDO:patterns/neoplasm" . _:511ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of adrenal cortex"; "MONDO:patterns/neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of carbohydrate metabolic process."; ; "SCTID:20957000"; "carbohydrate metabolic process disease", "disorder of carbohydrate metabolic process", "disorder of carbohydrate metabolism"; "disorder of carbohydrate metabolic process"; "MONDO:0037792"; rdfs:label "carbohydrate metabolism disease" . _:5120d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of carbohydrate metabolic process."; "MONDO:patterns/basis_in_disruption_of_process" . _:5121d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:20957000"; "MONDO:equivalentTo" . _:5127d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carbohydrate metabolic process disease"; "MONDO:design_pattern" . _:5128d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of carbohydrate metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:512ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of carbohydrate metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process."; ; "SCTID:29094004"; "disorder of porphyrin metabolism", "disorder of porphyrin-containing compound metabolic process", "porphyrin-containing compound metabolic process disease"; "disorder of porphyrin and heme metabolism", "disorder of porphyrin-containing compound metabolic process"; "MONDO:0037821"; rdfs:label "porphyrin metabolism disease" . _:512bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process."; "MONDO:patterns/basis_in_disruption_of_process" . _:512cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:29094004"; "MONDO:equivalentTo" . _:512dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of porphyrin-containing compound metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:512ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyrin-containing compound metabolic process disease"; "MONDO:design_pattern" . _:512fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of porphyrin-containing compound metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of purine nucleobase metabolic process."; , ; "SCTID:32612005", "UMLS:C0268104"; "disorder of purine metabolism", "disorder of purine nucleobase metabolic process", "purine nucleobase metabolic process disease"; "disorder of purine nucleobase metabolic process"; "MONDO:0037829"; rdfs:label "purine metabolism disease" . _:5131d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of purine nucleobase metabolic process."; "MONDO:patterns/basis_in_disruption_of_process" . _:5133d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:32612005"; "MONDO:equivalentTo" . _:5135d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268104"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:5137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of purine nucleobase metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:5139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "purine nucleobase metabolic process disease"; "MONDO:design_pattern" . _:513ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of purine nucleobase metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf , ; "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources."; , ; "NCIT:C117115", "SCTID:39929009"; "disorder of fatty acid metabolism", "fatty acid metabolism disorder"; "disorder of fat oxidation", "disorders of fatty-acid metabolism"; "MONDO:0037858"; rdfs:label "inherited fatty acid metabolism disorder" . _:513ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources."; "NCIT:C117115" . _:513fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C117115"; "MONDO:equivalentTo" . _:5141d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:39929009"; "MONDO:equivalentTo" . _:5143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fatty acid metabolism disorder"; "NCIT:C117115" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of cellular amino acid metabolic process."; , ; "NCIT:C97090", "SCTID:44779003"; "amino acid metabolism disorder", "cellular amino acid metabolic process disease", "disorder of amino acid metabolism", "disorder of cellular amino acid metabolic process"; "amino acid disorder", "amino acidopathy", "disorder of cellular amino acid metabolic process"; "MONDO:0037871"; rdfs:label "amino acid metabolism disease" . _:5148d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of cellular amino acid metabolic process."; "MONDO:patterns/basis_in_disruption_of_process" . _:5149d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97090"; "MONDO:equivalentTo" . _:514bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:44779003"; "MONDO:equivalentTo" . _:514dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amino acid metabolism disorder"; "NCIT:C97090" . _:514fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cellular amino acid metabolic process disease"; "MONDO:design_pattern" . _:5151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cellular amino acid metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:5153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cellular amino acid metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process."; "inborn aspartate family amino acid metabolic process disorder", "inborn error of aspartate family amino acid metabolic process", "rare inborn error of aspartate family amino acid metabolic process"; "rare inborn error of aspartate family amino acid metabolic process"; "MONDO:0037938"; rdfs:label "inborn disorder of aspartate family metabolism" . _:5154d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process."; "MONDO:patterns/inborn_metabolic" . _:5155d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of aspartate family amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:5156d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of aspartate family amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:5157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of aspartate family amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . a owl:Class; rdfs:subClassOf , ; "An instance of auditory system disease that is caused by an inherited modification of the individual's genome."; , ; "SCTID:362991006", "UMLS:C1285174"; "auditory system hereditary disorder", "hereditary auditory system disease"; "MONDO:0037940"; rdfs:label "inherited auditory system disease" . _:5159d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of auditory system disease that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:515bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:362991006"; "MONDO:equivalentTo" . _:515cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1285174"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:515dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary auditory system disease"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf ; , ; "HP:0001941", "SCTID:26436007", "UMLS:C0268029"; "disorder of acid-base balance"; "disturbance of acid-base balance"; "MONDO:0041261"; rdfs:label "disorder of acid-base balance" . _:515fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001941"; "MONDO:otherHierarchy" . _:5161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:26436007"; "MONDO:equivalentTo" . _:5163d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268029"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf ; "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases."; ; "MESH:D004198"; "diatheses", "diathesis", "disease susceptibilities", "susceptibilities, disease", "susceptibility, disease"; "MONDO:0042489"; ; rdfs:label "disease susceptibility" . _:5166d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases."; "MESH:D004198" . _:5168d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004198"; "MONDO:equivalentTo" . _:5169d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diatheses"; "MESH:D004198" . _:516bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diathesis"; "MESH:D004198" . _:516cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease susceptibilities"; "MESH:D004198" . _:516dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "susceptibilities, disease"; "MESH:D004198" . _:516fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "susceptibility, disease"; "MESH:D004198" . a owl:Class; rdfs:subClassOf , ; "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome."; "GARD:0004174"; "hereditary osteosclerosis"; "MONDO:0042973"; ; rdfs:label "familial osteosclerosis" . _:5172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:5173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004174"; "MONDO:equivalentTo" . _:5175d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary osteosclerosis"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf ; "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat."; , , , ; "MESH:D014804", "NCIT:C35129", "SCTID:47903000", "UMLS:C0042850"; "Vitamin B deficiencies", "deficiencies, Vitamin B", "deficiency, Vitamin B"; "MONDO:0042976"; rdfs:label "vitamin B deficiency" . _:5177d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat."; "MESH:D014804" . _:5178d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014804"; "MONDO:equivalentTo" . _:5179d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35129"; "MONDO:equivalentTo" . _:517bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:47903000"; "MONDO:equivalentTo" . _:517dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042850"; "MONDO:equivalentTo" . _:517fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin B deficiencies"; "MESH:D014804" . _:5180d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiencies, Vitamin B"; "MESH:D014804" . _:5182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency, Vitamin B"; "MESH:D014804" . a owl:Class; rdfs:subClassOf ; "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])."; ; "GARD:0013373", "NCIT:C126349"; "GATA2 deficiency"; "GATA2 deficiency/MonoMac syndrome"; "MONDO:0042982"; , ; rdfs:comment "The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity"; rdfs:label "GATA2 deficiency with susceptibility to MDS/AML" . _:5185d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])."; "PMID:25397911", "PMID:25619630", "PMID:25624456", "PMID:28637621", "github:justyneross", "https://github.com/monarch-initiative/mondo/issues/261" . _:5186d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013373"; "MONDO:equivalentTo" . _:5187d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126349"; "MONDO:equivalentTo" . _:5189d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GATA2 deficiency"; "GARD:0013373", "NCIT:C126349" . _:518bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GATA2 deficiency/MonoMac syndrome"; "NCIT:C126349" . a owl:Class; rdfs:subClassOf ; "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs."; , , , ; ; "MESH:D020752", "NCIT:C84348", "SCTID:78572006", "UMLS:C0265316"; "neurocutaneous syndrome"; "Phacomatoses", "Phacomatosis", "Phakomatoses", "neurocutaneous disorder", "neurocutaneous disorders", "neuroectodermal dysplasia", "neuroectodermal dysplasia syndrome", "neuroectodermal dysplasia syndromes", "phakomatosis", "syndrome, neurocutaneous", "syndrome, neuroectodermal dysplasia", "syndromes, neurocutaneous", "syndromes, neuroectodermal dysplasia"; "MONDO:0042983"; rdfs:comment "A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category"; rdfs:label "neurocutaneous syndrome" . _:5190d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs."; "MESH:D020752" . _:5191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MESH:D020752" . _:5192d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020752"; "MONDO:equivalentTo" . _:5193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84348"; "MONDO:equivalentTo" . _:5194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:78572006"; "MONDO:equivalentTo" . _:5196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265316"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:5198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurocutaneous syndrome"; "MESH:D020752" . _:519ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phacomatoses"; "MESH:D020752" . _:519bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phacomatosis"; "MESH:D020752" . _:519dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phakomatoses"; "MESH:D020752" . _:519ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurocutaneous disorder"; "MESH:D020752" . _:519fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurocutaneous disorders"; "MESH:D020752" . _:51a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroectodermal dysplasia syndrome"; "MESH:D020752" . _:51a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroectodermal dysplasia syndromes"; "MESH:D020752" . _:51a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phakomatosis"; "MESH:D020752" . _:51a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, neurocutaneous"; "MESH:D020752" . _:51abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, neuroectodermal dysplasia"; "MESH:D020752" . _:51add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, neurocutaneous"; "MESH:D020752" . _:51afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, neuroectodermal dysplasia"; "MESH:D020752" . a owl:Class; rdfs:subClassOf ; "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome."; , , ; "MESH:C531598", "OMIM:100600", "UMLS:C2930792"; "hereditary acanthosis nigricans (disease)"; "acanthosis nigricans"; "MONDO:0043003"; rdfs:label "familial acanthosis nigricans" . _:51b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:51b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C531598"; "MONDO:equivalentTo" . _:51b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:100600"; "DOID:3138", "MONDO:equivalentTo" . _:51bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2930792"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:51bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary acanthosis nigricans (disease)"; "MONDO:patterns/hereditary" . _:51bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acanthosis nigricans"; "OMIM:100600" . a owl:Class; rdfs:subClassOf , , , ; "An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome."; ; "Orphanet:330197"; "genetic MCA/variable MR", "genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome", "hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"; "MONDO:0043007"; ; rdfs:label "genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" . _:51c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:51c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:330197"; "MONDO:equivalentTo" . _:51c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic MCA/variable MR"; "Orphanet:330197" . _:51c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"; "Orphanet:330197" . _:51c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf , ; "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome."; ; "Orphanet:471383"; "hereditary lethal multiple congenital anomalies/dysmorphic syndrome"; "MONDO:0043009"; ; rdfs:label "genetic lethal multiple congenital anomalies/dysmorphic syndrome" . _:51cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:51cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:471383"; "MONDO:equivalentTo" . _:51ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary lethal multiple congenital anomalies/dysmorphic syndrome"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf ; "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin."; , , , ; ; "GARD:0005768", "ICD10:E70.3", "MESH:D000417", "NCIT:C84543", "SCTID:15890002", "UMLS:C0001916"; "albinism"; "MONDO:0043209"; ; rdfs:comment "This groups multiple types, including those restricted to the eyes, the skin or both"; rdfs:label "albinism" . _:51d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin."; "NCIT:C84543-modified" . _:51d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MESH:D000417" . _:51d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005768"; "MONDO:equivalentTo" . _:51d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.3"; "MONDO:equivalentTo" . _:51d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000417"; "MONDO:equivalentTo" . _:51d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84543"; "MONDO:equivalentTo" . _:51d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15890002"; "MONDO:equivalentTo" . _:51ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001916"; "GARD:0005768", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C84543" . _:51dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "albinism"; "NCIT:C84543" . a owl:Class; rdfs:subClassOf , ; "A disorder of the nervous system related to a vascular etiology."; , ; "NCIT:C117007", "UMLS:C3898144"; "disease of nervous system vasculature", "nervous system disorder of vasculature", "neurovascular disorder", "vasculature nervous system disorder"; "MONDO:0043218"; rdfs:label "neurovascular disease" . _:51e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder of the nervous system related to a vascular etiology."; "NCIT:C117007" . _:51e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C117007"; "MONDO:equivalentTo" . _:51e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3898144"; "MEDGEN:kboom-pr95-c98", "MONDO:equivalentTo", "NCIT:C117007" . _:51e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system disorder of vasculature"; "MONDO:design_pattern" . _:51e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurovascular disorder"; "NCIT:C117007" . _:51e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vasculature nervous system disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of complement activation, lectin pathway."; "OMIMPS:614372"; "complement activation, lectin pathway disease", "disorder of complement activation, lectin pathway"; "disorder of complement activation, lectin pathway"; "MONDO:0044209"; rdfs:label "disorder of lectin complement activation pathway" . _:51ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of complement activation, lectin pathway."; "MONDO:patterns/basis_in_disruption_of_process" . _:51eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:614372"; "MONDO:equivalentTo" . _:51f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of complement activation, lectin pathway"; "MONDO:patterns/basis_in_disruption_of_process" . _:51f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of complement activation, lectin pathway"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue."; ; ; "NCIT:C3810"; "connective and soft tissue neoplasm", "connective and soft tissue tumor", "musculoskeletal and soft tissue neoplasm", "musculoskeletal and soft tissue tumor", "neoplasm of skeletal and soft tissue", "neoplasm of soft tissue and bone", "neoplasm of soft tissue and skeleton", "skeletal and soft tissue neoplasm", "skeletal and soft tissue tumor", "soft tissue and bone neoplasm", "soft tissue and bone tumor", "tumor of skeletal and soft tissue", "tumor of soft tissue and bone", "tumor of soft tissue and skeleton"; "MONDO:0044334"; rdfs:comment "Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone"; rdfs:label "connective and soft tissue neoplasm" . _:51f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue."; "NCIT:C3810" . _:51f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3810"; "MONDO:equivalentTo" . _:51f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective and soft tissue neoplasm"; "NCIT:C3810" . _:51f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective and soft tissue tumor"; "NCIT:C3810" . _:51f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal and soft tissue neoplasm"; "NCIT:C3810" . _:51f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal and soft tissue tumor"; "NCIT:C3810" . _:51f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of skeletal and soft tissue"; "NCIT:C3810" . _:51fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of soft tissue and bone"; "NCIT:C3810" . _:51fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of soft tissue and skeleton"; "NCIT:C3810" . _:5202d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal and soft tissue neoplasm"; "NCIT:C3810" . _:5203d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal and soft tissue tumor"; "NCIT:C3810" . _:5204d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "soft tissue and bone neoplasm"; "NCIT:C3810" . _:5205d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "soft tissue and bone tumor"; "NCIT:C3810" . _:5206d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of skeletal and soft tissue"; "NCIT:C3810" . _:5207d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of soft tissue and bone"; "NCIT:C3810" . _:5209d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of soft tissue and skeleton"; "NCIT:C3810" . a owl:Class; rdfs:subClassOf , ; "A disease or disorder that involves the erythrocyte."; , ; "ICD9:289.9", "SCTID:38292009", "UMLS:C0221016"; "disease of erythrocyte", "disease or disorder of erythrocyte", "disorder of erythrocyte", "erythrocyte disease", "erythrocyte disease or disorder", "red blood cell disease", "red blood cell disorder"; "disorder of erythrocyte"; "MONDO:0044347"; rdfs:label "erythrocyte disease" . _:520ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the erythrocyte."; "MONDO:patterns/location" . _:5210d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:289.9"; "linkedlifedata" . _:5212d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:38292009"; "MONDO:equivalentTo" . _:5213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221016"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:5217d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of erythrocyte"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:5218d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of erythrocyte"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:5219d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erythrocyte disease"; "MONDO:design_pattern" . _:521ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erythrocyte disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:521bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of erythrocyte"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids."; , , ; "GTR:AN0096391", "GTR:AN0096395", "GTR:AN0200342", "GTR:AN0255485", "NCIT:C122798", "SCTID:236381000", "UMLS:CN034406"; "nephrotic syndrome of childhood - steroid resistant", "nephrotic syndrome-steroid-resistant", "steroid-resistant nephrotic syndrome"; "nephrotic syndrome, idiopathic, steroid-resistant", "nephrotic syndrome, steroid-resistant, autosomal recessive"; "NPHS2", "SRNS - steroid-resistant nephrotic syndrome", "steroid-unresponsive nephrotic syndrome"; "MONDO:0044765"; rdfs:label "steroid-resistant nephrotic syndrome" . _:5222d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids."; "NCIT:C122798" . _:5224d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0096391"; "UMLS:CN034406" . _:5227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0096395"; "UMLS:CN034406" . _:522bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0200342"; "UMLS:CN034406" . _:522cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0255485"; "UMLS:CN034406" . _:522dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122798"; "MONDO:equivalentTo" . _:522ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:236381000"; "MONDO:equivalentTo" . _:5230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN034406"; "MONDO:equivalentTo" . _:5231d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome of childhood - steroid resistant"; "NCIT:C122798" . _:5233d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome-steroid-resistant"; "NCIT:C122798" . _:5235d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "steroid-resistant nephrotic syndrome"; "GTR:AN0255485" . _:5238d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome, idiopathic, steroid-resistant"; "GTR:AN0096391" . _:5239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome, steroid-resistant, autosomal recessive"; "GTR:AN0096395" . _:523ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPHS2"; "GTR:AN0200342" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the abdominal segment of trunk."; , ; "SCTID:609618002", "UMLS:C3661988"; "abdominal segment of trunk disease", "abdominal segment of trunk disease or disorder", "disease of abdominal segment of trunk", "disease or disorder of abdominal segment of trunk", "disorder of abdominal segment of trunk"; "disorder of abdominal segment of trunk"; "MONDO:0044965"; rdfs:label "abdominal and pelvic region disorder" . _:523bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the abdominal segment of trunk."; "MONDO:design_pattern" . _:523cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:609618002"; "MONDO:equivalentTo" . _:523dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3661988"; "MONDO:equivalentTo" . _:523ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "abdominal segment of trunk disease"; "MONDO:design_pattern" . _:523fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "abdominal segment of trunk disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:5240d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of abdominal segment of trunk"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:5242d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of abdominal segment of trunk"; "MONDO:patterns/location_top" . _:5243d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of abdominal segment of trunk"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the limb."; , ; "ICD9:V49.1", "SCTID:128605003", "UMLS:C1290877"; "disease of limb", "disease or disorder of limb", "disorder of extremity", "disorder of limb", "limb disease", "limb disease or disorder"; "disorder of limb"; "MONDO:0044967"; rdfs:label "limb disorder" . _:524ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the limb."; "MONDO:design_pattern" . _:524dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128605003"; "MONDO:equivalentTo" . _:524fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290877"; "MONDO:equivalentTo" . _:5251d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of limb"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:5253d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of limb"; "MONDO:patterns/location_top" . _:5256d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb disease"; "MONDO:design_pattern" . _:5257d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:5258d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of limb"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "MONDO:0044969"; rdfs:label "disease of membrane bound organelle" . a owl:Class; rdfs:subClassOf ; "MONDO:0044971"; rdfs:label "disease of macromolecular complex" . a owl:Class; rdfs:subClassOf ; "MONDO:0044974"; rdfs:label "disease of supramolecular complex" . a owl:Class; rdfs:subClassOf ; "MONDO:0044975"; rdfs:label "disease of transporter activity" . a owl:Class; rdfs:subClassOf ; , ; "SCTID:78548001", "UMLS:C0520572"; "enzyme disorder", "enzymopathy"; "MONDO:0044976"; rdfs:label "disease of catalytic activity" . _:525dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:78548001"; "MONDO:equivalentTo" . _:525ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0520572"; "MONDO:equivalentTo" . a owl:Class; rdfs:subClassOf , ; "MONDO:0044977"; rdfs:label "disease of receptor activity" . a owl:Class; rdfs:subClassOf ; "MONDO:0044979"; ; rdfs:label "disease by cell type" . a owl:Class; rdfs:subClassOf ; "MONDO:0044980"; rdfs:label "disease of signal transduction" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the lymphoid system."; ; "SCTID:111590001"; "disease of lymphoid system", "disease or disorder of lymphoid system", "disorder of lymphoid system", "lymphoid system disease", "lymphoid system disease or disorder"; "disorder of lymphoid system"; "MONDO:0044986"; rdfs:label "lymphoid system disease" . _:5260d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the lymphoid system."; "MONDO:patterns/location" . _:5262d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:111590001"; "MONDO:equivalentTo" . _:5264d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of lymphoid system"; "MONDO:patterns/location_top" . _:5267d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lymphoid system"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:5268d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoid system disease"; "MONDO:design_pattern" . _:526ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoid system disease or disorder"; "MONDO:patterns/location" . _:526dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lymphoid system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the face."; , ; "SCTID:118930001", "UMLS:C1290857"; "disease of face", "disease or disorder of face", "disorder of face", "face disease", "face disease or disorder"; "disorder of face"; "MONDO:0044987"; rdfs:label "face disease" . _:528ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the face."; "MONDO:patterns/location" . _:528bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:118930001"; "MONDO:equivalentTo" . _:528cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290857"; "MONDO:equivalentTo" . _:528dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of face"; "MONDO:patterns/location_top" . _:528ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of face"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:5291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "face disease"; "MONDO:design_pattern" . _:5292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "face disease or disorder"; "MONDO:patterns/location" . _:5294d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of face"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the upper digestive tract."; ; "SCTID:119291004"; "disease of upper digestive tract", "disease or disorder of upper digestive tract", "disorder of upper digestive tract", "disorder of upper gastrointestinal tract", "upper digestive tract disease or disorder", "upper gastrointestinal tract disease"; "disorder of upper digestive tract"; "MONDO:0044991"; rdfs:label "upper digestive tract disease" . _:5298d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the upper digestive tract."; "MONDO:patterns/location" . _:5299d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:119291004"; "MONDO:equivalentTo" . _:529bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of upper digestive tract"; "MONDO:patterns/location_top" . _:529cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of upper digestive tract"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:529dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of upper gastrointestinal tract"; "MONDO:design_pattern" . _:529ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "upper digestive tract disease or disorder"; "MONDO:patterns/location" . _:529fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "upper gastrointestinal tract disease"; "MONDO:design_pattern" . _:52a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of upper digestive tract"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the mouth mucosa."; , ; "SCTID:128046007", "UMLS:C1290071"; "disease of mouth mucosa", "disease or disorder of mouth mucosa", "disorder of mouth mucosa", "disorder of oral mucous membrane", "mouth mucosa disease or disorder", "oral mucous membrane disease"; "disorder of mouth mucosa"; "MONDO:0044992"; rdfs:label "mouth mucosa disease" . _:52a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the mouth mucosa."; "MONDO:patterns/location" . _:52a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128046007"; "MONDO:equivalentTo" . _:52a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290071"; "MONDO:equivalentTo" . _:52aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of mouth mucosa"; "MONDO:patterns/location_top" . _:52acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of mouth mucosa"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:52aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of oral mucous membrane"; "MONDO:design_pattern" . _:52afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mouth mucosa disease or disorder"; "MONDO:patterns/location" . _:52b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral mucous membrane disease"; "MONDO:design_pattern" . _:52b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of mouth mucosa"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the scalp."; , ; "SCTID:238922006", "UMLS:C0406629"; "disease of scalp", "disease or disorder of scalp", "disorder of scalp", "scalp disease", "scalp disease or disorder"; "disorder of scalp"; "MONDO:0044999"; rdfs:label "scalp disease" . _:52b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the scalp."; "MONDO:patterns/location" . _:52b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238922006"; "MONDO:equivalentTo" . _:52b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0406629"; "MONDO:equivalentTo" . _:52bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of scalp"; "MONDO:patterns/location_top" . _:52bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of scalp"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:52bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "scalp disease"; "MONDO:design_pattern" . _:52bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "scalp disease or disorder"; "MONDO:patterns/location" . _:52c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of scalp"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of cholesterol metabolic process."; , ; "SCTID:123963007", "UMLS:C0342877"; "cholesterol metabolic process disease", "cholesterol metabolism disease", "disorder of cholesterol metabolic process", "disorder of cholesterol metabolism"; "disorder of cholesterol metabolic process"; "MONDO:0045008"; rdfs:comment "Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder)"; rdfs:label "cholesterol metabolism disease" . _:52c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of cholesterol metabolic process."; "MONDO:design_pattern" . _:52c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:123963007"; "MONDO:equivalentTo" . _:52c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342877"; "MONDO:equivalentTo" . _:52c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholesterol metabolic process disease"; "MONDO:design_pattern" . _:52c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholesterol metabolism disease"; "MONDO:design_pattern" . _:52c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cholesterol metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:52cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cholesterol metabolism"; "MONDO:design_pattern" . _:52cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cholesterol metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of glycoprotein metabolic process."; , ; "SCTID:238045003", "UMLS:C0342844"; "disorder of glycoprotein metabolic process", "disorder of glycoprotein metabolism", "glycoprotein metabolic process disease", "glycoprotein metabolism disease"; "disorder of glycoprotein metabolic process"; "MONDO:0045010"; rdfs:comment "Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder)"; rdfs:label "glycoprotein metabolism disease" . _:52d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of glycoprotein metabolic process."; "MONDO:design_pattern" . _:52d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238045003"; "MONDO:equivalentTo" . _:52d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342844"; "MONDO:equivalentTo" . _:52d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycoprotein metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:52d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycoprotein metabolism"; "MONDO:design_pattern" . _:52d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycoprotein metabolic process disease"; "MONDO:design_pattern" . _:52d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycoprotein metabolism disease"; "MONDO:design_pattern" . _:52dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycoprotein metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf , ; , ; "SCTID:277905003", "UMLS:C0475811"; "disorder of keratinization", "keratinization disease"; "MONDO:0045011"; rdfs:label "keratinization disease" . _:52e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:277905003"; "MONDO:equivalentTo" . _:52e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0475811"; "MONDO:equivalentTo" . _:52e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of keratinization"; "MONDO:design_pattern" . _:52e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratinization disease"; "MONDO:design_pattern" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of steroid metabolic process."; , ; "SCTID:28710006", "UMLS:C0268283"; "disorder of steroid metabolic process", "disorder of steroid metabolism", "steroid metabolic process disease", "steroid metabolism disease"; "disorder of steroid metabolic process"; "MONDO:0045012"; rdfs:label "steroid metabolism disease" . _:52e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of steroid metabolic process."; "MONDO:design_pattern" . _:52e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:28710006"; "MONDO:equivalentTo" . _:52ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268283"; "MONDO:equivalentTo" . _:52edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of steroid metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:52eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of steroid metabolism"; "MONDO:design_pattern" . _:52efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "steroid metabolic process disease"; "MONDO:design_pattern" . _:52f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "steroid metabolism disease"; "MONDO:design_pattern" . _:52f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of steroid metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process."; , ; "SCTID:237913008", "UMLS:C0342676"; "disorder of tetrahydrobiopterin metabolic process", "disorder of tetrahydrobiopterin metabolism", "tetrahydrobiopterin metabolism disease"; "disorder of tetrahydrobiopterin metabolic process"; "MONDO:0045014"; rdfs:label "tetrahydrobiopterin metabolic process disease" . _:52f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process."; "MONDO:design_pattern" . _:52f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237913008"; "MONDO:equivalentTo" . _:52fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342676"; "MONDO:equivalentTo" . _:52fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of tetrahydrobiopterin metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:52fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of tetrahydrobiopterin metabolism"; "MONDO:design_pattern" . _:52ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tetrahydrobiopterin metabolism disease"; "MONDO:design_pattern" . _:5300d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of tetrahydrobiopterin metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf , ; "A disease that has its basis in the disruption of cholesterol biosynthetic process."; , ; "SCTID:238036004", "UMLS:C0342829"; "cholesterol synthesis disease", "disorder of cholesterol biosynthetic process", "disorder of cholesterol synthesis"; "disorder of cholesterol biosynthetic process"; "MONDO:0045017"; rdfs:label "cholesterol biosynthetic process disease" . _:5305d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of cholesterol biosynthetic process."; "MONDO:design_pattern" . _:5306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238036004"; "MONDO:equivalentTo" . _:5308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342829"; "MONDO:equivalentTo" . _:5309d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholesterol synthesis disease"; "MONDO:design_pattern" . _:530ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cholesterol biosynthetic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:530cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cholesterol synthesis"; "MONDO:design_pattern" . _:530ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cholesterol biosynthetic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of glycine metabolic process."; , ; "SCTID:83076007", "UMLS:C0268558"; "disorder of glycine metabolic process", "disorder of glycine metabolism", "glycine metabolic process disease", "glycine metabolism disease"; "disorder of glycine metabolic process"; "MONDO:0045020"; rdfs:label "glycine metabolism disease" . _:5311d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of glycine metabolic process."; "MONDO:design_pattern" . _:5312d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:83076007"; "MONDO:equivalentTo" . _:5314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268558"; "MONDO:equivalentTo" . _:5317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycine metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:5318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycine metabolism"; "MONDO:design_pattern" . _:5319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycine metabolic process disease"; "MONDO:design_pattern" . _:531bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycine metabolism disease"; "MONDO:design_pattern" . _:531dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycine metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of organic acid metabolic process."; ; "ICD9:277.89", "SCTID:116021002"; "disorder of organic acid metabolic process", "disorder of organic acid metabolism", "organic acid metabolic process disease", "organic acid metabolism disorder"; "disorder of organic acid metabolic process"; "MONDO:0045022"; rdfs:label "disorder of organic acid metabolism" . _:531fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of organic acid metabolic process."; "MONDO:design_pattern" . _:5320d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.89"; "linkedlifedata" . _:5321d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:116021002"; "MONDO:equivalentTo" . _:5322d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of organic acid metabolic process"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:5323d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "organic acid metabolic process disease"; "MONDO:design_pattern" . _:5324d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of organic acid metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions."; "MONDO:0045024"; rdfs:label "cell proliferation disorder" . _:5327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions."; "MONDO:cjm" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process."; , ; "ICD9:246.8", "SCTID:36985004", "UMLS:C0271824"; "inborn error of thyroid hormone metabolic process", "inborn thyroid hormone metabolic process disorder", "inherited disorder of thyroid metabolism", "rare inborn error of thyroid hormone metabolic process"; "rare inborn error of thyroid hormone metabolic process"; "MONDO:0045046"; rdfs:label "inherited thyroid metabolism disease" . _:5329d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process."; "MONDO:patterns/inborn_metabolic" . _:532ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:36985004"; "MONDO:equivalentTo" . _:532bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271824"; "MONDO:equivalentTo" . _:532cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of thyroid hormone metabolic process"; "MONDO:patterns/inborn_metabolic" . _:532dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of thyroid hormone metabolic process"; "MONDO:patterns/inborn_metabolic" . _:532ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of thyroid hormone metabolic process"; "MONDO:patterns/inborn_metabolic" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of sulfur compound metabolic process."; , ; "SCTID:123809005", "UMLS:C1263724"; "disorder of sulfur compound metabolic process", "disorder of sulfur metabolic process", "disorder of sulfur metabolism", "disorder of sulphur metabolism", "sulfur compound metabolic process disease"; "MONDO:0056803"; rdfs:label "sulfur metabolism disease" . _:532fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of sulfur compound metabolic process."; "MONDO:patterns/disrupts_process" . _:5330d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:123809005"; "MONDO:equivalentTo" . _:5332d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1263724"; "MONDO:equivalentTo" . _:5333d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sulfur compound metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; ; "2018-05-25T20:53:07Z"^^xsd:dateTime; "A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.", "DYT-KMT2B", "early-onset, generalized dystonia with mild syndromic features"; "early-onset generalized isolated dystonia"; "MONDO:0100016"; rdfs:label "early-onset generalized dystonia" . _:5338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population."; "PMID:27839873", "PMID:27992417", "https://www.ncbi.nlm.nih.gov/books/NBK1155/" . _:533ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT-KMT2B"; "https://www.ncbi.nlm.nih.gov/books/NBK1155/" . _:533bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset, generalized dystonia with mild syndromic features"; "https://www.ncbi.nlm.nih.gov/books/NBK1155/" . a owl:Class; rdfs:subClassOf ; "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life."; ; "2018-06-22T23:34:03Z"^^xsd:dateTime; "http://orcid.org/0000-0001-8486-0558"; "MONDO:0100022"; rdfs:label "neonatal/infantile epilepsy syndrome" . a owl:Class; rdfs:subClassOf ; "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy."; ; "2018-06-23T18:55:00Z"^^xsd:dateTime; "MONDO:0100033"; rdfs:label "metabolic epilepsy" . _:533dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy."; "http://orcid.org/0000-0001-8486-0558", "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html" . a owl:Class; rdfs:subClassOf ; "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."; ; ; "2018-06-29T18:21:11Z"^^xsd:dateTime; "MONDO:0100038"; rdfs:label "complex neurodevelopmental disorder" . _:533ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."; "https://orcid.org/0000-0002-6733-369X", "https://www.clinicalgenome.org/working-groups/clinical-domain/pediatric-neurology-clinical-domain-working-group/" . _:533fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://orcid.org/0000-0002-6733-369X" . a owl:Class; rdfs:subClassOf , ; "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)."; ; "2018-11-09T23:43:34Z"^^xsd:dateTime; "TH deficiency", "tyrosine 3-monooxygenase deficiency", "tyrosine Hydroxylase deficiency"; "MONDO:0100064"; rdfs:label "tyrosine hydroxylase deficiency" . _:5340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)."; "PMID:20301610", "https://orcid.org/0000-0002-5655-9589" . _:5342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TH deficiency"; "https://orcid.org/0000-0002-5655-9589" . _:5344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tyrosine 3-monooxygenase deficiency"; "https://orcid.org/0000-0002-5655-9589" . _:5346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tyrosine Hydroxylase deficiency"; "OMIM:605407" . a owl:Class; rdfs:subClassOf , ; "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli."; ; "2018-12-17T22:24:52Z"^^xsd:dateTime; "neuroendocrine system disease"; "MONDO:0100070"; rdfs:label "neuroendocrine disease" . _:5348d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli."; "UBERON:0010133" . a owl:Class; rdfs:subClassOf ; "A person that is associated with another person in some manner or action."; "C100128"; "Human"; "Partner"; "C3887537"; "Partner"; rdfs:label "Partner" . _:534bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person that is associated with another person in some manner or action."; "NCI" . _:534cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Partner"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf , ; "A biological parent of the biological father or biological mother."; "C100806"; "Human"; "Biological Grandparent"; "C0337472"; "CDISC"; "A biological parent of the biological father or biological mother."; "Natural Grandparent"; "Biological Grandparent", "GRANDPARENT, BIOLOGICAL"; , , ; rdfs:label "Biological Grandparent" . _:5350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biological parent of the biological father or biological mother."; "NCI" . _:5352d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biological parent of the biological father or biological mother."; "CDISC" . _:5354d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Grandparent"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5355d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Grandparent"; "PT"; "NCI" . _:5356d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Grandparent"; "SY"; "CDISC" . _:5357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDPARENT, BIOLOGICAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf ; "Any individual related biologically or legally to another individual and considered two degrees removed from the immediate family as in the case of cousins."; "C100808"; "Human"; "Third Degree Relative"; "C3639750"; "CDISC"; "Any individual related biologically or legally to another individual and considered two degrees removed from the immediate family as in the case of cousins."; "RELATIVE, THIRD DEGREE", "Third Degree Relative"; , , ; rdfs:label "Third Degree Relative" . _:5358d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any individual related biologically or legally to another individual and considered two degrees removed from the immediate family as in the case of cousins."; "NCI" . _:535ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any individual related biologically or legally to another individual and considered two degrees removed from the immediate family as in the case of cousins."; "CDISC" . _:535dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RELATIVE, THIRD DEGREE"; "PT"; "CDISC" . _:535ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Third Degree Relative"; "PT"; "NCI" . _:5362d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Third Degree Relative"; "SY"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A person's brother or sister with whom they share a genetic makeup inherited from one or both of their shared biological parents."; "C100809"; "Human"; "Biological Sibling"; "C0337502"; "CDISC"; "A person's brother or sister with whom they share a genetic makeup inherited from their shared biological parents."; "Natural Sibling"; "Biological Sibling", "SIBLING, BIOLOGICAL"; , , ; rdfs:label "Biological Sibling" . _:5365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's brother or sister with whom they share a genetic makeup inherited from one or both of their shared biological parents."; "NCI" . _:5367d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's brother or sister with whom they share a genetic makeup inherited from their shared biological parents."; "CDISC" . _:5369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Sibling"; "Has Synonym"; "PT"; "RT"; "GDC" . _:536ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Sibling"; "PT"; "NCI" . _:536bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Sibling"; "SY"; "CDISC" . _:536cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIBLING, BIOLOGICAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf ; "The measurement around a neonate's head at birth."; ; "C101221"; "Quantitative Concept"; "Birth Head Circumference"; "C0419406"; "INC", "NICHD"; "The occipitofrontal circumference of a neonate's head at birth. Measurement to the nearest 0.1 cm should be taken at the broadest part of the forehead above the eyebrow and above the ears, most prominent part of the back of the head on the day of birth or the day after birth."; "Birth Head Circumference"; "Birth Head Circumference", "Head Circumference at Birth", "Head Circumference at Initial Disposition"; , , , ; rdfs:label "Birth Head Circumference" . _:5383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The measurement around a neonate's head at birth."; "NCI" . _:5384d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The occipitofrontal circumference of a neonate's head at birth. Measurement to the nearest 0.1 cm should be taken at the broadest part of the forehead above the eyebrow and above the ears, most prominent part of the back of the head on the day of birth or the day after birth."; "INC" . _:5386d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birth Head Circumference"; "PT"; "NCI" . _:5388d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birth Head Circumference"; "PT"; "NICHD" . _:538bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Head Circumference at Birth"; "PT"; "INC" . _:538ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Head Circumference at Initial Disposition"; "SY"; "NICHD" . a owl:Class; rdfs:subClassOf , ; "A relative who is the biological parent of the biological mother."; "C111248"; "Human"; "Maternal Biological Grandparent"; "C3829175"; "CDISC"; "A relative who is the biological parent of the biological mother."; "Maternal Grandparent"; "GRANDPARENT, BIOLOGICAL MATERNAL", "Maternal Biological Grandparent"; , , ; rdfs:label "Maternal Biological Grandparent" . _:5391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the biological parent of the biological mother."; "NCI" . _:5394d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the biological parent of the biological mother."; "CDISC" . _:5395d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal Grandparent"; "Related To"; "PT"; "RT"; "GDC" . _:5396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDPARENT, BIOLOGICAL MATERNAL"; "PT"; "CDISC" . _:5397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal Biological Grandparent"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf , ; "A relative who is the biological parent of the biological father."; "C111286"; "Human"; "Paternal Biological Grandparent"; "C3828639"; "CDISC"; "A relative who is the biological parent of the biological father."; "Paternal Grandparent"; "GRANDPARENT, BIOLOGICAL PATERNAL", "Paternal Biological Grandparent"; , , ; rdfs:label "Paternal Biological Grandparent" . _:539cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the biological parent of the biological father."; "NCI" . _:539dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the biological parent of the biological father."; "CDISC" . _:53a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Grandparent"; "Related To"; "PT"; "RT"; "GDC" . _:53a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDPARENT, BIOLOGICAL PATERNAL"; "PT"; "CDISC" . _:53a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Biological Grandparent"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Birth at greater than or equal to 37 weeks using best estimated due date."; ; "C114093"; "Finding"; "Term Birth"; "C0233324"; "NICHD"; "Birth at greater than or equal to 37 weeks and less than 42 weeks gestation using best estimated due date."; "Term Birth"; "Term", "Term Birth"; , ; rdfs:label "Term Birth" . _:53a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birth at greater than or equal to 37 weeks using best estimated due date."; "NCI"; "NICHD" . _:53abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birth at greater than or equal to 37 weeks and less than 42 weeks gestation using best estimated due date."; "NICHD" . _:53acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Term"; "SY"; "NCI" . _:53add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Term"; "SY"; "NICHD" . _:53aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Term Birth"; "PT"; "NCI" . _:53afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Term Birth"; "PT"; "NICHD" . a owl:Class; rdfs:subClassOf ; "Birth at 39 weeks and 0 days through 40 weeks and 6 days."; ; "C114095"; "Finding"; "Full Term Birth"; "C3814420"; "NICHD"; "Birth at 39 weeks and 0 days through 40 weeks and 6 days gestation."; "Full Term Birth"; "Full Term", "Full Term Birth", "Full Term Pregnancy"; , ; rdfs:label "Full Term Birth" . _:53b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birth at 39 weeks and 0 days through 40 weeks and 6 days."; "NCI" . _:53b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birth at 39 weeks and 0 days through 40 weeks and 6 days gestation."; "NICHD" . _:53b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Full Term"; "SY"; "NCI" . _:53b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Full Term"; "SY"; "NICHD" . _:53b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Full Term Birth"; "PT"; "NCI" . _:53bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Full Term Birth"; "PT"; "NICHD" . _:53bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Full Term Pregnancy"; "SY"; "NCI"; "caDSR" . a owl:Class; rdfs:subClassOf ; "Any clinical attention received following a diagnosis or treatment, with the specific purpose of monitoring that specific diagnosis or treatment."; "C116570"; "Health Care Activity"; "Follow-Up Care"; "Follow-Up Care"; "C0001758"; "CTRP"; "Follow-Up Care"; , ; rdfs:label "Follow-Up Care" . _:53bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any clinical attention received following a diagnosis or treatment, with the specific purpose of monitoring that specific diagnosis or treatment."; "NCI" . _:53bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Follow-Up Care"; "DN"; "CTRP" . _:53c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Follow-Up Care"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Symptoms, physical examination results, and/or laboratory test results related to the female reproductive system."; "C117720"; "Finding"; "Female Reproductive System Finding"; "C3899142"; "Female Reproductive System Finding"; rdfs:label "Female Reproductive System Finding" . _:53c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Symptoms, physical examination results, and/or laboratory test results related to the female reproductive system."; "NCI" . _:53c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Female Reproductive System Finding"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf , ; "Any individual related biologically to an individual's father."; "C132451"; "Human"; "Biological Relative, Paternal"; "CL519686"; "CDISC"; "Any biological relative of an individual's biological father."; "Biological Relative, Paternal", "RELATIVE, BIOLOGICAL PATERNAL"; , , ; rdfs:label "Biological Relative, Paternal" . _:53c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any individual related biologically to an individual's father."; "NCI" . _:53cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any biological relative of an individual's biological father."; "CDISC" . _:53ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Relative, Paternal"; "PT"; "NCI" . _:53ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RELATIVE, BIOLOGICAL PATERNAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf ; "A healthcare profession that assesses, diagnoses, treats, and works to prevent disease, disability, and movement disorders through physical means."; "C150737"; "Occupation or Discipline"; "Physiotherapist"; "CL554559"; "Physiotherapist"; rdfs:label "Physiotherapist" . _:53cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A healthcare profession that assesses, diagnoses, treats, and works to prevent disease, disability, and movement disorders through physical means."; "NCI" . _:53d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Physiotherapist"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A patient encounter with a healthcare professional for a medical consultation."; "C150762"; "Conceptual Entity"; "Institutional Professional Consultation"; "CL554541"; "IC", "Institutional Professional Consultation"; rdfs:label "Institutional Professional Consultation" . _:53d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A patient encounter with a healthcare professional for a medical consultation."; "NCI" . _:53d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IC"; "SY"; "NCI"; "CDMH"; "caDSR" . _:53dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Institutional Professional Consultation"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Any of the services rendered for the benefit of a patient."; "C15239"; "Health Care Activity"; "Patient Care"; "C0017313"; "Patient_Care"; "Patient Care", "Patient Care Delivery"; rdfs:label "Patient Care" . _:53dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any of the services rendered for the benefit of a patient."; "NCI" . _:53dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Patient Care"; "PT"; "NCI" . _:53ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Patient Care Delivery"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "The process whereby an expert in hereditary disorders provides information about risk and clinical burden of a disorder or disorders to patients or relatives in families with genetic disorders as an aid to making informed and responsible decisions about marriage, children, early diagnosis, and handling disability."; "C15240"; "Health Care Activity"; "Genetic Counseling"; "Genetic Counseling"; "C0017382"; "CTRP"; "A communication process between a specially trained health professional and a person concerned about the genetic risk of disease. The person's family and personal medical history may be discussed, and counseling may lead to genetic testing."; "Genetic_Counseling"; "Genetic Counseling", "genetic counseling"; , ; rdfs:label "Genetic Counseling" . _:53e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The process whereby an expert in hereditary disorders provides information about risk and clinical burden of a disorder or disorders to patients or relatives in families with genetic disorders as an aid to making informed and responsible decisions about marriage, children, early diagnosis, and handling disability."; "NCI" . _:53e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A communication process between a specially trained health professional and a person concerned about the genetic risk of disease. The person's family and personal medical history may be discussed, and counseling may lead to genetic testing."; "NCI-GLOSS" . _:53e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic Counseling"; "DN"; "CTRP" . _:53e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic Counseling"; "PT"; "NCI" . _:53e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic counseling"; "PT"; "NCI-GLOSS"; "CDR0000044961" . a owl:Class; rdfs:subClassOf , ; "The age of an individual at the time of initial pathologic diagnosis."; "C156420"; "Organism Attribute"; "Age at Diagnosis"; "C1828181"; "NAACCR"; "Age at Diagnosis", "Age at diagnosis"; ; rdfs:label "Age at Diagnosis" . _:53f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The age of an individual at the time of initial pathologic diagnosis."; "NCI" . _:53f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age at Diagnosis"; "PT"; "NCI" . _:53f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age at diagnosis"; "PT"; "CPTAC" . a owl:Class; rdfs:subClassOf ; "The process by which information about the health status of an individual is obtained after a study has officially closed; an activity that continues something that has already begun or that repeats something that has already been done."; "C16033"; "Health Care Activity"; "Follow-Up"; "C1522577"; "CDISC"; "Monitoring a person's health over time after treatment. This includes keeping track of the health of people who participate in a clinical study or clinical trial for a period of time, both during the study and after the study ends.", "The process by which information about the health status of a subject is obtained after the subject is no longer receiving study medication."; "Follow-up"; "Active Follow-up", "CLSFUP", "Clinical Signs Follow-up", "Follow Up", "Follow-Up", "Follow-up", "Followup", "follow-up"; , , , ; rdfs:label "Follow-Up" . _:53fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The process by which information about the health status of an individual is obtained after a study has officially closed; an activity that continues something that has already begun or that repeats something that has already been done."; "NCI" . _:53fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Monitoring a person's health over time after treatment. This includes keeping track of the health of people who participate in a clinical study or clinical trial for a period of time, both during the study and after the study ends."; "NCI-GLOSS" . _:53ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The process by which information about the health status of a subject is obtained after the subject is no longer receiving study medication."; "CDISC" . _:5401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Active Follow-up"; "SY"; "NCI" . _:5402d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLSFUP"; "PT"; "CDISC"; "SEND-MATESTCD" . _:5404d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinical Signs Follow-up"; "PT"; "CDISC"; "SEND-MATEST" . _:5408d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinical Signs Follow-up"; "SY"; "CDISC" . _:5409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Follow Up"; "SY"; "NCI" . _:540bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Follow-Up"; "PT"; "NCI" . _:540dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Follow-up"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5412d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Followup"; "SY"; "NCI" . _:5414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follow-up"; "PT"; "NCI-GLOSS"; "CDR0000044671" . a owl:Class; rdfs:subClassOf , ; "Any individual related biologically to another individual and considered one degree removed from the immediate family as in the case of grandparents, aunts and uncles."; "C161421"; "Human"; "Second Degree Biological Relative"; "CDISC"; "Any individual related biologically to another individual and considered one degree removed from the immediate family as in the case of grandparents, aunts and uncles. (NCI)"; "RELATIVE, BIOLOGICAL, SECOND DEGREE", "Second Degree Biological Relative"; , , ; rdfs:label "Second Degree Biological Relative" . _:5417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any individual related biologically to another individual and considered one degree removed from the immediate family as in the case of grandparents, aunts and uncles."; "NCI" . _:5419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any individual related biologically to another individual and considered one degree removed from the immediate family as in the case of grandparents, aunts and uncles. (NCI)"; "CDISC" . _:541ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RELATIVE, BIOLOGICAL, SECOND DEGREE"; "PT"; "CDISC" . _:541cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Second Degree Biological Relative"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Any specific activity undertaken during the course of a clinical study or research protocol."; "C16203"; "Activity"; "Clinical or Research Activity"; "C1516654"; "Clinical_or_Research_Activity"; "Clinical or Research Activity"; rdfs:label "Clinical or Research Activity" . _:5420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any specific activity undertaken during the course of a clinical study or research protocol."; "NCI" . _:5421d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinical or Research Activity"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "The actions of prevention, treatment, and management of illness and the preservation of mental and physical well-being through the services offered by the medical and allied health professions."; "C16205"; "Health Care Activity"; "Healthcare Activity"; "CL414488"; "Healthcare_Activity"; "Health supervision and care of other healthy infant and child"; "Health Care Activity", "Healthcare", "Healthcare Activity"; rdfs:label "Healthcare Activity" . _:5422d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The actions of prevention, treatment, and management of illness and the preservation of mental and physical well-being through the services offered by the medical and allied health professions."; "NCI" . _:5423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health supervision and care of other healthy infant and child"; "Related To"; "PT"; "Z76.2"; "ICD10CM 2017" . _:5428d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health Care Activity"; "SY"; "NCI" . _:5429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Healthcare"; "SY"; "NCI" . _:5430d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Healthcare Activity"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli."; ; "C16326"; "Behavior"; "Behavior"; "C0004927"; "NICHD"; "Behavior"; "Behavior"; "Behavior", "Behavioral", "Conduct"; ; rdfs:label "Behavior" . _:5431d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli."; "NCI" . _:5433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Behavior"; "PT"; "NCI" . _:5435d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Behavior"; "PT"; "NICHD" . _:5436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Behavioral"; "AD"; "NCI" . _:543ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Conduct"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "The exchange of information between objects, people, or groups."; "C16452"; "Social Behavior"; "Communication"; "C0009452"; "Communication"; "Communication", "Communicative"; rdfs:label "Communication" . _:543bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The exchange of information between objects, people, or groups."; "NCI" . _:543dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Communication"; "PT"; "NCI" . _:543ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Communicative"; "AD"; "NCI" . a owl:Class; rdfs:subClassOf ; "A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both."; ; "C16576"; "Organism Attribute"; "Female"; "C0015780"; "CDISC", "FDA", "NICHD"; "A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI)"; "Female"; "Female"; "female"; "F", "FEMALE", "Female"; , , , , , , , , , , , ; rdfs:label "Female" . _:5446d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both."; "NCI" . _:5448d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI)"; "CDISC" . _:544ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female"; "Has Synonym"; "PT"; "GEN"; "GDC" . _:544bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female"; "Has Synonym"; "PT"; "RG"; "GDC" . _:544dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F"; "AB"; "NCI" . _:544fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F"; "PT"; "CDISC" . _:5450d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F"; "PT"; "FDA"; "ICSR" . _:5452d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FEMALE"; "PT"; "FDA"; "SPL" . _:5455d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Female"; "PT"; "FDA"; "ICSR-CVM" . _:5456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Female"; "PT"; "NCI" . _:5457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Female"; "PT"; "NICHD" . _:5458d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Female"; "SY"; "CDISC" . _:545bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Female"; "SY"; "NCI"; "NHIS"; "caDSR" . _:545ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Female"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function."; "C16612"; "Gene or Genome"; "Gene"; "C0017337"; "CDISC"; "A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function. (NCI)", "The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein."; "Gene"; "The gene as a functional unit consists of a discrete segment of a giant DNA molecule containing the purine (adenine and guanine) and pyrimidine (cytosine and thymine) bases in the ordered and correct sequence that encodes a specific functional product (i.e., a protein or RNA molecule)."; "GENE", "Gene", "Genes", "gene"; , , ; rdfs:label "Gene" . _:5463d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function."; "NCI" . _:5467d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function. (NCI)"; "CDISC" . _:5468d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein."; "NCI-GLOSS" . _:5469d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENE"; "PT"; "CDISC" . _:546cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gene"; "PT"; "NCI" . _:546dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gene"; "SY"; "NCI"; "TCGA"; "caDSR" . _:546fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genes"; "SY"; "NCI" . _:5471d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gene"; "PT"; "NCI-GLOSS"; "CDR0000045693" . a owl:Class; rdfs:subClassOf ; "Any demarcated area of the Earth; may be determined by both natural and human boundaries."; "C16632"; "Geographic Area"; "Geographic Area"; "C0017446"; "CDISC"; "Any demarcated area of the Earth; may be determined by both natural and human boundaries, such as a state or province."; "Geographic_Area"; "Area", "Geographic Area", "Geographic Location", "Geographic Region", "Region"; , , ; rdfs:label "Geographic Area" . _:547ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any demarcated area of the Earth; may be determined by both natural and human boundaries."; "NCI" . _:547cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any demarcated area of the Earth; may be determined by both natural and human boundaries, such as a state or province."; "CDISC" . _:547ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Area"; "SY"; "NCI" . _:547fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Geographic Area"; "PT"; "NCI" . _:5481d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Geographic Area"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5498d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Geographic Location"; "SY"; "NCI" . _:5499d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Geographic Region"; "PT"; "CDISC" . _:549bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Geographic Region"; "SY"; "NCI" . _:549cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Region"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "An institution that provides medical, surgical, or psychiatric care and treatment for the sick or the injured."; "C16696"; "Health Care Related Organization"; "Hospital"; "C0019994"; "CDISC", "FDA"; "An institution that provides medical, surgical, or psychiatric care and treatment for the sick or the injured."; "Hospital"; "HOSPITAL", "Hospital"; , , , , ; rdfs:label "Hospital" . _:54a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An institution that provides medical, surgical, or psychiatric care and treatment for the sick or the injured."; "NCI" . _:54a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An institution that provides medical, surgical, or psychiatric care and treatment for the sick or the injured."; "CDISC" . _:54a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOSPITAL"; "PT"; "CDISC" . _:54a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOSPITAL"; "PT"; "FDA"; "ICSR" . _:54a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hospital"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "The sciences concerned with gathering and manipulating and storing and retrieving and classifying recorded information."; "C16733"; "Occupation or Discipline"; "Information Sciences"; "C0021423"; "Information_Sciences"; "Information Sciences", "Information Technology"; rdfs:label "Information Sciences" . _:54add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The sciences concerned with gathering and manipulating and storing and retrieving and classifying recorded information."; "NCI" . _:54aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Information Sciences"; "PT"; "NCI" . _:54b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Information Technology"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "A person who receives medical attention, care, or treatment, or who is registered with medical professional or institution with the purpose to receive medical care when necessary. [ NCI ]"; "LAY USER/PATIENT, PT, patient, Patient, PATIENT, Patients"; "dipo"; rdfs:label "patient" . a owl:Class; rdfs:subClassOf ; "Technology is the discipline dealing with the art or science of applying scientific knowledge to practical problems."; "C17187"; "Occupation or Discipline"; "Technology"; "C0039421"; "Technology"; "Technology"; rdfs:label "Technology" . _:54b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Technology is the discipline dealing with the art or science of applying scientific knowledge to practical problems."; "NCI" . _:54b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Technology"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents."; "C17248"; "Nucleotide Sequence"; "Genetic Variation"; "Genetic Variation"; "C0042333"; "CTRP"; "Genetic_Variation"; "Genetic Diversity", "Genetic Variation", "Sequence Variant", "Sequence Variation"; , ; rdfs:label "Genetic Variation" . _:54b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents."; "NCI" . _:54b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic Diversity"; "SY"; "NCI" . _:54b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic Variation"; "DN"; "CTRP" . _:54b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic Variation"; "PT"; "NCI" . _:54bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sequence Variant"; "SY"; "NCI" . _:54bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sequence Variation"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes."; "C17357"; "Organism Attribute"; "Gender"; "C0079399"; "CDISC-GLOSS"; "Subject self-identification re: masculine/feminine. [IOM] See also sex."; "Gender"; "Gender", "gender"; , ; rdfs:label "Gender" . _:54bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes."; "NCI" . _:54c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Subject self-identification re: masculine/feminine. [IOM] See also sex."; "CDISC-GLOSS" . _:54c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gender"; "PT"; "NCI" . _:54c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gender"; "PT"; "CDISC-GLOSS" . a owl:Class; rdfs:subClassOf ; "Cataloging, grouping, and flagging data for ready retrieval."; "C17827"; "Occupational Activity"; "Information Resources Management"; "C0012972"; "Information_Resources_Management"; "Information Resources Management"; rdfs:label "Information Resources Management" . _:54c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cataloging, grouping, and flagging data for ready retrieval."; "NCI" . _:54c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Information Resources Management"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "An activity occurring within an organism, between organisms or among organisms and the mechanisms underlying such events."; "C17828"; "Biologic Function"; "Biological Process"; "C0031845"; "Biological_Process"; "Biological Function", "Biological Process"; rdfs:label "Biological Process" . _:54cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An activity occurring within an organism, between organisms or among organisms and the mechanisms underlying such events."; "NCI" . _:54ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Function"; "SY"; "NCI" . _:54cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Process"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Processes for data acquisition, validation, storage, protection, and processing."; "C18086"; "Occupation or Discipline"; "Data Management"; "C0596404"; "CDISC-GLOSS"; "Tasks associated with the entry, transfer, and/or preparation of source data and derived items for entry into a clinical trial database. NOTE: Data management could include database creation, data entry, review, coding, data editing, data QC, locking, or archiving; it typically does not include source data capture."; "Data_Management"; "Data Management", "data management"; , ; rdfs:label "Data Management" . _:54d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Processes for data acquisition, validation, storage, protection, and processing."; "NCI" . _:54d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tasks associated with the entry, transfer, and/or preparation of source data and derived items for entry into a clinical trial database. NOTE: Data management could include database creation, data entry, review, coding, data editing, data QC, locking, or archiving; it typically does not include source data capture."; "CDISC-GLOSS" . _:54d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Data Management"; "PT"; "NCI" . _:54d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "data management"; "PT"; "CDISC-GLOSS" . a owl:Class; rdfs:subClassOf ; "A grouping of occupations and fields of study."; "C19160"; "Occupation or Discipline"; "Occupation or Discipline"; "C1518533"; "Occupation_or_Discipline"; "Occupation or Discipline"; rdfs:label "Occupation or Discipline" . _:54dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A grouping of occupations and fields of study."; "NCI" . _:54ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Occupation or Discipline"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "C19177"; "Professional or Occupational Group"; "Speech Therapist"; "C0402015"; "FDA"; "A specialist who evaluates and treats people with communication and swallowing problems."; "Speech_Pathologist"; "SPEECH THERAPIST", "Speech Pathologist", "Speech Therapist", "speech pathologist", "speech therapist"; , , ; rdfs:label "Speech Therapist" . _:54ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A specialist who evaluates and treats people with communication and swallowing problems."; "NCI-GLOSS" . _:54e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPEECH THERAPIST"; "PT"; "FDA"; "ICSR" . _:54e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Speech Pathologist"; "SY"; "NCI" . _:54e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Speech Therapist"; "PT"; "NCI" . _:54e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "speech pathologist"; "PT"; "NCI-GLOSS"; "CDR0000043973" . _:54e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "speech therapist"; "SY"; "NCI-GLOSS"; "CDR0000044459" . a owl:Class; rdfs:subClassOf ; "Occupations within the field of medicine."; "C19254"; "Biomedical Occupation or Discipline"; "Medical Occupation"; "C1513058"; "Medical_Occupation"; "Health Care Occupation", "Medical Occupation"; rdfs:label "Medical Occupation" . _:54e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Occupations within the field of medicine."; "NCI" . _:54e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health Care Occupation"; "SY"; "NCI" . _:54ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Medical Occupation"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Institutions with an organized medical staff for the medical care, treatment, and cure of the sick and wounded, for the study of disease, and for the training of physicians, nurses, and allied health personnel."; "C19326"; "Health Care Related Organization"; "Clinics and Hospitals"; "C0587906"; "Clinics_and_Hospitals"; "Clinics and Hospitals", "Clinics or Hospitals"; rdfs:label "Clinics and Hospitals" . _:54edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Institutions with an organized medical staff for the medical care, treatment, and cure of the sick and wounded, for the study of disease, and for the training of physicians, nurses, and allied health personnel."; "NCI" . _:54eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinics and Hospitals"; "PT"; "NCI" . _:54f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinics or Hospitals"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "The distinguishing qualities or prominent aspects of an individual person."; "C19332"; "Organism Attribute"; "Personal Attribute"; "C0681884"; "Personal_Attribute"; "Personal", "Personal Attribute", "Subject Characteristics"; rdfs:label "Personal Attribute" . _:54f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The distinguishing qualities or prominent aspects of an individual person."; "NCI" . _:54f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Personal"; "SY"; "NCI" . _:54f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Personal Attribute"; "PT"; "NCI" . _:54f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Subject Characteristics"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf , ; "A physical object, or electronic counterpart, that is characterized by containing writing which is meant to be human-readable."; "C19498"; "Intellectual Product"; "Document"; "CL414404"; "BRIDG", "CDISC-GLOSS"; "All records, in any form (including but not limited to written, electronic, magnetic, and optical records, and scans, x-rays, and electrocardiograms) that describe or record the methods, conduct, and/or results of a trial, the factors affecting a trial, and the actions taken. [ICH E6 Glossary]", "An organized representation of information in publishable, human-readable form (that persists over time). EXAMPLE(S): Adverse Event Report, Expedited Adverse Event Report, Institutional Review Board (IRB) Report, X-Ray Report, Lab Summary Report, Autopsy Report. NOTE(S): A document groups the various document versions and has the following characteristics: 1) Stewardship, 2) Potential for authentication, 3) Wholeness, 4) Human readability, 5) Persistence, 6) Global vs local context (the person that signs it is the author of all sections unless otherwise noted). Regulatory processes require the submission of documents from the Applicant to the Regulatory Authority. These documents are varied in focus and are often defined by the field of study or by the regulatory application requirements of the region or Regulatory Authority (e.g., Integrated Summary of Safety, Pharmacokinetics Written Summary)."; "Document_Type"; "Used here to organize a wide variety of concepts that are characterized by writing or text"; "Document", "Document Type", "documentation"; , , , ; rdfs:label "Document" . _:54fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A physical object, or electronic counterpart, that is characterized by containing writing which is meant to be human-readable."; "NCI" . _:54fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "All records, in any form (including but not limited to written, electronic, magnetic, and optical records, and scans, x-rays, and electrocardiograms) that describe or record the methods, conduct, and/or results of a trial, the factors affecting a trial, and the actions taken. [ICH E6 Glossary]"; "CDISC-GLOSS" . _:54fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An organized representation of information in publishable, human-readable form (that persists over time). EXAMPLE(S): Adverse Event Report, Expedited Adverse Event Report, Institutional Review Board (IRB) Report, X-Ray Report, Lab Summary Report, Autopsy Report. NOTE(S): A document groups the various document versions and has the following characteristics: 1) Stewardship, 2) Potential for authentication, 3) Wholeness, 4) Human readability, 5) Persistence, 6) Global vs local context (the person that signs it is the author of all sections unless otherwise noted). Regulatory processes require the submission of documents from the Applicant to the Regulatory Authority. These documents are varied in focus and are often defined by the field of study or by the regulatory application requirements of the region or Regulatory Authority (e.g., Integrated Summary of Safety, Pharmacokinetics Written Summary)."; "BRIDG 3.0.3" . _:54fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Document"; "PT"; "BRIDG 3.0.3" . _:5500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Document"; "PT"; "NCI" . _:5502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Document Type"; "SY"; "NCI" . _:5504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "documentation"; "PT"; "CDISC-GLOSS" . a owl:Class; rdfs:subClassOf ; "Any place at which medical services are rendered. It includes traditional locations such as hospitals, clinics, and nursing homes as well as less traditional sites such as schools, supermarkets, and worksites."; "C19696"; "Functional Concept"; "Sites of Care Delivery"; "C1519337"; "Sites_of_Care_Delivery"; "Sites of Care Delivery"; rdfs:label "Sites of Care Delivery" . _:5507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any place at which medical services are rendered. It includes traditional locations such as hospitals, clinics, and nursing homes as well as less traditional sites such as schools, supermarkets, and worksites."; "NCI" . _:5509d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sites of Care Delivery"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Any relative who is two meioses away from a particular individual in a family; a relative with whom one quarter of an individual's genes is shared (i.e., grandparent, grandchild, uncle, aunt, nephew, niece, half-sibling) (from Genetics Home Reference glossary)"; "C19811"; "Human"; "Second Degree Relative"; "C1519210"; "CDISC"; "Any individual related biologically or legally to another individual and considered one degree removed from the immediate family as in the case of in-laws, grandparents, aunts and uncles.", "The aunts, uncles, grandparents, grandchildren, nieces, nephews, or half-siblings of an individual."; "Second_Degree_Relative"; "RELATIVE, SECOND DEGREE", "SDR", "Second Degree Relative", "second-degree relative"; , , ; rdfs:label "Second Degree Relative" . _:550ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any relative who is two meioses away from a particular individual in a family; a relative with whom one quarter of an individual's genes is shared (i.e., grandparent, grandchild, uncle, aunt, nephew, niece, half-sibling) (from Genetics Home Reference glossary)"; "NCI" . _:550cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any individual related biologically or legally to another individual and considered one degree removed from the immediate family as in the case of in-laws, grandparents, aunts and uncles."; "CDISC" . _:550dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The aunts, uncles, grandparents, grandchildren, nieces, nephews, or half-siblings of an individual."; "NCI-GLOSS" . _:550fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RELATIVE, SECOND DEGREE"; "PT"; "CDISC" . _:5511d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDR"; "PT"; "NCI-GLOSS"; "CDR0000485396" . _:5513d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Second Degree Relative"; "PT"; "NCI" . _:5515d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Second Degree Relative"; "SY"; "CDISC" . _:5518d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "second-degree relative"; "PT"; "NCI-GLOSS"; "CDR0000485395" . a owl:Class; rdfs:subClassOf ; "C19896"; "Classification"; "Miscellaneous Molecular Biology Terms"; "C1513329"; "Miscellaneous_Molecular_Biology_Terms"; "Miscellaneous Molecular Biology Terms"; rdfs:label "Miscellaneous Molecular Biology Terms" . _:551ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Miscellaneous Molecular Biology Terms"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A biologic function, activity, or process involving either specialized organ functions, individual organs, organ systems, body parts, or whole organisms."; ; "C19988"; "Organism Function"; "Organismal Process"; "CL415389"; "NICHD"; "Organismal_Process"; "Organismal Process"; "Organism-Level Process", "Organismal Process", "Physiological Process"; ; rdfs:label "Organismal Process" . _:5521d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biologic function, activity, or process involving either specialized organ functions, individual organs, organ systems, body parts, or whole organisms."; "NCI" . _:5523d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Organism-Level Process"; "SY"; "NCI" . _:5525d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Organismal Process"; "PT"; "NCI" . _:5526d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Organismal Process"; "PT"; "NICHD" . _:5528d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Physiological Process"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "An alphanumeric system designed to identify countries. The ISO 3166 standard includes a two letter representation, a three letter representation, and a 3 number representation. The last two are identical to the UN system. The US State Department system maintains a separate two letter representation code set."; "C20108"; "Classification"; "Country Code"; "C1511538"; "CareLex"; "Name of country using ISO 3166-1 alpha-3 country codes. [NCI]"; "Country_Code"; "Country", "Country Code"; ; rdfs:label "Country Code" . _:552cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An alphanumeric system designed to identify countries. The ISO 3166 standard includes a two letter representation, a three letter representation, and a 3 number representation. The last two are identical to the UN system. The US State Department system maintains a separate two letter representation code set."; "NCI" . _:552ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Name of country using ISO 3166-1 alpha-3 country codes. [NCI]"; "CareLex" . _:552fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Country"; "PT"; "CareLex" . _:5530d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Country Code"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "An organizational header for concepts representing mostly abstract entities."; "C20181"; "Classification"; "Conceptual Entity"; "C1254372"; "Conceptual_Entities"; "Conceptual Entity"; rdfs:label "Conceptual Entity" . _:5533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An organizational header for concepts representing mostly abstract entities."; "NCI" . _:5535d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Conceptual Entity"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A distinguishing quality or prominent aspect of a person, object, action, process, or substance."; ; "C20189"; "Conceptual Entity"; "Property or Attribute"; "C1514495"; "NICHD"; "Properties_or_Attributes"; "Property or Attribute"; "Property or Attribute"; ; rdfs:label "Property or Attribute" . _:5537d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A distinguishing quality or prominent aspect of a person, object, action, process, or substance."; "NCI" . _:5539d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Property or Attribute"; "PT"; "NCI" . _:553ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Property or Attribute"; "PT"; "NICHD" . a owl:Class; rdfs:subClassOf ; "A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both."; ; "C20197"; "Organism Attribute"; "Male"; "C0086582"; "CDISC", "FDA", "NICHD"; "A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. (NCI)"; "Male"; "Male"; "male"; "Human, Male", "M", "MALE", "Male"; , , , , , , , , , , , ; rdfs:label "Male" . _:553ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both."; "NCI" . _:553fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. (NCI)"; "CDISC" . _:5540d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male"; "Has Synonym"; "PT"; "GEN"; "GDC" . _:5542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male"; "Has Synonym"; "PT"; "RG"; "GDC" . _:5544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Human, Male"; "SY"; "NCI" . _:5547d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "M"; "AB"; "NCI" . _:5548d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "M"; "PT"; "CDISC" . _:5549d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "M"; "PT"; "FDA"; "ICSR" . _:554bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MALE"; "PT"; "FDA"; "SPL" . _:554dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male"; "PT"; "FDA"; "ICSR-CVM" . _:554ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male"; "PT"; "NCI" . _:5551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male"; "PT"; "NICHD" . _:5552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male"; "SY"; "CDISC" . _:5553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male"; "SY"; "NCI"; "NHIS"; "caDSR" . _:5554d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A professional healthcare provider who has graduated from an accredited nursing program, has passed the state exam for licensure, and been registered or licensed to practice by a state authority. Nurses are educationally prepared as functional (LPN/LVN) or professional (RN)."; "C20821"; "Biomedical Occupation or Discipline"; "Nurse"; "C0028661"; "CDISC", "FDA"; "A health professional trained to care for people who are ill or disabled.", "A professional healthcare provider who has graduated from a nursing program."; "Nurse"; "NURSE", "Nurse"; , , , , , ; rdfs:label "Nurse" . _:555ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A professional healthcare provider who has graduated from an accredited nursing program, has passed the state exam for licensure, and been registered or licensed to practice by a state authority. Nurses are educationally prepared as functional (LPN/LVN) or professional (RN)."; "NCI" . _:5561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A health professional trained to care for people who are ill or disabled."; "NCI-GLOSS" . _:5562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A professional healthcare provider who has graduated from a nursing program."; "CDISC" . _:5563d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NURSE"; "PT"; "CDISC" . _:5565d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NURSE"; "PT"; "FDA"; "ICSR" . _:5566d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nurse"; "PT"; "NCI" . _:5567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nurse"; "PT"; "NCI-GLOSS"; "CDR0000269445" . _:5568d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nurse"; "SY"; "CDISC" . a owl:Class; rdfs:subClassOf ; "A Reproductive System Process involves a function of cellular, cell, or tissue components of the organ system involved in generation of offspring that includes the ovaries, fallopian tubes, uterus, cervix, and vagina in women or the prostate, testes, and penis in men."; "C21173"; "Physiologic Function"; "Reproductive Process"; "C0442692"; "Reproductive_Process"; "Reproductive Process", "Reproductive System Process"; rdfs:label "Reproductive Process" . _:556bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Reproductive System Process involves a function of cellular, cell, or tissue components of the organ system involved in generation of offspring that includes the ovaries, fallopian tubes, uterus, cervix, and vagina in women or the prostate, testes, and penis in men."; "NCI" . _:556dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reproductive Process"; "PT"; "NCI" . _:556fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reproductive System Process"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "A person related by blood or marriage."; "C21480"; "Human"; "Relative"; "C0080103"; "CDISC"; "Any individual related biologically or legally to another individual."; "Relative"; "RELATIVE", "Relation", "Relative"; , , ; rdfs:label "Relative" . _:5574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person related by blood or marriage."; "NCI" . _:5575d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any individual related biologically or legally to another individual."; "CDISC" . _:5576d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RELATIVE"; "PT"; "CDISC" . _:5577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Relation"; "SY"; "NCI" . _:5578d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Relative"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Any relative who is one meiosis away from a particular individual in a family; a relative with whom one half of an individual's genes is shared (i.e., parent, sibling, offspring) (from Genetics Home Reference glossary)"; "C21481"; "Human"; "First Degree Relative"; "C1517194"; "CDISC"; "Any individual related biologically or legally to another individual and considered immediate family as in the case of a spouse, parent, sibling or child.", "The parents, siblings, or children of an individual."; "First_Degree_Relative"; "FDR", "First Degree Relative", "RELATIVE, FIRST DEGREE", "first-degree relative"; , , ; rdfs:label "First Degree Relative" . _:557ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any relative who is one meiosis away from a particular individual in a family; a relative with whom one half of an individual's genes is shared (i.e., parent, sibling, offspring) (from Genetics Home Reference glossary)"; "NCI" . _:5580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any individual related biologically or legally to another individual and considered immediate family as in the case of a spouse, parent, sibling or child."; "CDISC" . _:5582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The parents, siblings, or children of an individual."; "NCI-GLOSS" . _:5584d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FDR"; "PT"; "NCI-GLOSS"; "CDR0000536514" . _:5586d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "First Degree Relative"; "PT"; "NCI" . _:5587d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "First Degree Relative"; "SY"; "CDISC" . _:5588d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "First Degree Relative"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5589d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RELATIVE, FIRST DEGREE"; "PT"; "CDISC" . _:558ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "first-degree relative"; "PT"; "NCI-GLOSS"; "CDR0000460150" . a owl:Class; rdfs:subClassOf ; "The buildings and organizations where healthcare services are provided."; "C21541"; "Health Care Related Organization"; "Healthcare Facility"; "C0018704"; "BRIDG", "CDISC", "CDISC-GLOSS"; "An organization that devotes some or all of its resources (people, places, things) to the delivery of healthcare services (including the financial and administrative management of those resources). A healthcare facility may be manifest as a single physical location (e.g. building), or, alternatively, as a distributed collection of physical spaces. EXAMPLE(S): Northwestern Memorial Hospital", "Any public or private entity or agency or medical or dental facility where clinical trials are conducted. [ICH]", "The buildings and organizations where healthcare services are provided."; "Healthcare_Facility"; "HEALTH FACILITY", "Health Care Facility", "Healthcare Facility", "HealthcareFacility", "Institution", "institution (medical)"; , , , , , ; rdfs:label "Healthcare Facility" . _:558fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The buildings and organizations where healthcare services are provided."; "NCI" . _:5590d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An organization that devotes some or all of its resources (people, places, things) to the delivery of healthcare services (including the financial and administrative management of those resources). A healthcare facility may be manifest as a single physical location (e.g. building), or, alternatively, as a distributed collection of physical spaces. EXAMPLE(S): Northwestern Memorial Hospital"; "BRIDG 3.0.3" . _:5593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any public or private entity or agency or medical or dental facility where clinical trials are conducted. [ICH]"; "CDISC-GLOSS" . _:5595d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The buildings and organizations where healthcare services are provided."; "CDISC" . _:5597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HEALTH FACILITY"; "PT"; "CDISC" . _:5598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health Care Facility"; "SY"; "NCI" . _:5599d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Healthcare Facility"; "PT"; "NCI" . _:559ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HealthcareFacility"; "PT"; "BRIDG 3.0.3" . _:559cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Institution"; "SY"; "NCI" . _:559dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "institution (medical)"; "PT"; "CDISC-GLOSS" . a owl:Class; rdfs:subClassOf ; "How long something has existed; elapsed time since birth."; ; "C25150"; "Organism Attribute"; "Age"; "C0001779"; "BRIDG", "CDISC", "FDA", "INC", "NICHD"; "How long something has existed; elapsed time since birth. (NCI)", "The time elapsed since birth.", "Time elapsed after birth."; "Age"; "Chronological Age"; "AGE", "Age", "Aged", "Chronological Age", "Postnatal Age", "age"; , , , , , , , , , , , , , ; rdfs:label "Age" . _:55a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "How long something has existed; elapsed time since birth."; "NCI" . _:55a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "How long something has existed; elapsed time since birth. (NCI)"; "CDISC" . _:55a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The time elapsed since birth."; "NICHD" . _:55a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Time elapsed after birth."; "INC" . _:55a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGE"; "PT"; "CDISC"; "CDISC-VARIABLE" . _:55a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGE"; "PT"; "CDISC"; "SEND-STSPRMCD" . _:55aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGE"; "PT"; "FDA"; "ICSR" . _:55abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age"; "PT"; "CDISC"; "SEND-STSPRM" . _:55acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age"; "PT"; "NCI" . _:55add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age"; "SY"; "CDISC" . _:55aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age"; "SY"; "NCI"; "NHIS"; "caDSR" . _:55afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age"; "SY"; "NCI"; "TCGA"; "caDSR" . _:55b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aged"; "AD"; "NCI" . _:55b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chronological Age"; "PT"; "INC" . _:55b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chronological Age"; "PT"; "NICHD" . _:55b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chronological Age"; "SY"; "NCI" . _:55b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Postnatal Age"; "SY"; "NCI" . _:55b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Postnatal Age"; "SY"; "NICHD" . _:55bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "age"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf , ; "A symbol or combination of symbols which is assigned to the members of a collection."; "C25162"; "Intellectual Product"; "Code"; "C0805701"; "BRIDG", "FDA"; "Internal code used by the applicant or sponsor."; "Code"; "CODE", "Code", "Code Name", "Coding System", "code"; , , , , , ; rdfs:label "Code" . _:55bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A symbol or combination of symbols which is assigned to the members of a collection."; "NCI" . _:55c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Internal code used by the applicant or sponsor."; "FDA"; "eCTD" . _:55c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CODE"; "PT"; "CDISC" . _:55c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Code"; "PT"; "NCI" . _:55c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Code"; "SY"; "NCI"; "NHIS"; "caDSR" . _:55c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Code"; "SY"; "NCI"; "TCGA"; "caDSR" . _:55c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Code Name"; "PT"; "FDA"; "eCTD" . _:55c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Coding System"; "SY"; "NCI" . _:55c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "code"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "A female human offspring."; "C25165"; "Human"; "Daughter"; "C0337552"; "Daughter"; "Daughter", "Natural Daughter"; "Daughter"; rdfs:label "Daughter" . _:55ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female human offspring."; "NCI" . _:55cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Daughter"; "Has Synonym"; "PT"; "RT"; "GDC" . _:55cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Daughter"; "Has Synonym"; "PT"; "RT"; "GDC" . _:55d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Daughter"; "PT"; "NCI" . _:55d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Daughter"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf , ; "A male parent."; "C25174"; "Human"; "Father"; "C0015671"; "CDISC"; "A male parent."; "Father"; "Father"; "FATHER", "Father"; , , ; rdfs:label "Father" . _:55d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male parent."; "NCI" . _:55d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male parent."; "CDISC" . _:55dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Father"; "Has Synonym"; "PT"; "RT"; "GDC" . _:55dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FATHER"; "PT"; "CDISC" . _:55ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Father"; "PT"; "NCI" . _:55dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Father"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf , ; "A female parent."; "C25189"; "Human"; "Mother"; "C0026591"; "CDISC"; "A female parent."; "Mother"; "Mother"; "MOTHER", "Mother"; , , ; rdfs:label "Mother" . _:55e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female parent."; "NCI" . _:55e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female parent."; "CDISC" . _:55e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mother"; "Has Synonym"; "PT"; "RT"; "GDC" . _:55e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOTHER"; "PT"; "CDISC" . _:55e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mother"; "PT"; "NCI" . _:55e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mother"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A human being."; ; "C25190"; "Human"; "Person"; "C0027361"; "BRIDG", "NICHD"; "A human being."; "Person"; "Person"; "Individual", "Person"; , , , , , ; rdfs:label "Person" . _:55ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A human being."; "NCI" . _:55f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A human being."; "BRIDG 3.0.3" . _:55f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Individual"; "SY"; "NCI" . _:55f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person"; "PT"; "BRIDG 3.0.3" . _:55f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person"; "PT"; "NCI" . _:55f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person"; "PT"; "NICHD" . _:55f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person"; "SY"; "NCI"; "CES-D"; "caDSR" . _:55f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person"; "SY"; "NCI"; "NHIS"; "caDSR" . _:55f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first."; ; "C25191"; "Organism Attribute"; "Person Name"; "C1547383"; "BRIDG", "CDISC", "CareLex", "NICHD"; "A non-unique textual identifier for the person. EXAMPLE(S): proper name, nickname, legal name", "A non-unique textual identifier for the person. Examples include but are not limited to proper name, nickname, legal name. [BRIDG]", "A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first."; "Name"; "Person Name"; "Contact Name", "Individual's Name", "Name", "Name of Person", "Person Name", "Person.name"; , , , , , , , ; rdfs:label "Person Name" . _:55fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first."; "NCI" . _:55fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-unique textual identifier for the person. EXAMPLE(S): proper name, nickname, legal name"; "BRIDG 3.0.3" . _:55ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-unique textual identifier for the person. Examples include but are not limited to proper name, nickname, legal name. [BRIDG]"; "CareLex" . _:5600d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first."; "CDISC" . _:5601d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Contact Name"; "PT"; "CDISC" . _:5603d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Contact Name"; "SY"; "CareLex" . _:5604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Individual's Name"; "SY"; "CDISC" . _:5606d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Name"; "SY"; "NCI" . _:5608d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Name of Person"; "SY"; "NCI" . _:560ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person Name"; "PT"; "CareLex" . _:560cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person Name"; "PT"; "NCI" . _:560ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person Name"; "PT"; "NICHD" . _:560fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person Name"; "SY"; "CDISC" . _:5610d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person Name"; "SY"; "CareLex" . _:5614d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person Name"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5615d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Person.name"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "The principal activity that a person does to earn money."; "C25193"; "Occupation or Discipline"; "Occupation"; "C0028811"; "CDISC", "FDA"; "A code specifying the job performed by the employee for the employer. For example, accountant, programmer analyst, patient care associate, staff nurse, etc."; "Occupation"; "EMPJOB", "Employee Job", "Job", "OCCUPATION", "Occupation"; , , , , , ; rdfs:label "Occupation" . _:5619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The principal activity that a person does to earn money."; "NCI" . _:561ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A code specifying the job performed by the employee for the employer. For example, accountant, programmer analyst, patient care associate, staff nurse, etc."; "CDISC" . _:561bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMPJOB"; "PT"; "CDISC"; "SDTM-SCTESTCD" . _:561dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Employee Job"; "PT"; "CDISC"; "SDTM-SCTEST" . _:561fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Employee Job"; "SY"; "CDISC" . _:5621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Job"; "SY"; "NCI" . _:5625d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCCUPATION"; "PT"; "FDA"; "ICSR" . _:5628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Occupation"; "PT"; "NCI" . _:562ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Occupation"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "Anything (e.g., a document) providing permanent evidence of or information about past events."; "C25198"; "Intellectual Product"; "Record"; "C0034869"; "FDA"; "Record"; "Record"; ; rdfs:label "Record" . _:562ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anything (e.g., a document) providing permanent evidence of or information about past events."; "NCI" . _:562fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Record"; "PT"; "FDA"; "ICSR-CVM" . _:5630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Record"; "PT"; "NCI" . _:5634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Record"; "SY"; "NCI"; "NHIS"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A person's brother or sister."; "C25204"; "Human"; "Sibling"; "C0037047"; "CDISC"; "A person's brother or sister who has the same parents.", "A person's brother or sister."; "Sibling"; "Sibling"; "SIBLING", "Sib", "Sibling", "sibling"; , , , ; rdfs:label "Sibling" . _:5638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's brother or sister."; "NCI" . _:563ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's brother or sister who has the same parents."; "NCI-GLOSS" . _:563cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's brother or sister."; "CDISC" . _:563ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sibling"; "Has Synonym"; "PT"; "RT"; "GDC" . _:563fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIBLING"; "PT"; "CDISC" . _:5641d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sib"; "AB"; "NCI" . _:5643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sibling"; "PT"; "NCI" . _:5645d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sibling"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sibling"; "PT"; "NCI-GLOSS"; "CDR0000616710" . a owl:Class; rdfs:subClassOf ; "The vertical force exerted by a mass as a result of gravity."; "C25208"; "Quantitative Concept"; "Weight"; "C0043100"; "CDISC", "FDA"; "The vertical force exerted by a mass as a result of gravity.", "The vertical force exerted by a mass as a result of gravity. (NCI)"; "Weight"; "WEIGHT", "Weight", "Weight at Time of Procedure"; , , , , , , , , , , ; rdfs:label "Weight" . _:565ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The vertical force exerted by a mass as a result of gravity."; "NCI" . _:5660d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The vertical force exerted by a mass as a result of gravity."; "FDA"; "CDRH-GUDID" . _:5661d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The vertical force exerted by a mass as a result of gravity. (NCI)"; "CDISC" . _:5662d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WEIGHT"; "PT"; "CDISC"; "SDTM-CVTESTCD" . _:5663d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WEIGHT"; "PT"; "CDISC"; "SDTM-VSTESTCD" . _:5664d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WEIGHT"; "PT"; "CDISC"; "SEND-OMTESTCD" . _:5665d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WEIGHT"; "PT"; "FDA"; "ICSR" . _:5669d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight"; "PT"; "CDISC"; "SDTM-CVTEST" . _:566dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight"; "PT"; "CDISC"; "SDTM-VSTEST" . _:5671d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight"; "PT"; "CDISC"; "SEND-OMTEST" . _:5672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight"; "PT"; "CPTAC" . _:5673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight"; "PT"; "FDA"; "CDRH-GUDID" . _:5674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight"; "PT"; "NCI" . _:5676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight"; "SY"; "CDISC" . _:5679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight"; "SY"; "NCI"; "TCGA"; "caDSR" . _:567dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight at Time of Procedure"; "SY"; "CPTAC" . a owl:Class; rdfs:subClassOf ; "An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects."; ; "C25218"; "Health Care Activity"; "Intervention or Procedure"; "C0184661"; "BRIDG", "CDISC-GLOSS", "NICHD"; "In medicine, a treatment or action taken to prevent or treat disease, or improve health in other ways.", "The drug, device, therapy, or process under investigation in a clinical study that is believed to have an effect on outcomes of interest in a study (e.g., health-related quality of life, efficacy, safety, pharmacoeconomics). See also: test articles; devices; drug product; medicinal product; combination product."; "Procedure"; "Intervention or Procedure"; "Intervention", "Intervention Strategies", "Intervention or Procedure", "Interventional", "Procedure", "intervention", "interventionDescription"; , , , , , ; rdfs:label "Intervention or Procedure" . _:567ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects."; "NCI" . _:567fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "In medicine, a treatment or action taken to prevent or treat disease, or improve health in other ways."; "NCI-GLOSS" . _:5680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The drug, device, therapy, or process under investigation in a clinical study that is believed to have an effect on outcomes of interest in a study (e.g., health-related quality of life, efficacy, safety, pharmacoeconomics). See also: test articles; devices; drug product; medicinal product; combination product."; "CDISC-GLOSS" . _:5681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intervention"; "SY"; "NCI" . _:5682d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intervention Strategies"; "SY"; "NCI" . _:5683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intervention or Procedure"; "PT"; "NCI" . _:5684d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intervention or Procedure"; "PT"; "NICHD" . _:5685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Interventional"; "AD"; "NCI" . _:5686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Procedure"; "SY"; "NCI" . _:5687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Procedure"; "SY"; "NICHD" . _:5688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intervention"; "PT"; "CDISC-GLOSS" . _:5689d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intervention"; "PT"; "NCI-GLOSS"; "CDR0000454757" . _:568ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "interventionDescription"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "A male sibling."; "C25289"; "Human"; "Brother"; "C0337527"; "Brother"; "Brother"; "Brother"; rdfs:label "Brother" . _:568bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male sibling."; "NCI" . _:568cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brother"; "Has Synonym"; "PT"; "RT"; "GDC" . _:568dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brother"; "PT"; "NCI" . _:568fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brother"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A numeral or string of numerals expressing value, quantity, or identification."; "C25337"; "Quantitative Concept"; "Number"; "C0237753"; "UCUM"; "Number"; "Number", "Numeric", "Numerical", "number", "{Number}"; , , ; rdfs:label "Number" . _:5693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A numeral or string of numerals expressing value, quantity, or identification."; "NCI" . _:5697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Number"; "PT"; "NCI" . _:569bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Number"; "SY"; "NCI"; "NHIS"; "caDSR" . _:569cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Number"; "SY"; "NCI"; "SNS"; "caDSR" . _:569dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Number"; "SY"; "NCI"; "TCGA"; "caDSR" . _:569ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Numeric"; "AD"; "NCI" . _:569fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Numerical"; "AD"; "NCI" . _:56a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "number"; "PT"; "UCUM" . _:56a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "{Number}"; "SY"; "UCUM" . a owl:Class; rdfs:subClassOf ; "One or more characters used to identify, name, or characterize the nature, properties, or contents of a thing."; "C25364"; "Intellectual Product"; "Identifier"; "C0600091"; "BRIDG"; "Identifier"; "Descriptor", "Designation", "Designator", "ID", "Identifier", "identifier"; , , , ; rdfs:label "Identifier" . _:56aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "One or more characters used to identify, name, or characterize the nature, properties, or contents of a thing."; "NCI" . _:56acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Descriptor"; "SY"; "NCI" . _:56add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Designation"; "SY"; "NCI" . _:56b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Designator"; "SY"; "NCI" . _:56b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ID"; "AB"; "NCI" . _:56b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ID"; "PT"; "CDISC" . _:56b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Identifier"; "PT"; "NCI" . _:56b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Identifier"; "SY"; "NCI"; "TCGA"; "caDSR" . _:56bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "identifier"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "A written or verbal account, representation, statement, or explanation of something."; "C25365"; "Intellectual Product"; "Description"; "C0678257"; "BRIDG", "CDISC", "CareLex"; "A written or verbal account, representation, statement, or explanation of something. (NCI)", "An account of the resource or content item."; "Description"; "DESCR", "Desc", "Description", "Descriptive", "Descriptor", "description"; , , , , , , , , , ; rdfs:label "Description" . _:56c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A written or verbal account, representation, statement, or explanation of something."; "NCI" . _:56cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A written or verbal account, representation, statement, or explanation of something. (NCI)"; "CDISC" . _:56d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An account of the resource or content item."; "CareLex" . _:56d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DESCR"; "PT"; "CDISC"; "SDTM-PHSPRPCD" . _:56d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Desc"; "AB"; "NCI" . _:56d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Description"; "PT"; "CDISC"; "SDTM-PHSPRP" . _:56d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Description"; "PT"; "CareLex" . _:56dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Description"; "PT"; "NCI" . _:56ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Description"; "SY"; "CDISC" . _:56e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Description"; "SY"; "NCI"; "NHIS"; "caDSR" . _:56e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Description"; "SY"; "NCI"; "OMRS"; "caDSR" . _:56e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Description"; "SY"; "NCI"; "TCGA"; "caDSR" . _:56edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Descriptive"; "AD"; "NCI" . _:56f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Descriptor"; "SY"; "NCI" . _:56f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "description"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "A woman's surname before marriage."; ; "C25381"; "Organism Attribute"; "Maiden Name"; "C0806887"; "NICHD"; "Maiden_Name"; "Maiden Name"; "Maiden", "Maiden Name"; , ; rdfs:label "Maiden Name" . _:56fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A woman's surname before marriage."; "NCI" . _:5702d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maiden"; "SY"; "NCI" . _:5703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maiden Name"; "PT"; "NCI" . _:5704d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maiden Name"; "PT"; "NICHD" . a owl:Class; rdfs:subClassOf ; "Relating to the examination and treatment of patients dependent on direct observation. The term may also refer to the institution (clinic) providing this activity."; "C25398"; "Qualitative Concept"; "Clinical"; "C0205210"; "Having to do with the examination and treatment of patients."; "Clinical"; "Clinical"; "Clinical", "clinical"; rdfs:label "Clinical" . _:570bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Relating to the examination and treatment of patients dependent on direct observation. The term may also refer to the institution (clinic) providing this activity."; "NCI" . _:570fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Having to do with the examination and treatment of patients."; "NCI-GLOSS" . _:5713d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinical"; "Has Synonym"; "PT"; "DATAC"; "GDC" . _:5717d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinical"; "PT"; "NCI" . _:5719d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinical"; "SY"; "NCI"; "TCGA"; "caDSR" . _:571ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "clinical"; "PT"; "NCI-GLOSS"; "CDR0000044168" . a owl:Class; rdfs:subClassOf ; "A thing done."; "C25404"; "Activity"; "Action"; "C3266814"; "Action"; "Action", "Generic Action"; ; rdfs:label "Action" . _:5722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A thing done."; "NCI" . _:5726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Action"; "PT"; "NCI" . _:5727d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Action"; "SY"; "NCI"; "LBCQ"; "caDSR" . _:572bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Generic Action"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "A standardized representation of the location of a person, business, building, or organization."; ; "C25407"; "Spatial Concept"; "Address"; "C1442065"; "BRIDG", "CDISC", "NICHD"; "A standardized representation of the location of a person, business, building, or organization. (NCI)"; "Address"; "Address"; "Address", "Physical Address", "physicalAddress"; , , , , , , , ; rdfs:label "Address" . _:573dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A standardized representation of the location of a person, business, building, or organization."; "NCI" . _:573ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A standardized representation of the location of a person, business, building, or organization. (NCI)"; "CDISC" . _:5742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Address"; "PT"; "NCI" . _:5746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Address"; "PT"; "NICHD" . _:5750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Address"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5752d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Physical Address"; "PT"; "CDISC" . _:5753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "physicalAddress"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "The distinguishing qualities or prominent aspect of a person, object, action, process, or substance."; ; "C25447"; "Conceptual Entity"; "Characteristic"; "C1521970"; "NICHD"; "Characteristics"; "Characteristic"; "Characteristic", "Characteristics", "Feature", "Features"; , ; rdfs:label "Characteristic" . _:575cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The distinguishing qualities or prominent aspect of a person, object, action, process, or substance."; "NCI" . _:5765d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Characteristic"; "PT"; "NCI" . _:5766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Characteristic"; "PT"; "NICHD" . _:5767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Characteristic"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Characteristics"; "SY"; "NCI" . _:5769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Feature"; "SY"; "NCI" . _:576ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Features"; "SY"; "NCI"; "caDSR" . a owl:Class; rdfs:subClassOf ; "Having been established or verified."; "C25458"; "Conceptual Entity"; "Confirmation"; "C0750484"; "Confirmed"; "Confirmation", "Confirmatory", "Confirmed"; rdfs:label "Confirmation" . _:576bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Having been established or verified."; "NCI" . _:5770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Confirmation"; "PT"; "NCI" . _:5771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Confirmation"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Confirmatory"; "AD"; "NCI" . _:5773d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Confirmed"; "AD"; "NCI" . a owl:Class; rdfs:subClassOf ; "Permission to do something."; "C25460"; "Conceptual Entity"; "Consent"; "C1511481"; "Consent"; "Consent"; rdfs:label "Consent" . _:5774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Permission to do something."; "NCI" . _:5775d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Consent"; "PT"; "NCI" . _:5776d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Consent"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states."; "C25464"; "Geographic Area"; "Country"; "C0454664"; "CDISC", "FDA"; "A sovereign nation occupying a distinct territory and ruled by an autonomous government."; "Country"; "COUNTRY", "Country"; , , , , ; rdfs:label "Country" . _:5777d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states."; "NCI"; "from CIA World Factbook 2002: http://www.cia.gov/cia/publications/factbook/docs/notesanddefs.html" . _:5778d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sovereign nation occupying a distinct territory and ruled by an autonomous government."; "CDISC" . _:5779d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COUNTRY"; "PT"; "CDISC"; "SDTM-OBSCLS" . _:577ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COUNTRY"; "PT"; "FDA"; "ICSR" . _:577bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Country"; "PT"; "CDISC"; "PROT-Att Physical Address" . _:577fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Country"; "PT"; "NCI" . _:5787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Country"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "Something that happens at a given place and time."; "C25499"; "Event"; "Event"; "C0441471"; "Event"; "Event"; rdfs:label "Event" . _:578cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Something that happens at a given place and time."; "NCI" . _:578dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Event"; "PT"; "NCI" . _:578fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Event"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A female sibling."; "C25680"; "Human"; "Sister"; "C0337514"; "Sister"; "Sister"; "Sister"; rdfs:label "Sister" . _:5792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female sibling."; "NCI" . _:5793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sister"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sister"; "PT"; "NCI" . _:5795d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sister"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A named quantity in terms of which other quantities are measured or specified, used as a standard measurement of like kinds."; ; "C25709"; "Conceptual Entity"; "Unit of Measure"; "C1519795"; "ICH", "NICHD", "UCUM"; "Unit_of_Measure"; "Unit of Measure"; "U", "UOM", "Unit", "Unit of Measure", "Unit of Measurement", "Unit(s)", "Units", "unit", "unit(s)"; , , , ; rdfs:label "Unit of Measure" . _:5797d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A named quantity in terms of which other quantities are measured or specified, used as a standard measurement of like kinds."; "NCI" . _:5799d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "U"; "AB"; "ICH"; "0247" . _:579bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "U"; "AB"; "NCI" . _:579dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "U"; "AB"; "UCUM" . _:579fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UOM"; "AB"; "NCI" . _:57a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit"; "SY"; "NCI" . _:57a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit of Measure"; "PT"; "NCI" . _:57a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit of Measure"; "PT"; "NICHD" . _:57a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit of Measure"; "SY"; "NCI"; "TCGA"; "caDSR" . _:57a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit of Measurement"; "SY"; "NCI" . _:57a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit(s)"; "SY"; "NCI" . _:57aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Units"; "SY"; "NCI" . _:57abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "unit"; "PT"; "UCUM" . _:57acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "unit(s)"; "PT"; "ICH"; "0247" . a owl:Class; rdfs:subClassOf ; "A doctor; a person who has been educated, trained, and licensed to practice the art and science of medicine; a practitioner of medicine, as contrasted with a surgeon."; "C25741"; "Professional or Occupational Group"; "Physician"; "Physician"; "C0031831"; "CTRP", "FDA"; "Medical doctor."; "Physician"; "DR", "Doctor", "PHYSICIAN", "Physician", "physician"; , , , , ; rdfs:label "Physician" . _:57add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A doctor; a person who has been educated, trained, and licensed to practice the art and science of medicine; a practitioner of medicine, as contrasted with a surgeon."; "NCI" . _:57aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Medical doctor."; "NCI-GLOSS" . _:57afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DR"; "AB"; "NCI" . _:57b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Doctor"; "SY"; "NCI" . _:57b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHYSICIAN"; "PT"; "FDA"; "ICSR" . _:57b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Physician"; "DN"; "CTRP" . _:57b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Physician"; "PT"; "FDA"; "ICSR-CVM" . _:57bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Physician"; "PT"; "NCI" . _:57bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "physician"; "PT"; "NCI-GLOSS"; "CDR0000390246" . a owl:Class; rdfs:subClassOf ; "A term that helps define and render another concept unique."; "C27993"; "Qualitative Concept"; "General Qualifier"; "C1517500"; "General_Modifier"; "General Modifier", "General Qualifier", "General Qualifiers"; rdfs:label "General Qualifier" . _:57c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A term that helps define and render another concept unique."; "NCI" . _:57c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "General Modifier"; "SY"; "NCI" . _:57c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "General Qualifier"; "PT"; "NCI" . _:57c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "General Qualifiers"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "C28174"; "Professional or Occupational Group"; "Occupational Therapist"; "C0028807"; "FDA"; "A health professional trained to help people who are ill or disabled learn to manage their daily activities."; "Occupational_Therapist"; "OCCUPATIONAL THERAPIST", "Occupational Therapist", "occupational therapist"; , , ; rdfs:label "Occupational Therapist" . _:57cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A health professional trained to help people who are ill or disabled learn to manage their daily activities."; "NCI-GLOSS" . _:57cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCCUPATIONAL THERAPIST"; "PT"; "FDA"; "ICSR" . _:57ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Occupational Therapist"; "PT"; "NCI" . _:57cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "occupational therapist"; "PT"; "NCI-GLOSS"; "CDR0000269446" . a owl:Class; rdfs:subClassOf ; "Pertaining to biology or to life and living things."; "C28226"; "Conceptual Entity"; "Biological"; "C0205460"; "Pertaining to biology or to life and living things. In medicine, refers to a substance made from a living organism or its products. Biologicals may be used to prevent, diagnose, treat or relieve of symptoms of a disease. For example, antibodies, interleukins, and vaccines are biologicals. Biological also refers to parents and children who are related by blood."; "Biological"; "Biologic", "Biological", "Biologically", "biological"; rdfs:label "Biological" . _:57ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pertaining to biology or to life and living things."; "NCI" . _:57cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pertaining to biology or to life and living things. In medicine, refers to a substance made from a living organism or its products. Biologicals may be used to prevent, diagnose, treat or relieve of symptoms of a disease. For example, antibodies, interleukins, and vaccines are biologicals. Biological also refers to parents and children who are related by blood."; "NCI-GLOSS" . _:57d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biologic"; "AD"; "NCI" . _:57d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological"; "PT"; "NCI" . _:57d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biologically"; "AD"; "NCI" . _:57d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biological"; "PT"; "NCI-GLOSS"; "CDR0000044510" . a owl:Class; rdfs:subClassOf ; "A professional trained and qualified to provide nutritional services at individual, institutional and community levels in term of assessing nutritional needs and coordinating them with medical ones, developing and implementing nutrition programs, evaluation and reporting their results, as well as to educate people on healthy eating, and diseases prevention and treatment by means of dietary modifications."; "C28248"; "Professional or Occupational Group"; "Dietitian"; "C3536818"; "FDA"; "A health professional with special training in nutrition who can offer help with the choice of foods a person eats and drinks."; "Dietitian"; "DIETICIAN", "Dietician", "Dietitian", "Nutritionist", "dietitian", "nutritionist"; , , ; rdfs:label "Dietitian" . _:57d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A professional trained and qualified to provide nutritional services at individual, institutional and community levels in term of assessing nutritional needs and coordinating them with medical ones, developing and implementing nutrition programs, evaluation and reporting their results, as well as to educate people on healthy eating, and diseases prevention and treatment by means of dietary modifications."; "NCI" . _:57dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A health professional with special training in nutrition who can offer help with the choice of foods a person eats and drinks."; "NCI-GLOSS" . _:57dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIETICIAN"; "PT"; "FDA"; "ICSR" . _:57dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dietician"; "SY"; "NCI" . _:57ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dietitian"; "PT"; "NCI" . _:57ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nutritionist"; "SY"; "NCI" . _:57dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dietitian"; "PT"; "NCI-GLOSS"; "CDR0000044661" . _:57e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nutritionist"; "PT"; "NCI-GLOSS"; "CDR0000044662" . a owl:Class; rdfs:subClassOf ; "Professional health-care providers who are not physicians, especially medical assistants, technicians, and therapists but not nurses. (dictionary.com)"; "C28398"; "Occupation or Discipline"; "Allied Health Profession"; "C1510859"; "Allied_Health_Profession"; "Allied Health Profession"; rdfs:label "Allied Health Profession" . _:57e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Professional health-care providers who are not physicians, especially medical assistants, technicians, and therapists but not nurses. (dictionary.com)"; "NCI" . _:57e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Allied Health Profession"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf , ; "One of the 12 divisions of a year as determined by a calendar. It corresponds to the unit of time of approximately to one cycle of the moon's phases, about 30 days or 4 weeks."; "C29846"; "Temporal Concept"; "Month"; "C0439231"; "CDISC", "CPTAC", "NCPDP", "UCUM"; "One of the 12 divisions of a year as determined by a calendar. It corresponds to the unit of time of approximately to one cycle of the moon's phases, about 30 days or 4 weeks. (NCI)"; "Month"; "MONTHS", "Month", "Months", "mo", "month"; , , , , , , , , , , , ; rdfs:label "Month" . _:57ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "One of the 12 divisions of a year as determined by a calendar. It corresponds to the unit of time of approximately to one cycle of the moon's phases, about 30 days or 4 weeks."; "NCI" . _:57ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "One of the 12 divisions of a year as determined by a calendar. It corresponds to the unit of time of approximately to one cycle of the moon's phases, about 30 days or 4 weeks. (NCI)"; "CDISC" . _:57edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONTHS"; "PT"; "CDISC" . _:57efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Month"; "PT"; "NCI" . _:57f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Month"; "PT"; "NCPDP" . _:57f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Month"; "SY"; "CDISC" . _:57f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Month"; "SY"; "NCI"; "PSS"; "caDSR" . _:57f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Month"; "SY"; "NCI"; "TCGA"; "caDSR" . _:57fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Months"; "PT"; "CPTAC" . _:57ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mo"; "AB"; "UCUM" . _:5801d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "month"; "PT"; "UCUM" . a owl:Class; rdfs:subClassOf ; "Clinical, laboratory or molecular evidence, or absence of evidence of disease."; ; "C3367"; "Finding"; "Finding"; "Finding"; "C1285578"; "CDISC-GLOSS", "CTRP", "NICHD"; "A meaningful interpretation of data or observations resulting from planned evaluations. Compare to conclusion, hypothesis."; "Finding"; "Finding"; "Finding", "Observable Entity", "finding"; , , , , ; rdfs:label "Finding" . _:5808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinical, laboratory or molecular evidence, or absence of evidence of disease."; "NCI" . _:5809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A meaningful interpretation of data or observations resulting from planned evaluations. Compare to conclusion, hypothesis."; "CDISC-GLOSS" . _:580ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finding"; "DN"; "CTRP" . _:580bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finding"; "PT"; "CTRP" . _:580cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finding"; "PT"; "NCI" . _:580dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finding"; "PT"; "NICHD" . _:580ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Observable Entity"; "SY"; "NICHD" . _:580fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "finding"; "PT"; "CDISC-GLOSS" . a owl:Class; rdfs:subClassOf ; "A term that refers to the classification of a clinical or laboratory finding according to the anatomic site or system that is involved."; "C36278"; "Finding"; "Finding by Site or System"; "C1333618"; "Header_Concept"; "Finding_by_Site_or_System"; "Finding by Site or System"; rdfs:label "Finding by Site or System" . _:5810d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A term that refers to the classification of a clinical or laboratory finding according to the anatomic site or system that is involved."; "NCI" . _:5811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finding by Site or System"; "HD"; "NCI" . a owl:Class; rdfs:subClassOf ; "Symptoms, physical examination results, and/or laboratory test results related to the reproductive system."; ; "C36284"; "Finding"; "Reproductive System Finding"; "C1335757"; "CDISC", "NICHD"; "Symptoms, physical examination results, and/or laboratory test results related to the reproductive system. (NCI)"; "Reproductive_System_Finding"; "Reproductive System Finding"; "REPRODUCTIVE SYSTEM", "Reproductive System Finding"; , , , ; rdfs:label "Reproductive System Finding" . _:5817d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Symptoms, physical examination results, and/or laboratory test results related to the reproductive system."; "NCI" . _:5818d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Symptoms, physical examination results, and/or laboratory test results related to the reproductive system. (NCI)"; "CDISC" . _:5819d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REPRODUCTIVE SYSTEM"; "PT"; "CDISC" . _:581ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reproductive System Finding"; "PT"; "NCI" . _:581bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reproductive System Finding"; "PT"; "NICHD" . a owl:Class; rdfs:subClassOf ; "C36291"; "Finding"; "Finding by Cause"; "C1333617"; "Header_Concept"; "Finding_by_Cause"; "Finding by Cause"; rdfs:label "Finding by Cause" . _:581dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finding by Cause"; "HD"; "NCI" . a owl:Class; rdfs:subClassOf ; "A word or group of words indicating a person's first (personal or given) name; the name that precedes the surname."; "C40974"; "Organism Attribute"; "First Name"; "C1443235"; "First_Name"; "First Name", "Forename", "Given Name"; rdfs:label "First Name" . _:5821d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A word or group of words indicating a person's first (personal or given) name; the name that precedes the surname."; "NCI" . _:5822d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "First Name"; "PT"; "NCI" . _:5823d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Forename"; "SY"; "NCI" . _:5825d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Given Name"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network."; ; "C40978"; "Conceptual Entity"; "Telephone Number"; "C1515258"; "CDISC", "NICHD"; "A sequence of decimal digits (0-9) that is used for identifying a specific telephone line or other device in a telephone network."; "Telephone_Number"; "Telephone Number"; "Phone", "Phone Number", "Telephone", "Telephone Number"; , , , , ; rdfs:label "Telephone Number" . _:582dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network."; "NCI" . _:5831d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sequence of decimal digits (0-9) that is used for identifying a specific telephone line or other device in a telephone network."; "CDISC" . _:5832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phone"; "SY"; "NCI" . _:5833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phone Number"; "SY"; "CDISC" . _:5834d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phone Number"; "SY"; "NCI" . _:5835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Telephone"; "SY"; "NCI" . _:5836d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Telephone Number"; "PT"; "CDISC" . _:5837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Telephone Number"; "PT"; "NCI" . _:5838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Telephone Number"; "PT"; "NICHD" . a owl:Class; rdfs:subClassOf ; "A term that helps define and render a concept unique."; "C41009"; "Conceptual Entity"; "Qualifier"; "C1514623"; "Qualifier"; "Modifier", "Qualifier"; rdfs:label "Qualifier" . _:5839d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A term that helps define and render a concept unique."; "NCI" . _:583ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Modifier"; "SY"; "NCI" . _:583bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Qualifier"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Any of the individuals who are descended from a common progenitor, related by marriage or other legal tie, or by a feeling of closeness."; "C41256"; "Human"; "Family Member"; "C0086282"; "CDISC"; "Any of the individuals who are descended from a common progenitor, related by marriage or other legal tie."; "Family_Member"; "FAMILY MEMBER", "Family Member"; , , , ; rdfs:label "Family Member" . _:583cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any of the individuals who are descended from a common progenitor, related by marriage or other legal tie, or by a feeling of closeness."; "NCI" . _:583dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any of the individuals who are descended from a common progenitor, related by marriage or other legal tie."; "CDISC" . _:583ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAMILY MEMBER"; "PT"; "CDISC" . _:583fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Family Member"; "PT"; "NCI" . _:5840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Family Member"; "SY"; "CDISC" . _:5842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Family Member"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "C42568"; "Classification"; "Unit by Category"; "C1710551"; "Header_Concept"; "Unit_by_Category"; "Unit by Category"; rdfs:label "Unit by Category" . _:5846d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit by Category"; "HD"; "NCI" . a owl:Class; rdfs:subClassOf ; "An indication of the type of unit of measure being used to express a time."; "C42574"; "Quantitative Concept"; "Unit of Time"; "C0439221"; "Header_Concept"; "Unit_of_Time"; "Time Unit", "Unit of Time"; rdfs:label "Unit of Time" . _:584cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An indication of the type of unit of measure being used to express a time."; "NCI" . _:584ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Time Unit"; "SY"; "NCI" . _:5850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit of Time"; "HD"; "NCI" . a owl:Class; rdfs:subClassOf ; "The words or language units by which a thing is known."; "C42614"; "Conceptual Entity"; "Name"; "C0027365"; "BRIDG"; "Name_Generic_Concept"; "Name", "name"; , ; rdfs:label "Name" . _:5854d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The words or language units by which a thing is known."; "NCI" . _:5855d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Name"; "PT"; "NCI" . _:5857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Name"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "name"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "A mother or a father; an immediate progenitor."; "C42709"; "Human"; "Parent"; "C0030551"; "CDISC", "FDA"; "A mother or a father."; "Parent"; "Natural Parent", "Parent"; "PARENT", "Parent", "Parental"; , , , , , ; rdfs:label "Parent" . _:585ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A mother or a father; an immediate progenitor."; "NCI" . _:585fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A mother or a father."; "CDISC" . _:5860d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Parent"; "Related To"; "PT"; "RT"; "GDC" . _:5861d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parent"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5862d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PARENT"; "PT"; "CDISC" . _:5863d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parent"; "PT"; "FDA"; "ICSR" . _:5867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parent"; "PT"; "NCI" . _:586ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parent"; "SY"; "NCI"; "TCGA"; "caDSR" . _:586cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parental"; "AD"; "NCI" . a owl:Class; rdfs:subClassOf ; "A text string identifier for a location to which e-mail can be delivered."; "C42775"; "Intellectual Product"; "E-mail Address"; "C1705961"; "CDISC"; "A text string identifier for a location to which electronic mail can be delivered. (NCI)"; "Email_Address"; "E-mail", "E-mail Address", "Electronic Mail Address", "Email", "Email Address"; , , ; rdfs:label "E-mail Address" . _:5874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A text string identifier for a location to which e-mail can be delivered."; "NCI" . _:5876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A text string identifier for a location to which electronic mail can be delivered. (NCI)"; "CDISC" . _:5878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "E-mail"; "SY"; "NCI" . _:587bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "E-mail Address"; "PT"; "CDISC" . _:587dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "E-mail Address"; "PT"; "NCI" . _:5882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Electronic Mail Address"; "SY"; "NCI" . _:588ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Email"; "SY"; "NCI" . _:588cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Email Address"; "SY"; "CDISC" . _:588ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Email Address"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "An active process; excludes processes and mechanisms which fulfill biological functions."; "C43431"; "Activity"; "Activity"; "C0441655"; "BRIDG"; "Any action that can, in the context of a study or a post-marketing investigation, be defined, planned, scheduled or performed. EXAMPLE(S): surgical procedure, laboratory test, administration of a drug."; "Activity"; "Activity", "General activity"; , , ; rdfs:label "Activity" . _:588fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An active process; excludes processes and mechanisms which fulfill biological functions."; "NCI" . _:5890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any action that can, in the context of a study or a post-marketing investigation, be defined, planned, scheduled or performed. EXAMPLE(S): surgical procedure, laboratory test, administration of a drug."; "BRIDG 3.0.3" . _:5891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Activity"; "PT"; "BRIDG 3.0.3" . _:5892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Activity"; "PT"; "NCI" . _:5893d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Activity"; "SY"; "NCI"; "MPN-SAF"; "caDSR" . _:5894d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "General activity"; "SY"; "NCI"; "MDASI-HN"; "caDSR" . a owl:Class; rdfs:subClassOf ; "Knowledge derived from study, experience, or instruction that has been gathered or received by communication."; "C48191"; "Conceptual Entity"; "Information"; "CL448704"; "Information"; "Info", "Information"; rdfs:label "Information" . _:589cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Knowledge derived from study, experience, or instruction that has been gathered or received by communication."; "NCI" . _:589ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Info"; "SY"; "NCI" . _:58a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Information"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A statement (either spoken or written) that is made in reply to a question or request or criticism or accusation; a statement that solves a problem or explains how to solve the problem."; "C49149"; "Intellectual Product"; "Answer"; "C1706817"; "Answer"; "Answer", "Response"; rdfs:label "Answer" . _:58a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A statement (either spoken or written) that is made in reply to a question or request or criticism or accusation; a statement that solves a problem or explains how to solve the problem."; "NCI" . _:58a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Answer"; "PT"; "NCI" . _:58a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Answer"; "SY"; "NCI"; "TCGA"; "caDSR" . _:58abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Response"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "The non-affirmative response to a question."; ; "C49487"; "Classification"; "No"; "C1298908"; "CDISC", "CPTAC", "FDA", "NICHD"; "The non-affirmative response to a question. (NCI)"; "No"; "No"; "No", "no"; "N", "NO", "No"; , , , , , , , , , , , , , , , , , ; rdfs:label "No" . _:58b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The non-affirmative response to a question."; "NCI" . _:58b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The non-affirmative response to a question. (NCI)"; "CDISC" . _:58bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "AABS"; "GDC" . _:58bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "AAEI"; "GDC" . _:58bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "AEXP"; "GDC" . _:58bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "AH"; "GDC" . _:58c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "AP"; "GDC" . _:58c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "BEGCP"; "GDC" . _:58c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "DPC"; "GDC" . _:58c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "ECMP"; "GDC" . _:58cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "GCCMP"; "GDC" . _:58cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "GEJI"; "GDC" . _:58ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "HSVR"; "GDC" . _:58cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "LIP"; "GDC" . _:58ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "LTF"; "GDC" . _:58cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "MMRMUT"; "GDC" . _:58d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "NTGSNPM"; "GDC" . _:58d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "PB"; "GDC" . _:58d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "PIP"; "GDC" . _:58d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "PR"; "GDC" . _:58d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "PT"; "GDC" . _:58d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "RE"; "GDC" . _:58d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "RFT"; "GDC" . _:58dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "SM"; "GDC" . _:58ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "TCOO"; "GDC" . _:58e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "Has Synonym"; "PT"; "VIP"; "GDC" . _:58e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "no"; "Has Synonym"; "PT"; "PM"; "GDC" . _:58e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "no"; "Has Synonym"; "PT"; "PR"; "GDC" . _:58ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "no"; "Has Synonym"; "PT"; "RCH"; "GDC" . _:58edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "no"; "Has Synonym"; "PT"; "TOT"; "GDC" . _:58eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "N"; "PT"; "CDISC" . _:58f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NO"; "PT"; "FDA"; "ICSR" . _:58f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "PT"; "CPTAC" . _:58f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "PT"; "FDA"; "PQCMC" . _:58f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "PT"; "NCI" . _:58fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "PT"; "NICHD" . _:58fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "SY"; "CDISC" . _:58fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "SY"; "NCI"; "LASA"; "caDSR" . _:58fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "SY"; "NCI"; "LBCQ"; "caDSR" . _:58fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "SY"; "NCI"; "MDASI-HN"; "caDSR" . _:58ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "SY"; "NCI"; "NCCN DT"; "caDSR" . _:5902d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "No"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "Those units of time that are routinely used to express the age of a person or thing."; "C50400"; "Classification"; "Age Unit"; "C1706749"; "CDISC"; "Those units of time that are routinely used to express the age of a person. (NCI)"; "Age_Units"; "AGEU", "Age Unit", "Unit of Age"; , , , , , ; rdfs:label "Age Unit" . _:5909d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Those units of time that are routinely used to express the age of a person or thing."; "NCI" . _:590ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Those units of time that are routinely used to express the age of a person. (NCI)"; "CDISC" . _:590dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGEU"; "PT"; "CDISC"; "SDTM-VARIABLE" . _:590ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGEU"; "PT"; "CDISC"; "SEND-STSPRMCD" . _:590fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age Unit"; "PT"; "CDISC"; "SEND-STSPRM" . _:5910d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age Unit"; "PT"; "NCI" . _:5911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age Unit"; "SY"; "CDISC" . _:5912d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unit of Age"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "Care necessary to treat acute pain, infection, bleeding, or trauma."; "C52641"; "Health Care Activity"; "Emergency Care"; "C0013969"; "Emergency_Care"; "Emergency Care"; rdfs:label "Emergency Care" . _:5915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Care necessary to treat acute pain, infection, bleeding, or trauma."; "NCI" . _:5917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Emergency Care"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "Remain in force or carry on without letup; keep or maintain in unaltered condition; exist in time or space without stop or interruption."; "C53279"; "Qualitative Concept"; "Continue"; "C0439598"; "CDISC", "FDA"; "Remain in force or carry on without letup; keep or maintain in unaltered condition; exist in time or space without stop or interruption. (NCI)"; "Continuous"; "CONTINUOUS", "Continual", "Continue", "Continued", "Continuing", "Continuous", "ONGO", "ONGOING", "Ongoing"; , , , , , , , ; rdfs:label "Continue" . _:591ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Remain in force or carry on without letup; keep or maintain in unaltered condition; exist in time or space without stop or interruption."; "NCI" . _:5920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Remain in force or carry on without letup; keep or maintain in unaltered condition; exist in time or space without stop or interruption. (NCI)"; "CDISC" . _:5921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CONTINUOUS"; "PT"; "CDISC"; "SDTM-FREQ" . _:5923d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Continual"; "SY"; "NCI" . _:5925d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Continue"; "PT"; "NCI" . _:5928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Continue"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5929d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Continued"; "AD"; "NCI" . _:592cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Continuing"; "AD"; "NCI" . _:592fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Continuous"; "AD"; "NCI" . _:5930d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Continuous"; "SY"; "CDISC" . _:5933d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONGO"; "PT"; "CDISC"; "CDISC-OBSCLS" . _:5934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONGOING"; "PT"; "CDISC"; "ADaM-SBJTSTAT" . _:5936d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONGOING"; "PT"; "CDISC"; "SDTM-STENRF" . _:5937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ongoing"; "AD"; "NCI" . _:5939d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ongoing"; "PT"; "FDA"; "ICSR-CVM" . a owl:Class; rdfs:subClassOf ; "To meet the requirements under law; not in violation of law or anything related to the law."; "C54074"; "Qualitative Concept"; "Legal"; "C1301860"; "Legal"; "Legal"; rdfs:label "Legal" . _:593ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "To meet the requirements under law; not in violation of law or anything related to the law."; "NCI" . _:593bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Legal"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A unique identification number for health care services, supplies, and equipment providers in the United States. NPI is assigned for use in all administrative and financial transactions specified by HIPAA. NPI is issued by the National Plan and Provider Enumeration System (NPPES) and is 10-position, all-numeric identification number with no embedded intelligence."; "C54633"; "Classification"; "National Provider Identifier"; "C1549728"; "National_Provider_Identifier"; "NPI", "National Provider Identifier"; rdfs:label "National Provider Identifier" . _:593cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A unique identification number for health care services, supplies, and equipment providers in the United States. NPI is assigned for use in all administrative and financial transactions specified by HIPAA. NPI is issued by the National Plan and Provider Enumeration System (NPPES) and is 10-position, all-numeric identification number with no embedded intelligence."; "NCI" . _:593ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPI"; "AB"; "NCI" . _:5940d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "National Provider Identifier"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "The act of receiving professional guidance in resolving personal conflicts and emotional problems."; "C61547"; "Health Care Activity"; "Counseling"; "Counseling"; "C0010210"; "CTRP"; "The process by which a professional counselor helps a person cope with mental or emotional distress, and understand and solve personal problems."; "Counseling"; "Counseling", "Counseling Intervention", "counseling"; , ; rdfs:label "Counseling" . _:5948d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The act of receiving professional guidance in resolving personal conflicts and emotional problems."; "NCI" . _:5949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The process by which a professional counselor helps a person cope with mental or emotional distress, and understand and solve personal problems."; "NCI-GLOSS" . _:594ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Counseling"; "DN"; "CTRP" . _:594bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Counseling"; "PT"; "NCI" . _:5950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Counseling Intervention"; "SY"; "NCI" . _:5951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "counseling"; "PT"; "NCI-GLOSS"; "CDR0000450098" . a owl:Class; rdfs:subClassOf ; "Each individual, unique interaction between two subjects of interest."; "C62143"; "Conceptual Entity"; "Encounter"; "C1947978"; "Encounter"; "Encounter"; rdfs:label "Encounter" . _:5954d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Each individual, unique interaction between two subjects of interest."; "NCI" . _:5956d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Encounter"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A person's partner in marriage."; "C62649"; "Human"; "Spouse"; "C0162409"; "CDISC"; "A person's partner in marriage. (NCI)"; "Spouse"; "Spouse"; "SPOUSE", "Spouse"; , , , ; rdfs:label "Spouse" . _:5959d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's partner in marriage."; "NCI" . _:595ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's partner in marriage. (NCI)"; "CDISC" . _:595bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spouse"; "Has Synonym"; "PT"; "RT"; "GDC" . _:595cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPOUSE"; "PT"; "CDISC" . _:595dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spouse"; "PT"; "NCI" . _:595ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spouse"; "SY"; "CDISC" . _:595fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spouse"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "The use of behavioral conditioning, counseling, and/or education to prevent or treat disease."; "C63474"; "Health Care Activity"; "Behavioral, Psychological or Informational Intervention"; "Behavioral, Psychological or Informational Intervention"; "C1879796"; "CTRP"; "Behavioral_Educational_Psychological_Intervention"; "Behavioral, Psychological or Informational Intervention"; , ; rdfs:label "Behavioral, Psychological or Informational Intervention" . _:5960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The use of behavioral conditioning, counseling, and/or education to prevent or treat disease."; "NCI" . _:5962d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Behavioral, Psychological or Informational Intervention"; "DN"; "CTRP" . _:597bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Behavioral, Psychological or Informational Intervention"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "The length of the closed curve of a circle; the size of something as given by the distance around it."; "C64265"; "Spatial Concept"; "Circumference"; "C0332520"; "CDISC", "FDA"; "The length of the closed curve of a circle; the size of something as given by the distance around it. (NCI)"; "Circumference"; "CIRCUMF", "Circumference", "Circumferential"; , , , , ; rdfs:label "Circumference" . _:597ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The length of the closed curve of a circle; the size of something as given by the distance around it."; "NCI" . _:597fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The length of the closed curve of a circle; the size of something as given by the distance around it. (NCI)"; "CDISC" . _:5980d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CIRCUMF"; "PT"; "CDISC"; "SEND-FMTESTCD" . _:5981d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Circumference"; "PT"; "CDISC"; "SEND-FMTEST" . _:5982d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Circumference"; "PT"; "FDA"; "CDRH-GUDID" . _:5984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Circumference"; "PT"; "NCI" . _:5985d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Circumference"; "SY"; "CDISC" . _:5987d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Circumferential"; "AD"; "NCI" . a owl:Class; rdfs:subClassOf ; "The affected family member who seeks medical attention for a genetic disorder thereby bringing the family under study."; "C64435"; "Human"; "Proband"; "C1948021"; "The individual through whom a family with a genetic disorder is ascertained. In males this is called a propositus, and in females it is called a proposita."; "Proband"; "Proband", "proband"; rdfs:label "Proband" . _:598ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The affected family member who seeks medical attention for a genetic disorder thereby bringing the family under study."; "NCI" . _:598cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The individual through whom a family with a genetic disorder is ascertained. In males this is called a propositus, and in females it is called a proposita."; "NCI-GLOSS" . _:598dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Proband"; "PT"; "NCI" . _:598fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proband"; "PT"; "NCI-GLOSS"; "CDR0000460211" . a owl:Class; rdfs:subClassOf ; "C64913"; "Activity"; "Instruction Imperative"; "C1881219"; "Instruction_Imperative"; "Instruction Imperative"; rdfs:label "Instruction Imperative" . _:5996d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Instruction Imperative"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A condition that is relevant to human neoplasms and non-neoplastic disorders. This includes observations, test results, history and other concepts relevant to the characterization of human pathologic conditions."; "C7057"; "Conceptual Entity"; "Disease, Disorder or Finding"; "C1511989"; "Diseases_Disorders_and_Findings"; "Disease, Disorder or Finding"; rdfs:label "Disease, Disorder or Finding" . _:5999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition that is relevant to human neoplasms and non-neoplastic disorders. This includes observations, test results, history and other concepts relevant to the characterization of human pathologic conditions."; "NCI" . _:599bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disease, Disorder or Finding"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A set of characters used as a code that is unique in the context or the system for which it is created. It serves as a means of identification and reference (often instead of a name) for an entity, person, thing, function, procedure, activity, variable, or body of data."; "C70663"; "Intellectual Product"; "Unique Identifier"; "C2349022"; "Unique_Identifier"; "UI", "UID", "Unique Identifier"; rdfs:label "Unique Identifier" . _:59a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A set of characters used as a code that is unique in the context or the system for which it is created. It serves as a means of identification and reference (often instead of a name) for an entity, person, thing, function, procedure, activity, variable, or body of data."; "NCI" . _:59a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UI"; "AB"; "NCI" . _:59a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UID"; "AB"; "NCI" . _:59a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unique Identifier"; "PT"; "NCI" . _:59abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unique Identifier"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "The value for a particular telecommunication address used as the contact telecommunication information for a person or organization."; "C70806"; "Classification"; "Telecommunication Address"; "C1552673"; "BRIDG"; "Telecommunication_Address"; "Telecommunication Address", "telecomAddress"; , ; rdfs:label "Telecommunication Address" . _:59b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The value for a particular telecommunication address used as the contact telecommunication information for a person or organization."; "NCI" . _:59b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Telecommunication Address"; "PT"; "NCI" . _:59b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "telecomAddress"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "A person related by lineage through the father's side of the family."; "C71382"; "Human"; "Paternal Relative"; "C2347452"; "Paternal_Relative"; "Paternal", "Paternal Relative"; rdfs:label "Paternal Relative" . _:59bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person related by lineage through the father's side of the family."; "NCI" . _:59bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal"; "SY"; "NCI" . _:59c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Relative"; "PT"; "NCI" . _:59c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Relative"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A person related by lineage through the mother's side of the family."; "C71383"; "Human"; "Maternal Relative"; "C2347083"; "Maternal_Relative"; "Maternal", "Maternal Relative"; rdfs:label "Maternal Relative" . _:59c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person related by lineage through the mother's side of the family."; "NCI" . _:59c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal"; "SY"; "NCI" . _:59cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal Relative"; "PT"; "NCI" . _:59cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal Relative"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A person related by descent rather than by marriage or law."; "C71384"; "Human"; "Biological Relative"; "C1266852"; "CDISC"; "An individual that shares genetic makeup with another individual.", "Genetic relatedness between individuals who are descendants of at least one common ancestor."; "Biological_Relative"; "BIOLOGICALLY RELATED", "Biological Relative", "Blood Relation", "Blood Relative", "Natural Relative", "consanguinity"; , , ; rdfs:label "Biological Relative" . _:59ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person related by descent rather than by marriage or law."; "NCI" . _:59d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An individual that shares genetic makeup with another individual."; "CDISC" . _:59d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic relatedness between individuals who are descendants of at least one common ancestor."; "NCI-GLOSS" . _:59d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIOLOGICALLY RELATED"; "PT"; "CDISC" . _:59d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Relative"; "PT"; "NCI" . _:59d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Relative"; "SY"; "NCI"; "TCGA"; "caDSR" . _:59dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Relative"; "SY"; "NCI"; "caDSR" . _:59ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blood Relation"; "SY"; "NCI" . _:59ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blood Relative"; "SY"; "NCI" . _:59dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Relative"; "SY"; "NCI" . _:59e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "consanguinity"; "PT"; "NCI-GLOSS"; "CDR0000460138" . a owl:Class; rdfs:subClassOf ; "A parent of your father or mother."; "C71385"; "Human"; "Grandparent"; "C0337471"; "Grandparent"; "Grandparent"; "Grandparent"; rdfs:label "Grandparent" . _:59e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A parent of your father or mother."; "NCI" . _:59e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandparent"; "Has Synonym"; "PT"; "RT"; "GDC" . _:59e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandparent"; "PT"; "NCI" . _:59e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandparent"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "The mother of your father or mother."; "C71386"; "Human"; "Grandmother"; "C0337474"; "Grandmother"; "Grandmother"; "Grandmother"; rdfs:label "Grandmother" . _:59e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The mother of your father or mother."; "NCI" . _:59e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandmother"; "Has Synonym"; "PT"; "RT"; "GDC" . _:59e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandmother"; "PT"; "NCI" . _:59e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandmother"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "The father of your father or mother."; "C71387"; "Human"; "Grandfather"; "C0337475"; "Grandfather"; "Grandfather"; "Grandfather"; rdfs:label "Grandfather" . _:59efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The father of your father or mother."; "NCI" . _:59f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandfather"; "Has Synonym"; "PT"; "RT"; "GDC" . _:59f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandfather"; "PT"; "NCI" . _:59f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandfather"; "SY"; "NCI"; "TCGA"; "caDSR" . _:59f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandfather"; "SY"; "NCI"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A relative separated by two generations."; "C71388"; "Human"; "Grand Relative"; "C2348890"; "Grand_Relative"; "Grand Nephew", "Grand Niece"; "Grand Relation", "Grand Relative"; rdfs:label "Grand Relative" . _:59fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative separated by two generations."; "NCI" . _:59fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grand Nephew"; "Related To"; "PT"; "RT"; "GDC" . _:59ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grand Niece"; "Related To"; "PT"; "RT"; "GDC" . _:5a01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grand Relation"; "SY"; "NCI" . _:5a03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grand Relative"; "PT"; "NCI" . _:5a05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grand Relative"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf , ; "A sibling with whom you share a single parent."; "C71391"; "Human"; "Half Sibling"; "C0337505"; "CDISC"; "A person's brother or sister who has one parent in common.", "A person's brother or sister with whom they share a genetic makeup inherited from one of their shared biological parents."; "Half_Sibling"; "Half Sibling", "Maternal Half Sibling", "Paternal Half Sibling"; "Half Relation", "Half Relative", "Half Sibling", "SIBLING, HALF", "half-sibling"; , , ; rdfs:label "Half Sibling" . _:5a08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sibling with whom you share a single parent."; "NCI" . _:5a09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's brother or sister who has one parent in common."; "NCI-GLOSS" . _:5a0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A person's brother or sister with whom they share a genetic makeup inherited from one of their shared biological parents."; "CDISC" . _:5a0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Sibling"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal Half Sibling"; "Related To"; "PT"; "RT"; "GDC" . _:5a0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Half Sibling"; "Related To"; "PT"; "RT"; "GDC" . _:5a0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Relation"; "SY"; "NCI" . _:5a0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Relative"; "SY"; "NCI" . _:5a10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Sibling"; "PT"; "NCI" . _:5a11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Sibling"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5a12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIBLING, HALF"; "PT"; "CDISC" . _:5a13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "half-sibling"; "PT"; "NCI-GLOSS"; "CDR0000616713" . a owl:Class; rdfs:subClassOf , ; "A child of your son or daughter."; "C71397"; "Human"; "Grandchild"; "C0337548"; "Grandchild"; "Grandchild", "Great Grandchild"; "Grandchild"; rdfs:label "Grandchild" . _:5a16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A child of your son or daughter."; "NCI" . _:5a17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandchild"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Great Grandchild"; "Related To"; "PT"; "RT"; "GDC" . _:5a1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandchild"; "PT"; "NCI" . _:5a1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandchild"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A male grandchild."; "C71398"; "Human"; "Grandson"; "C0337573"; "Grandson"; "Grandson"; "Grandson"; rdfs:label "Grandson" . _:5a20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male grandchild."; "NCI" . _:5a22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandson"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Grandson"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "A female grandchild."; "C71399"; "Human"; "Granddaughter"; "C0337561"; "Granddaughter"; "Granddaughter"; "Granddaughter"; rdfs:label "Granddaughter" . _:5a2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female grandchild."; "NCI" . _:5a2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Granddaughter"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Granddaughter"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf , ; "A male sibling with whom you share a single parent."; "C71402"; "Human"; "Half Brother"; "C0337531"; "CDISC"; "A male who shares with his sibling the genetic makeup inherited from only one of the biological parents."; "Half_Brother"; "Half Brother"; "BROTHER, HALF", "Half Brother", "Half-brother"; , , ; rdfs:label "Half Brother" . _:5a3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male sibling with whom you share a single parent."; "NCI" . _:5a3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male who shares with his sibling the genetic makeup inherited from only one of the biological parents."; "CDISC" . _:5a42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Brother"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BROTHER, HALF"; "PT"; "CDISC" . _:5a46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Brother"; "PT"; "NCI" . _:5a48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Brother"; "SY"; "CDISC" . _:5a4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Brother"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5a4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half-brother"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf , ; "A female sibling with whom you share a single parent."; "C71403"; "Human"; "Half Sister"; "C0337518"; "CDISC"; "A female who shares with her sibling the genetic makeup inherited from only one of the biological parents."; "Half_Sister"; "Half Sister"; "Half Sister", "Half-sister", "SISTER, HALF"; , , ; rdfs:label "Half Sister" . _:5a4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female sibling with whom you share a single parent."; "NCI" . _:5a50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female who shares with her sibling the genetic makeup inherited from only one of the biological parents."; "CDISC" . _:5a51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Sister"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Sister"; "PT"; "NCI" . _:5a53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Sister"; "SY"; "CDISC" . _:5a55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half Sister"; "SY"; "NCI"; "TCGA"; "caDSR" . _:5a5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half-sister"; "SY"; "NCI" . _:5a5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SISTER, HALF"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf ; "A daughter of your brother or sister."; "C71408"; "Human"; "Niece"; "C0337578"; "Niece"; "Niece", "Niece Second Degree Relative"; "Niece"; rdfs:label "Niece" . _:5a65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A daughter of your brother or sister."; "NCI" . _:5a66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niece"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niece Second Degree Relative"; "Related To"; "PT"; "RT"; "GDC" . _:5a68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niece"; "PT"; "NCI" . _:5a69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niece"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A son of your brother or sister."; "C71409"; "Human"; "Nephew"; "C0337579"; "Nephew"; "Nephew"; "Nephew"; rdfs:label "Nephew" . _:5a6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A son of your brother or sister."; "NCI" . _:5a6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nephew"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nephew"; "PT"; "NCI" . _:5a6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nephew"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A child of your aunt or uncle or their descendents."; "C71410"; "Human"; "Cousin"; "C0337580"; "Cousin"; "Cousin", "Female Cousin", "Male Cousin", "Maternal First Cousin", "Paternal First Cousin"; "Cousin"; rdfs:label "Cousin" . _:5a91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A child of your aunt or uncle or their descendents."; "NCI" . _:5a93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cousin"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5a94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Female Cousin"; "Related To"; "PT"; "RT"; "GDC" . _:5a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male Cousin"; "Related To"; "PT"; "RT"; "GDC" . _:5a98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal First Cousin"; "Related To"; "PT"; "RT"; "GDC" . _:5a9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal First Cousin"; "Related To"; "PT"; "RT"; "GDC" . _:5a9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cousin"; "PT"; "NCI" . _:5a9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cousin"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf , ; "A child of your aunt or uncle."; "C71411"; "Human"; "First Cousin"; "C0337583"; "First_Cousin"; "First Cousin"; "First Cousin"; rdfs:label "First Cousin" . _:5a9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A child of your aunt or uncle."; "NCI" . _:5aa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "First Cousin"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5aa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "First Cousin"; "PT"; "NCI" . _:5aa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "First Cousin"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A female partner in marriage."; "C71587"; "Human"; "Wife"; "C0242665"; "CDISC"; "A female partner in marriage."; "Wife"; "Wife"; "WIFE", "Wife"; , , ; rdfs:label "Wife" . _:5aaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female partner in marriage."; "NCI" . _:5aabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female partner in marriage."; "CDISC" . _:5aacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wife"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5aafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WIFE"; "PT"; "CDISC" . _:5ab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wife"; "PT"; "NCI" . _:5ab1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wife"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "A male partner in marriage."; "C71588"; "Human"; "Husband"; "C0242664"; "CDISC"; "A male partner in marriage. (NCI)"; "Husband"; "Husband"; "HUSBAND", "Husband"; , , ; rdfs:label "Husband" . _:5ab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male partner in marriage."; "NCI" . _:5ab4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male partner in marriage. (NCI)"; "CDISC" . _:5ab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Husband"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5ab6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUSBAND"; "PT"; "CDISC" . _:5ab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Husband"; "PT"; "NCI" . _:5ab8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Husband"; "SY"; "NCI"; "TCGA"; "caDSR" . a owl:Class; rdfs:subClassOf ; "The first weight of a newborn obtained after birth."; ; "C76325"; "Quantitative Concept"; "Birth Weight"; "C0005612"; "NICHD"; "A measured weight of a newborn obtained immediately or shortly after birth."; "Birth_Weight_New"; "Birth Weight"; "Birth Weight"; , , ; rdfs:label "Birth Weight" . _:5ac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The first weight of a newborn obtained after birth."; "NCI" . _:5ac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A measured weight of a newborn obtained immediately or shortly after birth."; "NICHD" . _:5ac3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birth Weight"; "PT"; "NCI" . _:5ac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birth Weight"; "PT"; "NICHD" . a owl:Class; rdfs:subClassOf ; "The process of enrolling, enlisting, or adding individuals to a group."; "C78343"; "Activity"; "Recruitment"; "C2949735"; "CDISC-GLOSS"; "Process used by investigators to find and enroll appropriate subjects (those selected on the basis of the protocol's inclusion and exclusion criteria) into a clinical study."; "Recruitment"; "Recruitment", "recruitment (subjects)"; , ; rdfs:label "Recruitment" . _:5ac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The process of enrolling, enlisting, or adding individuals to a group."; "NCI" . _:5acbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Process used by investigators to find and enroll appropriate subjects (those selected on the basis of the protocol's inclusion and exclusion criteria) into a clinical study."; "CDISC-GLOSS" . _:5accd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Recruitment"; "PT"; "NCI" . _:5aced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "recruitment (subjects)"; "PT"; "CDISC-GLOSS" . a owl:Class; rdfs:subClassOf ; "The circumstance or condition that results in the death of a living being."; ; "C81239"; "Finding"; "Cause of Death"; "C0007465"; "CDISC", "CPTAC", "NICHD"; "The circumstance or condition that results in the death of a living being. (NCI)"; "Cause_of_Death"; "Cause of Death"; "COD", "Cause of Death", "DEATHD", "Death Diagnosis"; , , , , , , , , , , , , , , , , , ; rdfs:label "Cause of Death" . _:5ad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The circumstance or condition that results in the death of a living being."; "NCI" . _:5ad9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The circumstance or condition that results in the death of a living being. (NCI)"; "CDISC" . _:5adbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COD"; "AB"; "NCI" . _:5adcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cause of Death"; "PT"; "CPTAC" . _:5addd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cause of Death"; "PT"; "NCI" . _:5aded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cause of Death"; "PT"; "NICHD" . _:5adfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEATHD"; "PT"; "CDISC"; "SEND-DDTESTCD" . _:5ae0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Death Diagnosis"; "PT"; "CDISC"; "SEND-DDTEST" . _:5ae1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Death Diagnosis"; "SY"; "CDISC" . a owl:Class; rdfs:subClassOf ; "A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows."; ; "C81255"; "Quantitative Concept"; "Head Circumference"; "C0262499"; "CDISC", "NICHD"; "A circumferential measurement of the head at the widest point.", "The widest measurement of the head, when it is measured at its occipitofrontal circumference."; "Head_Circumference"; "Head Circumference"; "HDCIRC", "Head Circumference", "Occipital-Frontal Circumference"; , , , , , , , , ; rdfs:label "Head Circumference" . _:5ae2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows."; "NCI" . _:5ae3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A circumferential measurement of the head at the widest point."; "CDISC" . _:5ae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The widest measurement of the head, when it is measured at its occipitofrontal circumference."; "NICHD" . _:5ae5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HDCIRC"; "PT"; "CDISC"; "SDTM-VSTESTCD" . _:5ae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Head Circumference"; "PT"; "CDISC"; "SDTM-VSTEST" . _:5aead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Head Circumference"; "PT"; "NCI" . _:5aebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Head Circumference"; "PT"; "NICHD" . _:5aeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Head Circumference"; "SY"; "CDISC" . _:5af0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Occipital-Frontal Circumference"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "A statement (either spoken or written) that is made in reply to a question, request, criticism, or accusation."; "C82658"; "Social Behavior"; "Communication Response"; "C2911692"; "Response_Communication"; "Communication Response", "Response"; rdfs:label "Communication Response" . _:5af4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A statement (either spoken or written) that is made in reply to a question, request, criticism, or accusation."; "NCI" . _:5af5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Communication Response"; "PT"; "NCI" . _:5af7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Response"; "SY"; "NCI" . a owl:Class; rdfs:subClassOf ; "Findings observed at the end of a pregnancy."; ; "C90491"; "Finding"; "Pregnancy Outcome"; "C0032972"; "NICHD"; "Pregnancy Outcome"; "Pregnancy Outcome"; ; rdfs:label "Pregnancy Outcome" . _:5afcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Findings observed at the end of a pregnancy."; "NCI" . _:5afed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pregnancy Outcome"; "PT"; "NCI" . _:5b00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pregnancy Outcome"; "PT"; "NICHD" . a owl:Class; rdfs:subClassOf ; "Data, facts or figures about an individual; the set of relevant items would depend on the use case."; ; "C90492"; "Conceptual Entity"; "Personal Information"; "C2983694"; "CDISC-GLOSS", "NICHD"; "Any information about an individual maintained by an agency (or group) including but not limited to, education, financial transactions, medical history, and criminal or employment history, which can be used to distinguish or trace an individual's identity, such as name, social security number, date and place of birth, mother's maiden name, biometric records, etc., including any other personal information that is linked or linkable to an individual. Used in US [NIST Special publication 800-122]"; "Personal Information"; "PII", "Personal Information", "Personally Identifiable Information", "personally identifiable information (PII)"; , , , ; rdfs:label "Personal Information" . _:5b05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Data, facts or figures about an individual; the set of relevant items would depend on the use case."; "NCI" . _:5b07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any information about an individual maintained by an agency (or group) including but not limited to, education, financial transactions, medical history, and criminal or employment history, which can be used to distinguish or trace an individual's identity, such as name, social security number, date and place of birth, mother's maiden name, biometric records, etc., including any other personal information that is linked or linkable to an individual. Used in US [NIST Special publication 800-122]"; "CDISC-GLOSS" . _:5b09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PII"; "AB"; "NCI" . _:5b0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Personal Information"; "PT"; "NCI" . _:5b0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Personal Information"; "PT"; "NICHD" . _:5b0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Personally Identifiable Information"; "SY"; "NCI" . _:5b13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "personally identifiable information (PII)"; "PT"; "CDISC-GLOSS" . a owl:Class; rdfs:subClassOf ; "Symptoms, signs, diagnostic examinations or a test results in a pregnant mother."; ; "C92720"; "Finding"; "Pregnancy Finding"; "C0559565"; "NICHD"; "Pregnancy Finding"; "Pregnancy Finding"; ; rdfs:label "Pregnancy Finding" . _:5b16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Symptoms, signs, diagnostic examinations or a test results in a pregnant mother."; "NCI" . _:5b18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pregnancy Finding"; "PT"; "NCI" . _:5b1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pregnancy Finding"; "PT"; "NICHD" . a owl:Class; rdfs:subClassOf ; "A gestation with more than one fertilized egg implanted as a viable fetus in the uterus."; "C92931"; "Organism Function"; "Multiple Pregnancy"; "C0032989"; "Multiple Pregnancy"; rdfs:label "Multiple Pregnancy" . _:5b1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A gestation with more than one fertilized egg implanted as a viable fetus in the uterus."; "NCI" . _:5b1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiple Pregnancy"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "The non-unique initials or abbreviated name used for identification."; "C93495"; "Intellectual Product"; "Acronym"; "C1956259"; "BRIDG", "CDISC-GLOSS"; "A word formed from the beginning letters (e.g., ANSI) or a combination of syllables and letters (e.g., MedDRA) of a name or phrase. NOTE: An acronym is usually pronounced as a word, not by speaking each letter individually. Compare to abbreviation"; "Acronym", "acronym"; , , , ; rdfs:label "Acronym" . _:5b20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The non-unique initials or abbreviated name used for identification."; "NCI" . _:5b21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A word formed from the beginning letters (e.g., ANSI) or a combination of syllables and letters (e.g., MedDRA) of a name or phrase. NOTE: An acronym is usually pronounced as a word, not by speaking each letter individually. Compare to abbreviation"; "CDISC-GLOSS" . _:5b22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Acronym"; "PT"; "NCI" . _:5b23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acronym"; "PT"; "BRIDG 3.0.3" . _:5b24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acronym"; "PT"; "CDISC-GLOSS" . a owl:Class; rdfs:subClassOf . a owl:Class; rdfs:subClassOf ; "A unique symbol that establishes identity of the place."; "C93993"; "Intellectual Product"; "Place Identifier"; "C2986191"; "BRIDG"; "A unique symbol that establishes identity of the place. EXAMPLE(S): The license plate number of an ambulance; An identifier for a bed in a hospital ward"; "Place Identifier", "Place.identifier"; , ; rdfs:label "Place Identifier" . _:5b29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A unique symbol that establishes identity of the place."; "NCI" . _:5b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A unique symbol that establishes identity of the place. EXAMPLE(S): The license plate number of an ambulance; An identifier for a bed in a hospital ward"; "BRIDG 3.0.3" . _:5b30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Place Identifier"; "PT"; "NCI" . _:5b31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Place.identifier"; "PT"; "BRIDG 3.0.3" . a owl:Class; rdfs:subClassOf ; "C94483"; "Human"; "Propositus"; "C0702110"; "The male individual through whom a family with a genetic disorder is ascertained. In females this is called a proposita."; "Propositus", "propositus"; rdfs:label "Propositus" . _:5b34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The male individual through whom a family with a genetic disorder is ascertained. In females this is called a proposita."; "NCI-GLOSS" . _:5b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Propositus"; "PT"; "NCI" . _:5b38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "propositus"; "PT"; "NCI-GLOSS"; "CDR0000460212" . a owl:Class; rdfs:subClassOf , ; "A male who shares with his sibling the genetic makeup inherited from one or both of their shared biological parents."; "C96570"; "Human"; "Biological Brother"; "C0337528"; "CDISC"; "A male who shares with his sibling the genetic makeup inherited from one or both of their shared biological parents."; "Natural Brother"; "BROTHER, BIOLOGICAL", "Biological Brother"; , , ; rdfs:label "Biological Brother" . _:5b41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male who shares with his sibling the genetic makeup inherited from one or both of their shared biological parents."; "NCI" . _:5b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male who shares with his sibling the genetic makeup inherited from one or both of their shared biological parents."; "CDISC" . _:5b45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Brother"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5b47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BROTHER, BIOLOGICAL"; "PT"; "CDISC" . _:5b48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Brother"; "PT"; "NCI" . _:5b49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Brother"; "SY"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A relative who is the offspring of a sibling of either of the biological parents, and who share a common ancestor."; "C96571"; "Human"; "Biological Cousin"; "C3272869"; "CDISC"; "A relative who is the offspring of a sibling of either of the biological parents, and who share a common ancestor. (NCI)"; "Biological Cousin", "COUSIN, BIOLOGICAL"; , , ; rdfs:label "Biological Cousin" . _:5b4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the offspring of a sibling of either of the biological parents, and who share a common ancestor."; "NCI" . _:5b4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the offspring of a sibling of either of the biological parents, and who share a common ancestor. (NCI)"; "CDISC" . _:5b4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Cousin"; "PT"; "NCI" . _:5b4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Cousin"; "SY"; "CDISC" . _:5b4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COUSIN, BIOLOGICAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A male relative who is the biological father of either the biological mother or the biological father."; "C96573"; "Human"; "Biological Grandfather"; "C0337477"; "CDISC"; "A male relative who is the biological father of either the biological mother or the biological father. (NCI)"; "Natural Grandfather"; "Biological Grandfather", "GRANDFATHER, BIOLOGICAL"; , , ; rdfs:label "Biological Grandfather" . _:5b54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male relative who is the biological father of either the biological mother or the biological father."; "NCI" . _:5b56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male relative who is the biological father of either the biological mother or the biological father. (NCI)"; "CDISC" . _:5b57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Grandfather"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5b5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Grandfather"; "PT"; "NCI" . _:5b5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Grandfather"; "SY"; "CDISC" . _:5b5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDFATHER, BIOLOGICAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A female relative who is the biological mother of either the biological mother or the biological father."; "C96574"; "Human"; "Biological Grandmother"; "C0337476"; "CDISC"; "A female relative who is the biological mother of either the biological mother or the biological father. (NCI)"; "Natural Grandmother"; "Biological Grandmother", "GRANDMOTHER, BIOLOGICAL"; , , ; rdfs:label "Biological Grandmother" . _:5b60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female relative who is the biological mother of either the biological mother or the biological father."; "NCI" . _:5b61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female relative who is the biological mother of either the biological mother or the biological father. (NCI)"; "CDISC" . _:5b62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Grandmother"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5b63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Grandmother"; "PT"; "NCI" . _:5b65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Grandmother"; "SY"; "CDISC" . _:5b67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDMOTHER, BIOLOGICAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf ; "A relative who is the offspring of a sibling of the biological mother and thus sharing a common ancestor."; "C96576"; "Human"; "Biological Maternal Cousin"; "C3272873"; "CDISC"; "A relative who is the offspring of a sibling of the biological mother and share a common ancestor."; "Maternal First Cousin"; "Biological Maternal Cousin", "COUSIN, BIOLOGICAL MATERNAL"; , , ; rdfs:label "Biological Maternal Cousin" . _:5b6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the offspring of a sibling of the biological mother and thus sharing a common ancestor."; "NCI" . _:5b70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the offspring of a sibling of the biological mother and share a common ancestor."; "CDISC" . _:5b71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal First Cousin"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5b73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Maternal Cousin"; "PT"; "NCI" . _:5b74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Maternal Cousin"; "SY"; "CDISC" . _:5b75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COUSIN, BIOLOGICAL MATERNAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A male relative who is the biological father of the biological mother."; "C96577"; "Human"; "Biological Maternal Grandfather"; "C3272874"; "CDISC"; "A male relative who is the biological father of the biological mother. (NCI)"; "Maternal Grandfather"; "Biological Maternal Grandfather", "GRANDFATHER, BIOLOGICAL MATERNAL"; , , ; rdfs:label "Biological Maternal Grandfather" . _:5b96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male relative who is the biological father of the biological mother."; "NCI" . _:5b98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male relative who is the biological father of the biological mother. (NCI)"; "CDISC" . _:5b9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal Grandfather"; "Related To"; "PT"; "RT"; "GDC" . _:5b9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Maternal Grandfather"; "PT"; "NCI" . _:5b9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Maternal Grandfather"; "SY"; "CDISC" . _:5ba1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDFATHER, BIOLOGICAL MATERNAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A female relative who is the biological mother of the biological mother."; "C96578"; "Human"; "Biological Maternal Grandmother"; "C3272875"; "CDISC"; "A female relative who is the biological mother of the biological mother. (NCI)"; "Maternal Grandmother"; "Biological Maternal Grandmother", "GRANDMOTHER, BIOLOGICAL MATERNAL"; , , ; rdfs:label "Biological Maternal Grandmother" . _:5ba6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female relative who is the biological mother of the biological mother."; "NCI" . _:5ba7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female relative who is the biological mother of the biological mother. (NCI)"; "CDISC" . _:5ba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maternal Grandmother"; "Related To"; "PT"; "RT"; "GDC" . _:5bacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Maternal Grandmother"; "PT"; "NCI" . _:5baed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Maternal Grandmother"; "SY"; "CDISC" . _:5bb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDMOTHER, BIOLOGICAL MATERNAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf ; "A relative who is the offspring of a sibling of the biological father and thus sharing a common ancestor."; "C96582"; "Human"; "Biological Paternal Cousin"; "C3272878"; "CDISC"; "A relative who is the offspring of a sibling of the biological father and share a common ancestor."; "Paternal First Cousin"; "Biological Paternal Cousin", "COUSIN, BIOLOGICAL PATERNAL"; , , ; rdfs:label "Biological Paternal Cousin" . _:5bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the offspring of a sibling of the biological father and thus sharing a common ancestor."; "NCI" . _:5bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A relative who is the offspring of a sibling of the biological father and share a common ancestor."; "CDISC" . _:5bb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal First Cousin"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5bbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Paternal Cousin"; "PT"; "NCI" . _:5bbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Paternal Cousin"; "SY"; "CDISC" . _:5bbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COUSIN, BIOLOGICAL PATERNAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A male relative who is the biological father of the biological father."; "C96583"; "Human"; "Biological Paternal Grandfather"; "C3272879"; "CDISC"; "A male relative who is the biological father of the biological father. (NCI)"; "Paternal Grandfather"; "Biological Paternal Grandfather", "GRANDFATHER, BIOLOGICAL PATERNAL"; , , ; rdfs:label "Biological Paternal Grandfather" . _:5bbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male relative who is the biological father of the biological father."; "NCI" . _:5bbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male relative who is the biological father of the biological father. (NCI)"; "CDISC" . _:5bc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Grandfather"; "Related To"; "PT"; "RT"; "GDC" . _:5bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Paternal Grandfather"; "PT"; "NCI" . _:5bc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Paternal Grandfather"; "SY"; "CDISC" . _:5bc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDFATHER, BIOLOGICAL PATERNAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A female relative who is the biological mother of the biological father."; "C96584"; "Human"; "Biological Paternal Grandmother"; "C3272880"; "CDISC"; "A female relative who is the biological mother of the biological father. (NCI)"; "Paternal Grandmother"; "Biological Paternal Grandmother", "GRANDMOTHER, BIOLOGICAL PATERNAL"; , , ; rdfs:label "Biological Paternal Grandmother" . _:5bcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female relative who is the biological mother of the biological father."; "NCI" . _:5bccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female relative who is the biological mother of the biological father. (NCI)"; "CDISC" . _:5bcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Grandmother"; "Related To"; "PT"; "RT"; "GDC" . _:5bced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Paternal Grandmother"; "PT"; "NCI" . _:5bcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Paternal Grandmother"; "SY"; "CDISC" . _:5bd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRANDMOTHER, BIOLOGICAL PATERNAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A female who shares with her sibling the genetic makeup inherited from one or both of their shared biological parents."; "C96586"; "Human"; "Biological Sister"; "C0337515"; "CDISC"; "A female who shares with her sibling the genetic makeup inherited from one or both of their shared biological parents."; "Natural Sister"; "Biological Sister", "SISTER, BIOLOGICAL"; , , ; rdfs:label "Biological Sister" . _:5bd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female who shares with her sibling the genetic makeup inherited from one or both of their shared biological parents."; "NCI" . _:5bd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female who shares with her sibling the genetic makeup inherited from one or both of their shared biological parents."; "CDISC" . _:5bd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Natural Sister"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5bd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Sister"; "PT"; "NCI" . _:5bd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biological Sister"; "SY"; "CDISC" . _:5bd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SISTER, BIOLOGICAL"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A male sibling who shares the genetic makeup inherited from only the biological father."; "C96655"; "Human"; "Half-brother with Father as Common Parent"; "C3272935"; "CDISC"; "A male who shares with his sibling the genetic makeup inherited from only the biological father."; "Paternal Half Brother"; "BROTHER, BIOLOGICAL PATERNAL HALF", "Half-brother with Father as Common Parent"; , , ; rdfs:label "Half-brother with Father as Common Parent" . _:5be1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male sibling who shares the genetic makeup inherited from only the biological father."; "NCI" . _:5be2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A male who shares with his sibling the genetic makeup inherited from only the biological father."; "CDISC" . _:5be3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Half Brother"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5be6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BROTHER, BIOLOGICAL PATERNAL HALF"; "PT"; "CDISC" . _:5be8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half-brother with Father as Common Parent"; "PT"; "NCI" . _:5bead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half-brother with Father as Common Parent"; "SY"; "CDISC" . a owl:Class; rdfs:subClassOf , ; "A female sibling who shares the genetic makeup inherited from only the biological father."; "C96657"; "Human"; "Half-sister with Father as Common Parent"; "C3272937"; "CDISC"; "A female who shares with her sibling the genetic makeup inherited from only the biological father."; "Paternal Half Sister"; "Half-sister with Father as Common Parent", "SISTER, BIOLOGICAL PATERNAL HALF"; , , ; rdfs:label "Half-sister with Father as Common Parent" . _:5bedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female sibling who shares the genetic makeup inherited from only the biological father."; "NCI" . _:5beed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A female who shares with her sibling the genetic makeup inherited from only the biological father."; "CDISC" . _:5befd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paternal Half Sister"; "Has Synonym"; "PT"; "RT"; "GDC" . _:5bf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half-sister with Father as Common Parent"; "PT"; "NCI" . _:5bf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Half-sister with Father as Common Parent"; "SY"; "CDISC" . _:5bf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SISTER, BIOLOGICAL PATERNAL HALF"; "PT"; "CDISC" . a owl:Class; rdfs:subClassOf ; "Creations of the mind, such as those created by musicians, authors, artists, and inventors."; "C97331"; "Intellectual Product"; "Intellectual Property"; "C0282574"; "Intellectual Product", "Intellectual Property"; rdfs:label "Intellectual Property" . _:5bf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Creations of the mind, such as those created by musicians, authors, artists, and inventors."; "NCI" . _:5bf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intellectual Product"; "SY"; "NCI" . _:5bf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intellectual Property"; "PT"; "NCI" . a owl:Class; rdfs:subClassOf ; "The first significant event which ultimately led to death."; "C99531"; "Finding"; "Primary Cause of Death"; "C3262229"; "CDISC"; "The primary significant event which ultimately led to death."; "PRCDTH", "Primary Cause of Death"; , , , ; rdfs:label "Primary Cause of Death" . _:5bfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The first significant event which ultimately led to death."; "NCI" . _:5bffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The primary significant event which ultimately led to death."; "CDISC" . _:5c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRCDTH"; "PT"; "CDISC"; "SDTM-DTHDXCD" . _:5c03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary Cause of Death"; "PT"; "CDISC"; "SDTM-DTHDX" . _:5c06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary Cause of Death"; "PT"; "NCI" . _:5c07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary Cause of Death"; "SY"; "CDISC" . a owl:Class; rdfs:subClassOf ; """A biobank is a collections of samples of biological substances (e.g. tissue, blood, DNA) which are linked to data about the samples and their donors. They have a dual nature as collections of samples and data."""@en; "Mathias Brochhausen"; "definition derived from the definition of 'human biobank', based on http://www.ethikrat.org/files/der_opinion_human-biobanks.pdf"@en; rdfs:label "biobank"@en . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; rdfs:label "BIOGEN Biobank" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The French National Registry for Rare Diseases is a national tool for epidemiology and public health purposes in the field of rare diseases (RD). The data collection is mandatory for all the Rare Disease expert centers at the national level. A minimum data set (MDS) of about 60 items is collected for all the rare disease expert centers patients. This MDS strongly inspired the Common Data Elements (CDE) promoted by the EUCERD, and later by the JRC, which will greatly facilitate interoperability."; "BNDMR"; rdfs:label "Banque Nationale de Données Maladies Rares" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Registry developed for ERN-EuroBloodNet aiming to monitor members' activity in terms of number of patients and engage clinical and basic research by the identification of trials cohorts."; rdfs:label "ESID" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The Central Registry of EUROCAT collects 96 variables from the member registries. At local level the registries can collect additional variables"; "EUROCAT CR"; rdfs:label "EUROCAT Central Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Redcap Registry is aimed to locate patients with Rare and complex epilepsies across 28 EpiCARE Centres"; rdfs:label "EpiCARE" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Registry developed for ERN-EuroBloodNet aiming to monitor members' activity in terms of number of patients and engage clinical and basic research by the identification of trials cohorts."; rdfs:label "EuroBloodNet Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Eurocat Northern Netherlands is a population-based congenital anomaly registrry covering the northern provinces of the Netherlands ((approximately 10% of all births in the Netherlands). Cases are identified by active case ascertainment, using multiple sources and are registered in the database after parental consent. Besides monitoring of prevalence of congenital anomalies, research focuses on risk factors for congenital anomalies, morbidity and mortality and prenatal screening/diagnosis."; "Eurocat NNL"; rdfs:label "Eurocat Northern Netherlands" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "In ERK-Reg members and partners of the European Rare Kidney Disease Registry (ERKNet) collect information from patients with rare kidney diseases. Data collection serves two main purposes: (i) to identify patient cohorts with defined rare kidney disorders for clinical research, and (ii) to monitor a set of disease group specific key performance and outcome indicators. The registry provides automated center statistics and benchmarking facilities."; "ERK-Reg"; rdfs:label "European Rare Kidney Disease Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The VASCA registry is the registry for Rare Vascular Anomalies, in the scope of VASCERN. It is conceptualized as a working group chaired by Pr. Laurence BOON and Pr. Miikka VIKKULA, Centre for Vascular Anomalies (FR / EN), Cliniques Universitaires Saint-Luc, Brussels, Belgium. And it is co-chaired by Pr. Leo J. SCHULTZE KOOL, Radboudumc Expert Center for Hemangioma and Vascular Anomalies (HECOVAN), Nijmegen, Netherlands."; "VASCA"; rdfs:label "European Rare Vascular Anomalies Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "To register core data of rare endocrine conditions covered by Endo-ERN"; "EuRRECa"; rdfs:label "European Registry for Rare Endocrine Conditions" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Congenital hyperinsulinism (CHI) is a devastating medical condition characterised by marked clinical, histological and genetic heterogeneity. Treatment depends on results of genetic and localization diagnosis for limited surgery but in diffuse histology on drugs and frequent feeding. Several drugs (incl. repurposed) had been tested with limited success. The outcome in diffuse type is still unsatisfactory, with the risk of diabetes mellitus and hypoglycaemic brain damage."; "EuroCHI"; rdfs:label "European registry for congenital hyperinsulinsm" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Prospective registry of consecutive patients with different forms of pulmonary hypertension followed in the centers belonging to the French pulmonary hypertension network"; "FPHR"; rdfs:label "French Pulmonary Hypertension Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "This register enables detailed analysis of the natural courses of the disease, the diagnostic approaches and the current therapy strategies as well as the quality of life of the affected patients. Besides the extension of the knowledge of these diseases the evaluation of the patient register should contribute to a better treatment and long term diagnosis of the patients."; "INTD", "iNTD"; rdfs:label "International Network on Neurotransmitter related Disorders Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "JRC"; rdfs:label "JRC Central Authority" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "NEOCYST is a multicenter, interdisciplinary network of clinicians and scientists exploring early onset cystic kidney disease. High phenotypical and genetic variability and overlapping clinical symptoms complicate early diagnosis and individual prognosis of expected disease course. Goals of NEOCYST are to increase the knowledge on epidemiology, phenotypical spectrum and underlying genetic and pathophysiological mechanisms. We aim to improve clinical management and counselling of patients."; "NEOCYST"; rdfs:label "Network For Early Onset Cystic Kidney Disease" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) records those people with congenital abnormalities and rare diseases across the whole of England. NCARDRS is a service to support clinicians and patients, service delivery, commissioning and public health."; "NCARDRS"; rdfs:label "National Congenital Anomaly and Rare Disease Registration Service" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Primary Ciliary Dyskinesia (PCD) is a rare disorder of mucociliary clearance caused by defective hair like organelles (cilia). The purpose of the PCD Registry is to measure, survey and compare different aspects of PCD manifestation, course and treatment, to provide data for epidemiological research and to identify special patient groups suitable for multi-centre trials."; rdfs:label "PCD Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Paediatric Transplantation European Registry"; "PETER"; rdfs:label "Paediatric Transplantation European Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Pharmacovigilance in Juvenile Idiopathic Arthritis patients (pharmachild) treated with biologic agents and/or methotrexate. A pediatric rheumatology international trials organisation (printo)/pediatric rheumatology European society (PRES) registry"; "Pharmachild"; rdfs:label "Pharmachild" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "R-LIVER is a multi-center prospective patient registry. As part of the ERN-RARE-LIVER R-LIVER focusses on the rare liver diseases Autoimmune hepatitis (AIH), Primary biliary cholangitis (PBC), Primary sclerosing cholangitis (PSC) and other rare structural and metabolic liver diseases. The registry includes each patient's baseline medical data, yearly follow-ups and patient reported outcomes."; rdfs:label "R-LIVER" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; rdfs:label "Radboud Biobank" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "RADeep is a joint venture conceived in the core of ERN-EuroBloodNet, the European reference network for rare haematological disorders, as an umbrella for both new and already existing European patients’ registries in rare anaemias (RAs). RADeep’s Principle is to maximize public benefit from data on RAs opened-up through the platform with the only restriction needed to guarantee patient’s rights and confidentially in agreement with EU regulations for cross-border sharing of clinical data."; "RADeep"; rdfs:label "Rare Anaemia Disorders European Epidemiological Platform" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; rdfs:label "Rare Kidney Disease Biobank" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The REM aims to register clinical, genetic and genealogical data of patients affected by Multiple Osteochondromas (MO). Data are collected following GDPR requirements and according ORDO, HPO and HGVS ontologies to facilitate interoperability. The collected information will contribute to reduce time for diagnosis, to personalize the treatments and to increase knowledge on MO."; "REM"; rdfs:label "Registry of Multiple Osteochondromas"@en . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The ROM aims to register clinical, genetic and genealogical data of patients affected by Ollier Disease and Maffucci Syndrome. Data are collected following GDPR requirements and according ORDO, HPO and HGVS ontologies to facilitate interoperability. The collected information will contribute to reduce time for diagnosis, to personalize the treatments and to increase knowledge on Ollier Disease and Maffucci Syndrome."; "ROM"; rdfs:label "Registry of Ollier Disease and Maffucci Syndrome"@en . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The ROI aims to register clinical, genetic and genealogical data of patients affected by Osteogenesis Imperfecta (OI). Data are collected following GDPR requirements and according ORDO, HPO and HGVS ontologies to facilitate interoperability. The collected information will contribute to reduce time for diagnosis, to personalize the treatments and to increase knowledge on OI."; "ROI"; rdfs:label "Registry of Osteogenesis Imperfecta"@en . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Collect standardized clinical and genetic information about patients affected by Rett spectrum disorders, irrespective of the mutated gene."; "RND"; rdfs:label "Rett Networked Database" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "SMArtCARE is a disease specific registry for all patients with spinal muscular atrophy (caused by SMN1 mutations) and collects longitudinal data from participating centres"; rdfs:label "SMArtCARE" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Patient Rare Diseases registries aimed to health outcomes and natural history of diseases"; "SpainRDR-RPER"; rdfs:label "Spanish Rare Diseases Research Patient Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; rdfs:label "Spñanish National Rare Diseases Biobank" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The Dutch Diagnosis Registration Metabolic Diseases (DDRMD) is a collaborative project of all clinical metabolic centers in the Netherlands which started in 2001. Currently the United for Metabolic Disease (UMD) is in progress to build upon the insights obtained by the DDRMD"; "UMD"; rdfs:label "UMD Netherlands" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "On-line patient registry for spinal muscular atrophy in Ukraine"; "CSMA_UA"; rdfs:label "Ukrainian SMA Registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "U-IMD is a web-based European and international patient registry, encompassing all inherited metabolic diseases, relying on the extensive and stable networking structure of the European Reference Network for Hereditary Metabolic Diseases (MetabERN), adhering to the standards of the European Platform on Rare Disease Registration (EU RD Platform) and implementing the tools of the European Rare Disease Registry Infrastructure (ERDRI)."; "U-IMD"; rdfs:label "Unified European Registry for Inherited Metabolic Disorders" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "Created in 2012, the VINE registry covers the whole of Ireland and recruits patients with systemic vasculitis. The longitudinal clinical data are linked to multiple biological sample types obtained at various stages of the disease."; "VINE"; rdfs:label "Vasculitis Ireland Network registry" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "The RED aims to register clinical, genetic and genealogical data of patients affected by Ehlers-Danlos Syndrome (EDS). Data are collected following GDPR requirements and according ORDO, HPO and HGVS ontologies to facilitate interoperability. The collected information will contribute to reduce time for diagnosis, to personalize the treatments and to increase knowledge on EDS."; "RED"; rdfs:label "Registry of Ehlers-Danlos Syndrome"@en . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; "International registry collecting information on the clinical presentation, outcome and response to treatment of patients affected by the major Autoinflammatory diseases"; "Eurofever"; rdfs:label "The PRES European Network of Registries for Autoinflammatory Diseases in Childhood (Eurofever)" . a owl:Class; rdfs:subClassOf , _:5c29d; "A location, period of time, or jurisdiction."; "Olamidipupo Ajigboye"; rdfs:label "location , period, or jurisdiction" . _:5c29d a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf _:5c2bd; "Olamidipupo Ajigboye"; rdfs:label "Albania" . _:5c2bd a owl:Class; owl:intersectionOf _:5c2cd . _:5c2cd rdf:first ; rdf:rest _:5c2dd . _:5c2dd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c2fd; "Olamidipupo Ajigboye"; rdfs:label "Andora" . _:5c2fd a owl:Class; owl:intersectionOf _:5c30d . _:5c30d rdf:first ; rdf:rest _:5c31d . _:5c31d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c33d; "Olamidipupo Ajigboye"; rdfs:label "Austria" . _:5c33d a owl:Class; owl:intersectionOf _:5c35d . _:5c35d rdf:first ; rdf:rest _:5c36d . _:5c36d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c37d; "Olamidipupo Ajigboye"; rdfs:label "Belarus" . _:5c37d a owl:Class; owl:intersectionOf _:5c38d . _:5c38d rdf:first ; rdf:rest _:5c39d . _:5c39d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c3ad; "Olamidipupo Ajigboye"; rdfs:label "Belgium" . _:5c3ad a owl:Class; owl:intersectionOf _:5c3bd . _:5c3bd rdf:first ; rdf:rest _:5c3cd . _:5c3cd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c3dd; "Olamidipupo Ajigboye"; rdfs:label "'Bosnia and Herzegovina'" . _:5c3dd a owl:Class; owl:intersectionOf _:5c3ed . _:5c3ed rdf:first ; rdf:rest _:5c3fd . _:5c3fd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c40d; "Olamidipupo Ajigboye"; rdfs:label "Bulgaria" . _:5c40d a owl:Class; owl:intersectionOf _:5c41d . _:5c41d rdf:first ; rdf:rest _:5c42d . _:5c42d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c43d; "Olamidipupo Ajigboye"; rdfs:label "Croatia" . _:5c43d a owl:Class; owl:intersectionOf _:5c44d . _:5c44d rdf:first ; rdf:rest _:5c45d . _:5c45d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c46d; "Olamidipupo Ajigboye"; rdfs:label "Czechia" . _:5c46d a owl:Class; owl:intersectionOf _:5c47d . _:5c47d rdf:first ; rdf:rest _:5c48d . _:5c48d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c4dd; "Olamidipupo Ajigboye"; rdfs:label "Denmark" . _:5c4dd a owl:Class; owl:intersectionOf _:5c50d . _:5c50d rdf:first ; rdf:rest _:5c51d . _:5c51d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf ; "A system of words, letters, figures, or symbols used to represent disease"; "Olamidipupo Ajigboye"; rdfs:label "disease code" . a owl:Class; rdfs:subClassOf , _:5c58d; "The coding system used to represent diseases"; "Olamidipupo Ajigboye"; rdfs:label "disease code system" . _:5c58d a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf , _:5c5ad; "A EJP data catalog is a curated collection of metadata about EJP-RD datasets."; "Olamidipupo Ajigboye" . _:5c5ad a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf _:5c5bd; "Olamidipupo Ajigboye"; rdfs:label "Eastern Europe" . _:5c5bd a owl:Class; owl:intersectionOf _:5c5cd . _:5c5cd rdf:first ; rdf:rest _:5c5dd . _:5c5dd rdf:first ; rdf:rest _:5c5fd . _:5c5fd rdf:first _:5c5ed; rdf:rest rdf:nil . _:5c5ed a owl:Restriction; owl:onProperty ; owl:allValuesFrom . a owl:Class; rdfs:subClassOf _:5c62d; "Olamidipupo Ajigboye"; rdfs:label "Estonia" . _:5c62d a owl:Class; owl:intersectionOf _:5c63d . _:5c63d rdf:first ; rdf:rest _:5c65d . _:5c65d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c67d . _:5c67d a owl:Class; owl:intersectionOf _:5c68d . _:5c68d rdf:first ; rdf:rest _:5c6ad . _:5c6ad rdf:first _:5c69d; rdf:rest rdf:nil . _:5c69d a owl:Restriction; owl:onProperty ; owl:allValuesFrom . "Olamidipupo Ajigboye"; rdfs:label "Europe" . a owl:Class; rdfs:subClassOf _:5c6dd; "Olamidipupo Ajigboye"; rdfs:label "Finland" . _:5c6dd a owl:Class; owl:intersectionOf _:5c6ed . _:5c6ed rdf:first ; rdf:rest _:5c70d . _:5c70d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c73d; "Olamidipupo Ajigboye"; rdfs:label "France" . _:5c73d a owl:Class; owl:intersectionOf _:5c74d . _:5c74d rdf:first ; rdf:rest _:5c75d . _:5c75d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c79d; "Olamidipupo Ajigboye"; rdfs:label "Germany" . _:5c79d a owl:Class; owl:intersectionOf _:5c7ad . _:5c7ad rdf:first ; rdf:rest _:5c7cd . _:5c7cd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c7ed; "Olamidipupo Ajigboye"; rdfs:label "Greece" . _:5c7ed a owl:Class; owl:intersectionOf _:5c81d . _:5c81d rdf:first ; rdf:rest _:5c82d . _:5c82d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c83d; "Olamidipupo Ajigboye"; rdfs:label "'Holy See'" . _:5c83d a owl:Class; owl:intersectionOf _:5c84d . _:5c84d rdf:first ; rdf:rest _:5c85d . _:5c85d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c86d; "Olamidipupo Ajigboye"; rdfs:label "Hungary" . _:5c86d a owl:Class; owl:intersectionOf _:5c87d . _:5c87d rdf:first ; rdf:rest _:5c88d . _:5c88d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c89d; "Olamidipupo Ajigboye"; rdfs:label "Iceland" . _:5c89d a owl:Class; owl:intersectionOf _:5c8ad . _:5c8ad rdf:first ; rdf:rest _:5c8bd . _:5c8bd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c8cd; "Olamidipupo Ajigboye"; rdfs:label "Ireland" . _:5c8cd a owl:Class; owl:intersectionOf _:5c8dd . _:5c8dd rdf:first ; rdf:rest _:5c8ed . _:5c8ed rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c8fd; "Olamidipupo Ajigboye"; rdfs:label "Italy" . _:5c8fd a owl:Class; owl:intersectionOf _:5c90d . _:5c90d rdf:first ; rdf:rest _:5c92d . _:5c92d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c94d; "Olamidipupo Ajigboye"; rdfs:label "Latvia" . _:5c94d a owl:Class; owl:intersectionOf _:5c95d . _:5c95d rdf:first ; rdf:rest _:5c97d . _:5c97d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c99d; "Olamidipupo Ajigboye"; rdfs:label "Liechtenstein" . _:5c99d a owl:Class; owl:intersectionOf _:5c9ad . _:5c9ad rdf:first ; rdf:rest _:5c9bd . _:5c9bd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5c9dd; "Olamidipupo Ajigboye"; rdfs:label "Lithuania" . _:5c9dd a owl:Class; owl:intersectionOf _:5c9fd . _:5c9fd rdf:first ; rdf:rest _:5ca0d . _:5ca0d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5ca3d; "Olamidipupo Ajigboye"; rdfs:label "Luxembourg" . _:5ca3d a owl:Class; owl:intersectionOf _:5ca4d . _:5ca4d rdf:first ; rdf:rest _:5cacd . _:5cacd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cbdd; "Olamidipupo Ajigboye"; rdfs:label "Malta" . _:5cbdd a owl:Class; owl:intersectionOf _:5cbed . _:5cbed rdf:first ; rdf:rest _:5cbfd . _:5cbfd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cc0d; "Olamidipupo Ajigboye"; rdfs:label "Moldova" . _:5cc0d a owl:Class; owl:intersectionOf _:5cc1d . _:5cc1d rdf:first ; rdf:rest _:5cc2d . _:5cc2d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cc3d; "Olamidipupo Ajigboye"; rdfs:label "Monaco" . _:5cc3d a owl:Class; owl:intersectionOf _:5cc4d . _:5cc4d rdf:first ; rdf:rest _:5cc5d . _:5cc5d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cc6d; "Olamidipupo Ajigboye"; rdfs:label "Montenegro" . _:5cc6d a owl:Class; owl:intersectionOf _:5cc7d . _:5cc7d rdf:first ; rdf:rest _:5cc8d . _:5cc8d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cc9d; "Olamidipupo Ajigboye"; rdfs:label "Netherlands" . _:5cc9d a owl:Class; owl:intersectionOf _:5ccad . _:5ccad rdf:first ; rdf:rest _:5ccbd . _:5ccbd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cccd; "Olamidipupo Ajigboye"; rdfs:label "North Macedonia" . _:5cccd a owl:Class; owl:intersectionOf _:5ccdd . _:5ccdd rdf:first ; rdf:rest _:5cced . _:5cced rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5ccfd; "Olamidipupo Ajigboye"; rdfs:label "Northern Europe" . _:5ccfd a owl:Class; owl:intersectionOf _:5cd0d . _:5cd0d rdf:first ; rdf:rest _:5cd1d . _:5cd1d rdf:first ; rdf:rest _:5cd3d . _:5cd3d rdf:first _:5cd2d; rdf:rest rdf:nil . _:5cd2d a owl:Restriction; owl:onProperty ; owl:allValuesFrom . a owl:Class; rdfs:subClassOf _:5cd4d; "Olamidipupo Ajigboye"; rdfs:label "Norway" . _:5cd4d a owl:Class; owl:intersectionOf _:5cd5d . _:5cd5d rdf:first ; rdf:rest _:5cd6d . _:5cd6d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cd7d; "Olamidipupo Ajigboye"; rdfs:label "Poland" . _:5cd7d a owl:Class; owl:intersectionOf _:5cd8d . _:5cd8d rdf:first ; rdf:rest _:5cd9d . _:5cd9d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cdad; "Olamidipupo Ajigboye"; rdfs:label "Portugal" . _:5cdad a owl:Class; owl:intersectionOf _:5cdbd . _:5cdbd rdf:first ; rdf:rest _:5cdcd . _:5cdcd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cddd; "Olamidipupo Ajigboye"; rdfs:label "Romania" . _:5cddd a owl:Class; owl:intersectionOf _:5cded . _:5cded rdf:first ; rdf:rest _:5cdfd . _:5cdfd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5ce1d; "Olamidipupo Ajigboye"; rdfs:label "Russia" . _:5ce1d a owl:Class; owl:intersectionOf _:5ce2d . _:5ce2d rdf:first ; rdf:rest _:5ce3d . _:5ce3d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5ce9d; "Olamidipupo Ajigboye"; rdfs:label "San Marino" . _:5ce9d a owl:Class; owl:intersectionOf _:5cead . _:5cead rdf:first ; rdf:rest _:5cebd . _:5cebd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5ceed; "Olamidipupo Ajigboye"; rdfs:label "Serbia" . _:5ceed a owl:Class; owl:intersectionOf _:5cefd . _:5cefd rdf:first ; rdf:rest _:5cf1d . _:5cf1d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cf3d; "Olamidipupo Ajigboye"; rdfs:label "Slovakia" . _:5cf3d a owl:Class; owl:intersectionOf _:5cf4d . _:5cf4d rdf:first ; rdf:rest _:5cf5d . _:5cf5d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cfad; "Olamidipupo Ajigboye"; rdfs:label "Slovenia" . _:5cfad a owl:Class; owl:intersectionOf _:5cfbd . _:5cfbd rdf:first ; rdf:rest _:5cfcd . _:5cfcd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5cfed; "Olamidipupo Ajigboye"; rdfs:label "Southern Europe" . _:5cfed a owl:Class; owl:intersectionOf _:5d00d . _:5d00d rdf:first ; rdf:rest _:5d01d . _:5d01d rdf:first ; rdf:rest _:5d04d . _:5d04d rdf:first _:5d03d; rdf:rest rdf:nil . _:5d03d a owl:Restriction; owl:onProperty ; owl:allValuesFrom . a owl:Class; rdfs:subClassOf _:5d05d; "Olamidipupo Ajigboye"; rdfs:label "Spain" . _:5d05d a owl:Class; owl:intersectionOf _:5d06d . _:5d06d rdf:first ; rdf:rest _:5d07d . _:5d07d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5d08d; "Olamidipupo Ajigboye"; rdfs:label "Sweden" . _:5d08d a owl:Class; owl:intersectionOf _:5d09d . _:5d09d rdf:first ; rdf:rest _:5d0ad . _:5d0ad rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5d0bd; "Olamidipupo Ajigboye"; rdfs:label "Switzerland" . _:5d0bd a owl:Class; owl:intersectionOf _:5d0cd . _:5d0cd rdf:first ; rdf:rest _:5d0dd . _:5d0dd rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5d0ed; "Olamidipupo Ajigboye"; rdfs:label "Ukraine" . _:5d0ed a owl:Class; owl:intersectionOf _:5d0fd . _:5d0fd rdf:first ; rdf:rest _:5d10d . _:5d10d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5d11d; "Olamidipupo Ajigboye"; rdfs:label "United Kingdom" . _:5d11d a owl:Class; owl:intersectionOf _:5d12d . _:5d12d rdf:first ; rdf:rest _:5d13d . _:5d13d rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf _:5d15d; "ncbitaxon"; rdfs:label "Western Europe" . _:5d15d a owl:Class; owl:intersectionOf _:5d1ad . _:5d1ad rdf:first ; rdf:rest _:5d1dd . _:5d1dd rdf:first ; rdf:rest _:5d1fd . _:5d1fd rdf:first _:5d1ed; rdf:rest rdf:nil . _:5d1ed a owl:Restriction; owl:onProperty ; owl:allValuesFrom . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; rdfs:label "continent" . a owl:Class; rdfs:subClassOf ; "Olamidipupo Ajigboye"; rdfs:label "Country" . a owl:Class; rdfs:subClassOf owl:Thing; "Olamidipupo Ajigboye"; rdfs:label "EJP-RD"@en . a owl:Class; rdfs:subClassOf , _:5d22d, _:5d23d, _:5d24d; "Patient registries dataset is organized system of dataset (clinical and other) collected from observational study methods to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves a predetermined scientific, clinical, or policy purpose(s)."; "Olamidipupo Ajigboye"; rdfs:label "patient registry dataset" . _:5d22d a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5d23d a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5d24d a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf , _:5d26d; "Olamidipupo Ajigboye"; rdfs:label "region" . _:5d26d a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf ; "An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change."; "Helen Parkinson", "James Malone", "Jie Zheng", "Tomasz Adamusiak"; "true"; "Helen Parkinson", "James Malone", "Tomasz Adamusiak"; "MO:10"; "ExperimentalFactor"; rdfs:comment "Concept naming convention is lower case natural naming with spaces, when necessary captials should be used, for example disease factor, HIV, breast carcinoma, Ewing's sarcoma"; rdfs:label "experimental factor" . a owl:Class; rdfs:subClassOf , ; "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.", "A malignant epithelial tumor with a glandular organization.", "A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures."; "James Malone", "Tomasz Adamusiak"; , , ; , , , , ; "CRISP Thesaurus 2006, Term Number 2000-0386, http://crisp.cit.nih.gov/Thesaurus/00000107.htm Date accessed: 1st Novemeber 2007"; "CSP:2000-0386", "DOID:299", "ICDO:8140/3", "MESH:D000230", "MONDO:0004970", "MSH:D000230", "NCIT:C2852", "NCIt:C2852", "ONCOTREE:ADNOS", "SCTID:443961001", "SNOMEDCT:35917007", "UMLS:C0001418"; "Adenocarcinoma, Basal Cell", "Adenocarcinoma, Granular Cell", "Adenocarcinoma, Oxyphilic", "Adenocarcinoma, Tubular", "Adenocarcinomas", "Adenocarcinomas, Basal Cell", "Adenocarcinomas, Granular Cell", "Adenocarcinomas, Oxyphilic", "Adenocarcinomas, Tubular", "Adenoma, Malignant", "Adenomas, Malignant", "Basal Cell Adenocarcinoma", "Basal Cell Adenocarcinomas", "Carcinoma, Cribriform", "Carcinoma, Granular Cell", "Carcinoma, Tubular", "Carcinomas, Cribriform", "Carcinomas, Granular Cell", "Carcinomas, Tubular", "Cribriform Carcinoma", "Cribriform Carcinomas", "Granular Cell Adenocarcinoma", "Granular Cell Adenocarcinomas", "Granular Cell Carcinoma", "Granular Cell Carcinomas", "Malignant Adenoma", "Malignant Adenomas", "Oxyphilic Adenocarcinoma", "Oxyphilic Adenocarcinomas", "Tubular Adenocarcinoma", "Tubular Adenocarcinomas", "Tubular Carcinoma", "Tubular Carcinomas", "adenocarcinoma", "adenocarcinoma NOS (morphologic abnormality)", "adenocarcinoma, malignant", "adenocarcinoma, no subtype (morphologic abnormality)", "adenocarcinomas"; "ADNOS", "adenocarcinoma, NOS"; "EFO:0000228"; rdfs:label "adenocarcinoma" . _:5d33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma."; "NCIT:C2852" . _:5d34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSP:2000-0386"; "DOID:299" . _:5d35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:299"; "EFO:0000228", "MONDO:equivalentTo" . _:5d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8140/3"; "NCIT:C2852" . _:5d37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000230"; "DOID:299", "EFO:0000228", "MONDO:equivalentTo" . _:5d38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2852"; "DOID:299", "EFO:0000228", "MONDO:equivalentTo", "exact-label-match" . _:5d3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:ADNOS"; "MONDO:equivalentTo" . _:5d3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:443961001"; "DOID:299", "MONDO:equivalentTo" . _:5d40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001418"; "DOID:299", "MONDO:equivalentTo", "NCIT:C2852" . _:5d42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenocarcinoma"; "NCIT:C2852" . _:5d44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenocarcinoma"; rdfs:comment "preferred label from MONDO" . _:5d45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenocarcinoma NOS (morphologic abnormality)"; "DOID:299" . _:5d48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenocarcinoma, malignant"; "NCIT:C2852" . _:5d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenocarcinoma, no subtype (morphologic abnormality)"; "DOID:299" . _:5d4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenocarcinomas"; "DOID:299" . _:5d4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADNOS"; "ONCOTREE:ADNOS" . _:5d4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenocarcinoma, NOS"; "NCIT:C2852"; . a owl:Class; rdfs:subClassOf ; "3 days post planting"; "A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)."; "James Malone", "Jie Zheng", "Tomasz Adamusiak"; "MO:467", "NCIt:C25150", "SNOMEDCT:397669002"; rdfs:label "age" . a owl:Class; rdfs:subClassOf , ; "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.", "Inflammation of the pancreas."; "James Malone"; , ; , , , , ; "true"; "DOID:4989", "ICD10:K85.9", "MESH:D010195", "MONDO:0004982", "MSH:D010195", "NCIT:C3306", "NCIt:C3306", "SCTID:75694006", "SNOMEDCT:75694006", "UMLS:C0030305"; "Pancreatitides", "Pancreatitis (disorder)", "Pancreatitis NOS", "Pancreatitis, NOS", "inflammation of pancreas", "pancreas inflammation", "pancreatitis"; "EFO:0000278"; rdfs:label "pancreatitis" . _:5d59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammation of the pancreas."; "NCIT:C3306" . _:5d5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4989"; "EFO:0000278", "MONDO:equivalentTo" . _:5d5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K85.9"; "DOID:4989" . _:5d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010195"; "DOID:4989", "EFO:0000278", "MONDO:equivalentTo", "MONDO:ontobio" . _:5d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3306"; "DOID:4989", "EFO:0000278", "MONDO:equivalentTo", "exact-label-match" . _:5d61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75694006"; "DOID:4989", "EFO:0000278", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:5d62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030305"; "DOID:4989", "MONDO:equivalentTo", "NCIT:C3306" . _:5d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:5d64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.", "A carcinoma that arises from epithelial cells of the breast"; "James Malone", "Tomasz Adamusiak"; , ; , , , ; "true"; "breast cancer", "breast cancer, NOS", "cancer of breast", "cancer of the breast", "cancer, breast"; "DOID:3459", "ICD10:D05", "MONDO:0004989", "MSH:D001943", "NCIT:C4872", "NCIt:C4872", "OMIM:114480", "OMIM:615554", "SCTID:254838004", "SNOMEDCT:254838004", "UMLS:C0678222"; "CA - Carcinoma of breast", "Carcinoma of breast (disorder)", "Carcinoma of breast NOS", "Carcinoma of breast NOS (disorder)", "Carcinoma of the Breast", "Carcinoma, Human Mammary", "Carcinomas, Human Mammary", "Human Mammary Carcinoma", "Human Mammary Carcinomas", "Mammary Carcinoma, Human", "Mammary Carcinomas, Human", "Mammary carcinoma", "breast carcinoma", "carcinoma OF breast", "carcinoma of breast", "carcinoma of the breast", "mammary carcinoma"; "EFO:0000305"; rdfs:label "breast carcinoma" . _:5d65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carcinoma that arises from epithelial cells of the breast"; "MONDO:DesignPattern" . _:5d66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast cancer"; "NCIT:C4872" . _:5d67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast cancer, NOS"; "NCIT:C4872" . _:5d68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of breast"; "NCIT:C4872" . _:5d69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the breast"; "NCIT:C4872" . _:5d6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer, breast"; "NCIT:C4872" . _:5d6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3459"; "EFO:0000305", "MONDO:equivalentTo" . _:5d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4872"; "DOID:3459", "EFO:0000305", "MONDO:equivalentTo" . _:5d70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615554"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:5d72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254838004"; "DOID:3459", "EFO:0000305", "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.92/0.66" . _:5d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0678222"; "DOID:3459", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C4872" . _:5d75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast carcinoma"; "MONDO:patterns/location", "NCIT:C4872" . _:5d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast carcinoma"; rdfs:comment "preferred label from MONDO" . _:5d77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of breast"; "DOID:3459", "MONDO:patterns/carcinoma", "NCIT:C4872" . _:5d78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the breast"; "NCIT:C4872" . _:5d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mammary carcinoma"; "DOID:3459", "NCIT:C4872" . a owl:Class; rdfs:subClassOf ; "ductal carcinoma in situ"; "A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease.", "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas."; "James Malone", "Tomasz Adamusiak"; , , , , , , , , , , , , ; , , , , , ; "true"; "true"; "COHD:443392", "DOID:0050686", "DOID:0050687", "DOID:162", "GARD:0011960", "ICD10:C80", "ICD10:C80.1", "ICD9:195.8", "ICD9:199", "ICD9:199.1", "ICDO:8000/3", "MONDO:0004992", "NCIT:C9305", "NCIt:C9305", "NIFSTD:birnlex_406", "ONCOTREE:MT", "SCTID:363346000", "UMLS:C0006826"; "CA", "Malignant Neoplasm", "cancer", "cell type cancer", "malignancy", "malignant Growth", "malignant neoplasia", "malignant neoplasm", "malignant neoplasm (disease)", "malignant neoplastic disease", "malignant tumor", "malignant tumour", "neoplasm (disease), malignant", "neoplasm, malignant", "organ system cancer", "primary cancer"; "MT"; "EFO:0000311"; rdfs:label "cancer" . _:5d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas."; "NCIT:C9305" . _:5d80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:443392"; "MONDO:equivalentTo" . _:5d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050686"; "MONDO:equivalentTo" . _:5d82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050687"; "MONDO:equivalentTo" . _:5d83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:162"; "EFO:0000311", "MONDO:equivalentTo" . _:5d85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011960"; "MONDO:equivalentTo" . _:5d86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C80"; "DOID:162" . _:5d88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C80.1"; "DOID:162" . _:5d8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:195.8"; "MONDO:relatedTo", "i2s" . _:5d8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:199"; "DOID:162" . _:5d8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:199.1"; "MONDO:relatedTo", "i2s" . _:5d8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8000/3"; "NCIT:C9305" . _:5d91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9305"; "DOID:162", "EFO:0000311", "MONDO:equivalentTo" . _:5d93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIFSTD:birnlex_406"; "EFO:0000311" . _:5d96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:MT"; "MONDO:equivalentTo" . _:5d97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363346000"; "DOID:162", "MONDO:equivalentTo" . _:5d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006826"; "DOID:162", "MONDO:equivalentTo", "NCIT:C9305" . _:5d99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CA"; "NCIT:C9305" . _:5d9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer"; "NCIT:C9305" . _:5d9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer"; rdfs:comment "preferred label from MONDO" . _:5d9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cell type cancer"; "MONDO:0000404" . _:5d9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignancy"; "NCIT:C9305" . _:5da1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant Growth"; "NCIT:C9305" . _:5da3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm"; "DOID:162", "NCIT:C9305" . _:5da5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplastic disease"; "NCIT:C9305" . _:5da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor"; "DOID:162", "NCIT:C9305" . _:5da8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm (disease), malignant"; "MONDO:patterns/malignant" . _:5da9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm, malignant"; "NCIT:C9305" . _:5daad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "organ system cancer"; "MONDO:0000403" . _:5dabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary cancer"; "DOID:162" . _:5dadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MT"; "ONCOTREE:MT" . a owl:Class; rdfs:subClassOf , ; "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.", "A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases."; "James Malone"; , , , , , , , , , , , ; , , , , ; "CSP:2000-1867", "DOID:305", "ICD10:D09", "ICDO:8010/3", "ICDO:8011/3", "MESH:D002277", "MONDO:0004993", "MSH:D002277", "NCIT:C2916", "NCIt:C2916", "SCTID:722688002", "SNOMEDCT:68453008", "UMLS:C0007097"; "Other carcinoma", "carcinoma", "carcinoma, malignant", "epithelial carcinoma", "epithelioma", "epithelioma malignant", "malignant epithelial neoplasm", "malignant epithelial tumor", "malignant epithelioma"; "carcinoma, NOS"; "EFO:0000313"; rdfs:label "carcinoma" . _:5db3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas."; "NCIT:C2916" . _:5db4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSP:2000-1867"; "DOID:305" . _:5db5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:305"; "EFO:0000313", "MONDO:equivalentTo" . _:5dc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8010/3"; "NCIT:C2916" . _:5dc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8011/3"; "NCIT:C2916" . _:5dc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002277"; "DOID:305", "EFO:0000313", "MONDO:equivalentTo" . _:5dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2916"; "DOID:305", "EFO:0000313", "MONDO:equivalentTo" . _:5dc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722688002"; "MONDO:equivalentTo" . _:5dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007097"; "DOID:305", "MONDO:equivalentTo", "NCIT:C2916" . _:5dcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Other carcinoma"; "NCIT:C2916" . _:5dccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma"; "NCIT:C2916" . _:5dced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma"; rdfs:comment "preferred label from MONDO" . _:5dd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma, malignant"; "NCIT:C2916" . _:5dd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial carcinoma"; "NCIT:C2916" . _:5dd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelioma"; "CSP2005:2000-5801", "DOID:305" . _:5dd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelioma malignant"; "NCIT:C2916" . _:5dd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant epithelial neoplasm"; "NCIT:C2916" . _:5dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant epithelial tumor"; "NCIT:C2916" . _:5ddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant epithelioma"; "DOID:305", "NCIT:C2916", "NCIT:C6927" . _:5dddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma, NOS"; "NCIT:C2916"; . a owl:Class; rdfs:subClassOf , ; "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.", "A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)."; "James Malone", "Tomasz Adamusiak"; , , , , , , , , , , ; , , , , , , ; "COHD:321319", "DOID:0050700", "GARD:0011958", "ICD10:I42", "ICD10:I42.9", "ICD10:I51.5", "ICD9:425", "ICD9:425.4", "ICD9:425.9", "MESH:D009202", "MONDO:0004994", "MSH:D009202", "MedDRA:10007636", "NCIT:C34830", "NCIt:C34830", "Orphanet:167848", "SCTID:85898001", "SNOMEDCT:85898001", "UMLS:C0878544"; "CARDIOMYOPATH IN OTH DIS", "CARDIOMYOPATHIES SECOND", "Cardiomyopathies", "Cardiomyopathies, Primary", "Cardiomyopathies, Secondary", "Cardiomyopathy (disorder)", "Cardiomyopathy NOS", "Cardiomyopathy NOS (disorder)", "Cardiomyopathy in other diseases classified elsewhere", "Cardiomyopathy, NOS", "Cardiomyopathy, Primary", "Cardiomyopathy, Secondary", "Other primary cardiomyopathies", "Other primary cardiomyopathies (disorder)", "Other primary cardiomyopathy NOS", "Other primary cardiomyopathy NOS (disorder)", "PRIM CARDIOMYOPATHY NEC", "Primary Cardiomyopathies", "Primary Cardiomyopathy", "Secondary Cardiomyopathies", "Secondary Cardiomyopathy", "[X]Cardiomyopathy in other diseases classified elsewhere", "[X]Cardiomyopathy in other diseases classified elsewhere (disorder)", "cardiomyopathy", "extrinsic cardiomyopathy"; "EFO:0000318"; ; rdfs:label "cardiomyopathy" . _:5de0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive."; "NCIT:C34830" . _:5de1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:321319"; "MONDO:equivalentTo" . _:5de2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050700"; "EFO:0000318", "MONDO:equivalentTo" . _:5de4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011958"; "MONDO:equivalentTo" . _:5de8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42"; "DOID:0050700", "MONDO:equivalentTo" . _:5de9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.9"; "DOID:0050700" . _:5dead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I51.5"; "DOID:0050700" . _:5debd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425"; "DOID:0050700", "EFO:0000318" . _:5defd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.4"; "MONDO:relatedTo", "i2s" . _:5df3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.9"; "DOID:0050700" . _:5df6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009202"; "DOID:0050700", "EFO:0000318", "MONDO:equivalentTo", "ORDO:167848/e", "Orphanet:167848" . _:5df9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10007636"; "ORDO:167848/e", "Orphanet:167848" . _:5dfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34830"; "DOID:0050700", "EFO:0000318", "MONDO:equivalentTo" . _:5dfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:167848"; "MONDO:equivalentTo" . _:5e00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:85898001"; "DOID:0050700", "EFO:0000318", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:5e02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0878544"; "DOID:0050700", "MONDO:equivalentTo", "NCIT:C34830", "ORDO:167848/e", "Orphanet:167848" . _:5e06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiomyopathies"; "DOID:0050700", "MESH:D009202" . _:5e07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy"; "MONDO:0015670" . _:5e0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:5e0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:167848" . a owl:Class; rdfs:subClassOf ; "A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "A disease involving the cardiovascular system.", "A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. -- 2003", "A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.", "Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM."; "James Malone"; , , , , , , ; , , , , ; "true"; "DOID:1287", "ICD10:I00.I99", "ICD10:I98", "ICD10:I99", "ICD9:390-459.99", "ICD9:420-429.99", "ICD9:423", "ICD9:423.8", "ICD9:424", "ICD9:429", "ICD9:429.2", "ICD9:429.7", "ICD9:429.8", "ICD9:429.81", "ICD9:429.89", "ICD9:459.89", "ICD9:459.9", "MESH:D002318", "MONDO:0004995", "MSH:D002318", "NCIT:C2931", "NCIt:C2931", "SCTID:49601007", "SNOMEDCT:105980002", "SNOMEDCT:49601007", "UMLS:C0007222"; "ASCVD", "CARDIOVASC DIS", "CIRCULATORY DISEASE NOS", "CVD", "CVD, NOS", "CVS disease", "Cardiovascular Disease (CVD)", "Cardiovascular Diseases", "Cardiovascular Disorder", "Cardiovascular Disorders", "Cardiovascular disease, NOS", "Cardiovascular disease, unspecified", "Cardiovascular disorder, NOS", "Cardiovascular system disease", "Certain sequelae of myocardial infarction, not elsewhere classified", "Circulatory system disease NOS", "Circulatory system disease NOS (disorder)", "DISEASES OF THE CIRCULATORY SYSTEM", "Disease affecting entire cardiovascular system", "Disease affecting entire cardiovascular system (disorder)", "Disease of cardiovascular system", "Disease of cardiovascular system (disorder)", "Disease of cardiovascular system, NOS", "Disease, Cardiovascular", "Diseases, Cardiovascular", "Disorder of cardiovascular system", "Disorder of cardiovascular system (disorder)", "Disorder of circulatory system", "Disorder of circulatory system, NOS", "Disorder of the circulatory system", "ILL-DEFINED HRT DIS NEC", "Ill-defined descriptions and complications of heart disease", "OTHER SEQUELAE OF MI NEC", "Other diseases of endocardium", "Other diseases of endocardium (disorder)", "Other diseases of pericardium", "Other diseases of pericardium (disorder)", "Other disorders of papillary muscle", "Other forms of heart disease", "Other forms of heart disease (disorder)", "Other heart disease", "Other heart disease (disorder)", "Other heart disease NOS", "Other heart disease NOS (disorder)", "Other ill-defined heart disease", "Other ill-defined heart disease (disorder)", "Other ill-defined heart disease NOS", "Other ill-defined heart disease NOS (disorder)", "Other ill-defined heart diseases", "Other pericardial disease NOS", "Other pericardial disease NOS (disorder)", "Other sequelae of myocardial infarction, not elsewhere classified", "Other specified diseases of pericardium", "Other specified pericardial disease NOS", "Other specified pericardial disease NOS (disorder)", "PAPILLARY MUSCLE DIS NEC", "PERICARDIAL DISEASE NEC", "Unspecified circulatory system disorder", "[X]Cardiovascular disease, unspecified", "[X]Cardiovascular disease, unspecified (disorder)", "[X]Other forms of heart disease", "[X]Other forms of heart disease (disorder)", "[X]Other ill-defined heart diseases", "[X]Other ill-defined heart diseases (disorder)", "[X]Other specified diseases of pericardium", "[X]Other specified diseases of pericardium (disorder)", "cardiovascular disease", "cardiovascular disease (CVD)", "cardiovascular disorder", "cardiovascular system disease", "cardiovascular system disease or disorder", "circulatory system disease", "disease of cardiovascular system", "disease of subdivision of hemolymphoid system", "disease or disorder of cardiovascular system", "disorder of cardiovascular system"; "circulatory system disease", "disorder of cardiovascular system"; "EFO:0000319"; rdfs:label "cardiovascular disease" . _:5e18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the cardiovascular system."; "MONDO:DesignPattern" . _:5e19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1287"; "EFO:0000319", "MONDO:equivalentTo" . _:5e1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I00.I99"; "MONDO:equivalentTo" . _:5e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:390-459.99"; "EFO:0000319" . _:5e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:420-429.99"; "EFO:0000319" . _:5e1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:423"; "EFO:0000319" . _:5e1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:423.8"; "EFO:0000319" . _:5e1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:424"; "EFO:0000319" . _:5e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:429"; "EFO:0000319" . _:5e21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:429.2"; "DOID:1287", "EFO:0000319", "MONDO:equivalentTo", "i2s" . _:5e22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:429.7"; "EFO:0000319" . _:5e23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:429.8"; "EFO:0000319" . _:5e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:429.81"; "EFO:0000319" . _:5e25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:429.89"; "EFO:0000319" . _:5e26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:459.89"; "MONDO:relatedTo", "i2s" . _:5e27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:459.9"; "EFO:0000319", "MONDO:equivalentTo", "i2s" . _:5e28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002318"; "DOID:1287", "EFO:0000319", "MONDO:equivalentTo", "MONDO:ontobio" . _:5e29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2931"; "DOID:1287", "EFO:0000319", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:5e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:49601007"; "DOID:1287", "EFO:0000319", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/7.10" . _:5e2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007222"; "DOID:1287", "MONDO:equivalentTo", "NCIT:C2931" . _:5e30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular disease"; "DOID:1287", "NCIT:C2931" . _:5e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular disease"; rdfs:comment "preferred label from MONDO" . _:5e32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular disease (CVD)"; "NCIT:C2931" . _:5e33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular disorder"; "NCIT:C2931" . _:5e34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular system disease"; "MONDO:patterns/location" . _:5e36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiovascular system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:5e38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of cardiovascular system"; "MONDO:patterns/location_top" . _:5e3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of subdivision of hemolymphoid system"; "DOID:1287" . _:5e3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cardiovascular system"; "MONDO:patterns/location_top", "NCIT:C2931" . _:5e3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "circulatory system disease"; "MONDO:cjm" . _:5e3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cardiovascular system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the central nervous system", "A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.", "Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)."; "James Malone", "Tomasz Adamusiak"; , , , , ; , , , ; "true"; "DOID:3620", "ICD10:C72.9", "ICD9:239.7", "MESH:D016543", "MONDO:0002714", "MSH:D005910", "NCIT:C4627", "NCIt:C3059", "NCIt:C4627", "NIFSTD:birnlex_12618", "OMIM:616568", "SCTID:126951006", "SNOMEDCT:115240006", "SNOMEDCT:372062007", "SNOMEDCT:393564001"; "CNS Cancer", "CNS Malignant Neoplasms", "CNS Neoplasms, Malignant", "CNS cancer", "CNS malignant neoplasms", "CNS neoplasm", "CNS neoplasms, malignant", "Cancer of CNS", "Cancer of Central Nervous System", "Cancer of the CNS", "Cancer of the Central Nervous System", "Central Nervous System Neoplasms, Malignant", "Glial Cell Tumor", "Glioma", "Malignant CNS Neoplasm", "Malignant CNS Neoplasms", "Malignant CNS Tumor", "Malignant Central Nervous System Neoplasm", "Malignant Central Nervous System Tumor", "Malignant Neoplasm of CNS", "Malignant Neoplasm of Central Nervous System", "Malignant Neoplasm of the CNS", "Malignant Neoplasm of the Central Nervous System", "Malignant Tumor of CNS", "Malignant Tumor of Central Nervous System", "Malignant Tumor of the CNS", "Malignant Tumor of the Central Nervous System", "cancer of CNS", "cancer of central nervous system", "cancer of the CNS", "cancer of the central nervous system", "central nervous system cancer", "central nervous system neoplasms, malignant", "central nervous system tumor", "central nervous system tumors", "malignant CNS neoplasm", "malignant CNS neoplasms", "malignant CNS tumor", "malignant central nervous system neoplasm", "malignant central nervous system tumor", "malignant neoplasm of CNS", "malignant neoplasm of central nervous system", "malignant neoplasm of the CNS", "malignant neoplasm of the central nervous system", "malignant tumor of CNS", "malignant tumor of central nervous system", "malignant tumor of the CNS", "malignant tumor of the central nervous system", "neoplasm of central nervous system"; "malignant neoplasm of central nervous system, NOS"; "EFO:0000326"; rdfs:label "central nervous system cancer" . _:5e4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the central nervous system"; "MONDO:DesignPattern" . _:5e4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3620"; "MONDO:equivalentTo" . _:5e50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C72.9"; "DOID:3620" . _:5e51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.7"; "MONDO:relatedTo", "i2s" . _:5e52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016543"; "DOID:3620", "MONDO:equivalentTo", "MONDO:ontobio" . _:5e53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4627"; "DOID:3620", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.77/0.23" . _:5e55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616568"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:5e57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126951006"; "DOID:3620", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.76/0.52" . _:5e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS cancer"; "NCIT:C4627" . _:5e5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS malignant neoplasms"; "NCIT:C4627" . _:5e5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS neoplasm"; "CSP2005:2012-5421", "DOID:3620" . _:5e5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS neoplasms, malignant"; "NCIT:C4627" . _:5e60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of CNS"; "NCIT:C4627" . _:5e62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of central nervous system"; "MONDO:patterns/cancer", "NCIT:C4627" . _:5e64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the CNS"; "NCIT:C4627" . _:5e65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the central nervous system"; "NCIT:C4627" . _:5e66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system cancer"; "MONDO:patterns/location", "NCIT:C4627" . _:5e6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system cancer"; rdfs:comment "preferred label from MONDO" . _:5e70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system neoplasms, malignant"; "NCIT:C4627" . _:5e71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system tumor"; "DOID:3620" . _:5e72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system tumors"; "DOID:3620", "NCIT:C9293" . _:5e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant CNS neoplasm"; "NCIT:C4627" . _:5e75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant CNS neoplasms"; "NCIT:C4627" . _:5e77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant CNS tumor"; "NCIT:C4627" . _:5e79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant central nervous system neoplasm"; "MONDO:patterns/cancer", "NCIT:C4627" . _:5e7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant central nervous system tumor"; "NCIT:C4627" . _:5e7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of CNS"; "NCIT:C4627" . _:5e7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of central nervous system"; "MONDO:patterns/cancer", "NCIT:C4627" . _:5e7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the CNS"; "NCIT:C4627" . _:5e7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the central nervous system"; "NCIT:C4627" . _:5e80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of CNS"; "DOID:3620", "NCIT:C4627" . _:5e81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of central nervous system"; "NCIT:C4627" . _:5e82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the CNS"; "NCIT:C4627" . _:5e83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the central nervous system"; "NCIT:C4627" . _:5e84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of central nervous system"; "DOID:3620" . _:5e88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of central nervous system, NOS"; "DOID:3620"; . a owl:Class; rdfs:subClassOf , ; "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.", "A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.", "A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema."; "James Malone", "Tomasz Adamusiak"; , , , , , , , , , ; , , , ; "true"; "COHD:255573", "DOID:3083", "ICD10:J44", "ICD10:J44.9", "ICD9:490-496.99", "ICD9:496", "MESH:D029424", "MONDO:0005002", "MSH:D029424", "NCIT:C3199", "NCIt:C3199", "OMIM:606963", "SCTID:13645005", "SNOMEDCT:13645005", "SNOMEDCT:413846005", "SNOMEDCT:84162001"; "Airflow Obstruction, Chronic", "Airflow Obstructions, Chronic", "CAFL - Chronic airflow limitation", "CAL - Chronic airflow limitation", "CAO - Chronic airflow obstruction", "CHRONIC OBSTRUCTIVE AIRWAY DIS", "CHRONIC OBSTRUCTIVE LUNG DIS", "CHRONIC OBSTRUCTIVE PULM DIS", "CHRONIC OBSTRUCTIVE PULMONARY DISEASE, (COPD)", "COAD", "COAD - Chronic obstructive airways disease", "COLD", "COLD (chronic obstructive lung disease)", "COLD - Chronic obstructive lung disease", "COPD", "COPD - Chronic obstructive pulmonary disease", "COPD NOS", "COPD, CHRONIC OBSTRUCTIVE PULMONARY DISEASE", "COPD, chronic obstructive pulmonary disease", "Chronic Airflow Obstruction", "Chronic Airflow Obstructions", "Chronic Obstructive Airways Disease", "Chronic Obstructive Lung Disease", "Chronic Obstructive Pulmonary Disease (COPD)", "Chronic airflow limitation", "Chronic airway disease", "Chronic airway obstruction", "Chronic irreversible airway obstruction", "Chronic obstructive lung disease, NEC", "Chronic obstructive lung disease, NOS", "Chronic obstructive pulmonary disease NOS", "Chronic obstructive pulmonary disease finding", "Chronic obstructive pulmonary disease finding (finding)", "DISEASE (COPD), CHRONIC OBSTRUCTIVE", "Dops", "OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC", "PULM DIS CHRONIC OBSTRUCTIVE", "PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE", "Pulmonary Disease, Chronic Obstructive", "chronic airway obstruction, NEC in ICD9CM_2006", "chronic airway obstruction, not elsewhere classified", "chronic obstructive airway disease", "chronic obstructive airways disease", "chronic obstructive airways disease NOS", "chronic obstructive airways disease NOS (disorder)", "chronic obstructive lung disease", "chronic obstructive lung disease (disorder)", "chronic obstructive lung disease [Ambiguous]", "chronic obstructive pulmonary disease", "chronic obstructive pulmonary disease (COPD)", "chronic obstructive pulmonary disease and allied conditions", "chronic obstructive pulmonary disease, (COPD)", "cold", "cold (chronic obstructive lung disease)", "disease (COPD), chronic obstructive", "obstructive lung disease, chronic", "obstructive pulmonary disease (COPD), chronic", "pulmonary disease (COPD), chronic obstructive"; "EFO:0000341"; rdfs:label "chronic obstructive pulmonary disease" . _:5e95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema."; "NCIT:P378" . _:5e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:255573"; "MONDO:equivalentTo" . _:5e97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3083"; "EFO:0000341", "MONDO:equivalentTo" . _:5e98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J44.9"; "DOID:3083" . _:5e99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:490-496.99"; "EFO:0000341" . _:5e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:496"; "EFO:0000341", "MONDO:relatedTo", "i2s" . _:5eb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D029424"; "DOID:3083", "EFO:0000341", "MONDO:equivalentTo", "MONDO:ontobio" . _:5eb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3199"; "DOID:3083", "EFO:0000341", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.78/0.38" . _:5eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:13645005"; "DOID:3083", "EFO:0000341", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.21" . _:5eb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPD"; "DOID:3083", "NCIT:C3199" . _:5eb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPD, chronic obstructive pulmonary disease"; "NCIT:C3199" . _:5eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic obstructive airway disease"; "DOID:3083" . _:5eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic obstructive airways disease"; "NCIT:C3199" . _:5eb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic obstructive lung disease"; "DOID:3083" . _:5eb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic obstructive pulmonary disease"; rdfs:comment "preferred label from MONDO" . _:5eb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic obstructive pulmonary disease (COPD)"; "NCIT:C3199" . _:5ebad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic obstructive pulmonary disease, (COPD)"; "NCIT:C3199" . _:5ebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cold"; "NCIT:C3199" . _:5ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cold (chronic obstructive lung disease)"; "CSP2005:4004-0004", "DOID:3083" . _:5ebdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease (COPD), chronic obstructive"; "NCIT:C3199" . _:5ebed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obstructive lung disease, chronic"; "MONDO:patterns/chronic" . _:5ebfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obstructive pulmonary disease (COPD), chronic"; "NCIT:C3199" . _:5ec1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary disease (COPD), chronic obstructive"; "NCIT:C3199" . a owl:Class; rdfs:subClassOf , ; "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.", "INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse."; "James Malone", "Tomasz Adamusiak"; , , , ; "COHD:195596", "ICD9:577.1", "MESH:D050500", "MONDO:0005003", "MSH:D050500", "NCIT:C84637", "NCIt:C84637", "OMIM:167800", "OMIM:608189", "SCTID:235494005", "SNOMEDCT:235494005", "UMLS:C0149521"; "CP - Chronic pancreatitis", "Chronic pancreatitis (disorder)", "Pancreatitis, Chronic", "Pancreatitis, recurrent", "Recurrent pancreatitis", "Recurrent pancreatitis (disorder)", "Relapsing pancreatitis", "Relapsing pancreatitis (disorder)", "chronic pancreatitis", "chronic pancreatitis (disorder) [Ambiguous]", "pancreatitis, chronic"; "EFO:0000342"; rdfs:label "chronic pancreatitis" . _:5ecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus."; "NCIT:P378" . _:5eced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:195596"; "MONDO:equivalentTo" . _:5ecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:577.1"; "EFO:0000342", "MONDO:equivalentTo", "i2s" . _:5ed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D050500"; "EFO:0000342", "MONDO:equivalentTo" . _:5ed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84637"; "EFO:0000342", "MONDO:equivalentTo" . _:5ed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608189"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:5ed3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:235494005"; "EFO:0000342", "MONDO:equivalentTo", "MONDO:kboom-pr-0.84/0.67/0.09" . _:5ed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0149521"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C84637" . _:5ed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic pancreatitis"; rdfs:comment "preferred label from MONDO" . _:5ed8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, chronic"; "MONDO:patterns/chronic" . a owl:Class; rdfs:subClassOf ; "1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.", "A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.", "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.", "Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs.", "Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).", "Heart failure involving the LEFT VENTRICLE.", "Heart failure involving the RIGHT VENTRICLE.", "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction."; "James Malone", "Tomasz Adamusiak"; , , , , , , , ; , , , ; "COHD:319835", "DOID:6000", "ICD10:I50", "ICD10:I50.0", "ICD10:I50.9", "ICD9:404.01", "ICD9:404.11", "ICD9:404.13", "ICD9:428", "ICD9:428.0", "ICD9:428.9", "MONDO:0005009", "NCIT:C3080", "NCIt:C3080", "SCTID:42343007", "SNOMEDCT:42343007", "UMLS:C0018802"; "CCF - Congestive cardiac failure", "CHF", "CHF - Congestive heart failure", "CHF NOS", "Cardiac Failure", "Cardiac Failure Congestive", "Cardiac failure congestive", "Congestive cardiac failure", "Congestive heart disease", "Congestive heart failure (disorder)", "Congestive heart failure, unspecified", "Congetive cardiac failure", "Decompensation, Heart", "FAILURE, CONGESTIVE HEART", "Heart Decompensation", "Heart Failure, Congestive", "Myocardial Failure", "congestive heart disease", "congestive heart failure", "failure, congestive heart", "heart failure, congestive", "weak heart"; "EFO:0000373"; rdfs:label "congestive heart failure" . _:5ee6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction."; "NCIT:P378" . _:5ee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:319835"; "MONDO:equivalentTo" . _:5ee8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6000"; "EFO:0000373", "MONDO:equivalentTo" . _:5ee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I50"; "DOID:6000" . _:5eead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I50.0"; "MONDO:equivalentTo" . _:5eebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I50.9"; "DOID:6000" . _:5eecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:404.01"; "MONDO:relatedTo", "i2s" . _:5eefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:404.11"; "MONDO:relatedTo", "i2s" . _:5ef1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:404.13"; "MONDO:relatedTo", "i2s" . _:5ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:428"; "DOID:6000" . _:5ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:428.0"; "DOID:6000", "EFO:0000373", "MONDO:equivalentTo", "i2s" . _:5ef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:428.9"; "DOID:6000", "MONDO:subClassOf" . _:5efad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3080"; "DOID:6000", "EFO:0000373", "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.80/4.07" . _:5efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42343007"; "DOID:6000", "EFO:0000373", "MONDO:equivalentTo", "MONDO:kboom-pr-0.98/0.77/3.46" . _:5efed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018802"; "DOID:6000", "MONDO:equivalentTo", "NCIT:C3080" . _:5effd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHF"; "CSP2005:1393-3597", "DOID:6000" . _:5f02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiac failure congestive"; "DOID:6000", "NCIT:C3080" . _:5f04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congestive heart disease"; "DOID:6000", "MTHICD9_2006:428.0" . _:5f05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congestive heart failure"; rdfs:comment "preferred label from MONDO" . _:5f06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "failure, congestive heart"; "NCIT:C3080" . _:5f07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart failure, congestive"; "NCIT:C3080" . _:5f09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "weak heart"; "DOID:6000", "MTHICD9_2006:428.9" . a owl:Class; rdfs:subClassOf , ; "A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.", "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization."; "James Malone"; , , ; , , , , , ; "true"; "COHD:201820", "DOID:9351", "HP:0000819", "ICD10:E08-E13", "ICD10:E10.E14", "ICD10:E11", "ICD10:E13", "ICD10:E14", "ICD9:250", "MESH:D003920", "MONDO:0005015", "MSH:D003920", "NCIT:C2985", "NCIt:C2985", "OMIM:612227", "SCTID:73211009", "SNOMEDCT:73211009", "UMLS:C0011847", "UMLS:C0011849"; "DM", "DM - Diabetes mellitus", "Diabetes", "Diabetes NOS", "Diabetes mellitus (disorder)", "Diabetes mellitus, NOS", "diabetes", "diabetes mellitus", "diabetes mellitus (disease)"; "EFO:0000400"; rdfs:label "diabetes mellitus" . _:5f0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization."; "NCIT:P378" . _:5f10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:201820"; "MONDO:equivalentTo" . _:5f11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9351"; "EFO:0000400", "MONDO:equivalentTo" . _:5f12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000819"; "MONDO:otherHierarchy", "ontobio" . _:5f13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E08-E13"; "DOID:9351" . _:5f14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E10.E14"; "MONDO:equivalentTo" . _:5f15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E11"; "DOID:9351" . _:5f16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:250"; "DOID:9351", "EFO:0000400" . _:5f17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003920"; "DOID:9351", "EFO:0000400", "MONDO:equivalentTo", "MONDO:ontobio" . _:5f18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2985"; "DOID:9351", "EFO:0000400", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.77/0.43" . _:5f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612227"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:5f1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:73211009"; "DOID:9351", "EFO:0000400", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:5f1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011847"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:5f1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011849"; "DOID:9351", "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo", "NCIT:C2985" . _:5f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DM"; "NCIT:C2985" . _:5f1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes"; "NCIT:C2985" . _:5f1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus"; "MONDO:ambiguous", "NCIT:C2985" . _:5f20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus (disease)"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the digestive system.", "Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN.", "Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).", "Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM."; "James Malone", "Tomasz Adamusiak"; , , , , , , ; , , , ; "true"; "COHD:4201745", "DOID:5295", "DOID:77", "ICD10:K31", "ICD10:K91", "ICD10:K92", "ICD10:K92.9", "ICD9:520-579.99", "ICD9:560-569.99", "ICD9:564", "ICD9:564.4", "ICD9:569", "ICD9:569.4", "ICD9:569.49", "ICD9:570-579.99", "ICD9:575", "ICD9:V47.3", "MESH:D005767", "MONDO:0004335", "MSH:D004066", "MSH:D005767", "MSH:D007410", "NCIT:C2990", "SCTID:53619000", "SNOMEDCT:53619000"; "Cholera Infantum", "DIGESTIVE SYSTEM DIS", "DISEASES OF THE DIGESTIVE SYSTEM", "Digestive System Diseases", "Digestive system diseases NOS", "Digestive system diseases NOS (disorder)", "Disease of digestive system", "Disease of digestive system (disorder)", "Disease of digestive system, NOS", "Disease, Digestive System", "Disease, Gastrointestinal", "Diseases, Digestive System", "Diseases, Gastrointestinal", "Disorder of digestive system", "Disorder of digestive system (disorder)", "Disorder, Functional Gastrointestinal", "Disorders, Functional Gastrointestinal", "Functional Gastrointestinal Disorder", "Functional Gastrointestinal Disorders", "Functional digestive disorders, not elsewhere classified", "GASTROINTESTINAL DIS", "GIT diseases", "Gastrointestinal Disease", "Gastrointestinal Diseases", "Gastrointestinal Disorder, Functional", "Gastrointestinal Disorders, Functional", "Gastrointestinal and digestive disorder", "Infantum, Cholera", "OTHER DISEASES OF DIGESTIVE SYSTEM", "OTHER DISEASES OF INTESTINES AND PERITONEUM", "Other diseases of the intestines and peritoneum", "Other diseases of the intestines and peritoneum (disorder)", "Other disorders of gallbladder", "Other disorders of intestine", "Other disorders of intestine (disorder)", "Other gallbladder disorders", "Other gallbladder disorders (disorder)", "Other gallbladder disorders NOS", "Other gallbladder disorders NOS (disorder)", "Other intestinal disorders NOS", "Other intestinal disorders NOS (disorder)", "Other intestine disorders", "Other specified disorders of rectum and anus", "POSTOP GI FUNCT DIS NEC", "RECTAL & ANAL DIS NEC", "System Disease, Digestive", "System Diseases, Digestive", "[X]Other diseases of intestines", "[X]Other diseases of intestines (disorder)", "[X]Other diseases of the digestive system", "[X]Other diseases of the digestive system (disorder)", "[X]Other specified diseases of anus and rectum", "[X]Other specified diseases of anus and rectum (disorder)", "alimentary system disease", "digestive disease", "digestive system disease", "digestive system disease or disorder", "digestive system disorder", "disease of digestive system", "disease or disorder of digestive system", "disorder of digestive system", "gastroenterological system disease", "gastroenterological system disorder", "gastroenteropathy", "gastrointestinal disease", "gastrointestinal disorder", "gastrointestinal system disease", "gastrointestinal system disorder", "git disease", "intestinal disease", "intestinal diseases", "stomach or intestinal disorder"; "disorder of digestive system"; "EFO:0000405"; rdfs:label "digestive system disease" . _:5f2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease or disorder that involves the digestive system."; "MONDO:design_pattern" . _:5f2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4201745"; "MONDO:equivalentTo" . _:5f2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:77"; "MONDO:equivalentTo" . _:5f30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K92.9"; "DOID:77" . _:5f31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:520-579.99"; "DOID:77" . _:5f32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:V47.3"; "MONDO:relatedTo", "i2s" . _:5f35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005767"; "MONDO:equivalentTo", "MONDO:ontobio" . _:5f36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2990"; "MONDO:equivalentTo" . _:5f38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:53619000"; "DOID:77", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.75/0.38" . _:5f3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alimentary system disease"; "DOID:77" . _:5f3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive disease"; "NCIT:C2990" . _:5f3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system disease"; "NCIT:C2990" . _:5f40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system disease"; rdfs:comment "preferred label from MONDO" . _:5f42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:5f43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system disorder"; "DOID:77", "NCIT:C2990" . _:5f44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of digestive system"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:5f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of digestive system"; "MONDO:patterns/location_top", "NCIT:C2990" . _:5f48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastroenterological system disease"; "MONDO:cjm" . _:5f4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastroenterological system disorder"; "MONDO:cjm" . _:5f4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastroenteropathy"; "DOID:77" . _:5f4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal disease"; "DOID:77" . _:5f4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal disorder"; "CSP2005:1248-3545", "DOID:77", "NCIT:C2990" . _:5f51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal system disease"; "NCIT:C2990" . _:5f53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal system disorder"; "NCIT:C2990" . _:5f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "git disease"; "DOID:77" . _:5f55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "stomach or intestinal disorder"; "NCIT:C2990" . _:5f56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of digestive system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.", "An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.", "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.", "decreased function of the heart associated with cardiac enlargement and congestive heart failure"; "James Malone", "Tomasz Adamusiak"; , , , ; , , , , , , ; "true"; "COHD:4163710", "DOID:12930", "HP:0001644", "ICD10:I42.0", "ICD9:425.4", "KEGG:05414", "MESH:D002311", "MONDO:0005021", "MP:0002795", "MSH:D002311", "MedDRA:10056370", "NCIT:C84673", "NCIt:C84673", "OMIM:115200", "OMIM:615916", "Orphanet:217604", "SCTID:195021004", "SNOMEDCT:399020009", "UMLS:C0007193"; "CCM - Congestive cardiomyopathy", "COCM - Congestive cardiomyopathy", "Cardiomyopathies, Congestive", "Cardiomyopathies, Dilated", "Cardiomyopathies, Familial Idiopathic", "Cardiomyopathy, Congestive", "Cardiomyopathy, Dilated", "Cardiomyopathy, Dilated, CMD1A", "Cardiomyopathy, Dilated, LMNA", "Cardiomyopathy, Dilated, with Conduction Deffect1", "Cardiomyopathy, Familial Idiopathic", "Congestive Cardiomyopathies", "Congestive cardiomyopathy", "Congestive cardiomyopathy (disorder)", "Congestive dilated cardiomyopathy", "DCM", "DCM - Dilated cardiomyopathy", "Dilated Cardiomyopathies", "Familial Idiopathic Cardiomyopathies", "Familial Idiopathic Cardiomyopathy", "Idiopathic Cardiomyopathies, Familial", "Idiopathic Cardiomyopathy, Familial", "Primary dilated cardiomyopathy", "dilated cardiomyopathy", "primary dilated cardiomyopathy (disorder)"; "congestive cardiomyopathy", "familial dilated cardiomyopathy", "idiopathic dilation cardiomyopathy", "primary dilated cardiomyopathy"; "EFO:0000407"; ; rdfs:label "dilated cardiomyopathy" . _:5f65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure."; "NCIT:P378" . _:5f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4163710"; "MONDO:equivalentTo" . _:5f67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12930"; "EFO:0000407", "MONDO:equivalentTo" . _:5f68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001644"; "EFO:0000407", "MONDO:otherHierarchy" . _:5f69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.0"; "DOID:12930", "MONDO:equivalentTo", "ORDO:217604/e", "Orphanet:217604" . _:5f6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.4"; "MONDO:relatedTo", "i2s" . _:5f6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05414"; "DOID:12930", "MONDO:equivalentTo" . _:5f6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002311"; "DOID:12930", "EFO:0000407", "MONDO:equivalentTo", "ORDO:217604/e", "Orphanet:217604" . _:5f6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MP:0002795"; "EFO:0000407" . _:5f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056370"; "ORDO:217604/e", "Orphanet:217604" . _:5f6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84673"; "DOID:12930", "EFO:0000407", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.79/0.61" . _:5f70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615916"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:5f71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:217604"; "DOID:12930", "MONDO:equivalentTo" . _:5f72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:195021004"; "DOID:12930", "MONDO:equivalentTo", "MONDO:kboom-pr-0.85/0.68/0.09" . _:5f73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007193"; "DOID:12930", "MONDO:equivalentTo", "NCIT:C84673", "ORDO:217604/e", "Orphanet:217604" . _:5f74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dilated cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:5f76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congestive cardiomyopathy"; "DOID:12930" . _:5f78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial dilated cardiomyopathy"; "DOID:12930", "MESH:C536231" . _:5f7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic dilation cardiomyopathy"; "DOID:12930", "MESH:C536277" . _:5f7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary dilated cardiomyopathy"; "DOID:12930" . _:5f9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217604" . a owl:Class; rdfs:subClassOf , ; "A disease is a disposition that describes states of disease associated with a particular sample and/or organism.", "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism."; "James Malone"; "Homo sapiens disease", "human disease"; , , , , , ; "Olamidipupo Ajigboye"; "DOID:4", "ICD10:N18", "ICD10:R69", "ICD9:799.9", "MESH:D004194", "MONDO:0000001", "MSH:D004194", "NCIT:C2991", "OGMS:0000031", "Orphanet:377788", "SCTID:64572001", "SNOMEDCT:64572001", "UMLS:C0012634"; "Homo sapiens disease", "condition", "disease", "disease or disorder", "disease or disorder, non-neoplastic", "diseases", "diseases and disorders", "disorder", "disorders", "human disease", "medical condition", "other disease"; "EFO:0000408"; rdfs:label "disease" . _:5fa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism."; "OGMS:0000031" . _:5fa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4"; "EFO:0000408", "MONDO:equivalentTo" . _:5fa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N18"; "MONDO:equivalentTo" . _:5fa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:799.9"; "MONDO:relatedTo", "i2s" . _:5faad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004194"; "DOID:4", "EFO:0000408", "MONDO:equivalentTo", "MONDO:ontobio" . _:5fadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2991"; "DOID:4", "MONDO:equivalentTo" . _:5faed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OGMS:0000031"; "MONDO:equivalentTo" . _:5fafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:377788"; "MONDO:equivalentTo" . _:5fb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:64572001"; "DOID:4", "EFO:0000408", "MONDO:equivalentTo", "MONDO:kboom-pr-0.81/0.56/0.38" . _:5fb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0012634"; "DOID:4", "MONDO:equivalentTo", "NCIT:C2991" . _:5fb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "condition"; "NCIT:C2991" . _:5fb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease"; "NCIT:C2991" . _:5fb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder"; "NCIT:C2991" . _:5fb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder"; rdfs:comment "preferred label from MONDO" . _:5fbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder, non-neoplastic"; "NCIT:C2991" . _:5fbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases"; "NCIT:C2991" . _:5fbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases and disorders"; "NCIT:C2991" . _:5fbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder"; "NCIT:C2991" . _:5fc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders"; "NCIT:C2991" . _:5fc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "other disease"; "NCIT:C2991" . a owl:Class; rdfs:subClassOf ; "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing."; "James Malone"; , , , , , , ; , , , , ; "true"; "COHD:261325", "DC:0000512", "DOID:9675", "GARD:0011937", "ICD10:J43", "ICD10:J43.8", "ICD9:492", "ICD9:492.8", "MESH:D004646", "MESH:D011656", "MONDO:0004849", "MSH:D004646", "NCIT:C3348", "NCIt:C3348", "SCTID:87433001", "SNOMEDCT:49158009"; "EMPHYSEMA, PULMONARY", "Pulmonary Emphysema", "emphysema", "emphysema, pulmonary", "pulmonary emphysema"; "EFO:0000464"; rdfs:label "emphysema" . _:5fcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing."; "NCIT:C3348" . _:5fcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:261325"; "MONDO:equivalentTo" . _:5fcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000512"; "MONDO:equivalentTo" . _:5fd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9675"; "EFO:0000464", "MONDO:equivalentTo", "MONDO:superClassOf" . _:5fd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011937"; "MONDO:equivalentTo" . _:5fdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J43"; "MONDO:equivalentTo" . _:5fdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J43.8"; "DOID:9675" . _:5fdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:492"; "EFO:0000464" . _:5fded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:492.8"; "DOID:9675", "MONDO:relatedTo", "i2s" . _:5fe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004646"; "EFO:0000464", "MONDO:equivalentTo", "MONDO:ontobio" . _:5fe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011656"; "MONDO:equivalentTo", "MONDO:ontobio" . _:5fe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3348"; "EFO:0000464", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.79/0.92" . _:5fead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:87433001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:5fecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "emphysema"; "MONDO:0005024" . _:5fedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "emphysema, pulmonary"; "NCIT:C3348" . _:5fefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary emphysema"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.", "A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).", "A disorder characterized by recurrent seizures"; "James Malone", "Tomasz Adamusiak"; , , , , , , , , , ; , , , ; "true"; "COHD:380378", "DOID:1826", "ICD10:G40", "ICD10:G40.9", "ICD10:G40.909", "ICD9:345", "ICD9:345.8", "ICD9:345.80", "ICD9:345.9", "ICD9:345.90", "ICD9:345.91", "MESH:D004827", "MONDO:0005027", "MSH:D004827", "NCIT:C3020", "NCIt:C3020", "NIFSTD:birnlex_12718", "SCTID:84757009", "SNOMEDCT:84757009"; "EF - Epileptic fit", "EP - Epilepsy", "EPILEP NEC W/O INTR EPIL", "EPILEP NOS W/O INTR EPIL", "EPILEPSY NEC W INTR EPIL", "EPILEPSY NOS W INTR EPIL", "Epilectic attack, NOS", "Epilepsy (disorder)", "Epilepsy NOS", "Epilepsy NOS (disorder)", "Epilepsy and recurrent seizures", "Epilepsy, NOS", "Epilepsy, unspecified", "Epilepsy, unspecified, with intractable epilepsy", "Epilepsy, unspecified, without mention of intractable epilepsy", "Epileptic", "Epileptic Seizure", "Epileptic attack", "Epileptic attack, NOS", "Epileptic convulsions", "Epileptic convulsions, NOS", "Epileptic disorder", "Epileptic disorder, NOS", "Epileptic fit", "Epileptic fits", "Epileptic fits, NOS", "Epileptic seizure (finding)", "Epileptic seizures", "Epileptic seizures, NOS", "Generalised convulsion", "Generalised fit", "Generalised seizure", "Generalized convulsion", "Generalized fit", "Generalized seizure", "Generalized seizure (finding)", "Other forms of epilepsy", "Other forms of epilepsy (disorder)", "Other forms of epilepsy NOS", "Other forms of epilepsy NOS (disorder)", "Other forms of epilepsy and recurrent seizures", "Other forms of epilepsy, with intractable epilepsy", "Other forms of epilepsy, without mention of intractable epilepsy", "Seizure disorder", "Seizure disorder (disorder)", "[X]Other epilepsy", "[X]Other epilepsy (disorder)", "epilepsy", "epilepsy syndrome", "epileptic syndrome", "seizure disorder"; "EFO:0000474"; rdfs:label "epilepsy" . _:5ff7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions."; "NCIT:P378" . _:5ff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:380378"; "MONDO:equivalentTo" . _:5ff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1826"; "MONDO:equivalentTo" . _:5ffad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40"; "MONDO:equivalentTo" . _:5ffbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.9"; "DOID:1826" . _:5ffcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.909"; "DOID:1826" . _:5ffed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345"; "EFO:0000474" . _:6000d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.8"; "EFO:0000474" . _:6002d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.80"; "MONDO:relatedTo", "i2s" . _:6004d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.9"; "DOID:1826", "EFO:0000474" . _:6006d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.90"; "EFO:0000474", "MONDO:equivalentTo", "i2s" . _:6008d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.91"; "EFO:0000474" . _:600ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004827"; "DOID:1826", "EFO:0000474", "MONDO:equivalentTo", "MONDO:ontobio" . _:600cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3020"; "DOID:1826", "EFO:0000474", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:600fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIFSTD:birnlex_12718"; "EFO:0000474" . _:6010d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:84757009"; "DOID:1826", "EFO:0000474", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:6011d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epilepsy"; rdfs:comment "preferred label from MONDO" . _:6012d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epilepsy syndrome"; "DOID:1826" . _:6013d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epileptic syndrome"; "DOID:1826" . _:6014d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "seizure disorder"; "NCIT:C3020" . a owl:Class; rdfs:subClassOf , ; "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterise the thyroid gland papillary carcinoma are absent. It is linked to radiation and comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound and fine needle biopsy. Treatment options include: partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.", "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.", "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). (NCI05)", "An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)"; "James Malone", "Tomasz Adamusiak"; , , , ; , , , ; "true"; "DOID:3962", "HP:0006731", "ICDO:8330/3", "ICDO:8331/3", "MESH:D018263", "MONDO:0005034", "MSH:D018263", "NCIT:C8054", "NCIt:C27380", "NCIt:C8054", "OMIM:188470", "OMIM:607464", "OMIM:616534", "OMIM:616535", "ONCOTREE:THFO", "SCTID:255028004", "SNOMEDCT:255028004"; "Adenocarcinoma, Follicular", "Adenocarcinomas, Follicular", "FTC - Follicular thyroid carcinoma", "Follicular Adenocarcinoma", "Follicular Adenocarcinomas", "Follicular Cancer of Thyroid", "Follicular Cancer of Thyroid Gland", "Follicular Cancer of the Thyroid", "Follicular Cancer of the Thyroid Gland", "Follicular Carcinoma of Thyroid", "Follicular Carcinoma of Thyroid Gland", "Follicular Carcinoma of the Thyroid", "Follicular Thyroid Cancer", "Follicular Thyroid Gland Carcinoma", "Follicular adenocarcinoma (morphologic abnormality)", "Follicular adenocarcinoma - well differentiated", "Follicular adenocarcinoma, NOS", "Follicular adenocarcinoma, well differentiated", "Follicular adenocarcinoma, well differentiated (morphologic abnormality)", "Follicular carcinoma", "Follicular carcinoma - well differentiated", "Follicular carcinoma of the Thyroid gland", "Follicular carcinoma, NOS", "Follicular carcinoma, well differentiated", "Follicular thyroid carcinoma (disorder)", "Thyroid Follicular Carcinoma", "Thyroid Gland Adenocarcinoma", "Thyroid Gland Follicular Carcinoma", "Well-Differentiated Follicular Adenocarcinoma", "Well-Differentiated Follicular Carcinoma", "[M]Follicular adenocarcinoma NOS", "[M]Follicular adenocarcinoma NOS (morphologic abnormality)", "[M]Follicular carcinoma", "carcinoma of thyroid follicle", "carcinoma, follicular cell, malignant", "follicular Thyroid cancer", "follicular Thyroid carcinoma", "follicular Thyroid gland carcinoma", "follicular adenocarcinoma", "follicular adenocarcinoma (morphologic abnormality)", "follicular adenocarcinoma, well differentiated", "follicular adenocarcinoma, well differentiated (morphologic abnormality)", "follicular cancer of Thyroid", "follicular cancer of Thyroid gland", "follicular cancer of the Thyroid", "follicular cancer of the Thyroid gland", "follicular carcinoma", "follicular carcinoma of Thyroid", "follicular carcinoma of Thyroid gland", "follicular carcinoma of the Thyroid", "follicular carcinoma of the Thyroid gland", "follicular thyroid cancer", "follicular thyroid carcinoma", "thyroid adenocarcinoma", "thyroid follicle carcinoma", "thyroid follicular carcinoma", "thyroid gland adenocarcinoma", "thyroid gland follicular cancer", "thyroid gland follicular carcinoma", "well-differentiated follicular adenocarcinoma", "well-differentiated follicular carcinoma"; "EFO:0000501"; rdfs:label "follicular thyroid carcinoma" . _:601dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy."; "NCIT:C8054" . _:601fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3962"; "EFO:0000501", "MONDO:equivalentTo" . _:6020d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0006731"; "MONDO:otherHierarchy", "ontobio" . _:6022d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8330/3"; "NCIT:C8054" . _:6024d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8331/3"; "NCIT:C8054" . _:6025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018263"; "DOID:3962", "EFO:0000501", "MONDO:equivalentTo", "MONDO:ontobio" . _:6028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C8054"; "DOID:3962", "EFO:0000501", "MONDO:equivalentTo" . _:602bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607464"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:602dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616534"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:602ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616535"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6030d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:THFO"; "MONDO:equivalentTo" . _:6031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:255028004"; "DOID:3962", "EFO:0000501", "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.92/0.62" . _:6033d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of thyroid follicle"; "MONDO:patterns/carcinoma" . _:6035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma, follicular cell, malignant"; "NCIT:C8054" . _:6036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular Thyroid cancer"; "NCIT:C8054" . _:6037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular Thyroid carcinoma"; "NCIT:C8054" . _:6038d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular Thyroid gland carcinoma"; "NCIT:C8054" . _:6039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular adenocarcinoma"; "NCIT:C8054" . _:603ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular adenocarcinoma (morphologic abnormality)"; "DOID:3962" . _:603bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular adenocarcinoma, well differentiated"; "DOID:3962" . _:603cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular adenocarcinoma, well differentiated (morphologic abnormality)"; "DOID:3962" . _:603dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular cancer of Thyroid"; "NCIT:C8054" . _:603ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular cancer of Thyroid gland"; "NCIT:C8054" . _:603fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular cancer of the Thyroid"; "NCIT:C8054" . _:6040d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular cancer of the Thyroid gland"; "NCIT:C8054" . _:6044d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular carcinoma"; "DOID:3962", "NCIT:C8054" . _:6046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular carcinoma of Thyroid"; "NCIT:C8054" . _:6048d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular carcinoma of Thyroid gland"; "NCIT:C8054" . _:604ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular carcinoma of the Thyroid"; "NCIT:C8054" . _:6052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular carcinoma of the Thyroid gland"; "DOID:3962", "NCIT:C8054" . _:6054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular thyroid cancer"; "NCIT:C8054" . _:6055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular thyroid carcinoma"; "MONDO:ambiguous", "NCIT:C8054" . _:6057d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid adenocarcinoma"; "DOID:3962" . _:6059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid follicular carcinoma"; "NCIT:C8054" . _:605bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland adenocarcinoma"; "MONDO:patterns/location" . _:605cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland follicular cancer"; "NCIT:C8054" . _:605ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland follicular carcinoma"; "NCIT:C8054" . _:605fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland follicular carcinoma"; rdfs:comment "preferred label from MONDO" . _:6060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "well-differentiated follicular adenocarcinoma"; "NCIT:C8054" . _:6061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "well-differentiated follicular carcinoma"; "NCIT:C8054" . a owl:Class; rdfs:subClassOf ; "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.", "A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be).", "Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders."; "James Malone"; ; , , , , ; "genetic condition", "genetic disease", "genetic disorder"; "DOID:630", "ICD9:799.89", "MESH:D030342", "MONDO:0003847", "MSH:D030342", "NCIT:C3101", "NCIt:C3101", "SCTID:32895009", "UMLS:C0019247"; "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease"; "familial disorder", "inborn disorder"; "EFO:0000508"; rdfs:comment "Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish."; rdfs:label "genetic disorder" . _:6069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."; "MONDO:cjm" . _:606bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:606cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic condition"; "NCIT:C3101" . _:606ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic disorder"; "NCIT:C3101" . _:606fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:630"; "MONDO:equivalentTo" . _:6070d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:799.89"; "MONDO:relatedTo", "i2s" . _:6075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D030342"; "DOID:630", "EFO:0000508", "MONDO:equivalentTo" . _:6077d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D030342"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6079d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3101"; "DOID:630", "EFO:0000508", "MONDO:equivalentTo" . _:607ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C3101"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:607bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:32895009"; "DOID:630", "MONDO:equivalentTo" . _:607cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019247"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:607dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019247"; "DOID:630", "EFO:0000508", "MONDO:equivalentTo", "NCIT:C3101" . _:607ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic condition"; "NCIT:C3101" . _:6083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic disorder"; "NCIT:C3101" . _:6084d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6086d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary disease"; "MONDO:patterns/hereditary", "NCIT:C3101" . _:6089d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary disease or disorder"; "MONDO:patterns/hereditary" . _:608ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary diseases"; "NCIT:C3101" . _:608cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited disease"; "NCIT:C3101" . _:608ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited genetic disease"; rdfs:comment "preferred label from MONDO" . _:6090d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "molecular disease"; "NCIT:C3101" . a owl:Class; rdfs:subClassOf ; "A disease involving the reproductive system.", "any diease of the reproductive system"; "James Malone", "Sirarat Sarntivijai", "Tomasz Adamusiak"; , ; , , , ; "DOID:15", "MONDO:0005039", "NCIT:C4875", "SCTID:362968007", "SNOMEDCT:362968007", "UMLS:C0178829", "Wikipedia:Reproductive_system_disease"; "Disorder of reproductive system", "Disorder of reproductive system (disorder)", "Non-neoplastic Reproductive system disease", "disease of reproductive system", "disease or disorder of reproductive system", "disorder of reproductive system", "genital disorders", "genital system disease", "reproductive disease", "reproductive system disease", "reproductive system disease or disorder", "reproductive system disorder"; "disorder of reproductive system"; "EFO:0000512"; rdfs:label "reproductive system disease" . _:60a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the reproductive system."; "MONDO:DesignPattern" . _:60a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:15"; "EFO:0000512", "MONDO:equivalentTo" . _:60a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4875"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:60a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:362968007"; "EFO:0000512", "MONDO:equivalentTo" . _:60a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0178829"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C4875" . _:60a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Reproductive_system_disease"; "EFO:0000512" . _:60aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of reproductive system"; "MONDO:patterns/location_top" . _:60abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of reproductive system"; "MONDO:patterns/location_top", "NCIT:C4875" . _:60add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genital disorders"; "NCIT:C4875" . _:60aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genital system disease"; "DOID:15" . _:60b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive disease"; "DOID:15" . _:60b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive system disease"; "MONDO:patterns/location", "NCIT:C4875" . _:60b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive system disease"; rdfs:comment "preferred label from MONDO" . _:60b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:60bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive system disorder"; "NCIT:C4875" . _:60bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of reproductive system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)", "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor."; "James Malone", "Tomasz Adamusiak"; , , ; , , , , ; "true"; "COHD:437541", "DOID:1686", "HP:0000501", "ICD10:H40", "ICD10:H40-H42", "ICD10:H40.9", "ICD10:H40.H42", "ICD9:365", "ICD9:365.89", "ICD9:365.9", "MESH:D005901", "MONDO:0005041", "MSH:D005901", "NCIT:C26782", "NCIt:C26782", "SCTID:23986001", "SNOMEDCT:23986001", "UMLS:C0017601"; "GLAUCOMA NEC", "Glaucoma (disorder)", "Glaucoma NOS", "Glaucoma NOS (disorder)", "Glaucoma associated with other ocular disorders", "Glaucoma associated with other ocular disorders (disorder)", "Glaucoma associated with other ocular disorders NOS", "Glaucoma associated with other ocular disorders NOS (disorder)", "Glaucoma, NOS", "Glaucomas", "Other specified forms of glaucoma", "Other specified forms of glaucoma (disorder)", "Other specified glaucoma", "Other specified glaucoma NOS", "Other specified glaucoma NOS (disorder)", "Unspecified glaucoma", "glaucoma", "glaucoma (disease)"; "EFO:0000516"; rdfs:label "glaucoma" . _:60c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor."; "NCIT:P378" . _:60cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:437541"; "MONDO:equivalentTo" . _:60cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1686"; "EFO:0000516", "MONDO:equivalentTo" . _:60ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000501"; "MONDO:otherHierarchy", "ontobio" . _:60cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H40"; "DOID:1686" . _:60cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H40-H42"; "DOID:1686" . _:60d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H40.9"; "DOID:1686" . _:60d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H40.H42"; "MONDO:equivalentTo" . _:60d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:365"; "DOID:1686", "EFO:0000516" . _:60d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:365.89"; "MONDO:relatedTo", "i2s" . _:60d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:365.9"; "DOID:1686", "MONDO:equivalentTo", "i2s" . _:60d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005901"; "DOID:1686", "EFO:0000516", "MONDO:equivalentTo", "MONDO:ontobio" . _:60dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26782"; "DOID:1686", "EFO:0000516", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:60ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:23986001"; "DOID:1686", "EFO:0000516", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:60dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017601"; "DOID:1686", "MONDO:equivalentTo", "NCIT:C26782" . _:60e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glaucoma"; "MONDO:ambiguous" . _:60e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glaucoma (disease)"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the anatomic structures of the head and neck region. This category includes inflammatory disorders, benign neoplasms, precancerous conditions, and malignant neoplasms. [ NCI ]", "Any disease or disorder affecting the head and/or neck region."; "James Malone"; , ; "NCIT:C27571", "NCIt:C27571", "UMLS:C1333941"; "craniocervical region disease", "craniocervical region disease or disorder", "disease of craniocervical region", "disease or disorder of craniocervical region", "disorder of craniocervical region", "disorder of head (disorder)", "head and neck disorder", "head disease", "head or neck disease/disorder", "head or neck disorder"; "disorder of craniocervical region"; "EFO:0000524"; rdfs:comment "This term had been labelled 'head disease' up until EFO 2.90 where it was then amended to 'head and neck disorder' to better reflect meaningful classification. The old definition is \"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia\"."; rdfs:label "head and neck disorder" . _:60e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease or disorder affecting the head and/or neck region."; "MONDO:cjm" . _:60e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27571"; "MONDO:equivalentTo" . _:60e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1333941"; "MEDGEN:kboom-pr95-c98", "MONDO:equivalentTo", "NCIT:C27571" . _:60ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniocervical region disease"; "MONDO:patterns/location" . _:60edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniocervical region disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:60efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of craniocervical region"; "MONDO:patterns/location_top" . _:60f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of craniocervical region"; "MONDO:patterns/location_top" . _:60f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck disorder"; "NCIT:C27571" . _:60f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head or neck disease/disorder"; rdfs:comment "preferred label from MONDO" . _:60f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of craniocervical region"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.", "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more."; "James Malone"; , , , , , , , ; , , , , ; "true"; "HTN"; "DOID:10763", "HP:0000822", "ICD10:I10", "ICD10:I10-I15", "ICD10:I15", "ICD10:O10", "ICD10:O11", "ICD9:401-405.99", "ICD9:997.91", "MESH:D006973", "MONDO:0005044", "MSH:D006973", "NCIT:C3117", "NCIt:C3117", "OMIM:145500", "SCTID:38341003", "UMLS:C0020538"; "(hypertensive disease) or (hypertension)", "Blood Pressure, High", "Blood Pressures, High", "HTN", "HTN - hypertension", "HYPERTENSIVE DISEASE", "High Blood Pressure", "High Blood Pressures", "High blood pressure (& [essential hypertension])", "Hypertensive disease (disorder)", "Hypertensive disease NOS (disorder)", "SURG COMP - HYPERTENSION", "[X]Hypertensive diseases", "[X]Hypertensive diseases (disorder)", "blood pressure, high", "blood pressure, increased", "high blood pressure", "hyperpiesia", "hypertension NOS", "hypertensive disease", "hypertensive disease NOS", "hypertensive disorder", "increased blood pressure", "pressure, high blood", "vascular hypertensive disorder"; "hypertension"; "EFO:0000537"; rdfs:label "hypertension" . _:60ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more."; "MESH:D006973" . _:6100d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HTN"; "CSP2005:0571-5243", "DOID:10763" . _:6101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10763"; "EFO:0000537", "MONDO:equivalentTo" . _:6102d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000822"; "MONDO:otherHierarchy" . _:6103d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I10"; "DOID:10763" . _:6104d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I10-I15"; "DOID:10763" . _:6105d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I15"; "MONDO:equivalentTo" . _:6106d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:401-405.99"; "DOID:10763", "EFO:0000537" . _:6107d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:997.91"; "DOID:10763" . _:6108d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006973"; "DOID:10763", "EFO:0000537", "MONDO:equivalentTo", "MONDO:ontobio" . _:610ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3117"; "DOID:10763", "EFO:0000537", "MONDO:equivalentTo", "MONDO:otherHierarchy", "exact-label-match" . _:610ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145500"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:610fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:38341003"; "DOID:10763", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/6.19" . _:6111d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020538"; "DOID:10763", "MONDO:equivalentTo" . _:6112d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood pressure, high"; "NCIT:C3117" . _:6113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood pressure, increased"; "NCIT:C3117" . _:6114d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "high blood pressure"; "DOID:10763" . _:6116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperpiesia"; "CSP2005:4003-0017", "DOID:10763" . _:6118d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertensive disease"; "DOID:10763", "MTH:NOCODE" . _:611ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertensive disorder"; rdfs:comment "preferred label from MONDO" . _:611cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "increased blood pressure"; "NCIT:C3117" . _:611dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pressure, high blood"; "NCIT:C3117" . _:611ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular hypertensive disorder"; "DOID:10763", "NCIT:C3117" . _:611fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertension"; "DOID:10763" . a owl:Class; rdfs:subClassOf ; "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.", "A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)."; "James Malone", "Tomasz Adamusiak"; , , , , , , , ; , , , , , , ; "COHD:4124693", "DOID:11984", "ICD10:I42.1", "ICD9:425.1", "ICD9:425.11", "ICD9:425.4", "KEGG:05410", "MESH:D002312", "MONDO:0005045", "MSH:D002312", "MedDRA:10020871", "NCIT:C34449", "NCIt:C34449", "OMIM:115196", "OMIM:115197", "OMIM:192600", "OMIM:600858", "OMIM:601493", "OMIM:608751", "OMIM:612098", "OMIM:613251", "OMIM:613255", "OMIM:613690", "OMIM:613765", "OMIM:613838", "OMIM:613873", "OMIM:613874", "OMIM:613875", "OMIM:613876", "OMIMPS:192600", "ORDO:Orphanet_217569", "Orphanet:217569", "SCTID:233873004", "SNOMEDCT:233873004", "UMLS:C0007194"; "Asymmetric Septal Hypertrophies", "Asymmetric Septal Hypertrophy", "Cardiomyopathies, Hypertrophic", "Cardiomyopathies, Hypertrophic Obstructive", "Cardiomyopathy, Hypertrophic Obstructive", "Cardiomyopathy, hypertrophic", "HCM", "HCM - Hypertrophic cardiomyopathy", "HOCM - Hypertrophic obstructive cardiomyopathy", "HYPERTR OBSTR CARDIOMYOP", "Hypertrophic Cardiomyopathies", "Hypertrophic Obstructive Cardiomyopathies", "Hypertrophic Obstructive Cardiomyopathy", "Hypertrophic cardiomyopathy (disorder)", "Hypertrophic obstructive cardiomyopathy (disorder)", "Hypertrophies, Asymmetric Septal", "Hypertrophy, Asymmetric Septal", "IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS", "IHSS", "IHSSs", "Idiopathic Hypertrophic Subaortic Stenosis", "Idiopathic Hypertrophic Subvalvular Stenosis", "Obstructive Cardiomyopathies, Hypertrophic", "Obstructive Cardiomyopathy, Hypertrophic", "Obstructive cardiomyopathy", "Primary hypertrophic cardiomyopathy", "SUBVALV STENOSIS", "SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC", "Septal Hypertrophies, Asymmetric", "Septal Hypertrophy, Asymmetric", "Subvalvular Stenosis, Idiopathic Hypertrophic", "hyper. obst. cardiomyopathy", "hypertrophic cardiomyopathy", "hypertrophic myocardiopathy", "hypertrophic obstructive cardiomyopathy", "hypertrophic subaortic stenosis", "obstructive hypertrophic cardiomyopathy", "primary hypertrophic cardiomyopathy (disorder) [Ambiguous]"; "familial hypertrophic cardiomyopathy"; "HCM - hypertrophic cardiomyopathy"; "EFO:0000538"; , ; rdfs:label "hypertrophic cardiomyopathy" . _:6133d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract."; "NCIT:C34449" . _:6134d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4124693"; "MONDO:equivalentTo" . _:6137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11984"; "EFO:0000538", "MONDO:equivalentTo" . _:6139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.1"; "DOID:11984", "MONDO:equivalentTo" . _:613bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.1"; "DOID:11984", "EFO:0000538" . _:613cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.11"; "DOID:11984" . _:613ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.4"; "MONDO:relatedTo", "i2s" . _:6142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05410"; "DOID:11984", "MONDO:equivalentTo" . _:6146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002312"; "DOID:11984", "EFO:0000538", "MONDO:equivalentTo", "ORDO:217569/e", "Orphanet:217569" . _:6148d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020871"; "ORDO:217569/e", "Orphanet:217569" . _:614bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34449"; "DOID:11984", "EFO:0000538", "MONDO:equivalentTo" . _:614cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115196"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:614dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115197"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:614ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600858"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:614fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601493"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6150d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608751"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612098"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6152d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613251"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613255"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6156d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613690"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613765"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:615ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613838"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:615cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613873"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:615dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613874"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:615ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613875"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:615fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:192600"; "DOID:11984", "MONDO:superClassOf" . _:6160d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:217569"; "MONDO:equivalentTo" . _:6164d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:233873004"; "DOID:11984", "EFO:0000538", "MONDO:equivalentTo" . _:6165d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007194"; "DOID:11984", "MONDO:equivalentTo", "NCIT:C34449", "ORDO:217569/e", "Orphanet:217569" . _:6167d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertrophic cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:6169d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertrophic obstructive cardiomyopathy"; "DOID:11984" . _:616bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertrophic subaortic stenosis"; "Orphanet:217569" . _:616dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obstructive hypertrophic cardiomyopathy"; "Orphanet:217569" . _:616fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypertrophic cardiomyopathy"; "DOID:11984" . _:6171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217569" . a owl:Class; rdfs:subClassOf ; "A disorder resulting from an abnormality in the immune system.", "A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)"; "James Malone", "Tomasz Adamusiak"; , , , , , , ; , , , ; "true"; "DOID:2914", "ICD10:D89", "ICD10:D89.9", "ICD9:279", "ICD9:279.1", "ICD9:279.10", "ICD9:279.19", "ICD9:279.4", "ICD9:279.49", "ICD9:279.8", "ICD9:279.9", "MESH:D007154", "MONDO:0005046", "MSH:D001327", "NCIT:C3507", "NCIt:C27351", "OMIM:109100", "SCTID:414029004"; "AUTOIMMUNE DISEASE NEC", "Autoimmune disease, not elsewhere classified", "DEFIC CELL IMMUNITY NOS", "Deficiency of cell-mediated immunity", "Disorder of the immune mechanism NOS", "Disorder of the immune mechanism NOS (disorder)", "Disorders involving the immune mechanism", "IMMUNDEF T-CELL DEF NOS", "IMMUNE MECHANISM DIS NEC", "IMMUNE MECHANISM DIS NOS", "Immune System and Related Disorders", "Immunodeficiency and Immunosuppression Disorders", "Immunodeficiency with predominant T-cell defect, unspecified", "Other deficiency of cell-mediated immunity", "Other specified disorders involving the immune mechanism", "Other specified disorders of the immune mechanism", "Other specified disorders of the immune mechanism (disorder)", "Unspecified disorder of immune mechanism", "[X]Disorder involving the immune mechanism, unspecified", "[X]Disorder involving the immune mechanism, unspecified (disorder)", "autoimmune diseases", "disease of immune system", "disease or disorder of immune system", "disorder of immune system", "immune disease", "immune disorder", "immune dysfunction", "immune system disease", "immune system disease or disorder", "immune system disorder"; "disorder of immune system", "immune disorder, NOS"; "EFO:0000540"; rdfs:label "immune system disease" . _:6176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder resulting from an abnormality in the immune system."; "NCIT:C3507" . _:6178d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2914"; "EFO:0000540", "MONDO:equivalentTo" . _:617ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D89.9"; "DOID:2914" . _:617cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279"; "DOID:2914", "EFO:0000540" . _:617fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.1"; "EFO:0000540" . _:6180d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.10"; "EFO:0000540" . _:6192d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.19"; "EFO:0000540" . _:6193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.4"; "EFO:0000540" . _:6194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.49"; "EFO:0000540" . _:6195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.8"; "EFO:0000540", "MONDO:relatedTo", "i2s" . _:6196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.9"; "DOID:2914", "EFO:0000540", "MONDO:equivalentTo", "i2s" . _:6197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007154"; "MONDO:equivalentTo", "MONDO:ontobio" . _:6198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3507"; "MONDO:equivalentTo" . _:6199d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:414029004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.79/0.38" . _:619ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of immune system"; "MONDO:patterns/location_top" . _:619cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of immune system"; "MONDO:patterns/location_top", "NCIT:C3507" . _:619ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune disease"; "DOID:2914" . _:61a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune disorder"; "NCIT:C3507" . _:61a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune dysfunction"; "NCIT:C3507" . _:61a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune system disease"; rdfs:comment "preferred label from MONDO" . _:61a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:61ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune system disorder"; "NCIT:C3507" . _:61d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of immune system"; "MONDO:patterns/location_top" . _:61d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune disorder, NOS"; "NCIT:C3507"; . a owl:Class; rdfs:subClassOf ; "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.", "Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility."; "James Malone"; , , , , , ; , , ; "DOID:5223", "MESH:D007246", "MONDO:0005047", "MSH:D007246", "NCIT:C3836", "NCIt:C3836", "SNOMEDCT:15296000", "SNOMEDCT:261029002", "SNOMEDCT:8619003"; "Infertile", "Infertile (finding)", "Reproductive Sterility", "Sterile", "Sterility", "Sterility, Reproductive", "fertility disorders", "infertile", "infertility disorder", "sterile", "sterility"; "infertility"; "EFO:0000545"; ; rdfs:comment "Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting"; rdfs:label "infertility" . _:61e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues."; "NCIT:C3836" . _:61e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5223"; "EFO:0000545", "MONDO:equivalentTo" . _:61e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007246"; "DOID:5223", "EFO:0000545", "MONDO:equivalentTo", "MONDO:ontobio" . _:61e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3836"; "DOID:5223", "EFO:0000545", "MONDO:equivalentTo", "MONDO:otherHierarchy", "exact-label-match" . _:61e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sterile"; "NCIT:C3836" . _:61e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fertility disorders"; "NCIT:C3836" . _:61e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infertile"; "NCIT:C3836" . _:61e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infertility disorder"; rdfs:comment "preferred label from MONDO" . _:61ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sterile"; "NCIT:C3836" . _:61ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sterility"; "NCIT:C3836" . _:61ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infertility"; "DOID:5223" . a owl:Class; rdfs:subClassOf ; "A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process.", "A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003", "A disease that involving errors in metabolic processes.", "Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)"; "James Malone"; , , , ; , , , , ; "COHD:436670", "DOID:0014667", "ICD10:E70.E90", "ICD10:E88.9", "ICD9:277.8", "ICD9:277.9", "MESH:D008659", "MONDO:0005066", "MSH:D008659", "NCIT:C3235", "NCIt:C3235", "SCTID:75934005", "SNOMEDCT:75934005", "UMLS:C0025517"; "DIS METAB", "Disease, Metabolic", "Diseases, Metabolic", "Disorder of metabolism NOS", "Disorder of metabolism NOS (disorder)", "Generalised metabolic disorder", "Generalized metabolic disorder", "Generalized metabolic disorder (disorder)", "MD - Metabolic disorders", "METAB DIS", "METABOLISM DISORDER NOS", "Metabolic Diseases", "Metabolic Disorder", "Metabolic disease (disorder)", "Metabolic disease, NOS", "Metabolic disorder, NOS", "Metabolic disorders", "Thesaurismoses", "Thesaurismosis", "Unspecified disorder of metabolism", "disease of metabolism", "disorder of metabolic process", "metabolic disease", "metabolic process disease", "metabolism disorder"; "metabolic disorder"; "disease of metabolism", "disorder of metabolic process"; "EFO:0000589"; rdfs:label "metabolic disease" . _:61fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process."; "NCIT:C3235" . _:61fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:436670"; "MONDO:equivalentTo" . _:61fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0014667"; "EFO:0000589", "MONDO:equivalentTo" . _:61fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.E90"; "MONDO:equivalentTo" . _:61ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E88.9"; "DOID:0014667" . _:6201d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.8"; "MONDO:relatedTo", "i2s" . _:6204d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.9"; "DOID:0014667", "EFO:0000589", "MONDO:equivalentTo", "i2s" . _:6208d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008659"; "DOID:0014667", "EFO:0000589", "MONDO:equivalentTo", "MONDO:ontobio" . _:620ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3235"; "DOID:0014667", "EFO:0000589", "MONDO:equivalentTo" . _:620bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75934005"; "DOID:0014667", "EFO:0000589", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/8.50" . _:620cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025517"; "DOID:0014667", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3235" . _:620fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . _:6211d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease"; "DOID:0014667", "NCIT:C3235" . _:6213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease"; rdfs:comment "preferred label from MONDO" . _:6214d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic process disease"; "MONDO:design_pattern" . _:6215d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disorder"; "NCIT:C3235" . _:6216d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of metabolism"; "DOID:0014667" . _:6217d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of metabolic process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.", "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias."; "James Malone", "Tomasz Adamusiak"; , , , ; , , , , ; "cell process disease"; "COHD:438112", "DOID:14566", "HP:0002664", "ICD10:C00.D48", "ICD10:D48", "ICD10:Z85", "ICD9:140-239.99", "ICD9:239.8", "ICD9:239.9", "MESH:D009369", "MONDO:0005070", "MSH:D009369", "NCIT:C3262", "NCIt:C3262", "ONCOTREE:OTHER", "SCTID:55342001", "SNOMEDCT:108369006", "UMLS:CN236628"; "NEOPL", "NEOPLASMS BENIGN, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS)", "Neoplasia", "Neoplasms", "Neoplastic Growth", "Tumor", "Tumors", "disease of cellular proliferation", "neoplasia", "neoplasm", "neoplasm (disease)", "neoplastic disease", "neoplastic growth", "tumor", "tumor disease", "tumour", "tumours"; "other neoplasm"; "EFO:0000616"; rdfs:label "neoplasm" . _:6223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias."; "NCIT:C3262" . _:6224d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cell process disease"; "DOID:14566"; . _:6225d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:438112"; "MONDO:equivalentTo" . _:6226d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14566"; "MONDO:equivalentTo" . _:6227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002664"; "MONDO:otherHierarchy", "ontobio" . _:6229d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C00.D48"; "MONDO:equivalentTo" . _:622bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:140-239.99"; "EFO:0000616" . _:622dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.8"; "MONDO:relatedTo", "i2s" . _:622ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.9"; "MONDO:equivalentTo", "i2s" . _:622fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009369"; "EFO:0000616", "MONDO:equivalentTo" . _:6230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3262"; "EFO:0000616", "MONDO:equivalentTo" . _:6231d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:OTHER"; "MONDO:superClassOf" . _:6232d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:55342001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.95/0.75/2.11" . _:6233d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN236628"; "MONDO:equivalentTo" . _:6234d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of cellular proliferation"; "MONDO:0002001" . _:6235d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasia"; "NCIT:C3262" . _:6236d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm"; "DOID:14566", "MONDO:ambiguous", "NCIT:C3262" . _:6237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm (disease)"; rdfs:comment "preferred label from MONDO" . _:6238d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplastic disease"; "NCIT:C3262" . _:6239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplastic growth"; "NCIT:C3262" . _:623ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor"; "NCIT:C3262" . _:623bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "other neoplasm"; "NCIT:C3262" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.", "a general class of medical conditions affecting the nervous system."; "James Malone", "Sirarat Sarntivijai"; , , , , ; , , , , ; "DOID:863", "ICD10:G00-G99", "ICD10:G00.G99", "ICD10:G98", "ICD10:G98.8", "ICD9:349.89", "ICD9:349.9", "MESH:D009422", "MONDO:0005071", "NCIT:C26835", "SCTID:118940003", "UMLS:C0027765", "Wikipedia:Nervous_system_disease"; "disease of nervous system", "disease or disorder of nervous system", "disorder of nervous system", "nervous system disease", "nervous system disease or disorder", "nervous system disorder", "neurologic disease", "neurologic disorder", "neurological disease", "neurological disorder", "neurological problem"; "disorder of nervous system"; "EFO:0000618"; rdfs:label "nervous system disease" . _:6241d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."; "NCIT:C26835" . _:6242d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:863"; "EFO:0000618", "MONDO:equivalentTo" . _:6243d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G00-G99"; "DOID:863" . _:6244d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G00.G99"; "MONDO:equivalentTo" . _:6246d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G98"; "DOID:863" . _:6247d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G98.8"; "DOID:863" . _:6249d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:349.89"; "MONDO:relatedTo", "i2s" . _:624cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:349.9"; "DOID:863", "MONDO:equivalentTo", "i2s" . _:624ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009422"; "DOID:863", "MONDO:equivalentTo", "MONDO:ontobio" . _:6251d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26835"; "DOID:863", "MONDO:equivalentTo", "NCIT:C26835" . _:6253d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:118940003"; "DOID:863", "MONDO:equivalentTo" . _:6255d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027765"; "DOID:863", "MONDO:equivalentTo", "NCIT:C26835" . _:6258d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Nervous_system_disease"; "EFO:0000618" . _:6259d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of nervous system"; "MONDO:patterns/location_top" . _:625ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of nervous system"; "MONDO:patterns/location_top", "NCIT:C26835" . _:625bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system disease"; "MONDO:patterns/location" . _:625cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:625dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system disorder"; "NCIT:C26835" . _:625ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system disorder"; rdfs:comment "preferred label from MONDO" . _:625fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurologic disease"; "DOID:863" . _:6260d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurologic disorder"; "DOID:863", "NCIT:C26835" . _:6261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurological disease"; "DOID:863" . _:6264d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurological disorder"; "DOID:863" . _:626ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of nervous system"; "MONDO:patterns/location_top", "NCIT:C26835" . a owl:Class; rdfs:subClassOf , ; "Nevus (or naevus, plural nevi or naevi, from nævus, Latin for \"birthmark\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \"melanocytic nevus\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack."; "James Malone", "Sirarat Sarntivijai", "Tomasz Adamusiak"; "true"; "MSH:D009506", "OMIM:162900", "Wikipedia:Nevus"; "Mole NOS", "Mole of skin", "cutaneous nevi", "cutaneous nevus", "nevus (disorder)", "nevus, NOS", "skin mole, NOS"; rdfs:label "nevus" . a owl:Class; rdfs:subClassOf ; "The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease. The detectable outward manifestations of a specific genotype."; "James Malone", "Jie Zheng", "Tomasz Adamusiak"; "MO:192", "MSH:D010641", "NCIt:C16977", "NIFSTD:birnlex_2087", "SNOMEDCT:8116006"; rdfs:label "phenotype" . a owl:Class; rdfs:subClassOf ; "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.", "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004", "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.", "Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base."; "James Malone"; , ; , , ; "ICD10:N84", "MESH:D011127", "MONDO:0005079", "MSH:D011127", "NCIT:C3340", "NCIt:C3340", "SCTID:441456002", "SNOMEDCT:41329004", "SNOMEDCT:441456002"; "polyp", "polyp (morphologic abnormality)", "polyps"; "EFO:0000662"; rdfs:label "polyp" . _:6274d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations."; "NCIT:C3340" . _:6275d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N84"; "MONDO:equivalentTo" . _:6276d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011127"; "EFO:0000662", "MONDO:equivalentTo", "MONDO:ontobio" . _:6277d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3340"; "EFO:0000662", "MONDO:equivalentTo", "exact-label-match" . _:6278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:441456002"; "EFO:0000662", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:6279d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyp"; "NCIT:C3340" . _:627ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyp"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , , , ; "A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.", "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp."; "James Malone", "Tomasz Adamusiak"; , , , , ; , , , , ; "true"; "COHD:140168", "DOID:8893", "GARD:0010262", "ICD10:L40", "ICD10:L40.9", "ICD9:696", "ICD9:696.1", "ICD9:696.5", "ICD9:696.8", "MESH:D011565", "MONDO:0005083", "MSH:D011565", "NCIT:C3346", "NCIt:C3346", "OMIM:177900", "OMIM:602723", "OMIM:605606", "OMIM:612599", "OMIM:614070", "OMIMPS:177900", "SCTID:9014002", "SNOMEDCT:9014002", "UMLS:C0033860"; "OTHER PSORIASIS", "Other and unspecified pityriasis", "Other psoriasis and similar disorders", "Other psoriasis and similar disorders (disorder)", "Other psoriasis and similar disorders excluding psoriatic arthropathy", "PITYRIASIS NEC & NOS", "PSORIAS RELATED DIS NEC", "PUSTULAR PSORIASIS OF PALMS SOLES", "PUSTULOSIS OF PALMS SOLES", "Palmoplantaris Pustulosis", "Psoriases", "Psoriasis and similar disorders", "Psoriasis and similar disorders (disorder)", "Psoriasis and similar disorders (navigational concept)", "Psoriasis and similar disorders NOS", "Psoriasis and similar disorders NOS (disorder)", "Pustular Psoriasis of Palms and Soles", "Pustulosis Palmaris et Plantaris", "Pustulosis of Palms and Soles", "psoriasis"; "EFO:0000676"; rdfs:label "psoriasis" . _:627fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp."; "NCIT:P378" . _:6281d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:140168"; "MONDO:equivalentTo" . _:6283d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8893"; "EFO:0000676", "MONDO:equivalentTo" . _:6285d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010262"; "MONDO:equivalentTo" . _:6287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L40"; "DOID:8893", "MONDO:equivalentTo" . _:6289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L40.9"; "DOID:8893" . _:628ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:696"; "EFO:0000676" . _:628cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:696.1"; "EFO:0000676", "MONDO:relatedTo", "i2s" . _:628fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:696.5"; "EFO:0000676" . _:6291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:696.8"; "EFO:0000676", "MONDO:relatedTo", "i2s" . _:6294d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011565"; "DOID:8893", "EFO:0000676", "MONDO:equivalentTo" . _:6296d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3346"; "DOID:8893", "EFO:0000676", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:6298d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:177900"; "MONDO:cjm", "MONDO:equivalentTo" . _:6299d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:9014002"; "DOID:8893", "EFO:0000676", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:629ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033860"; "DOID:8893", "MONDO:equivalentTo", "NCIT:C3346" . _:629bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "psoriasis"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "A disease that has its basis in the disruption of mental process.", "Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)", "Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)."; "James Malone", "Tomasz Adamusiak"; "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture."; , , ; , ; "true"; "DOID:150", "DOID:2468", "ICD10:F00.F99", "ICD10:F99", "ICD9:290-299.99", "ICD9:298.8", "ICD9:V11.9", "MONDO:0005084", "MSH:D001523", "MSH:D011618", "NCIt:C2893", "NIFSTD:birnlex_12669", "SCTID:74732009", "SNOMEDCT:5464005", "SNOMEDCT:69322001", "SNOMEDCT:74732009", "UMLS:CN240636"; "Behavior Disorder", "Brief Reactive Psychoses", "Brief Reactive Psychosis", "Disorder, Psychotic", "Disorders, Psychotic", "Mental Disorder", "PSYCHOTIC DIS", "Psychiatric Disorder", "Psychoses", "Psychoses, Brief Reactive", "Psychosis, Brief Reactive", "Psychotic Disorder", "Psychotic Disorders", "Reactive Psychoses, Brief", "Reactive Psychosis, Brief", "disease of mental health", "disorder of mental process", "mental disorder", "mental disorders", "mental or behavioral disorder", "mental or behavioural disorder", "mental process disease"; "disorder of mental process"; "EFO:0000677"; rdfs:label "mental or behavioural disorder" . _:62aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of mental process."; "MONDO:patterns/basis_in_disruption_of_process" . _:62acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:F00.F99"; "MONDO:equivalentTo" . _:62add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:290-299.99"; "EFO:0000677" . _:62afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:298.8"; "DOID:2468" . _:62b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:V11.9"; "MONDO:relatedTo", "i2s" . _:62b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIFSTD:birnlex_12669"; "EFO:0000677" . _:62b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:74732009"; "EFO:0000677", "MONDO:equivalentTo" . _:62b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN240636"; "MONDO:equivalentTo" . _:62b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of mental process"; "MONDO:patterns/basis_in_disruption_of_process" . _:62c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental disorder"; rdfs:comment "preferred label from MONDO" . _:62c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental or behavioural disorder"; "DOID:2468" . _:62cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental process disease"; "MONDO:design_pattern" . _:62cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of mental process"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf ; "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs.", "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."; "James Malone"; , , , , , , ; , , , ; "true"; "DOID:1579", "ICD10:J06", "ICD10:J34", "ICD10:J39", "ICD10:J63", "ICD10:J96-J99", "ICD10:J98", "ICD10:J99", "ICD9:460-519.99", "ICD9:500-508.99", "ICD9:503", "ICD9:508", "ICD9:508.1", "ICD9:508.8", "ICD9:508.9", "ICD9:510-519.99", "ICD9:516", "ICD9:516.8", "ICD9:516.9", "ICD9:517", "ICD9:517.8", "ICD9:519", "ICD9:519.1", "ICD9:519.3", "ICD9:519.8", "ICD9:519.9", "ICD9:V12.60", "ICD9:V47.2", "MESH:D012140", "MONDO:0005087", "NCIT:C26871", "NCIt:C26871", "SCTID:50043002", "SNOMEDCT:50043002"; "ALVEOL PNEUMONOPATHY NEC", "ALVEOL PNEUMONOPATHY NOS", "CHR PUL MANIF D/T RADIAT", "Chronic and other pulmonary manifestations due to radiation", "DISEASES OF THE RESPIRATORY SYSTEM", "Disease of respiratory system", "Disease of respiratory system (disorder)", "Disease of respiratory system, NOS", "Disorder of respiratory system", "Disorder of respiratory system (disorder)", "INORG DUST PNEUMOCON NEC", "LUNG INVOLV IN OTH DIS", "Lung involvement in conditions classified elsewhere", "Lung involvement in other diseases classified elsewhere", "MEDIASTINUM DISEASE NEC", "Other alveolar and parietoalveolar pneumonopathy", "Other diseases of mediastinum, not elsewhere classified", "Other diseases of respiratory system", "Other diseases of respiratory system NOS", "Other diseases of respiratory system NOS (disorder)", "Other diseases of respiratory system, not elsewhere classified", "Other diseases of trachea and bronchus, not elsewhere classified", "Other respiratory system diseases", "Other respiratory system diseases (disorder)", "Other respiratory system diseases NOS", "Other respiratory system diseases NOS (disorder)", "Other specified alveolar and parietoalveolar pneumonopathies", "PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS", "Pneumoconiosis due to other inorganic dust", "RESP COND: EXT AGENT NEC", "RESP COND: EXT AGENT NOS", "RESP SYSTEM DISEASE NEC", "RESP SYSTEM DISEASE NOS", "Respiratory System Disorder", "Respiratory conditions due to other and unspecified external agents", "Respiratory conditions due to other specified external agents", "Respiratory conditions due to unspecified external agent", "Respiratory disease", "Respiratory disorder", "Respiratory disorder, NOS", "Respiratory system diseases NOS", "Respiratory system diseases NOS (disorder)", "Unspecified alveolar and parietoalveolar pneumonopathy", "Unspecified disease of respiratory system", "[X]Chronic and other pulmonary manifestations due to radiation", "[X]Chronic and other pulmonary manifestations due to radiation (disorder)", "[X]Other diseases of the respiratory system", "[X]Other diseases of the respiratory system (disorder)", "[X]Respiratory conditions due to other specified external agents", "[X]Respiratory conditions due to other specified external agents (disorder)", "[X]Respiratory conditions due to unspecified external agent", "[X]Respiratory conditions due to unspecified external agent (disorder)", "disease of respiratory system", "disease or disorder of respiratory system", "disorder of respiratory system", "respiratory disease", "respiratory disorder", "respiratory system disease", "respiratory system disease or disorder", "respiratory system disorder"; "disorder of respiratory system"; "EFO:0000684"; rdfs:label "respiratory system disease" . _:62d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."; "NCIT:C26871" . _:62dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1579"; "EFO:0000684", "MONDO:equivalentTo" . _:62dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J96-J99"; "DOID:1579" . _:62ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J98"; "DOID:1579" . _:62e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:460-519.99"; "EFO:0000684" . _:62e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:500-508.99"; "EFO:0000684" . _:62e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:503"; "EFO:0000684" . _:62e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:508"; "EFO:0000684" . _:62e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:508.1"; "EFO:0000684" . _:62e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:508.8"; "EFO:0000684" . _:62e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:508.9"; "EFO:0000684" . _:62e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:510-519.99"; "DOID:1579", "EFO:0000684" . _:62ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:516"; "EFO:0000684" . _:62ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:516.8"; "EFO:0000684" . _:62ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:516.9"; "EFO:0000684" . _:62edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:517"; "EFO:0000684" . _:62eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:517.8"; "EFO:0000684" . _:62efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:519"; "DOID:1579", "EFO:0000684" . _:62f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:519.1"; "EFO:0000684" . _:62f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:519.3"; "EFO:0000684" . _:62f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:519.8"; "EFO:0000684", "MONDO:relatedTo", "i2s" . _:62f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:519.9"; "EFO:0000684", "MONDO:equivalentTo", "i2s" . _:62f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:V12.60"; "MONDO:equivalentTo", "i2s" . _:62f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:V47.2"; "MONDO:relatedTo", "i2s" . _:62fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012140"; "MONDO:equivalentTo" . _:62fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26871"; "EFO:0000684", "MONDO:equivalentTo" . _:62ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:50043002"; "EFO:0000684", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/10.68" . _:6301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of respiratory system"; "MONDO:patterns/location_top" . _:6303d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of respiratory system"; "MONDO:patterns/location_top", "NCIT:C26871" . _:6304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "respiratory disease"; "DOID:1579" . _:6305d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "respiratory disorder"; "NCIT:C26871" . _:6307d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "respiratory system disease"; "MONDO:patterns/location" . _:6308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "respiratory system disease"; rdfs:comment "preferred label from MONDO" . _:630ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "respiratory system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:630bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "respiratory system disorder"; "NCIT:C26871" . _:630dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of respiratory system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , , , , ; "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.", "A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.", "A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH).", "A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)", "A tumor of the peripheral nervous system composed of neoplastic Schwann cells. The vast majority of schwannomas follow a benign clinical course. Only rare cases associated with a malignant clinical course have been reported."; "James Malone", "Tomasz Adamusiak"; , , ; , , , , , , , , ; "DOID:12689", "DOID:3192", "DOID:3196", "DOID:3206", "DOID:955", "GARD:0004767", "ICD9:215.9", "ICDO:9560/0", "MONDO:0002546", "MSH:D009442", "MedDRA:10029234", "MedDRA:10029235", "NCIT:C3269", "NCIt:C3269", "NIFSTD:birnlex_12603", "OMIM:162091", "ONCOTREE:SCHW", "Orphanet:252164", "SCTID:404022001", "SNOMEDCT:126949007", "SNOMEDCT:253086004", "SNOMEDCT:253087008", "SNOMEDCT:253088003", "SNOMEDCT:404022001", "SNOMEDCT:404023006", "SNOMEDCT:409704009", "SNOMEDCT:77418004", "SNOMEDCT:985004", "UMLS:C0027809", "UMLS:CN202001"; "Acoustic neuroma", "Ancient neurilemmoma", "Ancient neurilemmoma (disorder)", "Ancient neurilemoma", "Ancient schwannoma", "Ancient schwannoma (morphologic abnormality)", "Benign Neurilemmoma", "Benign Schwannoma", "Cellular schwannoma", "Degenerated Neurilemmoma", "Degenerated Schwannoma", "Malignant Neurilemoma", "Malignant Neurilemomas", "Melanocytic Schwannoma", "Melanotic schwannoma", "Neurilemmoma", "Neurilemmoma (disorder)", "Neurilemmoma, NOS", "Neurilemmomas", "Neurilemmosarcoma", "Neurilemmosarcomas", "Neurilemoma", "Neurilemoma (morphologic abnormality)", "Neurilemoma, Malignant", "Neurilemomas", "Neurilemomas, Malignant", "Neurinoma", "Neurinomas", "Pigmented Schawnnoma", "Pigmented schwannoma", "Plexiform Schwannomatoses", "Plexiform Schwannomatosis", "Plexiform schwannoma", "Psammomatous schwannoma", "Schwannoma (WHO Grade I)", "Schwannoma, NOS", "Schwannomas", "Schwannomatoses, Plexiform", "Schwannomatosis, Plexiform", "benign neurilemmoma", "benign schwannoma", "neurilemmoma", "neurilemoma", "neurinoma", "peripheral fibroblastoma", "psammomatous schwannoma", "schwannoma", "schwannoma (WHO grade I)", "schwannoma, benign"; "SCHW", "neurolemmoma"; "EFO:0000693"; , ; rdfs:label "schwannoma"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4767/schwannoma"^^xsd:anyURI . _:6322d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported."; "NCIT:C3269" . _:6323d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3192"; "MONDO:equivalentTo" . _:6325d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004767"; "MONDO:equivalentTo" . _:6326d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:215.9"; "MONDO:relatedTo", "i2s" . _:6327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:9560/0"; "NCIT:C3269" . _:6328d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029234"; "ORDO:252164/e", "Orphanet:252164" . _:632ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029235"; "ORDO:252164/e", "Orphanet:252164" . _:632dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3269"; "MONDO:equivalentTo" . _:632ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:SCHW"; "MONDO:equivalentTo" . _:632fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:252164"; "MONDO:equivalentTo" . _:6331d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:404022001"; "DOID:3192", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:6333d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027809"; "DOID:3192", "MONDO:equivalentTo", "NCIT:C3269", "ORDO:252164/e", "Orphanet:252164" . _:6334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202001"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:6335d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neurilemmoma"; "NCIT:C3269" . _:6336d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign schwannoma"; "MONDO:0016753", "NCIT:C3269" . _:633bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurilemmoma"; "NCIT:C3269", "Orphanet:252164" . _:633dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurilemoma"; "Orphanet:252164" . _:633fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurinoma"; "NCIT:C3269" . _:6341d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral fibroblastoma"; "Orphanet:252164" . _:6343d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "psammomatous schwannoma"; "DOID:3192" . _:6344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "schwannoma"; "DOID:3192", "NCIT:C3269" . _:6345d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "schwannoma"; rdfs:comment "preferred label from MONDO" . _:6347d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "schwannoma (WHO grade I)"; "NCIT:C3269" . _:634ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "schwannoma, benign"; "NCIT:C3269" . _:6350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCHW"; "ONCOTREE:SCHW" . _:6352d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurolemmoma"; "GARD:0004767" . _:6354d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004767" . _:6356d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:252164" . _:6357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4767/schwannoma"^^xsd:anyURI; "GARD:0004767" . a owl:Class; rdfs:subClassOf ; "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs."; "James Malone"; , , , , , , , , , , , , , , , , , ; , , , ; "true"; "DOID:37", "ICD10:L08", "ICD10:L30", "ICD10:L53", "ICD10:L91", "ICD10:L98", "ICD10:R21", "ICD9:702", "ICD9:702.8", "ICD9:709.8", "MESH:D012871", "MONDO:0005093", "NCIT:C3371", "NCIt:C3371", "SCTID:95320005"; "Cutaneous Disorder", "SKIN AND SUBCUTANEOUS TISSUE DISORDERS", "Skin Diseases and Manifestations", "Skin Disorder", "cutaneous disorder", "disease of zone of skin", "disease or disorder of zone of skin", "disorder of skin", "disorder of zone of skin", "skin and subcutaneous tissue disease", "skin disease", "skin diseases and manifestations", "skin disorder", "zone of skin disease", "zone of skin disease or disorder"; "dermatosis", "genodermatosis"; "disorder of zone of skin"; "EFO:0000701"; rdfs:label "skin disease" . _:6363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs."; "NCIT:C3371" . _:6365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:37"; "EFO:0000701", "MONDO:equivalentTo" . _:6366d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:702"; "DOID:37" . _:6367d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:702.8"; "MONDO:relatedTo", "i2s" . _:6368d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:709.8"; "MONDO:relatedTo", "i2s" . _:6369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012871"; "DOID:37", "MONDO:equivalentTo", "MONDO:ontobio" . _:636ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3371"; "DOID:37", "EFO:0000701", "MONDO:equivalentTo" . _:636bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95320005"; "DOID:37", "MONDO:equivalentTo" . _:636cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous disorder"; "NCIT:C3371" . _:636ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of zone of skin"; "MONDO:patterns/location_top" . _:6370d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of skin"; "NCIT:C3371" . _:6372d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of zone of skin"; "MONDO:patterns/location_top" . _:6374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin and subcutaneous tissue disease"; "DOID:37" . _:6376d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin disease"; rdfs:comment "preferred label from MONDO" . _:6378d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin diseases and manifestations"; "NCIT:C3371" . _:637ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin disorder"; "NCIT:C3371" . _:637bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin disease"; "MONDO:patterns/location" . _:637cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:637dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dermatosis"; "https://medical-dictionary.thefreedictionary.com/dermatosis" . _:6380d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genodermatosis"; "DOID:37" . _:6383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of zone of skin"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "The life of an organism, a surgical operation as processual context for a nosocomical infection, the spatiotemporal context occupied by a process of cellular meiosis, the spatiotemporal region occupied by the development of a cancer tumor."; "A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times"; "James Malone"; rdfs:label "temporal measurement" . a owl:Class; rdfs:subClassOf , ; "A disease characterized by low serum levels of vitamin B12, either inherited or acquired.", "A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)"; "James Malone", "Tomasz Adamusiak"; , , , ; "DOID:0050731", "HP:0100502", "ICD10:D51", "ICD9:266.2", "MESH:D014806", "MSH:D014806", "NCIT:C131684", "OMIM:193090", "SCTID:190634004", "SNOMEDCT:190634004", "UMLS:C0042847"; "Cobalamin deficiency", "Cobalamin deficiency (disorder)", "DEFIC VITAMIN B 12", "DEFIC VITAMIN B12", "Deficiencies, Vitamin B12", "Deficiency of vitamin B12", "Deficiency of vitamin B12", "Deficiency of vitamin B>12<", "Deficiency of vitamin B>12< (disorder)", "Deficiency, Vitamin B 12", "Deficiency, Vitamin B12", "VITAMIN B 12 DEFIC", "VITAMIN B A 12 DEFICIENCY", "VITAMIN B12 DEFIC", "Vitamin B 12 Deficiency", "Vitamin B12 Deficiencies", "cobalamin deficiency", "hypocobalaminemia", "vitamin B12 deficiency", "vitamin b12 deficiency"; "EFO:0000734"; rdfs:label "vitamin B12 deficiency" . _:6390d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease characterized by low serum levels of vitamin B12, either inherited or acquired."; "MONDO:cjm", "PMID:16846473" . _:6391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0100502"; "MONDO:otherHierarchy", "ontobio" . _:6394d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:266.2"; "MONDO:relatedTo", "i2s" . _:6396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014806"; "MONDO:equivalentTo", "MONDO:ontobio" . _:6397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131684"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:63a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190634004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.77/6.14" . _:63a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042847"; "MONDO:equivalentTo", "NCIT:C131684" . _:63a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocobalaminemia"; "NCIT:C131684" . _:63a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin B12 deficiency"; rdfs:comment "preferred label from MONDO" . _:63a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin b12 deficiency"; "NCIT:C131684" . a owl:Class; rdfs:subClassOf , , ; "A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)", "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.", "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain."; "James Malone", "Tomasz Adamusiak"; , , , , ; , , , , , ; "true"; "DOID:1909", "HP:0002861", "ICDO:8720/3", "KEGG:05218", "MESH:D008545", "MONDO:0005105", "MSH:D008545", "NCIT:C3224", "NCIt:C3224", "OMIM:155600", "OMIM:155755", "ONCOTREE:MEL", "SCTID:372244006", "SNOMEDCT:2092003", "SNOMEDCT:372244006", "UMLS:C0025202", "UMLS:CN971653"; "MM - Malignant melanoma", "Malignant Melanoma", "Malignant Melanomas", "Malignant melanoma (morphologic abnormality)", "Malignant melanoma, NOS", "Malignant melanoma, morphology (morphologic abnormality)", "Malignant melanoma, no ICD-O subtype", "Malignant melanoma, no ICD-O subtype (morphologic abnormality)", "Melanoma, Malignant", "Melanoma, NOS", "Melanomas", "Melanomas, Malignant", "Melanosarcoma", "Naevocarcinoma", "[M]Malignant melanoma NOS", "[M]Malignant melanoma NOS (morphologic abnormality)", "malignant melanoma", "malignant melanoma (disorder)", "malignant melanoma NOS (morphologic abnormality)", "melanoma", "melanoma (disease)", "melanoma, malignant"; "EFO:0000756"; rdfs:label "melanoma" . _:63aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain."; "NCIT:C3224" . _:63b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1909"; "EFO:0000756", "MONDO:equivalentTo" . _:63b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002861"; "MONDO:otherHierarchy", "ontobio" . _:63b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8720/3"; "NCIT:C3224" . _:63b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05218"; "DOID:1909", "MONDO:equivalentTo" . _:63b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008545"; "DOID:1909", "EFO:0000756", "MONDO:equivalentTo" . _:63b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3224"; "DOID:1909", "EFO:0000756", "MONDO:equivalentTo" . _:63b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155755"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:63b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:MEL"; "MONDO:equivalentTo" . _:63b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:372244006"; "DOID:1909", "EFO:0000756", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.67/0.72" . _:63cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025202"; "DOID:1909", "MONDO:equivalentTo", "NCIT:C3224" . _:63d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN971653"; "MONDO:equivalentTo" . _:63d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Naevocarcinoma"; "DOID:1909" . _:63d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant melanoma"; "DOID:1909", "NCIT:C3224" . _:63d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanoma"; "MONDO:ambiguous", "NCIT:C3224" . _:63d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanoma (disease)"; rdfs:comment "preferred label from MONDO" . _:63d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanoma, malignant"; "NCIT:C3224" . a owl:Class; rdfs:subClassOf ; "A viral disease is a disease factor that is caused primarily by the infection or otherwise hosting of a virus.", "Any disease caused by a virus."; "James Malone"; , , , , , , , , , ; , , , ; "COHD:440029", "DOID:934", "ICD10:A08", "ICD10:A94", "ICD10:B34", "ICD10:B34.9", "ICD9:060-066.99", "ICD9:066.9", "ICD9:078.89", "ICD9:079.99", "MESH:D014777", "MONDO:0005108", "NCIT:C3439", "SCTID:34014006", "SNOMEDCT:34014006"; "Viruses caused disease or disorder", "Viruses disease or disorder", "Viruses infection", "Viruses infectious disease", "infection, viral", "viral disease", "viral disorder", "viral infection", "viral infectious disease", "virus infection"; "infections, Viruses"; "EFO:0000763"; rdfs:label "viral disease" . _:63e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease caused by a virus."; "NCIT:P378" . _:63e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:440029"; "MONDO:equivalentTo" . _:63e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:934"; "EFO:0000763", "MONDO:equivalentTo" . _:63e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:A94"; "DOID:934" . _:63ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:B34"; "DOID:934" . _:63efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:B34.9"; "DOID:934" . _:63f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:060-066.99"; "DOID:934" . _:63f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:066.9"; "DOID:934" . _:63f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:078.89"; "MONDO:relatedTo", "i2s" . _:63f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:079.99"; "MONDO:equivalentTo", "i2s" . _:63f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014777"; "DOID:934", "MONDO:equivalentTo", "MONDO:ontobio" . _:63f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3439"; "DOID:934", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:63f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:34014006"; "DOID:934", "EFO:0000763", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/26.59" . _:63f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Viruses caused disease or disorder"; "MONDO:patterns/specific_infectious_disease_by_agent" . _:63fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Viruses infection"; "MONDO:patterns/infectious_disease_by_agent" . _:63fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infection, viral"; "NCIT:C3439" . _:63fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "viral disease"; "DOID:934", "NCIT:C3439" . _:63fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "viral disorder"; "NCIT:C3439" . _:63fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "viral infection"; "DOID:934", "NCIT:C3439" . _:63ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "viral infectious disease"; rdfs:comment "preferred label from MONDO" . _:6400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "virus infection"; "CSP2005:3099-8150", "DOID:934" . _:6401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infections, Viruses"; "MONDO:patterns/infectious_disease_by_agent" . a owl:Class; rdfs:subClassOf , , ; "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.", "An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.", "Inflammation of a muscle or muscle tissue."; "James Malone", "Tomasz Adamusiak"; , , , ; , , , ; "true"; "COHD:73001", "DOID:633", "ICD10:G72.49", "ICD10:M60", "ICD10:M60.9", "ICD9:728.9", "MESH:D009220", "MONDO:0021167", "MSH:D009220", "NCIT:C27578", "NCIt:C27578", "OMIM:160750", "SCTID:128496001", "SNOMEDCT:128496001", "SNOMEDCT:26889001", "UMLS_CUI:C0027121"; "Focal Myositides", "Focal Myositis", "IDIOPATHIC INFLAMM MYOPATHIES", "INFECT MYOSITIS", "INFLAMM MUSCLE DIS", "INFLAMM MYOPATHIES IDIOPATHIC", "INFLAMM MYOPATHY", "Idiopathic Inflammatory Myopathies", "Idiopathic Inflammatory Myopathy", "Infectious Myositides", "Infectious Myositis", "Inflammatory Muscle Disease", "Inflammatory Muscle Diseases", "Inflammatory Myopathies", "Inflammatory Myopathies, Idiopathic", "Inflammatory Myopathy, Idiopathic", "Inflammatory disorder of muscle", "Inflammatory disorder of muscle (disorder)", "Inflammatory myopathy", "MUSCLE DIS INFLAMM", "MUSCLE/LIGAMENT DIS NOS", "MYALGIA AND MYOSITIS NOS", "MYOPATHIES IDIOPATHIC INFLAMM", "MYOPATHY INFLAMM", "MYOSITIS INFECT", "Muscle Disease, Inflammatory", "Muscle Diseases, Inflammatory", "Muscle inflammation", "Mylagia and myositis, unspecified", "Myopathies, Idiopathic Inflammatory", "Myopathies, Inflammatory", "Myopathy, Idiopathic Inflammatory", "Myopathy, Inflammatory", "Myositides", "Myositides, Focal", "Myositides, Infectious", "Myositides, Proliferative", "Myositis (disorder)", "Myositis NOS", "Myositis unspecified", "Myositis unspecified (disorder)", "Myositis, Focal", "Myositis, Infectious", "Myositis, NOS", "Myositis, Proliferative", "Proliferative Myositides", "Proliferative Myositis", "Unspecified disorder of muscle, ligament, and fascia", "inflammation of muscle tissue", "inflammatory disorder of muscle", "inflammatory disorder of muscle (disorder)", "muscle tissue inflammation", "myositis"; "EFO:0000783"; rdfs:label "myositis" . _:6417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue."; "MONDO:patterns/inflammatory_disease_by_site" . _:641ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:73001"; "MONDO:equivalentTo" . _:641bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:633"; "EFO:0000783", "MONDO:equivalentTo" . _:641cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G72.49"; "DOID:633" . _:641ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M60"; "DOID:633" . _:6421d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M60.9"; "DOID:633" . _:6422d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:728.9"; "EFO:0000783" . _:6423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009220"; "DOID:633", "EFO:0000783", "MONDO:equivalentTo" . _:6425d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27578"; "DOID:633", "EFO:0000783", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:6426d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128496001"; "DOID:633", "EFO:0000783", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.06" . _:6427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS_CUI:C0027121"; "DOID:633" . _:6428d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory disorder of muscle"; "DOID:633" . _:6429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle tissue inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:642ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myositis"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disease involving the sensory system.", "A sensory system disease is a disease which has as location the sensory system."; "James Malone"; ; ; "DOID:0050155", "MONDO:0005128"; "disease of sensory system", "disease or disorder of sensory system", "disorder of sensory system", "sensory disease", "sensory system disease", "sensory system disease or disorder"; "disorder of sensory system"; "EFO:0001058"; rdfs:label "sensory system disease" . _:6431d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the sensory system."; "MONDO:DesignPattern" . _:6432d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:0050155", "EFO:0001058" . _:6433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050155"; "EFO:0001058", "MONDO:equivalentTo" . _:6434d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of sensory system"; "MONDO:patterns/location_top" . _:6435d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sensory system"; "MONDO:patterns/location_top" . _:6436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sensory disease"; "DOID:0050155" . _:6437d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sensory system disease"; "MONDO:patterns/location" . _:6439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sensory system disease"; rdfs:comment "preferred label from MONDO" . _:643bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sensory system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:643dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sensory system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)", "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)", "Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)"; "James Malone", "Tomasz Adamusiak"; , , , , ; , , , ; "true"; "COHD:375545", "DOID:83", "HP:0000518", "ICD10:H26", "ICD9:366", "ICD9:366.44", "ICD9:366.8", "ICD9:366.9", "MESH:D002386", "MONDO:0005129", "MSH:D002386", "NCIT:C26713", "NCIt:C26713", "OMIM:115900", "OMIM:116100", "OMIM:616279", "OMIM:616509", "OMIMPS:116200", "SCTID:193570009", "SNOMEDCT:128306009", "SNOMEDCT:193570009"; "CATARACT NEC", "CATARACT W RADIATION", "CATARACT W SYNDROME NEC", "Cat. - Cataract", "Cataract (M-54510)", "Cataract (disorder)", "Cataract (morphologic abnormality)", "Cataract NOS", "Cataract NOS (disorder)", "Cataract associated with other disorders", "Cataract associated with other syndromes", "Cataract associated with other syndromes (disorder)", "Cataract associated with radiation and other physical influences", "Cataract form", "Cataract form (observable entity)", "Cataract, Membranous", "Cataracts", "Cataracts, Membranous", "Lens Opacities", "Lens Opacity", "Lenticular opacity", "Membranous Cataract", "Membranous Cataracts", "Opacities, Lens", "Opacity, Lens", "Other cataract", "Other cataract (disorder)", "Other cataract NOS", "Other cataract NOS (disorder)", "Pseudoaphakia", "Pseudoaphakias", "Unspecified cataract", "cataract", "cataract (disease)", "cataracts", "opacity of the lens"; "EFO:0001059"; rdfs:label "cataract" . _:644ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)"; "NCIT:C26713" . _:644bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:375545"; "MONDO:equivalentTo" . _:644cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:83"; "EFO:0001059", "MONDO:equivalentTo" . _:644dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000518"; "MONDO:otherHierarchy", "ontobio" . _:6451d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H26"; "DOID:83" . _:6453d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:366"; "EFO:0001059" . _:6456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:366.44"; "MONDO:relatedTo", "i2s" . _:6458d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:366.8"; "DOID:83", "MONDO:relatedTo", "i2s" . _:645cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:366.9"; "MONDO:equivalentTo", "i2s" . _:645ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002386"; "DOID:83", "EFO:0001059", "MONDO:equivalentTo", "MONDO:ontobio" . _:645fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26713"; "EFO:0001059", "MONDO:equivalentTo", "NCIT:C26713" . _:6460d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115900"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6461d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616279"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6462d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616509"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6463d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:116200"; "MONDO:cjm", "MONDO:equivalentTo" . _:6464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:193570009"; "EFO:0001059", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:6465d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cataract"; "MONDO:ambiguous" . _:6468d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cataract (disease)"; rdfs:comment "preferred label from MONDO" . _:646cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "opacity of the lens"; "NCIT:C26713" . a owl:Class; rdfs:subClassOf ; "Any condition related to a disturbance between proper intake and utilization of nourishment."; "James Malone"; , ; , , , , ; , ; "DOID:374", "ICD9:783.9", "MESH:D009748", "MONDO:0005137", "MSH:D009748", "MSH:D044342", "NCIT:C26836", "NCIt:C26836", "SCTID:2492009", "SNOMEDCT:2492009", "UMLS:C3714509"; "Disorder of nutrition", "Malnutrition", "NUTRITION DIS", "NUTRITIONAL DIS", "Nutrition Disorders", "Nutrition disorder", "Nutritional Disorders", "Nutritional disease", "Nutritional disease, NOS", "Nutritional disorder (disorder)", "Nutritional disorder, NOS", "nutrition disease", "nutritional disorder"; "nutrition disease"; "EFO:0001069"; rdfs:label "nutritional disorder" . _:6476d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any condition related to a disturbance between proper intake and utilization of nourishment."; "NCIT:C26836" . _:6479d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C26836" . _:647ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:374" . _:647bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:374"; "EFO:0001069", "MONDO:equivalentTo" . _:647cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:783.9"; "MONDO:relatedTo", "i2s" . _:647dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009748"; "DOID:374", "EFO:0001069", "MONDO:equivalentTo", "MONDO:ontobio" . _:647ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26836"; "DOID:374", "EFO:0001069", "MONDO:equivalentTo", "exact-label-match" . _:647fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:2492009"; "DOID:374", "EFO:0001069", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.54" . _:6480d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3714509"; "DOID:374", "MONDO:equivalentTo", "NCIT:C26836" . _:6481d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nutritional disorder"; "DOID:374", "NCIT:C26836" . _:6483d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nutritional disorder"; rdfs:comment "preferred label from MONDO" . _:6485d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nutrition disease"; "DOID:374" . a owl:Class; rdfs:subClassOf ; "A disorder involving an excessive amount of body fat.", "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).", "An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher."; "James Malone", "Tomasz Adamusiak"; , , , , , ; , , , ; "true"; "COHD:433736", "DOID:9970", "HP:0001513", "ICD10:E66", "ICD10:E66.9", "ICD9:278.0", "ICD9:278.00", "MONDO:0011122", "MSH:D009765", "NCIT:C3283", "NCIt:C3283", "NIFSTD:nlx_dys_20090302", "OMIM:601665", "SCTID:414916001", "SNOMEDCT:414916001", "UMLS:C0028754"; "Adiposis", "Adiposity", "Obese", "Obese (finding)", "Obesity (disorder)", "Obesity NOS", "Obesity [Ambiguous]", "Obesity, unspecified", "Overweight and obesity", "obesity", "obesity disease", "obesity disorder"; "leanness"; "EFO:0001073"; rdfs:comment "Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes"; rdfs:label "obesity" . _:6491d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder involving an excessive amount of body fat."; "https://www.ama-assn.org/sites/default/files/media-browser/public/about-ama/councils/Council%20Reports/council-on-science-public-health/a13csaph3.pdf", "https://www.mayoclinic.org/diseases-conditions/obesity/symptoms-causes/syc-20375742" . _:6494d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:433736"; "MONDO:equivalentTo" . _:6496d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9970"; "EFO:0001073", "MONDO:equivalentTo" . _:6498d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001513"; "MONDO:otherHierarchy", "ontobio" . _:649ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E66.9"; "DOID:9970" . _:649bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:278.0"; "EFO:0001073", "MONDO:equivalentTo", "i2s" . _:649ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:278.00"; "DOID:9970", "EFO:0001073", "MONDO:equivalentTo", "i2s" . _:64a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3283"; "DOID:9970", "EFO:0001073", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.83/11.72", "MONDO:otherHierarchy" . _:64a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIFSTD:nlx_dys_20090302"; "EFO:0001073" . _:64a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:414916001"; "DOID:9970", "EFO:0001073", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:64a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0028754"; "DOID:9970", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:601665" . _:64a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obesity"; "MONDO:ambiguous", "OMIM:601665" . _:64a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obesity disorder"; rdfs:comment "preferred label from MONDO" . _:64aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leanness"; "OMIM:601665"; . a owl:Class; rdfs:subClassOf ; "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms.", "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002"; "James Malone", "Tomasz Adamusiak"; ; , ; "true"; "DOID:4001", "MONDO:0005140", "MSH:D010051", "NCIT:C4908", "NCIt:C4908", "OMIM:167000"; "carcinoma of ovary", "carcinoma of the ovary", "epithelial ovarian cancer", "ovarian cancer", "ovarian carcinoma", "ovarian epithelial cancer", "ovary carcinoma"; "EFO:0001075"; rdfs:comment "Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT."; rdfs:label "ovarian carcinoma" . _:64b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002"; "NCIT:C4908" . _:64b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4001"; "EFO:0001075", "MONDO:equivalentTo" . _:64b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4908"; "DOID:4001", "EFO:0001075", "MONDO:equivalentTo" . _:64b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of ovary"; "MONDO:patterns/carcinoma", "NCIT:C4908" . _:64b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the ovary"; "NCIT:C4908" . _:64b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial ovarian cancer"; "NCIT:C4908" . _:64bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian cancer"; "NCIT:C4908" . _:64bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian carcinoma"; "DOID:4001", "NCIT:C4908" . _:64bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian carcinoma"; rdfs:comment "preferred label from MONDO" . _:64bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian epithelial cancer"; "NCIT:C4908" . _:64c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary carcinoma"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , , ; "A chronic condition characterized by minimal or absent production of insulin by the pancreas.", "A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.", "An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas.", "Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence."; "James Malone", "Tomasz Adamusiak"; , , , , , ; , , , ; "true"; "COHD:201254", "DOID:9744", "ICD10:E10", "KEGG:04940", "MESH:D003922", "MONDO:0005147", "MSH:D003922", "NCIT:C2986", "NCIt:C2986", "OMIM:125852", "OMIM:222100", "OMIM:601388", "OMIM:601942", "OMIM:610155", "OMIM:611895", "OMIM:612520", "OMIM:612522", "SCTID:46635009", "SNOMEDCT:11530004", "SNOMEDCT:46635009"; "Autoimmune Diabete", "Autoimmune Diabetes", "Brittle Diabetes Mellitus", "DIABETES MELLITUS TYPE 01", "DMI UNSPF NT ST UNCNTRLD", "DMI UNSPF UNCNTRLD", "Diabete, Autoimmune", "Diabetes Mellitus, Brittle", "Diabetes Mellitus, Insulin Dependent", "Diabetes Mellitus, Insulin-Dependent", "Diabetes Mellitus, Juvenile Onset", "Diabetes Mellitus, Juvenile-Onset", "Diabetes Mellitus, Ketosis Prone", "Diabetes Mellitus, Ketosis-Prone", "Diabetes Mellitus, Sudden Onset", "Diabetes Mellitus, Sudden-Onset", "Diabetes Mellitus, Type 1", "Diabetes Mellitus, Type I", "Diabetes mellitus type 1", "Diabetes mellitus type 1 (disorder)", "Diabetes mellitus type I", "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with unspecified complication", "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], uncontrolled, with unspecified complication", "Diabetes, Autoimmune", "IDDM", "IDDM - Insulin-dependent diabetes mellitus", "Insulin Dependent Diabetes", "Insulin dependent diabetes mellitus", "Insulin-Dependent Diabetes Mellitus", "Juvenile Diabetes", "Juvenile onset diabetes mellitus", "Juvenile-Onset Diabetes Mellitus", "Ketosis-Prone Diabetes Mellitus", "Mellitus, Sudden-Onset Diabetes", "Sudden-Onset Diabetes Mellitus", "Type 1 Diabetes", "Type 1 Diabetes Mellitus", "Type I Diabetes", "diabetes mellitis type 1", "diabetes mellitis type I", "immune mediated diabetes", "insulin dependent diabetes", "insulin dependent diabetes mellitus", "insulin-dependent diabetes mellitus", "juvenile diabetes", "type 1 diabetes", "type 1 diabetes mellitus", "type I diabetes", "type I diabetes mellitus"; "EFO:0001359"; rdfs:label "type I diabetes mellitus" . _:64dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A chronic condition characterized by minimal or absent production of insulin by the pancreas."; "NCIT:C2986" . _:64dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:201254"; "MONDO:equivalentTo" . _:64ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9744"; "EFO:0001359", "MONDO:equivalentTo" . _:64ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E10"; "DOID:9744" . _:64e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:04940"; "DOID:9744", "MONDO:equivalentTo" . _:64e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003922"; "DOID:9744", "EFO:0001359", "MONDO:equivalentTo" . _:64e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2986"; "DOID:9744", "EFO:0001359", "MONDO:equivalentTo" . _:64e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:125852"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:64e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601388"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:64e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601942"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:64e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610155"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:64e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612520"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:64ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612522"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:64ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:46635009"; "DOID:9744", "EFO:0001359", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.74/0.44" . _:64ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDDM"; "DOID:9744"; . _:64edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune mediated diabetes"; "NCIT:C2986" . _:64eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin dependent diabetes"; "NCIT:C2986"; . _:64f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin dependent diabetes mellitus"; "NCIT:C2986"; . _:64f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-dependent diabetes mellitus"; "DOID:9744"; . _:64f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "juvenile diabetes"; "NCIT:C2986"; . _:64f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type 1 diabetes"; "NCIT:C2986" . _:64f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type 1 diabetes mellitus"; rdfs:comment "preferred label from MONDO" . _:64fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type I diabetes"; "NCIT:C2986" . _:64fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type I diabetes mellitus"; "DOID:9744" . a owl:Class; rdfs:subClassOf , ; "A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA.", "Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.", "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term)."; "James Malone"; ; , , , , , , ; "true"; "DOID:6432", "GARD:0007501", "MSH:D006976", "MedDRA:10064911", "NCIt:C3120", "OMIM:615371", "Orphanet:182090", "SCTID:11399002", "SNOMEDCT:70995007", "UMLS:C2973725", "UMLS:CN200519"; "Ayerza Arrilaga Syndrome", "Ayerza Syndrome", "Ayerza's Syndrome", "Ayerza-Arrilaga Syndrome", "Ayerzas Syndrome", "HYPERTENSION PULM", "Hypertension, Pulmonary", "PAH", "PHT - Pulmonary hypertension", "PULM HYPERTENSION", "Pulmonary hypertension, NOS", "Syndrome, Ayerza", "Syndrome, Ayerza-Arrilaga", "pulmonary arterial hypertension", "pulmonary hypertension", "pulmonary hypertension (disorder)"; "PPH", "idiopathic pulmonary hypertension"; "EFO:0001361"; ; rdfs:label "pulmonary arterial hypertension" . _:6507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term)."; "Orphanet:182090" . _:650ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007501"; "MONDO:equivalentTo", "Orphanet-shared" . _:650cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064911"; "ORDO:182090/e", "Orphanet:182090" . _:650fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182090"; "MONDO:equivalentTo" . _:6511d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:11399002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.75/1.31" . _:6513d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2973725"; "MONDO:equivalentTo", "Orphanet:182090" . _:6516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200519"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:6518d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAH"; "Orphanet:182090" . _:6519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary arterial hypertension"; rdfs:comment "preferred label from MONDO" . _:651bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPH"; "GARD:0007501" . _:651cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic pulmonary hypertension"; "GARD:0007501" . _:651dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182090" . a owl:Class; rdfs:subClassOf ; "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.", "Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.", "Degenerative changes in the macula lutea of the retina."; "James Malone", "Tomasz Adamusiak"; , , , , ; , , , , , ; "true"; "COHD:374028", "DOID:10871", "DOID:4448", "ICD10:H35.30", "ICD9:362.50", "MONDO:0005150", "MSH:D008268", "NCIT:C84391", "NCIt:C25416", "NCIt:C84391", "NIFSTD:birnlex_12812", "OMIM:153800", "OMIM:603075", "OMIM:608895", "OMIM:610149", "OMIM:610698", "OMIM:611378", "OMIM:611488", "OMIM:611953", "OMIM:613757", "OMIM:613761", "OMIM:613778", "OMIM:613784", "OMIM:615439", "OMIM:615489", "OMIM:615591", "OMIM:616118", "OMIM:616170", "OMIMPS:603075", "Orphanet:279", "SCTID:267718000", "SNOMEDCT:267718000", "UMLS:C0242383"; "AAMD - Age related macular degeneration", "AGE RELAT MACULOPATHIES", "AGE RELAT MACULOPATHY", "AMD", "AMD - Age-related macular degeneration", "ARMD", "ARMD - Age-related macular degeneration", "Age Related Macular Degeneration", "Age Related Maculopathies", "Age related macular degeneration (disorder) [Ambiguous]", "Age related maculopathy", "Age-Related Macular Degenerations", "Age-Related Maculopathies", "Age-Related Maculopathy", "Age-related macular degeneration (disorder)", "Amended", "Degeneration, Age-Related Macular", "Degeneration, Macular", "Degenerations, Age-Related Macular", "Degenerations, Macular", "Dystrophies, Macular", "Dystrophy, Macular", "MACULAR DEGENERATION NOS", "MACULOPATHIES AGE RELAT", "MACULOPATHY AGE RELAT", "Macular Degeneration", "Macular Degeneration, Age-Related", "Macular Degenerations", "Macular Degenerations, Age-Related", "Macular Dystrophies", "Macular Dystrophy", "Macular degeneration (disorder)", "Macular degeneration (senile) of retina, unspecified", "Maculopathies, Age Related", "Maculopathies, Age-Related", "Maculopathy, Age Related", "Maculopathy, Age-Related", "SMD - Senile macular degeneration", "Senile macular degeneration", "Senile macular degeneration of retina", "Senile macular retinal degeneration", "Unspecified senile macular degeneration", "age related Maculopathies", "age related maculopathy", "age-related macular degeneration", "macular degeneration, age-related"; "age related macular degeneration"; "EFO:0001365"; rdfs:label "age-related macular degeneration" . _:6529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."; "NCIT:P378" . _:652ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:374028"; "MONDO:equivalentTo" . _:652bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10871"; "EFO:0001365", "MONDO:equivalentTo" . _:652cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.30"; "DOID:10871" . _:6530d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.50"; "DOID:10871" . _:6532d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84391"; "DOID:10871", "EFO:0001365", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:6535d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIFSTD:birnlex_12812"; "EFO:0001365" . _:6537d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616118"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6538d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616170"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:653ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:603075"; "DOID:10871", "MONDO:equivalentTo" . _:653dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:279"; "MONDO:equivalentTo", "https://github.com/monarch-initiative/monarch-disease-ontology/issues/413" . _:653fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:267718000"; "DOID:10871", "EFO:0001365", "MONDO:equivalentTo" . _:6540d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242383"; "DOID:10871", "MONDO:equivalentTo", "NCIT:C84391" . _:6542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMD"; "NCIT:C84391" . _:6543d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARMD"; "NCIT:C84391" . _:6545d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Senile macular degeneration"; "DOID:10871" . _:6548d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Senile macular retinal degeneration"; "DOID:10871" . _:654ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "age related Maculopathies"; "DOID:10871" . _:654bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "age related maculopathy"; "DOID:10871" . _:654fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "age-related macular degeneration"; "DOID:10871" . _:6551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "age-related macular degeneration"; rdfs:comment "preferred label from MONDO" . _:6553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macular degeneration, age-related"; "OMIMPS:603075" . _:6555d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "age related macular degeneration"; "DOID:10871" . a owl:Class; rdfs:subClassOf ; "A disease involving the endocrine system.", "Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs.", "Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES."; "James Malone"; , , , , , , , , , , , ; , , , , ; "DOID:28", "ICD10:E34", "ICD10:E34.9", "ICD9:259.8", "ICD9:259.9", "MESH:D004700", "MONDO:0005151", "MSH:D004700", "NCIT:C3009", "NCIt:C27565", "NCIt:C3009", "SCTID:362969004", "SNOMEDCT:362969004", "SNOMEDCT:84452004", "UMLS:C0014130"; "DIS ENDOCRINE SYSTEM", "Disease of endocrine gland", "Disease, Endocrine", "Disease, Endocrine System", "Diseases of Endocrine System", "Diseases, Endocrine", "Diseases, Endocrine System", "Disorder of endocrine gland", "Disorder of endocrine system", "Disorder of endocrine system (disorder)", "ENDOCRINE DIS", "ENDOCRINE DISORDER NOS", "ENDOCRINE DISORDERS", "ENDOCRINE SYSTEM DIS", "Endocrine Diseases", "Endocrine Diseases and Manifestations", "Endocrine System Diseases", "Endocrine System Disorder", "Endocrine disease", "Endocrine disorder", "Endocrine disorder NOS (disorder)", "Endocrine disturbance", "Endocrine disturbance NOS", "Endocrine disturbance NOS (disorder)", "Endocrine gland disease NOS", "Endocrine gland disease NOS (disorder)", "Endocrinopathy", "Endocrinopathy, NOS", "Hormone abnormality", "Hormone abnormality (finding)", "Hormone disorders", "Hormone disturbance", "Hormone disturbance NOS", "System Disease, Endocrine", "System Diseases, Endocrine", "Unspecified endocrine disorder", "disease of endocrine system", "disease or disorder of endocrine system", "disorder of endocrine system", "endocrine disease", "endocrine disorder", "endocrine system disease", "endocrine system disease or disorder", "endocrine system disorder", "endocrinopathy", "thyroid or other glandular disorders"; "disorder of endocrine system"; "EFO:0001379"; rdfs:label "endocrine system disease" . _:6566d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the endocrine system."; "MONDO:DesignPattern" . _:6567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:28"; "EFO:0001379", "MONDO:equivalentTo" . _:6569d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.9"; "DOID:28" . _:656ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:259.8"; "MONDO:relatedTo", "i2s" . _:656dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:259.9"; "DOID:28", "EFO:0001379", "MONDO:equivalentTo", "i2s" . _:656fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004700"; "DOID:28", "EFO:0001379", "MONDO:equivalentTo", "MONDO:ontobio" . _:6570d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3009"; "DOID:28", "EFO:0001379", "MONDO:equivalentTo" . _:6571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:362969004"; "DOID:28", "EFO:0001379", "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.92/0.38" . _:6572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014130"; "DOID:28", "MONDO:equivalentTo", "NCIT:C3009" . _:6573d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of endocrine system"; "MONDO:patterns/location_top" . _:6574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of endocrine system"; "MONDO:patterns/location_top", "NCIT:C3009" . _:6575d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine disease"; "DOID:28", "NCIT:C3009" . _:6576d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine disorder"; "NCIT:C3009" . _:6577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine system disease"; "MONDO:patterns/location" . _:6578d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine system disease"; rdfs:comment "preferred label from MONDO" . _:6579d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:657ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine system disorder"; "NCIT:C3009" . _:657cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrinopathy"; "NCIT:C3009" . _:657ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid or other glandular disorders"; "NCIT:C3009" . _:6582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of endocrine system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.", "Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions."; "James Malone", "Tomasz Adamusiak"; , , , ; , , , , ; "COHD:4254542", "DOID:9406", "GARD:0002917", "ICD10:E23", "ICD10:E23.0", "MESH:D007018", "MONDO:0005152", "MSH:D007018", "NCIT:C62591", "NCIt:C62591", "OMIM:262600", "SCTID:74728003", "SNOMEDCT:74728003", "UMLS:C0020635"; "ADENOHYPOPHYSEAL HYPOSECRET", "ANTERIOR PITUITARY HYPOSECRET SYNDROME", "Adenohypophyseal Hyposecretion", "Anterior Pituitary Hyposecretion Syndrome", "Deficient secretion of one OR more pituitary hormones", "Disease, Simmonds", "HYPOSECRET ADENOHYPOPHYSEAL", "HYPOSECRET SYNDROME ANTERIOR PITUITARY", "Hypopituitarism (disorder)", "Hypopituitarism NOS", "Hypopituitarism NOS (disorder)", "Hypopituitarism, NOS", "Hypopituitarism, Postpartum", "Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism]", "Hyposecretion Syndrome, Anterior Pituitary", "Hyposecretion, Adenohypophyseal", "Insufficiency, Pituitary", "Pituitary Insufficiency, Postpartum", "Pituitary failure", "Pituitary hypofunction", "Pituitary insufficiency", "Pituitary insufficiency, NOS", "Postpartum Hypopituitarism", "Postpartum Pituitary Insufficiency", "SIMMONDS DIS", "Simmond's Disease", "Simmonds Disease", "Simmonds' Disease", "hypopituitarism", "pituitary hormone deficiency", "pituitary insufficiency"; "pituitary hypofunction"; "EFO:0001380"; ; rdfs:label "hypopituitarism"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism"^^xsd:anyURI . _:658fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions."; "NCIT:C62591" . _:6591d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4254542"; "MONDO:equivalentTo" . _:6593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9406"; "EFO:0001380", "MONDO:equivalentTo" . _:6594d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002917"; "MONDO:equivalentTo" . _:6595d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "DOID:9406", "MONDO:equivalentTo" . _:6596d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007018"; "DOID:9406", "EFO:0001380", "MONDO:equivalentTo" . _:6598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C62591"; "DOID:9406", "EFO:0001380", "MONDO:equivalentTo", "exact-label-match" . _:659ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:74728003"; "DOID:9406", "EFO:0001380", "MONDO:equivalentTo" . _:659cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020635"; "DOID:9406", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C62591" . _:659ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypopituitarism"; rdfs:comment "preferred label from MONDO" . _:65a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary hormone deficiency"; "DOID:9406" . _:65a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary insufficiency"; "DOID:9406", "MTHICD9_2006:253.2" . _:65a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary hypofunction"; "DOID:9406" . _:65a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002917" . _:65a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism"^^xsd:anyURI; "GARD:0002917" . a owl:Class; rdfs:subClassOf , , ; "A disease involving the liver.", "Any disease or dysfunction of the liver and the intrahepatic bile ducts.", "Pathological processes of the LIVER."; "James Malone"; , , , , , , , , ; , , , , , ; "true"; "COHD:194984", "DOID:409", "ICD10:K70-K77", "ICD10:K75", "ICD10:K76", "ICD10:K76.9", "ICD9:573.8", "ICD9:573.9", "MESH:D008107", "MONDO:0005154", "MSH:D008107", "NCIT:C3196", "NCIt:C3196", "NCIt:C50634", "SCTID:235856003", "SNOMEDCT:15230009", "SNOMEDCT:199117000", "SNOMEDCT:235856003", "UMLS:C0023895"; "Disease of liver", "Disease, Liver", "Diseases, Liver", "Disorder of liver", "Dysfunction, Liver", "Dysfunctions, Liver", "Hepatopathy", "LD - Liver disease", "LIVER DIS", "Liver Diseases", "Liver Disorder", "Liver Dysfunction", "Liver Dysfunctions", "Liver and Intrahepatic Bile Duct Disorder", "Liver disorder NOS", "Liver disorder NOS (disorder)", "Liver disorder in pregnancy", "Liver disorder in pregnancy (disorder)", "Liver disorder in pregnancy - delivered (disorder)", "Liver disorder in pregnancy NOS (disorder)", "Liver disorder in pregnancy unspecified (disorder)", "Liver disorder in pregnancy, unspecified as to episode of care", "Liver disorder in pregnancy, with delivery", "Unspecified disorder of liver", "[X]Diseases of the liver", "[X]Diseases of the liver (disorder)", "disease of liver", "disease of liver [Ambiguous]", "disease of the liver (disorder)", "disease or disorder of liver", "disorder of liver", "disorder of liver (disorder)", "hepatic disease", "hepatic disorder", "liver and intrahepatic bile duct disorder", "liver disease", "liver disease or disorder", "liver disorder", "liver disorder antepartum", "liver disorder in pregnancy - delivered"; "disorder of liver"; "EFO:0001421"; rdfs:label "liver disease" . _:65b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the liver."; "MONDO:DesignPattern" . _:65b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:194984"; "MONDO:equivalentTo" . _:65b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:409"; "EFO:0001421", "MONDO:equivalentTo" . _:65d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K70-K77"; "DOID:409" . _:65d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K76.9"; "DOID:409" . _:65d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:573.8"; "MONDO:relatedTo", "i2s" . _:65d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:573.9"; "DOID:409", "EFO:0001421", "MONDO:equivalentTo", "i2s" . _:65d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008107"; "DOID:409", "EFO:0001421", "MONDO:equivalentTo", "MONDO:ontobio" . _:65dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3196"; "DOID:409", "EFO:0001421", "MONDO:equivalentTo" . _:65dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:235856003"; "DOID:409", "EFO:0001421", "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.92/0.38" . _:65ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023895"; "DOID:409", "MONDO:equivalentTo" . _:65dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of liver"; "MONDO:patterns/location_top" . _:65e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of liver"; "MONDO:patterns/location_top" . _:65e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatic disease"; "DOID:409" . _:65e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatic disorder"; "DOID:409", "NCIT:C3196" . _:65e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver and intrahepatic bile duct disorder"; "NCIT:C3196" . _:65ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver disease"; "MONDO:patterns/location" . _:65ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver disease"; rdfs:comment "preferred label from MONDO" . _:65edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:65eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver disorder"; "NCIT:C3196" . _:65efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of liver"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature.", "Inflammation of the brain and the spinal cord."; "Gautier Koscielny", "James Malone"; , , , , , , , ; , , , , ; "DOID:640", "ICD9:323.9", "MESH:D004679", "MONDO:0005156", "MSH:D004679", "NCIT:C34580", "NCIt:C34580", "SCTID:62950007", "SNOMEDCT:62950007", "UMLS:C0014070"; "ENCEPH INFLAMM", "Encephalitis &/or myelitis", "Encephalitis/myelitis NOS", "Encephalitis/myelitis NOS (disorder)", "Encephalomyelitis (disorder)", "Encephalomyelitis NOS", "Encephalomyelitis NOS (disorder)", "Encephalomyelitis, Inflammatory", "Encephalomyelitis, NOS", "INFLAMM ENCEPH", "Inflammatory Encephalomyelitis", "MYELOENCEPH", "Myeloencephalitides", "Myeloencephalitis", "central nervous system inflammation", "encephalitis", "encephalitis &/or myelitis", "encephalitis and/or myelitis", "encephalomyelitis", "inflammation of central nervous system"; "EFO:0001423"; rdfs:label "encephalomyelitis" . _:65f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammation of the brain and the spinal cord."; "NCIT:P378" . _:65f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:65f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:640"; "EFO:0001423", "MONDO:equivalentTo" . _:65f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:323.9"; "MONDO:relatedTo", "i2s" . _:65f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004679"; "DOID:640", "EFO:0001423", "MONDO:equivalentTo", "MONDO:ontobio" . _:65fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34580"; "DOID:640", "EFO:0001423", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:65ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:62950007"; "DOID:640", "EFO:0001423", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/15.01" . _:6602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014070"; "DOID:640", "MONDO:equivalentTo", "NCIT:C34580" . _:6604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:6606d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephalitis &/or myelitis"; "DOID:640" . _:6608d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephalitis and/or myelitis"; "DOID:640" . _:660ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephalomyelitis"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument."; "James Malone", "Jie Zheng", "Tomasz Adamusiak"; "true"; "MO:144", "NCIt:C25209", "NIFSTD:sao279801585", "SNOMEDCT:122869004"; rdfs:label "measurement" . a owl:Class; rdfs:subClassOf ; "A carcinoma that arises from epithelial cells of the prostate gland.", "One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease. -- 2002"; "James Malone", "Tomasz Adamusiak"; , , ; , , ; "true"; "DOID:10286", "ICD10:C61", "KEGG:05215", "MONDO:0005159", "NCIT:C4863", "NCIt:C4863", "OMIM:176807", "SNOMEDCT:254900004", "UMLS:C0600139"; "Carcinoma of Prostate", "Carcinoma of the Prostate", "carcinoma of prostate", "carcinoma of prostate gland", "carcinoma of the prostate", "prostate carcinoma", "prostate gland carcinoma"; "cancer of prostate", "cancer of the prostate", "prostate cancer", "prostate cancer, NOS"; "EFO:0001663"; rdfs:comment "DOID:10286"; rdfs:label "prostate carcinoma" . _:6610d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carcinoma that arises from epithelial cells of the prostate gland."; "MONDO:DesignPattern" . _:6611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10286"; "EFO:0001663", "MONDO:equivalentTo" . _:6612d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05215"; "DOID:10286", "MONDO:equivalentTo" . _:6613d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4863"; "DOID:10286", "EFO:0001663", "MONDO:equivalentTo" . _:6616d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0600139"; "DOID:10286", "MONDO:equivalentTo", "NCIT:C4863" . _:6619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of prostate"; "NCIT:C4863" . _:661ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of prostate gland"; "MONDO:patterns/carcinoma" . _:661cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the prostate"; "NCIT:C4863" . _:661ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate carcinoma"; "NCIT:C4863" . _:6620d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate carcinoma"; rdfs:comment "preferred label from MONDO" . _:6622d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate gland carcinoma"; "MONDO:patterns/location" . _:6623d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of prostate"; "NCIT:C4863" . _:6624d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the prostate"; "NCIT:C4863" . _:6626d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate cancer"; "NCIT:C4863" . _:6627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate cancer, NOS"; "NCIT:C4863" . a owl:Class; rdfs:subClassOf ; "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites."; "James Malone", "Sirarat Sarntivijai", "Tomasz Adamusiak"; , ; , , , , ; "DOID:0060072", "DOID:0060084", "DOID:0060085", "ICD10:D10.D36", "ICD10:D36", "ICD9:210-229.99", "ICD9:229.8", "ICD9:229.9", "ICDO:8000/0", "MONDO:0005165", "NCIT:C3677", "NCIt:C3677", "SCTID:20376005", "SNOMEDCT:3898006"; "BENIGN NEOPL", "Benign Neoplasm", "Benign Neoplasms", "NEOPL BENIGN", "Neoplasm, Benign", "Neoplasms, Benign", "benign neoplasm", "benign neoplasm (disease)", "benign tumor", "neoplasm (disease), benign"; "benign tumor", "benign unclassifiable tumor", "cell type benign neoplasm", "neoplasm, benign", "organ system benign neoplasm"; "EFO:0002422"; rdfs:comment "Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14"; rdfs:label "benign neoplasm" . _:662ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites."; "NCIT:C3677" . _:662bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060072"; "EFO:0002422", "MONDO:equivalentTo" . _:662dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060084"; "MONDO:equivalentTo" . _:662ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060085"; "MONDO:equivalentTo" . _:6630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D10.D36"; "MONDO:equivalentTo" . _:6631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:210-229.99"; "EFO:0002422" . _:6633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:229.8"; "i2s" . _:6635d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:229.9"; "i2s" . _:6637d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8000/0"; "NCIT:C3677" . _:6639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3677"; "EFO:0002422", "MONDO:equivalentTo" . _:663bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:20376005"; "MONDO:equivalentTo" . _:663cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neoplasm"; "NCIT:C3677" . _:663ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign neoplasm"; rdfs:comment "preferred label from MONDO" . _:6640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm (disease), benign"; "MONDO:patterns/benign" . _:6641d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumor"; "NCIT:C3677" . _:6643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign unclassifiable tumor"; "NCIT:C3677" . _:6645d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cell type benign neoplasm"; "DOID:0060084" . _:6646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm, benign"; "NCIT:C3677" . _:6648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "organ system benign neoplasm"; "DOID:0060085" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.", "Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)"; "James Malone", "Tomasz Adamusiak"; "DOID:1192", "MSH:D010524", "NCIt:C3321", "SNOMEDCT:126980002"; "Neoplasm of PNS", "Neoplasm of Peripheral Nerve", "Neoplasm of Peripheral Nervous System", "Neoplasm of the PNS", "Neoplasm of the Peripheral Nerve", "Neoplasm of the Peripheral Nervous System", "Neoplasm, Peripheral Nerve", "Neoplasms, PNS", "Neoplasms, Peripheral Nerve", "Neoplasms, Peripheral Nervous System", "Nerve Neoplasm, Peripheral", "Nerve Neoplasms, Peripheral", "Nerve Tumor, Peripheral", "Nerve Tumors, Peripheral", "PERIPHERAL NERVE NEOPL", "PERIPHERAL NERVE NEOPL BENIGN", "PERIPHERAL NERVE NEOPL INFILTRATION", "PERIPHERAL NERVE NEOPL MALIGNANT", "PNS BENIGN NEOPL", "PNS MALIGNANT NEOPL", "PNS NEOPL", "PNS Neoplasm", "PNS Neoplasms", "PNS Tumor", "Peripheral Nerve Neoplasm", "Peripheral Nerve Neoplasms", "Peripheral Nerve Neoplasms, Benign", "Peripheral Nerve Neoplasms, Malignant", "Peripheral Nerve Neoplastic Infiltration", "Peripheral Nerve Tumor", "Peripheral Nerve Tumors", "Peripheral Nervous System Benign Neoplasms", "Peripheral Nervous System Malignant Neoplasms", "Peripheral Nervous System Neoplasm", "Peripheral Nervous System Neoplasms", "Peripheral Nervous System Tumor", "Tumor of PNS", "Tumor of Peripheral Nerve", "Tumor of Peripheral Nervous System", "Tumor of the PNS", "Tumor of the Peripheral Nerve", "Tumor of the Peripheral Nervous System", "Tumor, Peripheral Nerve", "Tumors, Peripheral Nerve", "peripheral nervous system cancer"; rdfs:label "tumour of cranial and spinal nerves" . a owl:Class; rdfs:subClassOf ; "A disease involving the skeletal system.", "Any disease which affects part of the skeletal system."; "James Malone"; , ; "ICD10:M43", "MONDO:0005172", "SCTID:88230002", "UMLS:C0263661"; "disease of skeletal system", "disease or disorder of skeletal system", "disorder of skeletal system", "skeletal system disease", "skeletal system disease or disorder"; "disease of bone and/or joint", "disorder of skeletal system", "osteoarthropathy"; "EFO:0002461"; rdfs:label "skeletal system disease" . _:6654d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the skeletal system."; "MONDO:DesignPattern" . _:6656d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:88230002"; "MONDO:equivalentTo" . _:6657d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0263661"; "MONDO:equivalentTo" . _:6659d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of skeletal system"; "MONDO:patterns/location_top" . _:665bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of skeletal system"; "MONDO:patterns/location_top" . _:665cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal system disease"; "MONDO:patterns/location" . _:665ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal system disease"; rdfs:comment "preferred label from MONDO" . _:665fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:6661d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of skeletal system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.", "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.", "A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)"; "Ele Holloway", "James Malone", "Tomasz Adamusiak"; , , , , ; , , , , ; "true"; "COHD:381270", "DOID:14330", "ICD10:G20", "ICD9:332", "ICD9:332.0", "KEGG:05012", "MESH:D010300", "MONDO:0005180", "MSH:D010300", "NCIT:C26845", "NCIt:C26845", "NIFSTD:birnlex_2098", "OMIM:168600", "OMIM:616361", "OMIM:616710", "OMIMPS:168600", "SCTID:49049000", "SNOMEDCT:49049000", "UMLS:C0030567"; "IDIOPATHIC PARKINSON DIS", "IDIOPATHIC PARKINSONS DIS", "Idiopathic PD", "Idiopathic Parkinson Disease", "Idiopathic Parkinson's Disease", "LEWY BODY PARKINSON DIS", "Lewy Body Parkinson Disease", "Lewy Body Parkinson's Disease", "PARKINSON DIS", "PARKINSON DIS IDIOPATHIC", "PARKINSONS DIS", "PARKINSONS DIS IDIOPATHIC", "PARKINSONS DIS LEWY BODY", "Paralysis agitans", "Parkinson Disease, Idiopathic", "Parkinson disease", "Parkinson syndrome", "Parkinson's", "Parkinson's Disease, Idiopathic", "Parkinson's Disease, Lewy Body", "Parkinson's disease", "Parkinson's disease (disorder)", "Parkinson's disease NOS", "Parkinson's disease NOS (disorder)", "Parkinson's syndrome", "Parkinsonian disorder", "Parkinsonism, Primary", "Parkinsons", "Parkinsons disease", "Primary Parkinsonism", "paralysis agitans"; "EFO:0002508"; rdfs:label "Parkinson's disease" . _:6668d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression."; "NCIT:P378" . _:666ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:381270"; "MONDO:equivalentTo" . _:666cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14330"; "EFO:0002508", "MONDO:equivalentTo" . _:666ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G20"; "DOID:14330" . _:6670d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:332"; "DOID:14330", "EFO:0002508" . _:6672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:332.0"; "DOID:14330", "MONDO:equivalentTo", "i2s" . _:6674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05012"; "DOID:14330", "MONDO:equivalentTo" . _:6676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010300"; "DOID:14330", "EFO:0002508", "MONDO:equivalentTo", "MONDO:ontobio" . _:667cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26845"; "DOID:14330", "EFO:0002508", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:667fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIFSTD:birnlex_2098"; "EFO:0002508" . _:6681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:168600"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616361"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:168600"; "MONDO:cjm", "MONDO:equivalentTo" . _:6687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:49049000"; "DOID:14330", "EFO:0002508", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:6688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030567"; "DOID:14330", "MONDO:equivalentTo", "NCIT:C26845" . _:668ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parkinson disease"; rdfs:comment "preferred label from MONDO" . _:668bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parkinson's disease"; "DOID:14330" . _:668cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "paralysis agitans"; "CSP2005:2057-3689", "DOID:14330" . a owl:Class; rdfs:subClassOf , ; "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)", "Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)."; "Ele Holloway", "James Malone", "Sirarat Sarntivijai"; , , ; , , , ; "http://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia"; "COHD:379027", "DOID:12558", "GARD:0004503", "HP:0000590", "ICD10:H49.4", "ICD9:378.72", "MESH:D017246", "MONDO:0005181", "Orphanet:520820", "SCTID:46252003", "SNOMEDCT:46252003"; "PEO", "PEO syndrome", "Progressive external ophthalmoplegia (disorder)", "chronic progressive external ophthalmoplegia", "chronic progressive external ophthalmoplegia [Ambiguous]", "chronic progressive external ophthalmoplegia [ambiguous]", "progressive external ophthalmoplegia"; "chronic progressive external ophthalmoplegia"; "EFO:0002509"; ; rdfs:label "progressive external ophthalmoplegia" . _:668fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)"; "MESH:D017246" . _:6691d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:379027"; "MONDO:equivalentTo" . _:6693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12558"; "EFO:0002509", "MONDO:equivalentTo" . _:6695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004503"; "MONDO:equivalentTo" . _:6697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000590"; "EFO:0002509", "MONDO:otherHierarchy" . _:6698d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H49.4"; "DOID:12558", "MONDO:equivalentTo" . _:669ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:378.72"; "DOID:12558", "EFO:0002509" . _:669cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017246"; "DOID:12558", "MONDO:equivalentTo", "MONDO:ontobio" . _:66a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:520820"; "MONDO:equivalentTo" . _:66a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:46252003"; "DOID:12558", "EFO:0002509", "MONDO:equivalentTo" . _:66a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic progressive external ophthalmoplegia [ambiguous]"; "DOID:12558" . _:66a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive external ophthalmoplegia"; "DOID:12558", "ICD9CM_2006:378.72" . _:66a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive external ophthalmoplegia"; rdfs:comment "preferred label from MONDO" . _:66aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic progressive external ophthalmoplegia"; "DOID:12558" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the exocrine pancreas", "A carcinoma that is located_in cells found in the tissues of the pancreas.", "A carcinoma that is manifested in cells found in the tissues of the pancreas.", "Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)."; "Ele Holloway", "Tomasz Adamusiak"; , , , ; , , , ; "true"; "cancer of pancreas", "cancer of the pancreas", "exocrine cancer", "pancreas cancer", "pancreatic cancer"; "DOID:4905", "ICD10:C25", "MONDO:0005192", "MSH:C562463", "NCIT:C3850", "NCIt:C3850", "OMIM:260350", "SCTID:372142002", "SNOMEDCT:372142002", "UMLS:C0235974"; "Cancer of Pancreas", "Cancer of the Pancreas", "Cancer, Pancreas", "Cancer, Pancreatic", "Cancers, Pancreas", "Cancers, Pancreatic", "Exocrine pancreas carcinoma", "NEOPL PANCREATIC", "Neoplasm, Pancreas", "Neoplasm, Pancreatic", "Neoplasms, Pancreas", "Neoplasms, Pancreatic", "PANCREAS NEOPL", "PANCREATIC NEOPL", "Pancreas Cancer", "Pancreas Cancers", "Pancreas Neoplasm", "Pancreas Neoplasms", "Pancreatic Cancer", "Pancreatic Cancers", "Pancreatic Neoplasm", "Pancreatic Neoplasms", "cancer of pancreas", "cancer of the pancreas", "carcinoma of exocrine pancreas", "carcinoma of pancreas", "carcinoma of pancreas (disorder)", "carcinoma of the pancreas", "exocrine cancer", "exocrine pancreas carcinoma", "exocrine pancreatic carcinoma", "pancreas cancer", "pancreas carcinoma", "pancreatic adenocarcinoma", "pancreatic cancer", "pancreatic cancer (not islets)", "pancreatic carcinoma"; "pancreatic cancer (excluding islets), NOS", "pancreatic carcinoma, familial"; "EFO:0002618"; rdfs:label "pancreatic carcinoma" . _:66b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carcinoma that arises from epithelial cells of the exocrine pancreas"; "MONDO:DesignPattern" . _:66cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of pancreas"; "NCIT:C3850" . _:66d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the pancreas"; "NCIT:C3850" . _:66d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exocrine cancer"; "NCIT:C3850" . _:66d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas cancer"; "NCIT:C3850" . _:66d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic cancer"; "NCIT:C3850" . _:66d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4905"; "EFO:0002618", "MONDO:equivalentTo" . _:66d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3850"; "DOID:4905", "EFO:0002618", "MONDO:equivalentTo" . _:66dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:372142002"; "DOID:4905", "EFO:0002618", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.09" . _:66dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0235974"; "DOID:4905", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3850" . _:66dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of pancreas"; "NCIT:C3850" . _:66e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the pancreas"; "NCIT:C3850" . _:66e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of exocrine pancreas"; "MONDO:patterns/carcinoma" . _:66e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of pancreas"; "DOID:4905", "NCIT:C3850" . _:66e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the pancreas"; "NCIT:C3850" . _:66e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exocrine cancer"; "DOID:4905", "NCIT:C3850" . _:66ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exocrine pancreas carcinoma"; "DOID:4905", "MONDO:patterns/location", "NCIT:C3850" . _:66edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exocrine pancreatic carcinoma"; rdfs:comment "preferred label from MONDO" . _:66f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas cancer"; "NCIT:C3850" . _:66f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas carcinoma"; "NCIT:C3850" . _:66f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic cancer"; "NCIT:C3850" . _:66f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic cancer (not islets)"; "NCIT:C3850" . _:66f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic carcinoma"; "NCIT:C3850" . _:66f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic cancer (excluding islets), NOS"; "NCIT:C3850"; . _:66fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic carcinoma, familial"; "DOID:4905", "MESH:C535837" . a owl:Class; rdfs:subClassOf ; "presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends"; "Ele Holloway", "Tomasz Adamusiak"; , ; "MONDO:0005196", "MP:0005578", "SCTID:236817003", "SNOMEDCT:236817003", "UMLS:C0403824"; "teratospermia", "teratozoospermia"; "EFO:0002625"; rdfs:comment "Consider obsoleting as this is a finding"; rdfs:label "teratozoospermia" . _:66ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends"; "EFO:0002625" . _:6700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MP:0005578"; "EFO:0002625" . _:6701d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:236817003"; "EFO:0002625", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:6702d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0403824"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:6703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "teratozoospermia"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium."; "Tomasz Adamusiak"; , ; , , , , , , ; "DOID:397", "ICD10:I42.5", "ICD9:425.4", "MESH:D002313", "MONDO:0005201", "MedDRA:10038748", "NCIT:C62798", "NCIt:C62798", "Orphanet:217632", "SCTID:415295002", "SNOMEDCT:415295002", "UMLS:C0007196"; "Cardiomyopathy, constrictive", "RCM", "Restrictive cardiomyopathy (disorder)", "cardiomyopathy, constrictive", "primary restrictive cardiomyopathy", "primary restrictive cardiomyopathy (disorder)", "restrictive cardiomyopathy"; "familial restrictive cardiomyopathy"; "EFO:0002630"; ; rdfs:label "restrictive cardiomyopathy" . _:6707d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium."; "NCIT:C62798" . _:6709d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:397"; "EFO:0002630", "MONDO:equivalentTo" . _:670bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.5"; "DOID:397" . _:670cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.4"; "MONDO:relatedTo", "i2s" . _:670ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002313"; "DOID:397", "MONDO:equivalentTo", "ORDO:217632/e", "Orphanet:217632" . _:6711d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038748"; "ORDO:217632/e", "Orphanet:217632" . _:6713d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C62798"; "DOID:397", "EFO:0002630", "MONDO:equivalentTo" . _:6715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:217632"; "MONDO:equivalentTo" . _:6718d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:415295002"; "DOID:397", "EFO:0002630", "MONDO:equivalentTo", "MONDO:kboom-pr-0.87/0.62/1.00" . _:671ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007196"; "DOID:397", "MONDO:equivalentTo", "NCIT:C62798", "ORDO:217632/e", "Orphanet:217632" . _:671cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, constrictive"; "DOID:397", "MTHICD9_2006:425.4" . _:671ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary restrictive cardiomyopathy"; "DOID:397" . _:6721d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "restrictive cardiomyopathy"; "DOID:397", "NCIT:C62798" . _:6722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "restrictive cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:6723d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial restrictive cardiomyopathy"; "DOID:397" . _:6725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217632" . a owl:Class; rdfs:subClassOf , ; "A carcinoma arising from the epithelium of the renal parenchyma (renal cell carcinoma) or the renal pelvis (renal pelvis carcinoma). The vast majority of renal cell carcinomas are adenocarcinomas. The vast majority of renal pelvis carcinomas are transitional cell carcinomas. Renal carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. -- 2004", "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.", "A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma."; "Tomasz Adamusiak"; ; , , ; "DOID:4451", "MONDO:0005206", "NCIT:C9384", "NCIt:C9384", "OMIM:144700", "SNOMEDCT:188251003", "UMLS:C1378703"; "Carcinoma, Hypernephroid", "Carcinoma, Nephroid", "Carcinomas, Hypernephroid", "Carcinomas, Nephroid", "Grawitz Tumor", "Hypernephroid Carcinoma", "Hypernephroid Carcinomas", "Hypernephroma", "Hypernephromas", "Kidney Carcinoma", "Nephroid Carcinoma", "Nephroid Carcinomas", "Renal Collecting Duct Carcinoma", "Tumor, Grawitz", "carcinoma of kidney", "kidney (including renal cell) cancer", "kidney (renal) cancer", "kidney cancer", "kidney carcinoma", "renal cancer", "renal carcinoma"; "kidney cancer, NOS"; "EFO:0002890"; rdfs:label "renal carcinoma" . _:672bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms."; "NCIT:C9384" . _:672ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4451"; "EFO:0002890", "MONDO:equivalentTo" . _:6730d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9384"; "DOID:4451", "EFO:0002890", "MONDO:equivalentTo" . _:6732d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1378703"; "DOID:4451", "MONDO:equivalentTo", "NCIT:C9384" . _:6734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of kidney"; "DOID:4451", "MONDO:patterns/carcinoma" . _:6737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney (including renal cell) cancer"; "NCIT:C9384" . _:6738d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney (renal) cancer"; "NCIT:C9384" . _:673ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney cancer"; "NCIT:C9384" . _:673bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney carcinoma"; "DOID:4451", "MONDO:patterns/location", "NCIT:C9384" . _:673cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal cancer"; "NCIT:C9384" . _:673dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal carcinoma"; "NCIT:C9384" . _:673ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal carcinoma"; rdfs:comment "preferred label from MONDO" . _:673fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney cancer, NOS"; "NCIT:C9384"; . a owl:Class; rdfs:subClassOf , ; "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.", """A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland. Cancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope."""; "James Malone", "Sirarat Sarntivijai"; ; , , , , , ; "true"; "DOID:3963", "EFO:1000586", "HP:0002890", "ICD10:C73", "MedDRA:10007476", "NCIT:C4815", "NCIt:C4815", "Orphanet:100088", "SCTID:448216007", "UMLS:C0549473"; "Thyroid Gland Carcinoma", "cancer of Thyroid", "cancer of the Thyroid", "carcinoma of Thyroid", "carcinoma of Thyroid gland", "carcinoma of the Thyroid", "carcinoma of the Thyroid gland", "carcinoma of thyroid gland", "head and neck cancer, Thyroid", "thyroid cancer", "thyroid carcinoma", "thyroid gland cancer", "thyroid gland carcinoma"; "thyroid cancer, NOS"; "EFO:0002892"; ; rdfs:label "thyroid carcinoma" . _:6746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic."; "NCIT:C4815" . _:6748d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3963"; "MONDO:equivalentTo" . _:674ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1000586"; "MONDO:equivalentTo" . _:674cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002890"; "MONDO:otherHierarchy", "ontobio" . _:674fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10007476"; "ORDO:100088/e", "Orphanet:100088" . _:6750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4815"; "DOID:3963", "EFO:1000586", "MONDO:equivalentTo" . _:6753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:100088"; "MONDO:equivalentTo" . _:6754d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:448216007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.62" . _:6756d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0549473"; "DOID:3963", "MONDO:equivalentTo", "NCIT:C4815", "ORDO:100088/e", "Orphanet:100088" . _:6758d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of Thyroid"; "NCIT:C4815" . _:6759d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the Thyroid"; "NCIT:C4815" . _:675ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of Thyroid"; "NCIT:C4815" . _:675bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of Thyroid gland"; "NCIT:C4815" . _:675dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the Thyroid"; "NCIT:C4815" . _:675fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the Thyroid gland"; "NCIT:C4815" . _:6760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of thyroid gland"; "MONDO:patterns/carcinoma" . _:6762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck cancer, Thyroid"; "DOID:3963", "NCIT:C4815" . _:6764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid cancer"; "NCIT:C4815" . _:6766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid carcinoma"; "MONDO:ambiguous", "NCIT:C4815" . _:6767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland cancer"; "NCIT:C4815" . _:6769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland carcinoma"; "MONDO:0006461", "MONDO:patterns/location", "NCIT:C4815" . _:676ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland carcinoma"; rdfs:comment "preferred label from MONDO" . _:676bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid cancer, NOS"; "NCIT:C4815"; . _:676cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100088" . a owl:Class; rdfs:subClassOf , ; "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome."; "Tomasz Adamusiak"; , ; "ICD9:425.4", "MONDO:0005217", "OMIM:115200", "SCTID:35728003", "SNOMEDCT:35728003", "UMLS:C0264789"; "Familial cardiomyopathy (disorder)", "Primary familial cardiomyopathy", "familial cardiomyopathy", "hereditary cardiomyopathy"; "EFO:0002945"; rdfs:label "familial cardiomyopathy" . _:6771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:6772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.4"; "MONDO:relatedTo", "i2s" . _:6774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:35728003"; "EFO:0002945", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:677bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0264789"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:677dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:677fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary cardiomyopathy"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf ; "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.", "Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle.", "Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle."; "Tomasz Adamusiak"; , ; ; "DOID:0080000", "ICD10:G71", "ICD10:M62", "MESH:D009135", "MONDO:0005218", "MSH:D009135"; "MUSCLE DIS", "MUSCULAR DIS", "Muscle Disorder", "Muscle Disorders", "Muscular Diseases", "Myopathic Condition", "Myopathic Conditions", "disease of muscle organ", "disease or disorder of muscle organ", "disorder of muscle organ", "muscle organ disease", "muscle organ disease or disorder", "muscular disease"; "disorder of muscle organ"; "EFO:0002970"; rdfs:comment "Editor note: consider merging with child"; rdfs:label "muscular disease" . _:6783d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle."; "MESH:D009135" . _:6785d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "EFO:0002970" . _:6786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080000"; "EFO:0002970", "MONDO:equivalentTo" . _:6788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009135"; "EFO:0002970", "MONDO:equivalentTo" . _:678ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of muscle organ"; "MONDO:patterns/location_top" . _:678fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of muscle organ"; "MONDO:patterns/location_top" . _:6791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle organ disease"; "MONDO:patterns/location" . _:6793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle organ disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:6794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular disease"; rdfs:comment "preferred label from MONDO" . _:6795d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of muscle organ"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A disease affecting the kidneys", "A disease involving the kidney."; , , , , , ; , , , , ; "true"; "Helen Parkinson"; "DOID:557", "ICD10:N01", "ICD10:N08", "ICD10:N26", "ICD10:N28.9", "ICD9:583.81", "MESH:D007674", "MONDO:0005240", "MSH:D007674", "NCIT:C3149", "NCIt:C3149", "NCIt:C34843", "SCTID:90708001", "SNOMEDCT:90708001", "UMLS:C0022658"; "Kidney Disorder", "disease of kidney", "disease or disorder of kidney", "disorder of kidney", "kidney disease", "kidney disease or disorder", "kidney diseases", "kidney disorder", "nephropathy", "renal disease", "renal disorder", "renal system disease"; "disorder of kidney"; "EFO:0003086"; rdfs:label "kidney disease" . _:6798d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the kidney."; "MONDO:DesignPattern" . _:679ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:557"; "EFO:0003086", "MONDO:equivalentTo" . _:679cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N08"; "DOID:557" . _:679ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N28.9"; "DOID:557" . _:67a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:583.81"; "MONDO:relatedTo", "i2s" . _:67a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007674"; "DOID:557", "EFO:0003086", "MONDO:equivalentTo", "MONDO:ontobio" . _:67a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3149"; "DOID:557", "EFO:0003086", "MONDO:equivalentTo" . _:67abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:90708001"; "DOID:557", "EFO:0003086", "MONDO:equivalentTo", "MONDO:kboom-pr-0.86/0.69/0.31" . _:67aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022658"; "DOID:557", "MONDO:equivalentTo" . _:67b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of kidney"; "MONDO:patterns/location_top" . _:67b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of kidney"; "MONDO:patterns/location_top" . _:67b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney disease"; "MONDO:patterns/location" . _:67b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney disease"; rdfs:comment "preferred label from MONDO" . _:67b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:67b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney disorder"; "NCIT:C3149" . _:67b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy"; "DOID:557" . _:67b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal disease"; "NCIT:C3149" . _:67b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal disorder"; "NCIT:C3149" . _:67b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of kidney"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.", "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin."; "Tomasz Adamusiak"; , , , ; , , , , , , , , , ; ; "hypercortisolism"; "DOID:12252", "GARD:0006224", "ICD10:E24", "ICD10:E24.0", "ICD10:E24.1", "ICD10:E24.2", "ICD10:E24.3", "ICD10:E24.4", "ICD10:E24.8", "ICD10:E24.9", "ICD9:255.0", "MESH:D003480", "MONDO:0018912", "MSH:D003480", "MedDRA:10011652", "MedDRA:10020562", "MedDRA:10020564", "MedDRA:10020610", "NCIT:C2969", "NCIt:C2969", "OMIM:219090", "Orphanet:553", "UMLS:C0010481"; "Cushing syndrome", "Cushing's syndrome", "Cushing's syndrome NOS", "Cushing's syndrome NOS (disorder)", "Suprarenogenic syndrome", "cortisol Excess", "hyperadrenocorticism", "hypercorticism", "pituitary basophilism", "suprarenogenic syndrome"; "adrenal hyperfunction resulting from pituitary ACTH excess", "ectopic adrenocorticotropic hormone syndrome", "nodular primary adrenocortical dysplasia"; "EFO:0003099"; ; rdfs:comment "Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form"; rdfs:label "Cushing syndrome" . _:67c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin."; "Orphanet:553" . _:67c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:12252", "MESH:D003480" . _:67d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercortisolism"; "Orphanet:553" . _:67d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006224"; "MONDO:equivalentTo", "Orphanet-shared" . _:67d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E24"; "DOID:12252", "MONDO:equivalentTo" . _:67d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E24.0"; "MONDO:superClassOf", "ORDO:553/btnt", "Orphanet:553" . _:67f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E24.1"; "ORDO:553/btnt", "Orphanet:553" . _:67f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E24.2"; "ORDO:553/btnt", "Orphanet:553" . _:67fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E24.3"; "ORDO:553/btnt", "Orphanet:553" . _:67fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E24.4"; "ORDO:553/btnt", "Orphanet:553" . _:6800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E24.8"; "ORDO:553/btnt", "Orphanet:553" . _:6802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E24.9"; "DOID:12252", "ORDO:553/btnt", "Orphanet:553" . _:6804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.0"; "DOID:12252", "EFO:0003099" . _:6806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003480"; "DOID:12252", "EFO:0003099", "MONDO:equivalentTo", "ORDO:553/e", "Orphanet:553" . _:680ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011652"; "ORDO:553/e", "Orphanet:553" . _:680bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020562"; "ORDO:553/e", "Orphanet:553" . _:680cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020564"; "ORDO:553/e", "Orphanet:553" . _:680dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020610"; "ORDO:553/e", "Orphanet:553" . _:680ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2969"; "DOID:12252", "EFO:0003099", "MONDO:equivalentTo" . _:680fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:219090"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6810d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:553"; "MONDO:equivalentTo" . _:6811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010481"; "DOID:12252", "MONDO:equivalentTo", "NCIT:C2969", "ORDO:553/e", "Orphanet:553" . _:6813d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cushing syndrome"; "DOID:12252" . _:6815d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cushing syndrome"; rdfs:comment "preferred label from MONDO" . _:6817d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cushing's syndrome"; "Orphanet:553" . _:681ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cortisol Excess"; "NCIT:C2969" . _:681cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperadrenocorticism"; "Orphanet:553" . _:681dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary basophilism"; "CSP2005:0060-4199", "DOID:12252" . _:681ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "suprarenogenic syndrome"; "DOID:12252" . _:6820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperfunction resulting from pituitary ACTH excess"; "GARD:0006224" . _:6822d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectopic adrenocorticotropic hormone syndrome"; "GARD:0006224" . _:6825d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nodular primary adrenocortical dysplasia"; "GARD:0006224" . _:6829d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:553" . a owl:Class; rdfs:subClassOf , ; "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs."; "Catherine Leroy", "Tomasz Adamusiak"; , , , , , ; , , , , ; "true"; "DOID:0060053", "DOID:870", "EFO:0004149", "ICD10:G62.9", "MONDO:0005244", "MedDRA:10034606", "NCIT:C119734", "NCIT:C4731", "NCIt:C119734", "SCTID:386033004", "UMLS:C0442874"; "neuropathy", "peripheral nerve disorder", "peripheral neuropathy"; "EFO:0003100"; rdfs:comment "Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20"; rdfs:label "peripheral neuropathy" . _:682fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs."; "NCIT:C119734" . _:6830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:870"; "EFO:0004149", "MONDO:equivalentTo" . _:6831d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0004149"; "MONDO:equivalentTo" . _:6832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G62.9"; "DOID:870" . _:6833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034606"; "EFO:0003100" . _:6834d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C119734"; "EFO:0003100", "MONDO:equivalentTo" . _:6835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4731"; "DOID:870", "EFO:0004149", "MONDO:equivalentTo" . _:6836d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:386033004"; "DOID:870", "EFO:0004149", "MONDO:equivalentTo" . _:6837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0442874"; "DOID:870", "MONDO:equivalentTo", "NCIT:C4731" . _:6838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuropathy"; "MONDO:0005337", "NCIT:C4731" . _:683ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nerve disorder"; "NCIT:C119734" . _:683fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral neuropathy"; "DOID:870", "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20" . _:6840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral neuropathy"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction."; "Catherine Leroy", "Tomasz Adamusiak"; ; , , , ; "true"; "COHD:316139", "ICD10:I50", "ICD9:428", "ICD9:428.9", "MESH:D006333", "MONDO:0005252", "MSH:D006333", "NCIT:C50577", "NCIt:C50577", "SCTID:84114007", "SNOMEDCT:84114007", "UMLS:CN236639"; "Heart failure (disorder)", "Heart failure NOS", "Heart failure NOS (disorder)", "Heart failure, unspecified", "Heart: [weak] or [failure NOS]", "Weak heart", "cardiac failure", "cardiac insufficiency", "failure, heart", "heart failure", "insufficiency, Cardiac"; "EFO:0003144"; rdfs:label "heart failure" . _:6843d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction."; "EFO:0003144" . _:6845d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:316139"; "MONDO:equivalentTo" . _:6847d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:428"; "EFO:0003144" . _:6848d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:428.9"; "MONDO:equivalentTo", "i2s" . _:684ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006333"; "EFO:0003144", "MONDO:equivalentTo" . _:684cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C50577"; "EFO:0003144", "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.79/4.07" . _:684dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:84114007"; "EFO:0003144", "MONDO:equivalentTo", "MONDO:kboom-pr-0.98/0.75/3.46" . _:684fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN236639"; "MONDO:equivalentTo" . _:6850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiac failure"; "NCIT:C50577" . _:6853d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiac insufficiency"; "NCIT:C50577" . _:6855d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "failure, heart"; "NCIT:C50577" . _:6857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart failure"; "https://en.wikipedia.org/wiki/Heart_failure" . _:6858d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart failure"; rdfs:comment "preferred label from MONDO" . _:6859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insufficiency, Cardiac"; "NCIT:C50577" . a owl:Class; rdfs:subClassOf , , ; "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.", "A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others."; "Tomasz Adamusiak"; , , , , , , , , , , , ; , , , , ; ; "DOID:6713", "ICD10:I60-I69", "ICD10:I60.I69", "ICD10:I63.9", "ICD10:I66", "ICD10:I67", "ICD10:I67.9", "ICD10:I69", "ICD9:430-438.99", "ICD9:434.91", "ICD9:437.8", "ICD9:437.9", "MESH:D002561", "MONDO:0011057", "MSH:D002561", "NCIT:C2938", "NCIt:C2938", "SCTID:62914000", "SNOMEDCT:62914000", "UMLS:C0007820"; "BRAIN VASCULAR DIS", "Brain Vascular Disorder", "Brain Vascular Disorders", "CEREBROVASCULAR DIS", "Cerebrovascular Disease", "Cerebrovascular Disorders", "Cerebrovascular Insufficiencies", "Cerebrovascular Insufficiency", "Cerebrovascular Occlusion", "Cerebrovascular Occlusions", "INTRACRANIAL VASCULAR DIS", "Insufficiencies, Cerebrovascular", "Insufficiency, Cerebrovascular", "Intracranial Vascular Disease", "Intracranial Vascular Diseases", "Intracranial Vascular Disorder", "Intracranial Vascular Disorders", "Occlusion, Cerebrovascular", "Occlusions, Cerebrovascular", "VASCULAR DIS INTRACRANIAL", "Vascular Disease, Intracranial", "Vascular Diseases, Intracranial", "Vascular Disorder, Brain", "Vascular Disorder, Intracranial", "Vascular Disorders, Brain", "Vascular Disorders, Intracranial", "cerebrovascular disease", "cerebrovascular disorder"; "CVA", "CVA (cerebral vascular accident)", "cerebral infarction", "cerebrovascular accident", "stroke"; "EFO:0003763"; rdfs:label "cerebrovascular disorder" . _:6860d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction."; "NCIT:C2938" . _:6862d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:6713" . _:6864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6713"; "EFO:0003763", "MONDO:equivalentTo" . _:6866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I60-I69"; "DOID:6713" . _:6867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I60.I69"; "MONDO:equivalentTo" . _:6869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I63.9"; "DOID:6713" . _:686ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I67.9"; "DOID:6713" . _:686bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:430-438.99"; "DOID:6713", "EFO:0003763" . _:686cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:434.91"; "MONDO:relatedTo", "i2s" . _:686dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:437.8"; "MONDO:relatedTo", "i2s" . _:686ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:437.9"; "DOID:6713", "MONDO:equivalentTo", "i2s" . _:686fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002561"; "DOID:6713", "EFO:0003763", "MONDO:equivalentTo" . _:6870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2938"; "DOID:6713", "EFO:0003763", "MONDO:equivalentTo" . _:6872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:62914000"; "DOID:6713", "EFO:0003763", "MONDO:equivalentTo" . _:6874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007820"; "DOID:6713", "MONDO:equivalentTo", "NCIT:C2938" . _:6876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebrovascular disease"; "NCIT:C2938" . _:6878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebrovascular disorder"; "DOID:6713", "NCIT:C2938" . _:6879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebrovascular disorder"; rdfs:comment "preferred label from MONDO" . _:687ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CVA"; "DOID:6713" . _:687bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CVA (cerebral vascular accident)"; "CSP2005:0617-5539", "DOID:6713" . _:687cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral infarction"; "OMIM:601367" . _:687dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebrovascular accident"; "DOID:6713" . _:6882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "stroke"; "DOID:6713" . a owl:Class; rdfs:subClassOf , ; "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]", "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type."; "Tomasz Adamusiak"; , , ; , , , , ; "true"; "DOID:0050589", "ICD9:558.9", "KEGG:05321", "MESH:D015212", "MONDO:0005265", "MSH:D015212", "NCIT:C3138", "NCIt:C3138", "OMIM:608448", "OMIM:611081", "OMIM:612244", "OMIM:612245", "OMIM:612261", "OMIM:612278", "OMIMPS:266600", "SCTID:24526004", "SNOMEDCT:24526004", "UMLS:C0021390"; "Bowel Diseases, Inflammatory", "IBD", "INFLAMM BOWEL DIS", "Inflammatory Bowel Diseases", "autoimmune bowel disorder", "inflammatory bowel disease"; "EFO:0003767"; rdfs:label "inflammatory bowel disease" . _:688cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type."; "NCIT:C3138" . _:688ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050589"; "EFO:0003767", "MONDO:equivalentTo" . _:6890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:558.9"; "MONDO:relatedTo", "i2s" . _:6892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05321"; "DOID:0050589", "MONDO:equivalentTo" . _:6895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015212"; "DOID:0050589", "EFO:0003767", "MONDO:equivalentTo", "MONDO:ontobio" . _:6898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3138"; "DOID:0050589", "EFO:0003767", "MONDO:equivalentTo" . _:689ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:266600"; "DOID:0050589", "MONDO:equivalentTo" . _:689bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:24526004"; "DOID:0050589", "EFO:0003767", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:689ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021390"; "DOID:0050589", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3138" . _:68a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBD"; "NCIT:C3138" . _:68a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune bowel disorder"; "NCIT:C3138" . _:68a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory bowel disease"; "NCIT:C3138" . _:68aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory bowel disease"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.", "Tumors or cancer of the ENDOCRINE GLANDS."; "Tomasz Adamusiak"; ; , ; "DOID:170", "ICD10:D35", "ICD10:D44", "ICD9:239.7", "MONDO:0002082", "MSH:D004701", "NCIT:C3010", "NCIt:C3010", "SCTID:387922007"; "Cancer of Endocrine Gland", "Cancer of the Endocrine Gland", "Cancer, Endocrine", "Cancer, Endocrine Gland", "Cancers, Endocrine", "Carcinoma of Endocrine Gland", "Carcinoma, Endocrine Gland", "ENDOCRINE GLAND NEOPL", "Endocrine Cancer", "Endocrine Cancers", "Endocrine Gland Cancer", "Endocrine Gland Carcinoma", "Endocrine Gland Neoplasm", "Endocrine Gland Neoplasms", "NEOPL ENDOCRINE GLAND", "Neoplasm, Endocrine Gland", "Neoplasms, Endocrine Gland", "endocrine gland neoplasm", "endocrine gland neoplasm (disease)", "endocrine gland tumor", "endocrine neoplasm", "endocrine system neoplasm", "endocrine system tumor", "endocrine tumor", "neoplasm of endocrine gland", "tumor of endocrine gland"; "malignant endocrine tumor"; "EFO:0003769"; rdfs:label "endocrine neoplasm" . _:68add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma."; "NCIT:C3010" . _:68b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.7"; "MONDO:relatedTo", "i2s" . _:68b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3010"; "MONDO:equivalentTo" . _:68b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:387922007"; "MONDO:equivalentTo" . _:68b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine gland neoplasm"; rdfs:comment "preferred label from MONDO" . _:68b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine gland neoplasm (disease)"; "MONDO:patterns/location" . _:68b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine gland tumor"; "MONDO:patterns/neoplasm" . _:68b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine neoplasm"; "CSP2005:2009-5861", "DOID:170", "NCIT:C3010" . _:68b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine system neoplasm"; "NCIT:C3010" . _:68bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine system tumor"; "NCIT:C3010" . _:68bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine tumor"; "DOID:170", "NCIT:C3010" . _:68bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of endocrine gland"; "MONDO:patterns/neoplasm" . _:68c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of endocrine gland"; "MONDO:patterns/neoplasm" . _:68c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant endocrine tumor"; "DOID:170" . a owl:Class; rdfs:subClassOf , ; "A disease involving the heart.", "Pathological conditions involving the HEART including its structural and functional abnormalities."; "Tomasz Adamusiak"; , , , , ; , , , , , , ; "COHD:321588", "DOID:114", "ICD10:I24", "ICD10:I51", "ICD10:I51.9", "ICD9:429.89", "ICD9:429.9", "ICD9:V47.2", "MESH:D006331", "MONDO:0005267", "MSH:D006331", "NCIT:C3079", "SCTID:56265001", "SNOMEDCT:56265001", "UMLS:C0018799", "UMLS:CN236661", "UMLS:CN239852"; "CARDIAC DIS", "Cardiac Disease", "Cardiac Diseases", "Disease, Cardiac", "Disease, Heart", "Diseases, Cardiac", "Diseases, Heart", "HEART DIS", "Heart Diseases", "cardiac disease", "disease of heart", "disease or disorder of heart", "disorder of heart", "heart disease", "heart disease or disorder", "heart disorder", "heart trouble"; "disorder of heart"; "EFO:0003777"; rdfs:label "heart disease" . _:68cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the heart."; "MONDO:DesignPattern" . _:68ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:321588"; "MONDO:equivalentTo" . _:68cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:114"; "EFO:0003777", "MONDO:equivalentTo" . _:68d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I51.9"; "DOID:114" . _:68d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:429.89"; "MONDO:relatedTo", "i2s" . _:68d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:429.9"; "DOID:114", "MONDO:equivalentTo", "i2s" . _:68d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:V47.2"; "MONDO:relatedTo", "i2s" . _:68d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006331"; "DOID:114", "EFO:0003777", "MONDO:equivalentTo", "MONDO:ontobio" . _:68d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3079"; "DOID:114", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:68dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:56265001"; "DOID:114", "EFO:0003777", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:68dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018799"; "DOID:114", "MONDO:equivalentTo", "NCIT:C3079" . _:68ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN236661"; "MEDGEN:kboom-pr91-c94", "MONDO:equivalentTo" . _:68dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239852"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:68e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiac disease"; "DOID:114" . _:68e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of heart"; "MONDO:patterns/location_top" . _:68e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of heart"; "MONDO:patterns/location_top" . _:68e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart disease"; "MONDO:patterns/location", "NCIT:C3079" . _:68e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart disease"; rdfs:comment "preferred label from MONDO" . _:68ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:68fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart disorder"; "NCIT:C3079" . _:68ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart trouble"; "NCIT:C3079" . _:6900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of heart"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , , ; "A disease involving the motor neuron.", "Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)"; "Tomasz Adamusiak"; , , , , ; , , , , , ; "COHD:374631", "DOID:231", "ICD10:G12.2", "ICD10:G12.20", "ICD9:335.2", "ICD9:335.8", "ICD9:335.9", "MESH:D016472", "MONDO:0020128", "MSH:D016472", "MedDRA:10028003", "Orphanet:98503", "SCTID:37340000", "SNOMEDCT:37340000"; "ANTERIOR HORN CELL DIS", "Anterior Horn Cell Disease", "FAMILIAL MOTOR NEURON DIS", "Familial Motor Neuron Disease", "LOWER MOTOR NEURON DIS", "Lateral Scleroses", "Lateral Sclerosis", "Lower Motor Neuron Disease", "MOTOR NEURON DIS", "MOTOR NEURON DIS FAMILIAL", "MOTOR NEURON DIS LOWER", "MOTOR NEURON DIS SECOND", "MOTOR NEURON DIS UPPER", "MOTOR SYSTEM DIS", "Motor Neuron Disease, Familial", "Motor Neuron Disease, Lower", "Motor Neuron Disease, Secondary", "Motor Neuron Disease, Upper", "Motor Neuron Diseases", "Motor System Disease", "Motor System Diseases", "Neuron Disease, Motor", "Neuron Diseases, Motor", "SECOND MOTOR NEURON DIS", "Scleroses, Lateral", "Scleroses, Primary Lateral", "Sclerosis, Lateral", "Secondary Motor Neuron Disease", "UPPER MOTOR NEURON DIS", "Upper Motor Neuron Disease", "anterior horn cell disease", "disease of motor neuron", "disease or disorder of motor neuron", "disorder of motor neuron", "motor neuron disease", "motor neuron disease or disorder"; "disorder of motor neuron"; "EFO:0003782"; ; rdfs:label "motor neuron disease" . _:690bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the motor neuron."; "MONDO:patterns/location_top" . _:690dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:374631"; "MONDO:equivalentTo" . _:690fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:231"; "EFO:0003782", "MONDO:equivalentTo" . _:6911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G12.2"; "DOID:231", "MONDO:equivalentTo", "ORDO:98503/e", "Orphanet:98503" . _:6915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G12.20"; "DOID:231" . _:6916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.2"; "DOID:231", "EFO:0003782" . _:6918d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.8"; "MONDO:relatedTo", "i2s" . _:691ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.9"; "MONDO:equivalentTo", "i2s" . _:691dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016472"; "DOID:231", "EFO:0003782", "MONDO:equivalentTo", "ORDO:98503/e", "Orphanet:98503" . _:6920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028003"; "ORDO:98503/e", "Orphanet:98503" . _:6922d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98503"; "MONDO:equivalentTo" . _:6926d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:37340000"; "DOID:231", "EFO:0003782", "MONDO:equivalentTo" . _:6929d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anterior horn cell disease"; "Orphanet:98503" . _:692bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of motor neuron"; "MONDO:patterns/location_top" . _:6932d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of motor neuron"; "MONDO:patterns/location_top" . _:6934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "motor neuron disease"; "MONDO:0005270", "MONDO:patterns/location" . _:6935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "motor neuron disease"; rdfs:comment "preferred label from MONDO" . _:6936d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "motor neuron disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:6937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of motor neuron"; "MONDO:patterns/location_top" . _:6938d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98503" . a owl:Class; rdfs:subClassOf , ; "A disease involving the lung.", "Pathological processes involving any part of the LUNG."; "Tomasz Adamusiak"; , , ; , , , ; "DOID:850", "ICD10:J98.4", "ICD9:518.89", "MESH:D008171", "MONDO:0005275", "MSH:D008171", "NCIT:C3198", "SCTID:19829001"; "DIS PULM", "Disease, Lung", "Disease, Pulmonary", "Diseases, Lung", "Diseases, Pulmonary", "LUNG DIS", "Lung Diseases", "PULM DIS", "Pulmonary Disease", "Pulmonary Diseases", "disease of lung", "disease or disorder of lung", "disorder of lung", "lung disease", "lung disease or disorder", "lung disorders", "pulmonary diseases", "pulmonary disorder", "pulmonary disorders"; "disorder of lung", "lung disorder", "pulmonary disease"; "EFO:0003818"; rdfs:label "lung disease" . _:693cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the lung."; "MONDO:DesignPattern" . _:693fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:850"; "EFO:0003818", "MONDO:equivalentTo" . _:6941d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J98.4"; "DOID:850" . _:6943d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:518.89"; "MONDO:relatedTo", "i2s" . _:6947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008171"; "DOID:850", "EFO:0003818", "MONDO:equivalentTo", "MONDO:ontobio" . _:694ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3198"; "DOID:850", "MONDO:equivalentTo" . _:694cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:19829001"; "DOID:850", "MONDO:equivalentTo" . _:694ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of lung"; "MONDO:patterns/location_top" . _:694fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lung"; "MONDO:patterns/location_top" . _:6953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lung disease"; "MONDO:patterns/location" . _:6954d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lung disease"; rdfs:comment "preferred label from MONDO" . _:6956d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lung disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:695dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lung disorders"; "NCIT:C3198" . _:695fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary diseases"; "NCIT:C3198" . _:6961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary disorder"; "NCIT:C3198" . _:6962d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary disorders"; "NCIT:C3198" . _:6964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lung"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.", "Tumors or cancer located in bone tissue or specific BONES."; "Tomasz Adamusiak"; , , ; , ; "DOID:184", "GARD:0013223", "ICD10:D16", "MSH:D001859", "NCIT:C9343", "NCIt:C9343", "ONCOTREE:BONE", "Orphanet:68411"; "BONE NEOPL", "Bone Neoplasms", "NEOPL BONE", "Neoplasm, Bone", "Neoplasms, Bone", "bone neoplasm", "bone neoplasms", "bone tissue neoplasm", "bone tissue tumor", "bone tumor", "bone tumors", "neoplasm of bone", "neoplasm of bone tissue", "neoplasm of the bone", "osseous neoplasm", "osseous tumor", "tumor of bone", "tumor of bone tissue", "tumor of the bone"; "primary bone cancer", "primary malignant neoplasm of bone", "rare bone tumor"; "EFO:0003820"; ; rdfs:label "bone neoplasm" . _:6966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage."; "NCIT:C9343" . _:6967d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013223"; "MONDO:equivalentTo", "Orphanet-shared" . _:6968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9343"; "MONDO:equivalentTo" . _:6969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:BONE"; "MONDO:equivalentTo" . _:696bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68411"; "MONDO:equivalentTo" . _:696dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone neoplasm"; "NCIT:C9343" . _:696fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone neoplasm"; rdfs:comment "preferred label from MONDO" . _:6970d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone neoplasms"; "NCIT:C9343" . _:6971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone tissue tumor"; "MONDO:patterns/neoplasm" . _:6974d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone tumor"; "NCIT:C9343" . _:6976d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone tumors"; "NCIT:C9343" . _:6978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of bone"; "NCIT:C9343" . _:697ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of bone tissue"; "MONDO:patterns/neoplasm" . _:697bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the bone"; "NCIT:C9343" . _:697cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osseous neoplasm"; "NCIT:C9343" . _:697ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osseous tumor"; "NCIT:C9343" . _:697fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of bone"; "NCIT:C9343" . _:6981d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of bone tissue"; "MONDO:patterns/neoplasm" . _:6984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the bone"; "NCIT:C9343" . _:6986d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary bone cancer"; "GARD:0013223" . _:6988d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary malignant neoplasm of bone"; "GARD:0013223" . _:698ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bone tumor"; "Orphanet:68411" . _:698cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68411" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the eye.", "Tumors or cancer of the EYE."; "Tomasz Adamusiak"; , , ; ; "ICD10:C69", "MSH:D005134", "NCIT:C3030", "NCIt:C3030", "ONCOTREE:EYE"; "Cancer of Eye", "Cancer of the Eye", "Cancer, Eye", "Cancers, Eye", "EYE NEOPL", "Eye Cancer", "Eye Cancers", "Eye Neoplasms", "NEOPL EYE", "Neoplasm, Eye", "Neoplasms, Eye", "eye neoplasm", "eye neoplasm (disease)", "eye tumor", "eyeball of camera-type eye neoplasm", "eyeball of camera-type eye tumor", "neoplasm of eye", "neoplasm of eyeball of camera-type eye", "neoplasm of the eye", "ocular neoplasm", "ocular tumor", "tumor of eye", "tumor of eyeball of camera-type eye", "tumor of the eye"; "EFO:0003824"; rdfs:label "eye neoplasm" . _:6991d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the eye."; "MONDO:patterns/location" . _:6993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3030"; "MONDO:equivalentTo" . _:6995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:EYE"; "MONDO:equivalentTo" . _:6997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye neoplasm"; rdfs:comment "preferred label from MONDO" . _:6999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye neoplasm (disease)"; "MONDO:patterns/location" . _:699bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye tumor"; "MONDO:patterns/neoplasm", "NCIT:C3030" . _:699dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyeball of camera-type eye tumor"; "MONDO:patterns/neoplasm" . _:699fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of eye"; "MONDO:patterns/neoplasm" . _:69a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of eyeball of camera-type eye"; "MONDO:patterns/neoplasm" . _:69a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the eye"; "NCIT:C3030" . _:69a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular neoplasm"; "NCIT:C3030" . _:69a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular tumor"; "NCIT:C3030" . _:69a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of eye"; "MONDO:patterns/neoplasm", "NCIT:C3030" . _:69add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of eyeball of camera-type eye"; "MONDO:patterns/neoplasm" . _:69afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the eye"; "NCIT:C3030" . a owl:Class; rdfs:subClassOf , ; "A disease involving the gall bladder.", "Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases."; "Tomasz Adamusiak"; , , , , , ; , , , , ; "DOID:0060262", "ICD10:K82", "ICD10:K82.9", "ICD9:575.8", "ICD9:575.9", "MESH:D005705", "MONDO:0005281", "MSH:D005705", "NCIT:C34631", "OMIM:609919", "OMIMPS:600803", "SCTID:39621005", "UMLS:C0016977"; "Bladder Disease, Gall", "Bladder Diseases, Gall", "Disease, Gall Bladder", "Disease, Gallbladder", "Diseases, Gall Bladder", "Diseases, Gallbladder", "GALL BLADDER DIS", "GALLBLADDER DIS", "Gall Bladder Diseases", "Gall bladder disorder", "Gallbladder Disease", "Gallbladder Diseases", "disease of gall bladder", "disease or disorder of gall bladder", "disorder of gall bladder", "gall bladder disease", "gall bladder disease or disorder", "gallbladder disease", "gallbladder disorder"; "disorder of gall bladder"; "EFO:0003832"; rdfs:label "gallbladder disease" . _:69b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the gall bladder."; "MONDO:DesignPattern" . _:69bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060262"; "EFO:0003832", "MONDO:equivalentTo" . _:69bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K82"; "MONDO:equivalentTo" . _:69bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K82.9"; "DOID:0060262" . _:69bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:575.8"; "MONDO:relatedTo", "i2s" . _:69c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:575.9"; "DOID:0060262", "MONDO:equivalentTo", "i2s" . _:69c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005705"; "DOID:0060262", "EFO:0003832", "MONDO:equivalentTo", "MONDO:ontobio" . _:69c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34631"; "DOID:0060262", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:69c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:600803"; "MONDO:cjm", "MONDO:equivalentTo" . _:69c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:39621005"; "DOID:0060262", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.12" . _:69c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0016977"; "DOID:0060262", "MONDO:equivalentTo", "NCIT:C34631" . _:69cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gall bladder disorder"; "NCIT:C34631" . _:69cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of gall bladder"; "MONDO:patterns/location_top" . _:69ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of gall bladder"; "MONDO:patterns/location_top" . _:69cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gall bladder disease"; "MONDO:patterns/location" . _:69ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gall bladder disease or disorder"; "MONDO:patterns/location" . _:69cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gallbladder disease"; rdfs:comment "preferred label from MONDO" . _:69d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gallbladder disorder"; "NCIT:C34631" . _:69d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of gall bladder"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the brain.", "Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain."; "Tomasz Adamusiak"; ; ; "COHD:373724", "DOID:1319", "ICD10:C71", "MSH:D001932", "NCIT:C2907", "NCIt:C2907"; "Brain Neoplasms", "Brain Tumor", "Brain Tumor, Recurrent", "Brain Tumors", "Brain Tumors, Recurrent", "INTRACRANIAL NEOPL", "Intracranial Neoplasm", "Intracranial Neoplasms", "NEOPL BRAIN", "NEOPL INTRACRANIAL", "Neoplasm, Brain", "Neoplasm, Intracranial", "Neoplasms, Brain", "Neoplasms, Intracranial", "PRIMARY BRAIN NEOPL", "Recurrent Brain Tumor", "Recurrent Brain Tumors", "Tumor, Brain", "Tumors, Brain", "brain neoplasm", "brain neoplasm (disease)", "brain neoplasms", "brain tumor", "neoplasm of brain", "neoplasm of the brain", "tumor of brain", "tumor of the Brain"; "EFO:0003833"; rdfs:label "brain neoplasm" . _:69e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the brain."; "MONDO:patterns/location" . _:69e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:373724"; "MONDO:equivalentTo" . _:69e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2907"; "MONDO:equivalentTo" . _:69ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain neoplasm"; rdfs:comment "preferred label from MONDO" . _:69ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain neoplasm (disease)"; "MONDO:patterns/location" . _:69edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain neoplasms"; "NCIT:C2907" . _:69f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain tumor"; "MONDO:patterns/neoplasm", "NCIT:C2907" . _:69f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of brain"; "MONDO:patterns/neoplasm", "NCIT:C2907" . _:69f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the brain"; "NCIT:C2907" . _:69f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of brain"; "MONDO:patterns/neoplasm", "NCIT:C2907" . _:69f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the Brain"; "NCIT:C2907" . a owl:Class; rdfs:subClassOf ; "Any disease or disorder of the retina."; "Tomasz Adamusiak"; , , , , ; , , , , ; "true"; "COHD:376103", "DC:0000592", "DOID:5679", "HGNC:8002", "ICD10:H35", "ICD10:H35.9", "ICD9:362.89", "ICD9:362.9", "MESH:D012164", "MONDO:0005283", "NCIT:C62601", "NCIt:C62601", "OMIM:162080", "SCTID:29555009", "SNOMEDCT:399625000", "UMLS:C0035309"; "eye disease of retina", "retina eye disease", "retinal disease", "retinopathy"; "EFO:0003839"; rdfs:label "retinopathy" . _:6a04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease or disorder of the retina."; "NCIT:C62601" . _:6a06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:376103"; "MONDO:equivalentTo" . _:6a07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000592"; "MONDO:equivalentTo" . _:6a0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5679"; "EFO:0003839", "MONDO:equivalentTo" . _:6a0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGNC:8002"; "EFO:0003839" . _:6a0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.9"; "DOID:5679" . _:6a11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.89"; "MONDO:relatedTo", "i2s" . _:6a12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.9"; "DOID:5679", "MONDO:equivalentTo", "i2s" . _:6a13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012164"; "DOID:5679", "MONDO:equivalentTo" . _:6a14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C62601"; "DOID:5679", "EFO:0003839", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:6a15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162080"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6a16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:29555009"; "DOID:5679", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/6.52" . _:6a17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035309"; "DOID:5679", "MONDO:equivalentTo" . _:6a18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye disease of retina"; "MONDO:design_pattern" . _:6a2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retina eye disease"; "MONDO:patterns/location" . _:6a2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal disease"; rdfs:comment "preferred label from MONDO" . _:6a30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinopathy"; "https://orcid.org/0000-0001-5208-3432" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm affecting the thyroid gland."; "Catherine Leroy", "Tomasz Adamusiak"; , , ; , , ; "true"; "MONDO:0021217"; "DOID:2891", "ICD9:239.7", "MONDO:0015074", "MSH:D013964", "NCIT:C3414", "NCIt:C3414", "ONCOTREE:THYROID", "Orphanet:100087", "SCTID:127018007"; "Adenoma, Thyroid", "NEOPL THYROID", "Neoplasm, Thyroid", "Neoplasms, Thyroid", "THYROID NEOPL", "Thyroid Gland Neoplasm", "Thyroid Neoplasms", "neoplasm of Thyroid", "neoplasm of Thyroid gland", "neoplasm of the Thyroid", "neoplasm of the Thyroid gland", "neoplasm of thyroid gland", "thyroid gland neoplasm", "thyroid gland neoplasm (disease)", "thyroid gland tumor", "thyroid neoplasm", "thyroid neoplasms", "thyroid tumor", "tumor of Thyroid", "tumor of Thyroid gland", "tumor of the Thyroid", "tumor of the Thyroid gland", "tumor of thyroid gland"; "THYROID"; "EFO:0003841"; ; rdfs:comment "Editor note: TODO"; rdfs:label "thyroid neoplasm" . _:6a38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm affecting the thyroid gland."; "NCIT:P378" . _:6a3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.7"; "MONDO:relatedTo", "i2s" . _:6a3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3414"; "MONDO:equivalentTo", "kboom:pr0.76-conf6.36" . _:6a3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:THYROID"; "MONDO:equivalentTo" . _:6a3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:100087"; "MONDO:equivalentTo" . _:6a3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:127018007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.79/0.46/0.62" . _:6a40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of Thyroid"; "NCIT:C3414" . _:6a41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of Thyroid gland"; "NCIT:C3414" . _:6a42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the Thyroid"; "NCIT:C3414" . _:6a43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the Thyroid gland"; "NCIT:C3414" . _:6a44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of thyroid gland"; "MONDO:patterns/neoplasm" . _:6a45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland neoplasm"; "NCIT:C3414" . _:6a46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland neoplasm (disease)"; "MONDO:patterns/location" . _:6a47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland tumor"; "MONDO:patterns/neoplasm", "NCIT:C3414" . _:6a48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid neoplasm"; "NCIT:C3414" . _:6a49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid neoplasms"; "NCIT:C3414" . _:6a4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid tumor"; "NCIT:C3414" . _:6a53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid tumor"; rdfs:comment "preferred label from MONDO" . _:6a55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of Thyroid"; "NCIT:C3414" . _:6a57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of Thyroid gland"; "NCIT:C3414" . _:6a59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the Thyroid"; "NCIT:C3414" . _:6a5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the Thyroid gland"; "NCIT:C3414" . _:6a5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of thyroid gland"; "MONDO:patterns/neoplasm" . _:6a61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THYROID"; "ONCOTREE:THYROID" . _:6a63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100087" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the adrenal gland.", "Tumors or cancer of the ADRENAL GLANDS."; "Tomasz Adamusiak"; , , ; ; "DOID:3953", "MONDO:0021227", "MSH:D000310", "NCIT:C2859", "NCIt:C2859", "ONCOTREE:ADRENALGLAND"; "ADRENAL GLAND NEOPL", "Adrenal Cancer", "Adrenal Cancers", "Adrenal Gland Cancer", "Adrenal Gland Cancers", "Adrenal Gland Neoplasms", "Adrenal Neoplasm", "Adrenal Neoplasms", "Cancer of the Adrenal Gland", "Cancer, Adrenal", "Cancer, Adrenal Gland", "Cancers, Adrenal", "Cancers, Adrenal Gland", "NEOPL ADRENAL GLAND", "Neoplasm, Adrenal", "Neoplasm, Adrenal Gland", "Neoplasms, Adrenal", "Neoplasms, Adrenal Gland", "adrenal gland neoplasm", "adrenal gland neoplasm (disease)", "adrenal gland tumor", "adrenal neoplasm", "adrenal neoplasms", "adrenal tumor", "neoplasm of adrenal gland", "neoplasm of the adrenal gland", "tumor of adrenal gland", "tumor of the adrenal gland"; "ADRENALGLAND"; "EFO:0003850"; rdfs:label "adrenal gland neoplasm" . _:6a6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the adrenal gland."; "MONDO:patterns/location" . _:6a6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2859"; "MONDO:equivalentTo" . _:6a70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:ADRENALGLAND"; "MONDO:equivalentTo" . _:6a75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland neoplasm"; rdfs:comment "preferred label from MONDO" . _:6a77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland neoplasm (disease)"; "MONDO:patterns/location" . _:6a78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland tumor"; "MONDO:patterns/neoplasm", "NCIT:C2859" . _:6a7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal neoplasm"; "NCIT:C2859" . _:6a7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal neoplasms"; "NCIT:C2859" . _:6a7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal tumor"; "NCIT:C2859" . _:6a7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of adrenal gland"; "MONDO:patterns/neoplasm", "NCIT:C2859" . _:6a80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the adrenal gland"; "NCIT:C2859" . _:6a81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of adrenal gland"; "MONDO:patterns/neoplasm", "NCIT:C2859" . _:6a83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the adrenal gland"; "NCIT:C2859" . _:6a85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADRENALGLAND"; "ONCOTREE:ADRENALGLAND" . a owl:Class; rdfs:subClassOf ; "Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord."; "Tomasz Adamusiak"; "MSH:D008577", "NCIt:C3229", "SNOMEDCT:409659004", "SNOMEDCT:414647009"; "BENIGN MENINGEAL NEOPL", "Benign Meningeal Neoplasm", "Benign Meningeal Neoplasms", "Cancer, Meningeal", "Cancers, Meningeal", "INTRACRANIAL MENINGEAL NEOPL", "Intracranial Meningeal Neoplasm", "Intracranial Meningeal Neoplasms", "LEPTOMENINGEAL NEOPL", "Leptomeningeal Neoplasm", "Leptomeningeal Neoplasms", "MALIGNANT MENINGEAL NEOPL", "MENINGEAL NEOPL", "MENINGEAL NEOPL BENIGN", "MENINGEAL NEOPL INTRACRANIAL", "MENINGEAL NEOPL MALIGNANT", "Malignant Meningeal Neoplasm", "Malignant Meningeal Neoplasms", "Meningeal Cancer", "Meningeal Cancers", "Meningeal Neoplasm, Benign", "Meningeal Neoplasm, Intracranial", "Meningeal Neoplasm, Malignant", "Meningeal Neoplasm, Spinal", "Meningeal Neoplasms", "Meningeal Neoplasms, Benign", "Meningeal Neoplasms, Intracranial", "Meningeal Neoplasms, Malignant", "Meningeal Neoplasms, Spinal", "Meningeal Tumor", "Meningeal Tumors", "NEOPL LEPTOMENINGEAL", "NEOPL MENINGEAL", "Neoplasm, Benign Meningeal", "Neoplasm, Intracranial Meningeal", "Neoplasm, Leptomeningeal", "Neoplasm, Malignant Meningeal", "Neoplasm, Meningeal", "Neoplasm, Spinal Meningeal", "Neoplasms, Benign Meningeal", "Neoplasms, Intracranial Meningeal", "Neoplasms, Leptomeningeal", "Neoplasms, Malignant Meningeal", "Neoplasms, Meningeal", "Neoplasms, Spinal Meningeal", "SPINAL MENINGEAL NEOPL", "Spinal Meningeal Neoplasm", "Spinal Meningeal Neoplasms", "Tumor, Meningeal", "Tumors, Meningeal"; rdfs:label "meningeal neoplasm" . a owl:Class; rdfs:subClassOf , ; "A tumor (abnormal growth of tissue) of the respiratory system."; "Catherine Leroy", "Tomasz Adamusiak"; "HP:0100606", "ICD10:D14", "ICD10:D38", "MSH:D012142", "NCIt:C3355"; "Neoplasm, Respiratory Tract", "Neoplasms, Respiratory Tract", "RESPIRATORY TRACT NEOPL", "Respiratory Tract Neoplasm", "Respiratory Tract Neoplasms", "Tract Neoplasm, Respiratory", "Tract Neoplasms, Respiratory"; rdfs:label "respiratory system neoplasm" . a owl:Class; rdfs:subClassOf , , ; "A benign or malignant neoplasm involving the pancreas.", "Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)."; "Tomasz Adamusiak"; , , ; , , ; "true"; "DOID:1793", "MESH:D010190", "MONDO:0021040", "MSH:D010190", "NCIT:C3305", "NCIt:C3305", "OMIM:260350", "ONCOTREE:PANCREAS", "SCTID:126859007"; "NEOPL PANCREATIC", "Neoplasm, Pancreas", "Neoplasm, Pancreatic", "Neoplasms, Pancreas", "Neoplasms, Pancreatic", "PANCREAS NEOPL", "PANCREATIC NEOPL", "Pancreas Neoplasm", "Pancreas Neoplasms", "Pancreatic Neoplasms", "neoplasm of pancreas", "neoplasm of the pancreas", "pancreas neoplasm", "pancreas neoplasm (disease)", "pancreas tumor", "pancreatic cancer", "pancreatic neoplasm", "pancreatic tumor", "tumor of pancreas", "tumor of the pancreas"; "pancreas"; "EFO:0003860"; rdfs:label "pancreatic neoplasm" . _:6a92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm involving the pancreas."; "NCIT:C3305" . _:6a94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010190"; "MONDO:equivalentTo" . _:6a96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3305"; "MONDO:equivalentTo", "exact-label-match" . _:6a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:PANCREAS"; "MONDO:equivalentTo" . _:6a99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126859007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:6a9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of pancreas"; "MONDO:patterns/neoplasm", "NCIT:C3305" . _:6a9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the pancreas"; "NCIT:C3305" . _:6aa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas neoplasm"; "NCIT:C3305" . _:6aa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas neoplasm (disease)"; "MONDO:patterns/location" . _:6aa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas tumor"; "MONDO:patterns/neoplasm", "NCIT:C3305" . _:6aa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic neoplasm"; "NCIT:C3305" . _:6aa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic neoplasm"; rdfs:comment "preferred label from MONDO" . _:6aabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic tumor"; "NCIT:C3305" . _:6aadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of pancreas"; "MONDO:patterns/neoplasm", "NCIT:C3305" . _:6aafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the pancreas"; "NCIT:C3305" . _:6ab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas"; "ONCOTREE:PANCREAS" . a owl:Class; rdfs:subClassOf , ; "Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.", "Tumors or cancer of the urogenital system in either the male or the female."; "Tomasz Adamusiak"; ; "ICD10:D07", "ICD10:D30", "ICD10:D41", "MESH:D014565", "MONDO:0025370", "MSH:D014565"; "Cancer, Genito-urinary", "Cancer, Genitourinary", "Cancer, Urogenital", "Cancers, Genito-urinary", "Cancers, Genitourinary", "Cancers, Urogenital", "GENITO URINARY NEOPL", "GENITOURINARY NEOPL", "Genito urinary Cancer", "Genito-urinary Cancer", "Genito-urinary Cancers", "Genito-urinary Neoplasm", "Genito-urinary Neoplasms", "Genitourinary Cancer", "Genitourinary Cancers", "Genitourinary Neoplasm", "Genitourinary Neoplasms", "NEOPL GENITOURINARY", "NEOPL UROGENITAL", "Neoplasm, Genito-urinary", "Neoplasm, Genitourinary", "Neoplasm, Urogenital", "Neoplasms, Genito-urinary", "Neoplasms, Genitourinary", "Neoplasms, Urogenital", "UROGENITAL NEOPL", "Urogenital Cancer", "Urogenital Cancers", "Urogenital Neoplasms", "genitourinary system neoplasm", "genitourinary system tumor", "neoplasm of genitourinary system", "tumor of genitourinary system", "urogenital neoplasm"; "genito-urinary neoplasm", "genito-urinary neoplasms", "genitourinary neoplasm", "genitourinary neoplasms", "neoplasm, genito-urinary", "neoplasm, genitourinary", "neoplasm, urogenital", "neoplasms, genito-urinary", "neoplasms, genitourinary", "neoplasms, urogenital"; "EFO:0003863"; rdfs:label "urogenital neoplasm" . _:6abbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tumors or cancer of the urogenital system in either the male or the female."; "MESH:D014565" . _:6abcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014565"; "MONDO:equivalentTo" . _:6abed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genitourinary system tumor"; "MONDO:patterns/neoplasm" . _:6abfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of genitourinary system"; "MONDO:patterns/neoplasm" . _:6ac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of genitourinary system"; "MONDO:patterns/neoplasm" . _:6ac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urogenital neoplasm"; "MESH:D014565" . _:6ac3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urogenital neoplasm"; rdfs:comment "preferred label from MONDO" . _:6ac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genito-urinary neoplasm"; "MESH:D014565" . _:6ac6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genito-urinary neoplasms"; "MESH:D014565" . _:6ac7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genitourinary neoplasm"; "MESH:D014565" . _:6acad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genitourinary neoplasms"; "MESH:D014565" . _:6acbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm, genito-urinary"; "MESH:D014565" . _:6acdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm, genitourinary"; "MESH:D014565" . _:6acfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm, urogenital"; "MESH:D014565" . _:6ad3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasms, genito-urinary"; "MESH:D014565" . _:6ad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasms, genitourinary"; "MESH:D014565" . _:6ad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasms, urogenital"; "MESH:D014565" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.", "Tumors or cancers of the KIDNEY."; "Tomasz Adamusiak"; , , ; , ; "DOID:263", "ICD10:C64", "ICD9:239.5", "MSH:D007680", "NCIT:C3150", "NCIt:C3150", "ONCOTREE:KIDNEY", "SCTID:126880001"; "Cancer of Kidney", "Cancer of the Kidney", "Cancer, Kidney", "Cancer, Renal", "Cancers, Kidney", "Cancers, Renal", "KIDNEY NEOPL", "Kidney Cancer", "Kidney Cancers", "Kidney Neoplasms", "NEOPL KIDNEY", "Neoplasm, Kidney", "Neoplasm, Renal", "Neoplasms, Kidney", "Neoplasms, Renal", "RENAL NEOPL", "Renal Cancer", "Renal Cancers", "Renal Neoplasm", "Renal Neoplasms", "kidney neoplasm", "kidney neoplasm (disease)", "kidney tumor", "neoplasm of kidney", "neoplasm of the kidney", "renal neoplasm", "renal tumor", "renal tumors", "tumor of kidney", "tumor of the kidney"; "EFO:0003865"; rdfs:label "kidney neoplasm" . _:6ae1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma."; "NCIT:C3150" . _:6ae5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.5"; "MONDO:relatedTo", "i2s" . _:6ae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3150"; "MONDO:equivalentTo" . _:6ae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:KIDNEY"; "MONDO:equivalentTo" . _:6ae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126880001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.92/0.06" . _:6ae9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney neoplasm"; "NCIT:C3150" . _:6aead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney neoplasm"; rdfs:comment "preferred label from MONDO" . _:6aebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney neoplasm (disease)"; "MONDO:patterns/location" . _:6aecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney tumor"; "MONDO:patterns/neoplasm", "NCIT:C3150" . _:6aedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of kidney"; "MONDO:patterns/neoplasm", "NCIT:C3150" . _:6aeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the kidney"; "NCIT:C3150" . _:6aefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal neoplasm"; "NCIT:C3150" . _:6af0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tumor"; "NCIT:C3150" . _:6af1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tumors"; "NCIT:C3150" . _:6af2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of kidney"; "MONDO:patterns/neoplasm", "NCIT:C3150" . _:6af3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the kidney"; "NCIT:C3150" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.", "Abnormal growth located in the breast or mammory gland."; "Tomasz Adamusiak"; , , ; , , , ; "true"; "COHD:81251", "HP:0100013", "ICD10:C50", "ICD10:D24", "ICD9:239.3", "MESH:D001943", "MONDO:0021100", "MSH:D001943", "NCIT:C2910", "NCIt:C2910", "OMIM:114480", "ONCOTREE:BREAST", "SCTID:126926005", "UMLS:CN236627"; "BREAST NEOPL", "Breast Neoplasms", "Breast Tumor", "Breast Tumors", "Human Mammary Neoplasm", "Human Mammary Neoplasms", "Mammary Neoplasm, Human", "Mammary Neoplasms, Human", "NEOPL BREAST", "Neoplasm, Breast", "Neoplasm, Human Mammary", "Neoplasms, Breast", "Neoplasms, Human Mammary", "Tumor, Breast", "Tumors, Breast", "breast neoplasm", "breast neoplasm (disease)", "breast tumor", "neoplasm of breast", "neoplasm of the breast", "neoplasm, breast", "tumor of breast", "tumor of the breast"; "EFO:0003869"; rdfs:label "breast neoplasm" . _:6b01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males."; "NCIT:C2910" . _:6b02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:81251"; "MONDO:equivalentTo" . _:6b04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.3"; "MONDO:equivalentTo", "i2s" . _:6b06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001943"; "MONDO:equivalentTo" . _:6b07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2910"; "MONDO:equivalentTo" . _:6b09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:BREAST"; "MONDO:equivalentTo" . _:6b0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126926005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.75/0.66" . _:6b0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN236627"; "MONDO:equivalentTo" . _:6b0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast neoplasm"; "NCIT:C2910" . _:6b0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast neoplasm"; rdfs:comment "preferred label from MONDO" . _:6b10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast neoplasm (disease)"; "MONDO:patterns/location" . _:6b12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast tumor"; "MONDO:patterns/neoplasm", "NCIT:C2910" . _:6b14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of breast"; "MONDO:patterns/neoplasm", "NCIT:C2910" . _:6b16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the breast"; "NCIT:C2910" . _:6b19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm, breast"; "NCIT:C2910" . _:6b1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of breast"; "MONDO:patterns/neoplasm", "NCIT:C2910" . _:6b1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the breast"; "NCIT:C2910" . a owl:Class; rdfs:subClassOf ; "Any disorder affecting blood flow through the veins or arteries outside of the heart.", "Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART."; "Tomasz Adamusiak"; , , , , , , ; , , ; "COHD:321052", "DOID:341", "ICD10:I73", "ICD9:443.81", "MESH:D016491", "MONDO:0005294", "MSH:D016491", "NCIT:C35136", "SNOMEDCT:400047006"; "Angiopathies, Peripheral", "Angiopathy, Peripheral", "DIS PERIPHERAL VASCULAR", "Disease, Peripheral Vascular", "Diseases, Peripheral Vascular", "PERIPHERAL VASCULAR DIS", "Peripheral Angiopathies", "Peripheral Angiopathy", "Peripheral Vascular Diseases", "VASCULAR DIS PERIPHERAL", "Vascular Disease, Peripheral", "Vascular Diseases, Peripheral", "arterial occlusive disease", "disease, peripheral vascular", "peripheral vascular disease", "peripheral vascular disorder", "vascular disease, peripheral"; "EFO:0003875"; rdfs:label "peripheral vascular disease" . _:6b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disorder affecting blood flow through the veins or arteries outside of the heart."; "NCIT:C35136" . _:6b2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:321052"; "MONDO:equivalentTo" . _:6b32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:341"; "EFO:0003875", "MONDO:equivalentTo" . _:6b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:443.81"; "DOID:341" . _:6b36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016491"; "EFO:0003875", "MONDO:equivalentTo" . _:6b3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35136"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:6b3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arterial occlusive disease"; "DOID:341" . _:6b3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, peripheral vascular"; "NCIT:C35136" . _:6b41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral vascular disease"; rdfs:comment "preferred label from MONDO" . _:6b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral vascular disorder"; "NCIT:C35136" . _:6b44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular disease, peripheral"; "NCIT:C35136" . a owl:Class; rdfs:subClassOf , , ; "A benign, borderline, or malignant neoplasm involving the ovary.", "Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS."; "Tomasz Adamusiak"; ; , , ; "ICD10:C56", "ICD9:239.5", "MSH:D010051", "NCIT:C4984", "NCIt:C4984", "SCTID:123843001", "UMLS:CN236629"; "Cancer of Ovary", "NEOPL OVARIAN", "Neoplasm, Ovarian", "Neoplasm, Ovary", "Neoplasms, Ovarian", "Neoplasms, Ovary", "OVARIAN NEOPL", "OVARY NEOPL", "Ovarian Neoplasms", "Ovary Neoplasm", "Ovary Neoplasms", "neoplasm of ovary", "neoplasm of the ovary", "ovarian neoplasm", "ovarian tumor", "ovarian tumors", "ovary neoplasm", "ovary neoplasm (disease)", "ovary tumor", "tumor of ovary", "tumor of the ovary"; "EFO:0003893"; rdfs:label "ovarian neoplasm" . _:6b51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, borderline, or malignant neoplasm involving the ovary."; "NCIT:C4984" . _:6b52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.5"; "MONDO:relatedTo", "i2s" . _:6b53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4984"; "MONDO:equivalentTo" . _:6b54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:123843001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.75/0.39" . _:6b55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN236629"; "MONDO:equivalentTo" . _:6b56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of ovary"; "MONDO:patterns/neoplasm", "NCIT:C4984" . _:6b57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the ovary"; "NCIT:C4984" . _:6b58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian neoplasm"; "NCIT:C4984" . _:6b59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian neoplasm"; rdfs:comment "preferred label from MONDO" . _:6b5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian tumor"; "NCIT:C4984" . _:6b5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian tumors"; "NCIT:C4984" . _:6b5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary neoplasm (disease)"; "MONDO:patterns/location" . _:6b5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary tumor"; "MONDO:patterns/neoplasm" . _:6b61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of ovary"; "MONDO:patterns/neoplasm", "NCIT:C4984" . _:6b69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the ovary"; "NCIT:C4984" . a owl:Class; rdfs:subClassOf ; "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint."; "Tomasz Adamusiak"; ; ; "MESH:D003286", "MONDO:0005307", "MSH:D003286", "SNOMEDCT:57048009"; "Contractures", "contracture"; "EFO:0003899"; rdfs:label "contracture" . _:6b6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint."; "MESH:D003286" . _:6b70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003286"; "EFO:0003899", "MONDO:equivalentTo", "MONDO:ontobio" . _:6b71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "contracture"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.", "Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms."; "Tomasz Adamusiak"; , , ; "DOID:0060340", "GTR:AN0966173", "MONDO:0005308", "MSH:D002925", "OMIM:244400", "Orphanet:363250", "SNOMEDCT:86204009", "UMLS:CN580792"; "CILIARY MOTILITY DIS", "Cilia Syndrome, Immotile", "Cilia Syndromes, Immotile", "Ciliary Dyskinesia", "Ciliary Dyskinesias", "Ciliary Motility Disorder", "Ciliary Motility Disorders", "Disorder, Ciliary Motility", "Disorders, Ciliary Motility", "Dyskinesia, Ciliary", "Dyskinesias, Ciliary", "Immotile Cilia Syndrome", "Immotile Cilia Syndromes", "Syndrome, Immotile Cilia", "Syndromes, Immotile Cilia", "ciliopathy"; "ciliopathies"; "EFO:0003900"; ; rdfs:label "ciliopathy" . _:6b7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function."; "http://en.wikipedia.org/wiki/Ciliopathy" . _:6b7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060340"; "EFO:0003900", "MONDO:equivalentTo" . _:6b81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0966173"; "UMLS:CN580792" . _:6b82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:363250"; "MONDO:equivalentTo" . _:6b83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN580792"; "MONDO:equivalentTo" . _:6b84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ciliopathy"; rdfs:comment "preferred label from MONDO" . _:6b86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ciliopathies"; "GTR:AN0966173" . a owl:Class; rdfs:subClassOf ; "CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)."; "Tomasz Adamusiak"; "true"; "ICD10:O60", "MSH:D047928", "NCIt:C92861"; "Birth, Premature", "Birth, Preterm", "Births, Premature", "Births, Preterm", "Premature Births", "Preterm Birth", "Preterm Births"; rdfs:label "premature birth" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.", "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [NCIt:C26767]", "An eye and adnexa disease that is located in the eye."; "Catherine Leroy", "Gautier Koscielny", "Tomasz Adamusiak"; , , , , , , , , , ; , , , , ; "COHD:375252", "DOID:5614", "ICD10:H44", "ICD10:H44.9", "ICD9:360", "ICD9:360.89", "ICD9:360.9", "ICD9:379.8", "ICD9:379.90", "MESH:D005128", "MONDO:0005328", "MSH:D005128", "NCIT:C26767", "NCIt:C26767", "SCTID:371405004", "UMLS:C0015397", "Wikipedia:Eye_disease"; "disease of eye", "disease of eyeball of camera-type eye", "disease or disorder of eyeball of camera-type eye", "disorder of eye", "disorder of eyeball of camera-type eye", "eye disease", "eye disorder", "eyeball of camera-type eye disease", "eyeball of camera-type eye disease or disorder"; "disease of eyeball", "disorder of eye proper", "disorder of eyeball", "disorder of eyeball of camera-type eye", "disorder of globe"; "EFO:0003966"; rdfs:label "eye disease" . _:6b94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."; "NCIT:C26767" . _:6b96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [NCIt:C26767]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6b97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6b99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:375252"; "MONDO:equivalentTo" . _:6b9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5614"; "EFO:0003966", "MONDO:equivalentTo" . _:6ba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H44"; "DOID:5614" . _:6ba2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H44.9"; "DOID:5614" . _:6ba3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360"; "DOID:5614" . _:6ba4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360.89"; "MONDO:relatedTo", "i2s" . _:6ba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360.9"; "DOID:5614", "MONDO:equivalentTo", "i2s" . _:6ba8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:379.8"; "MONDO:relatedTo", "i2s" . _:6baad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:379.90"; "DOID:5614", "MONDO:equivalentTo", "i2s" . _:6bacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005128"; "DOID:5614", "MONDO:equivalentTo", "MONDO:ontobio" . _:6baed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D005128"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6bafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26767"; "DOID:5614", "MONDO:equivalentTo" . _:6bb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C26767"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6bb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:371405004"; "DOID:5614", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.61" . _:6bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015397"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015397"; "DOID:5614", "MONDO:equivalentTo", "NCIT:C26767" . _:6bbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Eye_disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6bbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of eye"; "MONDO:patterns/location_top" . _:6bbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of eyeball of camera-type eye"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:6bbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of eye"; "MONDO:patterns/location_top" . _:6bbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of eyeball of camera-type eye"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:6bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye disease"; "MONDO:patterns/location", "NCIT:C26767" . _:6bc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye disease"; rdfs:comment "preferred label from MONDO" . _:6bc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6bc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye disorder"; "NCIT:C26767" . _:6bc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyeball of camera-type eye disease"; "MONDO:design_pattern" . _:6bcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyeball of camera-type eye disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:6bced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of eyeball of camera-type eye"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.", "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane."; "Catherine Leroy"; , ; "MESH:D009394", "MONDO:0005334", "MSH:D009394", "SCTID:399340005"; "hereditary nephritis", "nephritis, hereditary"; "familial nephritis", "nephritis, familial"; "EFO:0004128"; rdfs:label "hereditary nephritis" . _:6bd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane."; "EFO:0004128" . _:6bd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009394"; "EFO:0004128", "MONDO:equivalentTo" . _:6bd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:399340005"; "MONDO:equivalentTo" . _:6bd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary nephritis"; "MESH:D009394", "MONDO:patterns/hereditary" . _:6bd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary nephritis"; rdfs:comment "preferred label from MONDO" . _:6bd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial nephritis"; "MESH:D009394" . _:6bdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephritis, familial"; "MESH:D009394" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.", "uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix."; "James Malone"; ; , ; "MONDO:0021236"; "MESH:D015179", "MONDO:0005335", "MSH:D015179", "NCIT:C2956", "NCIt:C2956", "OMIM:114500"; "COLORECTAL NEOPL", "Colorectal Neoplasm", "Colorectal Neoplasms", "NEOPL COLORECTAL", "Neoplasm, Colorectal", "Neoplasms, Colorectal", "colorectal neoplasm", "colorectal tumor", "colorectum neoplasm", "colorectum neoplasm (disease)", "colorectum tumor", "large bowel neoplasm", "large bowel tumor", "large intestinal neoplasm", "large intestine neoplasm", "large intestine tumor", "neoplasm of colorectum", "neoplasm of large bowel", "neoplasm of the large bowel", "tumor of colorectum", "tumor of large bowel", "tumor of the large bowel"; "EFO:0004142"; rdfs:label "colorectal neoplasm" . _:6be6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms."; "NCIT:C2956" . _:6be7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015179"; "EFO:0004142", "MONDO:equivalentTo" . _:6be8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2956"; "EFO:0004142", "MONDO:equivalentTo", "exact-label-match" . _:6be9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorectal neoplasm"; "NCIT:C2956" . _:6bead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorectal neoplasm"; rdfs:comment "preferred label from MONDO" . _:6becd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorectal tumor"; "NCIT:C2956" . _:6beed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorectum neoplasm (disease)"; "MONDO:patterns/location" . _:6befd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorectum tumor"; "MONDO:patterns/neoplasm" . _:6bf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "large bowel neoplasm"; "NCIT:C2956" . _:6bf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "large bowel tumor"; "NCIT:C2956" . _:6bf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "large intestinal neoplasm"; "NCIT:C2956" . _:6bf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "large intestine neoplasm"; "NCIT:C2956" . _:6bf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "large intestine tumor"; "NCIT:C2956" . _:6bf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of colorectum"; "MONDO:patterns/neoplasm" . _:6bf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of large bowel"; "NCIT:C2956" . _:6bfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the large bowel"; "NCIT:C2956" . _:6bfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of colorectum"; "MONDO:patterns/neoplasm" . _:6bffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of large bowel"; "NCIT:C2956" . _:6c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the large bowel"; "NCIT:C2956" . a owl:Class; rdfs:subClassOf , ; "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."; , , , , , , , ; , , , ; "true"; "DOID:423", "ICD10:G72.9", "ICD10:M60-M63", "ICD10:M62.9", "ICD9:359.8", "ICD9:359.9", "ICD9:728.3", "MONDO:0005336", "NCIT:C101216", "NCIt:C101216", "OMIM:181430", "OMIM:300695", "SCTID:129565002", "UMLS:C0026848"; "myopathy"; "EFO:0004145"; rdfs:comment "Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition"; rdfs:label "myopathy" . _:6c02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."; "https://en.wikipedia.org/wiki/Myopathy" . _:6c03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:423"; "EFO:0004145", "MONDO:equivalentTo" . _:6c05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G72.9"; "DOID:423" . _:6c07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M60-M63"; "DOID:423" . _:6c09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M62.9"; "DOID:423" . _:6c0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.8"; "MONDO:relatedTo", "i2s" . _:6c0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.9"; "DOID:423", "MONDO:equivalentTo", "i2s" . _:6c0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:728.3"; "MONDO:relatedTo", "i2s" . _:6c0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C101216"; "DOID:423", "EFO:0004145", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:6c10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:129565002"; "DOID:423", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/6.32" . _:6c12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026848"; "DOID:423", "MONDO:equivalentTo", "NCIT:C101216" . _:6c15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness."; "true"; "DOID:870", "ICD10:G60", "NCIt:C4731", "SNOMEDCT:386033004"; rdfs:label "neuropathy" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.", "Tumors or cancer of the SKIN."; "Dani Welter"; , , ; , , , , ; "DOID:3165", "DOID:4159", "ICD10:C44", "ICD10:D04", "ICD10:D23", "ICD9:239.2", "MESH:D012878", "MONDO:0002531", "MSH:D012878", "NCIT:C3372", "NCIt:C3372", "ONCOTREE:SKIN", "SCTID:126488004", "UMLS:C0037286"; "cancer of the skin", "neoplasm of skin", "neoplasm of skin by site", "neoplasm of the skin", "neoplasm of zone of skin", "skin cancer", "skin neoplasm", "skin neoplasms", "skin tumor", "tumor of skin", "tumor of the skin", "tumor of zone of skin", "zone of skin neoplasm", "zone of skin neoplasm (disease)", "zone of skin tumor"; "skin", "skin benign neoplasm"; "EFO:0004198"; rdfs:label "skin neoplasm" . _:6c22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma."; "NCIT:P378" . _:6c23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3165"; "MONDO:equivalentTo" . _:6c24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.2"; "MONDO:relatedTo", "i2s" . _:6c25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012878"; "DOID:3165", "MONDO:equivalentTo" . _:6c26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3372"; "DOID:3165", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.74/0.38" . _:6c29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:SKIN"; "MONDO:equivalentTo" . _:6c2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126488004"; "DOID:3165", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:6c2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037286"; "DOID:3165", "MONDO:equivalentTo", "NCIT:C3372" . _:6c30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of skin"; "NCIT:C3372" . _:6c31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of skin by site"; "DOID:3165" . _:6c33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the skin"; "NCIT:C3372" . _:6c34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of zone of skin"; "MONDO:patterns/neoplasm" . _:6c36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin neoplasm"; "CSP2005:2020-0536", "DOID:3165", "NCIT:C3372" . _:6c39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin neoplasm"; rdfs:comment "preferred label from MONDO" . _:6c3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin neoplasms"; "NCIT:C3372" . _:6c3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin tumor"; "NCIT:C3372" . _:6c3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of skin"; "NCIT:C3372" . _:6c40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the skin"; "DOID:3165", "NCIT:C3372" . _:6c42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of zone of skin"; "MONDO:patterns/neoplasm" . _:6c44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin neoplasm (disease)"; "MONDO:patterns/location" . _:6c46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin tumor"; "MONDO:patterns/neoplasm" . _:6c48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin"; "ONCOTREE:SKIN" . _:6c4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin benign neoplasm"; "DOID:3165" . a owl:Class; rdfs:subClassOf ; "A general term for the complete or partial loss of the ability to hear from one or both ears.", "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central."; "Dani Welter"; ; , , , ; "true"; "COHD:377889", "ICD10:H90", "ICD10:H91", "ICD9:389", "ICD9:389.8", "ICD9:389.9", "MESH:D034381", "MONDO:0005365", "MSH:D034381", "NCIT:C35731", "NCIt:C35731", "SCTID:15188001", "SNOMEDCT:15188001", "UMLS:C1384666"; "hearing impairment", "hearing loss", "hearing loss disorder", "hypoacuses", "hypoacusis", "loss of hearing", "loss, hearing"; "deafness"; "EFO:0004238"; rdfs:label "hearing loss" . _:6c4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central."; "NCIT:C35731" . _:6c4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:377889"; "MONDO:equivalentTo" . _:6c50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H90"; "MONDO:equivalentTo" . _:6c52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:389"; "EFO:0004238" . _:6c55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:389.8"; "MONDO:relatedTo", "i2s" . _:6c57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:389.9"; "MONDO:equivalentTo", "i2s" . _:6c59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D034381"; "EFO:0004238", "MONDO:equivalentTo", "MONDO:ontobio" . _:6c5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35731"; "EFO:0004238", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:6c5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15188001"; "EFO:0004238", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/14.84" . _:6c5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1384666"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:6c60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hearing impairment"; "MESH:D034381" . _:6c62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hearing loss"; "NCIT:C35731" . _:6c64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hearing loss disorder"; rdfs:comment "preferred label from MONDO" . _:6c65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoacuses"; "MESH:D034381" . _:6c66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoacusis"; "MESH:D034381" . _:6c68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "loss of hearing"; "NCIT:C35731" . _:6c6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "loss, hearing"; "MESH:D034381" . _:6c6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deafness"; "MONDO:cjm" . a owl:Class; rdfs:subClassOf , ; "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.", "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features."; "Dani Welter"; ; , , , , , ; "true"; "COHD:4119786", "DOID:3082", "GARD:0013336", "ICD10:J84", "ICD10:J84.9", "MESH:D017563", "MONDO:0015925", "MSH:D017563", "MedDRA:10022611", "OMIM:616414", "Orphanet:182095", "SCTID:233703007", "SNOMEDCT:233703007", "UMLS:C0206062"; "ILD", "interstitial lung disease", "lung disease, interstitial", "lung diseases, interstitial"; "EFO:0004244"; ; rdfs:label "interstitial lung disease" . _:6c6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features."; "MESH:D017563" . _:6c70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4119786"; "MONDO:equivalentTo" . _:6c71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3082"; "EFO:0004244", "MONDO:equivalentTo" . _:6c72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013336"; "MONDO:equivalentTo" . _:6c73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J84.9"; "DOID:3082" . _:6c75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017563"; "DOID:3082", "EFO:0004244", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:182095/e", "Orphanet:182095" . _:6c79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10022611"; "ORDO:182095/e", "Orphanet:182095" . _:6c7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616414"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6c80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182095"; "MONDO:equivalentTo" . _:6c81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:233703007"; "DOID:3082", "EFO:0004244", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.91" . _:6c84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206062"; "DOID:3082", "MONDO:equivalentTo", "ORDO:182095/e", "Orphanet:182095" . _:6c86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ILD"; "CSP2005:4007-0072", "DOID:3082", "Orphanet:182095" . _:6c89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "interstitial lung disease"; "MONDO:0005370" . _:6c8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "interstitial lung disease"; rdfs:comment "preferred label from MONDO" . _:6c8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182095" . a owl:Class; rdfs:subClassOf , ; "The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.", "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility."; "Dani Welter"; , ; , , , ; "true"; "COHD:198197", "DOID:12336", "ICD10:N46", "ICD10:N46.9", "ICD9:606", "ICD9:606.9", "MESH:D007248", "MONDO:0005372", "MSH:D007248", "SCTID:2904007", "SNOMEDCT:2904007", "UMLS:C0021364"; "infertility disorder of male reproductive system", "infertility, male", "male infertility", "male reproductive system infertility", "male reproductive system infertility disorder", "male sterility", "sterility, male"; "EFO:0004248"; rdfs:label "male infertility" . _:6c8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility."; "MESH:D007248" . _:6c8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:198197"; "MONDO:equivalentTo" . _:6c8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12336"; "EFO:0004248", "MONDO:equivalentTo" . _:6c92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "DOID:12336", "MONDO:equivalentTo" . _:6c94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46.9"; "DOID:12336" . _:6c96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:606"; "DOID:12336", "EFO:0004248", "MONDO:equivalentTo" . _:6c98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:606.9"; "DOID:12336", "MONDO:equivalentTo", "i2s" . _:6c9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007248"; "DOID:12336", "EFO:0004248", "MONDO:equivalentTo", "MONDO:ontobio" . _:6c9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:2904007"; "DOID:12336", "EFO:0004248", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:6c9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021364"; "DOID:12336", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:6ca2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infertility disorder of male reproductive system"; "MONDO:design_pattern" . _:6ca4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male infertility"; rdfs:comment "preferred label from MONDO" . _:6ca6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system infertility"; "MONDO:patterns/location" . _:6ca8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system infertility disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf , ; "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.", "A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction."; "Dani Welter"; , ; , , , , ; "true"; "COHD:195314", "DOID:1184", "ICD10:N04", "ICD9:581", "ICD9:581.9", "MESH:D009404", "MONDO:0005377", "MSH:D009404", "NCIT:C34845", "NCIt:C34845", "OMIM:615861", "SCTID:52254009", "SNOMEDCT:52254009", "UMLS:C0027726"; "Finnish congenital nephrosis", "nephrotic syndrome", "nephrotic syndrome (acquired)", "nephrotic syndromes", "syndrome, nephrotic", "syndromes, nephrotic"; "nephrosis"; "EFO:0004255"; rdfs:label "nephrotic syndrome" . _:6cb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction."; "NCIT:C34845" . _:6cb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:195314"; "MONDO:equivalentTo" . _:6cb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1184"; "EFO:0004255", "MONDO:equivalentTo" . _:6cb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04"; "DOID:1184" . _:6cb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:581"; "DOID:1184", "EFO:0004255" . _:6cbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:581.9"; "MONDO:equivalentTo", "i2s" . _:6cbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009404"; "DOID:1184", "EFO:0004255", "MONDO:equivalentTo" . _:6cbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34845"; "DOID:1184", "EFO:0004255", "MONDO:equivalentTo" . _:6cc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615861"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6cc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:52254009"; "DOID:1184", "EFO:0004255", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:6cc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027726"; "DOID:1184", "MONDO:equivalentTo", "NCIT:C34845" . _:6cc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finnish congenital nephrosis"; "DOID:1184" . _:6cc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome"; "NCIT:C34845" . _:6cc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome"; rdfs:comment "preferred label from MONDO" . _:6cccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndromes"; "MESH:D009404" . _:6cced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, nephrotic"; "MESH:D009404" . _:6ccfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, nephrotic"; "MESH:D009404" . _:6cd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrosis"; "NCIT:C34845" . a owl:Class; rdfs:subClassOf ; "A none disease characterized by death of bone tissue due to a lack of blood supply.", "Death of a bone or part of a bone, either atraumatic or posttraumatic."; "Dani Welter"; , , , , , , , , , , , , , , , , , , , , ; , , , , , , ; ; "true"; "COHD:4344387", "DOID:0080008", "DOID:10159", "GARD:0012057", "ICD10:M87", "ICD10:M87.0", "ICD10:M87.1", "ICD10:M87.2", "ICD10:M87.3", "ICD10:M87.8", "ICD10:M87.9", "ICD9:732.3", "ICD9:733.4", "ICD9:733.41", "ICD9:733.42", "ICD9:733.43", "ICD9:733.44", "ICD9:733.49", "MESH:D010020", "MONDO:0005380", "MSH:D010020", "NCIT:C34880", "NCIT:C35476", "NCIt:C34841", "NCIt:C35476", "Orphanet:399158", "SCTID:240196003", "SNOMEDCT:397758007", "SNOMEDCT:398199007"; "aseptic necrosis", "aseptic necrosis of bone", "avascular necrosis", "avascular necrosis of bone", "bone necrosis", "ischemic bone disease", "osteonecrosis"; "EFO:0004259"; ; rdfs:label "osteonecrosis" . _:6cd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A none disease characterized by death of bone tissue due to a lack of blood supply."; "https://www.mayoclinic.org/diseases-conditions/avascular-necrosis/symptoms-causes/syc-20369859" . _:6cd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399158" . _:6cd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4344387"; "MONDO:equivalentTo" . _:6cd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080008"; "MONDO:equivalentTo" . _:6cdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10159"; "EFO:0004259", "MONDO:equivalentTo" . _:6cded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012057"; "MONDO:equivalentTo" . _:6cdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87"; "DOID:10159", "MONDO:equivalentTo" . _:6ce0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.0"; "ORDO:399158/ntbt", "Orphanet:399158" . _:6ce3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.1"; "ORDO:399158/ntbt", "Orphanet:399158" . _:6ce4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.2"; "ORDO:399158/ntbt", "Orphanet:399158" . _:6ce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.3"; "ORDO:399158/ntbt", "Orphanet:399158" . _:6ce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.8"; "ORDO:399158/ntbt", "Orphanet:399158" . _:6cebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M87.9"; "DOID:10159", "ORDO:399158/ntbt", "Orphanet:399158" . _:6cedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:732.3"; "DOID:10159" . _:6cefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.4"; "EFO:0004259" . _:6cf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.41"; "DOID:10159" . _:6cf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.42"; "DOID:10159" . _:6cf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.43"; "DOID:10159" . _:6cf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.44"; "DOID:10159" . _:6cf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.49"; "DOID:10159" . _:6cfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010020"; "DOID:10159", "EFO:0004259", "MONDO:equivalentTo" . _:6cfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34880"; "DOID:10159", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.67/2.17" . _:6cfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35476"; "EFO:0004259", "MONDO:equivalentTo" . _:6d01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:399158"; "MONDO:equivalentTo" . _:6d04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:240196003"; "DOID:10159", "MONDO:equivalentTo" . _:6d07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aseptic necrosis"; "DOID:10159" . _:6d08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "avascular necrosis"; "https://en.wikipedia.org/wiki/Avascular_necrosis" . _:6d0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "avascular necrosis of bone"; "DOID:10159", "NCIT:C34841" . _:6d0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone necrosis"; "CSP2005:2715-1650", "DOID:10159", "NCIT:C34880", "Orphanet:399158" . _:6d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ischemic bone disease"; "MONDO:0000835" . _:6d0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteonecrosis"; "NCIT:C34880" . _:6d0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteonecrosis"; rdfs:comment "preferred label from MONDO" . _:6d0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399158" . a owl:Class; rdfs:subClassOf , ; "Diseases of BONES.", "Diseases of bones."; "Dani Welter"; , , , , ; , , , ; "DOID:0080001", "ICD10:M46", "ICD10:M48", "ICD10:M49", "ICD10:M84", "ICD10:M89", "ICD10:M89.9", "ICD10:M90", "ICD9:731.8", "ICD9:733.99", "MESH:D001847", "MONDO:0005381", "SCTID:76069003", "UMLS:C0005940"; "bone disease", "bone element disease", "bone element disease or disorder", "disease of bone element", "disease or disorder of bone element", "disorder of bone element"; "disorder of bone element", "skeletal disease"; "EFO:0004260"; rdfs:label "bone disease" . _:6d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diseases of bones."; "MESH:D001847" . _:6d14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080001"; "EFO:0004260", "MONDO:equivalentTo" . _:6d16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M89.9"; "DOID:0080001" . _:6d18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:731.8"; "MONDO:relatedTo", "i2s" . _:6d1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.99"; "MONDO:relatedTo", "i2s" . _:6d1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001847"; "DOID:0080001", "MONDO:equivalentTo", "MONDO:ontobio" . _:6d20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:76069003"; "DOID:0080001", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/6.59" . _:6d23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005940"; "DOID:0080001", "MONDO:equivalentTo" . _:6d24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone disease"; rdfs:comment "preferred label from MONDO" . _:6d25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone element disease"; "MONDO:patterns/location" . _:6d26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone element disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:6d27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of bone element"; "MONDO:patterns/location_top" . _:6d28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bone element"; "MONDO:patterns/location_top" . _:6d29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bone element"; "MONDO:patterns/location_top" . _:6d2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal disease"; "DOID:0080001" . a owl:Class; rdfs:subClassOf ; "A seizure caused by a localized disorder.", "Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)."; "Dani Welter"; , , , , ; , , , , ; "true"; "DOID:2234", "ICD9:345.50", "MESH:D004828", "MONDO:0005384", "MSH:D004828", "NCIT:C122812", "SCTID:230381009", "UMLS:C0014547"; "epilepsies, partial", "focal epilepsy", "localisation-related epilepsy", "partial epilepsies", "partial epilepsy"; "focal epilepsy"; "EFO:0004263"; rdfs:label "partial epilepsy" . _:6d2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A seizure caused by a localized disorder."; "NCIT:P378" . _:6d2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2234"; "EFO:0004263", "MONDO:equivalentTo" . _:6d2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.50"; "MONDO:equivalentTo", "i2s" . _:6d30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004828"; "DOID:2234", "EFO:0004263", "MONDO:equivalentTo" . _:6d31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122812"; "DOID:2234", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:6d32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230381009"; "DOID:2234", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.95" . _:6d33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014547"; "DOID:2234", "MONDO:equivalentTo", "NCIT:C122812" . _:6d35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "localisation-related epilepsy"; "DOID:2234" . _:6d37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial epilepsy"; "DOID:2234" . _:6d3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial epilepsy"; rdfs:comment "preferred label from MONDO" . _:6d3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "focal epilepsy"; "DOID:2234" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma.", "Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body."; "Dani Welter"; , , , , , , , , , , , , ; , , , , , ; "true"; "DOID:178", "ICD10:I72.9", "ICD10:I77", "ICD10:I78", "ICD10:I87", "ICD10:K55", "ICD9:442.9", "MESH:D014652", "MONDO:0005385", "MSH:D014652", "NCIT:C35117", "SCTID:27550009", "UMLS:C0042373"; "disease of vasculature", "disease or disorder of vasculature", "disorder of vasculature", "vascular disease", "vascular diseases", "vascular disorder", "vascular tissue disease", "vasculature disease", "vasculature disease or disorder"; "disorder of vasculature"; "EFO:0004264"; rdfs:label "vascular disease" . _:6d48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma."; "NCIT:C35117" . _:6d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:178"; "EFO:0004264", "MONDO:equivalentTo" . _:6d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I72.9"; "DOID:178" . _:6d4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:442.9"; "DOID:178" . _:6d4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014652"; "DOID:178", "EFO:0004264", "MONDO:equivalentTo", "MONDO:ontobio" . _:6d4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35117"; "DOID:178", "MONDO:equivalentTo" . _:6d50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:27550009"; "DOID:178", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.50" . _:6d53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042373"; "DOID:178", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C35117" . _:6d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of vasculature"; "MONDO:patterns/location_top" . _:6d59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vasculature"; "MONDO:patterns/location_top" . _:6d5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular disease"; rdfs:comment "preferred label from MONDO" . _:6d5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular disorder"; "NCIT:C35117" . _:6d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular tissue disease"; "DOID:178" . _:6d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vasculature disease"; "MONDO:patterns/location" . _:6d61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vasculature disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:6d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vasculature"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.", "Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections."; "Dani Welter"; , , , , ; , , , , , ; "true"; "DOID:5426", "ICD10:E28.3", "ICD9:253.4", "ICD9:256.39", "MESH:D016649", "MONDO:0005387", "MSH:D016649", "NCIT:C113352", "OMIM:300511", "OMIM:300604", "OMIM:311360", "OMIM:608996", "OMIM:611548", "OMIM:612310", "OMIM:612885", "OMIM:612964", "OMIM:613291", "OMIM:615723", "OMIM:615724", "OMIM:616946", "OMIM:616947", "OMIMPS:311360", "SCTID:370999003", "SCTID:65846009", "SNOMEDCT:237788002", "SNOMEDCT:80956002", "UMLS:C0085215"; "hypergonadotropic hypogonadism", "hypergonadotropic hypogonadism (female)", "premature ovarian failure", "primary ovarian failure", "primary ovarian insufficiency", "resistant ovary syndrome"; "female hypergonadotropic hypogonadism", "hypergonadotrophic ovarian failure", "premature menopause", "premature ovarian failure", "premature ovarian insufficiency", "primary female hypogonadism"; "EFO:0004266"; rdfs:label "primary ovarian insufficiency" . _:6d6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries."; "NCIT:C113352" . _:6d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5426"; "EFO:0004266", "MONDO:equivalentTo" . _:6d6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E28.3"; "DOID:5426", "MONDO:equivalentTo" . _:6d6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.4"; "MONDO:relatedTo", "i2s" . _:6d70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:256.39"; "linkedlifedata" . _:6d72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016649"; "DOID:5426", "EFO:0004266", "MONDO:equivalentTo" . _:6d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C113352"; "DOID:5426", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.08" . _:6d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612885"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6d78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615723"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615724"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6d7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616946"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6d7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616947"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:311360"; "MONDO:equivalentTo" . _:6d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:370999003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/6.24" . _:6d84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:65846009"; "DOID:5426", "MONDO:equivalentTo" . _:6d86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085215"; "DOID:5426", "MONDO:equivalentTo" . _:6d88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypergonadotropic hypogonadism"; "DOID:5426" . _:6d89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypergonadotropic hypogonadism (female)"; "NCIT:C113352" . _:6d8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ovarian failure"; "NCIT:C113352" . _:6d8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ovarian failure"; rdfs:comment "preferred label from MONDO" . _:6d8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ovarian insufficiency"; "DOID:5426", "NCIT:C113352" . _:6d8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "premature menopause"; "DOID:5426" . _:6d8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "premature ovarian failure"; "MESH:D016649" . _:6d8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "premature ovarian insufficiency"; "DOID:5426" . a owl:Class; rdfs:subClassOf ; "A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin."; "Dani Welter"; "http://purl.obolibrary.org/obo/HP_0001903"; "true"; "DOID:2355", "HP:0001903", "MSH:D000740", "NCIt:C2869", "OMIM:300908", "SNOMEDCT:271737000"; rdfs:label "anemia" . _:6d90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300908"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf ; "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.", "Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions."; "Dani Welter"; ; , , , ; "true"; "COHD:372604", "DOID:480", "ICD10:G25", "ICD9:333.90", "ICD9:333.99", "MESH:D009069", "MONDO:0005395", "MSH:D009069", "NCIT:C116757", "NCIt:C116757", "SCTID:60342002", "SNOMEDCT:60342002"; "movement disease", "movement disorder", "movement disorders", "tardive dyskinesia"; "EFO:0004280"; rdfs:label "movement disorder" . _:6d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."; "NCIT:C116757" . _:6d9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:372604"; "MONDO:equivalentTo" . _:6d9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:480"; "MONDO:equivalentTo" . _:6d9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.90"; "MONDO:relatedTo", "i2s" . _:6da0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.99"; "MONDO:relatedTo", "i2s" . _:6da2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009069"; "DOID:480", "EFO:0004280", "MONDO:equivalentTo" . _:6da4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C116757"; "DOID:480", "EFO:0004280", "MONDO:equivalentTo", "exact-label-match" . _:6da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:60342002"; "DOID:480", "EFO:0004280", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:6daad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "movement disease"; "MONDO:0003151" . _:6dacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "movement disorder"; rdfs:comment "preferred label from MONDO" . _:6daed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "movement disorders"; "NCIT:C116757" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.", "Tumors or cancer of the COLON."; "Dani Welter"; , , ; "true"; "DOID:219", "MESH:D003110", "MONDO:0005401", "MSH:D003110", "NCIT:C2953", "NCIt:C2953", "UMLS:C0009375"; "colon cancer", "colon neoplasm", "colon neoplasm (disease)", "colon tumor", "colonic cancer", "colonic neoplasm", "colonic neoplasms", "colonic tumor", "neoplasm of colon", "neoplasm of the colon", "tumor of colon", "tumor of the colon"; "EFO:0004288"; rdfs:label "colonic neoplasm" . _:6db3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms."; "NCIT:C2953" . _:6db4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003110"; "DOID:219", "EFO:0004288", "MONDO:equivalentTo" . _:6db5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2953"; "EFO:0004288", "MONDO:equivalentTo" . _:6db6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0009375"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C2953" . _:6db7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colon neoplasm"; "NCIT:C2953" . _:6db8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colon neoplasm (disease)"; "MONDO:patterns/location" . _:6dbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colon tumor"; "MONDO:patterns/neoplasm", "NCIT:C2953" . _:6dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colonic neoplasm"; "NCIT:C2953" . _:6dc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colonic neoplasm"; rdfs:comment "preferred label from MONDO" . _:6dc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colonic tumor"; "NCIT:C2953" . _:6dc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of colon"; "MONDO:patterns/neoplasm", "NCIT:C2953" . _:6dc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the colon"; "NCIT:C2953" . _:6dc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of colon"; "MONDO:patterns/neoplasm", "NCIT:C2953" . _:6dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the colon"; "NCIT:C2953" . a owl:Class; rdfs:subClassOf ; "Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body."; "Dani Welter"; "true"; "MSH:D000886"; "anthropometric traits", "anthropometry"; rdfs:label "anthropometric measurement" . a owl:Class; rdfs:subClassOf ; "Measurements of the height, weight, length, area, etc., of the human and animal body or its parts."; "Dani Welter"; "true"; "MSH:D001837"; "body measures"; rdfs:label "body weights and measures" . a owl:Class; rdfs:subClassOf ; "The distance from the sole to the crown of the head with body standing on a flat surface and fully extended."; "Dani Welter"; "true"; "MSH:D001827", "NCIt:C25347"; "height"; rdfs:label "body height" . a owl:Class; rdfs:subClassOf ; "A deficiency of thyroid hormone.", "Abnormally low levels of thyroid hormone."; "Helen Parkinson"; , , , , , , ; , , , ; "http://purl.obolibrary.org/obo/HP_0000821"; "true"; "COHD:140673", "DOID:1459", "ICD10:E03", "ICD10:E03.9", "ICD9:244.9", "MESH:D007037", "MONDO:0005420", "MSH:D007037", "NCIT:C26800", "NCIt:C26800", "SCTID:40930008", "SNOMEDCT:40930008"; "hypothyroidism", "thyroid deficiency", "thyroid insufficiency", "underactive thyroid"; "hypothyroid"; "EFO:0004705"; rdfs:label "hypothyroidism" . _:6dd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormally low levels of thyroid hormone."; "NCIT:P378" . _:6dd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:140673"; "MONDO:equivalentTo" . _:6dd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1459"; "EFO:0004705", "MONDO:equivalentTo" . _:6dd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E03.9"; "DOID:1459" . _:6dd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:244.9"; "DOID:1459", "linkedlifedata" . _:6dd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007037"; "DOID:1459", "EFO:0004705", "MONDO:equivalentTo", "MONDO:ontobio" . _:6dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26800"; "DOID:1459", "EFO:0004705", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:6ddcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:40930008"; "DOID:1459", "EFO:0004705", "MONDO:equivalentTo" . _:6ddfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypothyroidism"; rdfs:comment "preferred label from MONDO" . _:6de1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid deficiency"; "DOID:1459" . _:6de3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid insufficiency"; "DOID:1459" . _:6de4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "underactive thyroid"; "NCIT:C26800" . a owl:Class; rdfs:subClassOf ; "The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer."; "Helen Parkinson"; "http://purl.bioontology.org/ontology/SNOMEDCT/423493009"; "true"; "SNOMEDCT:423493009"; rdfs:label "age at diagnosis" . a owl:Class; rdfs:subClassOf ; "A temporal measurement related to disease progression"; "Helen Parkinson"; "clinical event"; rdfs:label "clinical temporal measurement" . a owl:Class; rdfs:subClassOf ; "Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease."; "Helen Parkinson"; "true"; "NCIt:C2889", "OBI:OBI_1110054", "OMIM:613551", "OMIM:615952", "OMIM:617006", "SNOMEDCT:85828009", "http://purl.obolibrary.org/obo/OBI_1110054"; rdfs:label "autoimmune disease" . _:6de9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613551"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6dead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615952"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6debd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617006"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , ; "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.", "any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels"; "Dani Welter"; , , , , , , , , ; , , , , ; "true"; "COHD:312723", "DOID:1682", "ICD10:Q24.9", "ICD9:746.84", "ICD9:746.89", "ICD9:746.9", "MESH:D006330", "MONDO:0005453", "NCIT:C95834", "NCIt:C95834", "OMIM:106700", "OMIM:615779", "SCTID:13213009", "SNOMEDCT:13213009", "UMLS:CN169364"; "CHD", "congenital anomaly of heart", "congenital heart defect", "congenital heart defects", "congenital heart disease", "heart defect", "heart malformation"; "Abnormality, heart", "abnormalities, heart", "defect, congenital heart", "defects, congenital heart", "heart Abnormality", "heart abnormalities", "heart defect, congenital", "heart, malformation Of", "heart-congenital defect"; "EFO:0005207"; rdfs:label "congenital heart disease" . _:6df2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale."; "NCIT:P378" . _:6df3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:312723"; "MONDO:equivalentTo" . _:6df4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1682"; "EFO:0005207", "MONDO:equivalentTo" . _:6df5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q24.9"; "DOID:1682" . _:6df6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:746.84"; "MONDO:relatedTo", "i2s" . _:6df7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:746.89"; "MONDO:relatedTo", "i2s" . _:6dfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:746.9"; "DOID:1682", "MONDO:equivalentTo", "i2s" . _:6dfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006330"; "DOID:1682", "MONDO:equivalentTo" . _:6dffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C95834"; "EFO:0005207", "MONDO:equivalentTo" . _:6e03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:106700"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6e05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615779"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6e06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:13213009"; "DOID:1682", "EFO:0005207", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:6e08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN169364"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:6e0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomaly of heart"; "DOID:1682" . _:6e0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital heart defect"; "DOID:1682", "MESH:D006330" . _:6e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital heart defects"; "DOID:1682", "MESH:D006330", "MTH:NOCODE" . _:6e10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital heart disease"; rdfs:comment "preferred label from MONDO" . _:6e12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart defect"; "CSP2005:0724-8315", "DOID:1682" . _:6e14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart malformation"; "DOID:1682", "NCIT:C34666" . _:6e16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormality, heart"; "MESH:D006330" . _:6e18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "abnormalities, heart"; "MESH:D006330" . _:6e1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "defect, congenital heart"; "MESH:D006330" . _:6e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "defects, congenital heart"; "MESH:D006330" . _:6e1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart Abnormality"; "MESH:D006330" . _:6e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart abnormalities"; "MESH:D006330" . _:6e21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart defect, congenital"; "MESH:D006330" . _:6e22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart, malformation Of"; "MESH:D006330" . _:6e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart-congenital defect"; "DOID:1682" . a owl:Class; rdfs:subClassOf , ; "A disease that has its basis in the disruption of heart development.", "any structural anomly of the heart that is present from birth"; "Dani Welter"; ; ; "true"; "ICD10:Q20", "ICD10:Q24", "MONDO:0019512", "OMIM:306955", "OMIM:614980", "Orphanet:88991"; "congenital heart malformation", "disorder of heart development", "heart development disease"; "congenital non-syndromic heart malformation", "disorder of heart development", "rare congenital non-syndromic heart malformation"; "EFO:0005269"; ; rdfs:label "congenital heart malformation" . _:6e2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of heart development."; "MONDO:patterns/basis_in_disruption_of_process" . _:6e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:306955"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6e2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:88991"; "MONDO:equivalentTo" . _:6e30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital heart malformation"; "MONDO:0005472" . _:6e32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital heart malformation"; rdfs:comment "preferred label from MONDO" . _:6e34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of heart development"; "MONDO:patterns/basis_in_disruption_of_process" . _:6e35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart development disease"; "MONDO:design_pattern" . _:6e37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital non-syndromic heart malformation"; "Orphanet:88991" . _:6e38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of heart development"; "MONDO:patterns/basis_in_disruption_of_process" . _:6e57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare congenital non-syndromic heart malformation"; "Orphanet:88991" . _:6e59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:88991" . a owl:Class; rdfs:subClassOf ; "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.", "Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction."; "Dani Welter"; , , , , ; , , , , ; "true"; "COHD:139900", "DOID:1555", "HP:0001025", "ICD10:L50", "ICD9:708", "ICD9:708.8", "ICD9:708.9", "MESH:D014581", "MONDO:0005492", "MSH:D014581", "NCIT:C3432", "NCIt:C3432", "SCTID:126485001", "SNOMEDCT:126485001", "SNOMEDCT:64305001", "UMLS:C0042109"; "hives", "urticaria", "urticaria (disease)"; "Urticarias"; "EFO:0005531"; rdfs:label "urticaria" . _:6e62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress."; "MESH:D014581" . _:6e64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:139900"; "MONDO:equivalentTo" . _:6e66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1555"; "EFO:0005531", "MONDO:equivalentTo" . _:6e6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001025"; "MONDO:otherHierarchy" . _:6e6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L50"; "MONDO:equivalentTo" . _:6e70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:708"; "EFO:0005531" . _:6e72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:708.8"; "DOID:1555", "MONDO:relatedTo", "i2s" . _:6e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:708.9"; "MONDO:equivalentTo", "i2s" . _:6e76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014581"; "EFO:0005531", "MONDO:equivalentTo", "MONDO:ontobio" . _:6e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3432"; "EFO:0005531", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:6e7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126485001"; "EFO:0005531", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:6e7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042109"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3432" . _:6e7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hives"; "MESH:D014581", "NCIT:C3432" . _:6e80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urticaria"; "NCIT:C3432" . _:6e81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urticaria (disease)"; rdfs:comment "preferred label from MONDO" . _:6e83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Urticarias"; "MESH:D014581" . a owl:Class; rdfs:subClassOf , ; "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.", "condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis"; "Dani Welter"; , , ; , , , ; "true"; "COHD:432791", "CSP:2716-7007", "DOID:1558", "HP:0100665", "ICD10:T78.3", "ICD9:995.1", "MESH:D000799", "MONDO:0010481", "MSH:D000799", "NCIt:C112175", "OMIM:300909", "SCTID:400075008", "SNOMEDCT:41291007"; "Edemas, angioneurotic", "Quincke edema", "Quincke's edema", "Quinckes edema", "Urticarias, giant", "angioedema", "angioedemas", "angioneurotic Edemas", "angioneurotic edema", "edema, Quincke's", "edema, angioneurotic", "giant Urticarias", "giant urticaria", "urticaria, giant"; "angioneurotic edema"; "angioneurotic oedema"; "EFO:0005532"; rdfs:label "angioedema" . _:6e8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx."; "MESH:D000799" . _:6e8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:432791"; "MONDO:equivalentTo" . _:6e8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSP:2716-7007"; "DOID:1558" . _:6e8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1558"; "EFO:0005532", "MONDO:equivalentTo" . _:6e91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0100665"; "MONDO:otherHierarchy" . _:6e93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:T78.3"; "DOID:1558" . _:6e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:995.1"; "MONDO:relatedTo", "i2s" . _:6e9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000799"; "DOID:1558", "EFO:0005532", "MONDO:equivalentTo" . _:6e9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300909"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6ea2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:400075008"; "DOID:1558", "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.44/0.08" . _:6ea3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Edemas, angioneurotic"; "MESH:D000799" . _:6ea7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Quincke edema"; "MESH:D000799" . _:6ea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Quincke's edema"; "DOID:1558", "MESH:D000799" . _:6eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Quinckes edema"; "MESH:D000799" . _:6eb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Urticarias, giant"; "MESH:D000799" . _:6eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioedema"; rdfs:comment "preferred label from MONDO" . _:6eb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioedemas"; "MESH:D000799" . _:6eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioneurotic Edemas"; "MESH:D000799" . _:6eb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioneurotic edema"; "MESH:D000799" . _:6ebad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "edema, Quincke's"; "MESH:D000799" . _:6ebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "edema, angioneurotic"; "MESH:D000799" . _:6ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "giant Urticarias"; "MESH:D000799" . _:6ebdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "giant urticaria"; "CSP2005:1849-1576", "DOID:1558", "MESH:D000799" . _:6ec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urticaria, giant"; "MESH:D000799" . _:6ec2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioneurotic edema"; "DOID:1558" . _:6ec3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioneurotic oedema"; "DOID:1558" . a owl:Class; rdfs:subClassOf , ; "A disease involving the adrenal gland.", "An endocrine system disease that is located_in the adrenal gland."; , , ; , , , ; "COHD:193165", "DOID:9553", "ICD10:E27", "ICD10:E27.9", "ICD9:255", "ICD9:255.8", "ICD9:255.9", "MESH:D000307", "MONDO:0005495", "NCIT:C26690", "SCTID:30171000"; "adrenal gland disease", "adrenal gland disease or disorder", "adrenal gland diseases", "adrenal gland disorder", "adrenal gland disorders", "disease of adrenal gland", "disease or disorder of adrenal gland", "disorder of adrenal gland"; "disorder of adrenal gland"; "EFO:0005539"; rdfs:label "adrenal gland disease" . _:6ecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the adrenal gland."; "MONDO:DesignPattern" . _:6eccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:193165"; "MONDO:equivalentTo" . _:6eced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9553"; "EFO:0005539", "MONDO:equivalentTo" . _:6ed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E27.9"; "DOID:9553" . _:6ed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255"; "DOID:9553" . _:6ed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.8"; "MONDO:relatedTo", "i2s" . _:6ed3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.9"; "DOID:9553", "MONDO:equivalentTo", "i2s" . _:6ed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000307"; "DOID:9553", "MONDO:equivalentTo", "MONDO:ontobio" . _:6ed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26690"; "DOID:9553", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:6edcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30171000"; "DOID:9553", "MONDO:equivalentTo" . _:6eded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland disease"; "MONDO:patterns/location", "NCIT:C26690" . _:6edfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland disease"; rdfs:comment "preferred label from MONDO" . _:6ee1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:6ee3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland diseases"; "NCIT:C26690" . _:6ee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland disorder"; "NCIT:C26690" . _:6ee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland disorders"; "NCIT:C26690" . _:6ee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of adrenal gland"; "MONDO:patterns/location_top" . _:6eebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of adrenal gland"; "MONDO:patterns/location_top" . _:6eecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of adrenal gland"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.", "A disease involving the bone development."; , ; "DOID:0080006", "ICD10:Q68", "MONDO:0005497", "SCTID:371521007"; "bone development disease", "bone development disease or disorder", "disease of bone development", "disease or disorder of bone development", "disorder of bone development"; "disorder of bone development"; "EFO:0005541"; rdfs:label "bone development disease" . _:6eedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the bone development."; "MONDO:patterns/location_top" . _:6eeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080006"; "EFO:0005541", "MONDO:equivalentTo" . _:6eefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:371521007"; "MONDO:equivalentTo" . _:6ef1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone development disease"; "MONDO:patterns/location" . _:6ef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone development disease"; rdfs:comment "preferred label from MONDO" . _:6ef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone development disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:6ef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of bone development"; "MONDO:patterns/location_top" . _:6efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bone development"; "MONDO:patterns/location_top" . _:6efed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bone development"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.", "A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain."; "Catherine Leroy"; , , , ; "true"; "DOID:0060108", "GARD:0006513", "MESH:D005910", "NCIT:C3059", "NCIt:C4822", "OMIM:613028", "OMIM:613029", "SCTID:393564001", "UMLS:C0017638"; "GLIOMA, MALIGNANT", "Malignant Glial Neoplasm", "Malignant Glial Tumor", "Malignant Glioma", "Malignant Neuroglial Neoplasm", "Malignant Neuroglial Tumor", "brain glioma", "glial neoplasm", "glial tumor", "glioma", "neoplasm of neuroglia", "neoplasm of the neuroglia", "neuroglial neoplasm", "neuroglial tumor", "tumor of neuroglia", "tumor of the neuroglia"; "EFO:0005543"; rdfs:label "glioma" . _:6f06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas."; "NCIT:C3059" . _:6f08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006513"; "MONDO:equivalentTo" . _:6f0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005910"; "MONDO:equivalentTo" . _:6f0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3059"; "MONDO:equivalentTo" . _:6f10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:393564001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.67/2.17" . _:6f12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017638"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3059" . _:6f13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glial neoplasm"; "NCIT:C3059" . _:6f14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glial tumor"; "NCIT:C3059" . _:6f15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glioma"; "NCIT:C3059" . _:6f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glioma"; rdfs:comment "preferred label from MONDO" . _:6f1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of neuroglia"; "NCIT:C3059" . _:6f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the neuroglia"; "NCIT:C3059" . _:6f1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroglial neoplasm"; "NCIT:C3059" . _:6f21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroglial tumor"; "NCIT:C3059" . _:6f24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of neuroglia"; "NCIT:C3059" . _:6f26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the neuroglia"; "NCIT:C3059" . a owl:Class; rdfs:subClassOf ; "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development."; , ; "DOID:0060037", "ICD9:315.8", "MONDO:0005503", "SCTID:129104009"; "developmental disorder of mental health"; "developmental mental disorder"; "EFO:0005548"; rdfs:label "developmental disorder of mental health" . _:6f28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development."; "EFO:0005548" . _:6f29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060037"; "EFO:0005548", "MONDO:equivalentTo" . _:6f2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:315.8"; "MONDO:relatedTo", "i2s" . _:6f2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:129104009"; "MONDO:equivalentTo" . _:6f31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "developmental disorder of mental health"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria."; "Catherine Leroy"; , ; , , , , ; "COHD:433811", "DOID:11111", "ICD10:N13.30", "ICD9:591", "MESH:D006869", "MONDO:0005510", "MSH:D006869", "NCIT:C26796", "NCIt:C26796", "SCTID:43064006", "SNOMEDCT:43064006", "UMLS:C0020295"; "hydronephrosis"; "EFO:0005562"; rdfs:label "hydronephrosis" . _:6f39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria."; "EFO:0005562" . _:6f3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:433811"; "MONDO:equivalentTo" . _:6f3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11111"; "EFO:0005562", "MONDO:equivalentTo" . _:6f3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N13.30"; "DOID:11111" . _:6f41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:591"; "DOID:11111", "EFO:0005562", "MONDO:equivalentTo", "i2s" . _:6f43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006869"; "DOID:11111", "EFO:0005562", "MONDO:equivalentTo", "MONDO:ontobio" . _:6f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26796"; "DOID:11111", "EFO:0005562", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:6f49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:43064006"; "DOID:11111", "EFO:0005562", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:6f4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020295"; "DOID:11111", "MONDO:equivalentTo", "NCIT:C26796" . _:6f4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydronephrosis"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "An eye disease where one or both eyeballs are abnormally small.", "Congenital or developmental anomaly in which the eyeballs are abnormally small."; "Catherine Leroy"; , , , , , , ; , , , ; "COHD:376512", "DOID:10629", "HP:0000568", "ICD10:Q11.2", "ICD9:743.1", "ICD9:743.10", "ICD9:743.11", "MESH:D008850", "MONDO:0021129", "MSH:D008850", "NCIT:C98989", "NCIt:C98989", "OMIM:614402", "OMIM:615972", "OMIMPS:600165", "SCTID:204108000", "SNOMEDCT:61142002"; "microphthalmia", "microphthalmos", "nanophthalmia", "nanophthalmos", "simple microphthalmos"; "microphthalmos", "nanophthalmia", "nanophthalmos"; "EFO:0005569"; rdfs:label "microphthalmia" . _:6f52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital or developmental anomaly in which the eyeballs are abnormally small."; "MESH:D008850" . _:6f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:376512"; "MONDO:equivalentTo" . _:6f57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10629"; "EFO:0005569", "MONDO:equivalentTo" . _:6f59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000568"; "MONDO:otherHierarchy", "ontobio" . _:6f5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q11.2"; "DOID:10629", "ORDO:35612/e", "ORDO:35612/specific", "Orphanet:35612" . _:6f5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.1"; "DOID:10629", "EFO:0005569" . _:6f60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.10"; "DOID:10629" . _:6f62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.11"; "DOID:10629", "MONDO:equivalentTo", "i2s" . _:6f65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008850"; "DOID:10629", "EFO:0005569", "MONDO:equivalentTo", "MONDO:ontobio" . _:6f67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98989"; "DOID:10629", "EFO:0005569", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:6f6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615972"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:600165"; "MONDO:cjm", "MONDO:equivalentTo" . _:6f70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:204108000"; "DOID:10629", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.77/0.95" . _:6f71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia"; "MONDO:ambiguous" . _:6f72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia"; rdfs:comment "preferred label from MONDO" . _:6f73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nanophthalmia"; "DOID:10629" . _:6f75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nanophthalmos"; "DOID:10629" . _:6f78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "simple microphthalmos"; "DOID:10629" . _:6f7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmos"; "DOID:10629" . _:6f7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nanophthalmia"; "DOID:10629" . _:6f7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nanophthalmos"; "DOID:10629" . a owl:Class; rdfs:subClassOf ; "A bone development disease that results_in defective development of cartilage or bone.", "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."; , , , ; , , , , ; "DOID:2256", "GARD:0006051", "ICD10:Q77", "ICD10:Q78.9", "ICD9:756.4", "MESH:D010009", "MONDO:0005516", "NCIT:C84978", "NCIt:C84978", "OMIM:616897", "SCTID:105985007", "SNOMEDCT:240190009", "UMLS:C0029422"; "Cartilage Development disorder", "Congenital anomaly of cartilage", "chondrodystrophy", "congenital skeletal dysplasia", "osteochondrodysplasia", "osteochondrodysplasia syndrome", "skeletal dysplasia"; "cartilage development disorder", "congenital anomaly of cartilage"; "EFO:0005571"; rdfs:label "osteochondrodysplasia" . _:6f84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."; "NCIT:C84978" . _:6f85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2256"; "EFO:0005571", "MONDO:equivalentTo" . _:6f86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006051"; "MONDO:equivalentTo", "shared-umls-xref" . _:6fc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.9"; "DOID:2256" . _:6fc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.4"; "DOID:2256", "EFO:0005571" . _:6fc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010009"; "DOID:2256", "MONDO:equivalentTo" . _:6fcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84978"; "DOID:2256", "EFO:0005571", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.79/0.06" . _:6fcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616897"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:6fd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:105985007"; "DOID:2256", "MONDO:equivalentTo" . _:6fd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029422"; "DOID:2256", "MONDO:equivalentTo", "NCIT:C84978" . _:6fd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chondrodystrophy"; "DOID:2256" . _:6fdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital skeletal dysplasia"; "NCIT:C84978" . _:6fddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteochondrodysplasia"; "NCIT:C84978" . _:6fdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteochondrodysplasia"; rdfs:comment "preferred label from MONDO" . _:6fe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteochondrodysplasia syndrome"; "DOID:2256" . _:6fe3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal dysplasia"; "NCIT:C84978" . _:6fe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage development disorder"; "DOID:2256", "NCIT:C34466" . _:6fe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomaly of cartilage"; "DOID:2256" . a owl:Class; rdfs:subClassOf ; "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.", "Condition in which an organism is born with primary sex characteristics of one sex but develops the secondary sex characteristics that are different from what would be expected on the basis of the gonadal tissue (ovary ortestis)."; "Catherine Leroy"; , , , , ; , , ; "COHD:73584", "DOID:3765", "ICD10:Q56", "ICD10:Q56.3", "ICD9:752.7", "MONDO:0005518", "NCIT:C124575", "SCTID:75164001", "SNOMEDCT:75164001", "Wikipedia:Pseudohermaphroditism"; "Indeterminate sex and pseudohermaphroditism", "pseudohermaphroditism"; "indeterminate sex and pseudohermaphroditism"; "EFO:0005579"; rdfs:label "pseudohermaphroditism" . _:6fe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex."; "NCIT:C124575" . _:6fe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:73584"; "MONDO:equivalentTo" . _:6fead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3765"; "EFO:0005579", "MONDO:equivalentTo" . _:6fecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56"; "DOID:3765", "MONDO:relatedTo", "MONDO:subClassOf" . _:6feed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56.3"; "DOID:3765", "MONDO:equivalentToOther" . _:6ff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:752.7"; "DOID:3765", "EFO:0005579", "MONDO:subClassOf" . _:6ff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C124575"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:6ff7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75164001"; "DOID:3765", "EFO:0005579", "MONDO:equivalentTo" . _:6ff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Pseudohermaphroditism"; "EFO:0005579" . _:6ffad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohermaphroditism"; rdfs:comment "preferred label from MONDO" . _:6ffcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "indeterminate sex and pseudohermaphroditism"; "DOID:3765" . a owl:Class; rdfs:subClassOf ; "A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone.", "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities."; , , ; , , , , ; "COHD:438719", "DOID:10609", "GARD:0005700", "HP:0002748", "ICD10:E55.0", "ICD9:268.0", "MESH:D012279", "MONDO:0005520", "MSH:D012279", "NCIT:C26878", "NCIt:C26878", "SCTID:41345002", "SNOMEDCT:41345002", "UMLS:C0035579"; "active rickets", "rachitis", "rickets", "rickets (disease)", "vitamin D hydroxylation-deficient rickets", "vitamin D-dependent rickets"; "Vitamin D deficiency disease", "Vitamin-D deficiency rickets", "active rickets", "hypovitaminosis D", "nutritional rickets"; "EFO:0005583"; ; rdfs:label "rickets" . _:7007d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities."; "NCIT:P378" . _:7008d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:438719"; "MONDO:equivalentTo" . _:7009d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10609"; "EFO:0005583", "MONDO:equivalentTo" . _:700ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005700"; "MONDO:equivalentTo" . _:700bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002748"; "MONDO:otherHierarchy", "ontobio" . _:700dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E55.0"; "DOID:10609" . _:700ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:268.0"; "DOID:10609" . _:7014d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012279"; "DOID:10609", "EFO:0005583", "MONDO:equivalentTo", "MONDO:ontobio" . _:7016d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26878"; "DOID:10609", "EFO:0005583", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:701ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:41345002"; "DOID:10609", "EFO:0005583", "MONDO:equivalentTo" . _:701fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035579"; "DOID:10609", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C26878" . _:7022d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rachitis"; "NCIT:C26878" . _:7024d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rickets"; "MONDO:ambiguous" . _:7025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rickets (disease)"; rdfs:comment "preferred label from MONDO" . _:7026d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin D hydroxylation-deficient rickets"; "DOID:10609" . _:7027d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin D-dependent rickets"; "DOID:10609" . _:7029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D deficiency disease"; "GARD:0005700" . _:702bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin-D deficiency rickets"; "GARD:0005700" . _:702dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "active rickets"; "DOID:10609" . _:702ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypovitaminosis D"; "GARD:0005700" . _:7031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nutritional rickets"; "GARD:0005700" . a owl:Class; rdfs:subClassOf ; "A lipid metabolism disorder that involves defects in steroid metabolism.", "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero."; , , ; "DOID:1701", "MESH:D043202", "MONDO:0005523", "UMLS:C1257809"; "steroid inherited metabolic disorder"; "EFO:0005590"; rdfs:label "steroid inherited metabolic disorder" . _:7035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero."; "MESH:D043202" . _:7036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1701"; "EFO:0005590", "MONDO:equivalentTo" . _:7037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D043202"; "DOID:1701", "MONDO:equivalentTo" . _:7038d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1257809"; "DOID:1701", "MONDO:equivalentTo" . _:703ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "steroid inherited metabolic disorder"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process.", "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism."; ; "DOID:0050718", "MONDO:0005528"; "inborn error of vitamin metabolic process", "inborn vitamin metabolic disorder", "inborn vitamin metabolic process disorder", "rare inborn error of vitamin metabolic process"; "rare inborn error of vitamin metabolic process", "vitamin metabolic disorder"; "EFO:0005596"; rdfs:label "vitamin metabolic disorder" . _:7041d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process."; "MONDO:patterns/inborn_metabolic" . _:7043d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050718"; "EFO:0005596", "MONDO:equivalentTo" . _:7045d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of vitamin metabolic process"; "MONDO:patterns/inborn_metabolic" . _:704ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn vitamin metabolic disorder"; rdfs:comment "preferred label from MONDO" . _:704cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of vitamin metabolic process"; "MONDO:patterns/inborn_metabolic" . _:704fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of vitamin metabolic process"; "MONDO:patterns/inborn_metabolic" . _:7050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin metabolic disorder"; "DOID:0050718" . a owl:Class; rdfs:subClassOf , , ; "A malignant neoplasm involving the retina.", "Malignant neoplasm of retina."; , , , ; , , , ; "DOID:4645", "ICD10:C69.2", "ICD9:190.5", "MESH:D019572", "MONDO:0003072", "NCIT:C3216", "NCIt:C3216", "SCTID:363465007", "SNOMEDCT:127002001", "SNOMEDCT_2010_1_31:127002001", "SNOMEDCT_2010_1_31:363465007", "UMLS:C0024622"; "cancer of retina", "malignant neoplasm of retina", "malignant neoplasm of the retina", "malignant retina neoplasm", "malignant retina tumor", "malignant retinal neoplasm", "malignant retinal tumor", "malignant tumor of retina", "malignant tumor of the retina", "neoplasm of retina", "retina cancer", "retinal cancer", "retinal tumor"; "EFO:0005716"; rdfs:label "retinal cancer" . _:705ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the retina."; "MONDO:DesignPattern" . _:705bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4645"; "MONDO:equivalentTo" . _:705dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C69.2"; "DOID:4645" . _:705fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:190.5"; "DOID:4645", "MONDO:equivalentTo", "i2s" . _:7061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019572"; "DOID:4645", "MONDO:equivalentTo", "MONDO:ontobio" . _:7062d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3216"; "DOID:4645", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.77/0.29" . _:7063d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363465007"; "DOID:4645", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.10" . _:7064d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of retina"; "MONDO:patterns/cancer" . _:7065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of retina"; "DOID:4645", "MONDO:patterns/cancer", "NCIT:C3216" . _:7070d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the retina"; "NCIT:C3216" . _:7072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant retina neoplasm"; "MONDO:patterns/cancer", "NCIT:C3216" . _:7075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant retina tumor"; "NCIT:C3216" . _:7077d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant retinal neoplasm"; "DOID:4645", "NCIT:C3216" . _:707ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant retinal tumor"; "NCIT:C3216" . _:707bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of retina"; "NCIT:C3216" . _:707cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the retina"; "NCIT:C3216" . _:707ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of retina"; "DOID:4645" . _:7081d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retina cancer"; "MONDO:patterns/location" . _:7083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal cancer"; rdfs:comment "preferred label from MONDO" . _:7085d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal tumor"; "DOID:4645", "NCIT:C4800" . a owl:Class; rdfs:subClassOf ; "A disease whose physical basis is an infectious agent", "A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact."; "Helen Parkinson"; , ; , , , ; "DOID:0050117", "ICD10:A00.B99", "ICD10:Z22", "ICD9:079.0", "ICD9:136.8", "ICD9:136.9", "IDO:0000436", "IDO:IDO_0000436", "MESH:D003141", "MONDO:0005550", "NCIT:C26726", "SCTID:40733004", "SNOMEDCT:40733004"; "ID", "clinical infection", "disease by infectious agent", "disorder due to infection", "infection", "infectious", "infectious disease", "infectious diseases and manifestations", "infectious disorder", "transmissible disease"; "disease by infectious agent"; "EFO:0005741"; rdfs:comment "Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself."; rdfs:label "infectious disease" . _:7090d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact."; "NCIT:C26726" . _:7092d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050117"; "EFO:0005741", "MONDO:equivalentTo" . _:7093d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:A00.B99"; "MONDO:superClassOf", "some infections are in other chapters" . _:7095d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:079.0"; "DOID:0050117" . _:7096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:136.8"; "MONDO:relatedTo", "i2s" . _:7097d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:136.9"; "MONDO:relatedTo", "i2s" . _:709ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDO:0000436"; "EFO:0005741" . _:709cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003141"; "MONDO:equivalentTo", "MONDO:ontobio" . _:709dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26726"; "MONDO:equivalentTo" . _:70a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:40733004"; "EFO:0005741", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.81/0.38" . _:70a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ID"; "NCIT:C26726"; . _:70a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "clinical infection"; "NCIT:C26726" . _:70a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infection"; "NCIT:C26726" . _:70a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infectious"; "NCIT:C26726" . _:70a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infectious disease"; "DOID:0050117", "NCIT:C26726" . _:70a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infectious disease"; rdfs:comment "preferred label from MONDO" . _:70abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infectious diseases and manifestations"; "NCIT:C26726" . _:70add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infectious disorder"; "NCIT:C26726" . _:70afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease by infectious agent"; "DOID:0050117" . _:70b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself."; "EFO:0005741" . a owl:Class; rdfs:subClassOf , ; "A disorder that is caused by pathologic changes in the ocular vasculature.", "a disease that occurs in the vasculature of the eye"; "Sirarat Sarntivijai"; ; "MONDO:0005552", "NCIT:C35664", "NCIt:C35664"; "disease of vasculature of eye", "disease or disorder of vasculature of eye", "disorder of the ocular vasculature", "disorder of vasculature of eye", "ocular vascular disease", "ocular vascular disorder", "vasculature of eye disease", "vasculature of eye disease or disorder"; "disorder of vasculature of eye"; "EFO:0005753"; rdfs:label "ocular vascular disease" . _:70b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder that is caused by pathologic changes in the ocular vasculature."; "NCIT:P378" . _:70b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35664"; "EFO:0005753", "MONDO:equivalentTo" . _:70b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of vasculature of eye"; "MONDO:patterns/location_top" . _:70bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vasculature of eye"; "MONDO:patterns/location_top" . _:70c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular vascular disease"; rdfs:comment "preferred label from MONDO" . _:70c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular vascular disorder"; "NCIT:C35664" . _:70c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vasculature of eye disease"; "MONDO:patterns/location" . _:70c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vasculature of eye disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:70c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vasculature of eye"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A disease involving the parathyroid gland.", "a disease that occurs in the parathyroid"; "Sirarat Sarntivijai"; , ; , , , , ; "COHD:138713", "DOID:11201", "ICD10:E21.5", "ICD9:252", "ICD9:252.8", "ICD9:252.9", "MESH:D010279", "MONDO:0001223", "NCIT:C26844", "SCTID:73132005", "UMLS:C0030517"; "disease of parathyroid gland", "disease of parathyroid glands", "disease or disorder of parathyroid gland", "disorder of parathyroid gland", "parathyroid disease", "parathyroid disorder", "parathyroid gland disease", "parathyroid gland disease or disorder", "parathyroid gland diseases", "parathyroid gland disorder", "parathyroid gland disorders"; "disorder of parathyroid gland"; "EFO:0005754"; rdfs:label "parathyroid disease" . _:70cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the parathyroid gland."; "MONDO:DesignPattern" . _:70ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:138713"; "MONDO:equivalentTo" . _:70cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11201"; "MONDO:equivalentTo" . _:70d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E21.5"; "DOID:11201" . _:70d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:252"; "DOID:11201" . _:70d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:252.8"; "MONDO:relatedTo", "i2s" . _:70d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:252.9"; "DOID:11201", "MONDO:equivalentTo", "i2s" . _:70d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010279"; "DOID:11201", "MONDO:equivalentTo", "MONDO:ontobio" . _:70dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26844"; "DOID:11201", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:70ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:73132005"; "DOID:11201", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.27" . _:70e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030517"; "DOID:11201", "MONDO:equivalentTo", "NCIT:C26844" . _:70e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of parathyroid gland"; "MONDO:patterns/location_top" . _:70e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of parathyroid glands"; "DOID:11201" . _:70e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of parathyroid gland"; "MONDO:patterns/location_top" . _:70e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid disease"; "MONDO:0005553" . _:70e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland disease"; "MONDO:patterns/location", "NCIT:C26844" . _:70e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland disease"; rdfs:comment "preferred label from MONDO" . _:70e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:70e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland diseases"; "NCIT:C26844" . _:70ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland disorder"; "NCIT:C26844" . _:70ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid gland disorders"; "NCIT:C26844" . _:70eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of parathyroid gland"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.", "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis."; "Rheumatism or rheumatic disorder is a non-specific term for medical problems affecting the joints and/or connective tissue.", "Sirarat Sarntivijai"; , , , , ; , , ; "DOID:1575", "ICD9:729.0", "MESH:D012216", "MONDO:0005554", "NCIT:C27204", "SCTID:396332003", "SNOMEDCT:396332003", "UMLS:C0035435", "Wikipedia:Rheumatism"; "rheumatic disorder", "rheumatism", "rheumatologic disorder"; "collagen disease", "collagen vascular disease", "connective tissue disease", "disease, rheumatic", "diseases, rheumatic", "enthesopathies", "enthesopathy", "inflammatory rheumatism", "musculoskeletal pain disorder", "rheumatic disease", "rheumatism"; "EFO:0005755"; rdfs:comment "This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue"; rdfs:label "rheumatic disease" . _:7122d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis."; "NCIT:C27204" . _:7124d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:1575" . _:7127d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MESH:D012216", "linkedlifedata" . _:7129d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDO:Redundant", "NCIT:C27204" . _:712bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1575"; "EFO:0005755", "MONDO:equivalentTo" . _:712cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:729.0"; "MONDO:relatedTo", "i2s" . _:712dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012216"; "MONDO:equivalentTo" . _:712ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27204"; "MONDO:equivalentTo", "kboom:pr0.75-conf4.32" . _:712fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:396332003"; "EFO:0005755", "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.39/0.39" . _:7136d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035435"; "MONDO:equivalentTo", "NCIT:C27204" . _:7137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Rheumatism"; "EFO:0005755" . _:7139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rheumatologic disorder"; "NCIT:C27204" . _:713bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rheumatologic disorder"; rdfs:comment "preferred label from MONDO" . _:713ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "collagen disease"; "NCIT:C27204" . _:7140d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "collagen vascular disease"; "NCIT:C27204" . _:7142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue disease"; "NCIT:C27204" . _:7143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, rheumatic"; "MESH:D012216" . _:7145d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, rheumatic"; "MESH:D012216" . _:7146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "enthesopathies"; "MESH:D012216" . _:7147d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "enthesopathy"; "MESH:D012216" . _:7149d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory rheumatism"; "NCIT:C27204" . _:714ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal pain disorder"; "NCIT:C27204" . _:714cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rheumatic disease"; "MESH:D012216", "NCIT:C27204" . _:714ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rheumatism"; "MESH:D012216", "NCIT:C27204" . a owl:Class; rdfs:subClassOf ; "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.", "Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels."; "Helen Parkinson"; , , ; , , , ; "DOID:10575", "http://en.wikipedia.org/wiki/Disorders_of_calcium_metabolism"; "DOID:10575", "ICD10:E83.5", "ICD10:E83.50", "ICD9:275.4", "ICD9:275.40", "ICD9:275.49", "ICD9CM:275.4", "ICD9CM:275.40", "MESH:D002128", "MONDO:0005557", "MSH:D002128", "SCTID:71638002", "SCTID_2010_1_31:190863003", "SCTID_2010_1_31:190874007", "SCTID_2010_1_31:267442002", "SCTID_2010_1_31:71638002", "SNOMEDCT_2010_1_31:190863003", "SNOMEDCT_2010_1_31:190874007", "SNOMEDCT_2010_1_31:267442002", "SNOMEDCT_2010_1_31:71638002", "UMLS:C0006705"; "Calcium Metabolism Disorders", "calcium metabolic disease", "calcium metabolic disorder", "calcium metabolism disease", "calcium metabolism disorder", "disorder of calcium metabolism"; "calcium metabolism disease", "calcium metabolism disorder"; "EFO:0005769"; rdfs:comment "Consider relocating this as a sibling of metabolic disease. ", "Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh", "Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease."; rdfs:label "calcium metabolic disease" . _:7158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization."; "MESH:D002128" . _:7159d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10575"; "EFO:0005769", "MONDO:equivalentTo", "refers to acquired form" . _:715ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.5"; "DOID:10575" . _:715bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.50"; "DOID:10575" . _:715cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.4"; "DOID:10575", "EFO:0005769", "MONDO:equivalentTo", "i2s" . _:715fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.40"; "DOID:10575", "EFO:0005769", "MONDO:equivalentTo", "i2s" . _:7161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.49"; "MONDO:relatedTo", "i2s" . _:7162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002128"; "DOID:10575", "EFO:0005769", "MONDO:equivalentTo" . _:7164d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:71638002"; "DOID:10575", "MONDO:equivalentTo" . _:7166d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID_2010_1_31:190863003"; "EFO:0005769" . _:7168d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID_2010_1_31:190874007"; "EFO:0005769" . _:7169d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID_2010_1_31:267442002"; "EFO:0005769" . _:716cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID_2010_1_31:71638002"; "EFO:0005769" . _:716ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006705"; "DOID:10575", "EFO:0005769", "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:7172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "calcium metabolic disease"; rdfs:comment "preferred label from MONDO" . _:7174d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "calcium metabolism disease"; "DOID:10575" . _:7175d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease."; "EFO:0005769" . a owl:Class; rdfs:subClassOf , ; "A disease involving the ovary.", "A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors."; "Catherine Leroy", "Helen Parkinson"; , , , , ; "DOID:1100", "MESH:D010049", "MONDO:0005558", "NCIT:C26841", "NCIt:C26841", "SCTID:5552004", "UMLS:C0029928"; "Ovarian Disorder", "disease of ovary", "disease or disorder of ovary", "disease ovarian", "disorder of ovary", "ovarian disease", "ovarian disorder", "ovary disease", "ovary disease or disorder"; "disorder of ovary"; "EFO:0005771"; rdfs:label "ovarian disease" . _:717cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the ovary."; "MONDO:DesignPattern" . _:7180d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1100"; "EFO:0005771", "MONDO:equivalentTo" . _:7185d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010049"; "DOID:1100", "MONDO:equivalentTo", "MONDO:ontobio" . _:7188d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26841"; "DOID:1100", "EFO:0005771", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:718fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:5552004"; "DOID:1100", "MONDO:equivalentTo" . _:7191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029928"; "DOID:1100", "MONDO:equivalentTo", "NCIT:C26841" . _:7193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of ovary"; "MONDO:patterns/location_top" . _:7194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ovary"; "MONDO:patterns/location_top" . _:7195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian disease"; "NCIT:C26841" . _:7197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian disease"; rdfs:comment "preferred label from MONDO" . _:7199d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian disorder"; "NCIT:C26841" . _:719ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary disease"; "MONDO:patterns/location" . _:719bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovary disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:719dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ovary"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function."; , ; , , , ; "Helen Parkinson"; "NCIT"; "degenerative disease"; "DOID:1289", "ICD10:G31.9", "ICD9:349.89", "MESH:D019636", "MONDO:0005559", "MSH:D019636", "NCIT:C4802", "NCIt:C4802", "SCTID:80690008", "SNOMEDCT_2010_1_31:362975008", "UMLS:C0524851", "UMLS:C1285162"; "Neurodegenerative Diseases", "brain degeneration", "central nervous system degenerative disorder", "central nervous system neurodegenerative disorder", "degenerative disorder of central nervous system", "neurodegenerative disease"; "cerebral degeneration disease"; "EFO:0005772"; ; rdfs:comment "Editor notes: DO treats this as two diseases", "Note this is a more general definition than the DO, which defines in terms of neuronal death."; rdfs:label "neurodegenerative disease" . _:71a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function."; "NCIT:C4802" . _:71a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "degenerative disease"; "DOID:1289" . _:71a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1289"; "EFO:0005772", "MONDO:equivalentTo" . _:71a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G31.9"; "DOID:1289" . _:71b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:349.89"; "MONDO:relatedTo", "i2s" . _:71b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019636"; "DOID:1289", "EFO:0005772", "MONDO:equivalentTo", "MONDO:ontobio" . _:71b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4802"; "EFO:0005772", "MONDO:equivalentTo" . _:71b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:80690008"; "MONDO:equivalentTo" . _:71b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain degeneration"; "DOID:1443" . _:71b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system degenerative disorder"; "MONDO:patterns/location", "NCIT:C4802" . _:71b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system neurodegenerative disorder"; "NCIT:C4802" . _:71bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "degenerative disorder of central nervous system"; "MONDO:design_pattern" . _:71bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurodegenerative disease"; "DOID:1289", "NCIT:C4802" . _:71c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurodegenerative disease"; rdfs:comment "preferred label from MONDO" . _:71c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral degeneration disease"; "MONDO:0001963" . a owl:Class; rdfs:subClassOf ; "A disease affecting the brain or part of the brain."; "James Malone"; , , , , ; , , , , , ; "DOID:936", "ICD10:G93", "ICD10:G93.40", "ICD10:G93.9", "ICD9:348.3", "ICD9:348.30", "ICD9:348.8", "ICD9:348.9", "MESH:D001927", "MONDO:0005560", "NCIT:C96413", "SCTID:81308009", "UMLS:C0006111", "UMLS:C0085584"; "brain disease", "brain disease or disorder", "disease of brain", "disease or disorder of brain", "disorder of brain"; "encephalopathy"; "disorder of brain"; "EFO:0005774"; rdfs:comment "Editor note: NCIT has different classes for brain disease and encephalopathy"; rdfs:label "brain disease" . _:71c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease affecting the brain or part of the brain."; "EFO:0005774" . _:71cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:936"; "EFO:0005774", "MONDO:equivalentTo" . _:71cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G93.40"; "DOID:936" . _:71d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G93.9"; "DOID:936" . _:71d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:348.3"; "DOID:936", "MONDO:equivalentTo", "i2s" . _:71dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:348.30"; "DOID:936", "MONDO:equivalentTo", "i2s" . _:71ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:348.8"; "MONDO:relatedTo", "i2s" . _:71dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:348.9"; "DOID:936", "MONDO:equivalentTo", "i2s" . _:71e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001927"; "DOID:936", "MONDO:equivalentTo", "MONDO:ontobio" . _:71e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C96413"; "DOID:936", "MONDO:equivalentTo" . _:71e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:81308009"; "DOID:936", "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.05" . _:71ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006111"; "DOID:936", "MEDGEN:kboom-pr99-c99", "MONDO:equivalentTo" . _:71eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085584"; "DOID:936", "MEDGEN:kboom-pr99-c99", "MONDO:equivalentTo", "NCIT:C26920" . _:71f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain disease"; "MONDO:patterns/location" . _:71f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain disease"; rdfs:comment "preferred label from MONDO" . _:71f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:71fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of brain"; "MONDO:patterns/location_top" . _:71fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of brain"; "MONDO:patterns/location_top" . _:71fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephalopathy"; "DOID:936", "NCIT:C26920" . _:71ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of brain"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; " mass of rapidly growing cells that begins in embryonic (fetal) tissue. Embryonal tumors may be benign or malignant, and include neuroblastomas and Wilms tumors", "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003"; , , ; "DOID:688", "MONDO:0005564", "NCIT:C3264", "NCIt:C3264", "ONCOTREE:EMBT", "UMLS:C0027654"; "embryo neoplasm", "embryonal neoplasm", "embryonal tumor", "embryonal tumour"; "EMBT", "embryonal cancer"; "EFO:0005784"; rdfs:label "embryonal neoplasm" . _:7202d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003"; "NCIT:C3264" . _:7204d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:688"; "MONDO:equivalentTo" . _:7205d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3264"; "EFO:0005784", "MONDO:equivalentTo", "exact-label-match" . _:7208d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:EMBT"; "MONDO:equivalentTo" . _:7209d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027654"; "DOID:688", "MONDO:equivalentTo", "NCIT:C3264" . _:720ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "embryo neoplasm"; "DOID:688" . _:720bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "embryonal neoplasm"; "NCIT:C3264" . _:720cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "embryonal neoplasm"; rdfs:comment "preferred label from MONDO" . _:720dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "embryonal tumor"; "NCIT:C3264" . _:720fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMBT"; "ONCOTREE:EMBT" . _:7211d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "embryonal cancer"; "DOID:688" . a owl:Class; rdfs:subClassOf , ; "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)."; "Catherine Leroy"; , , , , , , ; , , , ; "DOID:1222"; "COHD:4178431", "DOID:1222", "ICD10:M91-M94", "ICD10:M94", "ICD10:M94.9", "ICD9:733.99", "MESH:D002357", "MONDO:0005569", "MSH:D002357", "SCTID:50927007", "SNOMEDCT:50927007", "UMLS:C0007302"; "Cartilage Diseases", "Cartilage disorder", "Chondropathy", "Chondropathy (disorder)", "cartilage disease", "cartilage disorder", "cartilage tissue disease", "cartilage tissue disease or disorder", "disease of cartilage tissue", "disease or disorder of cartilage tissue", "disorder of cartilage tissue"; "disorder of cartilage tissue"; "EFO:0005802"; rdfs:comment "Editor note: DO places this under articular cartilage disease"; rdfs:label "cartilage disease" . _:721cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)."; "EFO:0005802" . _:721fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4178431"; "MONDO:equivalentTo" . _:7220d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1222"; "EFO:0005802", "MONDO:equivalentTo" . _:7221d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M91-M94"; "DOID:1222" . _:7222d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M94.9"; "DOID:1222" . _:7223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.99"; "MONDO:relatedTo", "i2s" . _:7225d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002357"; "DOID:1222", "EFO:0005802", "MONDO:equivalentTo" . _:7228d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:50927007"; "DOID:1222", "EFO:0005802", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:722bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007302"; "DOID:1222", "MONDO:equivalentTo" . _:722dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chondropathy"; "DOID:1222" . _:722fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage disease"; rdfs:comment "preferred label from MONDO" . _:7230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage disorder"; "DOID:1222" . _:7233d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage tissue disease"; "MONDO:patterns/location" . _:7237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage tissue disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7238d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of cartilage tissue"; "MONDO:patterns/location_top" . _:7239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cartilage tissue"; "MONDO:patterns/location_top" . _:723ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cartilage tissue"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the hematopoietic system.", "Disorders of the blood and blood forming tissues."; "Sirarat Sarntivijai"; , , , , , , , ; , , , , , ; "DOID:74", "GTR:AN1320635", "ICD10:D75", "ICD10:D75.9", "ICD9:280-289.99", "ICD9:289.8", "ICD9:289.9", "MESH:D006402", "MONDO:0005570", "MSH:D006402", "NCIT:C26323", "SCTID:414022008", "UMLS:C0018939", "UMLS:CN882913"; "Hematologic Diseases", "blood disease", "blood disorder", "blood dyscrasia", "disease of hematopoietic system", "disease of the blood and blood-forming organs", "disease or disorder of hematopoietic system", "disorder of hematopoietic system", "haematological system disease", "haematological system disorder", "hematologic and lymphocytic disorder", "hematologic disease", "hematologic disorder", "hematological disease", "hematological disorder", "hematological system disease", "hematological system disorder", "hematopoietic disease", "hematopoietic system disease", "hematopoietic system disease or disorder"; "blood dyscrasia NOS", "disorder of hematopoietic system", "hematological disorders and malignancies"; "EFO:0005803"; rdfs:comment "placeholder for lymphoid disease"; rdfs:label "hematologic disease" . _:724ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the hematopoietic system."; "MONDO:DesignPattern" . _:724fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:74"; "EFO:0005803", "MONDO:equivalentTo" . _:7252d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN1320635"; "UMLS:CN882913" . _:7253d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D75.9"; "DOID:74" . _:7255d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:280-289.99"; "DOID:74" . _:7256d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:289.8"; "MONDO:relatedTo", "i2s" . _:7258d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:289.9"; "DOID:74", "MONDO:relatedTo", "i2s" . _:725ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006402"; "DOID:74", "EFO:0005803", "MONDO:equivalentTo", "MONDO:ontobio" . _:725dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26323"; "DOID:74", "MONDO:equivalentTo" . _:7271d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:414022008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/5.89" . _:7274d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018939"; "DOID:74", "MONDO:equivalentTo", "NCIT:C26323" . _:7277d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN882913"; "MONDO:equivalentTo" . _:7278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood disease"; "DOID:74" . _:7279d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood disorder"; "CSP2005:0427-3600", "DOID:74", "NCIT:C26323" . _:727cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood dyscrasia"; "DOID:74" . _:727ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of hematopoietic system"; "DOID:74", "MONDO:patterns/location_top" . _:727fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of the blood and blood-forming organs"; "DOID:74", "ICD9CM_2006:280-289.99" . _:7282d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of hematopoietic system"; "MONDO:patterns/location_top" . _:728ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematologic and lymphocytic disorder"; "NCIT:C26323" . _:728bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematologic disease"; rdfs:comment "preferred label from MONDO" . _:728dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematologic disorder"; "NCIT:C26323" . _:728fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematological disease"; "DOID:74", "MTH:NOCODE" . _:7290d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematological disorder"; "MONDO:cjm", "NCIT:C26323" . _:7291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematological system disease"; "https://orcid.org/0000-0002-0736-9199" . _:7292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic disease"; "DOID:74" . _:7294d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic system disease"; "MONDO:patterns/location" . _:7296d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematopoietic system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:729bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood dyscrasia NOS"; "DOID:74", "MTHICD9_2006:289.9"; . _:729cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of hematopoietic system"; "MONDO:patterns/location_top" . _:729dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematological disorders and malignancies"; "GTR:AN1320635" . _:729ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "placeholder for lymphoid disease"; "EFO:0005803" . a owl:Class; rdfs:subClassOf ; "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).", "Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease."; , , , , , ; "COHD:434621", "DOID:417", "EFO:0005140", "ICD9:279.4", "ICD9:279.49", "ICD9:720", "MESH:D001327", "NCIT:C2889", "OBI:1110054", "OMIM:109100", "SCTID:85828009", "UMLS:C0004364"; "autoimmune disease", "autoimmune disease or disorder", "autoimmune disorder", "disease, autoimmune"; "autoimmune hypersensitivity disease", "hypersensitivity reaction type II disease"; "EFO:0005809"; rdfs:comment "Editor note: check OMIM"; rdfs:label "type II hypersensitivity reaction disease" . _:72a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)."; "NCIT:C2889" . _:72a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434621"; "MONDO:equivalentTo" . _:72a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:417"; "MONDO:equivalentTo" . _:72a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0005140"; "MONDO:equivalentTo" . _:72a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.4"; "MONDO:relatedTo", "i2s" . _:72acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.49"; "MONDO:relatedTo", "i2s" . _:72aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:720"; "DOID:417" . _:72b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001327"; "MONDO:equivalentTo", "MONDO:ontobio" . _:72b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2889"; "EFO:0005140", "MONDO:equivalentTo" . _:72b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OBI:1110054"; "EFO:0005140", "MONDO:equivalentTo" . _:72b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:109100"; "DOID:417", "MONDO:equivalentTo" . _:72b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:85828009"; "EFO:0005140", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:72bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004364"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C2889", "OMIM:109100" . _:72bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease"; "EFO:0005140", "NCIT:C2889", "OMIM:109100" . _:72c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease"; rdfs:comment "preferred label from MONDO" . _:72c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disorder"; "NCIT:C2889" . _:72c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, autoimmune"; "NCIT:C2889" . _:72c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune hypersensitivity disease"; "DOID:417" . _:72c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypersensitivity reaction type II disease"; "DOID:417" . a owl:Class; rdfs:subClassOf ; "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.", "Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain."; , , ; "DOID:680", "DOID_680", "http://europepmc.org/abstract/MED/25495175"; "DOID:680", "MESH:D024801", "MONDO:0005574", "UMLS:C0949664"; "tauopathy"; "EFO:0005815"; rdfs:label "tauopathy" . _:72c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration."; "MESH:D024801" . _:72c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:680"; "EFO:0005815", "MONDO:equivalentTo" . _:72cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D024801"; "DOID:680", "MONDO:equivalentTo", "MONDO:ontobio" . _:72d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0949664"; "DOID:680", "MONDO:equivalentTo" . _:72d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tauopathy"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency."; "Catherine Leroy"; "ICD10:E56", "MSH:D001361", "NCIt:C34406", "NCIt:C35772", "SNOMEDCT:85670002"; "Avitaminosis", "Hypovitaminosis", "Vitamin Deficiency Disorder", "Vitamin deficiency (disorder)"; rdfs:label "vitamin deficiency" . a owl:Class; rdfs:subClassOf ; "A chronic condition characterised by recurrent generalised seizures.", "An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain"; "Dani Welter"; , , , , ; , , , ; "true"; "DOID:1827", "MESH:D004829", "MONDO:0005579", "NCIT:C3021", "OMIM:612899", "OMIM:614847", "OMIM:616685", "SCTID:19598007"; "Generalized epilepsy", "generalised epilepsy", "idiopathic generalized epilepsy"; "idiopathic generalized epilepsy"; "EFO:0005917"; rdfs:label "generalised epilepsy" . _:72dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A chronic condition characterised by recurrent generalised seizures."; "NCIT:P378" . _:72e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1827"; "EFO:0005917", "MONDO:equivalentTo" . _:72e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004829"; "DOID:1827", "MONDO:equivalentTo" . _:72e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3021"; "DOID:1827", "MONDO:equivalentTo" . _:72ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612899"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:72ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614847"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:72eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:19598007"; "DOID:1827", "MONDO:equivalentTo" . _:72efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Generalized epilepsy"; "NCIT:C3021" . _:72f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalised epilepsy"; "DOID:1827" . _:72f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalised epilepsy"; rdfs:comment "preferred label from MONDO" . _:72f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic generalized epilepsy"; "DOID:1827" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."; , ; , , ; "NCIt"; "ICD9:239.89", "MONDO:0005586", "NCIT:C3077", "NCIt:C3077", "ONCOTREE:HEADNECK", "SCTID:255055008", "SNOMEDCT:255055008", "UMLS:C0018671"; "Head and Neck Neoplasm", "Head and Neck Neoplasm (Excluding Central Nervous System)", "Head and Neck Tumor", "Neoplasm of Head and Neck", "Neoplasm of the Head and Neck", "Tumor of Head and Neck", "Tumor of the Head and Neck", "craniocervical region neoplasm", "craniocervical region neoplasm (disease)", "craniocervical region tumor", "head and neck neoplasm", "head and neck neoplasm (excluding central nervous system)", "head and neck tumor", "neoplasm of craniocervical region", "neoplasm of head and neck", "neoplasm of the head and neck", "tumor of craniocervical region", "tumor of head and neck", "tumor of the head and neck"; "EFO:0005950"; rdfs:label "head and neck neoplasia" . _:7300d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."; "NCIT:C3077" . _:7301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.89"; "MONDO:relatedTo", "i2s" . _:7302d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3077"; "EFO:0005950", "MONDO:equivalentTo" . _:7303d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:HEADNECK"; "MONDO:equivalentTo" . _:7304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:255055008"; "EFO:0005950", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.75/0.46" . _:7305d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018671"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3077" . _:7306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniocervical region neoplasm (disease)"; "MONDO:patterns/location" . _:7307d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniocervical region tumor"; "MONDO:patterns/neoplasm" . _:7308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck neoplasm"; "NCIT:C3077" . _:7309d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck neoplasm"; rdfs:comment "preferred label from MONDO" . _:730ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck neoplasm (excluding central nervous system)"; "NCIT:C3077" . _:7310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck tumor"; "NCIT:C3077" . _:7312d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of craniocervical region"; "MONDO:patterns/neoplasm" . _:7314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of head and neck"; "NCIT:C3077" . _:7316d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the head and neck"; "NCIT:C3077" . _:7318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of craniocervical region"; "MONDO:patterns/neoplasm" . _:731ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of head and neck"; "NCIT:C3077" . _:731cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the head and neck"; "NCIT:C3077" . a owl:Class; rdfs:subClassOf ; "The distance from the sole to the crown of the head of a newborn right after birth"; "Dani Welter"; "true"; "SNOMEDCT:169886007"; "birth length"; rdfs:label "body height at birth" . a owl:Class; rdfs:subClassOf , , ; "A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. ", "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease, see this term) to relatively minor skin disease."; "Sirarat Sarntivijai"; , , ; , , , , , , , , , ; "DOID:865", "GARD:0009565", "ICD10:M31", "MESH:D014657", "MONDO:0018882", "MSH:D014657", "MedDRA:10036023", "MedDRA:10047115", "NCIT:C26912", "NCIt:C26912", "OMIM:615688", "Orphanet:52759", "SCTID:31996006", "SNOMEDCT:31996006", "UMLS:C0042384", "Wikipedia:Vasculitis"; "vasculitis"; "systemic vasculitis"; "angiitis"; "EFO:0006803"; ; rdfs:comment "see infosheet: http://www.vasculitis.org.uk/content/downloads/understanding-vasculitis-factsheet-june-2014.pdf "; rdfs:label "vasculitis" . _:732cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease, see this term) to relatively minor skin disease."; "Orphanet:52759" . _:732dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:865"; "EFO:0006803", "MONDO:equivalentTo" . _:732ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009565"; "MONDO:equivalentTo" . _:732fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014657"; "DOID:865", "EFO:0006803", "MONDO:equivalentTo", "ORDO:52759/e", "Orphanet:52759" . _:7330d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036023"; "ORDO:52759/e", "Orphanet:52759" . _:7331d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047115"; "ORDO:52759/e", "Orphanet:52759" . _:7332d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26912"; "DOID:865", "EFO:0006803", "MONDO:equivalentTo", "exact-label-match" . _:7333d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615688"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7335d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:52759"; "MONDO:equivalentTo" . _:7337d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:31996006"; "DOID:865", "EFO:0006803", "MONDO:equivalentTo" . _:733cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042384"; "DOID:865", "MONDO:equivalentTo", "NCIT:C26912", "ORDO:52759/e", "Orphanet:52759" . _:7340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Vasculitis"; "EFO:0006803" . _:7342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vasculitis"; rdfs:comment "preferred label from MONDO" . _:7344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "systemic vasculitis"; "Orphanet:52759" . _:7346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angiitis"; "DOID:865" . _:7348d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:52759" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.", "benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas"; , ; , ; "MESH:D009375", "MONDO:0005626", "NCIT:C3709", "NCIt:C3709", "SNOMEDCT:118285006"; "epithelial neoplasm", "epithelioma"; "epithelial neoplasms, NOS"; "EFO:0006858"; rdfs:label "epithelial neoplasm" . _:734bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas."; "NCIT:C3709" . _:7358d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:735bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009375"; "MONDO:equivalentTo", "MONDO:ontobio" . _:735dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3709"; "EFO:0006858", "MONDO:equivalentTo" . _:735fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C3709"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7361d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial neoplasm"; "NCIT:C3709" . _:7363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial neoplasm"; rdfs:comment "preferred label from MONDO" . _:7365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelioma"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelioma"; "NCIT:C3709" . _:736dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial neoplasms, NOS"; "NCIT:C3709"; . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."; , ; , , ; "true"; "DOID:11934", "MONDO:0005627", "NCIT:C4013", "NCIt:C4013", "SNOMEDCT:255056009", "UMLS:C0278996"; "Cancer of Head and Neck", "Cancer of the Head and Neck", "Head and Neck Cancer", "Head and neck cancer, NOS", "Malignant Head and Neck Neoplasm", "Malignant Head and Neck Tumor", "Malignant Neoplasm of Head and Neck", "Malignant Neoplasm of the Head and Neck", "Malignant Tumor of Head and Neck", "Malignant Tumor of the Head and Neck", "cancer of craniocervical region", "cancer of head and neck", "cancer of the head and neck", "craniocervical region cancer", "head and neck cancer", "head and neck malignant neoplasia", "head and neck neoplasm", "head and neck tumours", "head/neck neoplasm", "malignant craniocervical region neoplasm", "malignant head and neck neoplasm", "malignant head and neck tumor", "malignant neoplasm of craniocervical region", "malignant neoplasm of head and neck", "malignant neoplasm of the head and neck", "malignant tumor of head and neck", "malignant tumor of the head and neck", "tumor of head and neck"; "head and neck cancer, NOS"; "EFO:0006859"; rdfs:label "head and neck malignant neoplasia" . _:7372d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."; "NCIT:C4013" . _:7376d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11934"; "EFO:0006859", "MONDO:equivalentTo" . _:7378d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4013"; "EFO:0006859", "MONDO:equivalentTo" . _:7379d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C4013"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:737ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0278996"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C4013" . _:737bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cancer of Head and Neck"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:737cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cancer of the Head and Neck"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:737dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Head and Neck Cancer"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:737ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Head and neck cancer, NOS"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7381d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Malignant Head and Neck Tumor"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Malignant Neoplasm of Head and Neck"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Malignant Neoplasm of the Head and Neck"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7384d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Malignant Tumor of Head and Neck"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7385d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Malignant Tumor of the Head and Neck"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7386d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of craniocervical region"; "MONDO:patterns/cancer" . _:7388d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of head and neck"; "NCIT:C4013" . _:738ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of the head and neck"; "NCIT:C4013" . _:738bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniocervical region cancer"; "MONDO:patterns/location" . _:738dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck cancer"; "NCIT:C4013" . _:738ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck cancer"; rdfs:comment "preferred label from MONDO" . _:7390d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck malignant neoplasia"; "MONDO:patterns/cancer" . _:7391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck neoplasm"; "DOID:11934", "MTH:NOCODE" . _:7392d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck tumours"; "DOID:11934" . _:7393d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head/neck neoplasm"; "CSP2005:2005-4325", "DOID:11934" . _:7394d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant craniocervical region neoplasm"; "MONDO:patterns/cancer" . _:7395d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant head and neck neoplasm"; "NCIT:C4013" . _:7396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant head and neck tumor"; "NCIT:C4013" . _:739bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of craniocervical region"; "MONDO:patterns/cancer" . _:739dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of head and neck"; "NCIT:C4013" . _:739fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the head and neck"; "NCIT:C4013" . _:73a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of head and neck"; "NCIT:C4013" . _:73a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the head and neck"; "NCIT:C4013" . _:73a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of head and neck"; "DOID:11934" . _:73a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "head and neck cancer, NOS"; "NCIT:C4013"; . a owl:Class; rdfs:subClassOf ; "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses.", "Virus diseases caused by the herpesviridae."; "Sirarat Sarntivijai"; ; , ; "DOID:2939", "MESH:D006566", "MONDO:0005794", "MSH:D006566", "SCTID:23513009"; "Herpesviridae Infections", "Herpesviridae caused disease or disorder", "Herpesviridae disease", "Herpesviridae disease or disorder", "Herpesviridae infections", "Herpesviridae infectious disease", "Herpesvirus infection (disorder)", "herpesvirus infection"; "Herpesviridae infection", "Herpesvirus infection", "Herpesvirus infections", "herpes infection", "infection, Herpesviridae", "infection, Herpesvirus", "infections, Herpesviridae", "infections, Herpesvirus"; "EFO:0007309"; rdfs:label "Herpesviridae infectious disease" . _:73c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Virus diseases caused by the herpesviridae."; "MESH:D006566" . _:73c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2939"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006566"; "EFO:0007309", "MONDO:equivalentTo" . _:73c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D006566"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:23513009"; "MONDO:equivalentTo" . _:73cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesviridae Infections"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesviridae caused disease or disorder"; "MONDO:patterns/specific_infectious_disease_by_agent" . _:73cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesviridae disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesviridae infections"; "MONDO:0024460" . _:73d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesviridae infectious disease"; rdfs:comment "preferred label from MONDO" . _:73d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesvirus infection (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesviridae infection"; "MESH:D006566" . _:73d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesvirus infection"; "MESH:D006566" . _:73ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpesvirus infections"; "MESH:D006566" . _:73dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infection, Herpesviridae"; "MESH:D006566" . _:73e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infection, Herpesvirus"; "MESH:D006566" . _:73e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infections, Herpesviridae"; "MESH:D006566" . _:73e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infections, Herpesvirus"; "MESH:D006566" . a owl:Class; rdfs:subClassOf ; "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.", "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia."; "Sirarat Sarntivijai"; , , , , , ; , ; "DOID:13317", "HP:0000825", "ICD10:E16.9", "MONDO:0005803", "MSH:D046768", "SCTID:42681006"; "Islet cell hyperplasia", "Nesidioblastosis", "hyperinsulinemic hypoglycemia", "hyperinsulinemic hypoglycemia (disease)", "islet cell hyperplasia", "nesidioblastosis", "persistent hyperinsulinemia hypoglycemia of infancy"; "EFO:0007318"; rdfs:label "hyperinsulinemic hypoglycemia" . _:73e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia."; "NCIT:P378" . _:73efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13317"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13317"; "EFO:0007318", "MONDO:equivalentTo" . _:73f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000825"; "MONDO:otherHierarchy", "ontobio" . _:73f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.9"; "DOID:13317" . _:73f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D046768"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42681006"; "DOID:13317", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.16" . _:73fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Islet cell hyperplasia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nesidioblastosis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:73ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia"; "MONDO:ambiguous" . _:7400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia (disease)"; rdfs:comment "preferred label from MONDO" . _:7402d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "islet cell hyperplasia"; "DOID:13317" . _:7404d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nesidioblastosis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7405d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nesidioblastosis"; "DOID:13317" . _:7406d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent hyperinsulinemia hypoglycemia of infancy"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent hyperinsulinemia hypoglycemia of infancy"; "DOID:13317" . a owl:Class; rdfs:subClassOf ; "A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.", "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features."; "Sirarat Sarntivijai"; ; , , , , , , , ; "COHD:4216406", "DOID:3429", "GARD:0003896", "ICD10:G72.41", "ICD10:M60.8", "ICD9:359.71", "ICD9:729.1", "MESH:D018979", "MONDO:0007827", "MSH:D018979", "MedDRA:10066407", "NCIT:C84786", "OMIM:147421", "Orphanet:611", "SCTID:72315009", "UMLS:C0238190"; "Distal Myopathy with Rimmed Vacuoles (DMRV)", "Distal myopathy, Nonaka type", "HIBM", "Hereditary Inclusion Body Myopathy", "IBM", "IBM-3", "IBM2", "Myositis, Inclusion Body", "Nonaka Myopathy", "Nonaka myopathy", "distal myopathy with rimmed vacuoles", "distal myopathy with rimmed vacuoles (DMRV)", "distal myopathy, Nonaka type", "hereditary inclusion body myopathy", "inclusion body myopathy 2", "inclusion body myopathy 3", "inclusion body myositis", "sIBM", "sporadic inclusion body myositis"; "Ibm", "inflammatory myopathy"; "EFO:0007323"; ; rdfs:label "inclusion body myositis" . _:7413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features."; "Orphanet:611" . _:7419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:741bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4216406"; "MONDO:equivalentTo" . _:741dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3429"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:741fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3429"; "EFO:0007323", "MONDO:equivalentTo" . _:7420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003896"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:7421d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G72.41"; "DOID:3429" . _:7425d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M60.8"; "ORDO:611/ntbt", "Orphanet:611" . _:7427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.71"; "DOID:3429", "MONDO:equivalentTo", "i2s" . _:742ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:729.1"; "MONDO:relatedTo", "i2s" . _:742cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018979"; "DOID:3429", "EFO:0007323", "MONDO:equivalentTo" . _:742dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D018979"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:742ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066407"; "ORDO:611/e", "Orphanet:611" . _:7434d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84786"; "DOID:3429", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:7436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147421"; "DOID:3429", "MONDO:equivalentTo", "ORDO:611/e", "Orphanet:611" . _:7439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:611"; "MONDO:equivalentTo", "OMIM:147421" . _:743ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:72315009"; "DOID:3429", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.09" . _:743dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238190"; "DOID:3429", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84786", "OMIM:147421", "ORDO:611/e", "Orphanet:611" . _:7441d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Distal Myopathy with Rimmed Vacuoles (DMRV)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7443d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Distal myopathy, Nonaka type"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIBM"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7446d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIBM"; "DOID:3429" . _:7448d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary Inclusion Body Myopathy"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7449d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBM"; "Orphanet:611" . _:744ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBM-3"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:744bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBM-3"; "DOID:3429" . _:744cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBM2"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:744dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBM2"; "DOID:3429" . _:744ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Myositis, Inclusion Body"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:744fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonaka Myopathy"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7450d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonaka myopathy"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7451d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonaka myopathy"; "DOID:3429" . _:7452d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy with rimmed vacuoles"; "DOID:3429" . _:7457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy with rimmed vacuoles (DMRV)"; "DOID:3429" . _:745ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy, Nonaka type"; "DOID:3429" . _:745cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary inclusion body myopathy"; "DOID:3429" . _:745ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy 2"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7461d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy 2"; "DOID:3429" . _:7462d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy 3"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy 3"; "DOID:3429" . _:7467d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myositis"; "OMIM:147421" . _:7469d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myositis"; rdfs:comment "preferred label from MONDO" . _:746ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sIBM"; "Orphanet:611" . _:746cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sporadic inclusion body myositis"; "Orphanet:611" . _:746ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ibm"; "OMIM:147421" . _:7470d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory myopathy"; "GARD:0003896" . _:7474d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:611" . a owl:Class; rdfs:subClassOf ; "A disease involving the lymphatic part of lymphoid system.", "a disease in lymphatic system"; "Sirarat Sarntivijai"; , , , , ; , , , , ; "DOID:75", "ICD10:I89", "ICD10:J35", "MESH:D008206", "MONDO:0005833", "NCIT:C50764", "SCTID:362971004", "UMLS:C0024228"; "disease of lymphatic part of lymphoid system", "disease or disorder of lymphatic part of lymphoid system", "disorder of lymph node and lymphatics", "disorder of lymphatic part of lymphoid system", "disorder of lymphatic system", "glands, swollen", "lymphatic disease", "lymphatic disorder", "lymphatic part of lymphoid system disease", "lymphatic part of lymphoid system disease or disorder", "lymphatic system disease", "swollen gland", "swollen glands"; "lymphadenopathy", "lymphangiopathy"; "adenopathy", "disease of lympoid system", "disorder of lymphatic part of lymphoid system", "disorder of lymphoid system", "lymphangiopathy, NOS", "lympoid system disease"; "EFO:0007352"; rdfs:comment "Editor note: check alignment to anatomy, consider lymphoid system disease"; rdfs:label "lymphatic system disease" . _:747ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the lymphatic part of lymphoid system."; "MONDO:DesignPattern" . _:747fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "a disease in lymphatic system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7481d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7482d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:75"; "MONDO:equivalentTo" . _:7484d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008206"; "DOID:75", "MONDO:equivalentTo", "MONDO:ontobio" . _:7486d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C50764"; "MONDO:equivalentTo" . _:7488d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:362971004"; "DOID:75", "MONDO:equivalentTo" . _:7489d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024228"; "DOID:75", "MONDO:equivalentTo" . _:748ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of lymphatic part of lymphoid system"; "MONDO:patterns/location_top" . _:748bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lymph node and lymphatics"; "DOID:75" . _:748cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lymphatic part of lymphoid system"; "MONDO:patterns/location_top" . _:748dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lymphatic system"; "DOID:75" . _:748ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glands, swollen"; "NCIT:C50764" . _:7490d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphatic disease"; "DOID:75", "MTH:461", "MTH:NOCODE" . _:7495d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphatic disorder"; "CSP2005:0427-7757", "DOID:75", "NCIT:C3206" . _:7497d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphatic part of lymphoid system disease"; "MONDO:patterns/location" . _:7499d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphatic part of lymphoid system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:749fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphatic system disease"; rdfs:comment "preferred label from MONDO" . _:74a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "swollen gland"; "NCIT:C50764" . _:74a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "swollen glands"; "NCIT:C50764" . _:74a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphadenopathy"; "NCIT:C50764" . _:74a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiopathy"; "DOID:75" . _:74a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenopathy"; "DOID:75" . _:74a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of lympoid system"; "DOID:75" . _:74aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lymphatic part of lymphoid system"; "MONDO:patterns/location_top" . _:74acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lymphoid system"; "DOID:75" . _:74aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiopathy, NOS"; "DOID:75"; . _:74b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lympoid system disease"; "DOID:75" . a owl:Class; rdfs:subClassOf , , ; "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.", "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum."; "Sirarat Sarntivijai"; , , , , ; , , , ; "male genital neoplasm", "male reproductive system neoplasm", "neoplasm of male genital organ", "tumor of male reproductive system"; "DOID:3856", "ICD10:C60-C63", "ICD10:C63.9", "ICD9:187.8", "ICD9:187.9", "MESH:D005834", "MONDO:0005836", "MSH:D005834", "NCIT:C8561", "SCTID:363515000"; "Genital Neoplasms, Male", "cancer of male reproductive organ", "male genital cancer", "male reproductive organ cancer", "male reproductive system neoplasm", "malignant Male reproductive system neoplasm", "malignant Male reproductive system tumor", "malignant male reproductive organ neoplasm", "malignant neoplasm of Male reproductive system", "malignant neoplasm of male genital organ", "malignant neoplasm of male genital organ or tract", "malignant neoplasm of male genital organ, NOS", "malignant neoplasm of male genital organ, site unspecified", "malignant neoplasm of male genital organ, unspecified (disorder)", "malignant neoplasm of male genital organs", "malignant neoplasm of male genital organs (disorder)", "malignant neoplasm of male reproductive organ", "malignant neoplasm of the Male reproductive system", "malignant tumor of Male reproductive system", "malignant tumor of male Reproductive system", "malignant tumor of male genital organ", "malignant tumor of male genital organ (disorder)", "malignant tumor of male reproductive system", "malignant tumor of the Male reproductive system", "neoplasm of male genital organ", "tumor of male Reproductive system"; "Male reprod. system cancer, NOS", "Male reproductive system cancer, NOS", "malignant neoplasm of male genital organ, NOS"; "EFO:0007355"; rdfs:label "male reproductive organ cancer" . _:74bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma."; "NCIT:C8561" . _:74c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:74c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:74c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male genital neoplasm"; "DOID:3856" . _:74c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system neoplasm"; "CSP2005:2016-2462", "DOID:3856" . _:74cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of male genital organ"; "DOID:3856" . _:74cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of male reproductive system"; "DOID:3856", "NCIT:C3054" . _:74cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3856"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:74d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3856"; "EFO:0007355", "MONDO:equivalentTo" . _:74d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C60-C63"; "DOID:3856" . _:74d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C63.9"; "DOID:3856" . _:74d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:187.8"; "MONDO:relatedTo", "i2s" . _:74d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:187.9"; "DOID:3856", "MONDO:equivalentTo", "i2s" . _:74dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005834"; "DOID:3856", "EFO:0007355", "MONDO:equivalentTo", "MONDO:ontobio" . _:74dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D005834"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:74e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C8561"; "DOID:3856", "MONDO:equivalentTo" . _:74e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363515000"; "DOID:3856", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.10" . _:74ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genital Neoplasms, Male"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:74ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of male reproductive organ"; "MONDO:patterns/cancer" . _:74edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male genital cancer"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:74efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male genital cancer"; "DOID:3856" . _:74f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive organ cancer"; "MONDO:patterns/location" . _:74f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive organ cancer"; rdfs:comment "preferred label from MONDO" . _:74f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system neoplasm"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:74f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant Male reproductive system neoplasm"; "NCIT:C8561" . _:74f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant Male reproductive system tumor"; "NCIT:C8561" . _:74f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant male reproductive organ neoplasm"; "MONDO:patterns/cancer" . _:74f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of Male reproductive system"; "NCIT:C8561" . _:74f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organ"; "DOID:3856" . _:74fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organ or tract"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:74fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organ or tract"; "DOID:3856" . _:74fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organ, NOS"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organ, site unspecified"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:752ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organ, site unspecified"; "DOID:3856", "ICD9CM_2006:187.9" . _:7530d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organ, unspecified (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7532d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organs"; "DOID:3856" . _:7533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organs (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7534d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male reproductive organ"; "MONDO:patterns/cancer" . _:7535d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the Male reproductive system"; "NCIT:C8561" . _:7536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of Male reproductive system"; "NCIT:C8561" . _:7537d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of male Reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7538d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of male genital organ"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7539d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of male genital organ"; "DOID:3856", "MTH:U001031" . _:753ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of male genital organ (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:753bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of male reproductive system"; "DOID:3856", "NCIT:C8561" . _:753ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the Male reproductive system"; "NCIT:C8561" . _:7540d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of male genital organ"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7541d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of male Reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7543d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male reprod. system cancer, NOS"; "NCIT:C8561"; . _:7545d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male reproductive system cancer, NOS"; "NCIT:C8561"; . _:7547d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of male genital organ, NOS"; "DOID:3856"; . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the nervous system.", "An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system."; "Sirarat Sarntivijai"; , , , , , , ; , , , ; "DOID:3093", "ICD9:192", "ICD9:192.8", "ICD9:192.9", "MESH:D009423", "MONDO:0005872", "MSH:D009380", "NCIT:C4788", "SCTID:372063002"; "Neoplasms, Nerve Tissue", "cancer of nervous system", "malignant neoplasm of nervous system", "malignant neoplasm of the nervous system", "malignant nervous system neoplasm", "malignant nervous system tumor", "malignant tumor of nervous system", "malignant tumor of the nervous system", "neoplasm of nervous system", "neoplasm of nervous system (disorder)", "nervous system cancer", "nervous system neoplasm", "nervous system neoplasms, malignant", "neural neoplasm", "neural tumor", "tumor of the nervous system"; "EFO:0007392"; rdfs:label "nervous system cancer" . _:7551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm involving the nervous system."; "NCIT:C4788" . _:7553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7555d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7557d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3093"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7559d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3093"; "EFO:0007392", "MONDO:equivalentTo" . _:755bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:192"; "DOID:3093" . _:755cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:192.8"; "MONDO:relatedTo", "i2s" . _:755dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:192.9"; "DOID:3093", "MONDO:equivalentTo", "i2s" . _:755fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009423"; "MONDO:equivalentTo", "MONDO:ontobio" . _:7562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D009380"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7563d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4788"; "MONDO:equivalentTo" . _:7564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:372063002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.76/0.22" . _:7567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neoplasms, Nerve Tissue"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7569d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of nervous system"; "MONDO:patterns/cancer" . _:756bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of nervous system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:756dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of nervous system"; "DOID:3093", "MONDO:patterns/cancer", "NCIT:C4788" . _:756ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the nervous system"; "NCIT:C4788" . _:756fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant nervous system neoplasm"; "MONDO:patterns/cancer", "NCIT:C4788" . _:7570d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant nervous system tumor"; "NCIT:C4788" . _:7571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of nervous system"; "NCIT:C4788" . _:7572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of the nervous system"; "NCIT:C4788" . _:7573d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of nervous system"; "DOID:3093" . _:7575d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of nervous system (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system cancer"; "MONDO:patterns/location" . _:7579d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system cancer"; rdfs:comment "preferred label from MONDO" . _:757bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system neoplasm"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:757dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system neoplasm"; "CSP2005:2012-5157", "DOID:3093" . _:757fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system neoplasms, malignant"; "NCIT:C4788" . _:7581d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neural neoplasm"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7583d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neural neoplasm"; "DOID:3093" . _:7585d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neural tumor"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7587d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neural tumor"; "DOID:3093" . _:7589d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the nervous system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:758bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the nervous system"; "DOID:3093", "NCIT:C3268" . a owl:Class; rdfs:subClassOf , , ; "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.", "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas."; "Sirarat Sarntivijai"; , , ; "DOID:3262", "MESH:D010585", "MONDO:0005910", "MSH:D010585", "UMLS:C0031306"; "Phagocyte Bactericidal Dysfunction", "phagocyte bactericidal dysfunction", "phagocytic dysfunction"; "EFO:0007433"; rdfs:comment "Editor note: consider merging"; rdfs:label "phagocyte bactericidal dysfunction" . _:7592d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas."; "MESH:D010585" . _:7595d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3262"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3262"; "EFO:0007433", "MONDO:equivalentTo" . _:759bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010585"; "DOID:3262", "EFO:0007433", "MONDO:equivalentTo", "MONDO:ontobio" . _:759cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D010585"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:759ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031306"; "DOID:3262", "MONDO:equivalentTo" . _:759fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phagocyte Bactericidal Dysfunction"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phagocyte bactericidal dysfunction"; rdfs:comment "preferred label from MONDO" . _:75a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phagocytic dysfunction"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phagocytic dysfunction"; "CSP2005:0427-7579", "DOID:3262" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.", "An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum."; "Sirarat Sarntivijai"; , , , , , , , , , , ; , , , ; "DOID:5875", "ICD10:C48", "ICD10:C48.0", "ICD9:158", "ICD9:158.0", "MESH:D012186", "MONDO:0005941", "MSH:D012186", "NCIT:C3537", "SCTID:126872008"; "cancer of retroperitoneal space", "malignant neoplasm of retroperitoneal space", "malignant neoplasm of retroperitoneum and peritoneum", "malignant neoplasm of retroperitoneum and peritoneum NOS (disorder)", "malignant retroperitoneal neoplasm", "malignant retroperitoneal space neoplasm", "malignant tumor of peritoneum and retroperitoneum", "malignant tumor of peritoneum and retroperitoneum (disorder)", "neoplasm of retroperitoneum", "neoplasm of the retroperitoneum", "retroperitoneal cancer", "retroperitoneal neoplasm", "retroperitoneal space cancer", "tumor of retroperitoneum"; "malignant neoplasm of retroperitoneum", "malignant retroperitoneal cancer"; "EFO:0007466"; rdfs:label "retroperitoneal cancer" . _:75acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas."; "NCIT:P378" . _:75aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5875"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5875"; "EFO:0007466", "MONDO:equivalentTo" . _:75b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C48"; "DOID:5875" . _:75b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C48.0"; "DOID:5875" . _:75b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:158"; "DOID:5875" . _:75bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:158.0"; "DOID:5875" . _:75bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012186"; "DOID:5875", "EFO:0007466", "MONDO:equivalentTo", "MONDO:ontobio" . _:75c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D012186"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3537"; "DOID:5875", "MONDO:equivalentTo", "MONDO:kboom" . _:75c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126872008"; "DOID:5875", "MONDO:equivalentTo", "MONDO:kboom-pr-0.81/0.62/0.09" . _:75c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of retroperitoneal space"; "MONDO:patterns/cancer" . _:75c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of retroperitoneal space"; "MONDO:patterns/cancer" . _:75c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of retroperitoneum and peritoneum"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of retroperitoneum and peritoneum"; "DOID:5875", "ICD9CM_2006:158" . _:75cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of retroperitoneum and peritoneum NOS (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant retroperitoneal neoplasm"; "NCIT:C3537" . _:75cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant retroperitoneal space neoplasm"; "MONDO:patterns/cancer" . _:75ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of peritoneum and retroperitoneum"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of peritoneum and retroperitoneum"; "DOID:5875" . _:75d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of peritoneum and retroperitoneum (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of retroperitoneum"; "DOID:5875" . _:75d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the retroperitoneum"; "DOID:5875" . _:75d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal cancer"; rdfs:comment "preferred label from MONDO" . _:75ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retroperitoneal neoplasm"; "CSP2005:2005-3788", "DOID:5875", "NCIT:C3357" . _:75e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of retroperitoneum"; "DOID:5875" . _:75e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of retroperitoneum"; "DOID:5875", "ICD9CM_2006:158.0" . _:75e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant retroperitoneal cancer"; "DOID:5875" . a owl:Class; rdfs:subClassOf , ; "An encephalitis that involves inflammation of the brain caused by viral infection.", "Encephalitis resulting from viral infection."; "Sirarat Sarntivijai"; , , , , , , ; , , , , , , ; "COHD:372547", "DOID:646", "ICD10:A83", "ICD10:A84", "MONDO:0006009", "MSH:D004671", "MedDRA:10058805", "NCIT:C35302", "Orphanet:98252", "SCTID:34476008", "UMLS:C0243010"; "Arbovirus encephalitis", "Arbovirus encephalitis (disorder)", "Arbovirus encephalitis (disorder) [Ambiguous]", "Arthropod-borne viral encephalitis, vector unknown", "Arthropod-borne viral encephalitis, vector unknown (disorder)", "Encephalitis - viral", "Encephalitis in viral disease NOS (disorder)", "Encephalitis, Arbovirus", "Epidemic Encephalitis", "Epidemic encephalitis", "Epidemic encephalitis (disorder)", "Unspecified viral encephalitis (disorder)", "Viral Encephalitis", "Viral encephalitis (disorder)", "Viral encephalitis NOS", "Viruses caused encephalitis", "Viruses encephalitis", "arbovirus encephalitis", "epidemic encephalitis", "mosquito-borne viral encephalitis", "tick-borne viral encephalitis", "viral encephalitis"; "EFO:0007538"; rdfs:comment "Editor note: we place the Orphanet class here as it is implicitly viral"; rdfs:label "viral encephalitis" . _:75f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An encephalitis that involves inflammation of the brain caused by viral infection."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Encephalitis resulting from viral infection."; "NCIT:C35302" . _:75f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:372547"; "MONDO:equivalentTo" . _:75f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:646"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:75fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:646"; "EFO:0007538", "MONDO:equivalentTo" . _:75ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D004671"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7601d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058805"; "ORDO:98252/e", "Orphanet:98252" . _:7603d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35302"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.79/0.07" . _:7605d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98252"; "MONDO:equivalentTo" . _:7607d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:34476008"; "MONDO:equivalentTo" . _:7609d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0243010"; "MONDO:equivalentTo", "NCIT:C35302" . _:760ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arbovirus encephalitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:760cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arbovirus encephalitis (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:760dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arbovirus encephalitis (disorder) [Ambiguous]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:760fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arthropod-borne viral encephalitis, vector unknown"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7610d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arthropod-borne viral encephalitis, vector unknown (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Encephalitis - viral"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7613d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Encephalitis in viral disease NOS (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7614d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Encephalitis, Arbovirus"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7616d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidemic Encephalitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7617d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidemic encephalitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7618d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidemic encephalitis (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unspecified viral encephalitis (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:761ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Viral Encephalitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:761bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Viral encephalitis (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:761cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Viral encephalitis NOS"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:761dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Viruses caused encephalitis"; "MONDO:patterns/specific_infectious_disease_by_agent" . _:761ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arbovirus encephalitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7620d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidemic encephalitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7623d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidemic encephalitis"; "DOID:646" . _:7624d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mosquito-borne viral encephalitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7625d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tick-borne viral encephalitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "viral encephalitis"; "NCIT:C35302" . _:7629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "viral encephalitis"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "Cerebral small vessel disease is the term currently used to pathological processes that affect the brain parenchymal circulation (arterioles, capillaries, and veins). It is a major contributor to stroke, and a leading cause of cognitive impairment and dementia."; "Laura Huerta"; , ; "https://doi.org/10.3389/fphar.2016.00061"; "Orphanet:477754", "SNOMEDCT:443929000", "UMLS:CN776941"; "genetic cerebral small vessel disease", "small vessel cerebrovascular disease"; "EFO:0008493"; ; rdfs:label "cerebral small vessel disease" . _:762cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cerebral small vessel disease is the term currently used to pathological processes that affect the brain parenchymal circulation (arterioles, capillaries, and veins). It is a major contributor to stroke, and a leading cause of cognitive impairment and dementia."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:762ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "https://doi.org/10.3389/fphar.2016.00061"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7632d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:477754"; "MONDO:equivalentTo" . _:7634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:443929000"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776941"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:7637d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic cerebral small vessel disease"; rdfs:comment "preferred label from MONDO" . _:7639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small vessel cerebrovascular disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:763bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:477754" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of DNA repair.", "DNA repair deficiency refers to any mutation in the repair mechanisms that leads to accumulation of DNA errors and carcinogenesis."; "Laura Huerta"; ; , ; "https://doi.org/10.1007/s10689-016-9883-7"; "MESH:D049914", "MONDO:0021190", "NCIT:C7757", "NCIt:C7757", "UMLS:C0268134"; "DNA repair disease", "DNA repair disorder", "deficiency of DNA repair", "disorder of DNA repair"; "DNA Repairs, deficient", "DNA repair deficiency", "DNA repair deficiency disorders", "DNA repair, deficient", "DNA repair-deficiencies", "DNA repair-deficiency", "DNA repair-deficiency disorder", "Repairs, deficient DNA", "chromosome instability syndrome", "chromosome instability syndromes", "deficient DNA Repairs", "deficient DNA repair", "disorder of DNA repair", "disorder, DNA repair-deficiency", "disorders, DNA repair-deficiency", "repair, deficient DNA", "syndrome, chromosome instability", "syndromes, chromosome instability"; "EFO:0008499"; rdfs:comment "A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair."; rdfs:label "DNA repair deficiency" . _:7649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of DNA repair."; "MONDO:patterns/basis_in_disruption_of_process" . _:764ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair deficiency refers to any mutation in the repair mechanisms that leads to accumulation of DNA errors and carcinogenesis."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:764bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:764cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "https://doi.org/10.1007/s10689-016-9883-7"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D049914"; "MONDO:equivalentTo" . _:7655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7757"; "MONDO:equivalentTo" . _:7656d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C7757"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7658d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268134"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:765ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair disease"; rdfs:comment "preferred label from MONDO" . _:7680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of DNA repair"; "MONDO:patterns/basis_in_disruption_of_process" . _:7688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA Repairs, deficient"; "MESH:D049914" . _:7689d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair deficiency"; "MESH:D049914" . _:768ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair deficiency disorders"; "MESH:D049914" . _:768bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair, deficient"; "MESH:D049914" . _:768cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair-deficiencies"; "MESH:D049914" . _:768dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair-deficiency"; "MESH:D049914" . _:768fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair-deficiency disorder"; "MESH:D049914" . _:7692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Repairs, deficient DNA"; "MESH:D049914" . _:7693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome instability syndrome"; "MESH:D049914" . _:7695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome instability syndromes"; "MESH:D049914" . _:7697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficient DNA Repairs"; "MESH:D049914" . _:769ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficient DNA repair"; "MESH:D049914" . _:769cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of DNA repair"; "MONDO:patterns/basis_in_disruption_of_process" . _:769ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, DNA repair-deficiency"; "MESH:D049914" . _:76a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, DNA repair-deficiency"; "MESH:D049914" . _:76a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "repair, deficient DNA"; "MESH:D049914" . _:76a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, chromosome instability"; "MESH:D049914" . _:76a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, chromosome instability"; "MESH:D049914" . _:76a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf ; "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary.", "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes."; "Laura Huerta"; , ; , , , , ; "COHD:133729", "DOID:13543", "ICD10:E21", "ICD10:E21.3", "ICD9:252.0", "ICD9:252.00", "MESH:D006961", "MONDO:0001741", "MSH:D006961", "NCIT:C48259", "NCIt:C48259", "OMIMPS:145000", "ORDO:99879", "SCTID:66999008", "SNOMEDCT:66999008", "UMLS:C0020502"; "hyperparathyroidism"; "EFO:0008506"; rdfs:comment "Hyperparathyroidism is an increased parathyroid hormone levels in the blood."; rdfs:label "hyperparathyroidism" . _:76add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes."; "NCIT:C48259" . _:76afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:133729"; "MONDO:equivalentTo" . _:76b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13543"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13543"; "MONDO:equivalentTo" . _:76b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E21.3"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E21.3"; "DOID:13543" . _:76b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:252.0"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:252.0"; "DOID:13543", "MONDO:equivalentTo", "i2s" . _:76bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:252.00"; "DOID:13543", "MONDO:equivalentTo", "i2s" . _:76bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006961"; "DOID:13543", "MONDO:equivalentTo", "MONDO:ontobio" . _:76c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D006961"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C48259"; "DOID:13543", "MONDO:equivalentTo", "exact-label-match" . _:76c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C48259"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:145000"; "MONDO:cjm", "MONDO:equivalentTo" . _:76c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORDO:99879"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:66999008"; "DOID:13543", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:76c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:66999008"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020502"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020502"; "DOID:13543", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C48259" . _:76cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism"; "NCIT:C48259" . _:76ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism"; rdfs:comment "preferred label from MONDO" . _:76cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "Hyperparathyroidism is an increased parathyroid hormone levels in the blood."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , , , , ; "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.", "Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs."; "Laura Huerta"; , , , , ; , , , , ; "https://doi.org/10.1590/abd1806-4841.20132125"; "COHD:376938", "DOID:8712", "GARD:0010420", "ICD10:Q85.00", "ICD10:Q85.01", "ICD10:Q85.02", "ICD9:237.7", "ICD9:237.70", "ICD9:237.71", "ICD9:237.72", "ICD9CM:237.7", "ICDO:9540/1", "MESH:D017253", "NCIT:C6727", "NCIt:C6727", "SCTID:19133005", "SNOMEDCT:81669005", "UMLS:C0162678"; "Neurofibromatosis 1", "Recklinghausen's neurofibromatosis", "acoustic neurofibromatosis", "central Neurofibromatosis", "neurofibromatosis", "neurofibromatosis syndrome", "neurofibromatosis type 1", "neurofibromatosis type 2", "neurofibromatosis type 4", "neurofibromatosis type IV", "peripheral Neurofibromatosis", "type IV neurofibromatosis of riccardi", "von Reklinghausen disease"; "EFO:0008514"; rdfs:comment "Neurofibromatosis is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis."; rdfs:label "neurofibromatosis" . _:76d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist."; "MONDO:cjm", "NCIT:C6727", "https://en.wikipedia.org/wiki/Neurofibromatosis" . _:76dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "https://doi.org/10.1590/abd1806-4841.20132125"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:376938"; "MONDO:equivalentTo" . _:76e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8712"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8712"; "MONDO:equivalentTo" . _:76e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010420"; "MONDO:equivalentTo", "shared-umls-xref" . _:76e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.00"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:76e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.00"; "DOID:8712" . _:76ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.01"; "DOID:8712" . _:76edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.02"; "DOID:8712", "MONDO:superClassOf" . _:76efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.7"; "DOID:8712" . _:76f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.70"; "DOID:8712", "MONDO:equivalentTo", "i2s" . _:76f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.71"; "DOID:8712", "MONDO:superClassOf" . _:76f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.72"; "DOID:8712", "MONDO:superClassOf" . _:7700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9CM:237.7"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7701d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:9540/1"; "NCIT:C6727" . _:7704d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017253"; "MONDO:equivalentTo" . _:7706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C6727"; "MONDO:equivalentTo" . _:7707d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C6727"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7709d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:19133005"; "DOID:8712", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:770ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:81669005"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:770bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162678"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:770cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162678"; "DOID:8712", "MONDO:equivalentTo", "NCIT:C6727" . _:770dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurofibromatosis 1"; "DOID:8712" . _:770ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Recklinghausen's neurofibromatosis"; "DOID:8712" . _:7710d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acoustic neurofibromatosis"; "DOID:8712" . _:7712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central Neurofibromatosis"; "DOID:8712" . _:7713d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis"; "NCIT:C6727" . _:7714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis"; rdfs:comment "preferred label from MONDO" . _:7718d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis syndrome"; "NCIT:C6727" . _:771ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 1"; "DOID:8712" . _:771bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 2"; "DOID:8712" . _:771cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 4"; "DOID:8712" . _:771dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type IV"; "DOID:8712" . _:771ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral Neurofibromatosis"; "DOID:8712" . _:771fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type IV neurofibromatosis of riccardi"; "DOID:8712" . _:7720d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Reklinghausen disease"; "DOID:8712" . _:7721d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "Neurofibromatosis is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , , ; "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1 , BICD2 , or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.", "Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy."; "Laura Huerta"; , ; , , , , ; "https://doi.org/10.1093/brain/awr229"; "COHD:372605", "DOID:12377", "GARD:0007674", "ICD10:G12.9", "ICD9:335.1", "ICD9:335.10", "ICD9:335.19", "MESH:D009134", "MONDO:0001516", "MSH:D009134", "NCIT:C85075", "NCIt:C85075", "SCTID:5262007", "SNOMEDCT:5262007", "UMLS:C0026847"; "spinal muscular atrophy"; "EFO:0008525"; ; rdfs:label "spinal muscular atrophy"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy"^^xsd:anyURI . _:7729d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1 , BICD2 , or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person."; "https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy" . _:772ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:772dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:772ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "https://doi.org/10.1093/brain/awr229"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7730d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:372605"; "MONDO:equivalentTo" . _:7732d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12377"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12377"; "MONDO:equivalentTo" . _:7735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007674"; "MONDO:equivalentTo" . _:7737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G12.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:773ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G12.9"; "DOID:12377" . _:773bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.1"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:773dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.1"; "DOID:12377" . _:773fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.10"; "DOID:12377", "MONDO:equivalentTo", "i2s" . _:7742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.19"; "MONDO:relatedTo", "i2s" . _:7743d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009134"; "DOID:12377", "MONDO:equivalentTo" . _:7745d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D009134"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7747d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85075"; "DOID:12377", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:774ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C85075"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:774cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:5262007"; "DOID:12377", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:774ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:5262007"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:774fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026847"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026847"; "DOID:12377", "MONDO:equivalentTo", "NCIT:C85075" . _:7751d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinal muscular atrophy"; rdfs:comment "preferred label from MONDO" . _:7753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007674" . _:7754d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy"^^xsd:anyURI; "GARD:0007674" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm involving any part of the digestive system.", "A neoplasm (disease) that involves the digestive system."; ; , ; "paolaroncaglia"; "2018-03-14T10:10:48Z"^^xsd:dateTime; "ICD10:D13", "ICD10:D37", "MESH:D005770", "MONDO:0021223", "NCIT:C3052"; "Digestive Neoplasm", "Digestive System Neoplasm", "Digestive System Tumor", "Digestive Tumor", "GI Neoplasm", "GI System Neoplasm", "GI System Tumor", "GI Tumor", "GI neoplasm", "GI system neoplasm", "GI system tumor", "GI tumor", "Gastrointestinal Neoplasm", "Gastrointestinal System Neoplasm", "Gastrointestinal System Tumor", "Gastrointestinal Tumor", "Neoplasm of Digestive System", "Neoplasm of GI System", "Neoplasm of Gastrointestinal System", "Neoplasm of the Digestive System", "Neoplasm of the GI System", "Neoplasm of the Gastrointestinal System", "Tumor of Digestive System", "Tumor of GI System", "Tumor of Gastrointestinal System", "Tumor of the Digestive System", "Tumor of the GI System", "Tumor of the Gastrointestinal System", "digestive neoplasm", "digestive system neoplasm", "digestive system neoplasm (disease)", "digestive system tumor", "digestive tumor", "gastrointestinal neoplasm", "gastrointestinal system neoplasm", "gastrointestinal system tumor", "gastrointestinal tumor", "neoplasm of GI system", "neoplasm of digestive system", "neoplasm of gastrointestinal system", "neoplasm of the GI system", "neoplasm of the digestive system", "neoplasm of the gastrointestinal system", "tumor of GI system", "tumor of digestive system", "tumor of gastrointestinal system", "tumor of the GI system", "tumor of the digestive system", "tumor of the gastrointestinal system"; "EFO:0008549"; rdfs:label "digestive system neoplasm" . _:775fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the digestive system."; "MONDO:patterns/location" . _:7760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005770"; "MONDO:equivalentTo" . _:7762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3052"; "MONDO:equivalentTo" . _:7764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GI neoplasm"; "NCIT:C3052" . _:776ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GI system neoplasm"; "NCIT:C3052" . _:776dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GI system tumor"; "NCIT:C3052" . _:776fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GI tumor"; "NCIT:C3052" . _:7770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive neoplasm"; "NCIT:C3052" . _:7772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system neoplasm"; rdfs:comment "preferred label from MONDO" . _:7774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system neoplasm (disease)"; "MONDO:patterns/location" . _:7776d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system tumor"; "MONDO:patterns/neoplasm", "NCIT:C3052" . _:7779d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive tumor"; "NCIT:C3052" . _:777bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal neoplasm"; "NCIT:C3052" . _:777cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal system neoplasm"; "NCIT:C3052" . _:777ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal system tumor"; "NCIT:C3052" . _:7780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal tumor"; "NCIT:C3052" . _:7782d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of GI system"; "NCIT:C3052" . _:7785d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of digestive system"; "MONDO:patterns/neoplasm", "NCIT:C3052" . _:7786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of gastrointestinal system"; "NCIT:C3052" . _:7788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the GI system"; "NCIT:C3052" . _:778ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the digestive system"; "NCIT:C3052" . _:778ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the gastrointestinal system"; "NCIT:C3052" . _:7791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of GI system"; "NCIT:C3052" . _:7792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of digestive system"; "MONDO:patterns/neoplasm", "NCIT:C3052" . _:7793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of gastrointestinal system"; "NCIT:C3052" . _:7794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the GI system"; "NCIT:C3052" . _:7796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the digestive system"; "NCIT:C3052" . _:7797d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the gastrointestinal system"; "NCIT:C3052" . a owl:Class; rdfs:subClassOf , ; "Diminished or absent ability of a female to achieve conception.", "Diminished or absent ability of a female to achieve conception. [ MESH:D007247 ]"; , , ; "COHD:201909", "HP:0008222", "ICD10:N97", "ICD9:628.8", "ICD9:628.9", "MESH:D007247", "MONDO:0021124", "MP:0001926", "MSH:D007247", "SCTID:6738008", "SNOMEDCT_US:6738008", "UMLS:C0021361", "UMLS:C0341869"; "female infertility", "female reproductive system infertility", "female reproductive system infertility disorder", "infertility disorder of female reproductive system"; "female sterility", "female sub-fertility", "female subfertility", "postpartum sterility", "sterility, female", "sterility, postpartum", "sub fertility, female", "sub-fertility, female", "subfertility, female"; "EFO:0008560"; rdfs:label "female infertility" . _:779fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diminished or absent ability of a female to achieve conception."; "MESH:D007247" . _:77a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:201909"; "MONDO:equivalentTo" . _:77a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97"; "MONDO:equivalentTo" . _:77a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:628.8"; "MONDO:relatedTo", "i2s" . _:77a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:628.9"; "MONDO:equivalentTo", "i2s" . _:77a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007247"; "MONDO:equivalentTo" . _:77a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:6738008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/12.82" . _:77a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0341869"; "MONDO:equivalentTo" . _:77a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female infertility"; "MESH:D007247" . _:77d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female infertility"; rdfs:comment "preferred label from MONDO" . _:77d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system infertility"; "MONDO:patterns/location" . _:77d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system infertility disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:77d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infertility disorder of female reproductive system"; "MONDO:design_pattern" . _:77dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female sterility"; "MESH:D007247" . _:77dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female sub-fertility"; "MESH:D007247" . _:77e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female subfertility"; "MESH:D007247" . _:77e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "postpartum sterility"; "MESH:D007247" . _:77e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sterility, female"; "MESH:D007247" . _:77e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sterility, postpartum"; "MESH:D007247" . _:77e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sub fertility, female"; "MESH:D007247" . _:77ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sub-fertility, female"; "MESH:D007247" . _:77edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "subfertility, female"; "MESH:D007247" . a owl:Class; rdfs:subClassOf ; "A congenital or acquired kidney disorder characterized by the presence of renal cysts.", "A congenital or acquired kidney disorder characterized by the presence of renal cysts. [ NCI ]"; "Zoe May Pendlington"; ; , , , , ; "COHD:193016", "DOID:2975", "ICD10:Q61", "MESH:D052177", "NCIT:C34750", "SCTID:722223000", "UMLS:C0022679", "UMLS_CUI:C1691228"; "Cystic Kidney Diseases", "Cystic Renal Diseases", "Kidney, Cystic", "cystic kidney disease", "kidney cyst", "renal cyst"; "EFO:0008615"; rdfs:label "Cystic Kidney Disease" . _:77eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital or acquired kidney disorder characterized by the presence of renal cysts."; "NCIT:C34750" . _:77efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:193016"; "MONDO:equivalentTo" . _:77f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2975"; "MONDO:equivalentTo" . _:77f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61"; "MONDO:equivalentTo" . _:77f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D052177"; "DOID:2975", "MONDO:equivalentTo", "MONDO:ontobio" . _:77fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34750"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.87/0.21" . _:77fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722223000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.47/0.20" . _:77ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022679"; "DOID:2975", "MONDO:equivalentTo" . _:7801d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystic kidney disease"; rdfs:comment "preferred label from MONDO" . _:7803d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney cyst"; "DOID:2975", "MTH:646" . _:7804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal cyst"; "DOID:2975", "NCIT:C3970" . a owl:Class; rdfs:subClassOf ; "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. [ NCI ]"; "NCIT:C75464", "UMLS_CUI:C0022680"; "Fibrocystic Renal Disease", "PKD - Polycystic Kidney Disease"; rdfs:label "Polycystic Kidney Disease" . a owl:Class; rdfs:subClassOf , ; "Any disease affecting the vitreous body of the eye.", "Any disease affecting the vitreous body of the eye. [ NCI ]"; "Zoe May Pendlington"; , , ; "ICD10:H43", "ICD10:H45", "ICD9:379.29", "MONDO:0044137", "NCIT:C45256", "SCTID:76682005", "UMLS:C0155365", "UMLS_CUI:C0155365"; "disease of vitreous body", "disease or disorder of vitreous body", "disorder of vitreous body", "vitreous body disease", "vitreous body disease or disorder", "vitreous body disorder"; "disorder of vitreous body"; "EFO:0008624"; rdfs:label "vitreous body disease" . _:7808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease affecting the vitreous body of the eye."; "NCIT:C45256" . _:7809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:379.29"; "linkedlifedata" . _:780ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C45256"; "MONDO:equivalentTo" . _:780cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:76682005"; "MONDO:equivalentTo" . _:780ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0155365"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C45256" . _:7810d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of vitreous body"; "MONDO:design_pattern", "MONDO:patterns/location_top" . _:7813d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vitreous body"; "MONDO:patterns/location_top" . _:7814d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitreous body disease"; "MONDO:design_pattern" . _:7815d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitreous body disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7818d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitreous body disorder"; "NCIT:C45256" . _:781ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitreous body disorder"; rdfs:comment "preferred label from MONDO" . _:781cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vitreous body"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "The inability of the ovaries to function.", "The inability of the ovaries to function. [ NCI ]"; "Zoe May Pendlington"; , , , , ; , , ; "DOID:1414", "ICD10:E28", "ICD9:256.3", "ICD9:256.39", "ICD9:256.8", "ICD9:256.9", "MONDO:0001889", "NCIT:C113351", "SCTID:37102008"; "ovarian dysfunction", "ovarian failure", "ovarian hypofunction", "ovarian insufficiency"; "EFO:0009003"; rdfs:label "ovarian dysfunction" . _:7825d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The inability of the ovaries to function."; "NCIT:C113351" . _:7828d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1414"; "MONDO:equivalentTo" . _:782ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E28"; "MONDO:equivalentTo" . _:782bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:256.3"; "DOID:1414" . _:782cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:256.39"; "DOID:1414" . _:782dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:256.8"; "MONDO:relatedTo", "i2s" . _:782ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:256.9"; "MONDO:equivalentTo", "i2s" . _:782fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C113351"; "MONDO:equivalentTo" . _:7831d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:37102008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.23" . _:7832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian dysfunction"; rdfs:comment "preferred label from MONDO" . _:7835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian failure"; "NCIT:C113351" . _:7838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian hypofunction"; "NCIT:C113351" . _:783bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian insufficiency"; "NCIT:C113351" . a owl:Class; rdfs:subClassOf ; "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.", "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. [ NCI ]"; "Zoe May Pendlington"; , , , ; , , , ; "true"; "DOID:7998", "ICD10:E05", "ICD10:E05.9", "ICD9:242.90", "MESH:D006980", "MONDO:0004425", "NCIT:C3123", "NCIt:C3123", "SCTID:34486009"; "hyperthyroidism", "overactive thyroid"; "EFO:0009189"; rdfs:label "Hyperthyroidism" . _:783fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor."; "NCIT:P378" . _:7840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:7998"; "MONDO:equivalentTo" . _:7842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E05.9"; "DOID:7998" . _:7843d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:242.90"; "MONDO:relatedTo", "i2s" . _:7845d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006980"; "DOID:7998", "MONDO:equivalentTo", "MONDO:ontobio" . _:7847d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3123"; "DOID:7998", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:7849d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:34486009"; "DOID:7998", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:784ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperthyroidism"; rdfs:comment "preferred label from MONDO" . _:784fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "overactive thyroid"; "DOID:7998", "NCIT:C3123" . a owl:Class; rdfs:subClassOf ; "Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction."; , ; "MONDO:0018554", "Orphanet:431353", "UMLS:CN237555"; "pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"; "EFO:0009199"; ; rdfs:label "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" . _:7850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction."; "Orphanet:431353" . _:7851d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:431353"; "MONDO:equivalentTo" . _:7852d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN237555"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:7853d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"; rdfs:comment "preferred label from MONDO" . _:7854d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:431353" . a owl:Class; rdfs:subClassOf , , ; "A carcinoma that arises from epithelial cells of the zone of skin", "A carcinoma that arises from the skin. Representative examples are basal cell carcinoma and squamous cell carcinoma. [ NCI ]"; , , ; "DOID:3451", "NCIT:C4914", "UMLS:C0699893", "UMLS_CUI:C0699893"; "Carcinoma of Skin", "Carcinoma of the Skin", "Skin Cancer", "Skin Carcinoma", "carcinoma of skin", "carcinoma of the skin", "carcinoma of zone of skin", "non-melanoma cancer of skin", "non-melanoma cancer of the skin", "non-melanoma skin cancer", "nonmelanoma skin cancer", "skin cancer, non-melanoma", "skin carcinoma", "zone of skin carcinoma"; "EFO:0009259"; rdfs:label "skin carcinoma" . _:7857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A carcinoma that arises from epithelial cells of the zone of skin"; "MONDO:DesignPattern" . _:7859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3451"; "MONDO:equivalentTo" . _:785ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4914"; "DOID:3451", "MONDO:equivalentTo", "exact-label-match" . _:785dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0699893"; "DOID:3451", "MONDO:equivalentTo", "NCIT:C4914" . _:7863d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of skin"; "DOID:3451", "MTH:683", "NCIT:C4914" . _:7864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the skin"; "NCIT:C4914" . _:7867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of zone of skin"; "MONDO:patterns/carcinoma" . _:7868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-melanoma cancer of skin"; "NCIT:C4914" . _:7869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-melanoma cancer of the skin"; "NCIT:C4914" . _:786bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-melanoma skin cancer"; "NCIT:C4914" . _:786cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonmelanoma skin cancer"; "NCIT:C4914" . _:786ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin cancer, non-melanoma"; "NCIT:C4914" . _:7870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin carcinoma"; "NCIT:C4914" . _:7872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin carcinoma"; rdfs:comment "preferred label from MONDO" . _:7874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin carcinoma"; "MONDO:patterns/location" . a owl:Class; rdfs:subClassOf ; "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.", "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. [ NCIT:C2902 ]"; "Zoe May Pendlington"; , , , , , ; , , , ; "COHD:432585", "DOID:1247", "ICD10:D68", "ICD10:D68.9", "ICD9:286", "ICD9:286.9", "ICD9:287.8", "MESH:D001778", "NCIT:C2902", "NCIt:C2902", "SCTID:64779008", "UMLS:C0005779"; "Blood Coagulation Disorder", "Coagulation Defect", "Coagulation Disorder", "Coagulation Disorder, Blood", "Coagulation Disorders, Blood", "Coagulopathy", "Disorder, Blood Coagulation", "Disorders, Blood Coagulation", "blood coagulation disease", "blood coagulation disorder", "clotting disorder", "coagulation defect", "coagulation disorder", "coagulation disorder, blood", "coagulation disorders, blood", "coagulopathy", "disorder, blood coagulation", "disorders, blood coagulation", "excessive bleeding", "postpartum coagulation defect", "postpartum coagulation defect with delivery"; "EFO:0009314"; rdfs:label "blood coagulation disease" . _:7879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood."; "NCIT:C2902" . _:787ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:432585"; "MONDO:equivalentTo" . _:787bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1247"; "MONDO:equivalentTo" . _:787cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.9"; "DOID:1247" . _:787dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286"; "DOID:1247" . _:787fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286.9"; "MONDO:relatedTo", "i2s" . _:7881d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:287.8"; "MONDO:relatedTo", "i2s" . _:7882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001778"; "DOID:1247", "MONDO:equivalentTo" . _:7885d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2902"; "DOID:1247", "MONDO:equivalentTo" . _:7886d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:64779008"; "DOID:1247", "MONDO:equivalentTo" . _:7887d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood coagulation disease"; rdfs:comment "preferred label from MONDO" . _:7888d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blood coagulation disorder"; "MESH:D001778" . _:788ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation defect"; "NCIT:C2902" . _:788bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation disorder"; "NCIT:C2902" . _:788cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation disorder, blood"; "MESH:D001778" . _:788fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation disorders, blood"; "MESH:D001778" . _:7891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulopathy"; "NCIT:C2902", "https://en.wikipedia.org/wiki/Coagulopathy" . _:7893d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, blood coagulation"; "MESH:D001778" . _:7895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, blood coagulation"; "MESH:D001778" . _:7897d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "postpartum coagulation defect"; "DOID:1247" . _:7899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "postpartum coagulation defect with delivery"; "DOID:1247" . a owl:Class; rdfs:subClassOf ; "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.", "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. [ NCI ]"; "Zoe May Pendlington"; , ; , , , , ; "COHD:4295287", "DOID:2452", "ICD10:D68.59", "ICD9:286.9", "MESH:D019851", "NCIT:C84479", "NCIt:C84479", "OMIMPS:188050", "SCTID:234467004", "UMLS:C0398623"; "Excessive Blood Clotting", "Hypercoagulability", "Hypercoagulability State", "Hypercoagulable", "excessive blood clotting", "hypercoagulability", "hypercoagulability state", "hypercoagulable", "thrombophilia"; "EFO:0009315"; rdfs:label "thrombophilia" . _:789bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome."; "NCIT:P378" . _:789dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4295287"; "MONDO:equivalentTo" . _:789ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2452"; "MONDO:equivalentTo" . _:78a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.59"; "DOID:2452" . _:78a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286.9"; "MONDO:relatedTo", "i2s" . _:78a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019851"; "DOID:2452", "MONDO:equivalentTo", "MONDO:ontobio" . _:78a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84479"; "DOID:2452", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:78abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:188050"; "MONDO:cjm", "MONDO:equivalentTo" . _:78add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234467004"; "DOID:2452", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:78afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398623"; "DOID:2452", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C84479" . _:78b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "excessive blood clotting"; "NCIT:C84479" . _:78b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercoagulability"; "NCIT:C84479" . _:78b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercoagulability state"; "DOID:2452" . _:78b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercoagulable"; "NCIT:C84479" . _:78bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombophilia"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved."; rdfs:label "familial tumoral calcinosis" . a owl:Class; rdfs:subClassOf ; "A disease involving the central nervous system."; , , , , , , , , , , , ; , , , , ; "DOID:331", "ICD10:G09", "ICD10:G96.9", "MESH:D002493", "MONDO:0002602", "NCIT:C2934", "NCIt:C2934", "SCTID:23853001", "UMLS:C0007682"; "central nervous disease", "central nervous system disease", "central nervous system disease or disorder", "central nervous system disorder", "disease of central nervous system", "disease or disorder of central nervous system", "disorder of central nervous system"; "disorder of central nervous system"; "EFO:0009386"; rdfs:label "central nervous system disease" . _:78c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the central nervous system."; "MONDO:DesignPattern" . _:78c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:331"; "MONDO:equivalentTo" . _:78cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G96.9"; "DOID:331" . _:78cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002493"; "DOID:331", "MONDO:equivalentTo" . _:78ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2934"; "DOID:331", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:78ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:23853001"; "DOID:331", "MONDO:equivalentTo" . _:78d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007682"; "DOID:331", "MONDO:equivalentTo", "NCIT:C2934" . _:78d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous disease"; "DOID:331" . _:78d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system disease"; "MONDO:patterns/location", "NCIT:C2934" . _:78d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system disease"; rdfs:comment "preferred label from MONDO" . _:78d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:78d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system disorder"; "NCIT:C2934" . _:78d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of central nervous system"; "MONDO:patterns/location_top" . _:78d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of central nervous system"; "MONDO:patterns/location_top", "NCIT:C2934" . _:78d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of central nervous system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the peripheral nervous system."; , , , , , , , , , , ; , , , ; "DOID:574", "ICD10:G64", "ICD9:350-359.99", "ICD9:356.9", "MESH:D010523", "MONDO:0003620", "NCIT:C27580", "SCTID:42658009"; "PNS (peripheral nervous system) diseases", "PNS disease", "PNS diseases", "disease of peripheral nervous system", "disease or disorder of peripheral nervous system", "disorder of peripheral nervous system", "disorder of the peripheral nervous system", "peripheral nerve disorder", "peripheral nervous disease", "peripheral nervous system disease", "peripheral nervous system disease or disorder", "peripheral nervous system disorder", "peripheral nervous system disorders"; "nerve disease, peripheral", "nerve diseases, peripheral", "neuropathy, peripheral", "peripheral Neuropathies", "peripheral nerve disease", "peripheral nerve diseases", "peripheral neuropathy"; "disorder of peripheral nervous system", "peripheral nerve disease", "peripheral neuropathy"; "EFO:0009387"; rdfs:label "peripheral nervous system disease" . _:78fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the peripheral nervous system."; "MONDO:DesignPattern" . _:78fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:574"; "MONDO:equivalentTo" . _:78fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G64"; "DOID:574" . _:7900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:350-359.99"; "DOID:574" . _:7901d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:356.9"; "MONDO:relatedTo", "i2s" . _:7902d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010523"; "DOID:574", "MONDO:equivalentTo" . _:7906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27580"; "DOID:574", "MONDO:equivalentTo" . _:7907d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42658009"; "DOID:574", "MONDO:equivalentTo" . _:7908d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNS (peripheral nervous system) diseases"; "MESH:D010523" . _:7909d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNS disease"; "MESH:D010523" . _:790ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNS diseases"; "MESH:D010523" . _:790dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of peripheral nervous system"; "MONDO:patterns/location_top" . _:790fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of peripheral nervous system"; "MONDO:patterns/location_top", "NCIT:C27580" . _:7910d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous disease"; "DOID:574" . _:7911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous system disease"; "MESH:D010523", "MONDO:patterns/location", "NCIT:C27580" . _:7913d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous system disease"; rdfs:comment "preferred label from MONDO" . _:7915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous system disorder"; "NCIT:C27580" . _:7917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nervous system disorders"; "MESH:D010523" . _:7919d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nerve disease, peripheral"; "MESH:D010523" . _:791bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nerve diseases, peripheral"; "MESH:D010523" . _:791cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuropathy, peripheral"; "MESH:D010523" . _:791dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral Neuropathies"; "MESH:D010523" . _:791ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nerve disease"; "MESH:D010523", "NCIT:C27580" . _:7920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nerve diseases"; "MESH:D010523" . _:7921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral neuropathy"; "MESH:D010523" . _:7924d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of peripheral nervous system"; "MONDO:patterns/location_top" . _:7926d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral nerve disease"; "DOID:574", "MTH:516" . _:7927d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral neuropathy"; "CSP2005:2042-6617", "DOID:574" . a owl:Class; rdfs:subClassOf ; "A metabolic disorder characterized by abnormal blood glucose levels."; , , , , ; true; "DOID:4194", "ICD9:271.8", "MESH:D044882", "MONDO:0002908", "NCIT:C53655", "SCTID:126877002", "UMLS:C1257958"; "disorder of glucose metabolism", "glucose metabolism disease", "glucose metabolism disorder"; "EFO:0009406"; rdfs:label "glucose metabolism disease" . _:792fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A metabolic disorder characterized by abnormal blood glucose levels."; "NCIT:P378" . _:7933d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4194"; "MONDO:equivalentTo" . _:7934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.8"; "MONDO:relatedTo", "i2s" . _:7938d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D044882"; "DOID:4194", "MONDO:equivalentTo", "MONDO:ontobio" . _:793bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C53655"; "DOID:4194", "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.73" . _:793dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126877002"; "DOID:4194", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:7940d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1257958"; "DOID:4194", "MONDO:equivalentTo", "NCIT:C53655" . _:7942d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glucose metabolism"; "NCIT:C53655" . _:7944d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucose metabolism disease"; rdfs:comment "preferred label from MONDO" . _:7947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucose metabolism disorder"; "NCIT:C53655" . a owl:Class; rdfs:subClassOf ; "A disease that affects the small or large intestine.", "A non-neoplastic or neoplastic disorder that affects the small or large intestine."; , , , , ; , , , ; "DOID:5295", "ICD10:A04", "ICD10:A08", "ICD10:K63", "ICD10:K63.9", "ICD9:520-579.99", "ICD9:560-569.99", "ICD9:564", "ICD9:564.4", "ICD9:569", "ICD9:569.4", "ICD9:569.49", "ICD9:569.89", "ICD9:569.9", "ICD9:570-579.99", "ICD9:575", "MESH:D007410", "MONDO:0005020", "NCIT:C26801", "SCTID:85919009"; "disease of intestine", "disease or disorder of intestine", "disorder of intestine", "intestinal disease", "intestinal disorder", "intestine disease", "intestine disease or disorder", "intestine disorder"; "disease, intestinal", "diseases, intestinal", "disorder of intestine"; "EFO:0009431"; rdfs:label "intestinal disease" . _:794bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the small or large intestine."; "NCIT:C26801" . _:794dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5295"; "EFO:0000405", "MONDO:equivalentTo" . _:794ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K63.9"; "DOID:5295" . _:7950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:520-579.99"; "EFO:0000405" . _:7952d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:560-569.99"; "EFO:0000405" . _:795cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:564"; "EFO:0000405" . _:795dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:564.4"; "EFO:0000405" . _:795fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:569"; "EFO:0000405" . _:7964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:569.4"; "EFO:0000405" . _:7966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:569.49"; "EFO:0000405" . _:7969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:569.89"; "MONDO:relatedTo", "i2s" . _:796bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:569.9"; "DOID:5295", "MONDO:equivalentTo", "i2s" . _:796dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:570-579.99"; "EFO:0000405" . _:7970d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:575"; "EFO:0000405" . _:7972d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007410"; "DOID:5295", "EFO:0000405", "MONDO:equivalentTo" . _:7974d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26801"; "DOID:5295", "MONDO:equivalentTo" . _:7975d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:85919009"; "DOID:5295", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.80/0.38" . _:7976d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of intestine"; "MONDO:patterns/location_top" . _:7977d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of intestine"; "MONDO:patterns/location_top" . _:7978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal disease"; "MESH:D007410" . _:7979d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal disease"; rdfs:comment "preferred label from MONDO" . _:797ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal disorder"; "NCIT:C26801" . _:797bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestine disease"; "MONDO:patterns/location" . _:797cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestine disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:797dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, intestinal"; "MESH:D007410" . _:797fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, intestinal"; "MESH:D007410" . _:7981d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of intestine"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the lower respiratory tract.", "A disease that affects the lower respiratory tract."; , , ; , , ; "DOID:0050161", "ICD10:J22", "ICD9:478.1", "ICD9:478.19", "MONDO:0000270", "SCTID:128272009", "UMLS:C1290325"; "disease of lower respiratory tract", "disease or disorder of lower respiratory tract", "disorder of lower respiratory system", "disorder of lower respiratory tract", "lower respiratory tract disease", "lower respiratory tract disease or disorder", "lower respiratory tract disorder"; "disorder of lower respiratory tract"; "EFO:0009433"; rdfs:label "lower respiratory tract disease" . _:7984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the lower respiratory tract."; "MONDO:DesignPattern" . _:7986d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050161"; "MONDO:equivalentTo" . _:7989d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:478.1"; "DOID:0050161" . _:798bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:478.19"; "DOID:0050161" . _:798dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128272009"; "MONDO:equivalentTo" . _:7993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290325"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:7995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of lower respiratory tract"; "MONDO:patterns/location_top" . _:7996d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lower respiratory tract"; "MONDO:patterns/location_top" . _:7997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lower respiratory tract disease"; "MONDO:patterns/location" . _:7998d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lower respiratory tract disease"; rdfs:comment "preferred label from MONDO" . _:7999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lower respiratory tract disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:799ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lower respiratory tract"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g. during surgery). Other causes include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. [ https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism ]", "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism , metabolic alkalosis , DiGeorge syndrome , and type I polyglandular autoimmune syndrome . The goal of treatment is to restore the calcium and mineral balance in the body."; , , , ; , , , ; "COHD:140362", "DOID:11199", "GARD:0006733", "ICD10:E20", "ICD10:E20.9", "ICD9:252.1", "MESH:D007011", "MONDO:0001220", "NCIT:C78350", "SCTID:36976004"; "hypoparathyroidism"; "hypoparathyroidism, idiopathic (subtype)", "parathyroid, underactivity of"; "EFO:0009451"; ; rdfs:label "hypoparathyroidism"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism"^^xsd:anyURI . _:79a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g. during surgery). Other causes include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. [ https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism ]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism , metabolic alkalosis , DiGeorge syndrome , and type I polyglandular autoimmune syndrome . The goal of treatment is to restore the calcium and mineral balance in the body."; "https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism" . _:79a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:140362"; "MONDO:equivalentTo" . _:79a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11199"; "MONDO:equivalentTo" . _:79a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006733"; "MONDO:equivalentTo" . _:79a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20"; "DOID:11199", "MONDO:equivalentTo" . _:79abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.9"; "DOID:11199" . _:79add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:252.1"; "DOID:11199", "MONDO:equivalentTo", "i2s" . _:79aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007011"; "DOID:11199", "MONDO:equivalentTo", "MONDO:ontobio" . _:79afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0001220"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C78350"; "DOID:11199", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:79b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:36976004"; "DOID:11199", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:79b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism"; rdfs:comment "preferred label from MONDO" . _:79b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, idiopathic (subtype)"; "GARD:0006733" . _:79bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid, underactivity of"; "GARD:0006733" . _:79bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006733" . _:79c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism"^^xsd:anyURI; "GARD:0006733" . a owl:Class; rdfs:subClassOf ; "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.", "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. [ NCIT:P378 ]"; , , , ; , , , , ; "COHD:195213", "DOID:446", "ICD10:E26", "ICD10:E26.9", "ICD9:255.1", "ICD9:255.10", "MESH:D006929", "MONDO:0003009", "SCTID:88213004", "UMLS:C0020428"; "Cushing syndrome", "Cushing's syndrome", "hyperaldosteronism"; "primary hyperaldosteronism"; "EFO:0009452"; rdfs:label "hyperaldosteronism" . _:79c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia."; "NCIT:P378" . _:79cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. [ NCIT:P378 ]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:195213"; "MONDO:equivalentTo" . _:79ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:446"; "MONDO:equivalentTo" . _:79d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26"; "DOID:446", "MONDO:equivalentTo" . _:79d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.9"; "DOID:446" . _:79d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.1"; "DOID:446", "MONDO:equivalentTo", "i2s" . _:79d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.10"; "DOID:446", "MONDO:equivalentTo", "i2s" . _:79d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006929"; "DOID:446", "MONDO:equivalentTo" . _:79dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0003009"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:88213004"; "DOID:446", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:79ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020428"; "DOID:446", "MONDO:equivalentTo" . _:79e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cushing syndrome"; "DOID:446" . _:79e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cushing's syndrome"; "DOID:446" . _:79e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperaldosteronism"; rdfs:comment "preferred label from MONDO" . _:79e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hyperaldosteronism"; "DOID:446" . a owl:Class; rdfs:subClassOf ; "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.", "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. [ MESH:D006429 ]"; , , , , , , , ; , , ; "COHD:374022", "DOID:10969", "GARD:0006583", "ICD10:G81", "ICD9:343.4", "MESH:D006429", "MONDO:0001170", "SCTID:1593000"; "hemiplegia", "infantile hemiplegia", "postnatal infantile hemiplegia"; "EFO:0009453"; ; rdfs:label "hemiplegia"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6583/hemiplegia"^^xsd:anyURI . _:79ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body."; "MESH:D006429" . _:79efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. [ MESH:D006429 ]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:374022"; "MONDO:equivalentTo" . _:79f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10969"; "MONDO:equivalentTo" . _:79f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006583"; "MONDO:equivalentTo" . _:79f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G81"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:343.4"; "DOID:10969", "MONDO:equivalentTo", "i2s" . _:79f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006429"; "DOID:10969", "MONDO:equivalentTo" . _:79f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0001170"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:79f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:1593000"; "DOID:10969", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.77/0.82" . _:79f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemiplegia"; rdfs:comment "preferred label from MONDO" . _:79f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile hemiplegia"; "DOID:10969" . _:79fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "postnatal infantile hemiplegia"; "DOID:10969", "MTHICD9_2006:343.4" . _:79fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006583" . _:79fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6583/hemiplegia"^^xsd:anyURI; "GARD:0006583" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.", "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. [ NCIT:C26809 ]"; , , , , ; , , ; "DOID:1400", "ICD10:H04", "ICD10:H04.9", "ICD9:375", "ICD9:375.69", "ICD9:375.89", "ICD9:375.9", "MONDO:0001854", "NCIT:C26809", "SCTID:31053003"; "disease of lacrimal apparatus", "disease or disorder of lacrimal apparatus", "disorder of lacrimal apparatus", "disorder of lacrimal system", "lacrimal apparatus disease", "lacrimal apparatus disease or disorder", "lacrimal apparatus disorder", "lacrimal system disease", "lacrimal system disorder"; "disorder of lacrimal apparatus", "lachrymal system disorders"; "EFO:0009455"; rdfs:label "lacrimal apparatus disease" . _:7a04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus."; "NCIT:C26809" . _:7a0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. [ NCIT:C26809 ]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7a0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1400"; "MONDO:equivalentTo" . _:7a0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H04"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7a10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H04"; "DOID:1400" . _:7a12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H04.9"; "DOID:1400" . _:7a14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:375"; "DOID:1400" . _:7a15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:375.69"; "MONDO:relatedTo", "i2s" . _:7a16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:375.89"; "MONDO:relatedTo", "i2s" . _:7a18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:375.9"; "DOID:1400", "MONDO:equivalentTo", "i2s" . _:7a2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0001854"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7a30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26809"; "DOID:1400", "MONDO:equivalentTo" . _:7a33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:31053003"; "DOID:1400", "MONDO:equivalentTo" . _:7a35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of lacrimal apparatus"; "MONDO:patterns/location_top" . _:7a37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lacrimal apparatus"; "MONDO:patterns/location_top" . _:7a39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lacrimal system"; "NCIT:C26809" . _:7a3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lacrimal apparatus disease"; "MONDO:patterns/location" . _:7a3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lacrimal apparatus disease"; rdfs:comment "preferred label from MONDO" . _:7a3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lacrimal apparatus disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7a3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lacrimal system disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7a41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lacrimal system disease"; "MONDO:0021628" . _:7a42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lacrimal system disorder"; "NCIT:C26809" . _:7a44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lacrimal apparatus"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.", "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [ NCIT ]"; , , , ; , , , , ; "DOID:10124", "ICD10:H18.9", "ICD9:371.30", "ICD9:371.89", "ICD9:371.9", "MESH:D003316", "MONDO:0000942", "NCIT:C26731", "SCTID:15250008", "UMLS:C0010034"; "cornea disease", "cornea disease or disorder", "corneal disease", "corneal disorder", "disease of cornea", "disease or disorder of cornea", "disorder of cornea"; "disorder of cornea"; "EFO:0009464"; rdfs:label "corneal disease" . _:7a49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma."; "NCIT:P378" . _:7a4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10124"; "MONDO:equivalentTo" . _:7a4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H18.9"; "DOID:10124" . _:7a4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:371.30"; "MONDO:relatedTo", "i2s" . _:7a50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:371.89"; "MONDO:relatedTo", "i2s" . _:7a51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:371.9"; "DOID:10124", "MONDO:equivalentTo", "i2s" . _:7a53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003316"; "DOID:10124", "MONDO:equivalentTo", "MONDO:ontobio" . _:7a55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26731"; "DOID:10124", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:7a57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15250008"; "DOID:10124", "MONDO:equivalentTo" . _:7a59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010034"; "DOID:10124", "MONDO:equivalentTo", "NCIT:C26731" . _:7a5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cornea disease"; "MONDO:patterns/location" . _:7a5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cornea disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7a5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "corneal disease"; "NCIT:C26731" . _:7a5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "corneal disease"; rdfs:comment "preferred label from MONDO" . _:7a60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "corneal disorder"; "NCIT:C26731" . _:7a61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of cornea"; "MONDO:patterns/location_top" . _:7a62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cornea"; "MONDO:patterns/location_top" . _:7a63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cornea"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease affecting tissues that connect, support, or surround other structures and organs of the body, not being hard tissue such as bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes (which are connective tissue), and muscles, nerves and blood vessels (which are not connective tissue)."; "ICD10:M70", "ICD10:M73", "ICD10:M75", "ICD10:M79", "Wikipedia:Soft_tissue"; rdfs:label "soft tissue disease" . a owl:Class; rdfs:subClassOf ; "A disease involving the breast."; , , , , , ; , , , , ; "COHD:77030", "DOID:3463", "ICD10:N60-N65", "ICD10:N64", "ICD10:N64.9", "ICD9:610-612.99", "ICD9:611.8", "ICD9:611.9", "MESH:D001941", "MONDO:0002657", "NCIT:C26709", "SCTID:79604008", "UMLS:C0006145"; "breast disease", "breast disease or disorder", "breast diseases", "breast disorder", "disease of breast", "disease or disorder of breast", "disorder of breast"; "disorder of breast"; "EFO:0009483"; rdfs:label "breast disease" . _:7a6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the breast."; "MONDO:DesignPattern" . _:7a70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:77030"; "MONDO:equivalentTo" . _:7a72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3463"; "MONDO:equivalentTo" . _:7a73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N60-N65"; "DOID:3463" . _:7a74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N64.9"; "DOID:3463" . _:7a75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:610-612.99"; "DOID:3463" . _:7a76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:611.8"; "MONDO:relatedTo", "i2s" . _:7a77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:611.9"; "DOID:3463", "MONDO:equivalentTo", "i2s" . _:7a78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001941"; "DOID:3463", "MONDO:equivalentTo", "MONDO:ontobio" . _:7a79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26709"; "DOID:3463", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:7a7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:79604008"; "DOID:3463", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.76/8.51" . _:7a7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006145"; "DOID:3463", "MONDO:equivalentTo", "NCIT:C26709" . _:7a7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast disease"; "MONDO:patterns/location", "NCIT:C26709" . _:7a80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast disease"; rdfs:comment "preferred label from MONDO" . _:7a82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7a84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast diseases"; "NCIT:C26709" . _:7a86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast disorder"; "NCIT:C26709" . _:7a88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of breast"; "MONDO:patterns/location_top" . _:7a8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of breast"; "MONDO:patterns/location_top" . _:7a8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of breast"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the spinal cord."; , , , , , ; , , , , ; "COHD:135526", "DOID:319", "ICD10:G95", "ICD10:G95.9", "ICD9:336.8", "ICD9:336.9", "MESH:D013118", "MONDO:0002545", "NCIT:C97110", "SCTID:48522003", "UMLS:C0037928"; "disease of spinal cord", "disease or disorder of spinal cord", "disorder of spinal cord", "spinal cord disease", "spinal cord disease or disorder", "spinal cord disorder"; "disorder of spinal cord", "myelopathy"; "EFO:0009488"; rdfs:label "spinal cord disease" . _:7a95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the spinal cord."; "MONDO:DesignPattern" . _:7a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:135526"; "MONDO:equivalentTo" . _:7a99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:319"; "MONDO:equivalentTo" . _:7a9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G95.9"; "DOID:319" . _:7a9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:336.8"; "MONDO:relatedTo", "i2s" . _:7a9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:336.9"; "DOID:319", "MONDO:equivalentTo", "i2s" . _:7aa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013118"; "DOID:319", "MONDO:equivalentTo", "MONDO:ontobio" . _:7aa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97110"; "DOID:319", "MONDO:equivalentTo" . _:7aa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:48522003"; "DOID:319", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.77" . _:7aa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037928"; "DOID:319", "MONDO:equivalentTo" . _:7aa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of spinal cord"; "MONDO:patterns/location_top" . _:7aaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of spinal cord"; "MONDO:patterns/location_top" . _:7aacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinal cord disease"; "MONDO:patterns/location" . _:7aaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinal cord disease"; rdfs:comment "preferred label from MONDO" . _:7ab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinal cord disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7ab2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinal cord disorder"; "NCIT:C97110" . _:7ab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of spinal cord"; "MONDO:patterns/location_top" . _:7ab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myelopathy"; "DOID:319" . a owl:Class; rdfs:subClassOf , ; "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.", "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. [ NCIT ]"; , , ; "DOID:3817", "MONDO:0002782", "NCIT:C26941", "UMLS:C0151311"; "cranial nerve palsy", "cranial nerve paralysis"; "cranial nerve palsies"; "EFO:0009489"; rdfs:label "cranial nerve palsy" . _:7ab9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness."; "NCIT:C26941" . _:7abbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3817"; "MONDO:equivalentTo" . _:7abdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26941"; "DOID:3817", "MONDO:equivalentTo", "NCIT:C26941" . _:7abfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0151311"; "DOID:3817", "MONDO:equivalentTo", "NCIT:C26941" . _:7ac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve palsy"; "DOID:3817", "NCIT:C26941" . _:7ac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve palsy"; rdfs:comment "preferred label from MONDO" . _:7ac6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve paralysis"; "DOID:3817", "NCIT:C26941" . _:7ac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve palsies"; "NCIT:C26941" . a owl:Class; rdfs:subClassOf , , ; "Any form of anemia that results from the absence of, or the defective action of, any enzyme."; , ; "ICD10:D55", "MONDO:0020584", "NCIT:C35472", "UMLS:C0494226"; "anemia due to enzyme disorder"; "EFO:0009529"; rdfs:label "anemia due to enzyme disorder" . _:7ac9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any form of anemia that results from the absence of, or the defective action of, any enzyme."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7acad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any form of anemia that results from the absence of, or the defective action of, any enzyme."; "NCIT:C35472" . _:7acbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7acdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0020584"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7acfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35472"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35472"; "MONDO:equivalentTo" . _:7ad3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0494226"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0494226"; "MONDO:equivalentTo" . _:7ad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia due to enzyme disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ad9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia due to enzyme disorder"; "NCIT:C35472" . _:7adbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia due to enzyme disorder"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disease involving the autonomic nervous system."; ; , , , ; ; "COHD:434633", "SCTID:128123007", "SCTID:15241006"; "COHD:434633", "DOID:11465", "ICD10:G90", "ICD9:337.1", "ICD9:337.9", "MESH:D001342", "MONDO:0001292", "SCTID:128123007", "SCTID:15241006"; "autonomic nervous disease", "autonomic nervous system disease", "autonomic nervous system disease or disorder", "autonomic nervous system disorder", "disease of autonomic nervous system", "disease or disorder of autonomic nervous system", "disorder of autonomic nervous system", "disorder of peripheral autonomic nervous system", "dysautonomia"; "autonomic peripheral nervous system diseases", "peripheral autonomic nervous system diseases"; "ANS (autonomic nervous system) diseases", "ANS disease", "ANS diseases", "autonomic central nervous system diseases", "autonomic disease", "autonomic diseases", "autonomic dysfunction, segmental", "autonomic dysfunctions, segmental", "autonomic nervous system disorders", "central autonomic nervous system diseases", "disorder of autonomic nervous system", "disorders of the autonomic nervous system", "nervous system diseases, autonomic", "nervous system diseases, sympathetic", "segmental autonomic dysfunction", "segmental autonomic dysfunctions"; "EFO:0009532"; rdfs:comment "Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html"; rdfs:label "autonomic nervous system disease" . _:7ae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the autonomic nervous system."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the autonomic nervous system."; "MONDO:DesignPattern" . _:7aead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "linkedlife" . _:7aecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434633"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7aedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128123007"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7aefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15241006"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7af1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434633"; "MONDO:equivalentTo" . _:7af3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11465"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7af4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11465"; "MONDO:equivalentTo" . _:7af6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G90"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7af8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:337.1"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7af9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:337.1"; "DOID:11465", "linkedlife" . _:7afbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:337.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7afdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:337.9"; "MONDO:equivalentTo", "i2s" . _:7affd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001342"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001342"; "MONDO:equivalentTo" . _:7b02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0001292"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128123007"; "MONDO:equivalentTo" . _:7b06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15241006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.37/0.47" . _:7b07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous disease"; "DOID:11465" . _:7b09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous system disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous system disease"; "MONDO:patterns/location" . _:7b0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous system disease"; rdfs:comment "preferred label from MONDO" . _:7b0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous system disease or disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7b10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous system disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous system disorder"; "DOID:11465" . _:7b13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of autonomic nervous system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of autonomic nervous system"; "MONDO:patterns/location_top" . _:7b17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder of autonomic nervous system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of autonomic nervous system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of autonomic nervous system"; "MONDO:patterns/location_top" . _:7b1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of peripheral autonomic nervous system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysautonomia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic peripheral nervous system diseases"; "MESH:D001342" . _:7b22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral autonomic nervous system diseases"; "MESH:D001342" . _:7b24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANS (autonomic nervous system) diseases"; "MESH:D001342" . _:7b26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANS disease"; "MESH:D001342" . _:7b28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANS diseases"; "MESH:D001342" . _:7b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic central nervous system diseases"; "MESH:D001342" . _:7b2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic disease"; "MESH:D001342" . _:7b2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic diseases"; "MESH:D001342" . _:7b2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic dysfunction, segmental"; "MESH:D001342" . _:7b30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic dysfunctions, segmental"; "MESH:D001342" . _:7b32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic nervous system disorders"; "MESH:D001342" . _:7b33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central autonomic nervous system diseases"; "MESH:D001342" . _:7b34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of autonomic nervous system"; "MONDO:patterns/location_top" . _:7b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders of the autonomic nervous system"; "MESH:D001342" . _:7b37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system diseases, autonomic"; "MESH:D001342" . _:7b38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system diseases, sympathetic"; "MESH:D001342" . _:7b3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "segmental autonomic dysfunction"; "MESH:D001342" . _:7b3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "segmental autonomic dysfunctions"; "MESH:D001342" . a owl:Class; rdfs:subClassOf ; "A disease involving the basal ganglia."; , , , ; "CSP:2057-3403", "SCTID:70835005"; "CSP:2057-3403", "DOID:679", "ICD10:G23", "ICD9:333.0", "MESH:D001480", "MONDO:0003996", "SCTID:70835005", "UMLS:C0004782"; "basal ganglia disease", "collection of basal ganglia disease", "collection of basal ganglia disease or disorder", "disease of basal ganglia", "disease of collection of basal ganglia", "disease or disorder of collection of basal ganglia", "disorder of collection of basal ganglia"; "disorder of basal ganglia", "disorder of collection of basal ganglia"; "EFO:0009533"; rdfs:label "basal ganglia disease" . _:7b41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the basal ganglia."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the basal ganglia."; "MONDO:DesignPattern" . _:7b45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSP:2057-3403"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:70835005"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSP:2057-3403"; "DOID:679" . _:7b74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:679"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:679"; "MONDO:equivalentTo" . _:7b78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G23"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.0"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.0"; "MONDO:relatedTo", "i2s" . _:7b7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001480"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001480"; "DOID:679", "MONDO:equivalentTo", "MONDO:ontobio" . _:7b80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0003996"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:70835005"; "DOID:679", "MONDO:equivalentTo" . _:7b84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004782"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004782"; "DOID:679", "MONDO:equivalentTo" . _:7b88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "basal ganglia disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "basal ganglia disease"; "MONDO:patterns/location" . _:7b8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "basal ganglia disease"; rdfs:comment "preferred label from MONDO" . _:7b8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "collection of basal ganglia disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "collection of basal ganglia disease"; "MONDO:patterns/location" . _:7b91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "collection of basal ganglia disease or disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "collection of basal ganglia disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7b94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of basal ganglia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of basal ganglia"; "MONDO:patterns/location_top" . _:7b97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of collection of basal ganglia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of collection of basal ganglia"; "MONDO:patterns/location_top" . _:7b9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder of collection of basal ganglia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of collection of basal ganglia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7b9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of collection of basal ganglia"; "MONDO:patterns/location_top" . _:7ba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of basal ganglia"; "MONDO:patterns/location_top" . _:7ba1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of collection of basal ganglia"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the biliary tree."; , , , , , ; , , ; "SCTID:105997008"; "DOID:9741", "ICD10:K83", "ICD10:K83.9", "ICD9:576.9", "MESH:D001660", "MONDO:0004868", "SCTID:105997008"; "biliary tract disease", "biliary tree disease", "biliary tree disease or disorder", "disease of biliary tree", "disease or disorder of biliary tree", "disorder of biliary tree"; "disorder of biliary tree"; "EFO:0009534"; rdfs:label "biliary tract disease" . _:7ba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the biliary tree."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ba6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the biliary tree."; "MONDO:DesignPattern" . _:7ba8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:105997008"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9741"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7babd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9741"; "MONDO:equivalentTo" . _:7badd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K83"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K83.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K83.9"; "DOID:9741" . _:7bb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:576.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:576.9"; "DOID:9741" . _:7bb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001660"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001660"; "DOID:9741", "MONDO:equivalentTo", "MONDO:ontobio" . _:7bb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0004868"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:105997008"; "DOID:9741", "MONDO:equivalentTo" . _:7bbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary tract disease"; rdfs:comment "preferred label from MONDO" . _:7bbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary tree disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary tree disease"; "MONDO:patterns/location" . _:7bbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary tree disease or disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary tree disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of biliary tree"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of biliary tree"; "MONDO:patterns/location_top" . _:7bc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder of biliary tree"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of biliary tree"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of biliary tree"; "MONDO:patterns/location_top" . _:7bcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of biliary tree"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas."; , , , ; , , , , , ; "SCTID:30811009", "SCTID:37657006"; "DOID:6050", "ICD10:K22", "ICD10:K22.9", "ICD9:530", "ICD9:530.2", "ICD9:530.20", "ICD9:530.9", "MESH:D004935", "MONDO:0003749", "NCIT:C3027", "SCTID:30811009", "SCTID:37657006", "UMLS:C0014852"; "disease of esophagus", "disease or disorder of esophagus", "disorder of esophagus", "esophageal disease", "esophageal disorder", "esophagus disease", "esophagus disease or disorder"; "esophageal ulcer"; "disorder of esophagus"; "EFO:0009544"; rdfs:label "esophageal disease" . _:7bd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas."; "NCIT:C3027" . _:7bd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30811009"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:37657006"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6050"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6050"; "MONDO:equivalentTo" . _:7bdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K22"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7be0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K22.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7be2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K22.9"; "DOID:6050" . _:7be4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:530"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7be6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:530"; "DOID:6050" . _:7be8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:530.2"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7be9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:530.2"; "MONDO:equivalentTo", "i2s" . _:7bebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:530.20"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7becd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:530.20"; "MONDO:relatedTo", "i2s" . _:7beed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:530.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7befd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:530.9"; "DOID:6050" . _:7bf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004935"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004935"; "DOID:6050", "MONDO:equivalentTo", "MONDO:ontobio" . _:7bf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0003749"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3027"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3027"; "DOID:6050", "MONDO:equivalentTo" . _:7bfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30811009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.00" . _:7bfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:37657006"; "DOID:6050", "MONDO:equivalentTo" . _:7bfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014852"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7bfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014852"; "DOID:6050", "MONDO:equivalentTo" . _:7bffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of esophagus"; "MONDO:patterns/location_top" . _:7c00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of esophagus"; "MONDO:patterns/location_top" . _:7c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "esophageal disease"; rdfs:comment "preferred label from MONDO" . _:7c02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "esophageal disorder"; "NCIT:C3027" . _:7c04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "esophagus disease"; "MONDO:patterns/location" . _:7c06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "esophagus disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7c08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "esophageal ulcer"; "DOID:6050", "NCIT:C26950" . _:7c0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of esophagus"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the ocular adnexa."; , , ; "SCTID:118941004"; "DOID:0050815", "ICD10:H00.H06", "ICD10:H57", "ICD10:H58", "ICD10:H59", "MONDO:0000462", "SCTID:118941004", "UMLS:C1290855"; "disease of ocular adnexa", "disease or disorder of ocular adnexa", "disorder of ocular adnexa", "eye adnexa disease", "ocular adnexa disease", "ocular adnexa disease or disorder"; "disorder of ocular adnexa"; "EFO:0009546"; rdfs:label "eye adnexa disease" . _:7c10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the ocular adnexa."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the ocular adnexa."; "MONDO:patterns/location_top" . _:7c12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:118941004"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050815"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050815"; "MONDO:equivalentTo" . _:7c17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H00.H06"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H00.H06"; "MONDO:equivalentTo" . _:7c1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H58"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0000462"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:118941004"; "MONDO:equivalentTo" . _:7c20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290855"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290855"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:7c22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of ocular adnexa"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of ocular adnexa"; "MONDO:patterns/location_top" . _:7c25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder of ocular adnexa"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ocular adnexa"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ocular adnexa"; "MONDO:patterns/location_top" . _:7c2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye adnexa disease"; rdfs:comment "preferred label from MONDO" . _:7c2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular adnexa disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular adnexa disease"; "MONDO:patterns/location" . _:7c31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular adnexa disease or disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular adnexa disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7c36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ocular adnexa"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the eyelid."; , , , ; , , , ; "SCTID:60113004"; "DOID:530", "ICD10:H00", "ICD10:H02", "ICD10:H02.9", "ICD10:H03", "ICD9:374.89", "ICD9:374.9", "MESH:D005141", "MONDO:0003382", "NCIT:C26768", "SCTID:60113004"; "disease of eyelid", "disease or disorder of eyelid", "disorder of eyelid", "eyelid disease", "eyelid disease or disorder", "eyelid disorder"; "disorder of eyelid"; "EFO:0009547"; rdfs:label "eyelid disease" . _:7c3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the eyelid."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the eyelid."; "MONDO:DesignPattern" . _:7c3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:60113004"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:530"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:530"; "MONDO:equivalentTo" . _:7c42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H00"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H00"; "MONDO:equivalentTo" . _:7c45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H02.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H02.9"; "DOID:530" . _:7c4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H03"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:374.89"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:374.89"; "MONDO:relatedTo", "i2s" . _:7c53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:374.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:374.9"; "DOID:530", "MONDO:equivalentTo", "i2s" . _:7c55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005141"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005141"; "DOID:530", "MONDO:equivalentTo", "MONDO:ontobio" . _:7c58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0003382"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26768"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26768"; "DOID:530", "MONDO:equivalentTo" . _:7c5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:60113004"; "DOID:530", "MONDO:equivalentTo" . _:7c5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of eyelid"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of eyelid"; "MONDO:patterns/location_top" . _:7c61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder of eyelid"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of eyelid"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of eyelid"; "MONDO:patterns/location_top" . _:7c67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid disease"; "MONDO:patterns/location" . _:7c69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid disease"; rdfs:comment "preferred label from MONDO" . _:7c6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid disease or disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7c6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid disorder"; "NCIT:C26768" . _:7c6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of eyelid"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the female reproductive system."; , , , , , , , ; , , , ; "SCTID:310789003"; "DOID:229", "ICD10:N85", "ICD10:N88", "ICD10:N89", "ICD10:N90", "ICD10:N94", "ICD9:629.9", "MESH:D005831", "MONDO:0002263", "NCIT:C27020", "SCTID:310789003"; "disease of female reproductive system", "disease or disorder of female reproductive system", "disorder of female genital system", "disorder of female reproductive system", "female reproductive disease", "female reproductive system disease", "female reproductive system disease or disorder", "female reproductive system disorder"; "disease of female genital system", "disorder of female genital tract", "disorder of female reproductive system", "gynecological disease"; "EFO:0009549"; rdfs:label "female reproductive system disease" . _:7c78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the female reproductive system."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the female reproductive system."; "MONDO:DesignPattern" . _:7c7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:310789003"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:229"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:229"; "MONDO:equivalentTo" . _:7c82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N94"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:629.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:629.9"; "DOID:229" . _:7c8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005831"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005831"; "DOID:229", "MONDO:equivalentTo" . _:7c95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0002263"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27020"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27020"; "MONDO:equivalentTo" . _:7c9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:310789003"; "DOID:229", "MONDO:equivalentTo" . _:7c9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of female reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of female reproductive system"; "MONDO:patterns/location_top" . _:7c9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder of female reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7c9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of female genital system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7cc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of female reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7cc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of female reproductive system"; "MONDO:patterns/location_top" . _:7cc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive disease"; "DOID:229" . _:7ccbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7cccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system disease"; "MONDO:patterns/location", "NCIT:C27020" . _:7cd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system disease"; rdfs:comment "preferred label from MONDO" . _:7cd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system disease or disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7cd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7cd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7cd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female reproductive system disorder"; "NCIT:C27020" . _:7cdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of female reproductive system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"; , ; ; "COHD:375527", "SCTID:230461009"; "COHD:375527", "ICD10:G44", "MESH:D020773", "MONDO:0021146", "SCTID:230461009"; "headache disorder"; "cephalgia syndrome", "cephalgia syndromes", "chronic daily headache", "chronic daily headaches", "chronic headache", "chronic headaches", "daily headache, chronic", "daily headaches, chronic", "headache syndrome", "headache syndromes", "headache, chronic", "headache, chronic daily", "headache, intractable", "headaches, chronic", "headaches, chronic daily", "headaches, intractable", "intractable headache", "intractable headaches", "syndrome, headache"; "EFO:0009550"; rdfs:label "headache disorder" . _:7ce0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ce1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"; "MESH:D020773" . _:7ce2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MESH:D020773" . _:7ce3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:375527"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ce4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230461009"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:375527"; "MONDO:equivalentTo" . _:7ce7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G44"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020773"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7cebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020773"; "MONDO:equivalentTo" . _:7cecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0021146"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7cedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230461009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:7ceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headache disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7cefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headache disorder"; "MESH:D020773" . _:7cf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headache disorder"; rdfs:comment "preferred label from MONDO" . _:7cf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cephalgia syndrome"; "MESH:D020773" . _:7cf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cephalgia syndromes"; "MESH:D020773" . _:7cf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic daily headache"; "MESH:D020773" . _:7cf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic daily headaches"; "MESH:D020773" . _:7cf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic headache"; "MESH:D020773" . _:7cfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic headaches"; "MESH:D020773" . _:7cfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "daily headache, chronic"; "MESH:D020773" . _:7cfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "daily headaches, chronic"; "MESH:D020773" . _:7cfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headache syndrome"; "MESH:D020773" . _:7cfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headache syndromes"; "MESH:D020773" . _:7cffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headache, chronic"; "MESH:D020773" . _:7d00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headache, chronic daily"; "MESH:D020773" . _:7d01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headache, intractable"; "MESH:D020773" . _:7d02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headaches, chronic"; "MESH:D020773" . _:7d03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headaches, chronic daily"; "MESH:D020773" . _:7d04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "headaches, intractable"; "MESH:D020773" . _:7d05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intractable headache"; "MESH:D020773" . _:7d06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intractable headaches"; "MESH:D020773" . _:7d07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, headache"; "MESH:D020773" . a owl:Class; rdfs:subClassOf ; "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea."; , , , ; "SCTID:32230006"; "ICD10:K90", "MESH:D008286", "MONDO:0020598", "NCIT:C3214", "SCTID:32230006", "UMLS:C0024523"; "malabsorption", "malabsorption syndrome"; "EFO:0009554"; rdfs:label "malabsorption syndrome" . _:7d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea."; "NCIT:C3214" . _:7d10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:32230006"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K90"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008286"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008286"; "MONDO:equivalentTo" . _:7d17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0020598"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3214"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3214"; "MONDO:equivalentTo" . _:7d1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:32230006"; "MONDO:equivalentTo" . _:7d1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024523"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024523"; "MONDO:equivalentTo" . _:7d22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malabsorption"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malabsorption"; "NCIT:C3214" . _:7d26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malabsorption syndrome"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malabsorption syndrome"; "NCIT:C3214" . _:7d2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malabsorption syndrome"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disease involving the male reproductive system."; , , , , , , , ; , , , ; "SCTID:363194005"; "DOID:48", "ICD10:N40.N51", "ICD10:N48", "ICD10:N49", "ICD10:N50", "ICD10:N50.9", "ICD10:N51", "ICD9:600-608.99", "ICD9:608.9", "MESH:D005832", "MONDO:0003150", "NCIT:C27019", "SCTID:363194005"; "Male reproductive system disease", "Male reproductive system disorder", "disease of male reproductive system", "disease or disorder of male reproductive system", "disorder of Male reproductive system", "disorder of male reproductive system", "male reproductive disease", "male reproductive system disease", "male reproductive system disease or disorder"; "disorder of male reproductive system"; "EFO:0009555"; rdfs:label "male reproductive system disease" . _:7d34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the male reproductive system."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the male reproductive system."; "MONDO:DesignPattern" . _:7d37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363194005"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:48"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:48"; "MONDO:equivalentTo" . _:7d3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N40.N51"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N40.N51"; "MONDO:equivalentTo" . _:7d3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N50.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N50.9"; "DOID:48" . _:7d45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N51"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:600-608.99"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:600-608.99"; "DOID:48" . _:7d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:608.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:608.9"; "DOID:48" . _:7d50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005832"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005832"; "DOID:48", "MONDO:equivalentTo" . _:7d54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0003150"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27019"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27019"; "MONDO:equivalentTo" . _:7d58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363194005"; "MONDO:equivalentTo" . _:7d59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male reproductive system disease"; "NCIT:C27019" . _:7d5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male reproductive system disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male reproductive system disorder"; "NCIT:C27019" . _:7d5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of male reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of male reproductive system"; "MONDO:patterns/location_top" . _:7d64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder of male reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of Male reproductive system"; "NCIT:C27019" . _:7d66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of male reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of male reproductive system"; "MONDO:patterns/location_top" . _:7d68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive disease"; "DOID:48" . _:7d6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system disease"; "MONDO:patterns/location" . _:7d6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system disease"; rdfs:comment "preferred label from MONDO" . _:7d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system disease or disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male reproductive system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7d6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of male reproductive system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Abnormal levels of minerals in the blood."; ; "ICD10:E83", "ICD9:275.8", "ICD9:275.9", "MONDO:0000226", "SCTID:45744005"; "disease of mineral metabolism", "disorder of mineral metabolism", "mineral metabolism disease"; "EFO:0009556"; rdfs:label "mineral metabolism disease" . _:7d70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormal levels of minerals in the blood."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83"; "MONDO:equivalentTo" . _:7d73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.8"; "MONDO:relatedTo", "i2s" . _:7d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.9"; "MONDO:equivalentTo", "i2s" . _:7d75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0000226"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:45744005"; "MONDO:equivalentTo" . _:7d77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of mineral metabolism"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of mineral metabolism"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mineral metabolism disease"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disease that involves the renal tubule."; , ; "SCTID:95568003"; "ICD10:N16", "ICD10:N25", "ICD9:588.89", "MONDO:0021568", "SCTID:95568003", "UMLS:C0151747"; "disease of renal tubule", "disease or disorder of renal tubule", "disorder of renal tubule", "renal tubular disease", "renal tubular disorder", "renal tubule disease", "renal tubule disease or disorder"; "disorder of renal tubule"; "EFO:0009566"; rdfs:label "renal tubule disease" . _:7d7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the renal tubule."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the renal tubule."; "MONDO:patterns/location" . _:7d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95568003"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.89"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.89"; "MONDO:relatedTo", "i2s" . _:7d88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0021568"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95568003"; "MONDO:equivalentTo" . _:7d8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0151747"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0151747"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:7d91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of renal tubule"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of renal tubule"; "MONDO:patterns/location_top" . _:7d94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder of renal tubule"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal tubule"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal tubule"; "MONDO:patterns/location_top" . _:7d9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7da1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular disease"; "MONDO:DesignPattern" . _:7da2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7da3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular disorder"; "MONDO:DesignPattern" . _:7da4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubule disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7da5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubule disease"; "MONDO:patterns/location" . _:7da6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubule disease"; rdfs:comment "preferred label from MONDO" . _:7da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubule disease or disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7da8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubule disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7dafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal tubule"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Blockage of the normal flow of contents of the urinary tract."; , , ; , , , , ; "COHD:194406", "SCTID:7163005"; "COHD:194406", "DOID:5200", "ICD10:N13", "ICD10:N13.9", "ICD9:599.6", "ICD9:599.60", "MONDO:0003330", "NCIT:C3675", "SCTID:7163005", "UMLS:C0178879"; "obstructive uropathy", "urinary obstruction", "urinary tract obstruction"; "EFO:0009571"; rdfs:label "urinary tract obstruction" . _:7db6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blockage of the normal flow of contents of the urinary tract."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7db7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blockage of the normal flow of contents of the urinary tract."; "NCIT:P378" . _:7db8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:194406"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7db9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:7163005"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:194406"; "MONDO:equivalentTo" . _:7dbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5200"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5200"; "MONDO:equivalentTo" . _:7dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N13"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N13.9"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N13.9"; "DOID:5200" . _:7dc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:599.6"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:599.6"; "DOID:5200", "MONDO:equivalentTo", "i2s" . _:7dc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:599.60"; "DOID:5200", "MONDO:equivalentTo", "i2s" . _:7dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0003330"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3675"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3675"; "DOID:5200", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:7dcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:7163005"; "DOID:5200", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:7dccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0178879"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0178879"; "DOID:5200", "MONDO:equivalentTo", "NCIT:C3675" . _:7dced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obstructive uropathy"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obstructive uropathy"; "DOID:5200", "NCIT:C3675" . _:7dd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary obstruction"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7dd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary obstruction"; "DOID:5200", "ICD9CM_2006:599.6" . _:7dd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary tract obstruction"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disease involving the prostate gland.", "A disease involving the prostate gland. [ MONDO:DesignPattern ]"; ; , , , , ; "COHD:196734", "DOID:47", "ICD10:N42", "ICD10:N42.9", "ICD9:602.8", "ICD9:602.9", "MESH:D011469", "MONDO:0003105", "NCIT:C26865", "SCTID:30281009", "UMLS:C0033575"; "disease of prostate gland", "disease or disorder of prostate gland", "disorder of prostate gland", "prostate disease", "prostate disorder", "prostate gland disease", "prostate gland disease or disorder"; "disorder of prostate gland"; "EFO:0009602"; rdfs:label "prostate disease" . _:7e01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the prostate gland."; "MONDO:DesignPattern" . _:7e03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:196734"; "MONDO:equivalentTo" . _:7e0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:47"; "MONDO:equivalentTo" . _:7e0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N42.9"; "DOID:47" . _:7e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:602.8"; "MONDO:relatedTo", "i2s" . _:7e0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:602.9"; "DOID:47", "MONDO:equivalentTo", "i2s" . _:7e10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011469"; "DOID:47", "MONDO:equivalentTo" . _:7e11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26865"; "DOID:47", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:7e14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30281009"; "DOID:47", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/11.00" . _:7e19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033575"; "DOID:47", "MONDO:equivalentTo", "NCIT:C26865" . _:7e1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of prostate gland"; "MONDO:patterns/location_top" . _:7e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of prostate gland"; "MONDO:patterns/location_top" . _:7e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate disease"; "NCIT:C26865" . _:7e1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate disease"; rdfs:comment "preferred label from MONDO" . _:7e21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate disorder"; "NCIT:C26865" . _:7e23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate gland disease"; "MONDO:patterns/location" . _:7e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate gland disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7e26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of prostate gland"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.", "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. [ NCIT:C26842 ]"; , , ; , , , ; "DOID:26", "ICD10:E16", "ICD10:K86", "ICD10:K86.8", "ICD9:577.8", "ICD9:577.9", "MESH:D010182", "MONDO:0002356", "NCIT:C26842", "SCTID:3855007"; "disease of pancreas", "disease or disorder of pancreas", "disorder of pancreas", "pancreas disease", "pancreas disease or disorder", "pancreas problem", "pancreatic disorder"; "disease, pancreatic", "diseases, pancreatic", "disorder of pancreas", "pancreatic disease"; "EFO:0009605"; rdfs:label "pancreas disease" . _:7e2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms."; "NCIT:C26842" . _:7e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. [ NCIT:C26842 ]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7e2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:26"; "MONDO:equivalentTo" . _:7e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K86.8"; "DOID:26" . _:7e33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:577.8"; "DOID:26", "linkedlifedata" . _:7e34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:577.9"; "linkedlifedata" . _:7e35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010182"; "MONDO:equivalentTo" . _:7e36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0002356"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7e37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26842"; "MONDO:equivalentTo" . _:7e3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:3855007"; "MONDO:equivalentTo" . _:7e3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of pancreas"; "MONDO:patterns/location_top" . _:7e3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of pancreas"; "MONDO:patterns/location_top" . _:7e40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas disease"; "MONDO:patterns/location" . _:7e43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas disease"; rdfs:comment "preferred label from MONDO" . _:7e45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7e46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas problem"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7e47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic disorder"; "NCIT:C26842" . _:7e48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, pancreatic"; "MESH:D010182" . _:7e49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, pancreatic"; "MESH:D010182" . _:7e4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of pancreas"; "MONDO:patterns/location_top" . _:7e4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic disease"; "MESH:D010182" . a owl:Class; rdfs:subClassOf ; "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.", "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIT:P378 ]"; ; , , , , ; "DOID:4448", "MESH:D008268", "MONDO:0003004", "NCIT:C123330", "SCTID:422338006", "UMLS:C0024437"; "macula lutea retinal degeneration", "macula retinal degeneration", "macular degeneration", "macular degeneration of retina", "retinal degeneration of macula lutea"; "EFO:0009606"; rdfs:label "macular degeneration" . _:7e56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."; "NCIT:P378" . _:7e57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIT:P378 ]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7e58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4448"; "MONDO:equivalentTo" . _:7e59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008268"; "DOID:4448", "MONDO:equivalentTo" . _:7e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0003004"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7e5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123330"; "DOID:4448", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.86/0.09" . _:7e5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:422338006"; "DOID:4448", "MONDO:equivalentTo" . _:7e5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024437"; "DOID:4448", "MONDO:equivalentTo", "NCIT:C123330" . _:7e5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macula lutea retinal degeneration"; "MONDO:patterns/location" . _:7e5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macula retinal degeneration"; "MONDO:patterns/location" . _:7e62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macular degeneration"; rdfs:comment "preferred label from MONDO" . _:7e63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macular degeneration of retina"; "DOID:4448", "MTHICD9_2006:362.50" . _:7e66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal degeneration of macula lutea"; "MONDO:design_pattern" . a owl:Class; rdfs:subClassOf , ; "A disease involving the pituitary gland.", "A disease involving the pituitary gland. [ MONDO:DesignPattern ]"; , ; , , , ; "COHD:23986", "DOID:53", "ICD10:E23", "ICD9:253.1", "ICD9:253.8", "ICD9:253.9", "MESH:D010900", "MONDO:0003381", "NCIT:C26854", "SCTID:399244003"; "disease of pituitary gland", "disease or disorder of pituitary gland", "disorder of pituitary gland", "pituitary disease", "pituitary gland disease", "pituitary gland disease or disorder", "pituitary gland disorder"; "disorder of pituitary gland"; "EFO:0009607"; rdfs:label "pituitary gland disease" . _:7e6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the pituitary gland."; "MONDO:DesignPattern" . _:7e71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the pituitary gland. [ MONDO:DesignPattern ]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7e73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:23986"; "MONDO:equivalentTo" . _:7e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:53"; "MONDO:equivalentTo" . _:7e75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7e77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.1"; "DOID:53" . _:7e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.8"; "MONDO:relatedTo", "i2s" . _:7e7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.9"; "MONDO:relatedTo", "i2s" . _:7e7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010900"; "MONDO:equivalentTo", "MONDO:ontobio" . _:7e7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0003381"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7e80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26854"; "MONDO:equivalentTo" . _:7e82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:399244003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.54" . _:7e84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of pituitary gland"; "MONDO:patterns/location_top" . _:7e86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of pituitary gland"; "MONDO:patterns/location_top" . _:7e89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary disease"; "DOID:53" . _:7e8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary gland disease"; "MONDO:patterns/location", "NCIT:C26854" . _:7e8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary gland disease"; rdfs:comment "preferred label from MONDO" . _:7e90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary gland disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7e92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary gland disorder"; "NCIT:C26854" . _:7e94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of pituitary gland"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease that involves the genitourinary system.", "A disease that involves the genitourinary system. [database_cross_reference: MONDO:patterns/location]"; , ; "ICD10:N00.N99", "ICD10:N99", "MONDO:0021145", "SCTID:42030000", "UMLS:C0080276"; "disease of genitourinary system", "disease or disorder of genitourinary system", "disorder of genitourinary system", "disorder of the genitourinary system", "genitourinary system disease", "genitourinary system disease or disorder"; "disorder of genitourinary system", "syndrome of the genitourinary system", "urogenital disease", "urogenital disorder"; "EFO:0009663"; rdfs:label "disease of genitourinary system" . _:7e9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the genitourinary system."; "MONDO:patterns/location" . _:7e9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the genitourinary system. [database_cross_reference: MONDO:patterns/location]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N00.N99"; "MONDO:equivalentTo" . _:7ea2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N99"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0021145"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42030000"; "MONDO:equivalentTo" . _:7ea7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0080276"; "MONDO:equivalentTo" . _:7ea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of genitourinary system"; "MONDO:patterns/location_top" . _:7ea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of genitourinary system"; rdfs:comment "preferred label from MONDO" . _:7eaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of genitourinary system"; "MONDO:patterns/location_top" . _:7eabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genitourinary system disease"; "MONDO:patterns/location" . _:7eacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genitourinary system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of genitourinary system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease that involves the orbital region.", "A disease that involves the orbital region. [database_cross_reference: MONDO:patterns/location]"; , , , ; , ; ; "DOID:1492", "ICD10:H00.H59", "ICD10:H05", "ICD10:H35.00", "ICD9:362.10", "MONDO:0002022", "SCTID:371409005"; "disease of orbital region", "disease or disorder of orbital region", "disorder of eye region", "disorder of orbital region", "orbital region disease", "orbital region disease or disorder"; "disorder of orbital region", "eye and adnexa disease", "ophthalmological disorder"; "EFO:0009664"; rdfs:label "disease of orbital region" . _:7eb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the orbital region."; "MONDO:patterns/location" . _:7eb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that involves the orbital region. [database_cross_reference: MONDO:patterns/location]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:1492" . _:7eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1492"; "MONDO:equivalentTo" . _:7ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H00.H59"; "MONDO:equivalentTo" . _:7ebed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H05"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ebfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.00"; "DOID:1492" . _:7ec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.10"; "DOID:1492" . _:7ec5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0002022"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ec6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:371409005"; "MONDO:equivalentTo" . _:7ec8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of orbital region"; "MONDO:patterns/location_top" . _:7ec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of orbital region"; rdfs:comment "preferred label from MONDO" . _:7ecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of orbital region"; "MONDO:patterns/location_top" . _:7eccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orbital region disease"; "MONDO:design_pattern" . _:7eced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orbital region disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7ecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of orbital region"; "MONDO:patterns/location_top" . _:7ed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye and adnexa disease"; "DOID:1492" . a owl:Class; rdfs:subClassOf , ; "A disease involving the gingiva.", "A disease involving the gingiva. [database_cross_reference: MONDO:patterns/location_top]"; , ; , , , ; "DOID:1483", "ICD10:K06", "MESH:D005882", "MONDO:0002021", "SCTID:18718003", "UMLS:C0017563"; "disease of gingiva", "disease or disorder of gingiva", "disorder of gingiva", "gingiva disease", "gingiva disease or disorder", "gingival disease"; "disorder of gingiva"; "EFO:0009670"; rdfs:label "gingival disease" . _:7ed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the gingiva."; "MONDO:patterns/location_top" . _:7ed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the gingiva. [database_cross_reference: MONDO:patterns/location_top]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ed3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1483"; "MONDO:equivalentTo" . _:7ed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K06"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ed5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005882"; "DOID:1483", "MONDO:equivalentTo" . _:7ed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0002021"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:18718003"; "DOID:1483", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:7ed8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017563"; "DOID:1483", "MONDO:equivalentTo" . _:7ed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of gingiva"; "MONDO:patterns/location_top" . _:7edad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of gingiva"; "MONDO:patterns/location_top" . _:7edbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gingiva disease"; "MONDO:patterns/location" . _:7edcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gingiva disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7eddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gingival disease"; rdfs:comment "preferred label from MONDO" . _:7eded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of gingiva"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS.", "Cerebellar ataxia that is transmitted from parent to child."; ; , , , , ; "DOID:0050951", "GARD:0006614", "GARD:0010748", "ICD10:G11", "MESH:C531684", "MONDO:0000557", "NCIT:C140268", "Orphanet:183518", "SCTID:763597000", "Wikipedia:Ataxia#Hereditary_ataxias"; "hereditary ataxia", "hereditary cerebellar ataxia", "rare hereditary ataxia"; "SCA"; "EFO:0009671"; , ; rdfs:label "hereditary ataxia"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia"^^xsd:anyURI . _:7ee4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ee6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050951"; "MONDO:equivalentTo" . _:7ee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006614"; "MONDO:equivalentTo" . _:7eead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010748"; "MONDO:equivalentTo" . _:7eecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ef2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11"; "MONDO:equivalentTo" . _:7ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C531684"; "MONDO:equivalentTo" . _:7ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0000557"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7ef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C140268"; "MONDO:equivalentTo" . _:7efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:183518"; "MONDO:equivalentTo" . _:7effd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:763597000"; "MONDO:equivalentTo" . _:7f00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Ataxia#Hereditary_ataxias"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary ataxia"; rdfs:comment "preferred label from MONDO" . _:7f04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary cerebellar ataxia"; "NCIT:C140268" . _:7f05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hereditary ataxia"; "MONDO:0015956", "Orphanet:183518" . _:7f07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCA"; "GARD:0010748" . _:7f09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006614" . _:7f0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183518" . _:7f0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia"^^xsd:anyURI; "GARD:0006614" . a owl:Class; rdfs:subClassOf ; "A disease involving the lens of camera-type eye.", "A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern]"; , ; , , , , ; "DOID:110", "ICD10:H25-H28", "ICD10:H27", "ICD10:H27.9", "ICD9:379.39", "MESH:D007905", "MONDO:0001176", "NCIT:C26812", "SCTID:10810001", "UMLS:C0023308"; "disease of lens of camera-type eye", "disease or disorder of lens of camera-type eye", "disorder of lens of camera-type eye", "lens disease", "lens disorder", "lens of camera-type eye disease", "lens of camera-type eye disease or disorder"; "disorder of lens of camera-type eye"; "EFO:0009674"; rdfs:comment "Includes cataracts, lens subluxation and aphakia"; rdfs:label "lens disease" . _:7f1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the lens of camera-type eye."; "MONDO:DesignPattern" . _:7f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:110"; "MONDO:equivalentTo" . _:7f21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H25-H28"; "DOID:110" . _:7f27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H27"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H27.9"; "DOID:110" . _:7f2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:379.39"; "MONDO:relatedTo", "i2s" . _:7f2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007905"; "DOID:110", "MONDO:equivalentTo", "MONDO:ontobio" . _:7f2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0001176"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26812"; "DOID:110", "MONDO:equivalentTo" . _:7f2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:10810001"; "DOID:110", "MONDO:equivalentTo" . _:7f4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023308"; "DOID:110", "MONDO:equivalentTo", "NCIT:C26812" . _:7f4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of lens of camera-type eye"; "MONDO:patterns/location_top" . _:7f4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lens of camera-type eye"; "MONDO:patterns/location_top" . _:7f51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lens disease"; rdfs:comment "preferred label from MONDO" . _:7f52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lens disorder"; "NCIT:C26812" . _:7f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lens of camera-type eye disease"; "MONDO:patterns/location" . _:7f55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lens of camera-type eye disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7f56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lens of camera-type eye"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , , ; "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.", "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. [NCIT:C7570]"; ; , , ; "COHD:4271013", "EFO:0000625", "ICD10:D22", "MESH:D009506", "MONDO:0005073", "NCIT:C7570", "SCTID:400096001", "Wikipedia:Nevus"; "melanocytic Nevus", "melanocytic nevus", "melanotic Nevus", "mole", "mole of skin", "nevus"; "EFO:0009675"; rdfs:label "melanocytic nevus" . _:7f5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin."; "NCIT:C7570" . _:7f60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. [NCIT:C7570]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4271013"; "MONDO:equivalentTo" . _:7f62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0000625"; "MONDO:equivalentTo" . _:7f63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D22"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009506"; "EFO:0000625", "MONDO:equivalentTo", "MONDO:ontobio" . _:7f68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0005073"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7570"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7570"; "MONDO:equivalentTo" . _:7f6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:400096001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.66/1.17" . _:7f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Nevus"; "EFO:0000625" . _:7f6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanocytic Nevus"; "NCIT:C7570" . _:7f70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanocytic nevus"; rdfs:comment "preferred label from MONDO" . _:7f72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanotic Nevus"; "NCIT:C7570" . _:7f74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mole"; "NCIT:C7570" . _:7f76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mole of skin"; "NCIT:C7570" . _:7f79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nevus"; "NCIT:C7570" . a owl:Class; rdfs:subClassOf ; "A disease involving the musculoskeletal system.", "A disease involving the musculoskeletal system. [database_cross_reference: MONDO:DesignPattern]"; , , , ; , , , , ; "DOID:17", "ICD10:M53", "ICD10:M95", "ICD10:M96", "ICD9:729.99", "MESH:D009140", "MONDO:0002081", "NCIT:C107377", "SCTID:928000", "UMLS:C0026857"; "disease of musculoskeletal system", "disease or disorder of musculoskeletal system", "disorder of musculoskeletal system", "musculoskeletal disease", "musculoskeletal system disease", "musculoskeletal system disease or disorder", "musculoskeletal system disorder"; "disorder of musculoskeletal system", "musculoskeletal disorder"; "EFO:0009676"; rdfs:label "musculoskeletal system disease" . _:7f89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the musculoskeletal system."; "MONDO:DesignPattern" . _:7f8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the musculoskeletal system. [database_cross_reference: MONDO:DesignPattern]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:17"; "MONDO:equivalentTo" . _:7f90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:729.99"; "MONDO:relatedTo", "i2s" . _:7f91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009140"; "DOID:17", "MONDO:equivalentTo", "MONDO:ontobio" . _:7f92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0002081"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7f93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C107377"; "DOID:17", "MONDO:equivalentTo" . _:7f95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:928000"; "DOID:17", "MONDO:equivalentTo" . _:7f96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026857"; "DOID:17", "MONDO:equivalentTo" . _:7f97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of musculoskeletal system"; "MONDO:patterns/location_top" . _:7f98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of musculoskeletal system"; "MONDO:patterns/location_top" . _:7f99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal disease"; "DOID:17" . _:7f9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal system disease"; "MONDO:patterns/location" . _:7f9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal system disease"; rdfs:comment "preferred label from MONDO" . _:7f9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7f9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal system disorder"; "NCIT:C107377" . _:7fa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of musculoskeletal system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.", "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. [database_cross_reference: NCIT:C35169]"; ; , , ; "ICD10:O02", "ICD10:O26", "ICD10:O32", "ICD10:O33", "ICD10:O34", "ICD10:O35", "ICD10:O36", "ICD10:O63", "ICD10:O71", "ICD10:O99", "MESH:D011248", "MONDO:0024575", "NCIT:C35169", "SCTID:173300003"; "complication of pregnancy or childbirth", "disorder of pregnancy", "disorder of pregnancy, childbirth, or puerperium", "pregnancy disease", "pregnancy disorder"; "Complications, pregnancy", "complication, pregnancy", "pregnancy complication"; "EFO:0009682"; rdfs:label "pregnancy disorder" . _:7faad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor."; "NCIT:C35169" . _:7fabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. [database_cross_reference: NCIT:C35169]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7faed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:O99"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7fafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011248"; "MONDO:equivalentTo" . _:7fb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0024575"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7fb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35169"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7fb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35169"; "MONDO:equivalentTo" . _:7fb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:173300003"; "MONDO:equivalentTo" . _:7fb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of pregnancy"; "NCIT:C35169" . _:7fb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pregnancy disorder"; "NCIT:C35169" . _:7fbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pregnancy disorder"; rdfs:comment "preferred label from MONDO" . _:7fbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Complications, pregnancy"; "MESH:D011248" . _:7fbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complication, pregnancy"; "MESH:D011248" . _:7fbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pregnancy complication"; "MESH:D011248" . a owl:Class; rdfs:subClassOf ; "A disease involving the renal system.", "A disease involving the renal system. [database_cross_reference: MONDO:DesignPattern]"; ; , , , , ; "DOID:18", "ICD10:N28", "ICD10:N39", "ICD9:V47.4", "MESH:D014570", "MONDO:0002118", "NCIT:C3430", "SCTID:128606002", "UMLS:C1335051"; "disease of renal system", "disease or disorder of renal system", "disorder of renal system", "disorder of the urinary system", "disorder of urinary system", "non-neoplastic urinary tract disease", "renal disease", "renal system disease", "renal system disease or disorder", "urinary system disease", "urinary tract disease", "urinary tract disorder", "urologic disorder", "urological disorders"; "disease, urinary tract", "disease, urologic", "disease, urological", "diseases, urinary tract", "diseases, urologic", "diseases, urological", "disorder of renal system", "urinary disease", "urinary system disorder", "urinary tract diseases", "urologic disease", "urological disease", "urological diseases", "urological disorder"; "EFO:0009690"; rdfs:label "urinary system disease" . _:7fc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the renal system."; "MONDO:DesignPattern" . _:7fc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the renal system. [database_cross_reference: MONDO:DesignPattern]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7fc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:18"; "MONDO:equivalentTo" . _:7fc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N28"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7fc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:V47.4"; "MONDO:relatedTo", "i2s" . _:7fc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014570"; "MONDO:equivalentTo", "MONDO:ontobio" . _:7fc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0002118"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7fcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3430"; "MONDO:equivalentTo" . _:7fcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128606002"; "MONDO:equivalentTo" . _:7fced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1335051"; "DOID:18", "MONDO:equivalentTo" . _:7fd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of renal system"; "MONDO:patterns/location_top" . _:7fd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal system"; "MONDO:patterns/location_top" . _:7fd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of urinary system"; "NCIT:C3430" . _:7fdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-neoplastic urinary tract disease"; "DOID:18", "NCIT:C27599" . _:7fddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal disease"; "DOID:18" . _:7fdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal system disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:7fe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal system disease"; "MONDO:patterns/location" . _:7fe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:7fe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary system disease"; rdfs:comment "preferred label from MONDO" . _:7fead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary tract disease"; "DOID:18", "MESH:D014570" . _:7fecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary tract disorder"; "NCIT:C3430" . _:7feed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urologic disorder"; "NCIT:C3430" . _:7ff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urological disorders"; "NCIT:C3430" . _:7ff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, urinary tract"; "MESH:D014570" . _:7ff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, urologic"; "MESH:D014570" . _:7ff5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, urological"; "MESH:D014570" . _:7ff6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, urinary tract"; "MESH:D014570" . _:7ff7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, urologic"; "MESH:D014570" . _:7ff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, urological"; "MESH:D014570" . _:7ff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal system"; "MONDO:patterns/location_top" . _:7ffad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary disease"; "DOID:18" . _:7ffbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary tract diseases"; "MESH:D014570" . _:7ffcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urologic disease"; "MESH:D014570" . _:7ffdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urological disease"; "MESH:D014570" . _:7ffed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urological diseases"; "MESH:D014570" . a owl:Class; rdfs:subClassOf ; "A disease persisting for a long time or constantly recurring."; rdfs:label "chronic disease" . a owl:Class; rdfs:subClassOf ; "A disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ]", "A disease involving a pathogenic inflammatory response in the anatomical structure."; , , ; "ICD9:799.89", "MONDO:0021166", "NCIT:C93210", "SCTID:128139000", "UMLS:C1290884"; "anatomical structure inflammation", "inflammation of anatomical structure", "inflammatory disease", "inflammatory disorder"; "EFO:0009903"; rdfs:label "inflammatory disease" . _:8004d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving a pathogenic inflammatory response in the anatomical structure."; "MONDO:patterns/inflammatory_disease_by_site" . _:8007d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:799.89"; "MONDO:relatedTo", "i2s" . _:8009d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C93210"; "MONDO:equivalentTo" . _:800ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128139000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.92/0.38" . _:800dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290884"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C93210" . _:8012d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anatomical structure inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:8015d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory disease"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities."; "Baron Koylass"; "HP:0006528", "SNOMEDCT_US:413839001", "UMLS:C0746102"; rdfs:label "chronic lung disease" . a owl:Class; rdfs:subClassOf , ; "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic", "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic."; "Laura Huerta"; , ; , ; ; "COHD:435517", "HP:0001941", "ICD9:276.2", "MONDO:0006022", "MSH:D000138", "NCIt:C83504", "SCTID:51387008", "SNOMEDCT:51387008", "UMLS:C0001122"; "acidosis", "acidosis disorder"; "EFO:1000014"; rdfs:label "acidosis" . _:801dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:801fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic."; "NCIT:P378" . _:8021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8023d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "EFO:1000014" . _:8025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:435517"; "MONDO:equivalentTo" . _:8028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001941"; "MONDO:otherHierarchy", "ontobio" . _:802ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:276.2"; "EFO:1000014", "MONDO:equivalentTo", "i2s" . _:8035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C83504"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:51387008"; "EFO:1000014", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.24" . _:8039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001122"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:803dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acidosis"; "MONDO:ambiguous" . _:803fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acidosis disorder"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.", "Autosomal recessive form of disease."; "Laura Huerta"; , , ; "DOID:0050737", "ICD9:758.5", "MONDO:0006025", "SCTID:85995004", "UMLS:C0265388"; "autosomal recessive disease", "autosomal recessive disease or disorder", "autosomal recessive hereditary disease", "autosomal recessive hereditary disorder", "autosomal recessive inherited disease", "autosomal recessive inherited disorder", "disease or disorder, autosomal recessive", "disease, autosomal recessive"; "recessive hereditary disorder (autosomal)"; "EFO:1000017"; rdfs:comment "https://www.nlm.nih.gov/medlineplus/ency/article/002052.htm"; rdfs:label "autosomal recessive disease" . _:804cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:804ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive form of disease."; "MONDO:patterns/autosomal_recessive" . _:8050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050737"; "MONDO:equivalentTo" . _:8054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.5"; "MONDO:relatedTo", "i2s" . _:8055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:85995004"; "MONDO:equivalentTo" . _:8056d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265388"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:8057d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive disease"; rdfs:comment "preferred label from MONDO" . _:8058d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive disease or disorder"; "MONDO:design_pattern" . _:8059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease or disorder, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:805ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:805bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "https://www.nlm.nih.gov/medlineplus/ency/article/002052.htm"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system", "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system."; "Laura Huerta"; , ; "MONDO:0006054", "NCIT:C3674", "NCIt:C3674", "UMLS:C0178830"; "neoplasm of reproductive system", "neoplasm of the reproductive system", "reproductive neoplasm", "reproductive system neoplasm", "reproductive system neoplasm (disease)", "reproductive system tumor", "reproductive tumor", "tumor of reproductive system", "tumor of the reproductive system"; "EFO:1000051"; rdfs:label "reproductive system neoplasm" . _:805ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system."; "NCIT:C3674" . _:8061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8063d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3674"; "EFO:1000051", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/12.43" . _:8065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C3674"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8067d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0178830"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0178830"; "EFO:1000051", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3674" . _:806bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of reproductive system"; "MONDO:patterns/neoplasm", "NCIT:C3674" . _:806cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the reproductive system"; "NCIT:C3674" . _:806dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive neoplasm"; "NCIT:C3674" . _:806ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive system neoplasm"; "NCIT:C3674" . _:8070d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive system neoplasm"; rdfs:comment "preferred label from MONDO" . _:8072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive system neoplasm (disease)"; "MONDO:patterns/location" . _:8074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive system tumor"; "MONDO:patterns/neoplasm", "NCIT:C3674" . _:8076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive tumor"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reproductive tumor"; "NCIT:C3674" . _:807ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of reproductive system"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:807bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of reproductive system"; "MONDO:patterns/neoplasm", "NCIT:C3674" . _:807dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the reproductive system"; "NCIT:C3674" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia."; ; ; "MONDO:0006130", "NCIT:C9293", "NCIt:C9293"; "CNS neoplasm", "CNS tumor", "brain/spinal cord tumor", "central nervous system neoplasm", "central nervous system neoplasm (disease)", "central nervous system tumor", "neoplasm of CNS", "neoplasm of central nervous system", "neoplasm of the central nervous system", "tumor of CNS", "tumor of central nervous system", "tumor of the CNS", "tumor of the central nervous system"; "EFO:1000158"; rdfs:label "Central Nervous System Neoplasm" . _:808ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:808fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia."; "NCIT:C9293" . _:8091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9293"; "EFO:1000158", "MONDO:equivalentTo" . _:8093d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C9293"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8095d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS neoplasm"; "NCIT:C9293" . _:8097d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNS tumor"; "NCIT:C9293" . _:8099d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain/spinal cord tumor"; "NCIT:C9293" . _:809cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system neoplasm"; "NCIT:C9293" . _:809ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system neoplasm"; rdfs:comment "preferred label from MONDO" . _:80a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system neoplasm (disease)"; "MONDO:patterns/location" . _:80a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system tumor"; "MONDO:patterns/neoplasm", "NCIT:C9293" . _:80a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of CNS"; "NCIT:C9293" . _:80a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of central nervous system"; "MONDO:patterns/neoplasm", "NCIT:C9293" . _:80a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the central nervous system"; "NCIT:C9293" . _:80aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of CNS"; "NCIT:C9293" . _:80acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of central nervous system"; "MONDO:patterns/neoplasm", "NCIT:C9293" . _:80b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the CNS"; "NCIT:C9293" . _:80b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the central nervous system"; "NCIT:C9293" . a owl:Class; rdfs:subClassOf ; "Any disorder of the conjunctiva.", "Any disorder of the conjunctiva. "; ; ; "ICD10:H11", "ICD10:H13", "MONDO:0002932", "MONDO:0006170", "NCIT:C27605", "NCIt:C27605"; "conjunctiva disease", "conjunctiva disease or disorder", "conjunctival disease", "conjunctival disorder", "disease of conjunctiva", "disease or disorder of conjunctiva", "disorder of conjunctiva"; "EFO:1000203"; rdfs:label "Conjunctival Disorder" . _:80bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disorder of the conjunctiva."; "NCIT:C27605" . _:80c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disorder of the conjunctiva. "; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:80c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0002932"; "MONDO:obsoleteEquivalent" . _:80c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27605"; "EFO:1000203", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.79/0.16" . _:80c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C27605"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:80cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctiva disease"; "MONDO:patterns/location" . _:80cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctiva disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:80ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival disease"; "NCIT:C27605" . _:80cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival disorder"; "NCIT:C27605" . _:80cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival disorder"; rdfs:comment "preferred label from MONDO" . _:80d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of conjunctiva"; "MONDO:patterns/location_top" . _:80d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of conjunctiva"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma."; , , ; "true"; "DOID:0050922", "HP:0002672", "MONDO:0006181", "NCIT:C96963", "NCIt:C96963", "UMLS:C0151544"; "carcinoma of digestive system", "carcinoma of the gastrointestinal system", "digestive system carcinoma", "gastrointestinal carcinoma", "gastrointestinal carcinoma (disease)", "gastrointestinal system carcinoma"; "EFO:1000218"; rdfs:label "Digestive System Carcinoma" . _:80dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:80dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma."; "NCIT:C96963" . _:80dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050922"; "MONDO:equivalentTo" . _:80ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002672"; "MONDO:otherHierarchy", "ontobio" . _:80ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C96963"; "EFO:1000218", "MONDO:equivalentTo", "exact-label-match" . _:80e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C96963"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:80e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0151544"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C96963" . _:80e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of digestive system"; "MONDO:patterns/carcinoma" . _:80e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoma of the gastrointestinal system"; "NCIT:C96963" . _:80e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system carcinoma"; "NCIT:C96963" . _:80ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive system carcinoma"; rdfs:comment "preferred label from MONDO" . _:80ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal carcinoma"; "MONDO:ambiguous" . _:80edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal carcinoma (disease)"; "MONDO:0000537" . _:80efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal system carcinoma"; "NCIT:C96963" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung."; , , ; , , , ; "DOID:154", "EFO:0007373", "ICDO:8940/3", "MESH:D018198", "MONDO:0005853", "NCIT:C3729", "NCIt:C3729", "UMLS:C0206625"; "malignant mixed cancer", "malignant mixed neoplasm", "malignant mixed tumor", "mixed neoplasm, malignant", "mixed tumor", "mixed tumor, malignant", "mixed tumor, malignant (morphologic abnormality)", "mixed tumor, malignant, NOS (morphologic abnormality)", "tumor, mixed, malignant"; "malignant mixed tumors", "mixed cell type cancer", "mixed neoplasm", "mixed tumors, malignant", "tumor, malignant mixed", "tumors, malignant mixed"; "EFO:1000356"; rdfs:label "Malignant Mixed Neoplasm" . _:80f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:80fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung."; "NCIT:C3729" . _:80fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:154"; "EFO:0007373", "MONDO:equivalentTo" . _:80ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0007373"; "MONDO:equivalentTo" . _:8100d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8940/3"; "NCIT:C3729" . _:8101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018198"; "DOID:154", "EFO:0007373", "MONDO:equivalentTo", "MONDO:ontobio" . _:8104d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3729"; "EFO:1000356", "MONDO:equivalentTo" . _:8106d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C3729"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8107d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206625"; "DOID:154", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C3729" . _:8109d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant mixed cancer"; "DOID:154" . _:810ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant mixed neoplasm"; "DOID:154", "MONDO:0006293", "NCIT:C3729" . _:810bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant mixed neoplasm"; rdfs:comment "preferred label from MONDO" . _:810dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant mixed tumor"; "DOID:154", "MESH:D018198", "NCIT:C3729" . _:810ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed neoplasm, malignant"; "MONDO:patterns/malignant" . _:8110d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed tumor"; "DOID:154", "NCIT:C6930" . _:8112d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed tumor, malignant"; "DOID:154" . _:8117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed tumor, malignant (morphologic abnormality)"; "DOID:154" . _:8118d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed tumor, malignant, NOS (morphologic abnormality)"; "DOID:154" . _:8119d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor, mixed, malignant"; "NCIT:C3729" . _:811ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant mixed tumors"; "MESH:D018198" . _:811bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed cell type cancer"; "DOID:154" . _:811cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed neoplasm"; "DOID:154" . _:811dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed tumors, malignant"; "MESH:D018198" . _:811ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor, malignant mixed"; "MESH:D018198" . _:811fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumors, malignant mixed"; "MESH:D018198" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the pancreas.", "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003"; , , , , , , , , , , , , , , , , , , ; , ; "DOID:1793", "ICD10:C25.9", "ICD9:157.0", "ICD9:157.1", "ICD9:157.2", "ICD9:157.8", "KEGG:05212", "MONDO:0009831", "NCIT:C9005", "NCIt:C9005"; "Ca body of pancreas", "Ca head of pancreas", "Ca tail of pancreas", "cancer of pancreas", "malignant neoplasm of body of pancreas", "malignant neoplasm of head of pancreas", "malignant neoplasm of pancreas", "malignant neoplasm of tail of pancreas", "malignant neoplasm of the pancreas", "malignant pancreas neoplasm", "malignant pancreatic neoplasm", "pancreas cancer", "pancreas neoplasm", "pancreatic cancer", "pancreatic neoplasm", "pancreatic tumor"; "EFO:1000359"; rdfs:label "Malignant Pancreatic Neoplasm" . _:812dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant neoplasm involving the pancreas."; "MONDO:DesignPattern" . _:812fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8130d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1793"; "MONDO:equivalentTo" . _:8131d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C25.9"; "MONDO:ICD_NOS" . _:8132d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:157.0"; "DOID:1793" . _:8133d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:157.1"; "DOID:1793" . _:8136d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:157.2"; "DOID:1793" . _:8138d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:157.8"; "DOID:1793" . _:8139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05212"; "DOID:1793", "MONDO:equivalentTo" . _:813dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9005"; "MONDO:equivalentTo" . _:8141d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C9005"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ca body of pancreas"; "DOID:1793" . _:8144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ca head of pancreas"; "DOID:1793" . _:8147d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ca tail of pancreas"; "DOID:1793" . _:814bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of pancreas"; "MONDO:patterns/cancer" . _:814ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of body of pancreas"; "DOID:1793" . _:8150d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of head of pancreas"; "DOID:1793" . _:8154d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of pancreas"; "MONDO:patterns/cancer", "NCIT:C9005" . _:8157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of tail of pancreas"; "DOID:1793" . _:8159d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of the pancreas"; "NCIT:C9005" . _:815bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant pancreas neoplasm"; "MONDO:patterns/cancer" . _:815cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant pancreatic neoplasm"; "NCIT:C9005" . _:815ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant pancreatic neoplasm"; rdfs:comment "preferred label from MONDO" . _:815fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas cancer"; "MONDO:patterns/location" . _:8160d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreas neoplasm"; "DOID:1793" . _:8161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic cancer"; "MONDO:DesignPattern" . _:8166d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic neoplasm"; "DOID:1793" . _:8167d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic tumor"; "DOID:1793" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas."; , , ; , , ; "DOID:3996", "ICD10:C64.C68", "ICD10:C68.9", "ICD9:189.9", "MONDO:0006295", "NCIT:C9297", "NCIt:C9297", "SCTID:448233000"; "cancer of renal system", "malignant neoplasm of renal system", "malignant renal system neoplasm", "malignant urinary system neoplasm", "malignant urinary tract neoplasm", "renal system cancer", "urinary system cancer"; "urothelial tract/bladder cancer, NOS", "urothelial/bladder cancer, NOS"; "EFO:1000363"; rdfs:label "Malignant Urinary System Neoplasm" . _:816ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:816fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas."; "NCIT:C9297" . _:8171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3996"; "MONDO:equivalentTo" . _:8173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C64.C68"; "MONDO:equivalentTo" . _:8175d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C68.9"; "DOID:3996" . _:8176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:189.9"; "DOID:3996" . _:8178d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9297"; "EFO:1000363", "MONDO:equivalentTo", "exact-label-match" . _:817bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C9297"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:817dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:448233000"; "DOID:3996", "MONDO:equivalentTo" . _:817fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of renal system"; "MONDO:patterns/cancer" . _:8181d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of renal system"; "MONDO:patterns/cancer" . _:8183d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant renal system neoplasm"; "MONDO:patterns/cancer" . _:8184d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant urinary system neoplasm"; "NCIT:C9297" . _:8186d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant urinary system neoplasm"; rdfs:comment "preferred label from MONDO" . _:818bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant urinary tract neoplasm"; "NCIT:C9297" . _:818cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal system cancer"; "MONDO:patterns/location" . _:818ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urinary system cancer"; "MONDO:0002827" . _:8192d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urothelial tract/bladder cancer, NOS"; "NCIT:C9297"; . _:8193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urothelial/bladder cancer, NOS"; "NCIT:C9297"; . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia."; , ; "MONDO:0006322", "NCIT:C35774", "NCIt:C35774", "UMLS:C3275160"; "non-neoplastic bile duct disorder"; "EFO:1000400"; rdfs:label "Non-Neoplastic Bile Duct Disorder" . _:8197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8199d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia."; "NCIT:C35774" . _:819bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35774"; "EFO:1000400", "MONDO:equivalentTo", "exact-label-match" . _:819dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C35774"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:819ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3275160"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C35774" . _:81a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-neoplastic bile duct disorder"; "NCIT:C35774" . _:81a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-neoplastic bile duct disorder"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.", "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis."; ; , , , ; ; "DOID:2643", "MESH:D054973", "MONDO:0006359", "MSH:D054973", "NCIT:C38150", "NCIt:C38150", "ONCOTREE:PECOMA", "UMLS:C1300127"; "PEComa", "Perivascular Epithelioid Cell Neoplasms", "neoplasm with Perivascular epithelioid cell differentiation", "neoplasm with perivascular epithelioid cell differentiation", "perivascular epithelioid cell tumor", "tumor with perivascular epithelioid cell differentiation"; "perivascular epithelioid cell tumor"; "EFO:1000464"; rdfs:comment "MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002)."; rdfs:label "PEComa" . _:81a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:81abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis."; "NCIT:C38150" . _:81acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:2643" . _:81add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2643"; "EFO:1000464", "MONDO:equivalentTo" . _:81afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D054973"; "DOID:2643", "EFO:1000464", "MONDO:equivalentTo", "MONDO:ontobio" . _:81b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C38150"; "DOID:2643", "EFO:1000464", "MONDO:equivalentTo" . _:81b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C38150"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:81b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:PECOMA"; "MONDO:equivalentTo" . _:81bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1300127"; "DOID:2643", "MONDO:equivalentTo", "NCIT:C38150" . _:81bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEComa"; "DOID:2643" . _:81bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm with perivascular epithelioid cell differentiation"; "DOID:2643", "NCIT:C38150" . _:81c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm with perivascular epithelioid cell differentiation"; rdfs:comment "preferred label from MONDO" . _:81c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor with perivascular epithelioid cell differentiation"; "NCIT:C38150" . _:81c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "perivascular epithelioid cell tumor"; "DOID:2643" . _:81c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002)."; "EFO:1000464" . a owl:Class; rdfs:subClassOf , ; "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms."; , , ; , ; "ICD10:C49", "ICD10:D21", "MONDO:0006424", "NCIT:C3377", "NCIt:C3377", "ONCOTREE:SOFTTISSUE", "SCTID:387837005"; "neoplasm of soft tissue", "neoplasm of the soft tissue", "soft tissue neoplasm", "soft tissue tumor", "soft tissue tumors", "tumor of soft tissue", "tumor of the soft tissue"; "SOFTTISSUE", "soft tissue neoplasm, NOS"; "EFO:1000541"; rdfs:label "Soft Tissue Neoplasm" . _:81cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:81cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms."; "NCIT:C3377" . _:81ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3377"; "EFO:1000541", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.86/0.13" . _:81cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C3377"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:81edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:SOFTTISSUE"; "MONDO:equivalentTo" . _:81eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:387837005"; "MONDO:equivalentTo" . _:81efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of soft tissue"; "NCIT:C3377" . _:81f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the soft tissue"; "NCIT:C3377" . _:81f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "soft tissue neoplasm"; "NCIT:C3377" . _:81f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "soft tissue neoplasm"; rdfs:comment "preferred label from MONDO" . _:81f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "soft tissue tumor"; "NCIT:C3377" . _:81f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "soft tissue tumors"; "NCIT:C3377" . _:81f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of soft tissue"; "NCIT:C3377" . _:81fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the soft tissue"; "NCIT:C3377" . _:81fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOFTTISSUE"; "ONCOTREE:SOFTTISSUE" . _:81ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "soft tissue neoplasm, NOS"; "NCIT:C3377"; . a owl:Class; rdfs:subClassOf ; "A disease involving the thyroid gland.", "A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages."; "Sirarat Sarntivijai"; , , , ; , , , , ; "COHD:141253", "DOID:50", "ICD10:E00-E07", "ICD10:E00.E07", "ICD10:E06", "ICD10:E07", "ICD10:E07.9", "ICD9:240-246.99", "ICD9:246.8", "ICD9:246.9", "MESH:D013959", "MONDO:0003240", "NCIT:C26893", "SCTID:14304000", "UMLS:C0040128", "Wikipedia:Thyroid_disease"; "Thyroiditis", "disease of thyroid gland", "disease or disorder of thyroid gland", "disorder of thyroid gland", "thyroid disease", "thyroid gland disease", "thyroid gland disease or disorder", "thyroid gland diseases", "thyroid gland disorder", "thyroid gland disorders"; "disorder of thyroid gland", "thyroid gland diseases"; "EFO:1000627"; rdfs:label "thyroid disease" . _:820ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the thyroid gland."; "MONDO:DesignPattern" . _:820bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:141253"; "MONDO:equivalentTo" . _:820cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:50"; "MONDO:equivalentTo" . _:820ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E00-E07"; "DOID:50" . _:8210d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E00.E07"; "MONDO:equivalentTo" . _:8213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E07.9"; "DOID:50" . _:8215d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:240-246.99"; "DOID:50" . _:8217d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:246.8"; "MONDO:relatedTo", "i2s" . _:821ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:246.9"; "DOID:50", "MONDO:equivalentTo", "i2s" . _:821bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013959"; "DOID:50", "MONDO:equivalentTo", "MONDO:ontobio" . _:821cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26893"; "DOID:50", "MONDO:equivalentTo" . _:821ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:14304000"; "DOID:50", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/11.99" . _:8220d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040128"; "DOID:50", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C26893" . _:8226d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Thyroid_disease"; "EFO:1000627" . _:8227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of thyroid gland"; "MONDO:patterns/location_top" . _:8228d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of thyroid gland"; "MONDO:patterns/location_top" . _:8229d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid disease"; "MONDO:0006494" . _:822ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland disease"; "MONDO:patterns/location", "NCIT:C26893" . _:822bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland disease"; rdfs:comment "preferred label from MONDO" . _:822cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:822dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland diseases"; "NCIT:C26893" . _:822ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland disorder"; "NCIT:C26893" . _:822fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland disorders"; "NCIT:C26893" . _:8230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of thyroid gland"; "MONDO:patterns/location_top" . _:8232d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland diseases"; "NCIT:C26893" . a owl:Class; rdfs:subClassOf ; "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)", "various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking."; "Sirarat Sarntivijai"; ; "MESH:D010243", "MONDO:0006496", "Wikipedia:Palsy"; "Plegia", "Plegias", "palsy"; "EFO:1000631"; rdfs:label "palsy" . _:8237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)"; "MESH:D010243" . _:8239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010243"; "MONDO:equivalentTo", "MONDO:ontobio" . _:823cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Palsy"; "EFO:1000631" . _:823dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Plegia"; "MESH:D010243" . _:823ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Plegias"; "MESH:D010243" . _:8240d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palsy"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; """Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications These disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. """, "Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications. These disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual."; "Sirarat Sarntivijai"; "http://www.medindia.net/patients/patientinfo/skindisease-inflammatory-skin-disorders.htm"; "true"; "MONDO:0006501"; "inflammatory skin disease", "inflammatory skin diseases", "inflammatory skin disorder", "inflammatory skin disorders"; "EFO:1000636"; rdfs:comment "TODO merge into MONDO:0002406"; rdfs:label "inflammatory skin disease" . _:8244d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications. These disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual."; "EFO:1000636" . _:8246d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory skin disease"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption", "An instance of metabolic disease that is acquired during the lifetime of the individual."; ; "DOID:0060158", "MONDO:0006504"; "acquired metabolic disease"; "EFO:1000639"; rdfs:label "acquired metabolic disease" . _:8248d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8249d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of metabolic disease that is acquired during the lifetime of the individual."; "MONDO:patterns/acquired" . _:824bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060158"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:824cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060158"; "EFO:1000639", "MONDO:equivalentTo" . _:824ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acquired metabolic disease"; "MONDO:patterns/acquired" . _:8250d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acquired metabolic disease"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.", "Genetic defects in the selective or non-selective transport functions of the kidney tubules."; , , ; ; "DOID:447", "MESH:D015499", "MONDO:0006510", "UMLS:C0035091"; "disorder of renal absorption", "inborn renal tubular transport disorder", "renal absorption disease", "renal tubular transport disease"; "disorder of renal absorption", "kidney tubular transport, inborn error", "kidney tubular transport, inborn errors", "renal tubular transport errors", "renal tubular transport, inborn error"; "EFO:1000647"; rdfs:label "renal tubular transport disease" . _:8254d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8255d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetic defects in the selective or non-selective transport functions of the kidney tubules."; "MESH:D015499" . _:8256d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MESH:D015499" . _:8257d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:447"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8258d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:447"; "EFO:1000647", "MONDO:equivalentTo" . _:825bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015499"; "DOID:447", "MONDO:equivalentTo" . _:825dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035091"; "DOID:447", "MONDO:equivalentTo" . _:8265d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal absorption"; "MONDO:patterns/basis_in_disruption_of_process" . _:8268d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn renal tubular transport disorder"; "CSP2005:1849-8301", "DOID:447" . _:826bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal absorption disease"; "MONDO:design_pattern" . _:826cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular transport disease"; rdfs:comment "preferred label from MONDO" . _:826dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal absorption"; "MONDO:patterns/basis_in_disruption_of_process" . _:826fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney tubular transport, inborn error"; "MESH:D015499" . _:8270d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney tubular transport, inborn errors"; "MESH:D015499" . _:8271d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular transport errors"; "MESH:D015499" . _:8273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular transport, inborn error"; "MESH:D015499" . a owl:Class; rdfs:subClassOf , ; "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.", "a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas."; "Sirarat Sarntivijai"; , ; , , , , ; "COHD:4299544", "DOID:3138", "HP:0000956", "ICD10:L83", "MESH:D000052", "MONDO:0007035", "NCIT:C26687", "SCTID:402599005", "UMLS:C0000889", "Wikipedia:Acanthosis_nigricans"; "AN", "Keratosis nigricans", "acanthosis nigricans", "acanthosis nigricans (disease)", "an - acanthosis nigricans", "keratosis nigricans"; "EFO:1000660"; rdfs:label "acanthosis nigricans" . _:827ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy."; "NCIT:P378" . _:827bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:827ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8280d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4299544"; "MONDO:equivalentTo" . _:8281d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3138"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8282d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3138"; "EFO:1000660", "MONDO:equivalentTo" . _:8283d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000956"; "MONDO:otherHierarchy", "ontobio" . _:8284d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L83"; "DOID:3138", "MONDO:equivalentTo" . _:8285d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000052"; "DOID:3138", "MONDO:equivalentTo", "MONDO:ontobio" . _:8286d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26687"; "DOID:3138", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:8287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:402599005"; "DOID:3138", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.82/0.12" . _:828ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0000889"; "DOID:3138", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C26687", "OMIM:100600" . _:828cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Acanthosis_nigricans"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:828dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Acanthosis_nigricans"; "EFO:1000660" . _:828fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AN"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acanthosis nigricans"; "MONDO:ambiguous", "OMIM:100600" . _:8293d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acanthosis nigricans (disease)"; rdfs:comment "preferred label from MONDO" . _:8295d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "an - acanthosis nigricans"; "DOID:3138" . _:8297d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratosis nigricans"; "CSP2005:2716-6089", "DOID:3138", "MTHICD9_2006:701.2" . a owl:Class; rdfs:subClassOf ; "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive . Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.", "a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal."; "Sirarat Sarntivijai"; , ; , , , ; "COHD:4246290", "DOID:2730", "GARD:0006359", "ICD10:Q81", "ICD10:Q81.9", "ICD9:757.39", "MESH:D004820", "MONDO:0006541", "NCIT:C67383", "SCTID:61003004", "Wikipedia:Epidermolysis_bullosa"; "acantholysis bullosa", "epidermolysis bullosa"; "EB"; "EFO:1000690"; ; rdfs:label "epidermolysis bullosa"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa"^^xsd:anyURI . _:82a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive . Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool."; "https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa" . _:82a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4246290"; "MONDO:equivalentTo" . _:82a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2730"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2730"; "EFO:1000690", "MONDO:equivalentTo" . _:82add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006359"; "MONDO:equivalentTo" . _:82afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81"; "DOID:2730", "MONDO:equivalentTo" . _:82b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.9"; "DOID:2730" . _:82bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:82bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004820"; "DOID:2730", "MONDO:equivalentTo", "MONDO:ontobio" . _:82bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C67383"; "DOID:2730", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:82c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:61003004"; "DOID:2730", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:82c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Epidermolysis_bullosa"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Epidermolysis_bullosa"; "EFO:1000690" . _:82c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acantholysis bullosa"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acantholysis bullosa"; "CSP2005:0726-9169", "DOID:2730" . _:82c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa"; "DOID:2730", "MTHICD9_2006:757.39" . _:82cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa"; rdfs:comment "preferred label from MONDO" . _:82cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EB"; "GARD:0006359" . _:82ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006359" . _:82cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa"^^xsd:anyURI; "GARD:0006359" . a owl:Class; rdfs:subClassOf , ; "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "A skin disorder consisting of hypertrophy of the stratum corneum of the skin."; "Sirarat Sarntivijai"; , , , , , ; "DOID:161", "MESH:D007642", "MONDO:0006566", "NCIT:C34745", "SCTID:254666005", "UMLS:C0022593"; "keratoderma", "keratosis"; "EFO:1000720"; rdfs:label "keratosis" . _:82d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A skin disease characterized_by growth of keratin on the skin or mucous membranes."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A skin disorder consisting of hypertrophy of the stratum corneum of the skin."; "NCIT:C34745" . _:82d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:161"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:161"; "EFO:1000720", "MONDO:equivalentTo" . _:82ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007642"; "DOID:161", "MONDO:equivalentTo", "MONDO:ontobio" . _:82dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34745"; "MONDO:equivalentTo" . _:82e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254666005"; "DOID:161", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/13.53" . _:82e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022593"; "DOID:161", "MONDO:equivalentTo" . _:82e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratoderma"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratoderma"; "NCIT:C34745" . _:82eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratosis"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.", "A keratosis characterized by abnormal thickening of the palms and the soles."; "Sirarat Sarntivijai"; , , , ; , , ; "DOID:3390", "GARD:0008167", "ICD10:L85.2", "ICD9:757.39", "MONDO:0006590", "NCIT:C34748", "SCTID:706885006"; "Keratosis palmaris et plantaris", "Palmoplantar Keratoderma", "keratosis palmaris et plantaris", "palmoplantar keratoderma", "palmoplantar keratosis"; "keratoderma, palmoplantar"; "EFO:1000745"; rdfs:label "palmoplantar keratosis" . _:82f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis."; "NCIT:C34748" . _:82f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A keratosis characterized by abnormal thickening of the palms and the soles."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3390"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:82f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3390"; "EFO:1000745", "MONDO:equivalentTo" . _:82f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008167"; "MONDO:equivalentTo", "shared-umls-xref" . _:82f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L85.2"; "DOID:3390" . _:82f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:82fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34748"; "DOID:3390", "MONDO:equivalentTo" . _:82fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:706885006"; "DOID:3390", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:8300d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Palmoplantar Keratoderma"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8302d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratosis palmaris et plantaris"; "DOID:3390" . _:8304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palmoplantar keratoderma"; "DOID:3390", "NCIT:C34748" . _:8305d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palmoplantar keratosis"; rdfs:comment "preferred label from MONDO" . _:8306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratoderma, palmoplantar"; "GARD:0008167" . a owl:Class; rdfs:subClassOf , ; "a group of diseases affecting the color of skin"; "Sirarat Sarntivijai"; ; "https://www.nlm.nih.gov/medlineplus/skinpigmentationdisorders.html"; "DOID:10123", "ICD10:L81", "SCTID:414032001"; "disorder of pigmentation", "pigmentation disease", "skin pigmentation disorder"; "EFO:1000755"; rdfs:comment "This class covers pigmentation disorders of the skin, as well as those affecting the eyes"; rdfs:label "pigmentation disease" . _:8310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "a group of diseases affecting the color of skin"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8311d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8313d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "https://www.nlm.nih.gov/medlineplus/skinpigmentationdisorders.html"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8315d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10123"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8316d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:414032001"; "MONDO:equivalentTo" . _:8317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmentation disease"; rdfs:comment "preferred label from MONDO" . _:8318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin pigmentation disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , , ; "A disease involving the sebaceous gland.", "A skin disease that is located_in the sebaceous gland."; "Sirarat Sarntivijai"; , , , ; , , , ; "DOID:9098", "ICD10:L70.8", "ICD9:706.1", "MESH:D012625", "MONDO:0006607", "SCTID:3441005", "UMLS:C0036502"; "disease of sebaceous gland", "disease or disorder of sebaceous gland", "disorder of sebaceous gland", "sebaceous gland disease", "sebaceous gland disease or disorder"; "disease of sebaceous glands", "disorder of sebaceous gland"; "EFO:1000763"; rdfs:label "sebaceous gland disease" . _:8334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the sebaceous gland."; "MONDO:DesignPattern" . _:8335d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A skin disease that is located_in the sebaceous gland."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8336d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8337d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9098"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9098"; "EFO:1000763", "MONDO:equivalentTo" . _:833dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L70.8"; "DOID:9098" . _:833ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:706.1"; "DOID:9098" . _:833fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012625"; "MONDO:equivalentTo", "MONDO:ontobio" . _:8342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:3441005"; "MONDO:equivalentTo" . _:8343d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036502"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:8344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of sebaceous gland"; "MONDO:patterns/location_top" . _:8345d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sebaceous gland"; "MONDO:patterns/location_top" . _:8346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sebaceous gland disease"; "MONDO:patterns/location" . _:8347d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sebaceous gland disease"; rdfs:comment "preferred label from MONDO" . _:8349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sebaceous gland disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:834ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sebaceous gland"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)", "Skin diseases characterized by local or general distributions of vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, distinguished by size (vesicles being less than 5–10 mm and bullae being larger than 5–10 mm). Vesiculobullous diseases are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. In the case of vesiculobullous diseases which are also immune disorders, the term immunobullous is sometimes used. (From Scientific American Medicine, 1990, and Wikipedia)"; "Sirarat Sarntivijai"; , , ; "DOID:2731", "MESH:D012872", "MONDO:0006617", "MSH:D012872", "UMLS:C0037275", "Wikipedia:Vesiculobullous_disease"; "Skin Diseases, Vesiculobullous", "vesiculobullous skin disease"; "Sneddon Wilkinson disease", "Sneddon-Wilkinson disease", "skin diseases, vesicular", "subcorneal pustular dermatoses", "subcorneal pustular dermatosis"; "bullous dermatoses", "bullous skin disease", "bullous skin diseases", "dermatoses, bullous", "dermatoses, subcorneal pustular", "dermatoses, vesiculobullous", "dermatosis, subcorneal pustular", "pustular dermatoses, subcorneal", "pustular dermatosis, subcorneal", "skin disease, bullous", "skin disease, vesicular", "skin disease, vesiculobullous", "skin diseases, bullous", "vesicular skin disease", "vesicular skin diseases", "vesiculobullous dermatoses", "vesiculobullous skin diseases"; "EFO:1000774"; rdfs:label "vesiculobullous skin disease" . _:8353d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin disease, vesicular"; "MESH:D012872" . _:8354d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin disease, vesiculobullous"; "MESH:D012872" . _:8356d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin diseases, bullous"; "MESH:D012872" . _:8357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vesicular skin disease"; "MESH:D012872" . _:8359d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vesicular skin diseases"; "MESH:D012872" . _:835ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vesiculobullous dermatoses"; "MESH:D012872" . _:835bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vesiculobullous skin diseases"; "MESH:D012872" . _:835cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)"; "MESH:D012872" . _:835dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Skin diseases characterized by local or general distributions of vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, distinguished by size (vesicles being less than 5–10 mm and bullae being larger than 5–10 mm). Vesiculobullous diseases are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. In the case of vesiculobullous diseases which are also immune disorders, the term immunobullous is sometimes used. (From Scientific American Medicine, 1990, and Wikipedia)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:835ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8361d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2731"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8362d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2731"; "EFO:1000774", "MONDO:equivalentTo" . _:8363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012872"; "DOID:2731", "EFO:1000774", "MONDO:equivalentTo" . _:8364d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D012872"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037275"; "DOID:2731", "MONDO:equivalentTo" . _:8366d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Skin Diseases, Vesiculobullous"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8367d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vesiculobullous skin disease"; "MESH:D012872" . _:8368d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vesiculobullous skin disease"; rdfs:comment "preferred label from MONDO" . _:8369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sneddon Wilkinson disease"; "MESH:D012872" . _:836ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sneddon-Wilkinson disease"; "MESH:D012872" . _:836cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin diseases, vesicular"; "MESH:D012872" . _:836fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "subcorneal pustular dermatoses"; "MESH:D012872" . _:8371d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "subcorneal pustular dermatosis"; "MESH:D012872" . _:8373d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bullous dermatoses"; "MESH:D012872" . _:8379d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bullous skin disease"; "MESH:D012872" . _:837ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bullous skin diseases"; "MESH:D012872" . _:837bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dermatoses, bullous"; "MESH:D012872" . _:837cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dermatoses, subcorneal pustular"; "MESH:D012872" . _:837ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dermatoses, vesiculobullous"; "MESH:D012872" . _:837fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dermatosis, subcorneal pustular"; "MESH:D012872" . _:8381d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pustular dermatoses, subcorneal"; "MESH:D012872" . _:8383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pustular dermatosis, subcorneal"; "MESH:D012872" . _:8385d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin disease, bullous"; "MESH:D012872" . a owl:Class; rdfs:subClassOf ; "Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM.", "Excess production of adrenal cortex hormones."; "Sirarat Sarntivijai"; , , ; , , , , , ; "DOID:3947", "GARD:0008252", "HP:0003118", "ICD9:255.3", "MESH:D000308", "MONDO:0006640", "MSH:D000308", "SCTID:275437005", "UMLS:C0001622", "UMLS:CN205287"; "Adrenocortical Hyperfunction", "Adrenocortical hyperfunction", "Overproduction of cortisol", "adrenal gland hyperfunction", "adrenocortical hyperfunction", "disorder of corticoadrenal overactivity", "hyperadrenalism", "hypercortisolemia", "hypercortisolism", "hypercortisolism (disorder)"; "disorder of corticoadrenal overactivity", "hyperadrenalism", "hyperadrenocorticism", "hypercorticism", "hyperfunction, adrenal gland", "hyperfunction, adrenocortical"; "EFO:1000797"; rdfs:comment "Editor note: consider obsoleting as is phenotypic feature"; rdfs:label "adrenal gland hyperfunction" . _:838fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8392d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Excess production of adrenal cortex hormones."; "MESH:D000308" . _:8395d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3947"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8398d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3947"; "EFO:1000797", "MONDO:equivalentTo" . _:8399d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008252"; "MONDO:equivalentTo" . _:839ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0003118"; "MONDO:otherHierarchy" . _:839bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.3"; "MONDO:relatedTo", "i2s" . _:839dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000308"; "DOID:3947", "EFO:1000797", "MONDO:equivalentTo" . _:839fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D000308"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:275437005"; "DOID:3947", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.76/0.08" . _:83a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001622"; "DOID:3947", "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:83a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205287"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:83a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Adrenocortical Hyperfunction"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Adrenocortical hyperfunction"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Overproduction of cortisol"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland hyperfunction"; "MESH:D000308" . _:83aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal gland hyperfunction"; rdfs:comment "preferred label from MONDO" . _:83acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenocortical hyperfunction"; "DOID:3947" . _:83add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of corticoadrenal overactivity"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperadrenalism"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperadrenalism"; "CSP2005:0060-4042", "DOID:3947" . _:83b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercortisolemia"; "NCIT:C113208" . _:83b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercortisolism"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercortisolism"; "CSP2005:4006-0047", "DOID:3947" . _:83b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercortisolism (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperadrenalism"; "MESH:D000308" . _:83b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperadrenocorticism"; "MESH:D000308" . _:83b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercorticism"; "MESH:D000308" . _:83b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperfunction, adrenal gland"; "MESH:D000308" . _:83bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperfunction, adrenocortical"; "MESH:D000308" . a owl:Class; rdfs:subClassOf , , ; "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.", "Tumors of cancer of the EYELIDS."; "Sirarat Sarntivijai"; , , , , , ; "DOID:2173", "MESH:D005142", "MONDO:0002235", "MSH:D005142", "NCIT:C3031", "NCIt:C3031", "Orphanet:98580", "SCTID:278697001", "UMLS:C0015424"; "Eyelid Neoplasms", "eyelid neoplasm", "eyelid neoplasm (disease)", "eyelid tumor", "neoplasm of eyelid", "neoplasm of the eyelid", "palpebral tumor", "tumor of eyelid", "tumor of the eyelid"; "EFO:1000934"; ; rdfs:label "eyelid neoplasm" . _:83c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma."; "NCIT:C3031" . _:83c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tumors of cancer of the EYELIDS."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2173"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2173"; "MONDO:equivalentTo" . _:83ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005142"; "DOID:2173", "MONDO:equivalentTo", "MONDO:ontobio" . _:83cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D005142"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3031"; "DOID:2173", "MONDO:equivalentTo", "exact-label-match" . _:83d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C3031"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98580"; "MONDO:equivalentTo" . _:83ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:278697001"; "DOID:2173", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:83dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015424"; "DOID:2173", "MONDO:equivalentTo", "NCIT:C3031", "Orphanet:98580" . _:83e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Eyelid Neoplasms"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid neoplasm"; "NCIT:C3031" . _:83e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid neoplasm"; rdfs:comment "preferred label from MONDO" . _:83e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid neoplasm (disease)"; "MONDO:patterns/location" . _:83e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid tumor"; "MONDO:patterns/neoplasm", "NCIT:C3031" . _:83e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of eyelid"; "MONDO:patterns/neoplasm", "NCIT:C3031" . _:83ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the eyelid"; "NCIT:C3031" . _:83ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palpebral tumor"; "MONDO:0020171" . _:83ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of eyelid"; "MONDO:patterns/neoplasm", "NCIT:C3031" . _:83efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the eyelid"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the eyelid"; "DOID:2173", "NCIT:C3031" . _:83f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98580" . a owl:Class; rdfs:subClassOf , ; "A transient dilatation of the lymphatic vessels.", "Dilatation of the lymphatic vessels."; "Sirarat Sarntivijai"; ; , , ; "DOID:2402", "GARD:0006933", "MESH:D008200", "MONDO:0006840", "MSH:D008200", "NCIT:C97087", "UMLS:C0024214"; "Lymphangiectases (disorder)", "Lymphangiectasis", "Lymphangiectasis (morphologic abnormality)", "lymphangiectasis"; "lymphangiectasia"; "EFO:1001025"; ; rdfs:label "lymphangiectasis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis"^^xsd:anyURI . _:83fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A transient dilatation of the lymphatic vessels."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dilatation of the lymphatic vessels."; "NCIT:C97087" . _:83fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2402"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:83fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006933"; "MONDO:equivalentTo" . _:8400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008200"; "EFO:1001025", "MONDO:equivalentTo", "MONDO:ontobio" . _:8401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D008200"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97087"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:8409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024214"; "GARD:0006933", "MONDO:equivalentTo", "NCIT:C97087" . _:840ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lymphangiectases (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:840bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lymphangiectasis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:840ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lymphangiectasis (morphologic abnormality)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8410d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiectasis"; rdfs:comment "preferred label from MONDO" . _:8412d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiectasia"; "GARD:0006933" . _:8413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006933" . _:8414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis"^^xsd:anyURI; "GARD:0006933" . a owl:Class; rdfs:subClassOf , ; "A disease involving the mouth.", "Any disease of the oral cavity"; "Dani Welter"; , , ; , , , , ; "DOID:403", "ICD10:K13", "ICD10:K14", "ICD9:528.9", "MESH:D009059", "MONDO:0006858", "MSH:D009059", "NCIT:C3240", "SCTID:118938008", "SNOMEDCT:118938008", "UMLS:C0026636"; "disease of mouth", "disease of the mouth", "disease or disorder of mouth", "disorder of mouth", "mouth disease", "mouth disease or disorder", "mouth disorder", "oral cavity disease", "oral cavity disorder", "oral disease", "oral disorder"; "disorder of mouth"; "EFO:1001047"; rdfs:label "mouth disease" . _:8418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the mouth."; "MONDO:DesignPattern" . _:8419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease of the oral cavity"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:841cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dani Welter"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:841ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:403"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:841fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:403"; "EFO:1001047", "MONDO:equivalentTo" . _:8420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:528.9"; "MONDO:relatedTo", "i2s" . _:8422d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009059"; "DOID:403", "EFO:1001047", "MONDO:equivalentTo", "MONDO:ontobio" . _:8424d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D009059"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3240"; "DOID:403", "MONDO:equivalentTo" . _:8429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:118938008"; "DOID:403", "EFO:1001047", "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.74" . _:842cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:118938008"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:842ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026636"; "DOID:403", "MONDO:equivalentTo" . _:8432d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of mouth"; "MONDO:patterns/location_top" . _:8433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of the mouth"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8434d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of mouth"; "MONDO:patterns/location_top" . _:8435d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mouth disease"; "MONDO:patterns/location" . _:8436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mouth disease"; rdfs:comment "preferred label from MONDO" . _:8437d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mouth disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:8438d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mouth disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral cavity disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:843ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral cavity disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:843cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral disease"; "NCIT:C3240" . _:843dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral disorder"; "NCIT:C3240" . _:843fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of mouth"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)", "Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function"; "Dani Welter"; , ; , , , , ; "DOID:5113", "ICD10:E40.E46", "ICD10:E63", "ICD9:269.8", "ICD9:269.9", "MESH:D003677", "MONDO:0006873", "MSH:D003677", "MedDRA:10046058", "NCIT:C3669", "SCTID:363246002", "SCTID:70241007", "SNOMEDCT:70241007"; "malnourished", "nutritional deficiency disease"; "malnutrition"; "EFO:1001067"; rdfs:label "nutritional deficiency disease" . _:846ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)"; "MESH:D003677" . _:846cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:846ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dani Welter"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8470d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5113"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8472d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5113"; "EFO:1001067", "MONDO:equivalentTo" . _:8475d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E40.E46"; "MONDO:equivalentTo" . _:8476d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:269.8"; "MONDO:relatedTo", "i2s" . _:8479d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:269.9"; "MONDO:equivalentTo", "i2s" . _:847bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003677"; "DOID:5113", "EFO:1001067", "MONDO:equivalentTo" . _:847ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D003677"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:847fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10046058"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8481d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10046058"; "EFO:1001067" . _:8484d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3669"; "MONDO:equivalentTo" . _:8486d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:363246002"; "MONDO:equivalentTo" . _:8488d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:70241007"; "EFO:1001067", "MONDO:equivalentTo" . _:8489d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:70241007"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:848dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malnourished"; "NCIT:C3669" . _:8492d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nutritional deficiency disease"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.", "Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved."; "Dani Welter"; ; , , , , , , ; "MONDO:0006885"; "COHD:439014", "DOID:12030", "GARD:0008577", "HP:0012121", "ICD10:H44.1", "ICD10:H44.11", "ICD9:360.12", "MESH:D015864", "MONDO:0017255", "MSH:D015864", "MedDRA:10033687", "NCIT:C84989", "NCIt:C84989", "OMIM:MTHU002928", "Orphanet:280898", "SCTID:75614007", "SNOMEDCT:75614007"; "Diffuse uveitis", "Panuveitis", "diffuse uveitis", "panuveitis", "panuveitis (disease)", "total uveitis"; "EFO:1001082"; ; rdfs:label "panuveitis" . _:8495d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers."; "NCIT:C84989" . _:8496d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8497d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dani Welter"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8498d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:439014"; "MONDO:equivalentTo" . _:849ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12030"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:849bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12030"; "EFO:1001082", "MONDO:equivalentTo" . _:849dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008577"; "MONDO:equivalentTo" . _:849fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0012121"; "MONDO:otherHierarchy", "ontobio" . _:84a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H44.1"; "ORDO:280898/ntbt", "Orphanet:280898" . _:84a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H44.11"; "DOID:12030" . _:84a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:360.12"; "DOID:12030", "MONDO:directSiblingOf", "MONDO:equivalentTo", "i2s" . _:84a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015864"; "DOID:12030", "EFO:1001082", "MONDO:equivalentTo" . _:84aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D015864"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10033687"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10033687"; "EFO:1001082", "ORDO:280898/e", "Orphanet:280898" . _:84afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84989"; "DOID:12030", "EFO:1001082", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.79/0.06" . _:84b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C84989"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:MTHU002928"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:280898"; "MONDO:equivalentTo" . _:84b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75614007"; "DOID:12030", "EFO:1001082", "MONDO:directSiblingOf", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.05" . _:84b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:75614007"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diffuse uveitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Panuveitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse uveitis"; "DOID:12030" . _:84c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "panuveitis"; "MONDO:ambiguous" . _:84c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "panuveitis (disease)"; rdfs:comment "preferred label from MONDO" . _:84c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "total uveitis"; "Orphanet:280898" . _:84c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280898" . a owl:Class; rdfs:subClassOf ; "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis."; "Dani Welter"; ; , , ; "DOID:12574", "GARD:0004457", "MESH:D015866", "MONDO:0006918", "MSH:D015866", "MedDRA:10036370", "NCIt:C35111", "SCTID:43363007", "SNOMEDCT:43363007"; "Posterior Uveitis", "Posterior uveitis", "Posterior uveitis (disorder)", "Posterior uveitis NOS (disorder)", "Uveitis, Posterior", "Uveitis, posterior NOS", "chorioretinal region inflammation", "inflammation of chorioretinal region", "posterior uveitis", "uveitis, posterior"; "EFO:1001119"; ; rdfs:comment "Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD"; rdfs:label "posterior uveitis" . _:84d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis."; "MESH:D015866" . _:84d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dani Welter"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12574"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12574"; "EFO:1001119", "MONDO:equivalentTo" . _:84dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004457"; "MONDO:equivalentTo" . _:84ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015866"; "DOID:12574", "EFO:1001119", "MONDO:equivalentTo", "MONDO:relatedTo" . _:84e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D015866"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036370"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036370"; "EFO:1001119" . _:84e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C35111"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:43363007"; "DOID:12574", "EFO:1001119", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.76/0.79" . _:84e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:43363007"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Posterior Uveitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Posterior uveitis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Posterior uveitis (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Posterior uveitis NOS (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Uveitis, Posterior"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Uveitis, posterior NOS"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chorioretinal region inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:84f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammation of chorioretinal region"; "MONDO:DesignPattern", "UBERON:0019207" . _:84f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "posterior uveitis"; rdfs:comment "preferred label from MONDO" . _:84f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uveitis, posterior"; "DOID:12574", "MTHICD9_2006:363.20" . a owl:Class; rdfs:subClassOf , ; "A disease involving the calcareous tooth.", "Any disease of the teeth"; "Dani Welter"; , , , , ; , , , , ; "DOID:1091", "ICD10:K08", "MESH:D014076", "MONDO:0006999", "MSH:DO14076", "NCIT:C35077", "SCTID:234947003", "SNOMEDCT:234947003", "UMLS:C0040435"; "calcareous tooth disease", "calcareous tooth disease or disorder", "dental disease", "dental disorder", "disease of calcareous tooth", "disease of teeth", "disease or disorder of calcareous tooth", "disorder of calcareous tooth", "tooth disease", "tooth disorder"; "disorder of calcareous tooth"; "EFO:1001216"; rdfs:label "tooth disease" . _:84fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the calcareous tooth."; "MONDO:DesignPattern" . _:84fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease of the teeth"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dani Welter"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:84fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1091"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1091"; "EFO:1001216", "MONDO:equivalentTo" . _:8503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014076"; "DOID:1091", "MONDO:equivalentTo", "MONDO:ontobio" . _:8505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:DO14076"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8506d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35077"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:8507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234947003"; "DOID:1091", "EFO:1001216", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.24" . _:8508d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:234947003"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:850bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040435"; "DOID:1091", "MONDO:equivalentTo", "NCIT:C35077" . _:850cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "calcareous tooth disease"; "MONDO:patterns/location" . _:850fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "calcareous tooth disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:8511d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dental disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dental disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8514d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dental disorder"; "CSP2005:0828-0533", "DOID:1091" . _:8516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of calcareous tooth"; "MONDO:patterns/location_top" . _:8517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of teeth"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:851ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of calcareous tooth"; "MONDO:patterns/location_top" . _:851bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tooth disease"; rdfs:comment "preferred label from MONDO" . _:851dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tooth disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8520d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tooth disorder"; "NCIT:C35077" . _:8522d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of calcareous tooth"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , , ; "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.", "inflammation of one or all portions of the uveal tract"; "Dani Welter"; , , , ; , , , , , , ; "true"; "DOID:13141", "HP:0000554", "ICD10:H20.9", "MESH:D014605", "MONDO:0020283", "MSH:D014605", "MedDRA:10046851", "NCIT:C26909", "NCIt:C26909", "OMIM:MTHU007399", "Orphanet:98715", "SCTID:128473001", "SNOMEDCT:128473001", "UMLS:C0042164"; "inflammation of uvea", "uvea inflammation", "uveitis", "uveitis (disease)"; "EFO:1001231"; ; rdfs:label "uveitis" . _:852bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision."; "NCIT:C26909" . _:852ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammation of one or all portions of the uveal tract"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:852fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dani Welter"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8530d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13141"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13141"; "EFO:1001231", "MONDO:equivalentTo" . _:8532d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000554"; "MONDO:otherHierarchy", "ontobio" . _:8535d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H20.9"; "DOID:13141" . _:8536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014605"; "DOID:13141", "EFO:1001231", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:98715/e", "Orphanet:98715" . _:8538d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D014605"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:853ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10046851"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:853bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10046851"; "EFO:1001231", "ORDO:98715/e", "Orphanet:98715" . _:853cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26909"; "DOID:13141", "EFO:1001231", "MONDO:equivalentTo" . _:8542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C26909"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:MTHU007399"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8545d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98715"; "MONDO:equivalentTo" . _:8548d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128473001"; "DOID:13141", "EFO:1001231", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:854cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNOMEDCT:128473001"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:854dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042164"; "DOID:13141", "MONDO:equivalentTo", "NCIT:C26909", "ORDO:98715/e", "Orphanet:98715" . _:854ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uvea inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:854fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uveitis"; "MONDO:ambiguous" . _:8550d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uveitis (disease)"; rdfs:comment "preferred label from MONDO" . _:8551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98715" . a owl:Class; rdfs:subClassOf , , ; "A neoplasm (disease) that involves the heart.", "Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM."; "Sirarat Sarntivijai"; ; ; "DOID:117", "GARD:0002619", "MONDO:0021209", "MSH:D006338", "NCIT:C3081", "NCIt:C3081"; "Cardiac neoplasm", "Cardiac neoplasms", "Cardiac tumor", "cardiac neoplasm", "heart cancer", "heart neoplasm", "heart neoplasm (disease)", "heart neoplasms", "heart tumor", "neoplasm of heart", "neoplasm of the heart", "neoplasm, cardiac", "tumor of heart", "tumor of the heart"; "Intracavitary tumors", "myocardial tumors (rhabdomyomas and fibromas)", "primary cardiac tumors, childhood"; "EFO:1001339"; ; rdfs:label "Heart neoplasm" . _:8557d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neoplasm (disease) that involves the heart."; "MONDO:patterns/location" . _:8559d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:855bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:855dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:117"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:855fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002619"; "MONDO:equivalentTo" . _:8561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D006338"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3081"; "MONDO:equivalentTo" . _:8564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C3081"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8565d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiac neoplasm"; "NCIT:C3081" . _:8569d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiac neoplasms"; "NCIT:C3081" . _:856ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiac tumor"; "NCIT:C3081" . _:856cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiac neoplasm"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:856dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart cancer"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:856fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart neoplasm"; rdfs:comment "preferred label from MONDO" . _:8571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart neoplasm (disease)"; "MONDO:patterns/location" . _:8572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart neoplasms"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart tumor"; "MONDO:patterns/neoplasm", "NCIT:C3081" . _:8576d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of heart"; "MONDO:patterns/neoplasm", "NCIT:C3081" . _:8579d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the heart"; "NCIT:C3081" . _:857ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm, cardiac"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:857dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of heart"; "MONDO:patterns/neoplasm", "NCIT:C3081" . _:857fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the heart"; "NCIT:C3081" . _:8580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intracavitary tumors"; "GARD:0002619" . _:8581d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myocardial tumors (rhabdomyomas and fibromas)"; "GARD:0002619" . _:8585d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary cardiac tumors, childhood"; "GARD:0002619" . a owl:Class; rdfs:subClassOf , , , ; "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell."; "Sirarat Sarntivijai"; ; , , , , ; "DOID:14504", "GARD:0013334", "ICD10:E75.24", "ICD10:E75.242", "ICD10:E75.249", "MESH:D009542", "MONDO:0001982", "MSH:D052536", "MedDRA:10029403", "NCIT:C61269", "NCIt:C61269", "SCTID:58459009", "UMLS:C0028064", "Wikipedia:Niemann–Pick_disease"; "NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK", "NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM", "Niemann-Pick disease", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, subacute juvenile form", "SPHINGOMYELIN LIPIDOSIS", "Sphingomyelinase Deficiency Disease", "lipoid histiocytosis", "lipoid histiocytosis (classical phosphatide)", "sphingomyelin lipidosis", "sphingomyelin/cholesterol lipidosis", "sphingomyelinase deficiency disease"; "type A Niemann-Pick disease"; "EFO:1001380"; ; rdfs:label "Niemann-Pick disease" . _:858dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell."; "https://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease" . _:85a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14504"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14504"; "MONDO:equivalentTo" . _:85add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013334"; "MONDO:equivalentTo" . _:85afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.24"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.24"; "DOID:14504" . _:85b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.242"; "DOID:14504" . _:85b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.249"; "DOID:14504" . _:85b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009542"; "DOID:14504", "MONDO:equivalentTo" . _:85b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D052536"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029403"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61269"; "DOID:14504", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:85bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C61269"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:58459009"; "DOID:14504", "MONDO:equivalentTo" . _:85c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0028064"; "DOID:14504", "MONDO:equivalentTo", "NCIT:C61269" . _:85c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease"; rdfs:comment "preferred label from MONDO" . _:85cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease with cholesterol esterification block"; "DOID:14504" . _:85cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease, subacute juvenile form"; "DOID:14504" . _:85d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPHINGOMYELIN LIPIDOSIS"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sphingomyelinase Deficiency Disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid histiocytosis"; "DOID:14504" . _:85d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid histiocytosis (classical phosphatide)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid histiocytosis (classical phosphatide)"; "CSP2005:1849-9151", "DOID:14504" . _:85d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingomyelin lipidosis"; "DOID:14504" . _:85d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingomyelin/cholesterol lipidosis"; "NCIT:C61269" . _:85d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingomyelinase deficiency disease"; "DOID:14504" . _:85dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type A Niemann-Pick disease"; "DOID:14504" . a owl:Class; rdfs:subClassOf ; "A disease involving the auditory system.", "Pathological processes of the ear, the hearing, and the equilibrium system of the body."; "Gautier Koscielny"; , , , , , ; , ; "DOID:2742", "ICD10:H74", "ICD10:H93", "ICD10:H93.9", "ICD10:H93.90", "ICD9:388.9", "MONDO:0002409", "MSH:D004427", "SCTID:362966006"; "Destruction - ear drum", "Unspecified disorder of ear", "auditory disease", "auditory system disease", "auditory system disease or disorder", "disease of auditory system", "disease or disorder of auditory system", "disorder of auditory system", "disorder of ear", "ear and mastoid disease", "ear disease", "ear disorder", "ear disorder NOS", "otologic disease", "otological disease"; "disorder of auditory system"; "EFO:1001455"; rdfs:label "auditory system disease" . _:85e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the auditory system."; "MONDO:DesignPattern" . _:85e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pathological processes of the ear, the hearing, and the equilibrium system of the body."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2742"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2742"; "MONDO:equivalentTo" . _:85ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H93.9"; "DOID:2742" . _:85edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H93.90"; "DOID:2742" . _:85efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:388.9"; "DOID:2742", "MONDO:relatedTo" . _:85f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D004427"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:362966006"; "MONDO:equivalentTo" . _:85f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Destruction - ear drum"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unspecified disorder of ear"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:85f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "auditory disease"; "DOID:2742" . _:85f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "auditory system disease"; "MONDO:patterns/location" . _:85fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "auditory system disease"; rdfs:comment "preferred label from MONDO" . _:85fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "auditory system disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:85fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of auditory system"; "MONDO:patterns/location_top" . _:85fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of auditory system"; "MONDO:patterns/location_top" . _:85ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of ear"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8600d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ear and mastoid disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ear and mastoid disease"; "DOID:2742" . _:8603d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ear disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ear disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:860ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ear disorder NOS"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:860dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otologic disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:860ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otological disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:860fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of auditory system"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf , ; "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.", "Pathogenic infections of the brain, spinal cord, and meninges."; "Gautier Koscielny"; , , , ; "ICD10:A81", "ICD10:A89", "ICD9:349.89", "MESH:D002494", "MONDO:0024619", "MSH:D002494", "NCIT:C27582", "SCTID:128117002", "UMLS:C0007684"; "Central Nervous System Infections", "central nervous system infectious disease", "central nervous system infectious disorder", "infectious disease of central nervous system"; "central nervous system infection", "infections, central nervous system"; "EFO:1001456"; rdfs:label "central nervous system infection" . _:8613d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis."; "NCIT:C27582" . _:8615d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pathogenic infections of the brain, spinal cord, and meninges."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:861bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:861dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:349.89"; "MONDO:relatedTo", "i2s" . _:861ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002494"; "MONDO:equivalentTo" . _:861fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D002494"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8620d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27582"; "MONDO:equivalentTo" . _:8621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128117002"; "MONDO:equivalentTo" . _:8623d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007684"; "MONDO:equivalentTo", "NCIT:C27582" . _:8625d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Central Nervous System Infections"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8626d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system infectious disease"; "MONDO:patterns/location", "NCIT:C27582" . _:8627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system infectious disorder"; "NCIT:C27582" . _:8628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system infectious disorder"; rdfs:comment "preferred label from MONDO" . _:8629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infectious disease of central nervous system"; "MONDO:0021684", "NCIT:C27582" . _:862ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central nervous system infection"; "MESH:D002494" . _:862bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infections, central nervous system"; "MESH:D002494" . a owl:Class; rdfs:subClassOf ; "A disease affects cognitive processes.", "Disturbances in mental processes related to learning, thinking, reasoning, and judgment."; "Gautier Koscielny"; , , , , ; , , , ; "COHD:374009", "DOID:1561", "ICD10:F09", "ICD9:294.9", "MESH:D019965", "MONDO:0002039", "NCIT:C92196", "SCTID:443265004", "Wikipedia:Cognitive_disorder"; "Cognition Disorders", "Cognitive Defects", "Cognitive Deficits", "cognitive disease", "cognitive disorder"; "organic mental disorder"; "EFO:1001457"; rdfs:label "cognitive disorder" . _:862ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease affects cognitive processes."; "MONDO:DesignPattern" . _:862fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disturbances in mental processes related to learning, thinking, reasoning, and judgment."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:374009"; "MONDO:equivalentTo" . _:8633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1561"; "MONDO:equivalentTo" . _:8634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:F09"; "DOID:1561" . _:8635d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:294.9"; "MONDO:relatedTo", "i2s" . _:8636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019965"; "DOID:1561", "MONDO:equivalentTo", "MONDO:ontobio" . _:8638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C92196"; "MONDO:equivalentTo", "exact-label-match" . _:8639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:443265004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.07" . _:863cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Cognitive_disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:863ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cognition Disorders"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8642d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cognitive Defects"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cognitive Deficits"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8644d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cognitive disease"; "DOID:1561" . _:8646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cognitive disorder"; "NCIT:C92196" . _:8648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cognitive disorder"; rdfs:comment "preferred label from MONDO" . _:8649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "organic mental disorder"; "DOID:1561", "NCIT:C34870" . a owl:Class; rdfs:subClassOf , ; "Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome", "The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction."; "Dani Welter"; ; "MONDO:0021060", "Orphanet:536391", "Wikipedia:RASopathy"; "RASopathy", "Ras protein signal transduction disease", "disorder of Ras protein signal transduction"; "disorder of Ras protein signal transduction"; "EFO:1001502"; ; rdfs:label "rasopathy" . _:864bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:864cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction."; "https://en.wikipedia.org/wiki/RASopathy" . _:864ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dani Welter"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:536391"; "MONDO:equivalentTo", "https://github.com/monarch-initiative/mondo/issues/606" . _:8659d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:RASopathy"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:865ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RASopathy"; rdfs:comment "preferred label from MONDO" . _:865bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ras protein signal transduction disease"; "MONDO:design_pattern" . _:865cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of Ras protein signal transduction"; "MONDO:patterns/basis_in_disruption_of_process" . _:865dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of Ras protein signal transduction"; "MONDO:patterns/basis_in_disruption_of_process" . a owl:Class; rdfs:subClassOf , , ; "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands."; "Gautier Koscielny"; , ; , , , , , , ; "COHD:432595", "DOID:9120", "HP:0011034", "ICD10:E85", "ICD10:E85.0", "ICD10:E85.1", "ICD10:E85.2", "ICD10:E85.3", "ICD10:E85.4", "ICD10:E85.8", "ICD10:E85.9", "ICD9:277.3", "ICD9:277.30", "MESH:D000686", "MONDO:0019065", "MSH:D000686", "MedDRA:10002022", "NCIT:C2868", "NCIt:C2868", "ONCOTREE:MIDDA", "Orphanet:69", "SCTID:17602002", "UMLS:C0002726", "Wikipedia:Amyloidosis"; "amyloid", "amyloid disease", "amyloidoses", "amyloidosis", "amyloidosis (disease)", "systemic amyloidosis"; "EFO:1001875"; ; rdfs:comment "Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes"; rdfs:label "amyloidosis" . _:866bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:866dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands."; "NCIT:C2868" . _:8670d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8671d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:432595"; "MONDO:equivalentTo" . _:8672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9120"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9120"; "MONDO:equivalentTo" . _:8674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0011034"; "MONDO:otherHierarchy", "ontobio" . _:8676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85"; "DOID:9120" . _:8677d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "ORDO:69/btnt", "Orphanet:69" . _:8679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.1"; "ORDO:69/btnt", "Orphanet:69" . _:867bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.2"; "ORDO:69/btnt", "Orphanet:69" . _:867fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.3"; "ORDO:69/btnt", "Orphanet:69" . _:8680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.4"; "ORDO:69/btnt", "Orphanet:69" . _:8681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.8"; "ORDO:69/btnt", "Orphanet:69" . _:8683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.9"; "DOID:9120", "ORDO:69/btnt", "Orphanet:69" . _:8684d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.3"; "DOID:9120", "MONDO:equivalentTo", "i2s" . _:8685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.30"; "DOID:9120", "MONDO:equivalentTo", "i2s" . _:8686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000686"; "DOID:9120", "MONDO:equivalentTo", "ORDO:69/e", "Orphanet:69" . _:8689d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D000686"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:868ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002022"; "ORDO:69/e", "Orphanet:69" . _:868bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2868"; "DOID:9120", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:868dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C2868"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:868ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:MIDDA"; "MONDO:equivalentTo" . _:8690d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:69"; "MONDO:equivalentTo" . _:8691d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:17602002"; "DOID:9120", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:8692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002726"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002726"; "DOID:9120", "MONDO:equivalentTo", "NCIT:C2868", "ORDO:69/e", "Orphanet:69" . _:8694d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Amyloidosis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloid"; "NCIT:C2868" . _:8696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloid disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloid disease"; "CSP2005:1849-1519", "DOID:9120" . _:8698d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloidoses"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloidoses"; "MESH:D000686" . _:869ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloidosis"; "MONDO:ambiguous" . _:869bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloidosis (disease)"; "MONDO:0004711" . _:869dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyloidosis (disease)"; rdfs:comment "preferred label from MONDO" . _:869fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "systemic amyloidosis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:86a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:69" . a owl:Class; rdfs:subClassOf , , ; "A channelopathy that involves the muscle tissue."; ; "MONDO:0019119", "Orphanet:71864"; "channelopathy of muscle tissue", "muscle tissue channelopathy", "muscular channelopathy"; "EFO:1001899"; ; rdfs:label "muscular channelopathy" . _:86a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A channelopathy that involves the muscle tissue."; "MONDO:patterns/location" . _:86a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:71864"; "MONDO:equivalentTo" . _:86a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "channelopathy of muscle tissue"; "MONDO:design_pattern" . _:86a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle tissue channelopathy"; "MONDO:patterns/location" . _:86a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular channelopathy"; rdfs:comment "preferred label from MONDO" . _:86aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:71864" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma.", "Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion)."; "Gautier Koscielny"; , ; , , , , , , , ; true; "COHD:434300", "DOID:169", "ICD10:D3A.8", "ICD9:209", "ICD9:209-209.99", "ICD9:239.7", "MESH:D018358", "MONDO:0019496", "MSH:D018358", "NCI:C3809", "NCIT:C3809", "Orphanet:877", "SCTID:255046005", "UMLS:C0003650", "UMLS:C0206754", "UMLS:CN206284"; "APUDoma", "neuroendocrine neoplasm", "neuroendocrine tumor"; "EFO:1001901"; ; rdfs:comment "Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass"; rdfs:label "neuroendocrine neoplasm" . _:86b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:86b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion)."; "Orphanet:877" . _:86b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:86dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434300"; "MONDO:equivalentTo" . _:86dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:169"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:86ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:169"; "MONDO:equivalentTo" . _:86e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D3A.8"; "DOID:169" . _:86e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:209"; "DOID:169" . _:86e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:209-209.99"; "DOID:169" . _:86e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:239.7"; "MONDO:relatedTo", "i2s" . _:86ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018358"; "DOID:169", "MONDO:equivalentTo" . _:86ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D018358"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:86eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI:C3809"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:86f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3809"; "DOID:169", "MONDO:equivalentTo" . _:86fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:877"; "MONDO:equivalentTo" . _:86fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:255046005"; "DOID:169", "MONDO:equivalentTo" . _:86ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0003650"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:877" . _:8700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206754"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206754"; "DOID:169", "MONDO:equivalentTo", "NCIT:C3809", "Orphanet:877" . _:8705d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206284"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:8706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APUDoma"; "Orphanet:877" . _:8708d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroendocrine neoplasm"; "DOID:169", "NCIT:C3809" . _:870ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroendocrine neoplasm"; rdfs:comment "preferred label from MONDO" . _:870cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroendocrine tumor"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:870dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroendocrine tumor"; "NCIT:C3809" . _:870fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:877" . a owl:Class; rdfs:subClassOf ; "A neuropathy that affect the nerves that control the voluntary muscles.", "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions"; , , , ; , , , , ; "DOID:440", "ICD10:G70.9", "ICD9:358", "ICD9:358.9", "MESH:D009468", "MONDO:0019056", "MSH:D009468", "MedDRA:10029323", "Orphanet:68381", "UMLS:C0027868"; "neuromuscular disease"; "EFO:1001902"; ; rdfs:label "neuromuscular disease" . _:8713d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neuropathy that affect the nerves that control the voluntary muscles."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions"; "https://en.wikipedia.org/wiki/Neuromuscular_disease" . _:8715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:440"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:871ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:440"; "MONDO:equivalentTo" . _:871bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G70.9"; "DOID:440" . _:871dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:358"; "DOID:440" . _:871ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:358.9"; "DOID:440" . _:871fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009468"; "DOID:440", "MONDO:equivalentTo", "ORDO:68381/e", "Orphanet:68381" . _:8720d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D009468"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029323"; "ORDO:68381/e", "Orphanet:68381" . _:8724d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68381"; "MONDO:equivalentTo" . _:8726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027868"; "DOID:440", "MONDO:equivalentTo", "ORDO:68381/e", "Orphanet:68381" . _:8729d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuromuscular disease"; "MONDO:0002986" . _:872bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuromuscular disease"; rdfs:comment "preferred label from MONDO" . _:872cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68381" . a owl:Class; rdfs:subClassOf ; "A disease involving the connective tissue.", "A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects."; "Gautier Koscielny"; , , ; , , , , ; ; "COHD:253549", "DOID:65", "ICD10:M35", "ICD10:M95", "MESH:D003240", "MSH:D003240", "NCIT:C26729", "NCIt:C26729", "SCTID:105969002", "UMLS:C0009782"; "Connective Tissue Disorder", "Connective Tissue Disorders", "connective tissue disease", "connective tissue disease or disorder", "connective tissue diseases", "connective tissue disorder", "connective tissue disorders", "disease of connective tissue", "disease of connective tissues", "disease or disorder of connective tissue", "disease, connective tissue", "disorder of connective tissue", "primary disorder of connective tissue", "tissue disease, connective"; "disorder of connective tissue"; "EFO:1001986"; rdfs:label "connective tissue disease" . _:872fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the connective tissue."; "MONDO:DesignPattern" . _:8731d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8733d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:65" . _:8737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:253549"; "MONDO:equivalentTo" . _:873ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:65"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8740d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:65"; "MONDO:equivalentTo" . _:8742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003240"; "DOID:65", "MONDO:equivalentTo", "MONDO:ontobio" . _:8745d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D003240"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8747d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26729"; "DOID:65", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.78/0.38" . _:8749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C26729"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:874bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:105969002"; "DOID:65", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.75/0.39" . _:874dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0009782"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:874ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0009782"; "DOID:65", "MONDO:equivalentTo", "NCIT:C26729" . _:874fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Connective Tissue Disorder"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Connective Tissue Disorders"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8751d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue disease"; "MONDO:patterns/location" . _:8752d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue disease"; rdfs:comment "preferred label from MONDO" . _:8753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue disease or disorder"; "MONDO:patterns/location" . _:8754d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue diseases"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8755d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue diseases"; "NCIT:C26729" . _:8756d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue disorder"; "CSP2005:0729-7208", "DOID:65" . _:8757d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue disorders"; "NCIT:C26729" . _:8758d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of connective tissue"; "MONDO:patterns/location_top" . _:8759d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of connective tissues"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:875bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, connective tissue"; "NCIT:C26729" . _:875dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of connective tissue"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:875fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of connective tissue"; "DOID:65", "MONDO:patterns/location_top" . _:8760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary disorder of connective tissue"; "NCIT:C26729" . _:8761d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tissue disease, connective"; "NCIT:C26729" . _:8762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of connective tissue"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation."; "Gautier Koscielny"; , , , , , , ; , , , , ; ; "COHD:30978", "DOID:10241", "GARD:0007756", "ICD10:D56", "ICD10:D56.9", "ICD9:282.4", "ICD9:282.40", "ICD9:282.49", "MESH:D013789", "MONDO:0000984", "MSH:D013789", "NCIT:C35069", "NCIt:C35069", "SCTID:40108008", "UMLS:C0039730"; "sickle-cell thalassemia with crisis", "sickle-cell thalassemia without crisis", "thalassemia", "thalassemia Hb-S disease with crisis", "thalassemia Hb-S disease without crisis", "α- and β-thalassemia"; "EFO:1001996"; rdfs:label "Thalassemia" . _:8768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:876ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation."; "NCIT:P378" . _:876cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:876ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:10241" . _:8770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:30978"; "MONDO:equivalentTo" . _:8772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10241"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8773d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10241"; "MONDO:equivalentTo" . _:8776d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007756"; "MONDO:equivalentTo", "shared-xref" . _:877ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56"; "DOID:10241", "MONDO:equivalentTo" . _:877cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.9"; "DOID:10241" . _:8781d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.4"; "DOID:10241", "MONDO:equivalentTo", "i2s" . _:8784d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.40"; "DOID:10241" . _:8785d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.49"; "MONDO:relatedTo", "i2s" . _:8787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013789"; "DOID:10241", "MONDO:equivalentTo" . _:8789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D013789"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:878bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35069"; "DOID:10241", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:878cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C35069"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:878dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:40108008"; "DOID:10241", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:878ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039730"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:878fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039730"; "DOID:10241", "MONDO:equivalentTo", "NCIT:C35069" . _:8790d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sickle-cell thalassemia with crisis"; "DOID:10241", "ICD9CM_2006:282.42" . _:8791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sickle-cell thalassemia without crisis"; "DOID:10241", "ICD9CM_2006:282.41" . _:8792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thalassemia"; rdfs:comment "preferred label from MONDO" . _:8793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thalassemia Hb-S disease with crisis"; "DOID:10241" . _:8794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thalassemia Hb-S disease without crisis"; "DOID:10241" . _:8795d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "α- and β-thalassemia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf ; "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.", "An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods."; "Dani Welter"; ; , , ; "true"; "DOID:0060056", "MONDO:0000605", "NCIT:C3114", "SCTID:473010000"; "allergic reaction", "hypersensitive", "hypersensitivity", "hypersensitivity reaction", "hypersensitivity reaction disease", "sensitive", "sensitivity"; "hypersensitivity"; "EFO:1002003"; rdfs:label "hypersensitivity reaction disease" . _:8796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system."; "GOC:jal", "ISBN:0781735149" . _:879bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060056"; "MONDO:equivalentTo" . _:879dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3114"; "MONDO:equivalentTo" . _:87a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:473010000"; "MONDO:equivalentTo" . _:87a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "allergic reaction"; "NCIT:C3114" . _:87a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypersensitive"; "NCIT:C3114" . _:87abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypersensitivity"; "NCIT:C3114" . _:87add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypersensitivity reaction"; "NCIT:C3114" . _:87afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypersensitivity reaction disease"; rdfs:comment "preferred label from MONDO" . _:87b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sensitive"; "NCIT:C3114" . _:87b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sensitivity"; "NCIT:C3114" . _:87b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypersensitivity"; "NCIT:C3114" . a owl:Class; rdfs:subClassOf ; "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation", "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass."; "Dani Welter"; , , ; "true"; "ICD10:C73", "MONDO:0015447", "NCIT:C7153", "NCIt:C7153", "ONCOTREE:WDTC", "ORDO:Orphanet_146", "Orphanet:146", "UMLS:C1337013"; "differentiated Thyroid cancer", "differentiated Thyroid carcinoma", "differentiated Thyroid gland cancer", "differentiated Thyroid gland carcinoma", "differentiated thyroid carcinoma", "papillary or follicular thyroid carcinoma", "thyroid gland differentiated carcinoma", "thyroid gland well differentiated carcinoma", "well differentiated Thyroid carcinoma", "well differentiated Thyroid gland carcinoma", "well-differentiated Thyroid cancer", "well-differentiated thyroid carcinoma"; "EFO:1002017"; ; rdfs:label "differentiated thyroid carcinoma" . _:87bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass."; "Orphanet:146" . _:87bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C73"; "ORDO:146/ntbt", "Orphanet:146" . _:87c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7153"; "MONDO:equivalentTo" . _:87c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:WDTC"; "MONDO:equivalentTo" . _:87c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:146"; "MONDO:equivalentTo" . _:87c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1337013"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C7153" . _:87c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "differentiated Thyroid cancer"; "NCIT:C7153" . _:87c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "differentiated Thyroid carcinoma"; "NCIT:C7153" . _:87cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "differentiated Thyroid gland cancer"; "NCIT:C7153" . _:87cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "differentiated Thyroid gland carcinoma"; "NCIT:C7153" . _:87cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "differentiated thyroid carcinoma"; rdfs:comment "preferred label from MONDO" . _:87cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "papillary or follicular thyroid carcinoma"; "Orphanet:146" . _:87d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland differentiated carcinoma"; "NCIT:C7153" . _:87d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid gland well differentiated carcinoma"; "NCIT:C7153" . _:87d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "well differentiated Thyroid carcinoma"; "NCIT:C7153" . _:87d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "well differentiated Thyroid gland carcinoma"; "NCIT:C7153" . _:87d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "well-differentiated Thyroid cancer"; "NCIT:C7153" . _:87dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "well-differentiated thyroid carcinoma"; "Orphanet:146" . _:87dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:146" . a owl:Class; rdfs:subClassOf , ; "A disease involving the bronchus.", "a respiratory system disease that has its manifestation in the bronchus"; "Sirarat Sarntivijai"; , , , , ; "COHD:256717", "DOID:1176", "ICD9:519.19", "MESH:D001982", "MONDO:0001358", "NCIT:C34439", "SCTID:41427001", "UMLS:C0006261"; "bronchial disease", "bronchial disorder", "bronchospasm", "bronchus disease", "bronchus disease or disorder", "disease of bronchus", "disease or disorder of bronchus", "disorder of bronchus"; "bronchial disorder", "disorder of bronchus"; "EFO:1002018"; rdfs:label "bronchial disease" . _:87e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the bronchus."; "MONDO:patterns/location_top" . _:87e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:256717"; "MONDO:equivalentTo" . _:87e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1176"; "MONDO:equivalentTo" . _:87e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:519.19"; "linkedlifedata" . _:87e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001982"; "DOID:1176", "MONDO:equivalentTo" . _:87ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34439"; "MONDO:equivalentTo" . _:87ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:41427001"; "DOID:1176", "MONDO:equivalentTo" . _:87eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006261"; "DOID:1176", "MONDO:equivalentTo" . _:87f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bronchial disease"; rdfs:comment "preferred label from MONDO" . _:87f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bronchospasm"; "DOID:1176", "NCIT:C34439" . _:87f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bronchus disease"; "MONDO:patterns/location" . _:87f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bronchus disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:87f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of bronchus"; "MONDO:patterns/location_top" . _:87f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bronchus"; "MONDO:patterns/location_top" . _:87fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bronchus"; "MONDO:patterns/location_top" . a owl:Class; rdfs:subClassOf ; "A disease involving the renal glomerulus."; ; , , , ; "COHD:4059452", "GTR:AN0966176", "ICD10:N00.N08", "ICD10:N08", "MONDO:0019722", "NCIT:C120887", "Orphanet:93548", "SCTID:197679002", "UMLS:CN580795"; "disease of renal glomerulus", "disease or disorder of renal glomerulus", "disorder of renal glomerulus", "glomerular disease", "glomerulopathy", "renal glomerulus disease", "renal glomerulus disease or disorder"; "disorder of renal glomerulus", "glomerulopathies"; "EFO:1002049"; ; rdfs:label "glomerular disease" . _:8803d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the renal glomerulus."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8805d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the renal glomerulus."; "MONDO:patterns/location_top" . _:8807d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4059452"; "MONDO:equivalentTo" . _:8809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0966176"; "UMLS:CN580795" . _:8829d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N00.N08"; "MONDO:equivalentTo" . _:8837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N08"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8839d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0019722"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:883bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120887"; "MONDO:equivalentTo" . _:883cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93548"; "MONDO:equivalentTo" . _:883dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:197679002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:883ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN580795"; "MONDO:equivalentTo" . _:883fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of renal glomerulus"; "MONDO:patterns/location_top" . _:8840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal glomerulus"; "MONDO:patterns/location_top" . _:8842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glomerular disease"; rdfs:comment "preferred label from MONDO" . _:8844d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glomerulopathy"; "MONDO:patterns/location" . _:8846d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal glomerulus disease"; "MONDO:patterns/location" . _:8848d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal glomerulus disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:884ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of renal glomerulus"; "MONDO:patterns/location_top" . _:884bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glomerulopathies"; "GTR:AN0966176" . _:884ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93548" . a owl:Class; rdfs:subClassOf , ; "Inflammation of renal tissue.", "Inflammation of renal tissue. [ NCIT:P378 ]"; , , ; , , , , ; "COHD:193253", "DOID:10952", "ICD10:N05", "ICD10:N08", "ICD10:N10", "ICD10:N12", "ICD9:583.7", "ICD9:583.89", "ICD9:583.9", "MESH:D009393", "MONDO:0001166", "NCIT:C26833", "SCTID:52845002", "UMLS:C0027697"; "inflammation of kidney", "kidney inflammation", "nephritis"; "EFO:1002050"; rdfs:label "nephritis" . _:8856d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammation of renal tissue."; "NCIT:P378" . _:8857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inflammation of renal tissue. [ NCIT:P378 ]"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:193253"; "MONDO:equivalentTo" . _:885ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10952"; "MONDO:equivalentTo" . _:885cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N05"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:885fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N05"; "DOID:10952" . _:8860d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N08"; "DOID:10952" . _:8861d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:583.7"; "MONDO:relatedTo", "i2s" . _:8862d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:583.89"; "MONDO:relatedTo", "i2s" . _:8864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:583.9"; "MONDO:relatedTo", "i2s" . _:8866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009393"; "DOID:10952", "MONDO:equivalentTo", "MONDO:ontobio" . _:8869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONDO:0001166"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:886ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26833"; "DOID:10952", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:886ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:52845002"; "DOID:10952", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:886fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027697"; "DOID:10952", "MONDO:equivalentTo", "NCIT:C26833" . _:8870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney inflammation"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8871d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kidney inflammation"; "MONDO:patterns/inflammatory_disease_by_site" . _:8872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephritis"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease."; "A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease."; "James Malone modified from original"; "disease property"; "http://www.ebi.ac.uk/efo/EFO_0001438"; "true"; "A realizable entity [snap:RealizableEntity] that essentially causes a specific process or transformation in the object [snap:Object] in which it inheres, under specific circumstances and in conjunction with the laws of nature. A general formula for dispositions is: X (object [snap:Object] has the disposition D to (transform, initiate a process) R under conditions C."; "NCIt:C41205"; rdfs:label "disposition" . a owl:Class; rdfs:subClassOf ; "A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee"; "James Malone"; "http://www.ebi.ac.uk/efo/EFO_0001436"; "true"; "A specifically dependent continuant [snap:SpecificallyDependentContinuant] that is exhibited if it inheres in an entity or entities at all (a categorical property)."; "NCIt:C25283", "SNOMEDCT:263496004"; rdfs:label "quality" . a owl:Class; rdfs:subClassOf ; "An experimental factor which is a property or characteristic of some other entity. For example, the mouse has the colour white."; "James Malone", "Sirarat Sarntivijai"; "sample characteristic"; "http://www.ebi.ac.uk/efo/EFO_0001443"; "true"; "A continuant [snap:Continuant] that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same."; "BFO:0000020"; "SpecificallyDependentContinuant", "specifically dependent continuant"; rdfs:label "material property" . a owl:Class; rdfs:subClassOf owl:Thing; "ORPHA number no more in use. Deprecated entities are part of them. They are clinical entities thought to be unique in the past but now considered, thanks to the evolution of the knowledge, part of another clinical entity."@en; rdfs:label "obsolete class"@en . a owl:Class; rdfs:subClassOf , , , , , , ; "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males."; , , , , , ; "A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations."@en; "orphanet", "orphanet"@en; "GARD:0005677", "ICD-10:Q98.8", "ICD10:Q98.8", "ICD9:758.81", "MONDO:0015028", "MSH:D007713", "MeSH:D007713", "MedDRA:10048230", "NCIT:C89801", "SCTID:403760006", "UMLS:C2936741"; "48, XXYY syndrome", "48,XXYY syndrome"; "48,XXYY Klinefelter syndrome", "48,XXYY variant of Klinefelter's syndrome", "XXYY syndrome"; "Orphanet:10"; , ; rdfs:label "48,XXYY syndrome", "48,XXYY syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome"^^xsd:anyURI; "ORPHA:10" . _:887cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males."; "Orphanet:10" . _:887ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005677"; "MONDO:equivalentTo" . _:887fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10570; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10570 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q98.8"; "Attributed"@en . _:8885d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q98.8"; "NTBT (narrower term maps to a broader term)"@en . _:8887d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q98.8"; "ORDO:10/attributed", "ORDO:10/ntbt", "Orphanet:10" . _:888ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.81"; "MONDO:relatedTo", "i2s" . _:888cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D007713"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:888ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048230"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:888fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048230"; "ORDO:10/e", "Orphanet:10" . _:8892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C89801"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.37/0.47" . _:8897d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:403760006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.44" . _:8898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936741"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936741"; "MONDO:equivalentTo", "NCIT:C89801", "ORDO:10/e", "Orphanet:10" . _:889ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "48, XXYY syndrome"; "NCIT:C89801" . _:889bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "48,XXYY syndrome"; rdfs:comment "preferred label from MONDO" . _:889cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "48,XXYY Klinefelter syndrome"; "GARD:0005677" . _:889dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "48,XXYY variant of Klinefelter's syndrome"; "GARD:0005677" . _:889ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XXYY syndrome"; "GARD:0005677" . _:88a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005677" . _:88a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:10" . _:88a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome"^^xsd:anyURI; "GARD:0005677" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , ; "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer."; , ; , , , , , , , ; "Louis-Bar syndrome"@en; "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer."@en; "orphanet"@en; "DOID:12704", "GARD:0005862", "ICD-10:G11.3", "ICD10:G11.3", "ICD9:334.8", "MESH:D001260", "MONDO:0008840", "MSH:D001260", "MeSH:D001260", "MedDRA:10003594", "NCIT:C2887", "OMIM:208900", "OMIM:208910", "SCTID:68504005", "UMLS:C0004135"; "Louis Bar syndrome", "Louis-Bar syndrome", "ataxia - telangiectasia", "ataxia telangiectasia", "ataxia telangiectasia syndrome", "boder-Sedgwick syndrome"; "AT", "AT, complementation group A", "AT, complementation group C", "AT, complementation group D", "AT, complementation group E", "AT1", "ataxia - telangiectasia variant", "ataxia-telangiectasia; AT", "cerebello-oculocutaneous telangiectasia", "immunodeficiency with ataxia telangiectasia"; "Orphanet:100"; , ; rdfs:label "Ataxia-telangiectasia", "Ataxia-telangiectasia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia"^^xsd:anyURI; "ORPHA:100" . _:88add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer."; "Orphanet:100" . _:88aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12704"; "MONDO:equivalentTo" . _:88b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005862"; "MONDO:equivalentTo" . _:88b3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10593; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10593 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:88b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.3"; "NTBT (narrower term maps to a broader term)"@en . _:88b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11.3"; "ORDO:100/inclusion", "ORDO:100/ntbt", "Orphanet:100" . _:88b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:334.8"; "MONDO:relatedTo", "i2s" . _:88bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001260"; "DOID:12704", "MONDO:equivalentTo", "ORDO:100/e", "Orphanet:100" . _:88bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001260"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:88c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10003594"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:88c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10003594"; "ORDO:100/e", "Orphanet:100" . _:88c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2887"; "DOID:12704", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:88c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:208900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:88c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:208900"; "DOID:12704", "MONDO:equivalentTo", "ORDO:100/e", "Orphanet:100" . _:88cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:208910"; "BTNT (broader term maps to a narrower term)"@en . _:88cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:68504005"; "DOID:12704", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.85" . _:88ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004135"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:88cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004135"; "DOID:12704", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C2887", "OMIM:208900", "ORDO:100/e", "Orphanet:100" . _:88ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Louis Bar syndrome"; "CSP2005:0485-2495", "DOID:12704" . _:88d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Louis-Bar syndrome"; "NCIT:C2887", "OMIM:208900", "Orphanet:100" . _:88d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia - telangiectasia"; "MONDO:Lexical", "NCIT:C2887", "OMIM:208900" . _:88d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia telangiectasia"; "NCIT:C2887" . _:88d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia telangiectasia"; rdfs:comment "preferred label from MONDO" . _:88d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia telangiectasia syndrome"; "NCIT:C2887" . _:88dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "boder-Sedgwick syndrome"; "DOID:12704" . _:88dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AT"; "MONDO:Lexical", "OMIM:208900" . _:88dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AT, complementation group A"; "OMIM:208900" . _:88e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AT, complementation group C"; "OMIM:208900" . _:88e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AT, complementation group D"; "OMIM:208900" . _:88e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AT, complementation group E"; "OMIM:208900" . _:88e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AT1"; "OMIM:208900" . _:88e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia - telangiectasia variant"; "OMIM:208900" . _:88ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia-telangiectasia; AT"; "OMIM:208900" . _:88edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebello-oculocutaneous telangiectasia"; "GARD:0005862" . _:88efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency with ataxia telangiectasia"; "GARD:0005862" . _:88f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005862" . _:88f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100" . _:88f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia"^^xsd:anyURI; "GARD:0005862" . a owl:Class; rdfs:subClassOf , ; "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation."; , ; "orphanet"; "MONDO:0015052", "UMLS:CN197343"; "Primary ILD specific to childhood due to pulmonary surfactant protein anomalies", "primary ILD specific to childhood due to pulmonary surfactant protein anomalies", "primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies"; "Orphanet:100049"; ; rdfs:label "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" . _:88fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation."; "Orphanet:100049" . _:88fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197343"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:88fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ILD specific to childhood due to pulmonary surfactant protein anomalies"; "Orphanet:100049" . _:88fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies"; rdfs:comment "preferred label from MONDO" . _:88ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100049" . a owl:Class; rdfs:subClassOf , ; "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."; , , , , ; "HAE 1"@en, "HAE-I"@en, "Hereditary angioneurotic edema type 1"@en; "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."@en; "orphanet", "orphanet"@en; "ICD-10:D84.1", "ICD10:D84.1", "ICD9:279.8", "MONDO:0015053", "MSH:C538577", "MeSH:C538577", "OMIM:106100", "SCTID:234619000", "UMLS:C0398775", "UMLS:C2717906"; "HAE 1", "HAE-I", "Hereditary angioneurotic edema type 1", "hereditary angioedema type 1", "hereditary angioneurotic edema type 1"; "Orphanet:100050"; ; rdfs:label "Hereditary angioedema type 1", "Hereditary angioedema type 1"@en; "ORPHA:100050" . _:8903d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."; "Orphanet:100050" . _:8904d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10635; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10635 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:8906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:890ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:100050/attributed", "ORDO:100050/ntbt", "Orphanet:100050" . _:890ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.8"; "MONDO:relatedTo", "i2s" . _:890fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538577"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8910d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:106100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234619000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.58" . _:8913d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398775"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8914d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2717906"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAE 1"; "Orphanet:100050" . _:8917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAE-I"; "Orphanet:100050" . _:891cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angioedema type 1"; rdfs:comment "preferred label from MONDO" . _:891dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angioneurotic edema type 1"; "Orphanet:100050" . _:891ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100050" . a owl:Class; rdfs:subClassOf , ; "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."; , , ; "HAE 2"@en, "HAE-II"@en, "Hereditary angioneurotic edema type 2"@en; "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."@en; "orphanet", "orphanet"@en; "ICD-10:D84.1", "ICD10:D84.1", "MONDO:0015054", "OMIM:106100", "UMLS:C0398776", "UMLS:C1862892"; "HAE 2", "HAE-II", "Hereditary angioneurotic edema type 2", "hereditary angioedema type 2", "hereditary angioneurotic edema type 2"; "Orphanet:100051"; ; rdfs:label "Hereditary angioedema type 2", "Hereditary angioedema type 2"@en; "ORPHA:100051" . _:8923d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."; "Orphanet:100051" . _:8925d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10651; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10651 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:8928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:8929d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:100051/attributed", "ORDO:100051/ntbt", "Orphanet:100051" . _:892ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:106100"; "NTBT (narrower term maps to a broader term)"@en . _:892bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398776"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:892cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1862892"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:892dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1862892"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:100051/e", "Orphanet:100051" . _:892ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAE 2"; "Orphanet:100051" . _:892fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAE-II"; "Orphanet:100051" . _:8930d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angioedema type 2"; rdfs:comment "preferred label from MONDO" . _:8931d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angioneurotic edema type 2"; "Orphanet:100051" . _:8932d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100051" . a owl:Class; rdfs:subClassOf , ; "UMLS:C0040136"; rdfs:label "Thyroid tumor"@en; "ORPHA:100087" . _:8934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040136"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "MedDRA:10007476", "UMLS:C0549473"; rdfs:label "Thyroid carcinoma"@en; "ORPHA:100088" . _:8937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10007476"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8938d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0549473"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "ICD-10:C75.0", "ICD-10:D35.1", "ICD-10:D44.2", "UMLS:C0030521"; rdfs:label "Rare parathyroid tumor"@en; "ORPHA:100090" . _:8965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C75.0"; "BTNT (broader term maps to a narrower term)"@en . _:8966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.1"; "BTNT (broader term maps to a narrower term)"@en . _:8967d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.2"; "BTNT (broader term maps to a narrower term)"@en . _:8968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030521"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; rdfs:label "Adrenal/paraganglial tumor"@en; "ORPHA:100091" . a owl:Class; rdfs:subClassOf ; "GEP-NEN"@en; rdfs:label "Gastroenteropancreatic neuroendocrine neoplasm"@en; "ORPHA:100092" . a owl:Class; rdfs:subClassOf , , , , ; , ; ; "ICD-10:D44.8", "ICD10:D44.8", "MONDO:0015079", "UMLS:C0027662", "UMLS:CN197373"; "multiple polyglandular tumor"; "Orphanet:100094"; ; rdfs:comment "Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad"; rdfs:label "Multiple polyglandular tumor", "Multiple polyglandular tumor"@en; "ORPHA:100094" . _:8969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100094" . _:896ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8970d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10673; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10673 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Specific code (The term has its own code in the ICD10)"@en . _:8971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:equivalentTo", "ORDO:100094/e", "ORDO:100094/specific", "Orphanet:100094" . _:8973d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027662"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8974d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197373"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:8975d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple polyglandular tumor"; rdfs:comment "preferred label from MONDO" . _:8976d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100094" . a owl:Class; rdfs:subClassOf ; "UMLS:C3714644"; rdfs:label "Thymic tumor"@en; "ORPHA:100100" . _:8979d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3714644"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; ; "MONDO:0015083"; "nuclear oculomotor paralysis"; "Orphanet:100932"; ; rdfs:comment "Editor note: see notes for supranuclear"; rdfs:label "Nuclear oculomotor paralysis" . _:8989d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nuclear oculomotor paralysis"; rdfs:comment "preferred label from MONDO" . _:898bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:100932" . a owl:Class; rdfs:subClassOf , ; "Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance."; "EFMR"@en, "Juberg-Hellman syndrome"@en; "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance."@en; "orphanet", "orphanet"@en; "OMIM:300088", "UMLS:C1848137"; "EFMR", "Familial epilepsy and mental retardation limited to females"; rdfs:label "Female restricted epilepsy with intellectual disability", "Female restricted epilepsy with intellectual disability"@en; "ORPHA:101039" . _:898fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300088"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8991d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1848137"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13."; , , , , , ; "FHH type 2"@en; "DOID:0060701", "GARD:0009758", "ICD-10:E83.5", "ICD10:E83.5", "MESH:C537146", "MONDO:0007792", "MSH:C537146", "MeSH:C537146", "OMIM:145981", "UMLS:C1840347", "UMLS:C2931427"; "FHH type 2", "HHC2", "familial hypocalciuric hypercalcemia 2", "familial hypocalciuric hypercalcemia type 2", "hypocalciuric hypercalcemia type II"; "FBH2", "familial benign hypercalcemia, type 2", "hypercalcemia, familial benign type 2", "hypercalcemia, familial benign, type 2", "hypocalciuric hypercalcemia, familial, type 2", "hypocalciuric hypercalcemia, familial, type II", "hypocalciuric hypercalcemia, familial, type II; HHC2"; "Orphanet:101049"; ; rdfs:label "Familial hypocalciuric hypercalcemia type 2", "Familial hypocalciuric hypercalcemia type 2"@en; "ORPHA:101049" . _:8999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13."; "DOID:0060701", "PMID:23802516" . _:899bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060701"; "MONDO:equivalentTo" . _:899ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009758"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:899fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10688; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10688 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "Attributed"@en . _:89a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "NTBT (narrower term maps to a broader term)"@en . _:89a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.5"; "DOID:0060701", "ORDO:101049/attributed", "ORDO:101049/ntbt", "Orphanet:101049" . _:89a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537146"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:101049/e", "Orphanet:101049" . _:89a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537146"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:89a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145981"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:89a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145981"; "DOID:0060701", "MONDO:equivalentTo", "ORDO:101049/e", "Orphanet:101049" . _:89a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1840347"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:89aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1840347"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:145981", "Orphanet:101049" . _:89abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931427"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:89aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHH type 2"; "DOID:0060701", "Orphanet:101049" . _:89afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHC2"; "DOID:0060701", "MONDO:Lexical", "OMIM:145981" . _:89b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia 2"; rdfs:comment "preferred label from MONDO" . _:89b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia type 2"; "DOID:0060701", "MONDORULE:1" . _:89b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia type II"; "DOID:0060701" . _:89b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBH2"; "GARD:0009758" . _:89b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial benign hypercalcemia, type 2"; "OMIM:145981" . _:89b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, familial benign type 2"; "GARD:0009758" . _:89b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, familial benign, type 2"; "OMIM:145981" . _:89bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type 2"; "GARD:0009758", "OMIM:145981" . _:89bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type II"; "MONDO:Lexical", "OMIM:145981" . _:89bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type II; HHC2"; "OMIM:145981" . _:89bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101049" . a owl:Class; rdfs:subClassOf , ; "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene."; , , , , ; "FHH type 3"@en; "DOID:0060702", "GARD:0002878", "ICD-10:E83.5", "ICD10:E83.5", "MESH:C537147", "MONDO:0010926", "MSH:C537147", "MeSH:C537147", "OMIM:600740", "UMLS:C1833372"; "AP2S1 familial hypocalciuric hypercalcemia", "FHH type 3", "HHC3", "familial hypocalciuric hypercalcemia 3", "familial hypocalciuric hypercalcemia caused by mutation in AP2S1", "familial hypocalciuric hypercalcemia type 3", "hypocalciuric hypercalcemia type III"; "FBH3", "FBHOk", "familial benign hypercalcemia, Oklahoma variant", "familial benign hypercalcemia, type 3", "hypercalcemia, familial benign, Oklahoma type", "hypercalcemia, familial benign, type 3", "hypocalciuric hypercalcemia, familial, type 3", "hypocalciuric hypercalcemia, familial, type III", "hypocalciuric hypercalcemia, familial, type III; HHC3"; "Orphanet:101050"; ; rdfs:label "Familial hypocalciuric hypercalcemia type 3", "Familial hypocalciuric hypercalcemia type 3"@en; "ORPHA:101050" . _:89c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene."; "MONDO:patterns/disease_series_by_gene" . _:89c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060702"; "MONDO:equivalentTo" . _:89c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002878"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:89c5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10715; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10715 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "Attributed"@en . _:89c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "NTBT (narrower term maps to a broader term)"@en . _:89c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.5"; "DOID:0060702", "ORDO:101050/attributed", "ORDO:101050/ntbt", "Orphanet:101050" . _:89cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537147"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:101050/e", "Orphanet:101050" . _:89ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537147"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:89cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600740"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:89d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600740"; "DOID:0060702", "MONDO:equivalentTo", "ORDO:101050/e", "Orphanet:101050" . _:89d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833372"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:89d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833372"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:600740", "ORDO:101050/e", "Orphanet:101050" . _:89d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AP2S1 familial hypocalciuric hypercalcemia"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:89d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHH type 3"; "DOID:0060702", "Orphanet:101050" . _:89d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHC3"; "DOID:0060702", "MONDO:Lexical", "OMIM:600740" . _:89d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia 3"; rdfs:comment "preferred label from MONDO" . _:89dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia caused by mutation in AP2S1"; "MONDO:design_pattern" . _:89dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia type 3"; "DOID:0060702", "MONDORULE:1" . _:89ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia type III"; "DOID:0060702" . _:89e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBH3"; "GARD:0002878" . _:89e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBHOk"; "GARD:0002878" . _:89e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial benign hypercalcemia, Oklahoma variant"; "GARD:0002878" . _:89e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial benign hypercalcemia, type 3"; "OMIM:600740" . _:89e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, familial benign, Oklahoma type"; "OMIM:600740" . _:89e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, familial benign, type 3"; "OMIM:600740" . _:89ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type 3"; "GARD:0002878", "OMIM:600740" . _:89ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type III"; "MONDO:Lexical", "OMIM:600740" . _:89eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type III; HHC3"; "OMIM:600740" . _:89f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101050" . a owl:Class; rdfs:subClassOf , , , , , ; "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."; ; , , , ; "Autosomal recessive Segawa syndrome"@en, "DYT5b"@en, "Tyrosine hydroxylase deficiency"@en, "Tyrosine hydroxylase-deficient dopa-responsive dystonia"@en; "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy."@en; "orphanet", "orphanet"@en; "GARD:0001902", "ICD-10:G24.1", "ICD10:G24.1", "MONDO:0011551", "OMIM:605407", "SCTID:715827001", "UMLS:C2673535"; "Autosomal recessive Segawa syndrome", "DYT5b", "Dopa-responsive dystonia, autosomal recessive", "TH-deficient dopa-responsive dystonia", "Tyrosine hydroxylase deficiency", "Tyrosine hydroxylase-deficient dopa-responsive dystonia", "autosomal recessive Segawa syndrome", "autosomal recessive dopa-responsive dystonia", "dopa-responsive dystonia, autosomal recessive", "tyrosine hydroxylase-deficient dopa-responsive dystonia"; "DOPA responsive dystonia, autosomal recessive", "Dopa-responsive dystonia, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Segawa syndrome, autosomal recessive", "dystonia, DOPA responsive, autosomal recessive", "dystonia, Dopa-responsive, autosomal recessive"; "Orphanet:101150"; ; rdfs:label "Autosomal recessive dopa-responsive dystonia", "Autosomal recessive dopa-responsive dystonia"@en; "ORPHA:101150" . _:89fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."; "Orphanet:101150" . _:89ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001902"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:8a01d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10744; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10744 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "Attributed"@en . _:8a02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "NTBT (narrower term maps to a broader term)"@en . _:8a03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.1"; "ORDO:101150/attributed", "ORDO:101150/ntbt", "Orphanet:101150" . _:8a04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605407"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8a05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605407"; "MONDO:equivalentTo", "ORDO:101150/e", "Orphanet:101150" . _:8a06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715827001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/6.65" . _:8a07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2673535"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8a08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2673535"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "OMIM:605407", "Orphanet:101150" . _:8a09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT5b"; "Orphanet:101150" . _:8a0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dopa-responsive dystonia, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:8a0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TH-deficient dopa-responsive dystonia"; rdfs:comment "preferred label from MONDO" . _:8a0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive Segawa syndrome"; "Orphanet:101150" . _:8a0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive dopa-responsive dystonia"; "https://orcid.org/0000-0002-5655-9589" . _:8a11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dopa-responsive dystonia, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:8a13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tyrosine hydroxylase-deficient dopa-responsive dystonia"; "Orphanet:101150" . _:8a15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOPA responsive dystonia, autosomal recessive"; "GARD:0001902" . _:8a17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dopa-responsive dystonia, autosomal recessive"; "OMIM:605407" . _:8a18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parkinsonism, infantile, autosomal recessive"; "OMIM:605407" . _:8a1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Segawa syndrome, autosomal recessive"; "OMIM:605407" . _:8a1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia, DOPA responsive, autosomal recessive"; "GARD:0001902" . _:8a1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia, Dopa-responsive, autosomal recessive"; "OMIM:605407" . _:8a20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101150" . a owl:Class; rdfs:subClassOf , , , ; "Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis."; , , , , , , ; , ; "PCT"@en; "Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis."@en; "orphanet"@en; "DOID:3132", "GARD:0007433", "ICD-10:E80.1", "ICD10:E80.1", "MESH:D017119", "MONDO:0015104", "MSH:D017119", "MeSH:D017119", "MedDRA:10036183", "NCIT:C27725", "OMIM:176090", "OMIM:176100", "ONCOTREE:PCT", "SCTID:61860000", "UMLS:C0162566"; "PCT", "porphyria cutanea tarda"; "porphyria cutania tarda"; "Orphanet:101330"; ; rdfs:comment "Editor notes: ORDO classifies as inherited but in fact many forms are inherited"; rdfs:label "Porphyria cutanea tarda", "Porphyria cutanea tarda"@en; "ORPHA:101330" . _:8a25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis."; "Orphanet:101330" . _:8a26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MESH:D017119/inferred", "MONDO:Redundant", "NCIT:C27725", "Orphanet:101330/inferred" . _:8a28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101330" . _:8a2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3132"; "MONDO:equivalentTo" . _:8a2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007433"; "MONDO:equivalentTo", "Orphanet-shared" . _:8a2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8a30d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10773; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10773 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.1"; "Specific code (The term has its own code in the ICD10)"@en . _:8a31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.1"; "DOID:3132", "ORDO:101330/e", "ORDO:101330/specific", "Orphanet:101330" . _:8a32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017119"; "DOID:3132", "MONDO:equivalentTo", "ORDO:101330/e", "Orphanet:101330" . _:8a35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017119"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8a36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036183"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8a38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036183"; "ORDO:101330/e", "Orphanet:101330" . _:8a3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27725"; "DOID:3132", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.78/0.26" . _:8a3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176090"; "BTNT (broader term maps to a narrower term)"@en . _:8a3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176100"; "BTNT (broader term maps to a narrower term)"@en . _:8a40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:PCT"; "MONDO:equivalentTo" . _:8a42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:61860000"; "DOID:3132", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.07" . _:8a43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162566"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8a46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162566"; "DOID:3132", "MONDO:equivalentTo", "NCIT:C27725", "ORDO:101330/e", "Orphanet:101330" . _:8a48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCT"; "Orphanet:101330" . _:8a4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria cutanea tarda"; rdfs:comment "preferred label from MONDO" . _:8a4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria cutania tarda"; "ONCOTREE:PCT" . _:8a4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101330" . a owl:Class; rdfs:subClassOf , , , ; "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings."; , ; , , , ; "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings."@en; "orphanet"@en; "ICD-10:Q89.0", "ICD10:Q89.0", "MESH:C563028", "MONDO:0010066", "OMIM:271400", "SCTID:726708009"; "familial isolated congenital asplenia"; "ICAS", "asplenia, familial", "asplenia, isolated congenital", "asplenia, isolated congenital; ICAS", "hyposplenia, isolated congenital", "splenic hypoplasia"; "Orphanet:101351"; ; rdfs:label "Familial isolated congenital asplenia", "Familial isolated congenital asplenia"@en; "ORPHA:101351" . _:8a53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings."; "Orphanet:101351" . _:8a55d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10792; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q89.0"; "Attributed"@en . _:8a56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q89.0"; "NTBT (narrower term maps to a broader term)"@en . _:8a57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q89.0"; "ORDO:101351/attributed", "ORDO:101351/ntbt", "Orphanet:101351" . _:8a59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563028"; "MONDO:equivalentTo", "MONDO:ontobio" . _:8a5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:271400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8a69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:271400"; "MONDO:equivalentTo", "ORDO:101351/e", "Orphanet:101351" . _:8a6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:726708009"; "MONDO:equivalentTo" . _:8a6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial isolated congenital asplenia"; rdfs:comment "preferred label from MONDO" . _:8a6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICAS"; "MONDO:Lexical", "OMIM:271400" . _:8a71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "asplenia, familial"; "OMIM:271400" . _:8a73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "asplenia, isolated congenital"; "MONDO:Lexical", "OMIM:271400" . _:8a74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "asplenia, isolated congenital; ICAS"; "OMIM:271400" . _:8a7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyposplenia, isolated congenital"; "OMIM:271400" . _:8a7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "splenic hypoplasia"; "OMIM:271400" . _:8a7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101351" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare urogenital disease"@en; "ORPHA:101433" . a owl:Class; rdfs:subClassOf , ; "Rare genetic ophthalmologic disease"@en; "Rare genetic ophthalmologic disease"; rdfs:label "Rare genetic eye disease", "Rare genetic eye disease"@en; "ORPHA:101435" . a owl:Class; rdfs:subClassOf , , ; "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families."; ; , , ; "Xq22.3 microdeletion syndrome"@en; "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families."@en; "orphanet"@en; "GARD:0002432", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:C537113", "MONDO:0010641", "OMIM:150700", "OMIM:308940"; "X-linked diffuse leiomyomatosis-Alport syndrome", "Xq22.3 microdeletion syndrome"; "ATS-DL", "Alport syndrome and diffuse leiomyomatosis", "Alport syndrome with diffuse leiomyomatosis", "DL-ATS", "chromosome Xq22.3 centromeric deletion syndrome", "diffuse leiomyomatosis in Alport syndrome", "leiomyomatosis, diffuse, with Alport syndrome", "leiomyomatosis, diffuse, with Alport syndrome; DL-ATS", "leiomyomatosis, esophageal and vulval, with nephropathy"; "Orphanet:1018"; ; rdfs:label "X-linked Alport syndrome-diffuse leiomyomatosis"@en, "X-linked diffuse leiomyomatosis - Alport syndrome"; "ORPHA:1018" . _:8a85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families."; "Orphanet:1018" . _:8a86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002432"; "MONDO:equivalentTo", "OMIM-shared" . _:8a87d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10810; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10810 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:8a88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:8a8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:1018/attributed", "ORDO:1018/ntbt", "Orphanet:1018" . _:8a8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537113"; "MONDO:equivalentTo", "MONDO:ontobio" . _:8a8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:150700"; "BTNT (broader term maps to a narrower term)"@en . _:8a8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308940"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8a90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308940"; "MONDO:equivalentTo", "ORDO:1018/e", "Orphanet:1018" . _:8a92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked diffuse leiomyomatosis-Alport syndrome"; rdfs:comment "preferred label from MONDO" . _:8a94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Xq22.3 microdeletion syndrome"; "Orphanet:1018" . _:8a95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATS-DL"; "GARD:0002432" . _:8a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alport syndrome and diffuse leiomyomatosis"; "OMIM:308940" . _:8a98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alport syndrome with diffuse leiomyomatosis"; "GARD:0002432" . _:8a99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DL-ATS"; "MONDO:Lexical", "OMIM:308940" . _:8a9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome Xq22.3 centromeric deletion syndrome"; "OMIM:308940" . _:8a9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse leiomyomatosis in Alport syndrome"; "GARD:0002432" . _:8a9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leiomyomatosis, diffuse, with Alport syndrome"; "MONDO:Lexical", "OMIM:308940" . _:8a9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leiomyomatosis, diffuse, with Alport syndrome; DL-ATS"; "OMIM:308940" . _:8a9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leiomyomatosis, esophageal and vulval, with nephropathy"; "OMIM:308940" . _:8a9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1018" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare gastroesophageal disease"@en; "ORPHA:101936" . a owl:Class; rdfs:subClassOf ; "UMLS:C0030286"; rdfs:label "Rare pancreatic disease"@en; "ORPHA:101937" . _:8aa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030286"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "UMLS:C0400923"; rdfs:label "Rare vascular liver disease"@en; "ORPHA:101938" . _:8aaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0400923"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "MedDRA:10019689", "UMLS:C0851734"; rdfs:label "Rare metabolic liver disease", "Rare metabolic liver disease"@en; "ORPHA:101940" . _:8aadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019689"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8aafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0851734"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare hepatic and biliary tract tumor"@en; "ORPHA:101943" . a owl:Class; rdfs:subClassOf ; "UMLS:C0024115"; rdfs:label "Rare pulmonary disease"@en; "ORPHA:101944" . _:8ab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024115"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare bronchopulmonary tumor"@en; "ORPHA:101945" . a owl:Class; rdfs:subClassOf ; "UMLS:C0011849", "UMLS:C0011860"; rdfs:label "Rare diabetes mellitus"@en; "ORPHA:101952" . _:8ab6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011849"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8ab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011860"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "ICD-10:E78.0", "ICD-10:E78.1", "ICD-10:E78.2", "ICD-10:E78.3", "ICD-10:E78.4", "ICD-10:E78.5", "ICD-10:E78.6", "ICD-10:E78.8", "ICD-10:E78.9", "ICD10:E78.0", "ICD10:E78.1", "ICD10:E78.2", "ICD10:E78.3", "ICD10:E78.4", "ICD10:E78.5", "ICD10:E78.6", "ICD10:E78.8", "ICD10:E78.9", "UMLS:C0242339"; rdfs:label "Rare dyslipidemia", "Rare dyslipidemia"@en; "ORPHA:101953" . _:8ab9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.0"; "BTNT (broader term maps to a narrower term)"@en . _:8abbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.0"; "Specific code (The term has its own code in the ICD10)"@en . _:8abdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.1"; "BTNT (broader term maps to a narrower term)"@en . _:8abfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.1"; "Specific code (The term has its own code in the ICD10)"@en . _:8ac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.2"; "BTNT (broader term maps to a narrower term)"@en . _:8ac3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.2"; "Specific code (The term has its own code in the ICD10)"@en . _:8ac6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.3"; "BTNT (broader term maps to a narrower term)"@en . _:8ac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.3"; "Specific code (The term has its own code in the ICD10)"@en . _:8acad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.4"; "BTNT (broader term maps to a narrower term)"@en . _:8ad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.4"; "Specific code (The term has its own code in the ICD10)"@en . _:8ad2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.5"; "BTNT (broader term maps to a narrower term)"@en . _:8ad3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.5"; "Specific code (The term has its own code in the ICD10)"@en . _:8ad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.6"; "BTNT (broader term maps to a narrower term)"@en . _:8ad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.6"; "Specific code (The term has its own code in the ICD10)"@en . _:8ad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.8"; "BTNT (broader term maps to a narrower term)"@en . _:8ad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.8"; "Specific code (The term has its own code in the ICD10)"@en . _:8adcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.9"; "BTNT (broader term maps to a narrower term)"@en . _:8addd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10854; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10854 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.9"; "Specific code (The term has its own code in the ICD10)"@en . _:8ae3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242339"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "UMLS:C0001621"; rdfs:label "Rare adrenal disease"@en; "ORPHA:101954" . _:8ae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001621"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "UMLS:C0040128"; rdfs:label "Rare thyroid disease"@en; "ORPHA:101955" . _:8aebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040128"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:E31.0", "ICD-10:E31.1", "ICD-10:E31.8", "ICD-10:E31.9"; rdfs:label "Polyendocrinopathy"@en; "ORPHA:101956" . _:8aecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.0"; "BTNT (broader term maps to a narrower term)"@en . _:8aedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.1"; "BTNT (broader term maps to a narrower term)"@en . _:8aeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.8"; "BTNT (broader term maps to a narrower term)"@en . _:8aefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.9"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf , , ; ; ; "ICD-10:E23.0", "ICD10:E23", "ICD10:E23.0", "MONDO:0015127", "UMLS:C0020635"; "pituitary deficiency"; "Orphanet:101957"; ; rdfs:comment "Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes"; rdfs:label "Pituitary deficiency", "Pituitary deficiency"@en; "ORPHA:101957" . _:8af6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101957" . _:8af9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8afbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10865; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10865 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Specific code (The term has its own code in the ICD10)"@en . _:8afdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "MONDO:relatedTo", "ORDO:101957/e", "ORDO:101957/specific", "Orphanet:101957" . _:8afed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020635"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8affd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary deficiency"; rdfs:comment "preferred label from MONDO" . _:8b00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101957" . a owl:Class; rdfs:subClassOf ; "MedDRA:10052381"; rdfs:label "Primary adrenal insufficiency"@en; "ORPHA:101958" . _:8b02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10052381"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "CPAI"@en, "Chronic adrenocorticoid insufficiency"@en; "Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones."@en; "orphanet"@en; "UMLS:C0001403"; rdfs:label "Chronic primary adrenal insufficiency"@en; "ORPHA:101959" . _:8b03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001403"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones."; , ; "NCIT:C26689", "Orphanet:101959"; "Addison disease", "Addison's disease", "CPAI", "Primary Hypoadrenalism", "chronic adrenocorticoid insufficiency", "chronic primary adrenal insufficiency", "primary adrenal insufficiency, chronic"; "Addison's disease"; "Orphanet:101960"; ; rdfs:label "Genetic chronic primary adrenal insufficiency", "Genetic chronic primary adrenal insufficiency"@en; "ORPHA:101960" . _:8b0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones."; "Orphanet:101959" . _:8b0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26689"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.98/0.76/3.84" . _:8b0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:101959"; "MONDO:equivalentTo" . _:8b10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Addison disease"; "NCIT:C26689" . _:8b11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Addison's disease"; "NCIT:C26689" . _:8b13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPAI"; "Orphanet:101959" . _:8b14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary Hypoadrenalism"; "NCIT:C26689" . _:8b16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic adrenocorticoid insufficiency"; "Orphanet:101959" . _:8b18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic primary adrenal insufficiency"; rdfs:comment "preferred label from MONDO" . _:8b19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary adrenal insufficiency, chronic"; "MONDO:patterns/chronic" . _:8b1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Addison's disease"; "NCIT:C26689" . _:8b1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101959" . a owl:Class; rdfs:subClassOf ; rdfs:label "Acquired chronic primary adrenal insufficiency"@en; "ORPHA:101963" . a owl:Class; rdfs:subClassOf , ; "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern."; ; , , , ; "DOID:628", "ICD-10:D81.0", "ICD-10:D81.1", "ICD-10:D81.2", "ICD-10:D81.3", "ICD-10:D81.4", "ICD-10:D81.5", "ICD-10:D81.6", "ICD-10:D81.7", "ICD-10:D81.8", "ICD-10:D81.9", "ICD10:D81", "ICD10:D81.0", "ICD10:D81.1", "ICD10:D81.2", "ICD10:D81.3", "ICD10:D81.4", "ICD10:D81.5", "ICD10:D81.6", "ICD10:D81.7", "ICD10:D81.8", "ICD10:D81.9", "ICD9:279.2", "MONDO:0015131", "NCIT:C27871", "UMLS:C0494261"; "X-linked combined immunodeficiency", "combined immunodeficiency", "congenital combined immunodeficiency"; "combined T and B cell immunodeficiency", "combined T cell and B cell immunodeficiency"; "Orphanet:101972"; ; rdfs:label "Combined T and B cell immunodeficiency", "Combined T and B cell immunodeficiency"@en; "ORPHA:101972" . _:8b26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern."; "NCIT:C27871" . _:8b27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:628"; "MONDO:equivalentTo" . _:8b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.0"; "BTNT (broader term maps to a narrower term)"@en . _:8b2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.0"; "Specific code (The term has its own code in the ICD10)"@en . _:8b2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "BTNT (broader term maps to a narrower term)"@en . _:8b2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "Specific code (The term has its own code in the ICD10)"@en . _:8b2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "BTNT (broader term maps to a narrower term)"@en . _:8b31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Specific code (The term has its own code in the ICD10)"@en . _:8b32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.3"; "BTNT (broader term maps to a narrower term)"@en . _:8b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.3"; "Specific code (The term has its own code in the ICD10)"@en . _:8b37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.4"; "BTNT (broader term maps to a narrower term)"@en . _:8b38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.4"; "Specific code (The term has its own code in the ICD10)"@en . _:8b39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.5"; "BTNT (broader term maps to a narrower term)"@en . _:8b3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.5"; "Specific code (The term has its own code in the ICD10)"@en . _:8b3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.6"; "BTNT (broader term maps to a narrower term)"@en . _:8b3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.6"; "Specific code (The term has its own code in the ICD10)"@en . _:8b3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.7"; "BTNT (broader term maps to a narrower term)"@en . _:8b3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.7"; "Specific code (The term has its own code in the ICD10)"@en . _:8b40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "BTNT (broader term maps to a narrower term)"@en . _:8b41d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10904; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10904 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Specific code (The term has its own code in the ICD10)"@en . _:8b45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.9"; "BTNT (broader term maps to a narrower term)"@en . _:8b47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.9"; "Specific code (The term has its own code in the ICD10)"@en . _:8b4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81"; "DOID:628" . _:8b4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.0"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.1"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.3"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.4"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.5"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.6"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.7"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.9"; "DOID:628", "ORDO:101972/btnt", "ORDO:101972/specific", "Orphanet:101972" . _:8b5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.2"; "DOID:628" . _:8b5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27871"; "DOID:628", "MONDO:equivalentTo", "NCIT:C27871" . _:8b5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0494261"; "DOID:628", "MONDO:equivalentTo", "NCIT:C27871" . _:8b60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked combined immunodeficiency"; "DOID:628" . _:8b61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency"; "DOID:628" . _:8b62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital combined immunodeficiency"; "DOID:628", "NCIT:C27871" . _:8b63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital combined immunodeficiency"; rdfs:comment "preferred label from MONDO" . _:8b64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined T and B cell immunodeficiency"; "Orphanet:101972" . _:8b65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined T cell and B cell immunodeficiency"; "DOID:628" . _:8b66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101972" . a owl:Class; rdfs:subClassOf ; ; "ICD-10:D80.0", "ICD-10:D80.1", "ICD-10:D80.2", "ICD-10:D80.3", "ICD-10:D80.4", "ICD-10:D80.5", "ICD-10:D80.6", "ICD-10:D80.7", "ICD-10:D80.8", "ICD-10:D80.9", "ICD10:D80.0", "ICD10:D80.1", "ICD10:D80.2", "ICD10:D80.3", "ICD10:D80.4", "ICD10:D80.5", "ICD10:D80.6", "ICD10:D80.7", "ICD10:D80.8", "ICD10:D80.9", "MONDO:0015132"; "immunodeficiency predominantly affecting antibody production"; "Orphanet:101977"; ; rdfs:label "Immunodeficiency predominantly affecting antibody production", "Immunodeficiency predominantly affecting antibody production"@en; "ORPHA:101977" . _:8b6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.0"; "BTNT (broader term maps to a narrower term)"@en . _:8b6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.0"; "Specific code (The term has its own code in the ICD10)"@en . _:8b6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.1"; "BTNT (broader term maps to a narrower term)"@en . _:8b6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.1"; "Specific code (The term has its own code in the ICD10)"@en . _:8b71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.2"; "BTNT (broader term maps to a narrower term)"@en . _:8b72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.2"; "Specific code (The term has its own code in the ICD10)"@en . _:8b74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.3"; "BTNT (broader term maps to a narrower term)"@en . _:8b90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.3"; "Specific code (The term has its own code in the ICD10)"@en . _:8b91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.4"; "BTNT (broader term maps to a narrower term)"@en . _:8b93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.4"; "Specific code (The term has its own code in the ICD10)"@en . _:8b95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.5"; "BTNT (broader term maps to a narrower term)"@en . _:8b97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.5"; "Specific code (The term has its own code in the ICD10)"@en . _:8b99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.6"; "BTNT (broader term maps to a narrower term)"@en . _:8b9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.6"; "Specific code (The term has its own code in the ICD10)"@en . _:8b9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.7"; "BTNT (broader term maps to a narrower term)"@en . _:8b9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.7"; "Specific code (The term has its own code in the ICD10)"@en . _:8ba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.8"; "BTNT (broader term maps to a narrower term)"@en . _:8ba3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10946; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10946 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.8"; "Specific code (The term has its own code in the ICD10)"@en . _:8ba4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.9"; "BTNT (broader term maps to a narrower term)"@en . _:8ba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.9"; "Specific code (The term has its own code in the ICD10)"@en . _:8ba7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.0"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8ba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.1"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8babd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.2"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8baed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.3"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8bafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.4"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8bb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.5"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8bb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.6"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.7"; "MONDO:superClassOf", "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.8"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8bb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.9"; "ORDO:101977/btnt", "ORDO:101977/specific", "Orphanet:101977" . _:8bbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency predominantly affecting antibody production"; rdfs:comment "preferred label from MONDO" . _:8bbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101977" . a owl:Class; rdfs:subClassOf ; rdfs:label "Quantitative and/or qualitative congenital phagocyte defect"@en; "ORPHA:101985" . a owl:Class; rdfs:subClassOf , , , ; "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."; ; , ; "COHD:434895", "ICD-10:D70", "ICD10:D70", "MONDO:0015134", "NCIT:C61242"; "Kostmann disease", "Kostmann neutropenia", "Kostmann syndrome", "congenital neutropenia", "constitutional neutropenia", "genetic infantile agranulocytosis", "infantile genetic agranulocytosis"; "Orphanet:101987"; ; rdfs:label "Constitutional neutropenia", "Constitutional neutropenia"@en; "ORPHA:101987" . _:8bbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."; "NCIT:C61242" . _:8bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434895"; "MONDO:equivalentTo" . _:8bc2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid10964; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid10964 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Attributed"@en . _:8bc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:8bc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70"; "MONDO:relatedTo", "ORDO:101987/attributed", "ORDO:101987/ntbt", "Orphanet:101987" . _:8bcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61242"; "MONDO:equivalentTo" . _:8bcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kostmann disease"; "NCIT:C61242" . _:8bcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kostmann neutropenia"; "NCIT:C61242" . _:8bd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kostmann syndrome"; "NCIT:C61242" . _:8bd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital neutropenia"; "NCIT:C61242" . _:8bd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional neutropenia"; rdfs:comment "preferred label from MONDO" . _:8bd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic infantile agranulocytosis"; "NCIT:C61242" . _:8bd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile genetic agranulocytosis"; "NCIT:C61242" . _:8bd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101987" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0015135"; "primary immunodeficiency due to a genetic defect in innate immunity"; "primary immunodeficiency due to a defect in innate immunity"; "Orphanet:101988"; ; rdfs:label "Primary immunodeficiency due to a defect in innate immunity", "Primary immunodeficiency due to a defect in innate immunity"@en; "ORPHA:101988" . _:8bdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary immunodeficiency due to a genetic defect in innate immunity"; rdfs:comment "preferred label from MONDO" . _:8bdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary immunodeficiency due to a defect in innate immunity"; "Orphanet:101988" . _:8be2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101988" . a owl:Class; rdfs:subClassOf ; ; "ICD10:D84.1", "MONDO:0015136", "OMIM:609814", "OMIM:615561"; "immunodeficiency due to a genetic complement cascade protein anomaly"; "immunodeficiency due to a complement cascade protein anomaly"; "Orphanet:101992"; ; rdfs:comment "Editor note: consider merge, see https://docs.google.com/document/d/1wNW8wypaeo7fuBVfeplkD4RQ9-kuEQl0O9U5PdLintE/edit#"; rdfs:label "Immunodeficiency due to a complement cascade protein anomaly" . _:8be6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:101992/e", "ORDO:101992/specific", "Orphanet:101992" . _:8be9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to a genetic complement cascade protein anomaly"; rdfs:comment "preferred label from MONDO" . _:8bead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to a complement cascade protein anomaly"; "Orphanet:101992" . _:8bedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:101992" . a owl:Class; rdfs:subClassOf , ; "MedDRA:10064859", "OMIM:300988", "OMIM:609529", "OMIM:615593", "OMIM:615707", "OMIM:616345", "OMIM:616433", "OMIM:616740", "UMLS:C0398686"; rdfs:label "Primary immunodeficiency", "Primary immunodeficiency"@en; "ORPHA:101997" . _:8befd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064859"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8bf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300988"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8bf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609529"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8bf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616345"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8bf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616433"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8bf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616740"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8bf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398686"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:G40.0", "ICD-10:G40.1", "ICD-10:G40.2", "ICD-10:G40.3", "ICD-10:G40.4", "ICD-10:G40.5", "ICD-10:G40.6", "ICD-10:G40.7", "ICD-10:G40.8", "ICD-10:G40.9", "UMLS:C0014544"; rdfs:label "Rare epilepsy"@en; "ORPHA:101998" . _:8bfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.0"; "NTBT (narrower term maps to a broader term)"@en . _:8bffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.1"; "NTBT (narrower term maps to a broader term)"@en . _:8c00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.2"; "NTBT (narrower term maps to a broader term)"@en . _:8c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.3"; "NTBT (narrower term maps to a broader term)"@en . _:8c02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "NTBT (narrower term maps to a broader term)"@en . _:8c07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.5"; "NTBT (narrower term maps to a broader term)"@en . _:8c08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.6"; "NTBT (narrower term maps to a broader term)"@en . _:8c09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.7"; "NTBT (narrower term maps to a broader term)"@en . _:8c0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.8"; "NTBT (narrower term maps to a broader term)"@en . _:8c0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.9"; "NTBT (narrower term maps to a broader term)"@en . _:8c0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014544"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "MSA"@en, "Multisystem atrophy"@en; "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years."@en; "orphanet"@en; "ICD-10:G90.3", "MeSH:D019578", "MedDRA:10064060", "OMIM:146500", "UMLS:C0393571"; rdfs:label "Multiple system atrophy"@en; "ORPHA:102" . _:8c13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G90.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8c14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D019578"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8c16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064060"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8c17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8c18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0393571"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare ataxia"@en; "ORPHA:102002" . a owl:Class; rdfs:subClassOf ; "UMLS:C0026650"; rdfs:label "Rare movement disorder"@en; "ORPHA:102003" . _:8c1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Autosomal dominant form of limb-girdle muscular dystrophy."; , , , ; "DOID:0110273", "ICD10:G71.0", "MONDO:0015151", "OMIMPS:159000", "OMIMPS:603511", "UMLS:CN043626", "UMLS:CN228919"; "autosomal dominant limb-girdle muscular dystrophy", "limb-girdle muscular dystrophy, autosomal dominant", "muscular dystrophy, limb-girdle, autosomal dominant"; "Orphanet:102014"; ; rdfs:label "Autosomal dominant limb-girdle muscular dystrophy" . _:8c1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant form of limb-girdle muscular dystrophy."; "MONDO:patterns/autosomal_dominant" . _:8c20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110273"; "MONDO:equivalentTo" . _:8c22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:0110273", "MONDO:subClassOf", "ORDO:102014/attributed", "ORDO:102014/ntbt", "Orphanet:102014" . _:8c23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:159000"; "DOID:0110273", "MONDO:nonExistent" . _:8c24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:603511"; "MONDO:equivalentTo" . _:8c25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN043626"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:8c27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN228919"; "MEDGEN:kboom-pr93-c94", "MONDO:equivalentTo" . _:8c29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant limb-girdle muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:8c2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:8c2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, autosomal dominant"; "OMIMPS:159000" . _:8c2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102014" . a owl:Class; rdfs:subClassOf , ; "Autosomal recessive form of limb-girdle muscular dystrophy."; , , , ; "DOID:0110274", "ICD10:G71.0", "MESH:C538640", "MONDO:0015152", "OMIM:616094", "OMIM:616812", "OMIM:616827", "OMIM:617072", "OMIMPS:253600", "UMLS:C2931907"; "autosomal recessive limb-girdle muscular dystrophy", "limb-girdle muscular dystrophy, autosomal recessive", "muscular dystrophy, limb-girdle, autosomal recessive"; "Orphanet:102015"; ; rdfs:label "Autosomal recessive limb-girdle muscular dystrophy" . _:8c35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive form of limb-girdle muscular dystrophy."; "MONDO:patterns/autosomal_recessive" . _:8c36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110274"; "MONDO:equivalentTo" . _:8c37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:0110274", "MONDO:subClassOf", "ORDO:102015/attributed", "ORDO:102015/ntbt", "Orphanet:102015" . _:8c39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538640"; "MONDO:equivalentTo", "MONDO:ontobio" . _:8c3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616094"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8c3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616812"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8c3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616827"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8c3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617072"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8c3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:253600"; "DOID:0110274", "MONDO:equivalentTo" . _:8c41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931907"; "MONDO:equivalentTo", "ORDO:102015/e", "Orphanet:102015" . _:8c43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive limb-girdle muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:8c47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:8c49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, autosomal recessive"; "OMIMPS:253600" . _:8c4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102015" . a owl:Class; rdfs:subClassOf , ; ; ; "ICD10:Q93.0", "ICD10:Q93.1", "ICD10:Q93.2", "ICD10:Q93.3", "ICD10:Q93.4", "ICD10:Q93.5", "ICD10:Q93.6", "ICD10:Q93.7", "ICD10:Q93.8", "ICD10:Q93.9", "MONDO:0015153"; "Autosomal deletion", "autosomal deletion", "autosomal monosomy"; "Orphanet:102020"; ; rdfs:label "Autosomal monosomy" . _:8c4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.0"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.1"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.2"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.3"; "MONDO:relatedTo", "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.4"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.6"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.7"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.8"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.9"; "ORDO:102020/btnt", "ORDO:102020/specific", "Orphanet:102020" . _:8c5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal deletion"; "Orphanet:102020" . _:8c5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal monosomy"; rdfs:comment "preferred label from MONDO" . _:8c5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102020" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015159", "OMIM:617140", "UMLS:CN228396"; "MCA/MR", "Multiple congenital anomalies-intellectual disability with or without dysmorphism", "multiple congenital anomalies-intellectual disability with or without dysmorphism", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"; "Orphanet:102283"; ; rdfs:label "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability" . _:8c65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617140"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8c66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN228396"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:8c67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCA/MR"; "Orphanet:102283" . _:8c68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple congenital anomalies-intellectual disability with or without dysmorphism"; "Orphanet:102283" . _:8c6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"; rdfs:comment "preferred label from MONDO" . _:8c6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102283" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015163", "UMLS:CN197503"; "primary glomerular disease"; "Orphanet:102373"; ; rdfs:label "Primary glomerular disease" . _:8c71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197503"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:8c72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary glomerular disease"; rdfs:comment "preferred label from MONDO" . _:8c75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102373" . a owl:Class; rdfs:subClassOf ; "Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss."; "orphanet"; "ICD10:H47.2"; rdfs:label "Genetic optic atrophy" . a owl:Class; rdfs:subClassOf , , ; "Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure."; "Amelogenesis imperfecta-nephrocalcinosis syndrome"@en; "Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure."@en; "orphanet", "orphanet"@en; "ICD-10:K00.5", "ICD10:K00.5", "MSH:C538241", "MeSH:C538241", "OMIM:204690", "UMLS:C0403549", "UMLS:C2931783"; rdfs:label "Amelogenesis imperfecta - nephrocalcinosis", "Enamel-renal syndrome"@en; "ORPHA:1031" . _:8c7cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11055; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11055 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K00.5"; "Attributed"@en . _:8c7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K00.5"; "NTBT (narrower term maps to a broader term)"@en . _:8c81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538241"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8c82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:204690"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8c83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:204690"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8c84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0403549"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8c85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931783"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders.", "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures."; , , , ; "orphanet"; "GARD:0000777", "ICD10:Q74.3", "MONDO:0015168", "MSH:C536613", "MedDRA:10051643", "OMIM:108110", "UMLS:C2931264"; "AMC", "Amyoplasia congenita", "Arthromyodysplasia congenita", "Congenital amyoplasia", "Congenital arthromyodysplasia", "Multiple congenital arthrogryposis", "Myodysplasia", "amyoplasia congenita", "arthrogryposis multiplex congenita", "congenital amyoplasia", "congenital arthromyodysplasia", "multiple congenital arthrogryposis", "myodysplasia"; "Guerin-Stern syndrome", "Guérin-Stern syndrome", "Otto syndrome", "Rossi syndrome", "fibrous ankylosis of multiple joints", "myodystrophia fetalis deformans", "rocher-Sheldon syndrome"; "Orphanet:1037"; , ; rdfs:label "Arthrogryposis multiplex congenita" . _:8c8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures."; "Orphanet:1037" . _:8c8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000777"; "MONDO:equivalentTo", "Orphanet-shared" . _:8c8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q74.3"; "ORDO:1037/e", "ORDO:1037/specific", "Orphanet:1037" . _:8c92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051643"; "ORDO:1037/e", "Orphanet:1037" . _:8c93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMC"; "Orphanet:1037" . _:8c94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arthromyodysplasia congenita"; "Orphanet:1037" . _:8c95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amyoplasia congenita"; "Orphanet:1037" . _:8cb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis multiplex congenita"; rdfs:comment "preferred label from MONDO" . _:8cb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital amyoplasia"; "Orphanet:1037" . _:8cb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital arthromyodysplasia"; "Orphanet:1037" . _:8cb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple congenital arthrogryposis"; "Orphanet:1037" . _:8cb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myodysplasia"; "Orphanet:1037" . _:8cbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Guerin-Stern syndrome"; "GARD:0000777" . _:8cbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Guérin-Stern syndrome"; "GARD:0000777" . _:8cbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Otto syndrome"; "GARD:0000777" . _:8cbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rossi syndrome"; "GARD:0000777" . _:8cbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fibrous ankylosis of multiple joints"; "GARD:0000777" . _:8cc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myodystrophia fetalis deformans"; "GARD:0000777" . _:8cc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rocher-Sheldon syndrome"; "GARD:0000777" . _:8cc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1037" . a owl:Class; rdfs:subClassOf ; rdfs:label "Congenital intestinal motility disorder" . a owl:Class; rdfs:subClassOf ; "MeSH:D044483", "MedDRA:10057018", "UMLS:C0345891", "UMLS:C1257915"; rdfs:label "Intestinal polyposis syndrome"@en; "ORPHA:104010" . _:8cc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D044483"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8cc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10057018"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8cc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345891"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8ccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1257915"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Rare intestinal tumor"@en, "Rare tumor of bowel"@en; "UMLS:C0021841"; rdfs:label "Rare tumor of intestine"@en; "ORPHA:104011" . _:8cced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021841"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "UMLS:C0021390"; rdfs:label "Rare inflammatory bowel disease"@en; "ORPHA:104012" . _:8cd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021390"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "A metabolic disease that involves the intestine."; , ; "MONDO:0015188", "UMLS:CN197528"; "intestine metabolic disease", "metabolic disease of intestine", "metabolic disease with intestinal involvement"; "Orphanet:104013"; ; rdfs:label "Metabolic disease with intestinal involvement" . _:8cd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A metabolic disease that involves the intestine."; "MONDO:patterns/location" . _:8cd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197528"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:8cd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestine metabolic disease"; "MONDO:patterns/location" . _:8cd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease of intestine"; "MONDO:design_pattern" . _:8cd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease with intestinal involvement"; rdfs:comment "preferred label from MONDO" . _:8cdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:104013" . a owl:Class; rdfs:subClassOf , , , , , ; "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days."; ; , , ; "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days."@en; "orphanet"@en; "GARD:0005808", "ICD-10:Q00.0", "ICD10:Q00.0", "ICD9:740.0", "MONDO:0008791", "OMIM:206500", "SCTID:89369001"; "isolated anencephaly/exencephaly"; "ANPH", "absence of a large part of the brain and the skull", "anencephaly", "anencephaly; ANPH"; "Orphanet:1048"; ; rdfs:label "Isolated anencephaly/exencephaly", "Isolated anencephaly/exencephaly"@en; "ORPHA:1048" . _:8cdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days."; "Orphanet:1048" . _:8cdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005808"; "MONDO:equivalentTo", "Orphanet-shared" . _:8cddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q00.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8cdfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11098; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11098 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q00.0"; "Specific code (The term has its own code in the ICD10)"@en . _:8ce1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q00.0"; "ORDO:1048/e", "ORDO:1048/specific", "Orphanet:1048" . _:8ce3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:740.0"; "MONDO:equivalentTo", "i2s" . _:8ce5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:206500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8ce7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:206500"; "MONDO:equivalentTo", "ORDO:1048/e", "Orphanet:1048" . _:8ce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:89369001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.69/0.37/0.08" . _:8cebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated anencephaly/exencephaly"; rdfs:comment "preferred label from MONDO" . _:8cecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANPH"; "OMIM:206500" . _:8cedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "absence of a large part of the brain and the skull"; "GARD:0005808" . _:8ceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anencephaly"; "OMIM:206500" . _:8cf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anencephaly; ANPH"; "OMIM:206500" . _:8cf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1048" . a owl:Class; rdfs:subClassOf , , , ; "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development."; , , , , ; "Urethral atresia"@en; "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development."@en; "orphanet"@en; "HP:0000068", "ICD-10:Q64.3", "ICD10:Q64.3", "MONDO:0015195", "MedDRA:10064895", "SCTID:253902002", "UMLS:C0345345", "UMLS:C1610065"; "atresia of urethra", "atresia of urethra (disease)", "urethral atresia"; "Orphanet:105"; ; rdfs:label "Atresia of urethra", "Atresia of urethra"@en; "ORPHA:105" . _:8cfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development."; "Orphanet:105" . _:8cfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000068"; "MONDO:otherHierarchy", "ontobio" . _:8d00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q64.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d02d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11114; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11114 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q64.3"; "Specific code (The term has its own code in the ICD10)"@en . _:8d05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q64.3"; "MONDO:relatedTo", "ORDO:105/e", "ORDO:105/specific", "Orphanet:105" . _:8d07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064895"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064895"; "ORDO:105/e", "Orphanet:105" . _:8d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:253902002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:8d0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345345"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1610065"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of urethra"; "MONDO:ambiguous" . _:8d11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of urethra (disease)"; rdfs:comment "preferred label from MONDO" . _:8d12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urethral atresia"; "Orphanet:105" . _:8d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:105" . a owl:Class; rdfs:subClassOf , , , , , , ; "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974."; , , , , , ; "Sommer-Rathbun-Battles syndrome"@en; "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974."@en; "orphanet", "orphanet"@en; "GARD:0000690", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:C000598722", "MONDO:0008796", "MSH:C536371", "MeSH:C536371", "OMIM:206750", "SCTID:733116005", "UMLS:C1859782"; "Sommer-Rathbun-Battles syndrome", "aniridia-renal agenesis-psychomotor retardation syndrome"; "Sommer Rathbun Battles syndrome", "aniridia partial with unilateral renal agenesis and psychomotor retardation", "aniridia renal agenesis psychomotor retardation", "aniridia, partial, with unilateral renal agenesis and psychomotor retardation"; "Orphanet:1064"; ; rdfs:label "Aniridia - renal agenesis - psychomotor retardation", "Aniridia-renal agenesis-psychomotor retardation syndrome"@en; "ORPHA:1064" . _:8d18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974."; "Orphanet:1064" . _:8d1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000690"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:8d1bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11128; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11128 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:8d20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:8d21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:1064/attributed", "ORDO:1064/ntbt", "Orphanet:1064" . _:8d23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C000598722"; "MONDO:equivalentTo", "MONDO:ontobio" . _:8d24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536371"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:206750"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:206750"; "MONDO:equivalentTo", "ORDO:1064/e", "Orphanet:1064" . _:8d27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:733116005"; "MONDO:equivalentTo" . _:8d2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1859782"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1859782"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:206750", "ORDO:1064/e", "Orphanet:1064" . _:8d2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sommer-Rathbun-Battles syndrome"; "Orphanet:1064" . _:8d30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aniridia-renal agenesis-psychomotor retardation syndrome"; rdfs:comment "preferred label from MONDO" . _:8d32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sommer Rathbun Battles syndrome"; "GARD:0000690" . _:8d33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aniridia partial with unilateral renal agenesis and psychomotor retardation"; "GARD:0000690" . _:8d35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aniridia renal agenesis psychomotor retardation"; "GARD:0000690" . _:8d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aniridia, partial, with unilateral renal agenesis and psychomotor retardation"; "OMIM:206750" . _:8d38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1064" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).", "The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck."; ; , , , , , , , ; "Branchiootorenal syndrome"@en; "Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)."@en; "orphanet"@en; "DOID:14702", "EFO:1001251", "GARD:0010147", "ICD-10:Q87.8", "ICD10:Q87.8", "ICD9:759.89", "MESH:D019280", "MONDO:0007029", "MSH:D019280", "MeSH:D019280", "MedDRA:10071135", "NCIT:C98983", "NCIt:C98983", "OMIM:113650", "OMIM:610896", "Orphanet107", "SCTID:290006", "SNOMEDCT:205806009", "SNOMEDCT:290006", "UMLS:C0265234", "UMLS:CN043574", "Wikipedia:Branchio-oto-renal_syndrome"; "BOR", "Branchio-Oto-renal syndrome", "Branchio-otorenal dysplasia", "Branchiootorenal syndrome", "Melnick-Fraser syndrome", "branchio-oto-renal syndrome", "branchiootorenal dysplasia", "branchiootorenal syndrome"; "Branchio oto renal syndrome", "bor syndrome"; "Orphanet:107"; ; rdfs:comment "(from orpha.net)nSummarynnBranchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required."; rdfs:label "BOR syndrome", "BOR syndrome"@en; "ORPHA:107" . _:8d3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)."; "Orphanet:107" . _:8d3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14702"; "EFO:1001251", "MONDO:equivalentTo" . _:8d41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1001251"; "MONDO:equivalentTo" . _:8d42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010147"; "MONDO:equivalentTo", "Orphanet-shared" . _:8d46d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11150; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11150 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:8d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:8d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:107/attributed", "ORDO:107/ntbt", "Orphanet:107" . _:8d4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:8d4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019280"; "DOID:14702", "EFO:1001251", "MONDO:equivalentTo", "ORDO:107/e", "Orphanet:107" . _:8d51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D019280"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071135"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071135"; "ORDO:107/e", "Orphanet:107" . _:8d57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98983"; "DOID:14702", "EFO:1001251", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.74/1.29" . _:8d58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:113650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610896"; "BTNT (broader term maps to a narrower term)"@en . _:8d5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet107"; "EFO:1001251" . _:8d5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:290006"; "DOID:14702", "EFO:1001251", "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.75/2.20" . _:8d5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265234"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265234"; "DOID:14702", "EFO:1001251", "MONDO:equivalentTo", "NCIT:C98983", "ORDO:107/e", "Orphanet:107" . _:8d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN043574"; "MONDO:equivalentTo" . _:8d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wikipedia:Branchio-oto-renal_syndrome"; "EFO:1001251" . _:8d61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Branchio-Oto-renal syndrome"; "DOID:14702", "MTH:NOCODE" . _:8d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Branchio-otorenal dysplasia"; "DOID:14702" . _:8d65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Melnick-Fraser syndrome"; "DOID:14702" . _:8d66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "branchio-oto-renal syndrome"; rdfs:comment "preferred label from MONDO" . _:8d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "branchiootorenal dysplasia"; "DOID:14702" . _:8d6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "branchiootorenal syndrome"; "Orphanet:107" . _:8d71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Branchio oto renal syndrome"; "GARD:0010147" . _:8d73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bor syndrome"; "Orphanet:107" . _:8d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:107" . _:8d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "(from orpha.net)nSummarynnBranchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required."; "EFO:1001251" . a owl:Class; rdfs:subClassOf , ; "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years."; , ; "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years."@en; "orphanet"@en; "ICD-10:Q04.3", "ICD10:Q04.3", "MONDO:0015204", "OMIM:614019", "OMIM:616212", "UMLS:C1956147"; "microlissencephaly"; "Orphanet:1083"; ; rdfs:label "Microlissencephaly", "Microlissencephaly"@en; "ORPHA:1083" . _:8d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years."; "Orphanet:1083" . _:8d7bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11179; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11179 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:8d7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "NTBT (narrower term maps to a broader term)"@en . _:8d7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "ORDO:1083/inclusion", "ORDO:1083/ntbt", "Orphanet:1083" . _:8d7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614019"; "BTNT (broader term maps to a narrower term)"@en . _:8d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616212"; "BTNT (broader term maps to a narrower term)"@en . _:8d80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1956147"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1956147"; "MONDO:equivalentTo", "Orphanet:1083" . _:8d82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microlissencephaly"; rdfs:comment "preferred label from MONDO" . _:8d83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1083" . a owl:Class; rdfs:subClassOf ; "A gastroduodenal malformation that is not part of a larger syndrome."; ; "MONDO:0015209"; "isolated gastroduodenal malformation", "non-syndromic gastroduodenal malformation", "nonsyndromic gastroduodenal malformation"; "isolated gastroduodenal malformation"; "Orphanet:108963"; ; rdfs:label "Non-syndromic gastroduodenal malformation" . _:8d85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A gastroduodenal malformation that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:8d86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic gastroduodenal malformation"; rdfs:comment "preferred label from MONDO" . _:8d88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic gastroduodenal malformation"; "MONDO:DesignPattern", "MONDO:patterns/isolated" . _:8d8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated gastroduodenal malformation"; "MONDO:DesignPattern" . _:8d8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108963" . a owl:Class; rdfs:subClassOf ; "A intestinal malformation that is not part of a larger syndrome."; ; "MONDO:0015211"; "isolated intestinal malformation", "non-syndromic intestinal malformation", "nonsyndromic intestinal malformation"; "isolated intestinal malformation"; "Orphanet:108967"; ; rdfs:label "Non-syndromic intestinal malformation" . _:8d8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A intestinal malformation that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:8d90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic intestinal malformation"; rdfs:comment "preferred label from MONDO" . _:8d91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic intestinal malformation"; "MONDO:DesignPattern", "MONDO:patterns/isolated" . _:8d92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated intestinal malformation"; "MONDO:DesignPattern" . _:8d93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108967" . a owl:Class; rdfs:subClassOf , ; "A intestinal malformation that is part of a larger syndrome."; , ; "MONDO:0015212", "UMLS:CN226629"; "syndrome associated with intestinal malformation", "syndromic intestinal malformation"; "syndrome associated with intestinal malformation"; "Orphanet:108969"; ; rdfs:label "Syndromic intestinal malformation" . _:8d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A intestinal malformation that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:8d9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226629"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:8d9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with intestinal malformation"; "MONDO:patterns/syndromic" . _:8d9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic intestinal malformation"; "MONDO:patterns/syndromic" . _:8da0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic intestinal malformation"; rdfs:comment "preferred label from MONDO" . _:8da1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with intestinal malformation"; "MONDO:patterns/syndromic" . _:8da4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108969" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0015213"; "non-syndromic visceral malformation", "nonsyndromic visceral malformation"; "isolated visceral malformation"; "Orphanet:108971"; ; rdfs:label "Non-syndromic visceral malformation" . _:8dbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic visceral malformation"; rdfs:comment "preferred label from MONDO" . _:8dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic visceral malformation"; "MONDO:DesignPattern" . _:8dbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated visceral malformation"; "MONDO:DesignPattern" . _:8dbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108971" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015214", "UMLS:CN226631"; "syndromic visceral malformation"; "Orphanet:108973"; ; rdfs:label "Syndromic visceral malformation" . _:8dc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226631"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:8dc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic visceral malformation"; rdfs:comment "preferred label from MONDO" . _:8dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108973" . a owl:Class; rdfs:subClassOf ; "A developmental defect of the eye that is not part of a larger syndrome."; ; "MONDO:0015217"; "isolated developmental defect of the eye", "non-syndromic developmental defect of the eye", "nonsyndromic developmental defect of the eye"; "isolated developmental defect of the eye"; "Orphanet:108985"; ; rdfs:label "Non-syndromic developmental defect of the eye" . _:8dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A developmental defect of the eye that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:8dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic developmental defect of the eye"; rdfs:comment "preferred label from MONDO" . _:8dccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic developmental defect of the eye"; "MONDO:DesignPattern", "MONDO:patterns/isolated" . _:8dcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated developmental defect of the eye"; "MONDO:DesignPattern" . _:8dd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108985" . a owl:Class; rdfs:subClassOf , ; "A developmental defect of the eye that is part of a larger syndrome."; , ; "MONDO:0015218", "UMLS:CN226635"; "Anomalie syndromique du développement des yeux", "syndrome associated with developmental defect of the eye", "syndromic developmental defect of the eye"; "syndrome associated with developmental defect of the eye"; "Orphanet:108987"; ; rdfs:label "Syndromic developmental defect of the eye" . _:8dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A developmental defect of the eye that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:8ddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226635"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:8ddfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with developmental defect of the eye"; "MONDO:patterns/syndromic" . _:8de1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic developmental defect of the eye"; "MONDO:patterns/syndromic" . _:8de3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic developmental defect of the eye"; rdfs:comment "preferred label from MONDO" . _:8de5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with developmental defect of the eye"; "MONDO:patterns/syndromic" . _:8de6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108987" . a owl:Class; rdfs:subClassOf ; rdfs:label "Non-syndromic central nervous system malformation"@en; "ORPHA:108989" . a owl:Class; rdfs:subClassOf ; "A respiratory or mediastinal malformation that is not part of a larger syndrome."; ; "MONDO:0015221"; "isolated respiratory or mediastinal malformation", "non-syndromic respiratory or mediastinal malformation", "nonsyndromic respiratory or mediastinal malformation"; "isolated respiratory or mediastinal malformation"; "Orphanet:108993"; ; rdfs:label "Non-syndromic respiratory or mediastinal malformation" . _:8de7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A respiratory or mediastinal malformation that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:8de8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic respiratory or mediastinal malformation"; rdfs:comment "preferred label from MONDO" . _:8de9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic respiratory or mediastinal malformation"; "MONDO:DesignPattern", "MONDO:patterns/isolated" . _:8dead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated respiratory or mediastinal malformation"; "MONDO:DesignPattern" . _:8debd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108993" . a owl:Class; rdfs:subClassOf ; "UMLS:C0002871"; rdfs:label "Rare anemia"@en; "ORPHA:108997" . _:8decd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002871"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare disorder due to toxic effects"@en; "ORPHA:108999" . a owl:Class; rdfs:subClassOf ; , , ; "ICD10:Q68.8", "MONDO:0015225", "MSH:D001176", "UMLS:C0003886"; "arthrogryposis syndrome"; "Orphanet:109007"; , ; rdfs:label "Arthrogryposis syndrome" . _:8df1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q68.8"; "ORDO:109007/attributed", "ORDO:109007/ntbt", "Orphanet:109007" . _:8df2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis syndrome"; rdfs:comment "preferred label from MONDO" . _:8df4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:109007" . a owl:Class; rdfs:subClassOf , , ; ; "MONDO:0015227"; "non-syndromic limb malformation", "nonsyndromic limb malformation"; "isolated limb malformation"; "Orphanet:109011"; ; rdfs:label "Non-syndromic limb malformation", "Non-syndromic limb malformation"@en; "ORPHA:109011" . _:8df7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic limb malformation"; rdfs:comment "preferred label from MONDO" . _:8df8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic limb malformation"; "MONDO:DesignPattern" . _:8df9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated limb malformation"; "MONDO:DesignPattern" . _:8dfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:109011" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , , ; "Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement."; , , , , , , ; "BBS"@en; "Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement."@en; "orphanet"@en; "DOID:1935", "GARD:0006866", "ICD-10:Q87.8", "ICD10:Q87.8", "ICD10:Q87.89", "ICD9:759.89", "MESH:D020788", "MONDO:0015229", "MSH:D020788", "MeSH:D020788", "MedDRA:10056715", "NCIT:C118632", "OMIM:209900", "OMIM:600151", "OMIM:605231", "OMIM:615981", "OMIM:615982", "OMIM:615983", "OMIM:615984", "OMIM:615985", "OMIM:615986", "OMIM:615987", "OMIM:615988", "OMIM:615989", "OMIM:615990", "OMIM:615991", "OMIM:615992", "OMIM:615993", "OMIM:615994", "OMIM:615995", "OMIM:615996", "OMIM:617119", "OMIM:617406", "OMIMPS:209900", "SCTID:5619004", "UMLS:C0752166"; "BBS", "Bardet-Biedl syndrome", "Laurence-Moon syndrome", "Laurence-Moon-Bardet-Biedl syndrome", "Laurence-Moon-Biedl syndrome"; "Orphanet:110"; , ; rdfs:label "Bardet-Biedl syndrome", "Bardet-Biedl syndrome"@en; "ORPHA:110" . _:8e0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement."; "Orphanet:110" . _:8e0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1935"; "MONDO:equivalentTo" . _:8e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006866"; "MONDO:equivalentTo" . _:8e10d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11241; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11241 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:8e12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:8e15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:110/inclusion", "ORDO:110/ntbt", "Orphanet:110" . _:8e17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.89"; "DOID:1935" . _:8e19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:8e1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020788"; "DOID:1935", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:110/e", "Orphanet:110" . _:8e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020788"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056715"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8e1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056715"; "ORDO:110/e", "Orphanet:110" . _:8e1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C118632"; "DOID:1935", "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.85/1.58" . _:8e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209900"; "BTNT (broader term maps to a narrower term)"@en . _:8e25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600151"; "BTNT (broader term maps to a narrower term)"@en . _:8e27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605231"; "BTNT (broader term maps to a narrower term)"@en . _:8e29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615981"; "BTNT (broader term maps to a narrower term)"@en . _:8e2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615982"; "BTNT (broader term maps to a narrower term)"@en . _:8e2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615983"; "BTNT (broader term maps to a narrower term)"@en . _:8e2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615984"; "BTNT (broader term maps to a narrower term)"@en . _:8e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615985"; "BTNT (broader term maps to a narrower term)"@en . _:8e2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615986"; "BTNT (broader term maps to a narrower term)"@en . _:8e30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615987"; "BTNT (broader term maps to a narrower term)"@en . _:8e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615988"; "BTNT (broader term maps to a narrower term)"@en . _:8e32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615989"; "BTNT (broader term maps to a narrower term)"@en . _:8e34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615990"; "BTNT (broader term maps to a narrower term)"@en . _:8e36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615991"; "BTNT (broader term maps to a narrower term)"@en . _:8e37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615992"; "BTNT (broader term maps to a narrower term)"@en . _:8e38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615993"; "BTNT (broader term maps to a narrower term)"@en . _:8e39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615993"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8e3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615994"; "BTNT (broader term maps to a narrower term)"@en . _:8e3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615994"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8e3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615995"; "BTNT (broader term maps to a narrower term)"@en . _:8e3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615995"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8e41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615996"; "BTNT (broader term maps to a narrower term)"@en . _:8e42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615996"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8e43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617119"; "BTNT (broader term maps to a narrower term)"@en . _:8e44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617119"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8e46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617406"; "BTNT (broader term maps to a narrower term)"@en . _:8e49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617406"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8e4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:209900"; "DOID:1935", "MONDO:equivalentTo" . _:8e4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:5619004"; "DOID:1935", "MONDO:equivalentTo", "MONDO:kboom-pr-0.95/0.83/1.43" . _:8e4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0752166"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8e4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0752166"; "DOID:1935", "MONDO:equivalentTo", "NCIT:C118632", "ORDO:110/e", "Orphanet:110" . _:8e51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBS"; "Orphanet:110" . _:8e53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bardet-Biedl syndrome"; rdfs:comment "preferred label from MONDO" . _:8e55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laurence-Moon syndrome"; "NCIT:C118632" . _:8e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laurence-Moon-Bardet-Biedl syndrome"; "NCIT:C118632" . _:8e5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laurence-Moon-Biedl syndrome"; "NCIT:C118632" . _:8e5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:110" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria."; , , , , , , ; "3-methylglutaconic aciduria type 2"@en, "BTHS"@en, "Cardioskeletal myopathy with neutropenia and abnormal mitochondria"@en, "Cardioskeletal myopathy-neutropenia syndrome"@en, "MGA2"@en, "X-linked cardioskeletal myopathy and neutropenia"@en; "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria."@en; "orphanet", "orphanet"@en; "DOID:0050476", "GARD:0005890", "ICD-10:E71.1", "ICD10:E71.1", "ICD10:E78.71", "MESH:D056889", "MONDO:0010543", "MSH:D056889", "MeSH:D056889", "NCIT:C84585", "OMIM:302060", "SCTID:297231002", "UMLS:C0574083"; "3-Methylglutaconicaciduria type 2", "3-Methylglutaconicaciduria type II", "3-methylglutaconic aciduria type 2", "BTHS", "Barth syndrome", "Cardioskeletal myopathy with neutropenia and abnormal mitochondria", "Cardioskeletal myopathy-neutropenia", "MGA type 2", "MGA type II", "MGA2", "X-linked cardioskeletal myopathy and neutropenia", "cardioskeletal myopathy with neutropenia and abnormal mitochondria", "cardioskeletal myopathy-neutropenia syndrome"; "3-Methylglutaconic aciduria, type 2", "3-methylglutaconic aciduria type II", "BARTH syndrome; BTHS", "Mga, type 2", "TAZ defect"; "Orphanet:111"; , ; rdfs:label "Barth syndrome", "Barth syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome"^^xsd:anyURI; "ORPHA:111" . _:8e66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria."; "Orphanet:111" . _:8e67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050476"; "MONDO:equivalentTo" . _:8e68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005890"; "MONDO:equivalentTo" . _:8e69d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11292; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "Attributed"@en . _:8e6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "NTBT (narrower term maps to a broader term)"@en . _:8e73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "ORDO:111/attributed", "ORDO:111/ntbt", "Orphanet:111" . _:8e76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E78.71"; "DOID:0050476", "MONDO:equivalentTo" . _:8e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056889"; "DOID:0050476", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:111/e", "Orphanet:111" . _:8e7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D056889"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8e7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84585"; "DOID:0050476", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:8e7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:302060"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8e7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:302060"; "DOID:0050476", "MONDO:equivalentTo", "ORDO:111/e", "Orphanet:111" . _:8e7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:297231002"; "DOID:0050476", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:8e80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0574083"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8e81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0574083"; "DOID:0050476", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84585", "OMIM:302060", "ORDO:111/e", "Orphanet:111" . _:8e83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-Methylglutaconicaciduria type 2"; "DOID:0050476" . _:8e84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-Methylglutaconicaciduria type II"; "DOID:0050476" . _:8e86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-methylglutaconic aciduria type 2"; "Orphanet:111" . _:8e88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BTHS"; "MONDO:Lexical", "OMIM:302060", "Orphanet:111" . _:8e89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Barth syndrome"; "MONDO:Lexical", "OMIM:302060" . _:8e8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Barth syndrome"; rdfs:comment "preferred label from MONDO" . _:8e8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGA type 2"; "DOID:0050476" . _:8e8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGA type II"; "DOID:0050476" . _:8e8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGA2"; "Orphanet:111" . _:8e90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked cardioskeletal myopathy and neutropenia"; "Orphanet:111" . _:8e92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardioskeletal myopathy with neutropenia and abnormal mitochondria"; "Orphanet:111" . _:8e94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardioskeletal myopathy-neutropenia syndrome"; "Orphanet:111" . _:8e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-Methylglutaconic aciduria, type 2"; "OMIM:302060" . _:8e98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-methylglutaconic aciduria type II"; "GARD:0005890" . _:8e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BARTH syndrome; BTHS"; "OMIM:302060" . _:8e9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mga, type 2"; "OMIM:302060" . _:8e9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TAZ defect"; "GARD:0005890" . _:8e9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005890" . _:8ea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:111" . _:8ea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome"^^xsd:anyURI; "GARD:0005890" . a owl:Class; rdfs:subClassOf , , , ; "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."; , ; , , , , , , , ; "Renal tubular normotensive hypokalemic alkalosis with hypercalciuria"@en, "Salt-losing tubular disorder, Henle's loop type"@en, "Salt-wasting tubulopathy, Henle's loop type"@en; "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."@en; "orphanet", "orphanet"@en; "COHD:45769152", "DOID:445", "GARD:0005893", "ICD-10:E26.8", "ICD10:E26.8", "ICD10:E26.81", "ICD9:255.13", "MESH:D001477", "MONDO:0015231", "MSH:D001477", "MeSH:D001477", "MedDRA:10050839", "NCIT:C34412", "OMIM:241200", "OMIM:300971", "OMIM:601198", "OMIM:601678", "OMIM:602522", "OMIM:607364", "OMIM:613090", "OMIMPS:601678", "SCTID:707742001", "UMLS:C0004775", "UMLS:C0085570"; "Bartter disease", "Bartter syndrome", "Bartter's syndrome", "Renal tubular normotensive hypokalemic alkalosis with hypercalciuria", "Salt-losing tubular disorder, Henle's loop type", "Salt-wasting tubulopathy, Henle's loop type", "aldosteronism with hyperplasia of the adrenal cortex", "hypokalemic alkalosis", "renal tubular normotensive hypokalemic alkalosis with hypercalciuria", "salt-losing tubular disorder, Henle's loop type", "salt-wasting tubulopathy, Henle's loop type"; "Potassium wasting", "hypokalemic alkalosis with hypercalciuria"; "Orphanet:112"; , ; rdfs:label "Bartter syndrome", "Bartter syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome"^^xsd:anyURI; "ORPHA:112" . _:8ea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."; "Orphanet:112" . _:8eacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:45769152"; "MONDO:equivalentTo" . _:8eaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:445"; "MONDO:equivalentTo" . _:8eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005893"; "MONDO:equivalentTo" . _:8eb3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11329; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11329 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:8eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.8"; "NTBT (narrower term maps to a broader term)"@en . _:8eb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.8"; "ORDO:112/inclusion", "ORDO:112/ntbt", "Orphanet:112" . _:8eb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.81"; "DOID:445" . _:8ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.13"; "DOID:445", "MONDO:equivalentTo", "i2s" . _:8ebdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001477"; "DOID:445", "MONDO:equivalentTo", "ORDO:112/e", "Orphanet:112" . _:8ee6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001477"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8ee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050839"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8eead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050839"; "ORDO:112/e", "Orphanet:112" . _:8eebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34412"; "DOID:445", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/25.88" . _:8ef0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:241200"; "BTNT (broader term maps to a narrower term)"@en . _:8ef1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300971"; "BTNT (broader term maps to a narrower term)"@en . _:8ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601198"; "NTBT (narrower term maps to a broader term)"@en . _:8ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601678"; "BTNT (broader term maps to a narrower term)"@en . _:8ef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602522"; "BTNT (broader term maps to a narrower term)"@en . _:8ef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607364"; "BTNT (broader term maps to a narrower term)"@en . _:8ef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613090"; "BTNT (broader term maps to a narrower term)"@en . _:8ef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:601678"; "DOID:445", "MONDO:equivalentTo" . _:8efad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:707742001"; "DOID:445", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.04" . _:8efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004775"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8efdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004775"; "DOID:445", "GARD:0005893", "MONDO:equivalentTo", "NCIT:C34412", "ORDO:112/e", "Orphanet:112" . _:8efed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085570"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:8f01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bartter disease"; "MONDO:0003006" . _:8f02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bartter syndrome"; rdfs:comment "preferred label from MONDO" . _:8f04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bartter's syndrome"; "DOID:445", "GARD:0005893", "ICD9CM_2006:255.13" . _:8f09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aldosteronism with hyperplasia of the adrenal cortex"; "DOID:445" . _:8f0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypokalemic alkalosis"; "NCIT:C34412" . _:8f0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular normotensive hypokalemic alkalosis with hypercalciuria"; "Orphanet:112" . _:8f12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "salt-losing tubular disorder, Henle's loop type"; "Orphanet:112" . _:8f15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "salt-wasting tubulopathy, Henle's loop type"; "Orphanet:112" . _:8f16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Potassium wasting"; "GARD:0005893" . _:8f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypokalemic alkalosis with hypercalciuria"; "GARD:0005893" . _:8f1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005893" . _:8f1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:112" . _:8f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome"^^xsd:anyURI; "GARD:0005893" . a owl:Class; rdfs:subClassOf , ; "Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type."; ; , , , , ; "Oculomotor apraxia, Cogan type"@en; "Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type."@en; "orphanet"@en; "GARD:0000016", "ICD-10:H51.8", "ICD10:H51.8", "MESH:C537423", "MONDO:0009764", "MSH:C537423", "MeSH:C537423", "OMIM:257550", "SCTID:405809000", "UMLS:C0543874"; "Oculomotor apraxia, Cogan type", "ocular motor apraxia, Cogan type", "oculomotor apraxia, Cogan type"; "COMA", "Cogan syndrome type 2", "Cogan's syndrome type 2", "congenital oculomotor apraxia", "ocular motor apraxia", "oculomotor apraxia Cogan type", "saccade initiation failure congenital", "saccade initiation failure, congenital"; "Orphanet:1125"; , ; rdfs:label "Ocular motor apraxia, Cogan type", "Ocular motor apraxia, Cogan type"@en; "ORPHA:1125" . _:8f26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type."; "Orphanet:1125" . _:8f28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000016"; "MONDO:equivalentTo" . _:8f2ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11367; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11367 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H51.8"; "Index term"@en . _:8f2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H51.8"; "NTBT (narrower term maps to a broader term)"@en . _:8f2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H51.8"; "ORDO:1125/index", "ORDO:1125/ntbt", "Orphanet:1125" . _:8f2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537423"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1125/e", "Orphanet:1125" . _:8f30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537423"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8f31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:257550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8f32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:257550"; "GARD:0000016", "MONDO:equivalentTo", "ORDO:1125/e", "Orphanet:1125" . _:8f33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:405809000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.37/0.52" . _:8f34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0543874"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8f35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular motor apraxia, Cogan type"; rdfs:comment "preferred label from MONDO" . _:8f37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor apraxia, Cogan type"; "OMIM:257550", "Orphanet:1125" . _:8f39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COMA"; "GARD:0000016" . _:8f3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cogan's syndrome type 2"; "GARD:0000016" . _:8f3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital oculomotor apraxia"; "GARD:0000016" . _:8f3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular motor apraxia"; "OMIM:257550" . _:8f3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor apraxia Cogan type"; "GARD:0000016" . _:8f3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "saccade initiation failure congenital"; "GARD:0000016" . _:8f40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "saccade initiation failure, congenital"; "OMIM:257550" . _:8f42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1125" . a owl:Class; rdfs:subClassOf , , , , , ; "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait."; , , , , ; "Acrorenal defect-ectodermal dysplasia-diabetes syndrome"@en; "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait."@en; "orphanet"@en; "GARD:0008509", "ICD-10:Q87.8", "ICD10:Q87.8", "ICD9:753.3", "MESH:C537427", "MONDO:0008812", "MSH:C537427", "MeSH:C537427", "OMIM:207780", "SCTID:237610008", "UMLS:C0342280"; "AREDYLD syndrome", "Acrorenal defect - ectodermal dysplasia - diabetes", "acrorenal defect-ectodermal dysplasia-diabetes syndrome"; "AREDYLD", "acral renal ectodermal dysplasia lipoatrophic diabetes", "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes"; "Orphanet:1133"; ; rdfs:label "AREDYLD syndrome", "AREDYLD syndrome"@en; "ORPHA:1133" . _:8f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait."; "Orphanet:1133" . _:8f47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008509"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:8f4bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11389; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11389 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:8f4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:8f4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:1133/attributed", "ORDO:1133/ntbt", "Orphanet:1133" . _:8f52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:753.3"; "MONDO:relatedTo", "i2s" . _:8f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537427"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1133/e", "Orphanet:1133" . _:8f57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537427"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8f59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:207780"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8f5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:207780"; "MONDO:equivalentTo", "ORDO:1133/e", "Orphanet:1133" . _:8f5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237610008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.90" . _:8f5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342280"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8f5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342280"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:207780", "ORDO:1133/e", "Orphanet:1133" . _:8f62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AREDYLD syndrome"; rdfs:comment "preferred label from MONDO" . _:8f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrorenal defect-ectodermal dysplasia-diabetes syndrome"; "Orphanet:1133" . _:8f68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AREDYLD"; "OMIM:207780" . _:8f6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acral renal ectodermal dysplasia lipoatrophic diabetes"; "GARD:0008509" . _:8f6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes"; "OMIM:207780" . _:8f6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1133" . a owl:Class; rdfs:subClassOf ; "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.", "Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy."; , , , , , ; "orphanet"; "DOID:0090124", "GARD:0000790", "ICD10:Q74.3", "MESH:C536614", "MONDO:0008823", "MSH:C536614", "OMIM:208100", "OMIM:617468", "SCTID:715316005", "UMLS:C1859721"; "AMC neurogenic type", "AMCN", "arthrogryposis multiplex congenita neurogenic type", "neurogenic arthrogryposis multiplex congenita"; "AMC, neurogenic type", "arthrogryposis multiplex congenita, neurogenic type", "arthrogryposis multiplex congenita, neurogenic type; AMCN", "neurogenic type of AMC"; "Orphanet:1143"; ; rdfs:label "Neurogenic arthrogryposis multiplex congenita" . _:8f75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy."; "Orphanet:1143" . _:8f76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090124"; "MONDO:equivalentTo" . _:8f77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000790"; "MONDO:equivalentTo", "OMIM-shared" . _:8f78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q74.3"; "DOID:0090124", "ORDO:1143/attributed", "ORDO:1143/ntbt", "Orphanet:1143" . _:8f79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536614"; "DOID:0090124", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1143/e", "Orphanet:1143" . _:8f7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:208100"; "DOID:0090124", "MONDO:equivalentTo", "ORDO:1143/e", "Orphanet:1143" . _:8f7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617468"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8f81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715316005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:8f82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1859721"; "DOID:0090124", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:208100", "ORDO:1143/e", "Orphanet:1143" . _:8f83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMC neurogenic type"; "DOID:0090124" . _:8f85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMCN"; "DOID:0090124", "MONDO:Lexical", "OMIM:208100" . _:8f88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis multiplex congenita neurogenic type"; "DOID:0090124" . _:8f8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurogenic arthrogryposis multiplex congenita"; rdfs:comment "preferred label from MONDO" . _:8f8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMC, neurogenic type"; "OMIM:208100" . _:8f8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis multiplex congenita, neurogenic type"; "MONDO:Lexical", "OMIM:208100" . _:8f8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis multiplex congenita, neurogenic type; AMCN"; "OMIM:208100" . _:8f90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurogenic type of AMC"; "GARD:0000790" . _:8f91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1143" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations."; ; , , , , , , , ; "BWS"@en, "Exomphalos-macroglossia-gigantism syndrome"@en, "Wiedemann-Beckwith syndrome"@en; "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations."@en; "orphanet", "orphanet"@en; "DOID:5572", "GARD:0003343", "ICD-10:Q87.3", "ICD10:Q87.3", "ICD9:759.89", "MESH:D001506", "MONDO:0007534", "MSH:D001506", "MeSH:D001506", "MedDRA:10050344", "NCIT:C34415", "OMIM:130650", "SCTID:81780002", "UMLS:C0004903"; "BWS", "Beckwith-Wiedemann syndrome", "Exomphalos - macroglossia - gigantism", "Wiedemann-Beckwith syndrome", "exomphalos-macroglossia-gigantism syndrome"; "BWS", "Beckwith-Wiedemann syndrome chromosome region", "Beckwith-Wiedemann syndrome; BWS", "EMG syndrome", "Wiedemann-Beckwith syndrome (WBS)", "exomphalos macroglossia gigantism syndrome"; "Orphanet:116"; , ; rdfs:label "Beckwith-Wiedemann syndrome", "Beckwith-Wiedemann syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome"^^xsd:anyURI; "ORPHA:116" . _:8fa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations."; "Orphanet:116" . _:8fa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5572"; "MONDO:equivalentTo" . _:8fa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003343"; "MONDO:equivalentTo" . _:8fa8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11428; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11428 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:8faad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:8fabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "DOID:5572", "ORDO:116/inclusion", "ORDO:116/ntbt", "Orphanet:116" . _:8facd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:8faed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001506"; "DOID:5572", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:116/e", "Orphanet:116" . _:8fb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001506"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8fb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050344"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8fb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050344"; "ORDO:116/e", "Orphanet:116" . _:8fb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34415"; "DOID:5572", "MONDO:equivalentTo", "exact-label-match" . _:8fbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:130650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8fbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:130650"; "DOID:5572", "MONDO:equivalentTo", "ORDO:116/e", "Orphanet:116" . _:8fc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:81780002"; "DOID:5572", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/27.85" . _:8fc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004903"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8fc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004903"; "DOID:5572", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C34415", "OMIM:130650", "ORDO:116/e", "Orphanet:116" . _:8fc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BWS"; "Orphanet:116" . _:8fcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome"; "MONDO:Lexical", "NCIT:C34415", "OMIM:130650" . _:8fccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome"; rdfs:comment "preferred label from MONDO" . _:8fcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiedemann-Beckwith syndrome"; "OMIM:130650", "Orphanet:116" . _:8fcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exomphalos-macroglossia-gigantism syndrome"; "OMIM:130650", "Orphanet:116" . _:8fd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BWS"; "MONDO:Lexical", "OMIM:130650" . _:8fd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome chromosome region"; "OMIM:130650" . _:8fdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome; BWS"; "OMIM:130650" . _:8fdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMG syndrome"; "OMIM:130650" . _:8fddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiedemann-Beckwith syndrome (WBS)"; "GARD:0003343" . _:8fded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exomphalos macroglossia gigantism syndrome"; "GARD:0003343" . _:8fdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003343" . _:8fe0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:116" . _:8fe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome"^^xsd:anyURI; "GARD:0003343" . a owl:Class; rdfs:subClassOf ; "ABPA"@en, "Allergic aspergillosis"@en, "Hinson-Pepys disease"@en; "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates."@en; "orphanet"@en; "ICD-10:B44.1+", "ICD-10:J99.8*", "MeSH:D001229", "MedDRA:10006474", "OMIM:103920", "UMLS:C0004031"; rdfs:label "Allergic bronchopulmonary aspergillosis"@en; "ORPHA:1164" . _:8fe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B44.1+"; "NTBT (narrower term maps to a broader term)"@en . _:8fe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J99.8*"; "NTBT (narrower term maps to a broader term)"@en . _:8fe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001229"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8fe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10006474"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8febd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:103920"; "BTNT (broader term maps to a narrower term)"@en . _:8fedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004031"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations."@en; "orphanet"@en; "ICD-10:M35.2", "MeSH:D001528", "MedDRA:10004213", "OMIM:109650", "UMLS:C0004943"; rdfs:label "Behçet disease"@en; "ORPHA:117" . _:8feed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M35.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8fefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001528"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8ff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10004213"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8ff2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:109650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:8ff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004943"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , ; "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."; , , ; "ARCA"@en; "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."@en; "orphanet"@en; "DOID:0050950", "ICD10:G11", "MONDO:0015244", "OMIM:615768", "OMIM:616127", "OMIM:616719", "UMLS:CN226644"; "ARCA", "arca", "autosomal recessive cerebellar ataxia", "cerebellar ataxia, autosomal recessive"; "Orphanet:1172"; ; rdfs:label "Autosomal recessive cerebellar ataxia", "Autosomal recessive cerebellar ataxia"@en; "ORPHA:1172" . _:8ff7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."; "Orphanet:1172" . _:8ff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050950"; "MONDO:equivalentTo" . _:8ff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615768"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8ffad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616127"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8ffbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616719"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:8ffcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226644"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:9013d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arca"; "Orphanet:1172" . _:9014d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive cerebellar ataxia"; rdfs:comment "preferred label from MONDO" . _:9015d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar ataxia, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:9016d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1172" . a owl:Class; rdfs:subClassOf ; "UMLS:C0021831"; rdfs:label "Rare intestinal disease"@en; "ORPHA:117569" . _:9018d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021831"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "A anorectal malformation that is part of a larger syndrome."; , ; "MONDO:0015246", "UMLS:CN226645"; "syndrome associated with anorectal malformation", "syndromic anorectal malformation"; "syndrome associated with anorectal malformation"; "Orphanet:117573"; ; rdfs:label "Syndromic anorectal malformation" . _:901cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A anorectal malformation that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:901ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226645"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:9020d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with anorectal malformation"; "MONDO:patterns/syndromic" . _:9021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic anorectal malformation"; "MONDO:patterns/syndromic" . _:9023d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic anorectal malformation"; rdfs:comment "preferred label from MONDO" . _:9026d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with anorectal malformation"; "MONDO:patterns/syndromic" . _:9029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:117573" . a owl:Class; rdfs:subClassOf , , , ; "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families."; , , , , , , ; "IOSCA"@en, "Ohaha syndrome"@en, "Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"@en; "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families."@en; "orphanet", "orphanet"@en; "DOID:0050556", "DOID:0080126", "GARD:0004062", "ICD-10:G11.1", "ICD10:G11.1", "MESH:C535523", "MONDO:0010060", "MSH:C535523", "MeSH:C535523", "OMIM:271245", "SCTID:724227000", "UMLS:C1849096"; "IOSCA", "OHAHA syndrome", "Ohaha syndrome", "Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis", "TWNK autosomal recessive degenerative and progressive cerebellar ataxia", "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK", "infantile onset spinocerebellar ataxia", "mitochondrial DNA depletion syndrome type 7", "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"; "MTDPS7", "SCA8 (formerly)", "mitochondrial DNA depletion syndrome 7", "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)", "mitochondrial DNA depletion syndrome 7 (hepatocerebral type); MTDPS7", "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis", "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis", "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis", "spinocerebellar ataxia 8", "spinocerebellar ataxia 8 (formerly)", "spinocerebellar ataxia 8, formerly", "spinocerebellar ataxia infantile with sensory neuropathy", "spinocerebellar ataxia, infantile, with sensory neuropathy", "spinocerebellar ataxia, infantile-onset"; "Orphanet:1186"; ; rdfs:comment "Editor notes: DO terms may need to be merged. See: https://github.com/monarch-initiative/mondo-build/issues/5"; rdfs:label "Infantile onset spinocerebellar ataxia", "Infantile onset spinocerebellar ataxia"@en; "ORPHA:1186" . _:9030d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families."; "Orphanet:1186" . _:9031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050556"; "MONDO:equivalentTo" . _:9032d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080126"; "MONDO:equivalentTo" . _:9033d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004062"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:9034d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11490; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11490 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.1"; "Attributed"@en . _:9035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.1"; "NTBT (narrower term maps to a broader term)"@en . _:9037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11.1"; "ORDO:1186/attributed", "ORDO:1186/ntbt", "Orphanet:1186" . _:9039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535523"; "MONDO:equivalentTo", "ORDO:1186/e", "Orphanet:1186" . _:903cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535523"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:903ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:271245"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:903fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:271245"; "DOID:0050556", "MONDO:equivalentTo", "ORDO:1186/e", "Orphanet:1186" . _:9040d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:724227000"; "MONDO:equivalentTo" . _:9041d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849096"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9042d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849096"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:271245", "ORDO:1186/e", "Orphanet:1186" . _:9046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IOSCA"; "Orphanet:1186" . _:9049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OHAHA syndrome"; "DOID:0050556" . _:904bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ohaha syndrome"; "OMIM:271245", "Orphanet:1186" . _:904cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TWNK autosomal recessive degenerative and progressive cerebellar ataxia"; "MONDO:patterns/disease_series_by_gene" . _:904dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile onset spinocerebellar ataxia"; rdfs:comment "preferred label from MONDO" . _:904fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial DNA depletion syndrome type 7"; "DOID:0080126", "MONDORULE:1" . _:9050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"; "Orphanet:1186" . _:9053d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTDPS7"; "MONDO:Lexical", "OMIM:271245" . _:9054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCA8 (formerly)"; "GARD:0004062" . _:9055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial DNA depletion syndrome 7"; "DOID:0080126" . _:9058d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"; "MONDO:Lexical", "OMIM:271245" . _:905bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial DNA depletion syndrome 7 (hepatocerebral type); MTDPS7"; "OMIM:271245" . _:905cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis"; "GARD:0004062" . _:905dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis"; "GARD:0004062" . _:905fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis"; "OMIM:271245" . _:9065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia 8"; "OMIM:271245" . _:9066d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia 8 (formerly)"; "GARD:0004062" . _:9068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia 8, formerly"; "OMIM:271245" . _:906ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia infantile with sensory neuropathy"; "GARD:0004062" . _:906bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia, infantile, with sensory neuropathy"; "OMIM:271245" . _:906cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia, infantile-onset"; "OMIM:271245" . _:906ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1186" . a owl:Class; rdfs:subClassOf , , , ; "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed."; , ; , , , ; "Feigenbaum-Bergeron-Richardson syndrome"@en; "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed."@en; "orphanet"@en; "GARD:0002279", "ICD-10:Q87.8", "MESH:C565928", "MONDO:0008843", "OMIM:209010", "SCTID:720519003", "UMLS:C2931125"; "Feigenbaum-Bergeron-Richardson syndrome", "atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"; "Feigenbaum Bergeron Richardson syndrome", "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease", "premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder"; "Orphanet:1192"; ; rdfs:label "Atherosclerosis - deafness - diabetes - epilepsy - nephropathy", "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"@en; "ORPHA:1192" . _:9070d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed."; "Orphanet:1192" . _:9072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002279"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:9074d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11525; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11525 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:9078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:907ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C565928"; "MONDO:equivalentTo" . _:907cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209010"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:907ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209010"; "MONDO:equivalentTo", "ORDO:1192/e", "Orphanet:1192" . _:907fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:720519003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.67" . _:9080d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931125"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Feigenbaum-Bergeron-Richardson syndrome"; "Orphanet:1192" . _:9085d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"; rdfs:comment "preferred label from MONDO" . _:9086d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Feigenbaum Bergeron Richardson syndrome"; "GARD:0002279" . _:9088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease"; "OMIM:209010" . _:908ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder"; "GARD:0002279" . _:908bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1192" . a owl:Class; rdfs:subClassOf , ; "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns."; , , , , , ; "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns."@en; "orphanet", "orphanet"@en; "GARD:0001446", "HP:0010448", "ICD-10:Q42.9", "ICD10:Q42.9", "MESH:C562562", "MONDO:0010562", "NCIT:C101024", "OMIM:303650", "SCTID:37054000", "UMLS:C0266190"; "atresia of colon", "colon atresia", "colonic atresia", "colonic atresia (disease)", "congenital atresia of colon"; "Orphanet:1198"; ; rdfs:label "Colonic atresia", "Colonic atresia"@en; "ORPHA:1198" . _:9090d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns."; "Orphanet:1198" . _:9091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001446"; "MONDO:equivalentTo", "shared-umls-xref" . _:9092d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0010448"; "MONDO:otherHierarchy", "ontobio" . _:9095d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11542; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.9"; "Attributed"@en . _:9098d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.9"; "NTBT (narrower term maps to a broader term)"@en . _:9099d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q42.9"; "ORDO:1198/attributed", "ORDO:1198/ntbt", "Orphanet:1198" . _:909bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562562"; "MONDO:equivalentTo", "MONDO:ontobio" . _:909dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C101024"; "MONDO:equivalentTo" . _:90a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:303650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:303650"; "MONDO:equivalentTo", "ORDO:1198/e", "Orphanet:1198" . _:90a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:37054000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.37" . _:90a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266190"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of colon"; "NCIT:C101024" . _:90a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colon atresia"; "NCIT:C101024" . _:90abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colonic atresia"; "MONDO:ambiguous", "OMIM:303650" . _:90aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colonic atresia (disease)"; rdfs:comment "preferred label from MONDO" . _:90afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital atresia of colon"; "NCIT:C101024" . _:90b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1198" . a owl:Class; rdfs:subClassOf ; "Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea."@en; "orphanet"@en; "ICD-10:Q39.0", "ICD-10:Q39.1", "MeSH:D004933", "MedDRA:10021530", "MedDRA:10030146", "OMIM:189960", "UMLS:C0014850"; rdfs:label "Esophageal atresia"@en; "ORPHA:1199" . _:90b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q39.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q39.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D004933"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021530"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10030146"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:189960"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014850"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases."; , , , , , , ; "Apple peel syndrome"@en, "Intestinal atresia type IIIb"@en, "Jejunal atresia"@en, "Jejunoileal atresia"@en, "Small intestinal atresia"@en; "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases."@en; "orphanet", "orphanet"@en; "GARD:0000140", "GARD:0006799", "ICD-10:Q41.0", "ICD-10:Q41.1", "ICD-10:Q41.2", "ICD-10:Q41.8", "ICD-10:Q41.9", "ICD10:Q41.0", "ICD10:Q41.1", "ICD10:Q41.2", "ICD10:Q41.8", "ICD10:Q41.9", "MESH:C538260", "MONDO:0009476", "MSH:C538260", "MeSH:C538260", "MedDRA:10010626", "NCIT:C98828", "OMIM:243600", "UMLS:C0021828", "UMLS:C0266172", "UMLS:C0266175"; "Apple peel syndrome", "Christmas tree syndrome", "Intestinal atresia type IIIb", "Jejunal atresia", "Jejunoileal atresia", "Small intestinal atresia", "apple peel syndrome", "atresia of small intestine", "atresia of the small intestine", "congenital small intestine atresia", "intestinal atresia type IIIb", "jejunal atresia", "small intestinal atresia", "small intestine atresia"; "APSB", "apple peel small bowel syndrome", "apple-peel intestinal atresia", "congenital atresia of the small intestine", "familial apple peel jejunal atresia"; "Orphanet:1201"; , ; rdfs:label "Atresia of small intestine", "Atresia of small intestine"@en; "ORPHA:1201" . _:90c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases."; "Orphanet:1201" . _:90cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000140"; "MONDO:equivalentTo" . _:90cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006799"; "MONDO:equivalentTo", "OMIM-shared" . _:90ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.0"; "BTNT (broader term maps to a narrower term)"@en . _:90cdd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11569; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11569 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.0"; "Specific code (The term has its own code in the ICD10)"@en . _:90ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.1"; "BTNT (broader term maps to a narrower term)"@en . _:90d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.1"; "Specific code (The term has its own code in the ICD10)"@en . _:90d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.2"; "BTNT (broader term maps to a narrower term)"@en . _:90d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.2"; "Specific code (The term has its own code in the ICD10)"@en . _:90d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.8"; "BTNT (broader term maps to a narrower term)"@en . _:90d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.8"; "Specific code (The term has its own code in the ICD10)"@en . _:90d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.9"; "BTNT (broader term maps to a narrower term)"@en . _:90d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.9"; "Specific code (The term has its own code in the ICD10)"@en . _:90dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q41.0"; "ORDO:1201/btnt", "ORDO:1201/specific", "Orphanet:1201" . _:90dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q41.1"; "ORDO:1201/btnt", "ORDO:1201/specific", "Orphanet:1201" . _:90ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q41.2"; "ORDO:1201/btnt", "ORDO:1201/specific", "Orphanet:1201" . _:90e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q41.8"; "ORDO:1201/btnt", "ORDO:1201/specific", "Orphanet:1201" . _:90e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q41.9"; "ORDO:1201/btnt", "ORDO:1201/specific", "Orphanet:1201" . _:90e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538260"; "MONDO:equivalentTo", "ORDO:1201/e", "Orphanet:1201" . _:90e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538260"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010626"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010626"; "ORDO:1201/e", "Orphanet:1201" . _:90eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98828"; "MONDO:equivalentTo" . _:90f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:243600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:243600"; "MONDO:equivalentTo", "ORDO:1201/e", "Orphanet:1201" . _:90f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021828"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266172"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266172"; "GARD:0000140", "MONDO:equivalentTo", "NCIT:C98828", "ORDO:1201/e", "Orphanet:1201" . _:90f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266175"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:90fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jejunoileal atresia"; "GARD:0000140", "Orphanet:1201" . _:90fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apple peel syndrome"; "Orphanet:1201" . _:90fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of small intestine"; rdfs:comment "preferred label from MONDO" . _:90fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of the small intestine"; "NCIT:C98828" . _:90fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital small intestine atresia"; "NCIT:C98828" . _:9100d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal atresia type IIIb"; "Orphanet:1201" . _:9102d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "jejunal atresia"; "Orphanet:1201" . _:9114d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small intestinal atresia"; "Orphanet:1201" . _:9117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "small intestine atresia"; "GARD:0000140", "NCIT:C98828" . _:9118d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APSB"; "GARD:0006799" . _:911ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apple peel small bowel syndrome"; "OMIM:243600" . _:911dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apple-peel intestinal atresia"; "GARD:0006799" . _:911ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital atresia of the small intestine"; "GARD:0000140" . _:9120d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial apple peel jejunal atresia"; "GARD:0006799" . _:9121d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1201" . a owl:Class; rdfs:subClassOf , , ; "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation."; ; , , , , , ; "GARD:0003192", "GARD:0003194", "ICD-10:Q31.8", "ICD10:Q31.8", "ICD9:748.3", "MESH:C563637", "MONDO:0007879", "NCIT:C98972", "OMIM:150300", "SCTID:64981002", "UMLS:C0265756", "UMLS:C1835555"; "congenital atresia of larynx", "congenital atresia of the larynx", "laryngeal atresia", "larynx atresia"; "congenital partial atresia of the larynx", "larynx, congenital partial atresia OF"; "Orphanet:1202"; ; rdfs:label "Larynx atresia", "Larynx atresia"@en; "ORPHA:1202" . _:912cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation."; "NCIT:C98972" . _:9143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003192"; "MONDO:equivalentTo", "shared-xref" . _:9144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003194"; "MONDO:equivalentTo", "Orphanet-shared" . _:9146d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11613; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11613 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q31.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:914ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q31.8"; "NTBT (narrower term maps to a broader term)"@en . _:914bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q31.8"; "ORDO:1202/inclusion", "ORDO:1202/ntbt", "Orphanet:1202" . _:914dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:748.3"; "MONDO:relatedTo", "i2s" . _:9150d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563637"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98972"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:9155d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:150300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:150300"; "MONDO:equivalentTo", "ORDO:1202/e", "Orphanet:1202" . _:9159d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:64981002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.65" . _:915cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265756"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:915dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265756"; "MONDO:equivalentTo", "NCIT:C98972", "ORDO:1202/e", "Orphanet:1202" . _:915ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1835555"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:915fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital atresia of larynx"; "NCIT:C98972" . _:9160d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital atresia of the larynx"; "NCIT:C98972" . _:9161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "laryngeal atresia"; "NCIT:C98972" . _:9162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "larynx atresia"; rdfs:comment "preferred label from MONDO" . _:9163d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital partial atresia of the larynx"; "GARD:0003192" . _:9165d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "larynx, congenital partial atresia OF"; "OMIM:150300" . _:9167d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1202" . a owl:Class; rdfs:subClassOf , , , ; "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen."; , , , , , , , ; "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen."@en; "orphanet", "orphanet"@en; "DOID:0080216", "GARD:0000054", "HP:0002247", "ICD-10:Q41.0", "ICD10:Q41.0", "ICD9:751.1", "MESH:C535720", "MONDO:0009126", "MSH:C535720", "MeSH:C535720", "MedDRA:10013812", "NCIT:C101025", "OMIM:223400", "SCTID:51118003", "UMLS:C0266174"; "atresia of duodenum", "congenital atresia of duodenum", "congenital duodenal atresia", "duodenal atresia", "duodenal atresia (disease)"; "duodenal stenosis"; "Orphanet:1203"; , ; rdfs:label "Duodenal atresia", "Duodenal atresia"@en; "ORPHA:1203" . _:916fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen."; "Orphanet:1203" . _:9170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080216"; "MONDO:equivalentTo" . _:9172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000054"; "MONDO:equivalentTo" . _:9174d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002247"; "MONDO:otherHierarchy", "ontobio" . _:9176d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11637; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11637 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:9177d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q41.0"; "NTBT (narrower term maps to a broader term)"@en . _:9178d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q41.0"; "ORDO:1203/inclusion", "ORDO:1203/ntbt", "Orphanet:1203" . _:917ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:751.1"; "MONDO:relatedTo", "i2s" . _:917cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535720"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1203/e", "Orphanet:1203" . _:917dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535720"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:917ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10013812"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9180d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10013812"; "ORDO:1203/e", "Orphanet:1203" . _:9181d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C101025"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:9182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:223400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9184d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:223400"; "DOID:0080216", "GARD:0000054", "MONDO:equivalentTo", "ORDO:1203/e", "Orphanet:1203" . _:9185d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:51118003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.19" . _:9187d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266174"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9189d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266174"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C101025", "OMIM:223400", "ORDO:1203/e", "Orphanet:1203" . _:918cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of duodenum"; "NCIT:C101025" . _:918ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital atresia of duodenum"; "NCIT:C101025" . _:9190d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital duodenal atresia"; "NCIT:C101025" . _:9192d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "duodenal atresia"; "MONDO:ambiguous", "OMIM:223400" . _:9195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "duodenal atresia (disease)"; rdfs:comment "preferred label from MONDO" . _:9196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "duodenal stenosis"; "GARD:0000054" . _:9197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1203" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia."; , , , , ; , , , , , , , ; "Aase syndrome"@en, "Aase-Smith II syndrome"@en, "Congenital PRCA"@en, "Congenital hypoplastic anemia, Blackfan-Diamond type"@en, "Congenital pure red cell aplasia"@en; "Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia."@en; "orphanet"@en; "DOID:1339", "GARD:0006274", "ICD-10:D61.0", "ICD10:D61.0", "ICD10:D61.01", "MESH:D029503", "MONDO:0015253", "MSH:D029503", "MeSH:D029503", "MedDRA:10062989", "NCIT:C61236", "OMIM:105650", "OMIM:300946", "OMIM:606129", "OMIM:606164", "OMIM:610629", "OMIM:612527", "OMIM:612528", "OMIM:612561", "OMIM:612562", "OMIM:612563", "OMIM:613308", "OMIM:613309", "OMIM:614900", "OMIM:615550", "OMIM:615909", "OMIM:617408", "OMIM:617409", "OMIM:617911", "OMIM:618310", "OMIM:618312", "OMIM:618313", "OMIMPS:105650", "SCTID:88854002", "UMLS:C0265265", "UMLS:C1260899", "UMLS:C2931850"; "Aase syndrome", "Aase-Smith II syndrome", "Blackfan - Diamond syndrome", "Blackfan-Diamond anemia", "Congenital PRCA", "Congenital hypoplastic anemia, Blackfan-Diamond type", "Congenital pure red cell aplasia", "DBA", "Diamond-Blackfan anemia", "chronic constitutional pure red cell anaemia", "congenital PRCA", "congenital hypoplastic anemia", "congenital hypoplastic anemia, Blackfan-Diamond type", "congenital pure red cell aplasia", "erythrogenesis imperfecta", "inherited erythroblastopenia"; "BDS", "Blackfan Diamond syndrome", "Red cell aplasia, pure hereditary", "anemia Diamond Blackfan type", "anemia congenital erythroid hypoplastic", "aregenerative anemia chronic congenital"; "Orphanet:124"; , ; rdfs:label "Blackfan-Diamond anemia", "Blackfan-Diamond anemia"@en; "ORPHA:124" . _:91a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia."; "Orphanet:124" . _:91a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1339"; "MONDO:equivalentTo" . _:91a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006274"; "MONDO:equivalentTo", "Orphanet-shared" . _:91a7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11662; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D61.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:91a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D61.0"; "NTBT (narrower term maps to a broader term)"@en . _:91aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D61.0"; "MONDO:subClassOf", "ORDO:124/inclusion", "ORDO:124/ntbt", "Orphanet:124" . _:91afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D61.01"; "DOID:1339" . _:91b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D029503"; "DOID:1339", "MONDO:equivalentTo", "ORDO:124/e", "Orphanet:124" . _:91b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D029503"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:91b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062989"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:91b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062989"; "ORDO:124/e", "Orphanet:124" . _:91b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61236"; "DOID:1339", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.69/1.45" . _:91b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:105650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:91bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300946"; "BTNT (broader term maps to a narrower term)"@en . _:91bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300946"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:91bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606129"; "BTNT (broader term maps to a narrower term)"@en . _:91bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606164"; "BTNT (broader term maps to a narrower term)"@en . _:91c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606164"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:91c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610629"; "BTNT (broader term maps to a narrower term)"@en . _:91c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612527"; "BTNT (broader term maps to a narrower term)"@en . _:91c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612528"; "BTNT (broader term maps to a narrower term)"@en . _:91cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612561"; "BTNT (broader term maps to a narrower term)"@en . _:91ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612562"; "BTNT (broader term maps to a narrower term)"@en . _:91ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612563"; "BTNT (broader term maps to a narrower term)"@en . _:91cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613308"; "BTNT (broader term maps to a narrower term)"@en . _:91d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613309"; "BTNT (broader term maps to a narrower term)"@en . _:91d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614900"; "BTNT (broader term maps to a narrower term)"@en . _:91d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615550"; "BTNT (broader term maps to a narrower term)"@en . _:91d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615909"; "BTNT (broader term maps to a narrower term)"@en . _:91d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615909"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:91d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617408"; "BTNT (broader term maps to a narrower term)"@en . _:91d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617408"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:91dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617409"; "BTNT (broader term maps to a narrower term)"@en . _:91e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617409"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:91e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618310"; "BTNT (broader term maps to a narrower term)"@en . _:91e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618312"; "BTNT (broader term maps to a narrower term)"@en . _:91e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618313"; "BTNT (broader term maps to a narrower term)"@en . _:91e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:105650"; "MONDO:cjm", "MONDO:equivalentTo" . _:91e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:88854002"; "DOID:1339", "MONDO:equivalentTo" . _:91e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265265"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:91ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1260899"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:91edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1260899"; "DOID:1339", "MONDO:equivalentTo", "NCIT:C61236", "ORDO:124/e", "Orphanet:124" . _:91efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931850"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:91f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aase syndrome"; "Orphanet:124" . _:91f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aase-Smith II syndrome"; "Orphanet:124" . _:91f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blackfan - Diamond syndrome"; "DOID:1339" . _:91f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blackfan-Diamond anemia"; "NCIT:C61236" . _:91fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diamond-Blackfan anemia"; rdfs:comment "preferred label from MONDO" . _:91fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic constitutional pure red cell anaemia"; "DOID:1339" . _:91fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital PRCA"; "Orphanet:124" . _:91fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hypoplastic anemia"; "NCIT:C61236" . _:9200d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hypoplastic anemia, Blackfan-Diamond type"; "Orphanet:124" . _:9203d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital pure red cell aplasia"; "Orphanet:124" . _:9206d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erythrogenesis imperfecta"; "NCIT:C61236" . _:9208d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited erythroblastopenia"; "NCIT:C61236" . _:9209d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BDS"; "GARD:0006274" . _:920ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blackfan Diamond syndrome"; "GARD:0006274" . _:920bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Red cell aplasia, pure hereditary"; "GARD:0006274" . _:920cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia Diamond Blackfan type"; "GARD:0006274" . _:920dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia congenital erythroid hypoplastic"; "GARD:0006274" . _:920ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aregenerative anemia chronic congenital"; "GARD:0006274" . _:920fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:124" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , ; "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer."; , , , , , , ; "BSyn"@en; "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer."@en; "orphanet", "orphanet"@en; "DOID:2717", "GARD:0000915", "ICD-10:Q82.2", "ICD10:Q82.2", "ICD10:Q87.1", "ICD9:757.39", "MESH:D001816", "MONDO:0008876", "MSH:D001816", "MeSH:D001816", "NCIT:C2903", "OMIM:210900", "SCTID:4434006", "UMLS:C0005859"; "BSyn", "Bloom syndrome", "Bloom-Torre-Machacek syndrome", "congenital telangiectatic erythema syndrome"; "BLM", "BLS", "BS", "Bloom syndrome; BLM", "MGRISCE1", "congenital telangiectatic erythema", "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "microcephaly, growth restriction, and increased sister chromatid exchange 1"; "Orphanet:125"; , ; rdfs:label "Bloom syndrome", "Bloom syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome"^^xsd:anyURI; "ORPHA:125" . _:9216d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer."; "Orphanet:125" . _:9218d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2717"; "MONDO:equivalentTo" . _:921ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000915"; "MONDO:equivalentTo" . _:921cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11725; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11725 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.2"; "Index term"@en . _:921ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.2"; "NTBT (narrower term maps to a broader term)"@en . _:921fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.2"; "MONDO:directSiblingOf", "ORDO:125/index", "ORDO:125/ntbt", "Orphanet:125" . _:9220d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:9221d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001816"; "DOID:2717", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:125/e", "Orphanet:125" . _:9222d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001816"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2903"; "DOID:2717", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.75/0.88" . _:9224d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:210900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9226d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:210900"; "DOID:2717", "MONDO:equivalentTo", "ORDO:125/e", "Orphanet:125" . _:9227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:4434006"; "DOID:2717", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.32" . _:9229d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005859"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:922ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005859"; "DOID:2717", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C2903", "OMIM:210900", "ORDO:125/e", "Orphanet:125" . _:922dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BSyn"; "Orphanet:125" . _:922ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bloom syndrome"; "MONDO:Lexical", "OMIM:210900" . _:9230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bloom syndrome"; rdfs:comment "preferred label from MONDO" . _:9232d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bloom-Torre-Machacek syndrome"; "CSP2005:1254-7913", "DOID:2717" . _:9233d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital telangiectatic erythema syndrome"; "DOID:2717", "NCIT:C2903" . _:9234d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLM"; "MONDO:Lexical", "OMIM:210900" . _:9235d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLS"; "GARD:0000915" . _:9236d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BS"; "OMIM:210900" . _:9238d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bloom syndrome; BLM"; "OMIM:210900" . _:9239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGRISCE1"; "MONDO:cjm" . _:923cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital telangiectatic erythema"; "GARD:0000915" . _:923dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability"; "GARD:0000915" . _:923fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly, growth restriction, and increased sister chromatid exchange 1"; "OMIM:210900" . _:9240d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000915" . _:9242d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:125" . _:9243d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome"^^xsd:anyURI; "GARD:0000915" . a owl:Class; rdfs:subClassOf , ; "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits."; ; , , , , , , ; "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"@en; "6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases."@en; "orphanet"@en; "DOID:0090106", "GARD:0005682", "GARD:5682", "ICD-10:E70.1", "ICD10:E70.1", "MESH:C535325", "MONDO:0009863", "MSH:C535325", "MeSH:C535325", "NCIT:C138171", "OMIM:261640", "SCTID:237914002", "UMLS:C0878676"; "6-pyruvoyl tetrahydropterin synthase deficiency", "6-pyruvoyl-tetrahydropterin synthase deficiency", "BH4-deficient hyperphenylalaninemia A", "Bh4-deficient hyperphenylalaninemia type A", "HPABH4A", "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency", "PTS deficiency", "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency", "hyperphenylalaninemia, BH4-deficient A", "hyperphenylalaninemia, Bh4-deficient, type a", "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency"; "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included", "hyperphenylalanemia, BH4-deficient, A", "hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency", "hyperphenylalaninemia, BH4-deficient, A", "hyperphenylalaninemia, BH4-deficient, A; HPABH4A", "hyperphenylalaninemia, BH4-deficient, type A", "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency", "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency"; "Orphanet:13"; ; rdfs:label "6-pyruvoyl-tetrahydropterin synthase deficiency", "6-pyruvoyl-tetrahydropterin synthase deficiency"@en; "ORPHA:13" . _:9272d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits."; "NCIT:C138171" . _:9273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090106"; "MONDO:equivalentTo" . _:9274d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005682"; "MONDO:equivalentTo", "Orphanet-shared" . _:9276d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:5682"; "DOID:0090106" . _:9277d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11758; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11758 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "Attributed"@en . _:9279d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "NTBT (narrower term maps to a broader term)"@en . _:927bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.1"; "DOID:0090106", "ORDO:13/attributed", "ORDO:13/ntbt", "Orphanet:13" . _:927ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535325"; "DOID:0090106", "MONDO:equivalentTo", "ORDO:13/e", "Orphanet:13" . _:9280d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535325"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9284d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C138171"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:9285d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261640"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9286d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261640"; "DOID:0090106", "MEDIC:C535325", "MONDO:equivalentTo", "ORDO:13/e", "Orphanet:13" . _:9287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237914002"; "MONDO:equivalentTo" . _:9288d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0878676"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:928ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0878676"; "DOID:0090106", "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:261640", "ORDO:13/e", "Orphanet:13" . _:928dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "6-pyruvoyl tetrahydropterin synthase deficiency"; "NCIT:C138171" . _:928fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "6-pyruvoyl-tetrahydropterin synthase deficiency"; "DOID:0090106" . _:9290d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BH4-deficient hyperphenylalaninemia A"; rdfs:comment "preferred label from MONDO" . _:9291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bh4-deficient hyperphenylalaninemia type A"; "DOID:0090106", "MONDORULE:1" . _:9293d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPABH4A"; "DOID:0090106", "MONDO:Lexical", "OMIM:261640" . _:9295d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PTS deficiency"; "DOID:0090106", "MESH:C535325", "OMIM:261640" . _:9299d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"; "DOID:0090106", "Orphanet:13" . _:929ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient A"; "NCIT:C138171" . _:929bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, Bh4-deficient, type a"; "MONDORULE:1", "OMIM:261640" . _:929cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency"; "DOID:0090106" . _:929ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included"; "MESH:C535325" . _:92a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalanemia, BH4-deficient, A"; "GARD:0005682" . _:92a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency"; "GARD:0005682" . _:92a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, A"; "MESH:C535325", "MONDO:Lexical", "OMIM:261640" . _:92a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, A; HPABH4A"; "OMIM:261640" . _:92a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, type A"; "MESH:C535325" . _:92aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency"; "OMIM:261640" . _:92abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency"; "MESH:C535325", "OMIM:261640" . _:92acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:13" . a owl:Class; rdfs:subClassOf ; "Constrictive bronchiolitis"@en, "Obliterative bronchiolitis"@en; "Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction."@en; "orphanet"@en; "ICD-10:J44.8", "UMLS:C0006272", "UMLS:C2350875"; rdfs:label "Bronchiolitis obliterans with obstructive pulmonary disease"@en; "ORPHA:1303" . _:92b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J44.8"; "NTBT (narrower term maps to a broader term)"@en . _:92b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006272"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2350875"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics."; , , , , , ; "Cacchi-Ricci disease"@en, "MSK"@en, "Precalicial canalicular ectasia"@en; "COHD:195072", "GARD:0000232", "ICD-10:Q61.5", "ICD10:Q61.5", "ICD9:753.17", "MESH:D007691", "MONDO:0015268", "MSH:D007691", "MeSH:D007691", "MedDRA:10027104", "NCIT:C34751", "SCTID:236443009", "UMLS:C0022681"; "Cacchi-Ricci disease", "MSK", "Precalicial canalicular ectasia", "medullary sponge kidney"; "Cacchi Ricci disease", "Cacchi-Ricci syndrome", "Precalyceal canalicular ectasia", "cystic dilatation of renal collecting tubes", "sponge kidney"; "Orphanet:1309"; , ; rdfs:label "Medullary sponge kidney", "Medullary sponge kidney"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney"^^xsd:anyURI; "ORPHA:1309" . _:92c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics."; "https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney" . _:92c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:195072"; "MONDO:equivalentTo" . _:92c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000232"; "MONDO:equivalentTo" . _:92cbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11795; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11795 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:92cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "NTBT (narrower term maps to a broader term)"@en . _:92d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.5"; "ORDO:1309/inclusion", "ORDO:1309/ntbt", "Orphanet:1309" . _:92d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:753.17"; "MONDO:equivalentTo", "i2s" . _:92d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007691"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1309/e", "Orphanet:1309" . _:92d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D007691"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027104"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027104"; "ORDO:1309/e", "Orphanet:1309" . _:92d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34751"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:92d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:236443009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.76/0.43" . _:92dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022681"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022681"; "MONDO:equivalentTo", "NCIT:C34751", "ORDO:1309/e", "Orphanet:1309" . _:92ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cacchi-Ricci disease"; "Orphanet:1309" . _:92ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSK"; "Orphanet:1309" . _:92dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Precalicial canalicular ectasia"; "Orphanet:1309" . _:92e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary sponge kidney"; rdfs:comment "preferred label from MONDO" . _:92e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cacchi Ricci disease"; "GARD:0000232" . _:92e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cacchi-Ricci syndrome"; "GARD:0000232" . _:92e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Precalyceal canalicular ectasia"; "GARD:0000232" . _:92e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystic dilatation of renal collecting tubes"; "GARD:0000232" . _:92e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sponge kidney"; "GARD:0000232" . _:92e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000232" . _:92e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1309" . _:92e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney"^^xsd:anyURI; "GARD:0000232" . a owl:Class; rdfs:subClassOf ; "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava."@en; "orphanet"@en; "ICD-10:I82.0", "MeSH:D006502", "MedDRA:10006537", "OMIM:600880", "UMLS:C0019154", "UMLS:C0856761"; rdfs:label "Budd-Chiari syndrome"@en; "ORPHA:131" . _:92ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I82.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006502"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10006537"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600880"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019154"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0856761"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "CAVC"@en, "Common atrioventricular canal"@en, "Complete atrioventricular septal defect"@en; "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow."@en; "orphanet"@en; "ICD-10:Q21.2", "UMLS:C0221215", "UMLS:C0344787"; rdfs:label "Complete atrioventricular canal"@en; "ORPHA:1329" . _:92f5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11826; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11826 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q21.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:92f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q21.2"; "NTBT (narrower term maps to a broader term)"@en . _:92fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221215"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:92fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0344787"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "PAVC"@en, "Partial atrioventricular canal defect"@en; "A congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea."@en; "orphanet"@en; "ICD-10:Q21.2", "MeSH:C536112", "UMLS:C0344735"; rdfs:label "Partial atrioventricular canal"@en; "ORPHA:1330" . _:9301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q21.2"; "NTBT (narrower term maps to a broader term)"@en . _:9304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536112"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9305d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0344735"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.", "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."; , , , , , , ; "Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."@en; "orphanet", "orphanet"@en; "GARD:0004520", "GTR:AN0101368", "GTR:AN0101369", "ICD-10:C61", "ICD10:C61", "MONDO:0023122", "MSH:C537243", "MeSH:C537243", "NCIT:C103817", "OMIM:176807", "OMIM:300147", "OMIM:300704", "OMIM:601518", "OMIM:602759", "OMIM:603688", "OMIM:608656", "OMIM:608658", "OMIM:609299", "OMIM:609558", "OMIM:610321", "OMIM:610997", "OMIM:611100", "OMIM:611868", "OMIM:611928", "OMIM:611955", "OMIM:611958", "OMIM:611959", "OMIM:614731", "SCTID:715412008", "UMLS:C2931456", "UMLS:CN036094"; "familial prostate cancer", "familial prostate carcinoma", "hereditary prostate cancer", "hereditary prostate carcinoma"; "hereditary prostate cancer", "prostate cancer, familial", "prostate cancer, hereditary"; "Orphanet:1331"; ; rdfs:comment "Editor note: check OMIM"; rdfs:label "Familial prostate cancer", "Familial prostate cancer"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer"^^xsd:anyURI; "ORPHA:1331" . _:930dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."; "NCIT:C103817" . _:930ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004520"; "MONDO:equivalentTo" . _:930fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0101368"; "UMLS:CN036094" . _:9311d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0101369"; "UMLS:CN036094" . _:9312d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11838; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11838 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C61"; "Attributed"@en . _:9314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C61"; "NTBT (narrower term maps to a broader term)"@en . _:9316d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537243"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C103817"; "MONDO:equivalentTo" . _:931bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176807"; "NTBT (narrower term maps to a broader term)"@en . _:931cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176807"; "DOID:10283", "MONDO:equivalentTo", "ORDO:1331/ntbt", "Orphanet:1331" . _:931ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300147"; "BTNT (broader term maps to a narrower term)"@en . _:9320d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300704"; "BTNT (broader term maps to a narrower term)"@en . _:9321d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601518"; "BTNT (broader term maps to a narrower term)"@en . _:9327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602759"; "BTNT (broader term maps to a narrower term)"@en . _:9329d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603688"; "BTNT (broader term maps to a narrower term)"@en . _:932bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608656"; "BTNT (broader term maps to a narrower term)"@en . _:932dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608658"; "BTNT (broader term maps to a narrower term)"@en . _:932fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609299"; "BTNT (broader term maps to a narrower term)"@en . _:9330d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609558"; "BTNT (broader term maps to a narrower term)"@en . _:9332d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610321"; "BTNT (broader term maps to a narrower term)"@en . _:9334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610997"; "BTNT (broader term maps to a narrower term)"@en . _:9336d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611100"; "BTNT (broader term maps to a narrower term)"@en . _:9338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611868"; "BTNT (broader term maps to a narrower term)"@en . _:933cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611928"; "BTNT (broader term maps to a narrower term)"@en . _:933ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611955"; "BTNT (broader term maps to a narrower term)"@en . _:9340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611958"; "BTNT (broader term maps to a narrower term)"@en . _:9342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611959"; "BTNT (broader term maps to a narrower term)"@en . _:9343d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614731"; "BTNT (broader term maps to a narrower term)"@en . _:9345d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715412008"; "MONDO:equivalentTo" . _:9346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931456"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9347d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931456"; "GARD:0004520", "MONDO:equivalentTo" . _:9348d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN036094"; "MONDO:equivalentTo" . _:9349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial prostate cancer"; "GTR:AN0101368" . _:934ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial prostate carcinoma"; rdfs:comment "preferred label from MONDO" . _:934bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary prostate cancer"; "MONDO:patterns/hereditary", "NCIT:C103817" . _:934dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary prostate carcinoma"; "NCIT:C103817" . _:934ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary prostate cancer"; "GTR:AN0101369" . _:934fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate cancer, familial"; "GARD:0004520" . _:9350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prostate cancer, hereditary"; "GARD:0004520" . _:9352d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer"^^xsd:anyURI; "GARD:0004520" . a owl:Class; rdfs:subClassOf ; "MTC"@en; "Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT)."@en; "orphanet"@en; "ICD-10:C73", "MeSH:C536914", "MedDRA:10027101", "UMLS:C0238462"; rdfs:label "Medullary thyroid carcinoma"@en; "ORPHA:1332" . _:9356d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C73"; "NTBT (narrower term maps to a broader term)"@en . _:9359d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536914"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:935bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027101"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:935cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238462"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives."; , , , , , ; "Familial pancreatic cancer"@en; "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives."@en; "orphanet"@en; "GARD:0004206", "ICD-10:C25", "ICD10:C25", "MESH:C535837", "MONDO:0015278", "MSH:C535837", "MeSH:C535837", "NCIT:C43298", "OMIM:260350", "OMIM:606856", "OMIM:613347", "OMIM:613348", "OMIM:614320", "SCTID:715414009", "UMLS:C2931038"; "Familial pancreatic cancer", "familial pancreatic cancer", "familial pancreatic carcinoma", "hereditary exocrine pancreatic carcinoma", "hereditary pancreatic cancer", "hereditary pancreatic carcinoma"; "pancreatic acinar carcinoma"; "Orphanet:1333"; , ; rdfs:label "Familial pancreatic carcinoma", "Familial pancreatic carcinoma"@en; "ORPHA:1333" . _:935fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives."; "Orphanet:1333" . _:9360d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004206"; "MONDO:equivalentTo", "Orphanet-shared" . _:9361d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11881; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11881 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C25"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:9363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C25"; "NTBT (narrower term maps to a broader term)"@en . _:9365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C25"; "ORDO:1333/inclusion", "ORDO:1333/ntbt", "Orphanet:1333" . _:9367d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535837"; "MONDO:equivalentTo", "ORDO:1333/e", "Orphanet:1333" . _:9369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535837"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9378d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C43298"; "MONDO:equivalentTo", "kboom:pr0.75-conf4.32" . _:937bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:260350"; "NTBT (narrower term maps to a broader term)"@en . _:937dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:260350"; "MONDO:equivalentTo", "ORDO:1333/ntbt", "Orphanet:1333" . _:9380d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606856"; "BTNT (broader term maps to a narrower term)"@en . _:9381d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613347"; "BTNT (broader term maps to a narrower term)"@en . _:9382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613348"; "BTNT (broader term maps to a narrower term)"@en . _:9383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614320"; "BTNT (broader term maps to a narrower term)"@en . _:93b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715414009"; "MONDO:equivalentTo" . _:93bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931038"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:93bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931038"; "MONDO:equivalentTo", "NCIT:C43298", "ORDO:1333/e", "Orphanet:1333" . _:93cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial pancreatic cancer"; "NCIT:C43298", "Orphanet:1333" . _:93cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial pancreatic carcinoma"; "NCIT:C43298" . _:93ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial pancreatic carcinoma"; rdfs:comment "preferred label from MONDO" . _:93d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary exocrine pancreatic carcinoma"; "MONDO:patterns/hereditary" . _:93d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary pancreatic cancer"; "NCIT:C43298" . _:93d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary pancreatic carcinoma"; "NCIT:C43298" . _:93d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic acinar carcinoma"; "OMIM:260350" . _:93d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1333" . a owl:Class; rdfs:subClassOf , , ; "."; , , , , , , ; "CMC"@en; "Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans."@en; "orphanet", "orphanet"@en; "DOID:2058", "HP:0002728", "ICD-10:B37.2", "ICD10:B37.2", "MESH:D002178", "MONDO:0015279", "MSH:D002178", "MeSH:D002178", "MedDRA:10009007", "NCIT:C34444", "OMIM:114580", "OMIM:212050", "OMIM:247650", "OMIM:252250", "OMIM:607644", "OMIM:613108", "OMIM:613953", "OMIM:613956", "OMIM:614162", "OMIM:615527", "OMIM:616445", "OMIMPS:114580", "SCTID:234568006", "UMLS:C0006845"; "CANDF", "CMC", "Chronic mucocutaneous candidiasis", "chronic mucocutaneous candidiasis", "chronic mucocutaneous candidiasis (disease)", "familial CMC", "familial candidiasis", "familial chronic mucocutaneous candidiasis"; "Orphanet:1334"; ; rdfs:label "Chronic mucocutaneous candidiasis"@en, "Chronic mucocutaneous candidosis"; "ORPHA:1334" . _:93d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2058"; "MONDO:equivalentTo" . _:93dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002728"; "MONDO:otherHierarchy", "ontobio" . _:93ddd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11907; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11907 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B37.2"; "Attributed"@en . _:93e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B37.2"; "NTBT (narrower term maps to a broader term)"@en . _:93e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:B37.2"; "ORDO:1334/attributed", "ORDO:1334/ntbt", "Orphanet:1334" . _:93e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002178"; "DOID:2058", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1334/e", "Orphanet:1334" . _:93e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002178"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:93e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10009007"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:93e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10009007"; "ORDO:1334/e", "Orphanet:1334" . _:93ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34444"; "DOID:2058", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:93eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:114580"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:93efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:247650"; "BTNT (broader term maps to a narrower term)"@en . _:93f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:252250"; "BTNT (broader term maps to a narrower term)"@en . _:93f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607644"; "BTNT (broader term maps to a narrower term)"@en . _:93f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613108"; "BTNT (broader term maps to a narrower term)"@en . _:93f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613953"; "BTNT (broader term maps to a narrower term)"@en . _:93f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613956"; "BTNT (broader term maps to a narrower term)"@en . _:93f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615527"; "BTNT (broader term maps to a narrower term)"@en . _:93fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616445"; "BTNT (broader term maps to a narrower term)"@en . _:93fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616445"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:93fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:114580"; "MONDO:equivalentTo" . _:9400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234568006"; "DOID:2058", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:9402d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006845"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006845"; "DOID:2058", "MONDO:equivalentTo", "NCIT:C34444", "ORDO:1334/e", "Orphanet:1334" . _:9407d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CANDF"; "MONDO:cjm" . _:9408d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMC"; "Orphanet:1334" . _:940ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic mucocutaneous candidiasis"; "DOID:2058", "MONDO:ambiguous", "NCIT:C34444" . _:940bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic mucocutaneous candidiasis (disease)"; rdfs:comment "preferred label from MONDO" . _:940ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial CMC"; "MONDO:cjm" . _:940fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial candidiasis"; "OMIMPS:114580" . _:9410d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial chronic mucocutaneous candidiasis"; "MONDO:0024486" . _:9411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1334" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas."; , ; , , , , , , ; "Carney syndrome"@en, "Myxoma-spotty pigmentation-endocrine overactivity syndrome"@en; "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas."@en; "orphanet"@en; "DOID:0050471", "GARD:0001119", "ICD-10:D44.8", "ICD10:D44.8", "MESH:D056733", "MONDO:0015285", "MSH:D056733", "MeSH:D056733", "NCIT:C4705", "OMIM:160980", "OMIM:605244", "SCTID:733491005", "UMLS:C0406810", "UMLS:C2607929"; "CNC", "Carney complex", "Carney complex variant", "Carney syndrome", "Carney's syndrome", "Myxoma - spotty pigmentation - endocrine overactivity", "Myxoma-spotty pigmentation-endocrine overactivity syndrome", "NAME syndrome", "atrial myxoma with lentigines", "lamb", "lamb syndrome", "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome", "nevi, atrial myxoma, skin myxoma, ephelides syndrome"; "Carney Complex, type 1", "Carney Complex, type 2"; "Myxoma - spotty pigmentation - endocrine overactivity"; "Orphanet:1359"; ; rdfs:label "Carney complex", "Carney complex"@en; "ORPHA:1359" . _:941ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas."; "Orphanet:1359" . _:941fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050471"; "MONDO:equivalentTo" . _:9420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001119"; "MONDO:equivalentTo", "Orphanet-shared" . _:9422d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11941; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11941 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Attributed"@en . _:9425d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "NTBT (narrower term maps to a broader term)"@en . _:9429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:relatedTo", "ORDO:1359/attributed", "ORDO:1359/ntbt", "Orphanet:1359" . _:942ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056733"; "DOID:0050471", "MONDO:equivalentTo", "ORDO:1359/e", "Orphanet:1359" . _:942fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D056733"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9431d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4705"; "DOID:0050471", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.69/0.86" . _:9433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:160980"; "BTNT (broader term maps to a narrower term)"@en . _:9434d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605244"; "BTNT (broader term maps to a narrower term)"@en . _:9436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:733491005"; "MONDO:equivalentTo" . _:9438d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0406810"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0406810"; "DOID:0050471", "MONDO:equivalentTo", "NCIT:C4705", "ORDO:1359/e", "Orphanet:1359" . _:943ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2607929"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:943bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNC"; "NCIT:C4705" . _:943cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney complex"; rdfs:comment "preferred label from MONDO" . _:943ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney complex variant"; "DOID:0050471" . _:943fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney syndrome"; "DOID:0050471", "Orphanet:1359" . _:9440d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney's syndrome"; "NCIT:C4705" . _:9441d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Myxoma-spotty pigmentation-endocrine overactivity syndrome"; "Orphanet:1359" . _:9442d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAME syndrome"; "DOID:0050471" . _:9443d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atrial myxoma with lentigines"; "NCIT:C4705" . _:9444d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lamb"; "NCIT:C4705" . _:9445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lamb syndrome"; "DOID:0050471" . _:9446d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome"; "NCIT:C4705" . _:9447d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nevi, atrial myxoma, skin myxoma, ephelides syndrome"; "NCIT:C4705" . _:9449d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney Complex, type 1"; "DOID:0050471" . _:944cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney Complex, type 2"; "DOID:0050471" . _:944dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Myxoma - spotty pigmentation - endocrine overactivity"; "GARD:0001119" . _:944ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1359" . a owl:Class; rdfs:subClassOf , , , , ; "CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients."; , ; , , , , , , ; ; "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"@en, "Hereditary multi-infarct dementia"@en; "CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients."@en; "orphanet", "orphanet"@en; "true"; "DOID:13945", "GARD:0001049", "ICD-10:F01.1", "ICD10:F01.1", "ICD9:323.9", "ICD9:447.8", "MESH:D046589", "MONDO:0007432", "MSH:D046589", "MeSH:D046589", "MedDRA:10065551", "NCIT:C84606", "OMIM:125310", "OMIMPS:125310", "SCTID:390936003", "UMLS:C0751587"; "CADASIL", "CADASIL syndrome", "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", "Hereditary multi-infarct dementia", "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy", "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", "hereditary multi-infarct dementia"; "Casil", "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy", "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy", "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL", "dementia, hereditary multi-infarct type", "familial vascular leukoencephalopathy"; "Orphanet:136"; , ; rdfs:label "CADASIL", "CADASIL"@en; "ORPHA:136" . _:9454d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients."; "Orphanet:136" . _:9457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:13945" . _:9459d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13945"; "MONDO:equivalentTo" . _:945ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001049"; "MONDO:equivalentTo", "Orphanet-shared" . _:945cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid11974; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid11974 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F01.1"; "Attributed"@en . _:945ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F01.1"; "NTBT (narrower term maps to a broader term)"@en . _:945fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:F01.1"; "DOID:13945", "ORDO:136/attributed", "ORDO:136/ntbt", "Orphanet:136" . _:9460d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:323.9"; "MONDO:relatedTo", "i2s" . _:9461d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:447.8"; "MONDO:relatedTo", "i2s" . _:9462d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D046589"; "DOID:13945", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:136/e", "Orphanet:136" . _:9463d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D046589"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065551"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9465d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065551"; "ORDO:136/e", "Orphanet:136" . _:9466d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84606"; "DOID:13945", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/13.45" . _:9467d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:125310"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9468d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:125310"; "MONDO:equivalentTo" . _:946ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:390936003"; "DOID:13945", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/27.41" . _:946ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751587"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:946fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751587"; "DOID:13945", "MONDO:equivalentTo", "NCIT:C84606", "OMIM:125310", "ORDO:136/e", "Orphanet:136" . _:9472d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CADASIL"; "MONDO:Lexical", "OMIM:125310" . _:9474d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CADASIL"; rdfs:comment "preferred label from MONDO" . _:9476d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CADASIL syndrome"; "NCIT:C84606" . _:9477d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy"; "OMIMPS:125310" . _:947ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"; "DOID:13945", "Orphanet:136" . _:947cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multi-infarct dementia"; "DOID:13945", "Orphanet:136" . _:947fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Casil"; "OMIM:125310" . _:9482d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy"; "GARD:0001049" . _:9484d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy"; "MONDO:Lexical", "OMIM:125310" . _:9485d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL"; "OMIM:125310" . _:9487d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dementia, hereditary multi-infarct type"; "OMIM:125310" . _:9488d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial vascular leukoencephalopathy"; "GARD:0001049" . _:9489d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:136" . a owl:Class; rdfs:subClassOf , ; "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (see these terms)."; , , , , , ; "CDG"@en, "Carbohydrate deficient glycoprotein syndrome"@en; "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (see these terms)."@en; "orphanet"@en; "DOID:5212", "GARD:0010307", "ICD-10:E77.8", "ICD10:E77.8", "ICD9:271.8", "MESH:D018981", "MONDO:0015286", "NCIT:C84615", "OMIM:614576", "OMIM:615273", "OMIMPS:212065", "SCTID:238049009", "UMLS:C0282577"; "CDG", "Carbohydrate deficient glycoprotein syndrome", "carbohydrate deficient glycoprotein syndrome", "carbohydrate-deficient glycoprotein syndrome", "congenital disorder of glycosylation"; "carbohydrate-deficient glycoprotein syndromes", "congenital disorders of glycosylation"; "Orphanet:137"; , ; rdfs:label "Congenital disorder of glycosylation", "Congenital disorder of glycosylation"@en; "ORPHA:137" . _:948fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (see these terms)."; "Orphanet:137" . _:9491d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5212"; "MONDO:equivalentTo" . _:9495d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010307"; "MONDO:equivalentTo", "Orphanet-shared" . _:9498d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12006; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12006 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E77.8"; "Attributed"@en . _:9499d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E77.8"; "NTBT (narrower term maps to a broader term)"@en . _:949bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:137/attributed", "ORDO:137/ntbt", "Orphanet:137" . _:949cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.8"; "MONDO:relatedTo", "i2s" . _:949dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018981"; "DOID:5212", "MONDO:equivalentTo", "MONDO:ontobio" . _:949ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84615"; "DOID:5212", "MONDO:equivalentTo" . _:949fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:212065"; "DOID:5212" . _:94a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238049009"; "DOID:5212", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:94a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0282577"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:94a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0282577"; "DOID:5212", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:137/e", "Orphanet:137" . _:94a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDG"; "Orphanet:137" . _:94a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carbohydrate deficient glycoprotein syndrome"; "Orphanet:137" . _:94aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carbohydrate-deficient glycoprotein syndrome"; "DOID:5212" . _:94afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital disorder of glycosylation"; rdfs:comment "preferred label from MONDO" . _:94b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carbohydrate-deficient glycoprotein syndromes"; "GARD:0010307" . _:94b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital disorders of glycosylation"; "GARD:0010307" . _:94b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:137" . a owl:Class; rdfs:subClassOf , , , ; "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.", "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling."; , , , , ; "NF1-like syndrome"@en, "Neurofibromatosis 1-like syndrome"@en; "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling."@en; "orphanet", "orphanet"@en; "GARD:0010714", "ICD-10:Q85.0", "ICD10:Q85.0", "ICD9:709.09", "MESH:C548032", "MONDO:0012669", "MSH:C548032", "MeSH:C548032", "OMIM:611431", "SCTID:703541007", "UMLS:C1969623"; "Legius syndrome", "NF1-like syndrome", "Neurofibromatosis 1-like syndrome", "neurofibromatosis 1-like syndrome"; "neurofibromatosis type 1 like syndrome", "neurofibromatosis type 1-like syndrome"; "Orphanet:137605"; , ; rdfs:label "Legius syndrome", "Legius syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome"^^xsd:anyURI; "ORPHA:137605" . _:94b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling."; "Orphanet:137605" . _:94bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010714"; "MONDO:equivalentTo" . _:94bcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12026; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12026 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.0"; "Attributed"@en . _:94bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.0"; "NTBT (narrower term maps to a broader term)"@en . _:94e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.0"; "ORDO:137605/attributed", "ORDO:137605/ntbt", "Orphanet:137605" . _:94e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:709.09"; "MONDO:relatedTo", "i2s" . _:94e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C548032"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:137605/e", "Orphanet:137605" . _:94ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C548032"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:94ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611431"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:94ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611431"; "MONDO:equivalentTo", "ORDO:137605/e", "Orphanet:137605" . _:94efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703541007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.15" . _:94f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1969623"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:94f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1969623"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:611431", "ORDO:137605/e", "Orphanet:137605" . _:94f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Legius syndrome"; "OMIM:611431" . _:94f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Legius syndrome"; rdfs:comment "preferred label from MONDO" . _:94f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NF1-like syndrome"; "Orphanet:137605" . _:94f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis 1-like syndrome"; "Orphanet:137605" . _:94fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 1 like syndrome"; "GARD:0010714" . _:94fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 1-like syndrome"; "OMIM:611431" . _:94fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010714" . _:9502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:137605" . _:9503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome"^^xsd:anyURI; "GARD:0010714" . a owl:Class; rdfs:subClassOf ; "Nephrogenic fibrosing dermopathy"@en; "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease."@en; "orphanet"@en; "MedDRA:10067467", "UMLS:C1619692", "UMLS:C3888044"; rdfs:label "Nephrogenic systemic fibrosis"@en; "ORPHA:137617" . _:9505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067467"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9506d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1619692"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3888044"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase."; , , , , ; "GSD due to muscle and heart glycogen synthase deficiency"@en, "GSD type 0b"@en, "Glycogen storage disease type 0b"@en, "Glycogenosis due to muscle and heart glycogen synthase deficiency"@en, "Glycogenosis type 0b"@en; "Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase."@en; "orphanet"@en; "GARD:0010760", "ICD-10:E74.0", "ICD10:E74.0", "MESH:C566917", "MONDO:0012693", "OMIM:611556", "SCTID:725027004", "UMLS:C1969054"; "GSD due to muscle and heart glycogen synthase deficiency", "GSD type 0b", "Glycogen storage disease type 0b", "Glycogenosis due to muscle and heart glycogen synthase deficiency", "Glycogenosis type 0b", "glycogen storage disease due to glycogen synthase deficiency of heart", "glycogen storage disease due to muscle and heart glycogen synthase deficiency", "glycogen storage disease type 0b", "glycogenosis due to muscle and heart glycogen synthase deficiency", "glycogenosis type 0b", "heart glycogen storage disease due to glycogen synthase deficiency"; "GSD 0B", "GSD0B", "glycogen storage disease 0, muscle", "glycogen storage disease 0, muscle; GSD0B", "glycogen storage disease type 0, muscle", "muscle glycogen storage disease 0", "muscle glycogen synthase deficiency"; "Orphanet:137625"; ; rdfs:label "Glycogen storage disease due to muscle and heart glycogen synthase deficiency", "Glycogen storage disease due to muscle and heart glycogen synthase deficiency"@en; "ORPHA:137625" . _:9510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase."; "Orphanet:137625" . _:9512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010760"; "MONDO:equivalentTo" . _:9513d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12052; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Attributed"@en . _:9514d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:9515d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:137625/attributed", "ORDO:137625/ntbt", "Orphanet:137625" . _:9516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566917"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611556"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9518d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611556"; "MONDO:equivalentTo", "ORDO:137625/e", "Orphanet:137625" . _:9519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725027004"; "MONDO:equivalentTo" . _:951ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1969054"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:611556" . _:951bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to muscle and heart glycogen synthase deficiency"; "Orphanet:137625" . _:951cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 0b"; "Orphanet:137625" . _:951dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to glycogen synthase deficiency of heart"; "MONDO:design_pattern" . _:9520d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to muscle and heart glycogen synthase deficiency"; rdfs:comment "preferred label from MONDO" . _:9521d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 0b"; "Orphanet:137625" . _:9523d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to muscle and heart glycogen synthase deficiency"; "Orphanet:137625" . _:9524d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type 0b"; "Orphanet:137625" . _:9526d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart glycogen storage disease due to glycogen synthase deficiency"; "MONDO:design_pattern", "MONDO:patterns/location" . _:9527d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD 0B"; "OMIM:611556" . _:9529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD0B"; "MONDO:Lexical", "OMIM:611556" . _:952bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease 0, muscle"; "MONDO:Lexical", "OMIM:611556" . _:952dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease 0, muscle; GSD0B"; "OMIM:611556" . _:952fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 0, muscle"; "GARD:0010760" . _:9531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle glycogen storage disease 0"; "OMIM:611556" . _:9533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle glycogen synthase deficiency"; "OMIM:611556" . _:9537d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:137625" . a owl:Class; rdfs:subClassOf , ; "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism."; , , , ; "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism."@en; "orphanet"@en; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0013617", "OMIM:614192", "SCTID:722122000", "UMLS:C3280095"; "RNF135-related overgrowth syndrome", "overgrowth-macrocephaly-facial dysmorphism syndrome"; "MMFD", "macrocephaly, macrosomia, and facial dysmorphism syndrome", "macrocephaly, macrosomia, and facial dysmorphism syndrome; MMFD"; "Orphanet:137634"; ; rdfs:label "Overgrowth - macrocephaly - facial dysmorphism", "Overgrowth-macrocephaly-facial dysmorphism syndrome"@en; "ORPHA:137634" . _:9544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism."; "Orphanet:137634" . _:9545d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12078; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12078 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:9546d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:9547d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:137634/attributed", "ORDO:137634/ntbt", "Orphanet:137634" . _:954ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614192"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:954cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614192"; "MONDO:equivalentTo", "ORDO:137634/e", "Orphanet:137634" . _:954fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722122000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.78/0.38/0.81" . _:9551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3280095"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614192" . _:9552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RNF135-related overgrowth syndrome"; "Orphanet:137634" . _:9553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "overgrowth-macrocephaly-facial dysmorphism syndrome"; rdfs:comment "preferred label from MONDO" . _:9554d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MMFD"; "MONDO:Lexical", "OMIM:614192" . _:9555d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrocephaly, macrosomia, and facial dysmorphism syndrome"; "MONDO:Lexical", "OMIM:614192" . _:9556d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrocephaly, macrosomia, and facial dysmorphism syndrome; MMFD"; "OMIM:614192" . _:9557d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:137634" . a owl:Class; rdfs:subClassOf , , ; "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas."; , ; , , , ; "CM-AVM"@en; "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas."@en; "orphanet"@en; "GARD:0011904", "ICD-10:Q27.3", "ICD10:Q27.3", "ICD9:747.69", "MESH:C564254", "MONDO:0012016", "OMIM:608354", "SCTID:703533007", "UMLS:C1842180"; "CM-AVM", "capillary malformation-arteriovenous malformation syndrome"; "CM-AVM syndrome", "CMAVM", "capillary malformation without arteriovenous malformation", "capillary malformation-arteriovenous malformation", "capillary malformation-arteriovenous malformation; CMAVM"; "Orphanet:137667"; , ; rdfs:label "Capillary malformation - arteriovenous malformation", "Capillary malformation-arteriovenous malformation"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome"^^xsd:anyURI; "ORPHA:137667" . _:9558d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas."; "Orphanet:137667" . _:955ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011904"; "MONDO:equivalentTo" . _:955dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12094; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12094 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q27.3"; "Attributed"@en . _:955fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q27.3"; "NTBT (narrower term maps to a broader term)"@en . _:9561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q27.3"; "ORDO:137667/attributed", "ORDO:137667/ntbt", "Orphanet:137667" . _:9562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:747.69"; "MONDO:relatedTo", "i2s" . _:9564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564254"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9565d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608354"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608354"; "MONDO:equivalentTo", "ORDO:137667/e", "Orphanet:137667" . _:9569d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703533007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:956ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1842180"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:956bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CM-AVM"; "Orphanet:137667" . _:956dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "capillary malformation-arteriovenous malformation syndrome"; rdfs:comment "preferred label from MONDO" . _:956fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CM-AVM syndrome"; "GARD:0011904" . _:9571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMAVM"; "MONDO:Lexical", "OMIM:608354" . _:9572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "capillary malformation without arteriovenous malformation"; "OMIM:608354" . _:9574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "capillary malformation-arteriovenous malformation"; "MONDO:Lexical", "OMIM:608354" . _:9575d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "capillary malformation-arteriovenous malformation; CMAVM"; "OMIM:608354" . _:9577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0011904" . _:9578d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:137667" . _:957bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome"^^xsd:anyURI; "GARD:0011904" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015310", "UMLS:CN226655"; "syndromic optic nerve hypoplasia"; "Orphanet:137905"; ; rdfs:label "Syndromic optic nerve hypoplasia" . _:9582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226655"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:9584d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic optic nerve hypoplasia"; rdfs:comment "preferred label from MONDO" . _:9586d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:137905" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , ; "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).", "CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)."; , ; , , , , , , , ; "CHARGE association"@en, "Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome"@en, "Hall-Hittner syndrome"@en; "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)."@en; "orphanet", "orphanet"@en; "DOID:0050834", "GARD:0000029", "ICD-10:Q87.8", "ICD10:Q87.8", "ICD10:Q89.8", "ICD9:759.89", "MESH:D058747", "MONDO:0008965", "MSH:D058747", "MeSH:D058747", "MedDRA:10064063", "NCIT:C75100", "OMIM:214800", "SCTID:47535005", "UMLS:C0265354"; "CHARGE association", "CHARGE syndrome", "Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities", "Hall-Hittner syndrome", "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association", "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association", "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome"; "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies", "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies"; "Orphanet:138"; , ; rdfs:label "CHARGE syndrome", "CHARGE syndrome"@en; "ORPHA:138" . _:9598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)."; "Orphanet:138" . _:9599d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050834"; "MONDO:equivalentTo" . _:959ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000029"; "MONDO:equivalentTo" . _:959bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12120; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12120 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:959cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:959ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:138/attributed", "ORDO:138/ntbt", "Orphanet:138" . _:959fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q89.8"; "DOID:0050834" . _:95a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:95a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058747"; "DOID:0050834", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:138/e", "Orphanet:138" . _:95a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058747"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:95a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064063"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:95a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064063"; "ORDO:138/e", "Orphanet:138" . _:95a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75100"; "DOID:0050834", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:95a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:214800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:95acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:214800"; "DOID:0050834", "GARD:0000029", "MONDO:equivalentTo", "ORDO:138/e", "Orphanet:138" . _:95b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:47535005"; "DOID:0050834", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.76/6.61" . _:95b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265354"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:95b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265354"; "DOID:0050834", "GARD:0000029", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C75100", "OMIM:214800", "ORDO:138/e", "Orphanet:138" . _:95b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHARGE association"; "DOID:0050834", "GARD:0000029", "Orphanet:138" . _:95bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHARGE syndrome"; "OMIM:214800" . _:95bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHARGE syndrome"; rdfs:comment "preferred label from MONDO" . _:95bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hall-Hittner syndrome"; "GARD:0000029", "OMIM:214800", "Orphanet:138" . _:95c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association"; "NCIT:C75100" . _:95c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association"; "NCIT:C75100" . _:95c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome"; "Orphanet:138" . _:95c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies"; "OMIM:214800" . _:95cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies"; "GARD:0000029" . _:95cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:138" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015320", "UMLS:CN199291"; "Pierre Robin sequence associated with a chromosomal anomaly", "Pierre Robin syndrome associated with a chromosomal anomaly"; "Orphanet:138047"; ; rdfs:label "Pierre Robin syndrome associated with a chromosomal anomaly" . _:95ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199291"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:95cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pierre Robin sequence associated with a chromosomal anomaly"; "Orphanet:138047" . _:95d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pierre Robin syndrome associated with a chromosomal anomaly"; rdfs:comment "preferred label from MONDO" . _:95d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:138047" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015322", "UMLS:CN199293"; "Pierre Robin sequence associated with bone disease", "Pierre Robin syndrome associated with bone disease"; "Orphanet:138055"; ; rdfs:label "Pierre Robin syndrome associated with bone disease" . _:95d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199293"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:95d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pierre Robin sequence associated with bone disease"; "Orphanet:138055" . _:95d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pierre Robin syndrome associated with bone disease"; rdfs:comment "preferred label from MONDO" . _:95dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:138055" . a owl:Class; rdfs:subClassOf ; "Syndrome associated with Pierre Robin sequence"; rdfs:label "Syndrome associated with Pierre Robin syndrome" . a owl:Class; rdfs:subClassOf , , , ; ; ; "MONDO:0015327"; "developmental anomaly of metabolic origin"; "Orphanet:139009"; ; rdfs:label "Developmental anomaly of metabolic origin", "Developmental anomaly of metabolic origin"@en; "ORPHA:139009" . _:95ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139009" . _:95dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "developmental anomaly of metabolic origin"; rdfs:comment "preferred label from MONDO" . _:95e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139009" . a owl:Class; rdfs:subClassOf ; "Rare skeletal development disorder"@en; "UMLS:C0005941"; rdfs:label "Rare bone development disorder"@en; "ORPHA:139012" . _:95e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005941"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Malformation syndrome with short stature"@en; "ORPHA:139021" . a owl:Class; rdfs:subClassOf ; rdfs:label "Overgrowth/obesity syndrome"@en; "ORPHA:139024" . a owl:Class; rdfs:subClassOf , , ; , ; ; "ICD10:Q82", "MONDO:0015331", "UMLS:CN199361"; "malformation syndrome with skin/mucosae involvement"; "Orphanet:139027"; ; rdfs:label "Malformation syndrome with skin/mucosae involvement", "Rare developmental defect with skin/mucosae involvement"@en; "ORPHA:139027" . _:95e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139027" . _:95ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199361"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:95ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malformation syndrome with skin/mucosae involvement"; rdfs:comment "preferred label from MONDO" . _:95edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139027" . a owl:Class; rdfs:subClassOf , , ; , ; ; "MONDO:0015332", "UMLS:CN199362"; "rare developmental defect with connective tissue involvement"; "Orphanet:139030"; , ; rdfs:label "Malformation syndrome with connective tissue involvement", "Rare developmental defect with connective tissue involvement"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:139030" . _:9617d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139030" . _:9619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199362"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:961ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare developmental defect with connective tissue involvement"; rdfs:comment "preferred label from MONDO" . _:961cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139030" . a owl:Class; rdfs:subClassOf ; , ; "true"; "MONDO:0015335", "UMLS:CN199365"; "orofacial clefting syndrome"; "Orphanet:139039"; ; rdfs:label "Orofacial clefting syndrome", "Orofacial clefting syndrome"@en; "ORPHA:139039" . _:9621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199365"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9623d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofacial clefting syndrome"; rdfs:comment "preferred label from MONDO" . _:9624d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139039" . a owl:Class; rdfs:subClassOf , ; "A craniosynostosis that is part of a larger syndrome."; , ; "MONDO:0015338", "OMIM:617746", "UMLS:CN226660"; "syndrome associated with craniosynostosis", "syndromic craniosynostosis"; "syndrome associated with craniosynostosis"; "Orphanet:139393"; ; rdfs:label "Syndromic craniosynostosis" . _:9629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A craniosynostosis that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:962ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617746"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:962bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226660"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:962cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with craniosynostosis"; "MONDO:patterns/syndromic" . _:962ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic craniosynostosis"; "MONDO:patterns/syndromic" . _:9630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic craniosynostosis"; rdfs:comment "preferred label from MONDO" . _:9632d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with craniosynostosis"; "MONDO:patterns/syndromic" . _:9633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139393" . a owl:Class; rdfs:subClassOf ; "DRESS syndrome"@en, "Drug reaction eosinophilic systemic syndrome"@en; "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6."@en; "orphanet"@en; "ICD-10:T78.4", "MedDRA:10058919", "UMLS:C1142139", "UMLS:C3541994"; rdfs:label "Drug rash with eosinophilia and systemic symptoms"@en; "ORPHA:139402" . _:9634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T78.4"; "NTBT (narrower term maps to a broader term)"@en . _:9635d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058919"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1142139"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3541994"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin."; , , , , , ; "Autosomal dominant hereditary hemochromatosis"@en, "Ferroportin disease"@en, "Hemochromatosis due to defect in ferroportin"@en; "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin."@en; "orphanet", "orphanet"@en; "DOID:0111028", "GARD:0010094", "ICD-10:E83.1", "ICD10:E83.1", "MESH:C537249", "MONDO:0011631", "MSH:C537249", "MeSH:C537249", "OMIM:606069", "SCTID:719975002", "UMLS:C1853733"; "Autosomal dominant hereditary hemochromatosis", "Ferroportin disease", "HFE4", "Hemochromatosis due to defect in ferroportin", "SLC40A1 hereditary hemochromatosis", "autosomal dominant hereditary hemochromatosis", "ferroportin disease", "hemochromatosis due to defect in ferroportin", "hemochromatosis type 4", "hereditary hemochromatosis caused by mutation in SLC40A1"; "hemochromatosis due to defect in ferroportin", "hemochromatosis, autosomal dominant", "hemochromatosis, type 4", "hemochromatosis, type 4; HFE4"; "Orphanet:139491"; , ; rdfs:label "Hemochromatosis type 4", "Hemochromatosis type 4"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4"^^xsd:anyURI; "ORPHA:139491" . _:9640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin."; "Orphanet:139491" . _:9642d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0111028"; "MONDO:equivalentTo" . _:9644d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010094"; "MONDO:equivalentTo" . _:9647d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12184; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12184 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1"; "Attributed"@en . _:9649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1"; "NTBT (narrower term maps to a broader term)"@en . _:964bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.1"; "DOID:0111028", "MONDO:subClassOf", "ORDO:139491/attributed", "ORDO:139491/ntbt", "Orphanet:139491" . _:964cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537249"; "DOID:0111028", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:139491/e", "Orphanet:139491" . _:964fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537249"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606069"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9652d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606069"; "DOID:0111028", "MONDO:equivalentTo", "ORDO:139491/e", "Orphanet:139491" . _:9655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:719975002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:9657d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853733"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9658d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853733"; "DOID:0111028", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:606069", "ORDO:139491/e", "Orphanet:139491" . _:965bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HFE4"; "DOID:0111028", "MONDO:Lexical", "OMIM:606069" . _:965ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLC40A1 hereditary hemochromatosis"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:965fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hereditary hemochromatosis"; "DOID:0111028", "Orphanet:139491" . _:9660d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ferroportin disease"; "DOID:0111028", "Orphanet:139491" . _:9661d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemochromatosis due to defect in ferroportin"; "DOID:0111028", "Orphanet:139491" . _:9662d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemochromatosis type 4"; rdfs:comment "preferred label from MONDO" . _:9663d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hemochromatosis caused by mutation in SLC40A1"; "MONDO:design_pattern" . _:9664d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemochromatosis due to defect in ferroportin"; "OMIM:606069" . _:9665d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemochromatosis, autosomal dominant"; "OMIM:606069" . _:9666d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemochromatosis, type 4"; "MONDO:Lexical", "OMIM:606069" . _:9667d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemochromatosis, type 4; HFE4"; "OMIM:606069" . _:966ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010094" . _:966cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139491" . _:966ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4"^^xsd:anyURI; "GARD:0010094" . a owl:Class; rdfs:subClassOf , , ; , , , ; "use http://www.orpha.net/ORDO/Orphanet_564 with label: Meckel syndrome"@en; "ICD10:Q87.8", "MESH:C563731", "MONDO:0012257", "OMIM:609345", "UMLS:C1836287"; "Cerebrorenodigital syndrome"; "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula"; "Orphanet:1396"; ; rdfs:label "Cerebro-reno-digital syndrome", "OBSOLETE: Cerebrorenodigital syndrome"@en . _:9673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:1396/attributed", "ORDO:1396/ntbt", "Orphanet:1396" . _:9679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563731"; "MONDO:equivalentTo", "MONDO:ontobio" . _:967cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609345"; "MONDO:equivalentTo", "ORDO:1396/e", "Orphanet:1396" . _:967ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1836287"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:609345", "Orphanet:1396" . _:967fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cerebrorenodigital syndrome"; rdfs:comment "preferred label from MONDO" . _:9680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula"; "OMIM:609345" . _:9681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1396" . a owl:Class; rdfs:subClassOf , , , ; "The inherited predisposition toward getting a tumor."; , , , , , , ; "MESH:D009386", "MONDO:0015356", "NCIT:C3266", "SCTID:699346009", "UMLS:C0027672", "UMLS:CN199448", "UMLS:CN882908"; "cancer syndrome, hereditary", "cancer syndromes, hereditary", "familial neoplastic syndrome", "familial tumor syndrome", "hereditary cancer syndrome", "hereditary cancer syndromes", "hereditary neoplastic syndrome", "hereditary neoplastic syndromes", "hereditary tumor syndrome", "inherited cancer syndrome", "inherited cancer-predisposing syndrome", "neoplastic syndrome, hereditary", "syndrome, hereditary cancer", "syndrome, hereditary neoplastic", "syndromes, hereditary cancer", "syndromes, hereditary neoplastic"; "Orphanet:140162"; , ; rdfs:label "Inherited cancer-predisposing syndrome", "Inherited cancer-predisposing syndrome"@en; "ORPHA:140162" . _:9686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The inherited predisposition toward getting a tumor."; "NCIT:C3266" . _:9687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009386"; "MONDO:equivalentTo" . _:9688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3266"; "MONDO:equivalentTo" . _:9689d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:699346009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/6.67" . _:968ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027672"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo", "NCIT:C3266" . _:968bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199448"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:968cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN882908"; "MEDGEN:kboom-pr93-c94", "MONDO:equivalentTo" . _:968dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer syndrome, hereditary"; "MESH:D009386" . _:968ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer syndromes, hereditary"; "MESH:D009386" . _:9690d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial neoplastic syndrome"; "NCIT:C3266" . _:9692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial tumor syndrome"; "NCIT:C3266" . _:9693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary cancer syndrome"; "MESH:D009386" . _:9694d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary cancer syndromes"; "MESH:D009386" . _:9695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary neoplastic syndrome"; "MESH:D009386", "MONDO:patterns/hereditary", "NCIT:C3266" . _:9696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary neoplastic syndrome"; rdfs:comment "preferred label from MONDO" . _:9697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary neoplastic syndromes"; "MESH:D009386" . _:9698d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary tumor syndrome"; "NCIT:C3266" . _:9699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited cancer syndrome"; "NCIT:C3266" . _:969ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited cancer-predisposing syndrome"; "Orphanet:140162" . _:969bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplastic syndrome, hereditary"; "MESH:D009386" . _:969cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, hereditary cancer"; "MESH:D009386" . _:969dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, hereditary neoplastic"; "MESH:D009386" . _:969ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, hereditary cancer"; "MESH:D009386" . _:969fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, hereditary neoplastic"; "MESH:D009386" . _:96a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:140162" . a owl:Class; rdfs:subClassOf ; "ICD-10:E20.8"; rdfs:label "Secondary hypoparathyroidism due to impaired parathormon secretion"@en; "ORPHA:140286" . _:96a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa."; , ; "orphanet"; "MONDO:0015369", "UMLS:CN199461"; "JSRD", "Joubert syndrome and related disorders"; "Orphanet:140874"; ; rdfs:label "Joubert syndrome and related disorders" . _:96a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa."; "Orphanet:140874" . _:96a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199461"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:96abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JSRD"; "Orphanet:140874" . _:96acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome and related disorders"; rdfs:comment "preferred label from MONDO" . _:96add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:140874" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi."; , , , , , ; "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome"@en, "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"@en; "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi."@en; "orphanet"@en; "DOID:0080351", "GARD:0010939", "GARD:10939", "ICD-10:Q87.3", "ICD10:Q87.3", "ICD10CQ87.3", "MESH:C567863", "MONDO:0013038", "OMIM:612918", "ORDO:140944", "SCTID:719475006", "UMLS:C2752042"; "CLOVES syndrome", "Congenital lipomatous overgrowth - vascular malformation - epidermal nevi", "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"; "CLOVE syndrome", "congenital lipomatous overgrowth - vascular malformation - epidermal nevi", "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities", "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi"; "Orphanet:140944"; ; rdfs:label "CLOVE syndrome", "CLOVES syndrome"@en; "ORPHA:140944" . _:96b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi."; "Orphanet:140944" . _:96b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080351"; "MONDO:equivalentTo" . _:96b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010939"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:96b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:10939"; "DOID:0080351" . _:96bad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12251; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12251 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:96bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:96c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:140944/attributed", "ORDO:140944/ntbt", "Orphanet:140944" . _:96c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10CQ87.3"; "DOID:0080351" . _:96c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567863"; "MONDO:equivalentTo", "MONDO:ontobio" . _:96c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612918"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:96c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612918"; "DOID:0080351", "MONDO:equivalentTo", "ORDO:140944/e", "Orphanet:140944" . _:96cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORDO:140944"; "DOID:0080351" . _:96cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:719475006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.74/5.63" . _:96ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2752042"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:612918" . _:96cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLOVES syndrome"; "OMIM:612918" . _:96ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLOVES syndrome"; rdfs:comment "preferred label from MONDO" . _:96cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi"; "DOID:0080351" . _:96d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome"; "Orphanet:140944" . _:96d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"; "Orphanet:140944" . _:96d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLOVE syndrome"; "OMIM:612918" . _:96d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipomatous overgrowth - vascular malformation - epidermal nevi"; "GARD:0010939" . _:96d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities"; "OMIM:612918" . _:96d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi"; "OMIM:612918" . _:96d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:140944" . a owl:Class; rdfs:subClassOf , , , ; "Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia."; , , ; "Conorenal syndrome"@en, "Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome"@en; "Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia."@en; "orphanet"@en; "GARD:0008600", "ICD-10:Q87.5", "ICD10:Q87.5", "MONDO:0015373", "MSH:C535463", "MeSH:C535463", "OMIM:266920", "OMIM:615630", "UMLS:C1849437"; "Conorenal syndrome", "Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia", "Saldino-Mainzer syndrome", "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome"; "Mainzer Saldino syndrome"; "Orphanet:140969"; ; rdfs:label "Saldino-Mainzer syndrome", "Saldino-Mainzer syndrome"@en; "ORPHA:140969" . _:96ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia."; "Orphanet:140969" . _:96dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008600"; "MONDO:equivalentTo", "Orphanet-shared" . _:96e1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12274; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12274 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.5"; "Attributed"@en . _:96e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.5"; "NTBT (narrower term maps to a broader term)"@en . _:96e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.5"; "ORDO:140969/attributed", "ORDO:140969/ntbt", "Orphanet:140969" . _:96e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535463"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:96e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:266920"; "BTNT (broader term maps to a narrower term)"@en . _:96ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615630"; "NTBT (narrower term maps to a broader term)"@en . _:96ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849437"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:96ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Conorenal syndrome"; "Orphanet:140969" . _:96edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Saldino-Mainzer syndrome"; rdfs:comment "preferred label from MONDO" . _:96eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome"; "Orphanet:140969" . _:96f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mainzer Saldino syndrome"; "GARD:0008600" . _:96f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:140969" . a owl:Class; rdfs:subClassOf , , , ; "RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia."; , , , , ; "Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"@en; "RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia."@en; "orphanet"@en; "GARD:0009681", "MESH:C537612", "MONDO:0011202", "MSH:C537612", "MeSH:C537612", "OMIM:602152", "SCTID:723999009", "UMLS:C1865794"; "RHYNS syndrome", "Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia", "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"; "retinitis pigmentosa syndrome", "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia"; "Orphanet:140976"; ; rdfs:label "RHYNS syndrome", "RHYNS syndrome"@en; "ORPHA:140976" . _:96fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia."; "Orphanet:140976" . _:96ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009681"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:9700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537612"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:140976/e", "Orphanet:140976" . _:971ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537612"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:971cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602152"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:971ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602152"; "MONDO:equivalentTo", "ORDO:140976/e", "Orphanet:140976" . _:971fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:723999009"; "MONDO:equivalentTo" . _:9720d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1865794"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1865794"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:602152", "ORDO:140976/e", "Orphanet:140976" . _:9725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RHYNS syndrome"; "OMIM:602152" . _:9726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RHYNS syndrome"; rdfs:comment "preferred label from MONDO" . _:9727d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"; "Orphanet:140976" . _:9728d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinitis pigmentosa syndrome"; "OMIM:602152" . _:972ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia"; "OMIM:602152" . _:972cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:140976" . a owl:Class; rdfs:subClassOf , , , ; "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait."; , , , , ; "DOID:4501", "GARD:0010692", "ICD10:Q87.0", "ICD9:759.89", "MESH:D009958", "MONDO:0015375", "OMIM:617127", "OMIM:617563", "SCTID:52868006", "UMLS:C0029294"; "OFD", "Oral-facial-digital syndrome", "oral-facial-digital syndrome", "orofaciodigital syndrome"; "oral facial digital syndromes", "oral-facial-digital syndromes", "orofaciodigital syndromes"; "Orphanet:140997"; ; rdfs:label "Orofaciodigital syndrome" . _:9732d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait."; "MESH:D009958" . _:9733d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4501"; "MONDO:equivalentTo" . _:9735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010692"; "MONDO:equivalentTo" . _:9737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.0"; "ORDO:140997/inclusion", "ORDO:140997/ntbt", "Orphanet:140997" . _:9739d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:973ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009958"; "DOID:4501", "MONDO:equivalentTo" . _:973bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617127"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:973cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617563"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:973ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:52868006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.75/1.28" . _:973fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OFD"; "Orphanet:140997" . _:9740d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral-facial-digital syndrome"; "Orphanet:140997" . _:9741d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndrome"; "MONDO:0003020" . _:9742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndrome"; rdfs:comment "preferred label from MONDO" . _:9743d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral facial digital syndromes"; "GARD:0010692" . _:9744d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral-facial-digital syndromes"; "GARD:0010692" . _:9745d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndromes"; "GARD:0010692" . _:9748d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:140997" . a owl:Class; rdfs:subClassOf , ; "Craniofacial cleft"@en; "ICD-10:Q18.8", "UMLS:C0685787"; rdfs:label "Facial cleft"@en; "ORPHA:141229" . _:974bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q18.8"; "NTBT (narrower term maps to a broader term)"@en . _:974cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0685787"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors."@en; "orphanet"@en; "ICD-10:C75.0", "OMIM:608266", "UMLS:C0687150"; rdfs:label "Parathyroid carcinoma"@en; "ORPHA:143" . _:974dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C75.0"; "NTBT (narrower term maps to a broader term)"@en . _:974fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608266"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0687150"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.", "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)."; ; , , , , , , ; "orphanet"; "HNPCC - hereditary nonpolyposis colon cancer", "hereditary nonpolyposis colorectal cancer", "hereditary nonpolyposis colorectal neoplasm"; "DOID:3883", "EFO:0007354", "ICD-10:D48.9", "ICD10:C18", "ICD10:C18.0", "ICD10:C18.1", "ICD10:C18.2", "ICD10:C18.3", "ICD10:C18.4", "ICD10:C18.5", "ICD10:C18.6", "ICD10:C18.7", "ICD10:C18.9", "ICD10:D48.9", "MONDO:0005835", "MSH:D003123", "MeSH:D003123", "MedDRA:10051981", "NCIT:C8494", "OMIM:120435", "OMIM:609310", "OMIM:613244", "OMIM:614331", "OMIM:614337", "OMIM:614350", "OMIM:614385", "SCTID:716318002", "UMLS:C1112155", "UMLS:C1333990"; "Familial nonpolyposis colon cancer", "Familial nonpolyposis colorectal cancer", "HNPCC", "Hereditary colorectal endometrial cancer syndrome", "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)", "Hereditary nonpolyposis colon cancer", "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)", "Hereditary nonpolyposis colorectal cancer", "Lynch syndrome", "coca 1", "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)", "hereditary defective mismatch repair syndrome", "hereditary non-polyposis colon cancer type 1"; "Orphanet:144"; , ; rdfs:comment "Editor note: check relationship to HNPPC"; rdfs:label "Lynch syndrome", "Lynch syndrome"@en; "ORPHA:144" . _:975bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present."; "NCIT:P378" . _:975cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HNPCC - hereditary nonpolyposis colon cancer"; "DOID:3883" . _:975dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary nonpolyposis colorectal cancer"; "DOID:3883" . _:9760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary nonpolyposis colorectal neoplasm"; "DOID:3883" . _:9761d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3883"; "EFO:0007354", "MONDO:equivalentTo" . _:9762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0007354"; "MONDO:equivalentTo" . _:9763d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12330; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12330 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D48.9"; "Attributed"@en . _:9764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D48.9"; "NTBT (narrower term maps to a broader term)"@en . _:9765d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D48.9"; "ORDO:144/attributed", "ORDO:144/ntbt", "Orphanet:144" . _:9766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D003123"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051981"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:976bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051981"; "ORDO:144/e", "Orphanet:144" . _:976cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C8494"; "DOID:3883", "MONDO:equivalentTo" . _:976ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:120435"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609310"; "BTNT (broader term maps to a narrower term)"@en . _:9772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613244"; "BTNT (broader term maps to a narrower term)"@en . _:9774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614331"; "BTNT (broader term maps to a narrower term)"@en . _:9778d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614337"; "BTNT (broader term maps to a narrower term)"@en . _:977ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614350"; "BTNT (broader term maps to a narrower term)"@en . _:977cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614385"; "BTNT (broader term maps to a narrower term)"@en . _:977ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716318002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.76/0.09" . _:9780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1112155"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9781d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1333990"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9782d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary colorectal endometrial cancer syndrome"; "NCIT:C8494" . _:9784d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)"; "NCIT:C8494" . _:9786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)"; "NCIT:C8494" . _:9787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lynch syndrome"; rdfs:comment "preferred label from MONDO" . _:9788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coca 1"; "DOID:3883"; . _:9789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)"; "NCIT:C8494" . _:978dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary defective mismatch repair syndrome"; "DOID:3883", "NCIT:C8494" . _:978ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary non-polyposis colon cancer type 1"; "DOID:3883" . _:9791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:144" . a owl:Class; rdfs:subClassOf , , , , , , ; "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer."; , , , , , ; ; "Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition."@en; "orphanet"@en; "DC:0000638", "DOID:5683", "GARD:0012351", "GARD:0012352", "ICD-10:C50", "ICD-10:C56", "ICD10:C50", "ICD10:C56", "MESH:D061325", "MONDO:0003582", "NCIT:C8493", "OMIM:604370", "OMIM:612555", "OMIM:613399", "OMIM:614291", "OMIMPS:604370", "SCTID:718220008", "UMLS:C0677776"; "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer", "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)", "breast-ovarian cancer, familial, susceptibility to", "familial breast and ovarian cancer syndrome", "familial breast/ovarian cancer (BRCA1, BRCA2)", "hereditary breast and ovarian cancer", "hereditary breast and ovarian cancer syndrome", "hereditary breast ovarian cancer syndrome", "hereditary breast/ovarian cancer (BRCA1, BRCA2)"; "HBOC syndrome", "HBOC syndromes", "hereditary breast ovarian cancer", "syndrome, HBOC", "syndromes, HBOC"; "Orphanet:145"; , , ; rdfs:comment "Editor note: https://github.com/monarch-initiative/mondo/issues/84"; rdfs:label "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome"@en; "ORPHA:145" . _:9799d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer."; "NCIT:C8493" . _:979bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:145" . _:979dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000638"; "MONDO:equivalentTo" . _:979ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5683"; "MONDO:equivalentTo" . _:97a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012351"; "MONDO:equivalentTo" . _:97a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012352"; "MONDO:equivalentTo" . _:97a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50"; "Attributed"@en . _:97a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50"; "ND (not yet decided/unable to decide)"@en . _:97a7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12365; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "ND (not yet decided/unable to decide)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12365 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C56"; "Attributed"@en . _:97aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C56"; "ND (not yet decided/unable to decide)"@en . _:97aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50"; "MONDO:relatedTo", "ORDO:145/attributed", "ORDO:145/nd", "Orphanet:145" . _:97afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C56"; "ORDO:145/attributed", "ORDO:145/nd", "Orphanet:145" . _:97b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D061325"; "DOID:5683", "MONDO:equivalentTo", "MONDO:ontobio" . _:97b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C8493"; "DOID:5683", "MONDO:equivalentTo", "exact-label-match" . _:97b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604370"; "BTNT (broader term maps to a narrower term)"@en . _:97b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612555"; "BTNT (broader term maps to a narrower term)"@en . _:97b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613399"; "BTNT (broader term maps to a narrower term)"@en . _:97bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614291"; "BTNT (broader term maps to a narrower term)"@en . _:97bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:604370"; "DC:0000638", "MONDO:equivalentTo" . _:97bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718220008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:97bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0677776"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:97bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0677776"; "DOID:5683", "MONDO:equivalentTo", "NCIT:C8493", "ORDO:145/e", "Orphanet:145" . _:97c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer"; "DOID:5683" . _:97c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)"; "DOID:5683" . _:97c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast-ovarian cancer, familial, susceptibility to"; "MONDO:0000163" . _:97c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial breast and ovarian cancer syndrome"; "NCIT:C8493" . _:97c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial breast/ovarian cancer (BRCA1, BRCA2)"; "NCIT:C8493" . _:97cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary breast and ovarian cancer"; "NCIT:C8493" . _:97ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary breast and ovarian cancer syndrome"; "MONDO:0015442", "NCIT:C8493" . _:97cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary breast ovarian cancer syndrome"; rdfs:comment "preferred label from MONDO" . _:97cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary breast/ovarian cancer (BRCA1, BRCA2)"; "NCIT:C8493" . _:97d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HBOC syndrome"; "MESH:D061325" . _:97d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HBOC syndromes"; "MESH:D061325" . _:97d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary breast ovarian cancer"; "DOID:5683" . _:97d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, HBOC"; "MESH:D061325" . _:97d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromes, HBOC"; "MESH:D061325" . _:97d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:145" . a owl:Class; rdfs:subClassOf ; "Papillary or follicular thyroid carcinoma"@en, "Well-differentiated thyroid carcinoma"@en; "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass."@en; "orphanet"@en; "ICD-10:C73", "OMIM:188550", "OMIM:607464", "UMLS:C0238463"; rdfs:label "Differentiated thyroid carcinoma"@en; "ORPHA:146" . _:97dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C73"; "NTBT (narrower term maps to a broader term)"@en . _:97ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188550"; "NTBT (narrower term maps to a broader term)"@en . _:97e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607464"; "BTNT (broader term maps to a narrower term)"@en . _:97e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238463"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis."; "CPS1 deficiency"@en, "CPS1D"@en, "Carbamoyl-phosphate synthetase I deficiency"@en, "Carbamoyl-phosphate synthetase deficiency"@en; "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia."@en; "orphanet", "orphanet"@en; "ICD-10:E72.2", "ICD10:E72.2", "MedDRA:10058297", "OMIM:237300", "UMLS:C0751753"; "CPS1 deficiency", "Carbamoyl-phosphate synthase 1 deficiency", "Carbamoyl-phosphate synthetase 1 deficiency", "Carbamoyl-phosphate synthetase deficiency"; rdfs:label "Carbamoyl-phosphate synthase deficiency", "Carbamoyl-phosphate synthetase 1 deficiency"@en; "ORPHA:147" . _:97e4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12399; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12399 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "Attributed"@en . _:97e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "NTBT (narrower term maps to a broader term)"@en . _:97e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058297"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:97e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:237300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:97ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751753"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia."; , , , , , , ; "Coloboma of optic nerve with renal disease"@en, "Papillo-renal syndrome"@en; "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia."@en; "orphanet", "orphanet"@en; "DOID:0090006", "GARD:0004106", "ICD-10:Q60.4", "ICD10:Q60.4", "ICD9:759.89", "MESH:C537168", "MONDO:0007352", "NCIT:C123230", "OMIM:120330", "SCTID:446449009", "UMLS:C1852759"; "CAKUT with or without ocular abnormalities", "Coloboma of optic nerve with renal disease", "Papillo-renal syndrome", "coloboma of optic nerve with renal disease", "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities", "optic coloboma, vesicoureteral reflux and renal anomalies", "papillo-renal syndrome, optic nerve coloboma with renal disease", "papillorenal syndrome", "renal coloboma syndrome", "renal-coloboma syndrome with macular abnormalities"; "PAPILLORENAL syndrome", "PAPILLORENAL syndrome; PAPRS", "PAPRS", "optic coloboma, vesicoureteral reflux, and renal anomalies", "optic nerve coloboma with renal disease", "renal-coloboma syndrome"; "Orphanet:1475"; , ; rdfs:label "Renal coloboma syndrome", "Renal coloboma syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome"^^xsd:anyURI; "ORPHA:1475" . _:97eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia."; "Orphanet:1475" . _:97efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090006"; "MONDO:equivalentTo" . _:97f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004106"; "MONDO:equivalentTo" . _:97f2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12408; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12408 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.4"; "Attributed"@en . _:97f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.4"; "NTBT (narrower term maps to a broader term)"@en . _:97f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q60.4"; "DOID:0090006", "MONDO:relatedTo", "ORDO:1475/attributed", "ORDO:1475/ntbt", "Orphanet:1475" . _:97f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:97fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537168"; "MONDO:equivalentTo", "MONDO:ontobio" . _:97fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123230"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:97fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:120330"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:120330"; "DOID:0090006", "MONDO:equivalentTo", "ORDO:1475/e", "Orphanet:1475" . _:9801d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:446449009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:9802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1852759"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9805d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1852759"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C123230", "OMIM:120330", "ORDO:1475/e", "Orphanet:1475" . _:9807d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAKUT with or without ocular abnormalities"; "DOID:0090006" . _:9808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillo-renal syndrome"; "Orphanet:1475" . _:9809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma of optic nerve with renal disease"; "DOID:0090006", "Orphanet:1475" . _:980bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities"; "DOID:0090006", "OMIM:120330" . _:980dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "optic coloboma, vesicoureteral reflux and renal anomalies"; "DOID:0090006" . _:9810d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "papillo-renal syndrome, optic nerve coloboma with renal disease"; "DOID:0090006" . _:9821d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "papillorenal syndrome"; "DOID:0090006" . _:9827d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal coloboma syndrome"; rdfs:comment "preferred label from MONDO" . _:982ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal-coloboma syndrome with macular abnormalities"; "DOID:0090006", "OMIM:120330" . _:982dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAPILLORENAL syndrome"; "MONDO:Lexical", "OMIM:120330" . _:982ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAPILLORENAL syndrome; PAPRS"; "OMIM:120330" . _:9830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAPRS"; "MONDO:Lexical", "OMIM:120330" . _:9832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "optic coloboma, vesicoureteral reflux, and renal anomalies"; "OMIM:120330" . _:9833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "optic nerve coloboma with renal disease"; "OMIM:120330" . _:9836d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal-coloboma syndrome"; "OMIM:120330" . _:9838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004106" . _:983ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1475" . _:983dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome"^^xsd:anyURI; "GARD:0004106" . a owl:Class; rdfs:subClassOf , ; "ASD"@en, "Atrial septal defect"@en, "Interauricular communication"@en; "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart."@en; "orphanet"@en; "ICD-10:Q21.1", "ICD10:Q21.1", "MSH:D006344", "MeSH:D006344", "MedDRA:10003664", "MedDRA:10068864", "OMIM:108800", "OMIM:607941", "OMIM:611363", "OMIM:612794", "OMIM:613087", "OMIM:614089", "OMIM:614433", "OMIM:614475", "UMLS:C0018817", "UMLS:C2609256"; "ASD", "Atrial septal defect"; rdfs:label "Interatrial communication"@en, "Interauricular communication"; "ORPHA:1478" . _:9842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q21.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9846d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12439; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12439 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q21.1"; "Specific code (The term has its own code in the ICD10)"@en . _:9847d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006344"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9848d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10003664"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9849d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068864"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:984ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:108800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:984bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607941"; "BTNT (broader term maps to a narrower term)"@en . _:984cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611363"; "BTNT (broader term maps to a narrower term)"@en . _:984dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612794"; "BTNT (broader term maps to a narrower term)"@en . _:984ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613087"; "BTNT (broader term maps to a narrower term)"@en . _:984fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614089"; "BTNT (broader term maps to a narrower term)"@en . _:9850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614433"; "BTNT (broader term maps to a narrower term)"@en . _:9852d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614475"; "BTNT (broader term maps to a narrower term)"@en . _:9853d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018817"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9856d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2609256"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia."; , , , , ; , , , , , , , ; "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia."@en; "orphanet", "orphanet"@en; "COHD:4311402", "DOID:4480", "GARD:0008173", "ICD-10:Q77.4", "ICD10:Q77.4", "MESH:D000130", "MONDO:0007037", "MSH:D000130", "MeSH:D000130", "MedDRA:10000452", "NCIT:C34345", "OMIM:100800", "SCTID:86268005", "UMLS:C0001080"; "achondroplasia", "achondroplastic physique", "chondrodystrophia", "osteosclerosis congenita"; "ach", "achondroplasia; ach", "achondroplastic dwarfism"; "Orphanet:15"; , , ; rdfs:label "Achondroplasia", "Achondroplasia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/8173/achondroplasia"^^xsd:anyURI; "ORPHA:15" . _:9862d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia."; "Orphanet:15" . _:9863d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4311402"; "MONDO:equivalentTo" . _:9864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4480"; "MONDO:equivalentTo" . _:9865d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008173"; "MONDO:equivalentTo" . _:9867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9869d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12459; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12459 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.4"; "Specific code (The term has its own code in the ICD10)"@en . _:986ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q77.4"; "DOID:4480", "MONDO:equivalentTo", "ORDO:15/e", "ORDO:15/specific", "Orphanet:15" . _:986bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000130"; "DOID:4480", "MONDO:equivalentTo", "ORDO:15/e", "Orphanet:15" . _:986ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000130"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:986fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000452"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9871d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000452"; "ORDO:15/e", "Orphanet:15" . _:9872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34345"; "DOID:4480", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:9875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:100800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:100800"; "DOID:4480", "MONDO:equivalentTo", "ORDO:15/e", "Orphanet:15" . _:9877d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:86268005"; "DOID:4480", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.07" . _:987cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001080"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:987dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001080"; "DOID:4480", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C34345", "OMIM:100800", "ORDO:15/e", "Orphanet:15" . _:9881d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achondroplasia"; "MONDO:Lexical", "OMIM:100800" . _:9882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achondroplasia"; rdfs:comment "preferred label from MONDO" . _:9883d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achondroplastic physique"; "DOID:4480" . _:9884d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chondrodystrophia"; "DOID:4480", "MTHICD9_2006:756.4" . _:9885d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteosclerosis congenita"; "CSP2005:2715-2940", "DOID:4480" . _:9886d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ach"; "MONDO:Lexical", "OMIM:100800" . _:9887d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achondroplasia; ach"; "OMIM:100800" . _:9888d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achondroplastic dwarfism"; "GARD:0008173" . _:988ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0008173" . _:988dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:15" . _:9890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/8173/achondroplasia"^^xsd:anyURI; "GARD:0008173" . a owl:Class; rdfs:subClassOf ; "Squamous cell carcinoma of the nasopharynx"@en; "Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx."@en; "orphanet"@en; "ICD-10:C11.0", "ICD-10:C11.1", "ICD-10:C11.2", "ICD-10:C11.3", "MeSH:C538339", "MedDRA:10028793", "OMIM:161550", "OMIM:607107", "OMIM:617075", "UMLS:C0153392", "UMLS:C0238301", "UMLS:C2931822"; rdfs:label "Nasopharyngeal carcinoma"@en; "ORPHA:150" . _:9895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C11.0"; "BTNT (broader term maps to a narrower term)"@en . _:9896d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C11.1"; "BTNT (broader term maps to a narrower term)"@en . _:9898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C11.2"; "BTNT (broader term maps to a narrower term)"@en . _:9899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C11.3"; "BTNT (broader term maps to a narrower term)"@en . _:989cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538339"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:989dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028793"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:989ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:161550"; "BTNT (broader term maps to a narrower term)"@en . _:98a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607107"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:98a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617075"; "BTNT (broader term maps to a narrower term)"@en . _:98a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0153392"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:98a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238301"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:98a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931822"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Adrenocortical carcinoma (ACC) is a cancer that arises from the adrenal cortex."@en; "orphanet"@en; "ICD-10:C74.0", "MeSH:D018268", "MedDRA:10001388", "OMIM:202300", "UMLS:C0206686"; rdfs:label "Adrenocortical carcinoma"@en; "ORPHA:1501" . _:98abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C74.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:98acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018268"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:98add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001388"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:98aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202300"; "BTNT (broader term maps to a narrower term)"@en . _:98afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206686"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)."; , , , , ; "ICD10:Q77.2", "ICD9:756.3", "MESH:D012779", "MONDO:0015461", "MSH:D012779", "NCIT:C85065", "OMIM:617088", "OMIM:617102", "SCTID:205484001", "UMLS:C0036996"; "short rib-polydactyly syndrome"; "Orphanet:1505"; ; rdfs:label "Short rib-polydactyly syndrome" . _:98b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)."; "Orphanet:1505" . _:98b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q77.2"; "ORDO:1505/attributed", "ORDO:1505/ntbt", "Orphanet:1505" . _:98b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.3"; "MONDO:relatedTo", "i2s" . _:98b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012779"; "MONDO:equivalentTo", "ORDO:1505/e", "Orphanet:1505" . _:98b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85065"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:98bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617088"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:98bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617102"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:98bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:205484001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.57" . _:98c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036996"; "MONDO:equivalentTo", "NCIT:C85065", "ORDO:1505/e", "Orphanet:1505" . _:98c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short rib-polydactyly syndrome"; rdfs:comment "preferred label from MONDO" . _:98c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1505" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."; , , , , , , ; "CED"@en, "Sensenbrenner syndrome"@en; "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."@en; "orphanet", "orphanet"@en; "DOID:0050577", "GARD:0000359", "ICD-10:Q87.5", "ICD10:Q87.5", "ICD9:756.9", "MONDO:0009032", "NCIT:C129305", "OMIM:218330", "OMIM:613610", "OMIM:614099", "OMIM:614378", "OMIM:617102", "OMIMPS:218330", "SCTID:254093009", "UMLS:C0432235", "UMLS:CN016627", "UMLS:CN119432"; "CED", "Levin syndrome", "Sensenbrenner syndrome", "cranioectodermal dysplasia"; "Orphanet:1515"; ; rdfs:label "Cranioectodermal dysplasia", "Cranioectodermal dysplasia"@en; "ORPHA:1515" . _:98cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."; "Orphanet:1515" . _:98cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050577"; "MONDO:equivalentTo" . _:98cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000359"; "MONDO:equivalentTo", "Orphanet-shared" . _:98d1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12514; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12514 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.5"; "Attributed"@en . _:98d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.5"; "NTBT (narrower term maps to a broader term)"@en . _:98d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.5"; "ORDO:1515/attributed", "ORDO:1515/ntbt", "Orphanet:1515" . _:98d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.9"; "MONDO:relatedTo", "i2s" . _:98dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129305"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.70/2.55" . _:98dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:218330"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:98ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613610"; "BTNT (broader term maps to a narrower term)"@en . _:98e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614099"; "BTNT (broader term maps to a narrower term)"@en . _:98e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614378"; "BTNT (broader term maps to a narrower term)"@en . _:98e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617102"; "BTNT (broader term maps to a narrower term)"@en . _:98e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:218330"; "MONDO:cjm", "MONDO:equivalentTo" . _:98e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254093009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:98e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0432235"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:98e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0432235"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C129305", "OMIM:218330", "ORDO:1515/e", "Orphanet:1515" . _:98e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN016627"; "MONDO:equivalentTo" . _:98e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN119432"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:98e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CED"; "Orphanet:1515" . _:98ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Levin syndrome"; "DOID:0050577" . _:98f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sensenbrenner syndrome"; "MONDO:0000362", "Orphanet:1515" . _:98f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranioectodermal dysplasia"; "DOID:0050577" . _:98f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranioectodermal dysplasia"; rdfs:comment "preferred label from MONDO" . _:98f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1515" . a owl:Class; rdfs:subClassOf , , ; "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome."; , ; , , , , , , ; "orphanet"; "DOID:2340", "GARD:0006209", "ICD10:Q75.0", "MESH:D003398", "MONDO:0015469", "MSH:D003398", "MedDRA:10048907", "MedDRA:10049889", "NCIT:C84655", "OMIM:123100", "OMIM:615314", "OMIM:615529", "OMIM:616602", "OMIM:617439", "OMIMPS:123100", "UMLS:C0010278"; "craniosynostosis", "craniosynostosis syndrome", "premature closure of cranial sutures"; "CSO"; "Orphanet:1531"; ; rdfs:label "Craniosynostosis" . _:98fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome."; "Orphanet:1531" . _:98fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2340"; "MONDO:equivalentTo" . _:98ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006209"; "MONDO:equivalentTo", "Orphanet-shared" . _:9900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q75.0"; "DOID:2340", "MONDO:equivalentTo", "ORDO:1531/e", "ORDO:1531/specific", "Orphanet:1531" . _:9901d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003398"; "DOID:2340", "MONDO:equivalentTo", "ORDO:1531/e", "Orphanet:1531" . _:9912d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048907"; "ORDO:1531/e", "Orphanet:1531" . _:9914d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049889"; "ORDO:1531/e", "Orphanet:1531" . _:9915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84655"; "DOID:2340", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:9916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616602"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617439"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9918d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:123100"; "MONDO:cjm", "MONDO:equivalentTo" . _:991fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010278"; "DOID:2340", "MONDO:equivalentTo", "NCIT:C84655", "ORDO:1531/e", "Orphanet:1531" . _:9924d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniosynostosis"; rdfs:comment "preferred label from MONDO" . _:9925d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniosynostosis syndrome"; "NCIT:C84655" . _:9926d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "premature closure of cranial sutures"; "DOID:2340", "MTHICD9_2006:756.0" . _:9928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSO"; "GARD:0006209" . _:992ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1531" . a owl:Class; rdfs:subClassOf , ; "Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia."; , ; "ICD10:I42.0", "MONDO:0015470", "OMIM:302045", "OMIM:600884", "OMIM:601154", "OMIM:601493", "OMIM:601494", "OMIM:604145", "OMIM:604288", "OMIM:604765", "OMIM:605582", "OMIM:606685", "OMIM:607482", "OMIM:607487", "OMIM:608569", "OMIM:609909", "OMIM:609915", "OMIM:611407", "OMIM:611615", "OMIM:611878", "OMIM:611879", "OMIM:611880", "OMIM:612158", "OMIM:612877", "OMIM:613122", "OMIM:613172", "OMIM:613252", "OMIM:613286", "OMIM:613424", "OMIM:613426", "OMIM:613642", "OMIM:613694", "OMIM:613697", "OMIM:613740", "OMIM:613881", "OMIM:614672", "OMIM:615184", "OMIM:615235", "OMIM:615248", "OMIM:615373", "OMIM:615396", "OMIM:615916", "UMLS:CN199609"; "Familial or idiopathic dilated cardiomyopathy", "familial isolated dilated cardiomyopathy", "familial or idiopathic dilated cardiomyopathy"; "Orphanet:154"; ; rdfs:label "Familial isolated dilated cardiomyopathy" . _:9933d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia."; "Orphanet:154" . _:9934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.0"; "MONDO:subClassOf", "ORDO:154/attributed", "ORDO:154/ntbt", "Orphanet:154" . _:9935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612158"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:994bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199609"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:994cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial isolated dilated cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:994dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial or idiopathic dilated cardiomyopathy"; "Orphanet:154" . _:994ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:154" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare head and neck malformation"@en; "ORPHA:155832" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0015482"; "otomandibular dysplasia"; "Orphanet:155896"; ; rdfs:label "Otomandibular dysplasia" . _:994fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otomandibular dysplasia"; rdfs:comment "preferred label from MONDO" . _:9950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:155896" . a owl:Class; rdfs:subClassOf , ; "A corneal disease involving changes of the cornea to a cone shape and resulting in progressive thinning of the cornea. This may result in blurry vision, double vision, nearsightedness, astigmatism, and light sensitivity. In more severe cases a scarring or a circle may be seen within the cornea.", "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances."; , , , ; , , , , , , ; "true"; "COHD:374362", "DOID:10126", "GARD:0006824", "HP:0000563", "ICD10:H18.6", "ICD10:H18.60", "ICD9:371.6", "ICD9:371.60", "MESH:D007640", "MONDO:0015486", "MSH:D007640", "MedDRA:10023353", "NCIT:C26806", "OMIM:148300", "OMIMPS:148300", "SCTID:65636009", "UMLS:C0022578", "Wikipedia:Keratoconus"; "KTCN", "bulging cornea", "cone-shaped profusion of cornea", "conical cornea", "keratoconus", "keratoconus (disease)"; "KC", "noninflammatory corneal thining"; "Orphanet:156071"; ; rdfs:label "Keratoconus" . _:9957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances."; "NCIT:P378" . _:9959d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:374362"; "MONDO:equivalentTo" . _:995bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10126"; "MONDO:equivalentTo" . _:995dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006824"; "MONDO:equivalentTo", "Orphanet-shared" . _:9960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000563"; "MONDO:otherHierarchy", "ontobio" . _:9961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H18.6"; "DOID:10126", "ORDO:156071/e", "ORDO:156071/specific", "Orphanet:156071" . _:9963d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H18.60"; "DOID:10126" . _:9965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:371.6"; "DOID:10126" . _:9966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:371.60"; "DOID:10126", "MONDO:equivalentTo", "i2s" . _:9968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007640"; "DOID:10126", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:156071/e", "Orphanet:156071" . _:9969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10023353"; "ORDO:156071/e", "Orphanet:156071" . _:996ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26806"; "DOID:10126", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:996cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:148300"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:996dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:148300"; "MONDO:cjm", "MONDO:equivalentTo" . _:996fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:65636009"; "DOID:10126", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:9971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022578"; "DOID:10126", "MONDO:equivalentTo", "NCIT:C26806", "ORDO:156071/e", "Orphanet:156071" . _:9972d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conical cornea"; "DOID:10126" . _:9974d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratoconus"; "MONDO:ambiguous" . _:9976d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratoconus (disease)"; rdfs:comment "preferred label from MONDO" . _:9978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KC"; "GARD:0006824" . _:997ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "noninflammatory corneal thining"; "GARD:0006824" . _:997bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156071" . a owl:Class; rdfs:subClassOf , ; "A dystonia (disease) that is not part of a larger syndrome."; ; "Pure dystonia"@en; "ICD-10:G24.1", "ICD10:G24.1", "MONDO:0015494", "OMIM:616411"; "Pure dystonia", "isolated dystonia", "isolated dystonic disorder", "nonsyndromic dystonia (disease)", "nonsyndromic dystonic disorder"; "Orphanet:156159"; ; rdfs:label "Isolated dystonia", "Isolated dystonia"@en; "ORPHA:156159" . _:9980d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A dystonia (disease) that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:9981d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12586; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12586 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "Attributed"@en . _:9984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "NTBT (narrower term maps to a broader term)"@en . _:9986d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.1"; "ORDO:156159/attributed", "ORDO:156159/ntbt", "Orphanet:156159" . _:9989d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616411"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:998bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pure dystonia"; "Orphanet:156159" . _:998dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated dystonia"; rdfs:comment "preferred label from MONDO" . _:9990d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic dystonia (disease)"; "MONDO:patterns/isolated" . _:9992d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic dystonic disorder"; "MONDO:patterns/isolated" . _:9993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156159" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015495", "UMLS:CN199632"; "otomandibular dysplasia associated with monogenic syndromes"; "Orphanet:156202"; ; rdfs:label "Otomandibular dysplasia associated with monogenic syndromes" . _:9996d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199632"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "otomandibular dysplasia associated with monogenic syndromes"; rdfs:comment "preferred label from MONDO" . _:999bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156202" . a owl:Class; rdfs:subClassOf , , ; "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)"; , , , , ; "GARD:0003342", "ICD10:Q38.2", "MESH:D008260", "MONDO:0015496", "MSH:C531735", "MSH:D008260", "MedDRA:10025391", "UMLS:C0009677", "UMLS:C0024421"; "macroglossia"; "enlarged tongue", "giant tongue"; "Orphanet:156207"; ; rdfs:label "Macroglossia" . _:99a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)"; "MESH:D008260" . _:99a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003342"; "MONDO:equivalentTo", "Orphanet-shared" . _:99a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q38.2"; "ORDO:156207/e", "ORDO:156207/specific", "Orphanet:156207" . _:99a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008260"; "MONDO:equivalentTo", "ORDO:156207/e", "Orphanet:156207" . _:99a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10025391"; "ORDO:156207/e", "Orphanet:156207" . _:99a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024421"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:156207/e", "Orphanet:156207" . _:99a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macroglossia"; rdfs:comment "preferred label from MONDO" . _:99aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "enlarged tongue"; "GARD:0003342" . _:99add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "giant tongue"; "GARD:0003342" . _:99afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156207" . a owl:Class; rdfs:subClassOf , , ; ; "ICD10:Q38.3", "MONDO:0015497"; "hypoglossia/aglossia"; "Orphanet:156212"; ; rdfs:label "Hypoglossia/aglossia" . _:99b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q38.3"; "ORDO:156212/inclusion", "ORDO:156212/ntbt", "Orphanet:156212" . _:99b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoglossia/aglossia"; rdfs:comment "preferred label from MONDO" . _:99b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156212" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015498", "UMLS:CN199634"; "oromandibular-limb anomalies syndrome"; "Orphanet:156215"; ; rdfs:label "Oromandibular-limb anomalies syndrome" . _:99bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199634"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:99bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oromandibular-limb anomalies syndrome"; rdfs:comment "preferred label from MONDO" . _:99bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156215" . a owl:Class; rdfs:subClassOf , , , , ; , ; "MONDO:0015501", "UMLS:CN199635"; "syndrome or malformation associated with head and neck malformations"; "Orphanet:156237"; ; rdfs:label "Syndrome or malformation associated with head and neck malformations", "Syndrome or malformation associated with head and neck malformations"@en; "ORPHA:156237" . _:99c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199635"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:99c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome or malformation associated with head and neck malformations"; rdfs:comment "preferred label from MONDO" . _:99c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156237" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q31.0", "ICD10:Q31.1", "ICD10:Q31.3", "ICD10:Q31.5", "ICD10:Q31.8", "ICD10:Q31.9", "MONDO:0015504"; "larynx anomaly"; "Orphanet:156249"; ; rdfs:label "Larynx anomaly" . _:99c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q31.0"; "ORDO:156249/btnt", "Orphanet:156249" . _:99c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q31.1"; "MONDO:superClassOf", "ORDO:156249/btnt", "Orphanet:156249" . _:99c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q31.3"; "MONDO:superClassOf", "ORDO:156249/btnt", "Orphanet:156249" . _:99c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q31.5"; "MONDO:superClassOf", "ORDO:156249/btnt", "Orphanet:156249" . _:99c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q31.8"; "ORDO:156249/btnt", "Orphanet:156249" . _:99cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q31.9"; "ORDO:156249/btnt", "Orphanet:156249" . _:99ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "larynx anomaly"; rdfs:comment "preferred label from MONDO" . _:99cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156249" . a owl:Class; rdfs:subClassOf , , , , , , ; "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities."; , , , , ; "Dahlberg syndrome"@en, "Lymphedema-hypoparathyroidism syndrome syndrome"@en; "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities."@en; "orphanet", "orphanet"@en; "GARD:0000237", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:C535769", "MONDO:0009533", "MSH:C535769", "MeSH:C535769", "OMIM:247410", "SCTID:721083007", "UMLS:C1855477"; "Dahlberg syndrome", "Dahlberg-borer-Newcomer syndrome", "Lymphedema - hypoparathyroidism syndrome", "lymphedema-hypoparathyroidism syndrome syndrome"; "Dahlberg Borer Newcomer syndrome", "hypoparathyroidism lymphedema syndrome", "hypoparathyroidism-lymphedema syndrome", "lymphedema hypoparathyroidism syndrome", "lymphedema-hypoparathyroidism syndrome"; "Orphanet:1563"; , ; rdfs:label "Dahlberg-Borer-Newcomer syndrome", "Dahlberg-Borer-Newcomer syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome"^^xsd:anyURI; "ORPHA:1563" . _:99d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities."; "Orphanet:1563" . _:99dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000237"; "MONDO:equivalentTo" . _:99dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:99e2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12629; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12629 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Specific code (The term has its own code in the ICD10)"@en . _:99e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:1563/e", "ORDO:1563/specific", "Orphanet:1563" . _:99e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535769"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1563/e", "Orphanet:1563" . _:99ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535769"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:99eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:247410"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:99f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:247410"; "MONDO:equivalentTo", "ORDO:1563/e", "Orphanet:1563" . _:99f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721083007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/10.44" . _:99f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855477"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:99f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855477"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:247410", "ORDO:1563/e", "Orphanet:1563" . _:99fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dahlberg syndrome"; "Orphanet:1563" . _:99fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dahlberg-borer-Newcomer syndrome"; rdfs:comment "preferred label from MONDO" . _:99fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphedema-hypoparathyroidism syndrome syndrome"; "Orphanet:1563" . _:99fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dahlberg Borer Newcomer syndrome"; "GARD:0000237" . _:99ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism lymphedema syndrome"; "GARD:0000237" . _:9a00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-lymphedema syndrome"; "OMIM:247410" . _:9a02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphedema hypoparathyroidism syndrome"; "GARD:0000237" . _:9a05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphedema-hypoparathyroidism syndrome"; "OMIM:247410" . _:9a08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000237" . _:9a0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1563" . _:9a0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome"^^xsd:anyURI; "GARD:0000237" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015506", "UMLS:CN199638"; "rare syndrome with cardiac malformations"; "Orphanet:156532"; , ; rdfs:label "Rare syndrome with cardiac malformations", "Rare syndrome with cardiac malformations"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:156532" . _:9a0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199638"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9a11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare syndrome with cardiac malformations"; rdfs:comment "preferred label from MONDO" . _:9a14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156532" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic hepatic disease", "Rare genetic hepatic disease"@en; "ORPHA:156601" . a owl:Class; rdfs:subClassOf , , ; "Genetic biliary tract disease."; , ; "MONDO:0015509", "UMLS:CN199642"; "genetic biliary tract disease"; "Orphanet:156607"; ; rdfs:label "Genetic biliary tract disease" . _:9a1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199642"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:9a1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic biliary tract disease"; "MONDO:patterns/genetic" . _:9a1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic biliary tract disease"; rdfs:comment "preferred label from MONDO" . _:9a1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156607" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic respiratory disease", "Rare genetic respiratory disease"@en; "ORPHA:156610" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare genetic urogenital disease", "Rare genetic urogenital disease"@en; "ORPHA:156619" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:83001"; "urogenital tract malformation"; "Orphanet:156622"; ; rdfs:label "Genetic urogenital tract malformation", "Genetic urogenital tract malformation"@en; "ORPHA:156622" . _:9a21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:83001"; "MONDO:equivalentTo" . _:9a23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urogenital tract malformation"; rdfs:comment "preferred label from MONDO" . _:9a24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:83001" . a owl:Class; rdfs:subClassOf , , ; "An instance of hypertension that is caused by a modification of the individual's genome."; , ; "MONDO:0015512", "UMLS:C0598428"; "genetic hypertension", "genetic hypertensive disorder"; "Orphanet:156629"; ; rdfs:label "Genetic hypertension" . _:9a29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of hypertension that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:9a2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0598428"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:9a2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hypertension"; "MONDO:patterns/genetic" . _:9a2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hypertension"; rdfs:comment "preferred label from MONDO" . _:9a2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hypertensive disorder"; "MONDO:patterns/genetic" . _:9a2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:156629" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic endocrine disease", "Rare genetic endocrine disease"@en; "ORPHA:156638" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic endocrine growth disease"@en; "ORPHA:156643" . a owl:Class; rdfs:subClassOf , , ; "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria."; ; , , , , , , ; "CVID"@en, "Idiopathic immunoglobulin deficiency"@en, "Primary antibody deficiency"@en, "Primary hypogammaglobulinemia"@en; "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria."@en; "orphanet", "orphanet"@en; "true"; "COHD:435228", "DOID:12177", "GARD:0006140", "ICD-10:D83.0", "ICD-10:D83.1", "ICD-10:D83.2", "ICD-10:D83.8", "ICD-10:D83.9", "ICD10:D83", "ICD10:D83.0", "ICD10:D83.1", "ICD10:D83.2", "ICD10:D83.8", "ICD10:D83.9", "ICD9:279.06", "MESH:D017074", "MONDO:0015517", "MSH:D017074", "MeSH:D017074", "MedDRA:10021449", "NCIT:C26725", "OMIM:146830", "OMIM:240500", "OMIM:607594", "OMIM:613493", "OMIM:613494", "OMIM:613495", "OMIM:613496", "OMIM:614699", "OMIM:614700", "OMIM:615559", "OMIM:615577", "OMIM:616576", "OMIM:617765", "OMIMPS:607594", "SCTID:23238000", "UMLS:C0009447"; "CVID", "Idiopathic immunoglobulin deficiency", "Primary antibody deficiency", "Primary hypogammaglobulinemia", "common variable agammaglobulinemia", "common variable immunodeficiency", "idiopathic immunoglobulin deficiency", "primary antibody deficiency", "primary hypogammaglobulinemia", "secondary hypogammaglobulinemia", "sporadic hypogammaglobulinemia"; "Immunoglobulin deficiency, late-onset", "acquired agammaglobulinemia", "acquired hypogammaglobulinemia", "common variable hypogamma-globulinemia", "common variable immune deficiency", "hypogamma-globulinemia, acquired"; "Orphanet:1572"; ; rdfs:label "Common variable immunodeficiency", "Common variable immunodeficiency"@en; "ORPHA:1572" . _:9a42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria."; "Orphanet:1572" . _:9a44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:435228"; "MONDO:equivalentTo" . _:9a45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12177"; "MONDO:equivalentTo" . _:9a5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006140"; "MONDO:equivalentTo", "Orphanet-shared" . _:9a5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.0"; "BTNT (broader term maps to a narrower term)"@en . _:9a5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.0"; "Specific code (The term has its own code in the ICD10)"@en . _:9a60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.1"; "BTNT (broader term maps to a narrower term)"@en . _:9a61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.1"; "Specific code (The term has its own code in the ICD10)"@en . _:9a62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.2"; "BTNT (broader term maps to a narrower term)"@en . _:9a63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.2"; "Specific code (The term has its own code in the ICD10)"@en . _:9a64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.8"; "BTNT (broader term maps to a narrower term)"@en . _:9a65d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12677; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12677 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.8"; "Specific code (The term has its own code in the ICD10)"@en . _:9a66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.9"; "BTNT (broader term maps to a narrower term)"@en . _:9a6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D83.9"; "Specific code (The term has its own code in the ICD10)"@en . _:9a6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D83"; "DOID:12177" . _:9a6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D83.0"; "ORDO:1572/btnt", "ORDO:1572/specific", "Orphanet:1572" . _:9a72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D83.1"; "ORDO:1572/btnt", "ORDO:1572/specific", "Orphanet:1572" . _:9a74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D83.2"; "ORDO:1572/btnt", "ORDO:1572/specific", "Orphanet:1572" . _:9a76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D83.8"; "ORDO:1572/btnt", "ORDO:1572/specific", "Orphanet:1572" . _:9a79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D83.9"; "DOID:12177", "ORDO:1572/btnt", "ORDO:1572/specific", "Orphanet:1572" . _:9a7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.06"; "DOID:12177", "MONDO:equivalentTo", "i2s" . _:9a7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017074"; "DOID:12177", "MONDO:equivalentTo", "ORDO:1572/e", "Orphanet:1572" . _:9a7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017074"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9a81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021449"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9a82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021449"; "ORDO:1572/e", "Orphanet:1572" . _:9a85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26725"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.78/0.34" . _:9a86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146830"; "BTNT (broader term maps to a narrower term)"@en . _:9a87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:240500"; "BTNT (broader term maps to a narrower term)"@en . _:9a89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607594"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9a8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613493"; "BTNT (broader term maps to a narrower term)"@en . _:9a8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613494"; "BTNT (broader term maps to a narrower term)"@en . _:9a90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613495"; "BTNT (broader term maps to a narrower term)"@en . _:9a92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613496"; "BTNT (broader term maps to a narrower term)"@en . _:9a93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614699"; "BTNT (broader term maps to a narrower term)"@en . _:9a95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615577"; "BTNT (broader term maps to a narrower term)"@en . _:9a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616576"; "BTNT (broader term maps to a narrower term)"@en . _:9a98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616576"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9a99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:607594"; "MONDO:cjm", "MONDO:equivalentTo" . _:9a9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:23238000"; "DOID:12177", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.75/0.49" . _:9a9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0009447"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9aa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0009447"; "DOID:12177", "MONDO:equivalentTo", "NCIT:C26725", "ORDO:1572/e", "Orphanet:1572" . _:9aa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CVID"; "DOID:12177", "Orphanet:1572" . _:9aa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "common variable agammaglobulinemia"; "DOID:12177" . _:9aabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "common variable immunodeficiency"; rdfs:comment "preferred label from MONDO" . _:9aadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic immunoglobulin deficiency"; "Orphanet:1572" . _:9ab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary antibody deficiency"; "Orphanet:1572" . _:9ab2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hypogammaglobulinemia"; "Orphanet:1572" . _:9ab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary hypogammaglobulinemia"; "NCIT:C26725" . _:9ab4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sporadic hypogammaglobulinemia"; "DOID:12177", "MTHICD9_2006:279.06" . _:9ab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Immunoglobulin deficiency, late-onset"; "GARD:0006140" . _:9ab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acquired agammaglobulinemia"; "DOID:12177", "NCIT:C26725" . _:9abbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acquired hypogammaglobulinemia"; "DOID:12177" . _:9abcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "common variable hypogamma-globulinemia"; "GARD:0006140" . _:9abdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "common variable immune deficiency"; "GARD:0006140" . _:9abed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogamma-globulinemia, acquired"; "GARD:0006140" . _:9ac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1572" . a owl:Class; rdfs:subClassOf , , ; "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia."; ; , , , , , , ; "HHRH"@en; "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia."@en; "orphanet", "orphanet"@en; "DOID:0050947", "ICD-10:E83.3", "ICD10:E83.3", "MESH:C562793", "MONDO:0009431", "NCIT:C131450", "OMIM:241530", "SCTID:237891005", "UMLS:C1853271"; "HHRH", "hereditary hypophosphatemic rickets with hypercalciuria", "hypercalciuric hypophosphatemic rickets", "hypophosphatemic hypercalciuric rickets"; "hypercalciuric rickets", "hypophosphatemic rickets with hypercalciuria, hereditary", "hypophosphatemic rickets with hypercalciuria, hereditary; HHRH"; "Orphanet:157215"; ; rdfs:label "Hereditary hypophosphatemic rickets with hypercalciuria", "Hereditary hypophosphatemic rickets with hypercalciuria"@en; "ORPHA:157215" . _:9ac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia."; "Orphanet:157215" . _:9ac5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050947"; "MONDO:equivalentTo" . _:9ac6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12725; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12725 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "Attributed"@en . _:9ac7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "NTBT (narrower term maps to a broader term)"@en . _:9ac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.3"; "MONDO:relatedTo", "ORDO:157215/attributed", "ORDO:157215/ntbt", "Orphanet:157215" . _:9acad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562793"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9accd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131450"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:9acdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:241530"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9aced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:241530"; "DOID:0050947", "MONDO:equivalentTo", "ORDO:157215/e", "Orphanet:157215" . _:9ad0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237891005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.06" . _:9ad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853271"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9ad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853271"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C131450", "Orphanet:157215" . _:9ad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHRH"; "MONDO:Lexical", "OMIM:241530", "Orphanet:157215" . _:9ad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hypophosphatemic rickets with hypercalciuria"; rdfs:comment "preferred label from MONDO" . _:9ad9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalciuric hypophosphatemic rickets"; "NCIT:C131450" . _:9adad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic hypercalciuric rickets"; "NCIT:C131450" . _:9adcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalciuric rickets"; "OMIM:241530" . _:9addd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets with hypercalciuria, hereditary"; "MONDO:Lexical", "OMIM:241530" . _:9aded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets with hypercalciuria, hereditary; HHRH"; "OMIM:241530" . _:9adfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:157215" . a owl:Class; rdfs:subClassOf , ; "Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner."; ; , , , ; "Hyperphenylalaninemia due to dehydratase deficiency"@en, "Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency"@en, "Hyperphenylalaninemia with primapterinuria"@en; "Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner."@en; "orphanet", "orphanet"@en; "GARD:0002843", "ICD-10:E70.1", "ICD10:E70.1", "ICD9:277.6", "MESH:C538382", "MONDO:0009908", "OMIM:264070", "SCTID:124646004", "UMLS:C1849700"; "CADH deficiency", "Hyperphenylalaninemia due to dehydratase deficiency", "Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency", "Hyperphenylalaninemia with primapterinuria", "PCBD deficiency", "dehydratase deficiency", "hyperphenylalaninemia due to dehydratase deficiency", "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency", "hyperphenylalaninemia with primapterinuria", "hyperphenylalaninemia, Bh4-deficient, type D"; "HPABH4D", "hyperphenylalaninemia, BH4-deficient, D", "hyperphenylalaninemia, BH4-deficient, D; HPABH4D", "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency", "pterin-4 alpha-carbinolamine dehydratase deficiency", "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency"; "Orphanet:1578"; ; rdfs:label "Dehydratase deficiency", "Pterin-4 alpha-carbinolamine dehydratase deficiency"@en; "ORPHA:1578" . _:9aead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner."; "Orphanet:1578" . _:9aebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002843"; "MONDO:equivalentTo", "Orphanet-shared" . _:9aedd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12746; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12746 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "Attributed"@en . _:9af1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "NTBT (narrower term maps to a broader term)"@en . _:9af3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.1"; "ORDO:1578/attributed", "ORDO:1578/ntbt", "Orphanet:1578" . _:9af5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.6"; "MONDO:relatedTo", "i2s" . _:9af6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538382"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9afad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264070"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9afbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264070"; "MONDO:equivalentTo", "ORDO:1578/e", "Orphanet:1578" . _:9afcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124646004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.37/0.53" . _:9afed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CADH deficiency"; "OMIM:264070", "Orphanet:1578" . _:9b02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCBD deficiency"; "OMIM:264070", "Orphanet:1578" . _:9b03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dehydratase deficiency"; rdfs:comment "preferred label from MONDO" . _:9b04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to dehydratase deficiency"; "Orphanet:1578" . _:9b05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency"; "Orphanet:1578" . _:9b07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia with primapterinuria"; "OMIM:264070", "Orphanet:1578" . _:9b09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, Bh4-deficient, type D"; "MONDORULE:1", "OMIM:264070" . _:9b0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPABH4D"; "MONDO:Lexical", "OMIM:264070" . _:9b0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, D"; "MONDO:Lexical", "OMIM:264070" . _:9b0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, D; HPABH4D"; "OMIM:264070" . _:9b0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency"; "OMIM:264070" . _:9b10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pterin-4 alpha-carbinolamine dehydratase deficiency"; "Orphanet:1578" . _:9b11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency"; "GARD:0002843" . _:9b14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1578" . a owl:Class; rdfs:subClassOf , ; "ICD-10:D76.3", "MeSH:D015616", "UMLS:C0019624"; rdfs:label "Non-Langerhans cell histiocytosis"@en; "ORPHA:157987" . _:9b16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D76.3"; "NTBT (narrower term maps to a broader term)"@en . _:9b17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015616"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019624"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma."; ; , , , , , , ; "CDSP"@en, "CUD"@en, "Carnitine transporter defect"@en, "Carnitine uptake deficiency"@en, "Deficiency of plasma-membrane carnitine transporter"@en, "SPCD"@en; "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma."@en; "orphanet", "orphanet"@en; "DOID:14365", "GARD:0005104", "ICD-10:E71.3", "ICD10:E71.3", "ICD10:E71.41", "ICD10:E71.42", "ICD9:277.81", "ICD9:277.82", "MESH:C536778", "MONDO:0008919", "NCIT:C98864", "OMIM:212140", "SCTID:21764004", "UMLS:C0342788"; "CDSP", "CUD", "Carnitine deficiency", "Carnitine transporter defect", "Carnitine uptake deficiency", "Deficiency of plasma-membrane carnitine transporter", "PCD", "Primary systemic carnitine deficiency", "SPCD", "carnitine transporter deficiency", "carnitine uptake defect", "cud", "deficiency of plasma-membrane carnitine transporter", "primary carnitine deficiency", "renal carnitine transport defect", "systemic primary carnitine deficiency disease"; "CARNITINE deficiency, systemic primary", "CARNITINE deficiency, systemic primary; CDSP", "Carnitine deficiency, primary", "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine", "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine", "Carnitine plasma-membrane transporter deficiency", "Carnitine transporter, plasma-Membrane, deficiency of", "Carnitine uptake defect", "systemic Carnitine deficiency", "systemic primary carnitine deficiency"; "Orphanet:158"; ; rdfs:label "Systemic primary carnitine deficiency", "Systemic primary carnitine deficiency"@en; "ORPHA:158" . _:9b1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma."; "Orphanet:158" . _:9b1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14365"; "MONDO:equivalentTo" . _:9b1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005104"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:9b1fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12776; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12776 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "Attributed"@en . _:9b22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "NTBT (narrower term maps to a broader term)"@en . _:9b24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:158/attributed", "ORDO:158/ntbt", "Orphanet:158" . _:9b28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.41"; "DOID:14365" . _:9b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.42"; "DOID:14365" . _:9b2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.81"; "DOID:14365" . _:9b2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.82"; "DOID:14365" . _:9b2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536778"; "DOID:14365", "MONDO:equivalentTo", "MONDO:ontobio" . _:9b2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98864"; "DOID:14365", "MONDO:equivalentTo" . _:9b31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:212140"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:212140"; "DOID:14365", "MONDO:equivalentTo", "ORDO:158/e", "Orphanet:158" . _:9b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:21764004"; "DOID:14365", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.44" . _:9b38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342788"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342788"; "DOID:14365", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:212140", "Orphanet:158" . _:9b40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDSP"; "MONDO:Lexical", "OMIM:212140", "Orphanet:158" . _:9b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine deficiency"; "NCIT:C98864" . _:9b46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine transporter defect"; "Orphanet:158" . _:9b49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine uptake deficiency"; "Orphanet:158" . _:9b4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPCD"; "Orphanet:158" . _:9b4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carnitine transporter deficiency"; "DOID:14365" . _:9b4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carnitine uptake defect"; "DOID:14365" . _:9b4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cud"; "Orphanet:158" . _:9b4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of plasma-membrane carnitine transporter"; "DOID:14365", "Orphanet:158" . _:9b51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary carnitine deficiency"; "DOID:14365", "ICD9CM_2006:277.81" . _:9b53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal carnitine transport defect"; "DOID:14365" . _:9b54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "systemic primary carnitine deficiency disease"; rdfs:comment "preferred label from MONDO" . _:9b55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARNITINE deficiency, systemic primary"; "MONDO:Lexical", "OMIM:212140" . _:9b56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARNITINE deficiency, systemic primary; CDSP"; "OMIM:212140" . _:9b59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine deficiency, primary"; "OMIM:212140" . _:9b5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine"; "OMIM:212140" . _:9b5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine"; "GARD:0005104" . _:9b5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine plasma-membrane transporter deficiency"; "GARD:0005104" . _:9b5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine transporter, plasma-Membrane, deficiency of"; "OMIM:212140" . _:9b60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnitine uptake defect"; "OMIM:212140" . _:9b61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "systemic Carnitine deficiency"; "OMIM:212140" . _:9b64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "systemic primary carnitine deficiency"; "Orphanet:158" . _:9b66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:158" . a owl:Class; rdfs:subClassOf ; "Destombes-Rosaï-Dorfman disease"@en, "Rosaï-Dorfman-Destombes disease"@en, "SHML"@en, "Sinus histiocytosis with massive lymphadenopathy"@en; "Rosaï-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia."@en; "orphanet"@en; "ICD-10:D76.3", "MedDRA:10063397", "OMIM:602782"; rdfs:label "Rosaï-Dorfman disease"@en; "ORPHA:158014" . _:9b6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D76.3"; "NTBT (narrower term maps to a broader term)"@en . _:9b6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063397"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602782"; "W (incorrect mapping (two different concepts)"@en . a owl:Class; rdfs:subClassOf ; "HLH"@en, "Hemophagocytic lymphohistiocytosis"@en; "Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes)."@en; "orphanet"@en; "MedDRA:10058125", "UMLS:C0024291", "UMLS:C3887558"; rdfs:label "Hemophagocytic syndrome"@en; "ORPHA:158032" . _:9b89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058125"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024291"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3887558"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Genetic hemophagocytic lymphohistiocytosis."; , , ; "Genetic hemophagocytic lymphohistiocytosis"@en; "ICD9:238.79", "MONDO:0015541", "MedDRA:10070904", "OMIMPS:267700", "SCTID:398250003", "UMLS:C0272199"; "Genetic hemophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis", "genetic hemophagocytic lymphohistiocytosis", "genetic hemophagocytic syndrome", "primary hemophagocytic lymphohistiocytosis"; "Orphanet:158038"; ; rdfs:label "Primary hemophagocytic lymphohistiocytosis", "Primary hemophagocytic lymphohistiocytosis"@en; "ORPHA:158038" . _:9b8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:238.79"; "MONDO:relatedTo", "i2s" . _:9b8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070904"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070904"; "ORDO:158038/e", "Orphanet:158038" . _:9b93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:267700"; "MONDO:cjm", "MONDO:equivalentTo" . _:9b94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:398250003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.84/0.60/0.50" . _:9b95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0272199"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9b98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hemophagocytic lymphohistiocytosis"; "MONDO:cjm" . _:9b9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hemophagocytic lymphohistiocytosis"; "Orphanet:158038" . _:9b9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hemophagocytic lymphohistiocytosis"; rdfs:comment "preferred label from MONDO" . _:9ba1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hemophagocytic syndrome"; "MONDO:patterns/genetic" . _:9ba3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hemophagocytic lymphohistiocytosis"; "Orphanet:158038" . _:9ba7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:158038" . a owl:Class; rdfs:subClassOf , ; "Genetic dementia."; ; "MONDO:0015547"; "genetic dementia"; "Orphanet:158124"; ; rdfs:label "Genetic dementia", "Genetic dementia"@en; "ORPHA:158124" . _:9ba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic dementia"; "MONDO:patterns/genetic" . _:9baad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic dementia"; rdfs:comment "preferred label from MONDO" . _:9bacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:158124" . a owl:Class; rdfs:subClassOf , , ; , , , ; "Huntington disease phenocopy syndrome"@en; "ICD9:333.99", "MESH:C580174", "MONDO:0015548", "SCTID:702376003", "UMLS:C3711380"; "Huntington disease phenocopy syndrome", "Huntington disease-like syndrome", "Huntington's disease phenocopy syndrome", "Huntington's disease-like syndrome"; "Orphanet:158266"; ; rdfs:label "Huntington disease-like syndrome", "Huntington disease-like syndrome"@en; "ORPHA:158266" . _:9bb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.99"; "MONDO:relatedTo", "i2s" . _:9bb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580174"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9bb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:702376003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.64" . _:9bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3711380"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3711380"; "MONDO:equivalentTo", "Orphanet:158266" . _:9bbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington disease phenocopy syndrome"; "Orphanet:158266" . _:9bc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington disease-like syndrome"; rdfs:comment "preferred label from MONDO" . _:9bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:158266" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic hematologic disease", "Rare genetic hematologic disease"@en; "ORPHA:158300" . a owl:Class; rdfs:subClassOf ; "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes."; , , ; "ICD10:Q81.0", "MONDO:0015551", "OMIM:617294", "SCTID:723163000", "UMLS:C4302031"; "basal epidermolysis bullosa simplex", "epidermolysis bullosa simplex of stratum basale of epidermis", "stratum basale of epidermis epidermolysis bullosa simplex"; "Orphanet:158665"; ; rdfs:label "Basal epidermolysis bullosa simplex" . _:9bc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes."; "MONDO:cjm", "https://www.ncbi.nlm.nih.gov/books/NBK1369/" . _:9bc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.0"; "MONDO:subClassOf", "ORDO:158665/attributed", "ORDO:158665/ntbt", "Orphanet:158665" . _:9bcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:723163000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:9bccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4302031"; "MONDO:equivalentTo" . _:9bcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "basal epidermolysis bullosa simplex"; rdfs:comment "preferred label from MONDO" . _:9bced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa simplex of stratum basale of epidermis"; "MONDO:design_pattern" . _:9bcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "stratum basale of epidermis epidermolysis bullosa simplex"; "MONDO:patterns/location" . _:9bd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:158665" . a owl:Class; rdfs:subClassOf , , ; "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)."; ; , , , , , , , , ; "Atypical X-linked achromatopsia"@en, "Blue cone monochromacy"@en, "Color blindness, blue monocone monochromatic type"@en, "S cone monochromacy"@en, "S cone monochromatism"@en, "X-linked incomplete achromatopsia"@en; "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)."@en; "orphanet", "orphanet"@en; "DOID:0050679", "GARD:0000917", "ICD-10:H53.5", "ICD10:H53.5", "MESH:C536238", "MONDO:0010563", "MSH:C536238", "MSH:C538165", "MeSH:C536238", "MeSH:C538165", "OMIM:303700", "SCTID:24704003", "UMLS:C0339537", "UMLS:C2931753", "UMLS:CN036572"; "Atypical X-linked achromatopsia", "Blue cone monochromacy", "Color blindness, blue monocone monochromatic type", "Colour blindness, blue monocone monochromatic type", "S cone monochromacy", "S cone monochromatism", "X-linked incomplete achromatopsia", "atypical X-linked achromatopsia", "blue cone monochromacy", "blue cone monochromatism", "color blindness, blue monocone monochromatic type"; "BCM", "CBBM", "X-chromosome-linked achromatopsia", "X-linked achromatopsia incomplete", "achromatopsia incomplete X-linked", "blue cone monochromacy; BCM", "color blindness blue mono cone monochromatic type", "colorblindness, blue-Mono-cone-monochromatic type", "cone dystrophy 5, X-linked", "incomplete achromatopsia X-linked"; "Orphanet:16"; , ; rdfs:label "Blue cone monochromatism", "Blue cone monochromatism"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism"^^xsd:anyURI; "ORPHA:16" . _:9bdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)."; "Orphanet:16" . _:9bddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050679"; "MONDO:equivalentTo" . _:9bded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000917"; "MONDO:equivalentTo" . _:9be0d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12854; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12854 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H53.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:9be2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H53.5"; "NTBT (narrower term maps to a broader term)"@en . _:9be4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H53.5"; "ORDO:16/inclusion", "ORDO:16/ntbt", "Orphanet:16" . _:9be6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536238"; "MONDO:equivalentTo", "ORDO:16/e", "Orphanet:16" . _:9be8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536238"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9bead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538165"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9becd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:303700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9bedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:303700"; "GARD:0000917", "MONDO:equivalentTo", "ORDO:16/e", "Orphanet:16" . _:9beed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:24704003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/7.03" . _:9befd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339537"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9bf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931753"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9bf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN036572"; "MONDO:equivalentTo" . _:9bf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "S cone monochromacy"; "Orphanet:16" . _:9bf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "S cone monochromatism"; "Orphanet:16" . _:9bf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked incomplete achromatopsia"; "Orphanet:16" . _:9bf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical X-linked achromatopsia"; "Orphanet:16" . _:9bfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blue cone monochromacy"; "MONDO:Lexical", "OMIM:303700", "Orphanet:16" . _:9bfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blue cone monochromacy"; rdfs:comment "preferred label from MONDO" . _:9bfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blue cone monochromatism"; "MONDO:0015563", "OMIM:303700" . _:9bfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "color blindness, blue monocone monochromatic type"; "Orphanet:16" . _:9c00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCM"; "GARD:0000917", "MONDO:Lexical", "OMIM:303700" . _:9c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBBM"; "GARD:0000917" . _:9c02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-chromosome-linked achromatopsia"; "GARD:0000917" . _:9c05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked achromatopsia incomplete"; "GARD:0000917" . _:9c07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achromatopsia incomplete X-linked"; "GARD:0000917" . _:9c0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blue cone monochromacy; BCM"; "OMIM:303700" . _:9c0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "color blindness blue mono cone monochromatic type"; "GARD:0000917" . _:9c0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorblindness, blue-Mono-cone-monochromatic type"; "OMIM:303700" . _:9c0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cone dystrophy 5, X-linked"; "OMIM:303700" . _:9c10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "incomplete achromatopsia X-linked"; "GARD:0000917" . _:9c12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:16" . _:9c13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism"^^xsd:anyURI; "GARD:0000917" . a owl:Class; rdfs:subClassOf ; "Angiofollicular ganglionic hyperplasia"@en, "Angiofollicular lymph hyperplasia"@en; "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form (see these terms). The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms."@en; "orphanet"@en; "ICD-10:D47.4", "MeSH:C536362", "MeSH:D005871", "MedDRA:10050251", "OMIM:148000", "UMLS:C0017531", "UMLS:C2931179"; rdfs:label "Castleman disease"@en; "ORPHA:160" . _:9c17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.4"; "NTBT (narrower term maps to a broader term)"@en . _:9c18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536362"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D005871"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050251"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:148000"; "BTNT (broader term maps to a narrower term)"@en . _:9c1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017531"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931179"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; , , , ; "LPP"@en, "Localized pustular psoriasis"@en, "PPP"@en, "Palmoplantar pustulosis"@en; "GARD:0012820", "ICD-10:L40.3", "ICD10:L40.3", "ICD9:696.1", "MONDO:0015597", "MedDRA:10050185", "SCTID:81271001", "UMLS:C0030246"; "LPP", "Localized pustular psoriasis", "Lpp", "PPP", "Palmoplantar pustulosis", "localized pustular psoriasis", "palmoplantar pustulosis", "pustulosis palmaris et plantaris"; "Orphanet:163927"; ; rdfs:label "Pustulosis palmaris et plantaris", "Pustulosis palmaris et plantaris"@en; "ORPHA:163927" . _:9c29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012820"; "MONDO:equivalentTo", "Orphanet-shared" . _:9c2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L40.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c2bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12896; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12896 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L40.3"; "Specific code (The term has its own code in the ICD10)"@en . _:9c2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L40.3"; "MONDO:equivalentTo", "ORDO:163927/e", "ORDO:163927/specific", "Orphanet:163927" . _:9c2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:696.1"; "MONDO:relatedTo", "i2s" . _:9c2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050185"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050185"; "ORDO:163927/e", "Orphanet:163927" . _:9c32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:81271001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.24" . _:9c34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030246"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lpp"; "Orphanet:163927" . _:9c37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPP"; "Orphanet:163927" . _:9c39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "localized pustular psoriasis"; "Orphanet:163927" . _:9c3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palmoplantar pustulosis"; "Orphanet:163927" . _:9c3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pustulosis palmaris et plantaris"; rdfs:comment "preferred label from MONDO" . _:9c3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:163927" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015603", "UMLS:CN226712"; "rare odontal or periodontal disorder"; "Orphanet:164001"; , ; rdfs:label "Rare odontal or periodontal disorder"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:9c42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226712"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9c43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare odontal or periodontal disorder"; rdfs:comment "preferred label from MONDO" . _:9c44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:164001" . a owl:Class; rdfs:subClassOf , , , ; "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations.", "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations."; ; , , , , ; "Delleman syndrome"@en, "Delleman-Oorthuys syndrome"@en, "Leichtman-Wood-Rohn syndrome"@en, "OCCS"@en, "Orbital cyst with cerebral and focal dermal malformations"@en; "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations."@en; "orphanet", "orphanet"@en; "GARD:0000106", "ICD-10:Q87.8", "ICD10:Q87.8", "ICD9:759.89", "MESH:C538088", "MONDO:0008108", "MSH:C538088", "MeSH:C538088", "OMIM:164180", "SCTID:403554008", "UMLS:C0796092", "UMLS:C2931390"; "Delleman syndrome", "Delleman-Oorthuys syndrome", "Leichtman-Wood-Rohn syndrome", "OCCS", "Orbital cyst with cerebral and focal dermal malformations", "oculocerebrocutaneous syndrome", "orbital cyst with cerebral and focal dermal malformations"; "Delleman Oorthuys syndrome", "OCC syndrome", "oculo-cerebro-cutaneous syndrome"; "Orphanet:1647"; , ; rdfs:label "Oculocerebrocutaneous syndrome", "Oculocerebrocutaneous syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome"^^xsd:anyURI; "ORPHA:1647" . _:9c4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations."; "Orphanet:1647" . _:9c4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000106"; "MONDO:equivalentTo" . _:9c4dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12915; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12915 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:9c4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:9c4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:1647/attributed", "ORDO:1647/ntbt", "Orphanet:1647" . _:9c50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:9c51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538088"; "MONDO:equivalentTo", "ORDO:1647/e", "Orphanet:1647" . _:9c53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538088"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:164180"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:164180"; "GARD:0000106", "MONDO:equivalentTo", "ORDO:1647/e", "Orphanet:1647" . _:9c59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:403554008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/7.19" . _:9c5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796092"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796092"; "GARD:0000106", "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:164180", "ORDO:1647/e", "Orphanet:1647" . _:9c5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931390"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9c60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Delleman syndrome"; "Orphanet:1647" . _:9c62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Delleman-Oorthuys syndrome"; "Orphanet:1647" . _:9c66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leichtman-Wood-Rohn syndrome"; "Orphanet:1647" . _:9c68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCCS"; "GARD:0000106", "OMIM:164180", "Orphanet:1647" . _:9c69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculocerebrocutaneous syndrome"; "OMIM:164180" . _:9c6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculocerebrocutaneous syndrome"; rdfs:comment "preferred label from MONDO" . _:9c6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orbital cyst with cerebral and focal dermal malformations"; "GARD:0000106", "OMIM:164180", "Orphanet:1647" . _:9c6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Delleman Oorthuys syndrome"; "GARD:0000106" . _:9c72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCC syndrome"; "GARD:0000106" . _:9c74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculo-cerebro-cutaneous syndrome"; "GARD:0000106" . _:9c75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1647" . _:9c76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome"^^xsd:anyURI; "GARD:0000106" . a owl:Class; rdfs:subClassOf , , ; "An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.", "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction."; "Gautier Koscielny"; , ; , , , , , , , , , ; ; "Dent syndrome"@en, "Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis"@en, "Renal Fanconi syndrome with nephrocalcinosis and renal stones"@en, "X-linked recessive hypercalciuric hypophosphatemic rickets"@en, "X-linked recessive nephrolithiasis"@en; "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction."@en; "NCIt:C123260", "orphanet", "orphanet"@en; "DOID:0050699", "GARD:0013105", "ICD-10:N25.8", "ICD10:N25.8", "MESH:D057973", "MONDO:0015612", "MSH:C545036", "MSH:D057973", "MeSH:C545036", "MeSH:D057973", "MedDRA:10069199", "NCIT:C123260", "NCIt:C123260", "OMIM:300009", "OMIM:300554", "OMIM:300555", "OMIM:308990", "OMIM:310468", "OMIMPS:300009", "ORDO:Orphanet_1652", "SCTID:444645005", "UMLS:C0878681", "UMLS:C1839874", "UMLS:CN239269"; "Dent disease", "Dent disease 1", "Dent disease 2", "Dent syndrome", "Dent's disease", "Dents Disease", "Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis", "Renal Fanconi syndrome with nephrocalcinosis and renal stones", "X-Linked Recessive Hypophosphatemic Rickets", "X-linked recessive hypercalciuric hypophosphatemic rickets", "X-linked recessive hypophosphatemic rickets", "X-linked recessive nephrolithiasis", "low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis", "renal Fanconi syndrome with nephrocalcinosis and renal stones"; "Dent disease 1", "Dent disease 2"; "Dents disease"; "Orphanet:1652"; ; rdfs:label "Dent disease", "Dent disease"@en; "ORPHA:1652" . _:9c9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ca0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction."; "Orphanet:1652" . _:9ca2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ca4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C123260" . _:9ca6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C123260"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ca8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050699"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9caad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050699"; "MONDO:equivalentTo" . _:9cacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013105"; "MONDO:equivalentTo", "Orphanet-shared" . _:9caed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid12948; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid12948 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.8"; "Attributed"@en . _:9cafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.8"; "NTBT (narrower term maps to a broader term)"@en . _:9cb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25.8"; "ORDO:1652/attributed", "ORDO:1652/ntbt", "Orphanet:1652" . _:9cb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D057973"; "DOID:0050699", "MONDO:equivalentTo", "ORDO:1652/e", "Orphanet:1652" . _:9cb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D057973"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9cb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C545036"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9cb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D057973"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9cb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069199"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9cbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069199"; "ORDO:1652/e", "Orphanet:1652" . _:9cbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123260"; "DOID:0050699", "MONDO:equivalentTo", "MONDO:kboom-pr-0.86/0.69/0.33" . _:9cbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C123260"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9cc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300009"; "BTNT (broader term maps to a narrower term)"@en . _:9cc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300554"; "BTNT (broader term maps to a narrower term)"@en . _:9cc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300555"; "BTNT (broader term maps to a narrower term)"@en . _:9cc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308990"; "BTNT (broader term maps to a narrower term)"@en . _:9ccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:310468"; "BTNT (broader term maps to a narrower term)"@en . _:9ccdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:300009"; "MONDO:cjm", "MONDO:equivalentTo" . _:9ccfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORDO:Orphanet_1652"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9cd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:444645005"; "DOID:0050699", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:9cd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0878681"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9cd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0878681"; "DOID:0050699", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:1652/e", "Orphanet:1652" . _:9cd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1839874"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9cd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239269"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:9cdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent disease"; rdfs:comment "preferred label from MONDO" . _:9cdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent disease 1"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9cded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent disease 2"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9cdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent syndrome"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ce0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent syndrome"; "Orphanet:1652" . _:9ce1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent's disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ce2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent's disease"; "DOID:0050699" . _:9ce5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dents Disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-Linked Recessive Hypophosphatemic Rickets"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ce8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked recessive hypercalciuric hypophosphatemic rickets"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked recessive hypercalciuric hypophosphatemic rickets"; "Orphanet:1652" . _:9cebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked recessive hypophosphatemic rickets"; "NCIT:C123260" . _:9cf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked recessive nephrolithiasis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9cf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked recessive nephrolithiasis"; "Orphanet:1652" . _:9cf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis"; "Orphanet:1652" . _:9cfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal Fanconi syndrome with nephrocalcinosis and renal stones"; "Orphanet:1652" . _:9cfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent disease 1"; "DOID:0050699" . _:9cfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dent disease 2"; "DOID:0050699" . _:9cfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dents disease"; "GARD:0013105" . _:9d00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1652" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic gastroenterological disease" . a owl:Class; rdfs:subClassOf , ; "OMIM:300048"; rdfs:label "Genetic intestinal disease" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0015617", "UMLS:CN199993"; "genetic gastro-esophageal disease"; "Orphanet:165658"; ; rdfs:label "Genetic gastro-esophageal disease" . _:9d04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199993"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9d06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic gastro-esophageal disease"; rdfs:comment "preferred label from MONDO" . _:9d12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:165658" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic pancreatic disease" . a owl:Class; rdfs:subClassOf ; rdfs:label "Non-syndromic urogenital tract malformation"@en; "ORPHA:165704" . a owl:Class; rdfs:subClassOf , , ; "A urogenital tract malformation that is part of a larger syndrome."; , ; "MONDO:0015620", "UMLS:CN226715"; "syndrome associated with urogenital tract malformation", "syndromic urogenital tract malformation"; "syndrome associated with urogenital tract malformation"; "Orphanet:165707"; ; rdfs:label "Syndromic urogenital tract malformation" . _:9d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A urogenital tract malformation that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:9d15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226715"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:9d17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with urogenital tract malformation"; "MONDO:patterns/syndromic" . _:9d19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic urogenital tract malformation"; "MONDO:patterns/syndromic" . _:9d1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic urogenital tract malformation"; rdfs:comment "preferred label from MONDO" . _:9d1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with urogenital tract malformation"; "MONDO:patterns/syndromic" . _:9d1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:165707" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare abdominal surgical disease"@en; "ORPHA:165711" . a owl:Class; rdfs:subClassOf ; ; "Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0015624"; "Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form", "diazoxide-sensitive diffuse hyperinsulinism", "hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form"; "Orphanet:165985"; ; rdfs:label "Diazoxide-sensitive diffuse hyperinsulinism", "Diazoxide-sensitive diffuse hyperinsulinism"@en; "ORPHA:165985" . _:9d23d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13002; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:9d26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:9d28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:165985/attributed", "ORDO:165985/ntbt", "Orphanet:165985" . _:9d2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diazoxide-sensitive diffuse hyperinsulinism"; rdfs:comment "preferred label from MONDO" . _:9d2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form"; "Orphanet:165985" . _:9d2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:165985" . a owl:Class; rdfs:subClassOf ; "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy."; ; "Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form"@en; "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy."@en; "orphanet", "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0015625"; "Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form", "diazoxide-resistant diffuse hyperinsulinism", "hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form"; "Orphanet:165988"; ; rdfs:label "Diazoxide-resistant diffuse hyperinsulinism", "Diazoxide-resistant diffuse hyperinsulinism"@en; "ORPHA:165988" . _:9d2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy."; "Orphanet:165988" . _:9d2fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13010; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13010 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:9d32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:9d34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:165988/attributed", "ORDO:165988/ntbt", "Orphanet:165988" . _:9d35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diazoxide-resistant diffuse hyperinsulinism"; rdfs:comment "preferred label from MONDO" . _:9d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form"; "Orphanet:165988" . _:9d37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:165988" . a owl:Class; rdfs:subClassOf , , , ; "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.", "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells."; , , , , , , , ; "EIHI"@en, "Exercise-induced hyperinsulinemic hypoglycemia"@en, "Hyperinsulinism due to SLC16A1 deficiency"@en, "Hyperinsulinism due to monocarboxylate transporter 1 deficiency"@en; "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells."@en; "orphanet", "orphanet"@en; "DOID:0070214", "GARD:0009932", "ICD-10:E16.1", "ICD10:E16.1", "MESH:C538376", "MONDO:0012396", "NCIT:C131839", "OMIM:610021", "OMIM:616095", "SCTID:715830008", "UMLS:C1864902", "UMLS:C1864904"; "EIHI", "Exercise-induced hyperinsulinemic hypoglycemia", "Hyperinsulinism due to SLC16A1 deficiency", "Hyperinsulinism due to monocarboxylate transporter 1 deficiency", "MCT1 hyperinsulinism", "exercise-induced hyperinsulinemic hypoglycemia", "exercise-induced hyperinsulinism", "hyperinsulinemic hypoglycemia, familial, type 7", "hyperinsulinism due to SLC16A1 deficiency", "hyperinsulinism due to monocarboxylate transporter 1 deficiency", "monocarboxylate transporter 1 hyperinsulinism"; "HHF7", "exercise induced hyperinsulinemic hypoglycemia", "hyperinsulinemic hypoglycemia exercise-induced", "hyperinsulinemic hypoglycemia familial 7", "hyperinsulinemic hypoglycemia, exercise-induced", "hyperinsulinemic hypoglycemia, familial, 7", "hyperinsulinemic hypoglycemia, familial, 7; HHF7"; "Orphanet:165991"; ; rdfs:label "Exercise-induced hyperinsulinism", "Exercise-induced hyperinsulinism"@en; "ORPHA:165991" . _:9d47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells."; "Orphanet:165991" . _:9d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070214"; "MONDO:equivalentTo" . _:9d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009932"; "MONDO:equivalentTo", "OMIM-shared" . _:9d4cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13020; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13020 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:9d50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:9d52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:165991/attributed", "ORDO:165991/ntbt", "Orphanet:165991" . _:9d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538376"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9d57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131839"; "MONDO:equivalentTo" . _:9d59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610021"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9d5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610021"; "MONDO:equivalentTo", "ORDO:165991/e", "Orphanet:165991" . _:9d5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616095"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715830008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:9d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864902"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9d62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864902"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:610021", "Orphanet:165991" . _:9d6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864904"; "MEDGEN:kboom-pr96-c96", "MONDO:equivalentTo" . _:9d6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EIHI"; "Orphanet:165991" . _:9d6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCT1 hyperinsulinism"; "NCIT:C131839" . _:9d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exercise-induced hyperinsulinemic hypoglycemia"; "Orphanet:165991" . _:9d6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exercise-induced hyperinsulinism"; rdfs:comment "preferred label from MONDO" . _:9d6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, type 7"; "MONDORULE:1", "OMIM:610021" . _:9d73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to SLC16A1 deficiency"; "Orphanet:165991" . _:9d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to monocarboxylate transporter 1 deficiency"; "Orphanet:165991" . _:9d79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monocarboxylate transporter 1 hyperinsulinism"; "NCIT:C131839" . _:9d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHF7"; "MONDO:Lexical", "OMIM:610021" . _:9d7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exercise induced hyperinsulinemic hypoglycemia"; "GARD:0009932" . _:9d7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia exercise-induced"; "GARD:0009932" . _:9d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia familial 7"; "GARD:0009932" . _:9d82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, exercise-induced"; "OMIM:610021" . _:9d89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 7"; "MONDO:Lexical", "OMIM:610021" . _:9d8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 7; HHF7"; "OMIM:610021" . _:9d8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:165991" . a owl:Class; rdfs:subClassOf , , ; "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema."; , , , ; "PRTH"@en, "Selective pituitary resistance to thyroid hormone"@en; "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema."@en; "orphanet"@en; "ICD-10:E05.8", "ICD10:E05.8", "MESH:C564154", "MONDO:0007784", "OMIM:145650", "UMLS:C1840364"; "PRTH", "selective pituitary resistance to thyroid hormone"; "hyperthyroidism, familial, due to inappropriate thyrotropin secretion", "pituitary resistance to thyroid hormone", "thyroid hormone resistance, selective pituitary", "thyroid hormone resistance, selective pituitary; PRTH"; "Orphanet:165994"; ; rdfs:label "Pituitary resistance to thyroid hormone"@en, "Selective pituitary resistance to thyroid hormone"; "ORPHA:165994" . _:9d91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema."; "Orphanet:165994" . _:9d92d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13050; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13050 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E05.8"; "Attributed"@en . _:9d93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E05.8"; "NTBT (narrower term maps to a broader term)"@en . _:9d94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E05.8"; "ORDO:165994/attributed", "ORDO:165994/ntbt", "Orphanet:165994" . _:9d96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564154"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9da0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9da1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145650"; "MONDO:equivalentTo", "ORDO:165994/e", "Orphanet:165994" . _:9da2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1840364"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9da3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1840364"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:145650", "Orphanet:165994" . _:9da5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRTH"; "MONDO:Lexical", "OMIM:145650", "PMID:8475937" . _:9da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective pituitary resistance to thyroid hormone"; rdfs:comment "preferred label from MONDO" . _:9da8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperthyroidism, familial, due to inappropriate thyrotropin secretion"; "OMIM:145650" . _:9da9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary resistance to thyroid hormone"; "Orphanet:165994" . _:9dacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid hormone resistance, selective pituitary"; "MONDO:Lexical", "OMIM:145650" . _:9db2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid hormone resistance, selective pituitary; PRTH"; "OMIM:145650" . _:9db3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:165994" . a owl:Class; rdfs:subClassOf , ; "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs."; , , , ; , , , , , ; "CMT/HMSN"@en, "Charcot-Marie-Tooth hereditary neuropathy"@en; "DOID:10595", "GARD:0006034", "ICD-10:G60.0", "ICD10:G60.0", "ICD9:356.1", "MESH:D002607", "MONDO:0015626", "MSH:D002607", "MeSH:D002607", "MedDRA:10034699", "NCIT:C75467", "OMIM:608895", "OMIM:616155", "OMIM:616233", "OMIMPS:118220", "UMLS:C0007959"; "CMT", "CMT - Charcot-Marie-Tooth disease", "CMT/HMSN", "Charcot Marie Tooth muscular atrophy", "Charcot-Marie-Tooth disease", "Charcot-Marie-Tooth hereditary neuropathy", "hereditary motor and sensory neuropathy", "hereditary sensorimotor neuropathy", "peroneal muscular atrophy"; "Charcot Marie Tooth disease", "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy"; "Orphanet:166"; ; rdfs:label "Charcot-Marie-Tooth disease", "Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy"@en; "ORPHA:166" . _:9db9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs."; "NCIT:C75467" . _:9dbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10595"; "MONDO:equivalentTo" . _:9dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006034"; "MONDO:equivalentTo", "Orphanet-shared" . _:9dbfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13069; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13069 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G60.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:9dc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G60.0"; "NTBT (narrower term maps to a broader term)"@en . _:9dc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G60.0"; "DOID:10595", "ORDO:166/inclusion", "ORDO:166/ntbt", "Orphanet:166" . _:9dc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:356.1"; "DOID:10595" . _:9dc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002607"; "DOID:10595", "MONDO:equivalentTo", "ORDO:166/e", "Orphanet:166" . _:9dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002607"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9dc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034699"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034699"; "ORDO:166/e", "Orphanet:166" . _:9dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75467"; "DOID:10595", "MONDO:equivalentTo" . _:9dcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608895"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9dccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616155"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9dced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616233"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9dd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:118220"; "DOID:10595", "MONDO:equivalentTo" . _:9dd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007959"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9df0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007959"; "DOID:10595", "MONDO:equivalentTo", "NCIT:C75467", "ORDO:166/e", "Orphanet:166" . _:9df4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMT"; "Orphanet:166" . _:9df6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMT - Charcot-Marie-Tooth disease"; "DOID:10595" . _:9df8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMT/HMSN"; "Orphanet:166" . _:9dfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Charcot Marie Tooth muscular atrophy"; "CSP2005:2042-7637", "DOID:10595" . _:9dfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Charcot-Marie-Tooth disease"; "NCIT:C75467" . _:9dffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Charcot-Marie-Tooth disease"; rdfs:comment "preferred label from MONDO" . _:9e01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Charcot-Marie-Tooth hereditary neuropathy"; "Orphanet:166" . _:9e04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary motor and sensory neuropathy"; "NCIT:C75467" . _:9e05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary sensorimotor neuropathy"; "NCIT:C75467" . _:9e07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroneal muscular atrophy"; "DOID:10595", "ICD9CM_2006:356.1" . _:9e09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Charcot Marie Tooth disease"; "GARD:0006034" . _:9e0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy"; "Orphanet:166" . _:9e0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0015642"; "benign partial infantile seizures"; "Orphanet:166311"; ; rdfs:label "Benign partial infantile seizures" . _:9e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign partial infantile seizures"; rdfs:comment "preferred label from MONDO" . _:9e13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166311" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:G40.4", "MONDO:0015650"; "epilepsy syndrome", "syndromic epilepsy"; "Orphanet:166463"; ; rdfs:label "Epilepsy syndrome" . _:9e1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epilepsy syndrome"; rdfs:comment "preferred label from MONDO" . _:9e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic epilepsy"; "MONDO:cjm" . _:9e1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166463" . a owl:Class; rdfs:subClassOf , ; , ; ; "MONDO:0015651", "UMLS:CN200062"; "neurocutaneous syndrome with epilepsy"; "Orphanet:166466"; ; rdfs:label "Neurocutaneous syndrome with epilepsy" . _:9e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166466" . _:9e21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200062"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9e23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurocutaneous syndrome with epilepsy"; rdfs:comment "preferred label from MONDO" . _:9e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166466" . a owl:Class; rdfs:subClassOf , , , ; , ; "MONDO:0015653", "UMLS:CN200063"; "monogenic disease with epilepsy"; "Orphanet:166472"; ; rdfs:label "Monogenic disease with epilepsy" . _:9e28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200063"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9e2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monogenic disease with epilepsy"; rdfs:comment "preferred label from MONDO" . _:9e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166472" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015654", "UMLS:CN200064"; "idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes"; "Orphanet:166475"; ; rdfs:label "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" . _:9e2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200064"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9e2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes"; rdfs:comment "preferred label from MONDO" . _:9e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166475" . a owl:Class; rdfs:subClassOf , , ; ; ; "MONDO:0015655"; "cerebral malformation with epilepsy"; "Orphanet:166478"; ; rdfs:label "Cerebral malformation with epilepsy" . _:9e35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166478" . _:9e37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral malformation with epilepsy"; rdfs:comment "preferred label from MONDO" . _:9e38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:166478" . a owl:Class; rdfs:subClassOf ; "UMLS:C1299598"; rdfs:label "Metabolic diseases with epilepsy"@en; "ORPHA:166481" . _:9e39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1299598"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricles, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases."@en; "orphanet"@en; "ICD-10:Q24.0", "MeSH:D003914", "MedDRA:10012592", "UMLS:C0011813", "UMLS:C0265863"; rdfs:label "Dextrocardia"@en; "ORPHA:1666" . _:9e3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q24.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D003914"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10012592"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011813"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265863"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure."; , , , , , , ; "Early-onset diabetes mellitus with multiple epiphyseal dysplasia"@en, "WRS"@en; "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure."@en; "orphanet", "orphanet"@en; "DOID:0090060", "GARD:0005589", "ICD-10:E13", "ICD10:E10", "ICD10:E13", "MESH:C536739", "MONDO:0009192", "MSH:C536739", "MeSH:C536739", "NCIT:C131007", "OMIM:226980", "SCTID:254066006", "UMLS:C0432217"; "Early-onset diabetes mellitus with multiple epiphyseal dysplasia", "WRS", "Wolcott-Rallison syndrome", "early-onset diabetes mellitus with multiple epiphyseal dysplasia"; "IDDM-MED syndrome", "Iddm-Med syndrome", "MED-IDDM syndrome", "Med-Iddm syndrome", "Wolcott Rallison syndrome", "epiphyseal dysplasia multiple with early-onset diabetes mellitus", "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus"; "Orphanet:1667"; , ; rdfs:label "Wolcott-Rallison syndrome", "Wolcott-Rallison syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus"^^xsd:anyURI; "ORPHA:1667" . _:9e51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure."; "Orphanet:1667" . _:9e53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090060"; "MONDO:equivalentTo" . _:9e54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005589"; "MONDO:equivalentTo" . _:9e56d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13125; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13125 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13"; "Attributed"@en . _:9e57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13"; "NTBT (narrower term maps to a broader term)"@en . _:9e58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E13"; "DOID:0090060", "ORDO:1667/attributed", "ORDO:1667/ntbt", "Orphanet:1667" . _:9e59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536739"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1667/e", "Orphanet:1667" . _:9e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536739"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:9e5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:226980"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:226980"; "DOID:0090060", "GARD:0005589", "MONDO:equivalentTo", "ORDO:1667/e", "Orphanet:1667" . _:9e60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254066006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.43" . _:9e62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0432217"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0432217"; "GARD:0005589", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C131007", "OMIM:226980", "ORDO:1667/e", "Orphanet:1667" . _:9e66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WRS"; "Orphanet:1667" . _:9e68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolcott-Rallison syndrome"; "OMIM:226980" . _:9e69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolcott-Rallison syndrome"; rdfs:comment "preferred label from MONDO" . _:9e6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset diabetes mellitus with multiple epiphyseal dysplasia"; "Orphanet:1667" . _:9e6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDDM-MED syndrome"; "GARD:0005589" . _:9e6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Iddm-Med syndrome"; "OMIM:226980" . _:9e71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MED-IDDM syndrome"; "GARD:0005589" . _:9e73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Med-Iddm syndrome"; "OMIM:226980" . _:9e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolcott Rallison syndrome"; "GARD:0005589" . _:9e76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epiphyseal dysplasia multiple with early-onset diabetes mellitus"; "GARD:0005589" . _:9e77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus"; "OMIM:226980" . _:9e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1667" . _:9e79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus"^^xsd:anyURI; "GARD:0005589" . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.", "Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described."; "Gautier Koscielny"; , , ; , , , , , , , ; "Chédiak-Higashi disease"@en, "Chédiak-Higashi-Steinbrink syndrome"@en; "Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described."@en; "orphanet", "orphanet"@en; "DOID:2935", "GARD:0006035", "ICD-10:E70.3", "ICD10:D72.0", "ICD10:E70.3", "ICD10:E70.330", "MESH:D002609", "MONDO:0008963", "MSH:D002609", "MeSH:D002609", "MedDRA:10008415", "NCIT:C2941", "OMIM:214500", "ORDO:167", "SCTID:111396008", "UMLS:C0007965"; "CHS", "ChC)diak-Higashi disease", "ChC)diak-Higashi-Steinbrink syndrome", "Chediak - Steinbrinck anomaly", "Chediak-Higashi syndrome", "Chédiak-Higashi disease", "Chédiak-Higashi-Steinbrink syndrome"; "Chediak Higashi syndrome", "Chediak-Higashi syndrome; CHS", "Chédiak-Higashi syndrome"; "Orphanet:167"; , ; rdfs:label "Chédiak-Higashi syndrome", "Chédiak-Higashi syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome"^^xsd:anyURI; "ORPHA:167" . _:9e7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described."; "Orphanet:167" . _:9e7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9e81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2935"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9e82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2935"; "MONDO:equivalentTo" . _:9e83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006035"; "MONDO:equivalentTo" . _:9e84d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13155; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13155 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:9e88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.3"; "NTBT (narrower term maps to a broader term)"@en . _:9e8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D72.0"; "DOID:2935" . _:9e8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.3"; "MONDO:relatedTo", "ORDO:167/inclusion", "ORDO:167/ntbt", "Orphanet:167" . _:9e8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.330"; "DOID:2935", "MONDO:equivalentTo" . _:9e8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002609"; "DOID:2935", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:167/e", "Orphanet:167" . _:9e90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002609"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008415"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008415"; "ORDO:167/e", "Orphanet:167" . _:9e93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2941"; "DOID:2935", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:9e94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:214500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:214500"; "DOID:2935", "MONDO:equivalentTo", "ORDO:167/e", "Orphanet:167" . _:9e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORDO:167"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9e97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:111396008"; "DOID:2935", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.97" . _:9e98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007965"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007965"; "DOID:2935", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C2941", "OMIM:214500", "ORDO:167/e", "Orphanet:167" . _:9e9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHS"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHS"; "DOID:2935", "MONDO:Lexical", "OMIM:214500" . _:9ea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ChC)diak-Higashi disease"; "Orphanet:167" . _:9ea2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ChC)diak-Higashi-Steinbrink syndrome"; "Orphanet:167" . _:9ea3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chediak - Steinbrinck anomaly"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chediak - Steinbrinck anomaly"; "DOID:2935" . _:9ea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chediak-Higashi syndrome"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:9ea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chediak-Higashi syndrome"; "MONDO:Lexical", "OMIM:214500" . _:9ea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chediak-Higashi syndrome"; rdfs:comment "preferred label from MONDO" . _:9eaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chédiak-Higashi disease"; "Orphanet:167" . _:9eacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chédiak-Higashi-Steinbrink syndrome"; "Orphanet:167" . _:9eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chediak Higashi syndrome"; "GARD:0006035" . _:9eafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chediak-Higashi syndrome; CHS"; "OMIM:214500" . _:9eb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chédiak-Higashi syndrome"; "Orphanet:167" . _:9eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006035" . _:9eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:167" . _:9eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome"^^xsd:anyURI; "GARD:0006035" . a owl:Class; rdfs:subClassOf ; "MeSH:D009202", "MedDRA:10007636", "UMLS:C0878544"; rdfs:label "Rare cardiomyopathy"@en; "ORPHA:167848" . _:9eb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009202"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9eb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10007636"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9ebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0878544"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma."; , , , , ; "orphanet"; "GARD:0003287", "ICD10:L65.1", "ICD9:704.8", "MESH:D058247", "MONDO:0010908", "MSH:D058247", "OMIM:600628", "SCTID:238735005", "UMLS:C0406468"; "Coloboma - hair abnormality", "Loose Anagen Hair Syndrome", "loose anagen syndrome"; "loose anagen hair syndrome"; "Orphanet:168"; ; rdfs:label "Loose anagen syndrome" . _:9ec6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma."; "Orphanet:168" . _:9ec8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003287"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:9ec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L65.1"; "ORDO:168/attributed", "ORDO:168/ntbt", "Orphanet:168" . _:9ecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:704.8"; "MONDO:relatedTo", "i2s" . _:9ecbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058247"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:168/e", "Orphanet:168" . _:9eccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600628"; "MONDO:equivalentTo", "ORDO:168/e", "Orphanet:168" . _:9ecdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238735005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.58" . _:9eced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0406468"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:600628", "ORDO:168/e", "Orphanet:168" . _:9ecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "loose anagen syndrome"; rdfs:comment "preferred label from MONDO" . _:9ed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "loose anagen hair syndrome"; "OMIM:600628" . _:9ed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:168" . a owl:Class; rdfs:subClassOf , , ; "CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis."; , , , , , ; "XY sex reversal-adrenal failure"@en; "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels."@en; "orphanet"@en; "DOID:0050546", "ICD-10:Q56.1", "ICD10:Q56.1", "MESH:C566130", "MONDO:0013400", "NCIT:C131422", "OMIM:613743", "UMLS:C3151055"; "XY sex reversal - adrenal failure", "XY sex reversal-adrenal failure", "XY sex reversal-adrenal failure syndrome", "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete", "cholesterol side-chain Cleavage deficiency", "congenital adrenal insufficiency", "p450scc deficiency"; "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome"; "Orphanet:168558"; ; rdfs:label "46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency", "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency"@en; "ORPHA:168558" . _:9ed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis."; "NCIT:C131422" . _:9ed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050546"; "MONDO:equivalentTo" . _:9ed8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13205; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13205 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "Attributed"@en . _:9ed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "NTBT (narrower term maps to a broader term)"@en . _:9edad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56.1"; "ORDO:168558/attributed", "ORDO:168558/ntbt", "Orphanet:168558" . _:9edbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566130"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9edfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131422"; "MONDO:equivalentTo" . _:9ee0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613743"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9ee1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613743"; "DOID:0050546", "MONDO:equivalentTo", "ORDO:168558/e", "Orphanet:168558" . _:9ee2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151055"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613743" . _:9ee4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XY sex reversal-adrenal failure"; "Orphanet:168558" . _:9ee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XY sex reversal-adrenal failure syndrome"; "Orphanet:168558" . _:9ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete"; "DOID:0050546", "OMIM:613743" . _:9ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholesterol side-chain Cleavage deficiency"; "NCIT:C131422" . _:9ef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal insufficiency"; rdfs:comment "preferred label from MONDO" . _:9ef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "p450scc deficiency"; "DOID:0050546", "OMIM:613743" . _:9efad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency"; "Orphanet:168558" . _:9efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome"; "Orphanet:168558" . _:9f00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:168558" . a owl:Class; rdfs:subClassOf , , , , , , ; "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)."; , , , , ; "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)."@en; "orphanet", "orphanet"@en; "GARD:0010239", "ICD-10:D76.3", "ICD10:D76.3", "MESH:C538322", "MONDO:0011273", "OMIM:602782", "SCTID:711159002", "UMLS:C1864445"; "H syndrome"; "Faisalabad histiocytosis", "HJCD", "Rosai-Dorfman disease, familial", "SLC29A3 spectrum disorder", "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness", "histiocytosis with Joint contractures and sensorineural deafness", "histiocytosis-lymphadenopathy plus syndrome", "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss", "pigmented hypertrichosis with insulin-dependent diabetes mellitus", "sinus histiocytosis and massive lymphadenopathy"; "Orphanet:168569"; ; rdfs:label "H syndrome", "H syndrome"@en; "ORPHA:168569" . _:9f0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)."; "Orphanet:168569" . _:9f0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010239"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:9f0dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13225; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13225 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D76.3"; "Attributed"@en . _:9f0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D76.3"; "NTBT (narrower term maps to a broader term)"@en . _:9f11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D76.3"; "ORDO:168569/attributed", "ORDO:168569/ntbt", "Orphanet:168569" . _:9f14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538322"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9f16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602782"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9f18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602782"; "MONDO:equivalentTo", "ORDO:168569/e", "Orphanet:168569" . _:9f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:711159002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.60" . _:9f1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864445"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:602782" . _:9f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "H syndrome"; "OMIM:602782" . _:9f1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "H syndrome"; rdfs:comment "preferred label from MONDO" . _:9f1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Faisalabad histiocytosis"; "OMIM:602782" . _:9f20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HJCD"; "GARD:0010239" . _:9f21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rosai-Dorfman disease, familial"; "OMIM:602782" . _:9f22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLC29A3 spectrum disorder"; "GARD:0010239" . _:9f23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness"; "OMIM:602782" . _:9f25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "histiocytosis with Joint contractures and sensorineural deafness"; "OMIM:602782" . _:9f29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "histiocytosis-lymphadenopathy plus syndrome"; "OMIM:602782" . _:9f2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss"; "OMIM:602782" . _:9f2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmented hypertrichosis with insulin-dependent diabetes mellitus"; "OMIM:602782" . _:9f30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sinus histiocytosis and massive lymphadenopathy"; "OMIM:602782" . _:9f32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:168569" . a owl:Class; rdfs:subClassOf , , , ; "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination."; ; , , ; "MAT I/III deficiency"@en, "MAT deficiency"@en, "Methionine adenosyltransferase deficiency"@en; "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination."@en; "orphanet", "orphanet"@en; "GARD:0008397", "ICD-10:E72.1", "ICD10:E72.1", "MONDO:0009607", "NCIT:C123435", "OMIM:250850", "UMLS:C0268621"; "MAT I/III deficiency", "MAT deficiency", "Methionine adenosyltransferase deficiency", "brain demyelination due to methionine adenosyltransferase deficiency", "isolated persistent hypermethioninemia", "methionine adenosyltransferase deficiency"; "Mat I/III deficiency", "hypermethioninemia, isolated persistent", "methionine adenosyltransferase I/III deficiency"; "Orphanet:168598"; ; rdfs:label "Brain demyelination due to methionine adenosyltransferase deficiency", "Brain demyelination due to methionine adenosyltransferase deficiency"@en; "ORPHA:168598" . _:9f36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination."; "Orphanet:168598" . _:9f37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008397"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:9f38d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13249; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13249 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:9f3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:9f3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:168598/attributed", "ORDO:168598/ntbt", "Orphanet:168598" . _:9f3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123435"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.95/0.83/1.34" . _:9f41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:250850"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9f42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:250850"; "MONDO:equivalentTo", "ORDO:168598/e", "Orphanet:168598" . _:9f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268621"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9f47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAT I/III deficiency"; "Orphanet:168598" . _:9f48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAT deficiency"; "Orphanet:168598" . _:9f49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain demyelination due to methionine adenosyltransferase deficiency"; "ClinGen:AminoacidopathyGeneCurationPanel", "https://orcid.org/0000-0002-5655-9589" . _:9f4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated persistent hypermethioninemia"; "NCIT:C123435" . _:9f4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methionine adenosyltransferase deficiency"; "OMIM:250850", "Orphanet:168598" . _:9f4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methionine adenosyltransferase deficiency"; rdfs:comment "preferred label from MONDO" . _:9f4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mat I/III deficiency"; "OMIM:250850" . _:9f51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia, isolated persistent"; "OMIM:250850" . _:9f52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methionine adenosyltransferase I/III deficiency"; "OMIM:250850" . _:9f53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:168598" . a owl:Class; rdfs:subClassOf , ; "Rare ASD"@en, "Rare PDD"@en, "Rare autism spectrum disorder"@en; "ICD-10:F84.0", "ICD-10:F84.1", "ICD-10:F84.2", "ICD-10:F84.3", "ICD-10:F84.4", "ICD-10:F84.5", "ICD-10:F84.8", "ICD-10:F84.9", "ICD10:F84.0", "ICD10:F84.1", "ICD10:F84.2", "ICD10:F84.3", "ICD10:F84.4", "ICD10:F84.5", "ICD10:F84.8", "ICD10:F84.9", "MSH:D002659", "MeSH:D002659", "MedDRA:10061345", "UMLS:C0524528"; "Rare autism spectrum disorder"; rdfs:label "Rare pervasive developmental disorder", "Rare pervasive developmental disorder"@en; "ORPHA:168778" . _:9f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.0"; "BTNT (broader term maps to a narrower term)"@en . _:9f55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.0"; "Specific code (The term has its own code in the ICD10)"@en . _:9f56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.1"; "BTNT (broader term maps to a narrower term)"@en . _:9f57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.1"; "Specific code (The term has its own code in the ICD10)"@en . _:9f5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.2"; "BTNT (broader term maps to a narrower term)"@en . _:9f5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.2"; "Specific code (The term has its own code in the ICD10)"@en . _:9f5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.3"; "BTNT (broader term maps to a narrower term)"@en . _:9f5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.3"; "Specific code (The term has its own code in the ICD10)"@en . _:9f60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.4"; "BTNT (broader term maps to a narrower term)"@en . _:9f61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.4"; "Specific code (The term has its own code in the ICD10)"@en . _:9f63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.5"; "BTNT (broader term maps to a narrower term)"@en . _:9f64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.5"; "Specific code (The term has its own code in the ICD10)"@en . _:9f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.8"; "BTNT (broader term maps to a narrower term)"@en . _:9f67d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13280; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13280 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.8"; "Specific code (The term has its own code in the ICD10)"@en . _:9f6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.9"; "BTNT (broader term maps to a narrower term)"@en . _:9f6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.9"; "Specific code (The term has its own code in the ICD10)"@en . _:9f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002659"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9f6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061345"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9f70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0524528"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; rdfs:label "Primary peritoneal tumor"@en; "ORPHA:168803" . a owl:Class; rdfs:subClassOf ; "ICD-10:C45.1", "ICD-10:C48.1", "ICD-10:C48.2"; rdfs:label "Primary malignant peritoneal tumor"@en; "ORPHA:168807" . _:9f74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C45.1"; "BTNT (broader term maps to a narrower term)"@en . _:9f75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C48.1"; "BTNT (broader term maps to a narrower term)"@en . _:9f76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C48.2"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf ; "A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence."@en; "orphanet"@en; rdfs:label "Malignant melanoma of the mucosa"@en; "ORPHA:168999" . a owl:Class; rdfs:subClassOf , ; "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations."; ; , , , , , ; ; "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations."@en; "orphanet"@en; "DOID:0060018", "GARD:0009521", "ICD-10:D81.2", "ICD10:D81.2", "MONDO:0014276", "OMIM:615607", "SCTID:725135004", "UMLS:C3810107", "UMLS:C4510864"; "CD3gamma deficiency", "combined immunodeficiency due to CD3gamma deficiency", "immunodeficiency type 17"; "CD3 deficiency", "CD3-gamma deficiency", "IMD17", "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive", "immunodeficiency 17", "immunodeficiency 17; IMD17"; "Orphanet:169082"; , ; rdfs:comment "Editor note: check GARD"; rdfs:label "Combined immunodeficiency due to CD3gamma deficiency", "Combined immunodeficiency due to CD3gamma deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency"^^xsd:anyURI; "ORPHA:169082" . _:9f7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations."; "Orphanet:169082" . _:9f7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:0060018", "https://github.com/monarch-initiative/mondo-build/issues/108" . _:9f7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060018"; "MONDO:equivalentTo" . _:9f7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009521"; "MONDO:equivalentTo" . _:9f7fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13294; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13294 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:9f80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:9f81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:169082/attributed", "ORDO:169082/ntbt", "Orphanet:169082" . _:9f82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615607"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9f83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615607"; "MONDO:equivalentTo", "ORDO:169082/e", "Orphanet:169082" . _:9f84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725135004"; "MONDO:equivalentTo" . _:9f86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3810107"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:615607" . _:9f88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4510864"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:9f8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CD3gamma deficiency"; "MONDO:0000578" . _:9f8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to CD3gamma deficiency"; rdfs:comment "preferred label from MONDO" . _:9f92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 17"; "MONDORULE:2", "OMIM:615607" . _:9f93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CD3 deficiency"; "GARD:0009521" . _:9f94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CD3-gamma deficiency"; "OMIM:615607" . _:9f96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD17"; "MONDO:Lexical", "OMIM:615607" . _:9f99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive"; "OMIM:615607" . _:9f9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 17"; "MONDO:Lexical", "OMIM:615607" . _:9f9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 17; IMD17"; "OMIM:615607" . _:9f9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169082" . _:9fa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency"^^xsd:anyURI; "GARD:0009521" . a owl:Class; rdfs:subClassOf , ; "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes."; , , , , ; "Familial CD8 deficiency"@en; "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes."@en; "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MESH:C563824", "MONDO:0012161", "OMIM:608957", "SCTID:766983005", "UMLS:C1837065"; "Familial CD8 deficiency", "familial CD8 deficiency", "susceptibility to respiratory infections associated with CD8alpha chain mutation"; "CD8 deficiency, familial"; "Orphanet:169085"; , ; rdfs:label "Susceptibility to respiratory infections associated with CD8alpha chain mutation", "Susceptibility to respiratory infections associated with CD8alpha chain mutation"@en; "ORPHA:169085" . _:9fa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes."; "Orphanet:169085" . _:9fa6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13315; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13315 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:9fa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:9fa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:169085/attributed", "ORDO:169085/ntbt", "Orphanet:169085" . _:9faad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563824"; "MONDO:equivalentTo", "MONDO:ontobio" . _:9facd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608957"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9faed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608957"; "MONDO:equivalentTo", "ORDO:169085/e", "Orphanet:169085" . _:9fb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:766983005"; "MONDO:equivalentTo" . _:9fb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1837065"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9fb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1837065"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:608957", "Orphanet:169085" . _:9fb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial CD8 deficiency"; "Orphanet:169085" . _:9fb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "susceptibility to respiratory infections associated with CD8alpha chain mutation"; rdfs:comment "preferred label from MONDO" . _:9fbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CD8 deficiency, familial"; "OMIM:608957" . _:9fbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169085" . a owl:Class; rdfs:subClassOf , , , ; " deficiency (see these terms).", "deficiency (see these terms)."; , ; "Immune dysfunction due to T-cell inactivation due to calcium entry defect"@en; "Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency."@en; "orphanet", "orphanet"@en; "ICD-10:D81.8", "ICD10:D81.8", "MONDO:0015695", "OMIM:612782", "OMIM:612783", "SCTID:717811007"; "Immune dysfunction due to T-cell inactivation due to calcium entry defect", "combined immunodeficiency due to CRAC channel dysfunction", "immune dysfunction due to T-cell inactivation due to calcium entry defect"; "Orphanet:169090"; ; rdfs:label "Combined immunodeficiency due to CRAC channel dysfunction", "Combined immunodeficiency due to CRAC channel dysfunction"@en; "ORPHA:169090" . _:9fc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency (see these terms)."; "Orphanet:169090" . _:9fc5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13330; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13330 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:9fc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:9fcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:169090/attributed", "ORDO:169090/ntbt", "Orphanet:169090" . _:9fcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612782"; "BTNT (broader term maps to a narrower term)"@en . _:9fcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612783"; "BTNT (broader term maps to a narrower term)"@en . _:9fd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717811007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.55" . _:9fd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to CRAC channel dysfunction"; rdfs:comment "preferred label from MONDO" . _:9fd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune dysfunction due to T-cell inactivation due to calcium entry defect"; "Orphanet:169090" . _:9fd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169090" . a owl:Class; rdfs:subClassOf ; "Thymoma-immunodeficiency syndrome"@en; "Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections."@en; "orphanet"@en; "UMLS:C0221027"; rdfs:label "Good syndrome"@en; "ORPHA:169105" . _:9fd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221027"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span."; , , , , , ; "DOID:624", "ICD-10:D80.7", "ICD10:D80.7", "ICD9:279.09", "MONDO:0015698", "MedDRA:10044388", "NCIT:C27071", "SCTID:88714009", "UMLS:C0272238"; "THI", "transient hypogammaglobulinemia of infancy"; "Orphanet:169139"; ; rdfs:label "Transient hypogammaglobulinemia of infancy", "Transient hypogammaglobulinemia of infancy"@en; "ORPHA:169139" . _:9fdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span."; "NCIT:P378" . _:9fdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:624"; "MONDO:equivalentTo" . _:9fe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.7"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9fe3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13344; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13344 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.7"; "Specific code (The term has its own code in the ICD10)"@en . _:9fe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.7"; "DOID:624", "MONDO:equivalentTo", "ORDO:169139/e", "ORDO:169139/specific", "Orphanet:169139" . _:9fe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.09"; "MONDO:relatedTo", "i2s" . _:9fe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10044388"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9fe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10044388"; "ORDO:169139/e", "Orphanet:169139" . _:9febd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27071"; "DOID:624", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:9fedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:88714009"; "DOID:624", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:9feed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0272238"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:9fefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0272238"; "DOID:624", "MONDO:equivalentTo", "NCIT:C27071", "ORDO:169139/e", "Orphanet:169139" . _:a007d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THI"; "NCIT:C27071" . _:a009d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transient hypogammaglobulinemia of infancy"; "DOID:624", "NCIT:C27071" . _:a00cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transient hypogammaglobulinemia of infancy"; rdfs:comment "preferred label from MONDO" . _:a00dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169139" . a owl:Class; rdfs:subClassOf , ; "Immunodeficiency due to C1, C4, or C2 component complement deficiency"@en, "Immunodeficiency due to an early component of complement deficiency"@en; "Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected."@en; "orphanet"@en; "ICD-10:D84.1", "ICD10:D84.1", "OMIM:120790", "OMIM:216950", "OMIM:217000", "OMIM:613652", "OMIM:613783", "OMIM:614379", "OMIM:614380"; "Immunodeficiency due to a C1, C4, or C2 component complement deficiency"; rdfs:label "Immunodeficiency due to a classical component pathway complement deficiency"@en, "Immunodeficiency due to an early component of complement deficiency"; "ORPHA:169147" . _:a013d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13358; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13358 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:a015d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:a016d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:216950"; "BTNT (broader term maps to a narrower term)"@en . _:a017d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:217000"; "BTNT (broader term maps to a narrower term)"@en . _:a018d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613652"; "BTNT (broader term maps to a narrower term)"@en . _:a019d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613783"; "BTNT (broader term maps to a narrower term)"@en . _:a01bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614379"; "BTNT (broader term maps to a narrower term)"@en . _:a01dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614380"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf , , ; "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection."; ; "Immunodeficiency due to C5 to C9 component complement deficiency"@en, "Terminal complement pathway deficiency"@en; "Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable."@en; "orphanet"@en; "ICD-10:D84.1", "ICD10:D84.1", "MONDO:0015700", "OMIM:609536", "OMIM:610102", "OMIM:612446", "OMIM:613789", "OMIM:613790", "OMIM:613825"; "Deficiency of complement of terminal pathway", "Immunodeficiency due to a C5 to C9 component complement deficiency", "deficiency of complement of terminal pathway", "immunodeficiency due to C5 to C9 component complement deficiency", "immunodeficiency due to a C5 to C9 component complement deficiency", "immunodeficiency due to a late component of complement deficiency", "terminal complement pathway deficiency"; "Orphanet:169150"; ; rdfs:label "Immunodeficiency due to a late component of complement deficiency"@en, "Immunodeficiency due to a late component of complements deficiency"; "ORPHA:169150" . _:a023d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection."; "PMID:20930072", "https://orcid.org/0000-0001-5208-3432" . _:a024d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13368; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13368 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:a026d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:a028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:169150/attributed", "ORDO:169150/ntbt", "Orphanet:169150" . _:a029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609536"; "BTNT (broader term maps to a narrower term)"@en . _:a02bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610102"; "BTNT (broader term maps to a narrower term)"@en . _:a02dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612446"; "BTNT (broader term maps to a narrower term)"@en . _:a02fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613789"; "BTNT (broader term maps to a narrower term)"@en . _:a031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613790"; "BTNT (broader term maps to a narrower term)"@en . _:a033d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613825"; "BTNT (broader term maps to a narrower term)"@en . _:a036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of complement of terminal pathway"; "Orphanet:169150" . _:a037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to C5 to C9 component complement deficiency"; "Orphanet:169150" . _:a038d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to a C5 to C9 component complement deficiency"; "Orphanet:169150" . _:a039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to a late component of complement deficiency"; rdfs:comment "preferred label from MONDO" . _:a03bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "terminal complement pathway deficiency"; "Orphanet:169150" . _:a03cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169150" . a owl:Class; rdfs:subClassOf , , ; "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus."; , ; "T-B+ SCID due to IL-7Ralpha deficiency"@en; "MONDO:0000575"; "DOID:0060015", "ICD-10:D81.2", "ICD10:D81.2", "MONDO:0015701", "OMIM:608971", "UMLS:C1837028"; "IL-7R", "IL-7Ralpha deficiency", "T-B+ SCID due to IL-7Ralpha deficiency", "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"; "interleukin-7 receptor alpha deficiency"; "Orphanet:169154"; ; rdfs:label "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency", "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"@en; "ORPHA:169154" . _:a041d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus."; "DOID:0060015", "http://bioinf.uta.fi/IL7Rbase/" . _:a044d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060015"; "MONDO:equivalentTo" . _:a045d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13386; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13386 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:a046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:a047d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:169154/attributed", "ORDO:169154/ntbt", "Orphanet:169154" . _:a049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608971"; "NTBT (narrower term maps to a broader term)"@en . _:a04bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1837028"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a04cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL-7R"; "DOID:0060015" . _:a04fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ SCID due to IL-7Ralpha deficiency"; "Orphanet:169154" . _:a050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"; rdfs:comment "preferred label from MONDO" . _:a052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "interleukin-7 receptor alpha deficiency"; "DOID:0060015" . _:a054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169154" . a owl:Class; rdfs:subClassOf , ; , ; "T-B+ SCID due to CD45 deficiency"@en; "DOID:0060014", "ICD-10:D81.2", "ICD10:D81.2", "MONDO:0015702", "OMIM:608971", "UMLS:C1837028"; "CD45 deficiency", "T-B+ SCID due to CD45 deficiency", "T-B+ severe combined immunodeficiency due to CD45 deficiency"; "Orphanet:169157"; ; rdfs:label "T-B+ severe combined immunodeficiency due to CD45 deficiency", "T-B+ severe combined immunodeficiency due to CD45 deficiency"@en; "ORPHA:169157" . _:a055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060014"; "MONDO:equivalentTo" . _:a056d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13398; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13398 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:a058d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:a05ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:169157/attributed", "ORDO:169157/ntbt", "Orphanet:169157" . _:a05cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608971"; "NTBT (narrower term maps to a broader term)"@en . _:a05dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1837028"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a05fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CD45 deficiency"; "MONDO:0000574" . _:a061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ SCID due to CD45 deficiency"; "Orphanet:169157" . _:a063d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ severe combined immunodeficiency due to CD45 deficiency"; rdfs:comment "preferred label from MONDO" . _:a064d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169157" . a owl:Class; rdfs:subClassOf , ; ; "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta"@en; "ICD-10:D81.2", "ICD10:D81.2", "MONDO:0015703", "OMIM:608971", "OMIM:610163", "OMIM:615615", "OMIM:615617"; "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta", "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"; "Orphanet:169160"; , ; rdfs:label "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta", "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"@en; "ORPHA:169160" . _:a067d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13408; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13408 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:a068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:a069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:169160/attributed", "ORDO:169160/ntbt", "Orphanet:169160" . _:a06ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608971"; "NTBT (narrower term maps to a broader term)"@en . _:a06bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610163"; "BTNT (broader term maps to a narrower term)"@en . _:a06cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615615"; "BTNT (broader term maps to a narrower term)"@en . _:a06dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615617"; "BTNT (broader term maps to a narrower term)"@en . _:a06ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta"; "Orphanet:169160" . _:a06fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"; rdfs:comment "preferred label from MONDO" . _:a071d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169160" . a owl:Class; rdfs:subClassOf , , ; ; "MONDO:0015707"; "DNA repair defect other than combined T-cell and B-cell immunodeficiencies"; "Orphanet:169346"; ; rdfs:label "DNA repair defect other than combined T-cell and B-cell immunodeficiencies" . _:a072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA repair defect other than combined T-cell and B-cell immunodeficiencies"; rdfs:comment "preferred label from MONDO" . _:a074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169346" . a owl:Class; rdfs:subClassOf , ; , , ; "MONDO:0015708", "SCTID:254067002", "UMLS:C0432218"; "immuno-osseous dysplasia"; "Orphanet:169349"; ; rdfs:label "Immuno-osseous dysplasia" . _:a076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254067002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:a077d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immuno-osseous dysplasia"; rdfs:comment "preferred label from MONDO" . _:a079d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169349" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015709", "UMLS:CN200213"; "immunodeficiency syndrome with autoimmunity"; "Orphanet:169355"; ; rdfs:label "Immunodeficiency syndrome with autoimmunity" . _:a07dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200213"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a07ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency syndrome with autoimmunity"; rdfs:comment "preferred label from MONDO" . _:a07fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169355" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015710", "UMLS:CN200214"; "immune dysregulation disease with immunodeficiency"; "Orphanet:169361"; ; rdfs:label "Immune dysregulation disease with immunodeficiency", "Immune dysregulation disease with immunodeficiency"@en; "ORPHA:169361" . _:a084d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200214"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a086d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune dysregulation disease with immunodeficiency"; rdfs:comment "preferred label from MONDO" . _:a088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169361" . a owl:Class; rdfs:subClassOf ; ; "ICD-10:D80.6", "ICD10:D80.6", "MONDO:0015711"; "specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells"; "Orphanet:169443"; ; rdfs:label "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells", "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells"@en; "ORPHA:169443" . _:a08bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.6"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a08ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13431; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13431 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.6"; "Specific code (The term has its own code in the ICD10)"@en . _:a08fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.6"; "ORDO:169443/e", "ORDO:169443/specific", "Orphanet:169443" . _:a090d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells"; rdfs:comment "preferred label from MONDO" . _:a091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169443" . a owl:Class; rdfs:subClassOf ; "Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES."; "orphanet"; "ICD10:D82.4", "OMIM:243700", "OMIM:611521", "UMLS:C1968689"; "AR-HIES", "Autosomal recessive HIES", "Hyperimmunoglobulin E syndrome type 2", "Non-skeletal hyper-IgE syndrome"; rdfs:label "Autosomal recessive hyper-IgE syndrome" . a owl:Class; rdfs:subClassOf , ; ; , , , , ; "Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations."@en; "orphanet"@en; "ICD-10:D84.1", "ICD10:D84.1", "ICD9:279.8", "MESH:C565027", "MONDO:0013487", "OMIM:613912", "SCTID:234607008", "UMLS:C0398764"; "recurrent Neisseria infections due to factor D deficiency"; "CFDD", "complement factor D deficiency", "complement factor D deficiency; CFDD", "factor D deficiency"; "Orphanet:169467"; ; rdfs:label "Recurrent Neisseria infections due to factor D deficiency", "Recurrent Neisseria infections due to factor D deficiency"@en; "ORPHA:169467" . _:a09ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13436; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13436 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:a09cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:a09dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:169467/attributed", "ORDO:169467/ntbt", "Orphanet:169467" . _:a09ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.8"; "MONDO:relatedTo", "i2s" . _:a09fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C565027"; "MONDO:equivalentTo", "MONDO:ontobio" . _:a0a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613912"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a0a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613912"; "MONDO:equivalentTo", "ORDO:169467/e", "Orphanet:169467" . _:a0a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234607008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.95" . _:a0a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398764"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a0a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398764"; "MONDO:equivalentTo", "OMIM:613912", "Orphanet:169467" . _:a0aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "recurrent Neisseria infections due to factor D deficiency"; rdfs:comment "preferred label from MONDO" . _:a0abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFDD"; "MONDO:Lexical", "OMIM:613912" . _:a0acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement factor D deficiency"; "MONDO:Lexical", "OMIM:613912" . _:a0aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement factor D deficiency; CFDD"; "OMIM:613912" . _:a0afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor D deficiency"; "OMIM:613912" . _:a0b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169467" . a owl:Class; rdfs:subClassOf ; ; "ICD-10:D68.2", "ICD10:D68.2", "MONDO:0015722"; "congenital vitamin K-dependent coagulation factors deficiency"; "Orphanet:169826"; ; rdfs:label "Congenital vitamin K-dependent coagulation factors deficiency", "Congenital vitamin K-dependent coagulation factors deficiency"@en; "ORPHA:169826" . _:a0b1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13453; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13453 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "Attributed"@en . _:a0b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "NTBT (narrower term maps to a broader term)"@en . _:a0b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.2"; "ORDO:169826/attributed", "ORDO:169826/ntbt", "Orphanet:169826" . _:a0b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital vitamin K-dependent coagulation factors deficiency"; rdfs:comment "preferred label from MONDO" . _:a0b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:169826" . a owl:Class; rdfs:subClassOf ; "PSC"@en; "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure."@en; "orphanet"@en; "ICD-10:K83.0", "MeSH:C536419", "MedDRA:10036732", "OMIM:602114", "OMIM:613806", "UMLS:C0566602"; rdfs:label "Primary sclerosing cholangitis"@en; "ORPHA:171" . _:a0b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K83.0"; "NTBT (narrower term maps to a broader term)"@en . _:a0b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536419"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a0b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036732"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a0bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602114"; "BTNT (broader term maps to a narrower term)"@en . _:a0bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613806"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a0bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0566602"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay."; , ; "Del(6)(q16)"@en, "Monosomy 6q16"@en, "Prader-Willi-like syndrome due to microdeletion 6q16"@en; "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay."@en; "orphanet", "orphanet"@en; "ICD-10:Q93.5", "ICD10:Q93.5", "MONDO:0015749", "UMLS:CN200301"; "6q16 deletion syndrome", "Del(6)(q16)", "Monosomy 6q16", "Prader-Willi-like syndrome due to deletion 6q16", "monosomy 6q16"; "Orphanet:171829"; ; rdfs:label "6q16 deletion syndrome", "6q16 microdeletion syndrome"@en; "ORPHA:171829" . _:a0ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay."; "Orphanet:171829" . _:a0ced a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13466; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13466 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q93.5"; "Attributed"@en . _:a0cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q93.5"; "NTBT (narrower term maps to a broader term)"@en . _:a0d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:171829/attributed", "ORDO:171829/ntbt", "Orphanet:171829" . _:a0d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200301"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:a0d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "6q16 deletion syndrome"; rdfs:comment "preferred label from MONDO" . _:a0d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Del(6)(q16)"; "Orphanet:171829" . _:a0d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi-like syndrome due to deletion 6q16"; "Orphanet:171829" . _:a0d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy 6q16"; "Orphanet:171829" . _:a0d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:171829" . a owl:Class; rdfs:subClassOf ; rdfs:label "Myeloid hemopathy"@en; "ORPHA:171895" . a owl:Class; rdfs:subClassOf ; rdfs:label "Lymphoid hemopathy"@en; "ORPHA:171898" . a owl:Class; rdfs:subClassOf , ; "ICD-10:C84.8", "MeSH:D016410", "MedDRA:10011677", "UMLS:C0079773"; rdfs:label "Primary cutaneous T-cell lymphoma"@en; "ORPHA:171901" . _:a0ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C84.8"; "NTBT (narrower term maps to a broader term)"@en . _:a0e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016410"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a0e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011677"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a0e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079773"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "B-cell NHL"@en; rdfs:label "B-cell non-Hodgkin lymphoma"@en; "ORPHA:171915" . a owl:Class; rdfs:subClassOf ; "T-cell NHL"@en; "MedDRA:10042971", "UMLS:C0079772"; rdfs:label "T-cell non-Hodgkin lymphoma"@en; "ORPHA:171918" . _:a0e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10042971"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a0e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079772"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin."; , , , ; "PFIC"@en; "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin."@en; "orphanet", "orphanet"@en; "DOID:0070221", "ICD-10:K76.8", "ICD10:K76.8", "ICD10:K83.1", "MONDO:0015762", "NCIT:C84453", "OMIM:211600", "OMIM:601847", "OMIM:602347", "OMIM:615878", "OMIM:617049", "OMIMPS:211600", "UMLS:C0268312"; "PFIC", "cholestasis, progressive familial intrahepatic", "progressive familial intrahepatic cholestasis"; "Orphanet:172"; ; rdfs:label "Progressive familial intrahepatic cholestasis", "Progressive familial intrahepatic cholestasis"@en; "ORPHA:172" . _:a0f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin."; "Orphanet:172" . _:a0f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070221"; "MONDO:equivalentTo" . _:a0f5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13484; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13484 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K76.8"; "Attributed"@en . _:a0f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K76.8"; "NTBT (narrower term maps to a broader term)"@en . _:a0f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K76.8"; "ORDO:172/attributed", "ORDO:172/ntbt", "Orphanet:172" . _:a0f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84453"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:a0fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:211600"; "BTNT (broader term maps to a narrower term)"@en . _:a0fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601847"; "BTNT (broader term maps to a narrower term)"@en . _:a0fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602347"; "BTNT (broader term maps to a narrower term)"@en . _:a0ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615878"; "BTNT (broader term maps to a narrower term)"@en . _:a101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615878"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a103d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617049"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a104d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:211600"; "MONDO:cjm", "MONDO:equivalentTo" . _:a106d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268312"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a108d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268312"; "MONDO:equivalentTo", "NCIT:C84453", "ORDO:172/e", "Orphanet:172" . _:a10ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PFIC"; "Orphanet:172" . _:a10bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholestasis, progressive familial intrahepatic"; "OMIMPS:211600" . _:a10dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive familial intrahepatic cholestasis"; rdfs:comment "preferred label from MONDO" . _:a10fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:172" . a owl:Class; rdfs:subClassOf ; ; "ICD10:G71.2", "MONDO:0015765"; "congenital myopathy with cores"; "Orphanet:172976"; ; rdfs:label "Congenital myopathy with cores" . _:a111d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "ORDO:172976/attributed", "ORDO:172976/ntbt", "Orphanet:172976" . _:a113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital myopathy with cores"; rdfs:comment "preferred label from MONDO" . _:a114d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:172976" . a owl:Class; rdfs:subClassOf , , , , , , ; "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."; , , , ; "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."@en; "orphanet"@en; "ICD-10:E23.0", "ICD10:E23.0", "MONDO:0015770", "NCIT:C120162", "SCTID:722944006", "UMLS:C3899503"; "congenital hypogonadotropic hypogonadism"; "Orphanet:174590"; ; rdfs:label "Congenital hypogonadotropic hypogonadism", "Congenital hypogonadotropic hypogonadism"@en; "ORPHA:174590" . _:a11cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."; "Orphanet:174590" . _:a11dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13506; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13506 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Attributed"@en . _:a11fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:a121d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "MONDO:relatedTo", "ORDO:174590/attributed", "ORDO:174590/ntbt", "Orphanet:174590" . _:a123d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120162"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:a124d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722944006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/25.58" . _:a12bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3899503"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C120162" . _:a12dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hypogonadotropic hypogonadism"; rdfs:comment "preferred label from MONDO" . _:a12fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:174590" . a owl:Class; rdfs:subClassOf , , , , ; "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth."; ; , , , , , , , ; "Autosomal recessive metaphyseal chondrodysplasia"@en, "Metaphyseal chondrodysplasia, McKusick type"@en; "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth."@en; "orphanet"@en; "DOID:14773", "GARD:0006996", "ICD-10:Q78.8", "ICD10:Q78.8", "MESH:C535916", "MONDO:0009595", "MSH:C535916", "MeSH:C535916", "MedDRA:10069596", "NCIT:C61245", "OMIM:250250", "OMIM:250460", "SCTID:7720002", "UMLS:C0220748"; "Autosomal recessive metaphyseal chondrodysplasia", "McKusick type metaphyseal chondrodysplasia", "Metaphyseal chondrodysplasia, McKusick type", "autosomal recessive metaphyseal chondrodysplasia", "cartilage hair hypoplasia", "cartilage-hair hypoplasia", "metaphyseal chondrodysplasia, McKusick type"; "CHH", "cartilage hair hypoplasia like syndrome", "cartilage-hair hypoplasia; CHH", "metaphyseal chondrodysplasia McKusick type", "metaphyseal chondrodysplasia, Mckusick type"; "Orphanet:175"; , ; rdfs:label "Cartilage-hair hypoplasia", "Cartilage-hair hypoplasia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia"^^xsd:anyURI; "ORPHA:175" . _:a137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth."; "Orphanet:175" . _:a138d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14773"; "MONDO:equivalentTo" . _:a139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006996"; "MONDO:equivalentTo" . _:a13ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13518; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13518 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.8"; "Attributed"@en . _:a13bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.8"; "NTBT (narrower term maps to a broader term)"@en . _:a13cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.8"; "ORDO:175/attributed", "ORDO:175/ntbt", "Orphanet:175" . _:a13dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535916"; "DOID:14773", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:175/e", "Orphanet:175" . _:a13ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535916"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a13fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069596"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a140d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069596"; "ORDO:175/e", "Orphanet:175" . _:a141d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61245"; "DOID:14773", "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.37/0.46" . _:a142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:250250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:250250"; "DOID:14773", "MONDO:equivalentTo", "ORDO:175/e", "Orphanet:175" . _:a144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:250460"; "NTBT (narrower term maps to a broader term)"@en . _:a145d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:7720002"; "DOID:14773", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.48" . _:a146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0220748"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a147d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0220748"; "DOID:14773", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C61245", "OMIM:250250", "ORDO:175/e", "Orphanet:175" . _:a148d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "McKusick type metaphyseal chondrodysplasia"; "DOID:14773" . _:a149d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive metaphyseal chondrodysplasia"; "Orphanet:175" . _:a14ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage hair hypoplasia"; "NCIT:C61245" . _:a14bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage-hair hypoplasia"; "MONDO:Lexical", "OMIM:250250" . _:a14cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage-hair hypoplasia"; rdfs:comment "preferred label from MONDO" . _:a14fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metaphyseal chondrodysplasia, McKusick type"; "DOID:14773", "Orphanet:175" . _:a151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHH"; "MONDO:Lexical", "OMIM:250250" . _:a153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage hair hypoplasia like syndrome"; "GARD:0006996" . _:a155d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cartilage-hair hypoplasia; CHH"; "OMIM:250250" . _:a156d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metaphyseal chondrodysplasia McKusick type"; "GARD:0006996" . _:a158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metaphyseal chondrodysplasia, Mckusick type"; "OMIM:250250" . _:a15ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006996" . _:a15cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:175" . _:a15fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia"^^xsd:anyURI; "GARD:0006996" . a owl:Class; rdfs:subClassOf , , , , , , ; "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development."; , ; "45,X/46,XY MGD"@en, "45,X0/46,XY MGD"@en, "45,X0/46,XY mixed gonadal dysgenesis"@en; "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development."@en; "orphanet", "orphanet"@en; "ICD-10:Q98.7", "ICD10:Q98.7", "MONDO:0015779", "NCIT:C120199"; "45,X/46,XY MGD", "45,X/46,XY disorder of Sex development", "45,X/46,XY gonadal dysgenesis", "45,X/46,XY mixed gonadal dysgenesis", "45,X0/46,XY MGD", "45,X0/46,XY mixed gonadal dysgenesis", "Mixed gonadal dysgenesis", "XY/X0"; "Orphanet:1772"; ; rdfs:label "45,X/46,XY mixed gonadal dysgenesis", "45,X/46,XY mixed gonadal dysgenesis"@en; "ORPHA:1772" . _:a167d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development."; "Orphanet:1772" . _:a169d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13548; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13548 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q98.7"; "Attributed"@en . _:a16bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q98.7"; "NTBT (narrower term maps to a broader term)"@en . _:a16cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q98.7"; "ORDO:1772/attributed", "ORDO:1772/ntbt", "Orphanet:1772" . _:a16ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120199"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.87/0.21" . _:a171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X/46,XY MGD"; "Orphanet:1772" . _:a173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X/46,XY disorder of Sex development"; "NCIT:C120199" . _:a174d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X/46,XY gonadal dysgenesis"; "NCIT:C120199" . _:a179d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X/46,XY mixed gonadal dysgenesis"; rdfs:comment "preferred label from MONDO" . _:a17ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X0/46,XY MGD"; "Orphanet:1772" . _:a17dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X0/46,XY mixed gonadal dysgenesis"; "Orphanet:1772" . _:a17fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mixed gonadal dysgenesis"; "NCIT:C120199" . _:a182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1772" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , , , , , ; "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer."; ; , , , , , , ; ; "DC"@en, "DKC"@en, "Zinsser-Engman-Cole syndrome"@en; "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer."@en; "orphanet", "orphanet"@en; "DOID:2729", "GARD:0010905", "ICD-10:Q82.8", "ICD10:Q82.8", "MESH:D019871", "MONDO:0015780", "MSH:D019871", "MeSH:D019871", "MedDRA:10062759", "NCIT:C111802", "OMIM:127550", "OMIM:224230", "OMIM:305000", "OMIM:613987", "OMIM:613988", "OMIM:613989", "OMIM:613990", "OMIM:615190", "OMIM:616353", "OMIM:616553", "OMIMPS:127550", "SCTID:74911008", "UMLS:C0265965"; "DC", "DKC", "Zinsser-Engman-Cole syndrome", "dyskeratosis congenita"; "DKC", "Hoyeraal-Hreidarsson syndrome", "Zinsser Cole Engman syndrome", "Zinsser-Engman-Cole syndrome"; "Orphanet:1775"; , , ; rdfs:comment "Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist"; rdfs:label "Dyskeratosis congenita", "Dyskeratosis congenita"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked"^^xsd:anyURI; "ORPHA:1775" . _:a18ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer."; "Orphanet:1775" . _:a18dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1775" . _:a18ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2729"; "MONDO:equivalentTo" . _:a18fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010905"; "MONDO:equivalentTo" . _:a190d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13565; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13565 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "Index term"@en . _:a191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:a192d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "ORDO:1775/index", "ORDO:1775/ntbt", "Orphanet:1775" . _:a193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019871"; "DOID:2729", "MONDO:equivalentTo", "ORDO:1775/e", "Orphanet:1775" . _:a194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D019871"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062759"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062759"; "ORDO:1775/e", "Orphanet:1775" . _:a19ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C111802"; "DOID:2729", "MONDO:equivalentTo" . _:a19dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:127550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a19ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:224230"; "BTNT (broader term maps to a narrower term)"@en . _:a1a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:305000"; "BTNT (broader term maps to a narrower term)"@en . _:a1a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613987"; "BTNT (broader term maps to a narrower term)"@en . _:a1a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613988"; "BTNT (broader term maps to a narrower term)"@en . _:a1a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613989"; "BTNT (broader term maps to a narrower term)"@en . _:a1a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613990"; "BTNT (broader term maps to a narrower term)"@en . _:a1a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615190"; "BTNT (broader term maps to a narrower term)"@en . _:a1acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616353"; "BTNT (broader term maps to a narrower term)"@en . _:a1afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616353"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a1b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616553"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a1b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:127550"; "MONDO:cjm", "MONDO:equivalentTo" . _:a1bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:74911008"; "DOID:2729", "MONDO:equivalentTo" . _:a1bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265965"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a1bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265965"; "DOID:2729", "MONDO:equivalentTo", "NCIT:C111802", "ORDO:1775/e", "Orphanet:1775" . _:a1bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC"; "Orphanet:1775" . _:a1c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DKC"; "Orphanet:1775" . _:a1c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zinsser-Engman-Cole syndrome"; "Orphanet:1775" . _:a1c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dyskeratosis congenita"; rdfs:comment "preferred label from MONDO" . _:a1c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DKC"; "GARD:0010905" . _:a1c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hoyeraal-Hreidarsson syndrome"; "GARD:0010905" . _:a1c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zinsser Cole Engman syndrome"; "GARD:0002007" . _:a1c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zinsser-Engman-Cole syndrome"; "GARD:0010905" . _:a1c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1775" . _:a1cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked"^^xsd:anyURI; "GARD:0002007" . a owl:Class; rdfs:subClassOf ; , ; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0015783", "UMLS:CN200365"; "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"; "Orphanet:177901"; ; rdfs:label "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1", "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"@en; "ORPHA:177901" . _:a1ced a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13599; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13599 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:a1cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:a1d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:177901/attributed", "ORDO:177901/ntbt", "Orphanet:177901" . _:a1d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200365"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:a1d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"; rdfs:comment "preferred label from MONDO" . _:a1d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:177901" . a owl:Class; rdfs:subClassOf ; , ; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0015784", "UMLS:CN200366"; "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"; "Orphanet:177904"; ; rdfs:label "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2", "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"@en; "ORPHA:177904" . _:a1dbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13606; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13606 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:a1dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:a1ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:177904/attributed", "ORDO:177904/ntbt", "Orphanet:177904" . _:a1dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200366"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:a1e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"; rdfs:comment "preferred label from MONDO" . _:a1e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:177904" . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0015785", "UMLS:CN200367"; "Prader-Willi syndrome due to translocation"; "Orphanet:177907"; ; rdfs:label "Prader-Willi syndrome due to translocation", "Prader-Willi syndrome due to translocation"@en; "ORPHA:177907" . _:a1ead a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13613; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13613 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:a1eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:a1f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:177907/attributed", "ORDO:177907/ntbt", "Orphanet:177907" . _:a1f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200367"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a1fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to translocation"; rdfs:comment "preferred label from MONDO" . _:a21ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:177907" . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0015786", "UMLS:CN200368"; "Prader-Willi syndrome due to imprinting mutation"; "Orphanet:177910"; ; rdfs:label "Prader-Willi syndrome due to imprinting mutation", "Prader-Willi syndrome due to imprinting mutation"@en; "ORPHA:177910" . _:a21bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13620; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13620 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:a21cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:a21dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:177910/attributed", "ORDO:177910/ntbt", "Orphanet:177910" . _:a21fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200368"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a221d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to imprinting mutation"; rdfs:comment "preferred label from MONDO" . _:a223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:177910" . a owl:Class; rdfs:subClassOf ; ; "ICD10:E23.0", "MONDO:0015789"; "non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations"; "Orphanet:178025"; ; rdfs:label "Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" . _:a227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "MONDO:relatedTo", "ORDO:178025/attributed", "ORDO:178025/ntbt", "Orphanet:178025" . _:a229d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations"; rdfs:comment "preferred label from MONDO" . _:a22bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:178025" . a owl:Class; rdfs:subClassOf ; "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present."; ; , , , ; "XMPMA"@en; "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present."@en; "orphanet"@en; "DOID:0070251", "ICD-10:G71.0", "ICD10:G71.0", "MONDO:0010401", "OMIM:300696", "UMLS:C2678055"; "X-linked myopathy with postural muscle atrophy", "XMPMA"; "Emery-Dreifuss muscular dystrophy 6, X-linked", "myopathy, X-linked, with postural muscle atrophy", "myopathy, X-linked, with postural muscle atrophy; XMPMA"; "Orphanet:178461"; ; rdfs:label "X-linked myopathy with postural muscle atrophy", "X-linked myopathy with postural muscle atrophy"@en; "ORPHA:178461" . _:a237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present."; "Orphanet:178461" . _:a239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070251"; "MONDO:equivalentTo" . _:a23cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13632; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Attributed"@en . _:a23ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:a23fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:178461/attributed", "ORDO:178461/ntbt", "Orphanet:178461" . _:a243d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300696"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a244d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300696"; "MONDO:equivalentTo", "ORDO:178461/e", "Orphanet:178461" . _:a246d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2678055"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a247d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2678055"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:300696", "Orphanet:178461" . _:a24ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked myopathy with postural muscle atrophy"; rdfs:comment "preferred label from MONDO" . _:a24bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XMPMA"; "MONDO:Lexical", "OMIM:300696", "Orphanet:178461" . _:a24cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Emery-Dreifuss muscular dystrophy 6, X-linked"; "OMIM:300696" . _:a24dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, X-linked, with postural muscle atrophy"; "MONDO:Lexical", "OMIM:300696" . _:a24ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, X-linked, with postural muscle atrophy; XMPMA"; "OMIM:300696" . _:a24fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:178461" . a owl:Class; rdfs:subClassOf ; rdfs:label "Indolent primary cutaneous T-cell lymphoma"@en; "ORPHA:178548" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Indolent primary cutaneous B-cell lymphoma"@en; "ORPHA:178557" . a owl:Class; rdfs:subClassOf ; "UMLS:C1274310"; rdfs:label "Primary cutaneous B-cell lymphoma"@en; "ORPHA:178563" . _:a254d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1274310"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia."; , , , , , , ; "Birdshot chorioretinitis"@en, "Birdshot retinochoroiditis"@en, "Birdshot retinochoroidopathy"@en, "Vitiliginous choroiditis"@en; "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia."@en; "orphanet"@en; "true"; "DOID:0111079", "GARD:0005926", "ICD-10:H30.1", "ICD10:H30.1", "MESH:C537630", "MONDO:0011599", "MSH:C537630", "MeSH:C537630", "OMIM:605808", "SCTID:231981005", "UMLS:C0339402", "UMLS:C1853959"; "BSCR", "Birdshot chorioretinitis", "Birdshot retinochoroiditis", "Birdshot retinochoroidopathy", "Vitiliginous choroiditis", "birdshot chorioretinitis", "birdshot chorioretinopathy", "birdshot retinochoroiditis", "birdshot retinochoroidopathy", "vitiliginous choroiditis"; "Bscr", "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk"; "Orphanet:179"; , ; rdfs:label "Birdshot chorioretinopathy", "Birdshot chorioretinopathy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy"^^xsd:anyURI; "ORPHA:179" . _:a261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia."; "Orphanet:179" . _:a263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0111079"; "MONDO:equivalentTo" . _:a265d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005926"; "MONDO:equivalentTo" . _:a266d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H30.1"; "NTBT (narrower term maps to a broader term)"@en . _:a269d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H30.1"; "DOID:0111079", "ORDO:179/ntbt", "Orphanet:179" . _:a26ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537630"; "DOID:0111079", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:179/e", "Orphanet:179" . _:a26bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537630"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a26cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605808"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a26dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605808"; "DOID:0111079", "MONDO:equivalentTo", "ORDO:179/e", "Orphanet:179" . _:a26ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:231981005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:a271d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339402"; "MEDGEN:kboom-pr95-c96", "MONDO:equivalentTo" . _:a272d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853959"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853959"; "DOID:0111079", "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:605808", "ORDO:179/e", "Orphanet:179" . _:a277d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BSCR"; "DOID:0111079" . _:a279d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "birdshot chorioretinitis"; "DOID:0111079", "Orphanet:179" . _:a27ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "birdshot chorioretinopathy"; "OMIM:605808" . _:a27cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "birdshot chorioretinopathy"; rdfs:comment "preferred label from MONDO" . _:a27ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "birdshot retinochoroiditis"; "DOID:0111079", "Orphanet:179" . _:a281d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "birdshot retinochoroidopathy"; "DOID:0111079", "Orphanet:179" . _:a285d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitiliginous choroiditis"; "DOID:0111079", "Orphanet:179" . _:a287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bscr"; "OMIM:605808" . _:a289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk"; "GARD:0005926" . _:a28ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005926" . _:a28fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:179" . _:a291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy"^^xsd:anyURI; "GARD:0005926" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0015823"; "primary immunodeficiency due to a defect in adaptive immunity"; "Orphanet:179006"; ; rdfs:label "Primary immunodeficiency due to a defect in adaptive immunity", "Primary immunodeficiency due to a defect in adaptive immunity"@en; "ORPHA:179006" . _:a294d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary immunodeficiency due to a defect in adaptive immunity"; rdfs:comment "preferred label from MONDO" . _:a296d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:179006" . a owl:Class; rdfs:subClassOf , , , ; "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs."; , , , ; "Autosomal dominant spondylocostal dysplasia"@en; "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs."@en; "orphanet", "orphanet"@en; "ICD-10:Q76.4", "ICD10:Q76.4", "MONDO:0015826", "OMIM:122600", "SCTID:716232002", "UMLS:C4274761", "UMLS:CN200437"; "Autosomal dominant spondylocostal dysplasia", "autosomal dominant spondylocostal dysostosis", "autosomal dominant spondylocostal dysplasia", "spondylocostal dysostosis, autosomal dominant"; "Orphanet:1797"; ; rdfs:label "Autosomal dominant spondylocostal dysostosis", "Autosomal dominant spondylocostal dysostosis"@en; "ORPHA:1797" . _:a29cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs."; "Orphanet:1797" . _:a29ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13675; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13675 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q76.4"; "Attributed"@en . _:a2a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q76.4"; "NTBT (narrower term maps to a broader term)"@en . _:a2a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q76.4"; "ORDO:1797/attributed", "ORDO:1797/ntbt", "Orphanet:1797" . _:a2a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:122600"; "NTBT (narrower term maps to a broader term)"@en . _:a2a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716232002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:a2a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4274761"; "MEDGEN:kboom-pr99-c99", "MONDO:equivalentTo" . _:a2a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200437"; "MEDGEN:kboom-pr99-c99", "MONDO:equivalentTo" . _:a2a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant spondylocostal dysostosis"; rdfs:comment "preferred label from MONDO" . _:a2a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant spondylocostal dysplasia"; "Orphanet:1797" . _:a2aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondylocostal dysostosis, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:a2abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1797" . a owl:Class; rdfs:subClassOf , ; "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia."; ; , , , ; "Classic RTA"@en, "Familial distal primary acidosis"@en, "Renal tubular acidosis type 1"@en, "dRTA"@en; "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia."@en; "orphanet", "orphanet"@en; "GARD:0004667", "HP:0008341", "ICD-10:N25.8", "ICD10:N25.8", "ICD9:588.89", "MONDO:0015827", "MedDRA:10045224", "OMIM:179800", "OMIM:267300", "OMIM:602722", "OMIM:611590", "SCTID:236461000", "UMLS:C0259810", "UMLS:C1704380"; "Classic RTA", "Familial distal primary acidosis", "Renal tubular acidosis type 1", "classic RTA", "dRTA", "distal renal tubular acidosis", "distal renal tubular acidosis (disease)", "familial distal primary acidosis", "renal tubular acidosis type 1"; "renal tubular acidosis, distal"; "Orphanet:18"; ; rdfs:label "Distal renal tubular acidosis", "Distal renal tubular acidosis"@en; "ORPHA:18" . _:a2b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia."; "Orphanet:18" . _:a2b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004667"; "MONDO:equivalentTo", "Orphanet-shared" . _:a2b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0008341"; "MONDO:otherHierarchy", "ontobio" . _:a2b9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13690; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13690 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.8"; "Attributed"@en . _:a2bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.8"; "NTBT (narrower term maps to a broader term)"@en . _:a2bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25.8"; "ORDO:18/attributed", "ORDO:18/ntbt", "Orphanet:18" . _:a2bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.89"; "MONDO:relatedTo", "i2s" . _:a2bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10045224"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a2c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10045224"; "ORDO:18/e", "Orphanet:18" . _:a2c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:179800"; "BTNT (broader term maps to a narrower term)"@en . _:a2c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:267300"; "BTNT (broader term maps to a narrower term)"@en . _:a2c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602722"; "BTNT (broader term maps to a narrower term)"@en . _:a2cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611590"; "BTNT (broader term maps to a narrower term)"@en . _:a2ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:236461000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.74/0.34" . _:a2d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0259810"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a2d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1704380"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a2d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic RTA"; "Orphanet:18" . _:a2d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dRTA"; "Orphanet:18" . _:a2d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal renal tubular acidosis"; "MONDO:ambiguous" . _:a2dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal renal tubular acidosis (disease)"; rdfs:comment "preferred label from MONDO" . _:a2dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial distal primary acidosis"; "Orphanet:18" . _:a2ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular acidosis type 1"; "Orphanet:18" . _:a2dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular acidosis, distal"; "GARD:0004667" . _:a2e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:18" . a owl:Class; rdfs:subClassOf , , , , ; "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina."; ; , , , , , , , ; "CHM"@en, "Tapetochoroidal dystrophy"@en; "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina."@en; "orphanet", "orphanet"@en; "DOID:9821", "GARD:0006061", "ICD-10:H31.2", "ICD10:H31.2", "ICD10:H31.21", "ICD9:363.55", "MESH:D015794", "MONDO:0010557", "MSH:D015794", "MeSH:D015794", "MedDRA:10008791", "NCIT:C34469", "OMIM:303100", "SCTID:75241009", "UMLS:C0008525"; "CHM", "Tapetochoroidal dystrophy", "choroideremia", "progressive choroidal atrophy"; "TCD", "Tapetochoroidal dystrophy, progressive", "choroidal sclerosis", "choroideremia; CHM", "progressive tapetochoroidal dystrophy"; "Orphanet:180"; , ; rdfs:label "Choroideremia", "Choroideremia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6061/choroideremia"^^xsd:anyURI; "ORPHA:180" . _:a2e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina."; "Orphanet:180" . _:a2e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9821"; "MONDO:equivalentTo" . _:a2e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006061"; "MONDO:equivalentTo" . _:a2e9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13715; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13715 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H31.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:a2f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H31.2"; "NTBT (narrower term maps to a broader term)"@en . _:a2f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H31.2"; "ORDO:180/inclusion", "ORDO:180/ntbt", "Orphanet:180" . _:a2f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H31.21"; "DOID:9821", "MONDO:equivalentTo" . _:a2f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:363.55"; "DOID:9821", "MONDO:equivalentTo", "i2s" . _:a2f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015794"; "DOID:9821", "MONDO:equivalentTo", "ORDO:180/e", "Orphanet:180" . _:a2fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015794"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a2ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008791"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a300d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008791"; "ORDO:180/e", "Orphanet:180" . _:a301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34469"; "DOID:9821", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:a302d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:303100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a303d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:303100"; "DOID:9821", "MONDO:equivalentTo", "ORDO:180/e", "Orphanet:180" . _:a306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75241009"; "DOID:9821", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:a307d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008525"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a309d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008525"; "DOID:9821", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C34469", "OMIM:303100", "ORDO:180/e", "Orphanet:180" . _:a30bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHM"; "MONDO:Lexical", "OMIM:303100", "Orphanet:180" . _:a30cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tapetochoroidal dystrophy"; "Orphanet:180" . _:a30dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "choroideremia"; "MONDO:Lexical", "OMIM:303100" . _:a30ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "choroideremia"; rdfs:comment "preferred label from MONDO" . _:a310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive choroidal atrophy"; "DOID:9821", "NCIT:C34469" . _:a313d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCD"; "GARD:0006061" . _:a314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tapetochoroidal dystrophy, progressive"; "OMIM:303100" . _:a315d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "choroidal sclerosis"; "OMIM:303100" . _:a317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "choroideremia; CHM"; "OMIM:303100" . _:a319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive tapetochoroidal dystrophy"; "GARD:0006061" . _:a31bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006061" . _:a31dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180" . _:a31fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6061/choroideremia"^^xsd:anyURI; "GARD:0006061" . a owl:Class; rdfs:subClassOf ; rdfs:label "Uterovaginal malformation"@en; "ORPHA:180062" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Non-syndromic uterovaginal malformation"@en; "ORPHA:180065" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q51.8", "MONDO:0015830"; "Incomplete bilateral aplasia of the Müllerian ducts", "incomplete bilateral aplasia of the Mullerian ducts", "incomplete bilateral aplasia of the Müllerian ducts", "partial bilateral aplasia of the mullerian ducts"; "partial bilateral aplasia of the Müllerian ducts"; "Orphanet:180068"; ; rdfs:label "Partial bilateral aplasia of the Müllerian ducts" . _:a324d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q51.8"; "ORDO:180068/attributed", "ORDO:180068/ntbt", "Orphanet:180068" . _:a327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "incomplete bilateral aplasia of the Mullerian ducts"; "Orphanet:180068" . _:a32bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "incomplete bilateral aplasia of the Müllerian ducts"; "Orphanet:180068" . _:a32cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial bilateral aplasia of the mullerian ducts"; rdfs:comment "preferred label from MONDO" . _:a334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial bilateral aplasia of the Müllerian ducts"; "Orphanet:180068" . _:a337d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180068" . a owl:Class; rdfs:subClassOf ; rdfs:label "Anomaly of puberty or/and menstrual cycle"@en; "ORPHA:180208" . a owl:Class; rdfs:subClassOf ; "syn: Rare tumor of ovaries and fallopian tubes"@en; rdfs:label "Rare uterine adnexal tumor"@en; "ORPHA:180220" . a owl:Class; rdfs:subClassOf ; "UMLS:C1458155"; rdfs:label "Rare breast tumor"@en; "ORPHA:180250" . _:a33dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1458155"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Rare breast cancer"@en; "UMLS:C0006142", "UMLS:C0678222"; rdfs:label "Rare malignant breast tumor"@en; "ORPHA:180257" . _:a340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006142"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0678222"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015877", "UMLS:CN200485"; "malformative syndrome with dentinogenesis imperfecta"; "Orphanet:180766"; ; rdfs:label "Malformative syndrome with dentinogenesis imperfecta" . _:a346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200485"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:a348d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malformative syndrome with dentinogenesis imperfecta"; rdfs:comment "preferred label from MONDO" . _:a349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180766" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015878", "UMLS:CN200486"; "rare disease with autism"; "Orphanet:180772"; , ; rdfs:label "Rare disease with autism"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:a34cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200486"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disease with autism"; rdfs:comment "preferred label from MONDO" . _:a352d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:180772" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare gastroesophageal tumor"@en; "ORPHA:180821" . a owl:Class; rdfs:subClassOf , ; "Rare pancreatic tumor"@en; "MedDRA:10061902", "UMLS:C0030297"; rdfs:label "Rare tumor of pancreas"@en; "ORPHA:180824" . _:a353d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061902"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a354d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030297"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome."; , , ; ; "ICD10:E11", "MONDO:0015885", "NCIT:C113169", "UMLS:C3714619"; "insulin Resistance syndrome", "rare insulin-resistance syndrome"; "Orphanet:181368"; , ; rdfs:comment "Editor note: was classified as genetic DM by orphanet, but some subtypes (e.g. acquired generalized lipodystrophy) may not be genetic"; rdfs:label "Rare insulin-resistance syndrome", "Rare insulin-resistance syndrome"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:181368" . _:a355d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome."; "NCIT:C113169" . _:a356d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181368" . _:a357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C113169"; "MONDO:equivalentTo" . _:a358d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3714619"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a359d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3714619"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:181368" . _:a35ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin Resistance syndrome"; "NCIT:C113169" . _:a35cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare insulin-resistance syndrome"; rdfs:comment "preferred label from MONDO" . _:a35ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181368" . a owl:Class; rdfs:subClassOf ; "Rare insulin-dependent diabetes mellitus"@en; "UMLS:C0011854"; rdfs:label "Rare diabetes mellitus type 1"@en; "ORPHA:181371" . _:a361d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011854"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Rare insulin-independent diabetes mellitus"@en; "UMLS:C0011860"; rdfs:label "Rare diabetes mellitus type 2"@en; "ORPHA:181376" . _:a365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011860"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Other rare diabetes mellitus"@en; "ORPHA:181381" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare hypothalamic or pituitary disease"@en; "ORPHA:181384" . a owl:Class; rdfs:subClassOf ; ; ; "MONDO:0015890"; "Rare disorder with secondary hypogonadism", "rare disorder with congenital hypogonadotropic hypogonadism", "rare disorder with secondary hypogonadism"; "rare disorder with hypogonadotropic hypogonadism"; "Orphanet:181387"; , ; rdfs:label "Rare disorder with hypogonadotropic hypogonadism"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:a369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disorder with congenital hypogonadotropic hypogonadism"; rdfs:comment "preferred label from MONDO" . _:a36ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disorder with secondary hypogonadism"; "Orphanet:181387" . _:a36cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disorder with hypogonadotropic hypogonadism"; "Orphanet:181387" . _:a36dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181387" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0015891"; "hypogonadotropic hypogonadism associated with other endocrinopathies"; "Orphanet:181390"; ; rdfs:label "Hypogonadotropic hypogonadism associated with other endocrinopathies" . _:a370d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropic hypogonadism associated with other endocrinopathies"; rdfs:comment "preferred label from MONDO" . _:a371d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181390" . a owl:Class; rdfs:subClassOf , , , ; "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms)."; , , , , ; "GARD:0003924", "ICD10:E34.3", "MONDO:0015892", "NCIT:C129867", "UMLS:C0271568", "UMLS:C4318479", "UMLS:CN200504"; "GHIS", "Growth hormone insensitivity syndromes", "Short stature due to a defect in growth hormone receptor or post-receptor pathway", "growth hormone insensitivity syndrome", "short stature due to a defect in growth hormone receptor or post-receptor pathway"; "Orphanet:181393"; ; rdfs:label "Growth hormone insensitivity syndrome" . _:a37cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms)."; "Orphanet:181393" . _:a37dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003924"; "MONDO:equivalentTo", "Orphanet-shared" . _:a37fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.3"; "ORDO:181393/attributed", "ORDO:181393/ntbt", "Orphanet:181393" . _:a380d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129867"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.86/0.70/0.24" . _:a382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271568"; "MONDO:equivalentTo", "NCIT:C129867", "ORDO:181393/e", "Orphanet:181393" . _:a385d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4318479"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:a387d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200504"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:a38ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHIS"; "Orphanet:181393" . _:a38cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth hormone insensitivity syndromes"; "NCIT:C129867" . _:a396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "growth hormone insensitivity syndrome"; rdfs:comment "preferred label from MONDO" . _:a397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short stature due to a defect in growth hormone receptor or post-receptor pathway"; "Orphanet:181393" . _:a398d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181393" . a owl:Class; rdfs:subClassOf , , ; "UMLS:C0020676"; rdfs:label "Rare hypothyroidism", "Rare hypothyroidism"@en; "ORPHA:181396" . _:a39bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020676"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "ICD10:E05.0", "ICD10:E05.1", "ICD10:E05.2", "ICD10:E05.3", "ICD10:E05.4", "ICD10:E05.5", "ICD10:E05.8", "ICD10:E05.9"; rdfs:label "Rare hyperthyroidism" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0015895", "UMLS:CN200505"; "syndrome with hypoparathyroidism"; "Orphanet:181402"; ; rdfs:label "Syndrome with hypoparathyroidism", "Syndrome with hypoparathyroidism"@en; "ORPHA:181402" . _:a39dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200505"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a39ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with hypoparathyroidism"; rdfs:comment "preferred label from MONDO" . _:a39fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181402" . a owl:Class; rdfs:subClassOf ; "ICD-10:E20.0", "ICD-10:E20.1", "ICD-10:E20.8", "ICD-10:E20.9", "UMLS:C0020626"; rdfs:label "Rare hypoparathyroidism"@en; "ORPHA:181405" . _:a3a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.0"; "BTNT (broader term maps to a narrower term)"@en . _:a3a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "BTNT (broader term maps to a narrower term)"@en . _:a3a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "BTNT (broader term maps to a narrower term)"@en . _:a3a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.9"; "BTNT (broader term maps to a narrower term)"@en . _:a3a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020626"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:E21.0", "ICD-10:E21.1", "ICD-10:E21.2", "ICD-10:E21.3", "UMLS:C0020502"; rdfs:label "Rare hyperparathyroidism"@en; "ORPHA:181408" . _:a3a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "BTNT (broader term maps to a narrower term)"@en . _:a3a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.1"; "BTNT (broader term maps to a narrower term)"@en . _:a3a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.2"; "BTNT (broader term maps to a narrower term)"@en . _:a3aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.3"; "BTNT (broader term maps to a narrower term)"@en . _:a3acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020502"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children."; , , , , , ; ; "ICD10:E25", "ICD10:E25.0", "ICD10:E25.8", "ICD10:E28.9", "ICD9:255.2", "MESH:D047808", "MONDO:0015898", "MSH:D047808", "MeSH:D047808", "MedDRA:10061630", "SCTID:267395000", "UMLS:C0302280", "UMLS:C0701163", "UMLS:CN200506"; "adrenogenital disorder", "adrenogenital syndrome", "androgenital syndrome"; "congenital adrenal hyperplasia"; "Orphanet:181412"; ; rdfs:label "Adrenogenital syndrome", "Adrenogenital syndrome"@en; "ORPHA:181412" . _:a3b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children."; "MESH:D047808" . _:a3b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181412" . _:a3b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.2"; "linkedlifedata" . _:a3bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D047808"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:181412/e", "Orphanet:181412" . _:a3bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D047808"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a3bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061630"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a3c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061630"; "ORDO:181412/e", "Orphanet:181412" . _:a3c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:267395000"; "MONDO:equivalentTo" . _:a3c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0302280"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a3c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0302280"; "MONDO:equivalentTo", "ORDO:181412/e", "Orphanet:181412" . _:a3c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0701163"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a3cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200506"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a3d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenogenital syndrome"; rdfs:comment "preferred label from MONDO" . _:a3d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia"; "https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia" . _:a3d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181412" . a owl:Class; rdfs:subClassOf ; "Rare primary aldosteronism"@en; "ICD-10:E26.0", "UMLS:C1384514"; rdfs:label "Rare primary hyperaldosteronism"@en; "ORPHA:181415" . _:a3d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "NTBT (narrower term maps to a broader term)"@en . _:a3d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1384514"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD10:E78.6"; rdfs:label "Rare hypolipidemia" . a owl:Class; rdfs:subClassOf , ; "A inherited lipid metabolism disorder that is part of a larger syndrome."; , , ; "MONDO:0015905", "SCTID:109041000119107", "UMLS:C3875286"; "complex dyslipidemia", "syndrome associated with inherited lipid metabolism disorder", "syndromic dyslipidemia", "syndromic inherited lipid metabolism disorder"; "rare syndromic dyslipidemia", "syndrome associated with inherited lipid metabolism disorder"; "Orphanet:181437"; ; rdfs:label "Rare syndromic dyslipidemia" . _:a3ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A inherited lipid metabolism disorder that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:a3ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:109041000119107"; "MONDO:equivalentTo" . _:a3dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3875286"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:a3e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with inherited lipid metabolism disorder"; "MONDO:patterns/syndromic" . _:a3e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic dyslipidemia"; rdfs:comment "preferred label from MONDO" . _:a3e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic inherited lipid metabolism disorder"; "MONDO:patterns/syndromic" . _:a3e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare syndromic dyslipidemia"; "Orphanet:181437" . _:a3e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with inherited lipid metabolism disorder"; "MONDO:patterns/syndromic" . _:a3e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:181437" . a owl:Class; rdfs:subClassOf , ; "Rare disorder with primary hypogonadism"; rdfs:label "Rare disorder with hypergonadotropic hypogonadism" . a owl:Class; rdfs:subClassOf ; "ICD10:D61.0", "ICD10:D61.1", "ICD10:D61.2", "ICD10:D61.3", "ICD10:D61.8", "ICD10:D61.9"; rdfs:label "Medullar aplasia" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare constitutional hemolytic anemia" . a owl:Class; rdfs:subClassOf ; "ICD-10:D59.0", "ICD-10:D59.1", "ICD-10:D59.2", "ICD-10:D59.3", "ICD-10:D59.4", "ICD-10:D59.5", "ICD-10:D59.6", "ICD-10:D59.8", "ICD-10:D59.9", "UMLS:C0002879"; rdfs:label "Rare acquired hemolytic anemia"@en; "ORPHA:182047" . _:a3e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.0"; "BTNT (broader term maps to a narrower term)"@en . _:a3e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.1"; "BTNT (broader term maps to a narrower term)"@en . _:a3e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.2"; "BTNT (broader term maps to a narrower term)"@en . _:a3e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.3"; "BTNT (broader term maps to a narrower term)"@en . _:a3ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.4"; "BTNT (broader term maps to a narrower term)"@en . _:a3ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.5"; "BTNT (broader term maps to a narrower term)"@en . _:a3ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.6"; "BTNT (broader term maps to a narrower term)"@en . _:a3edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.8"; "BTNT (broader term maps to a narrower term)"@en . _:a3eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.9"; "BTNT (broader term maps to a narrower term)"@en . _:a3efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002879"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD).", "MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD."; ; , , ; "MYH9-RD"@en, "MYH9-related disorder"@en, "MYH9-related syndrome"@en, "MYH9-related syndromic thrombocytopenia"@en; "MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD."@en; "orphanet", "orphanet"@en; "DOID:0060651", "GARD:0000180", "ICD-10:D69.4", "ICD10:D69.4", "ICD9:287.33", "MONDO:0015912", "OMIM:153650", "OMIM:155100", "OMIM:600208", "OMIM:605249", "SCTID:712922002", "UMLS:C1854520"; "MYH-9 related disease", "MYH9-RD", "MYH9-related disorder", "MYH9-related syndrome", "MYH9-related syndromic thrombocytopenia"; "Epstein syndrome", "Fechtner syndrome", "MYH9 related disorders", "MYH9 related thrombocytopenia", "MYH9-related disease", "May-Hegglin anomaly", "Sebastian platelet syndrome", "Sebastian syndrome"; "Orphanet:182050"; , ; rdfs:label "MYH9-related disease", "MYH9-related disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia"^^xsd:anyURI; "ORPHA:182050" . _:a3f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD."; "Orphanet:182050" . _:a3f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060651"; "MONDO:equivalentTo" . _:a3f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000180"; "MONDO:equivalentTo" . _:a3fcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13842; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.4"; "Attributed"@en . _:a400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.4"; "NTBT (narrower term maps to a broader term)"@en . _:a401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D69.4"; "DOID:0060651", "ORDO:182050/attributed", "ORDO:182050/ntbt", "Orphanet:182050" . _:a403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:287.33"; "MONDO:relatedTo", "i2s" . _:a405d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:153650"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a407d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155100"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a40bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600208"; "BTNT (broader term maps to a narrower term)"@en . _:a40dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605249"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a40ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:712922002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.86" . _:a40fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1854520"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a410d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH-9 related disease"; rdfs:comment "preferred label from MONDO" . _:a411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH9-RD"; "Orphanet:182050" . _:a413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH9-related disorder"; "Orphanet:182050" . _:a415d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH9-related syndrome"; "Orphanet:182050" . _:a416d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH9-related syndromic thrombocytopenia"; "Orphanet:182050" . _:a41ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epstein syndrome"; "GARD:0000180" . _:a41cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fechtner syndrome"; "GARD:0000180" . _:a41dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH9 related disorders"; "GARD:0000180" . _:a41fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH9 related thrombocytopenia"; "GARD:0000180" . _:a420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH9-related disease"; "Orphanet:182050" . _:a423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "May-Hegglin anomaly"; "GARD:0000180" . _:a42bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sebastian platelet syndrome"; "GARD:0000180" . _:a42cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sebastian syndrome"; "GARD:0000180" . _:a42ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182050" . _:a430d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia"^^xsd:anyURI; "GARD:0000180" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare thrombotic disease of hematologic origin"@en; "ORPHA:182054" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare neuroinflammatory or neuroimmunological disease"@en; "ORPHA:182064" . a owl:Class; rdfs:subClassOf ; "Glioma"@en; "MeSH:D005910", "MedDRA:10018338", "OMIM:137800", "OMIM:607248", "OMIM:613028", "OMIM:613029", "OMIM:613030", "OMIM:613031", "OMIM:613032", "OMIM:613033", "UMLS:C0017638"; rdfs:label "Glial tumor"@en; "ORPHA:182067" . _:a45fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D005910"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a461d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018338"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a462d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a463d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607248"; "BTNT (broader term maps to a narrower term)"@en . _:a464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613028"; "BTNT (broader term maps to a narrower term)"@en . _:a465d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613029"; "BTNT (broader term maps to a narrower term)"@en . _:a466d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613030"; "BTNT (broader term maps to a narrower term)"@en . _:a467d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613031"; "BTNT (broader term maps to a narrower term)"@en . _:a468d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613032"; "BTNT (broader term maps to a narrower term)"@en . _:a469d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613033"; "BTNT (broader term maps to a narrower term)"@en . _:a46bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017638"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "UMLS:C0524851"; rdfs:label "Rare neurodegenerative disease"@en; "ORPHA:182070" . _:a470d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0524851"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0015919", "UMLS:CN200517"; "syndromic neurometabolic disease with non-X-linked intellectual disability"; "Orphanet:182073"; ; rdfs:label "Syndromic neurometabolic disease with non-X-linked intellectual disability" . _:a474d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200517"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a475d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic neurometabolic disease with non-X-linked intellectual disability"; rdfs:comment "preferred label from MONDO" . _:a477d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182073" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015920", "UMLS:CN200518"; "syndromic neurometabolic disease with X-linked intellectual disability"; "Orphanet:182076"; ; rdfs:label "Syndromic neurometabolic disease with X-linked intellectual disability" . _:a47ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200518"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a47ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic neurometabolic disease with X-linked intellectual disability"; rdfs:comment "preferred label from MONDO" . _:a481d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182076" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0015921"; "ARX-related epileptic encephalopathy"; "Orphanet:182079"; ; rdfs:label "ARX-related epileptic encephalopathy" . _:a484d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARX-related epileptic encephalopathy"; rdfs:comment "preferred label from MONDO" . _:a486d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182079" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0015922"; "channelopathy with epilepsy"; "Orphanet:182083"; ; rdfs:label "Channelopathy with epilepsy" . _:a48dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "channelopathy with epilepsy"; rdfs:comment "preferred label from MONDO" . _:a48ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182083" . a owl:Class; rdfs:subClassOf ; "PAH"@en; "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term)."@en; "orphanet"@en; "MeSH:C536282", "MedDRA:10064911", "UMLS:C0152171", "UMLS:C1701938", "UMLS:C2973725"; rdfs:label "Pulmonary arterial hypertension"@en; "ORPHA:182090" . _:a493d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536282"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a494d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064911"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a497d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152171"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a498d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1701938"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a499d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2973725"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ILD"@en; "MeSH:D017563", "MedDRA:10022611", "UMLS:C0206062"; rdfs:label "Interstitial lung disease"@en; "ORPHA:182095" . _:a49ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017563"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a49bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10022611"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a49cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206062"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:J82"; rdfs:label "Idiopathic eosinophilic pneumonia"@en; "ORPHA:182101" . _:a49dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J82"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare urogenital tumor"@en; "ORPHA:182114" . a owl:Class; rdfs:subClassOf ; rdfs:label "Non-syndromic urogenital tract malformation of female"@en; "ORPHA:182117" . a owl:Class; rdfs:subClassOf ; "MedDRA:10061121", "UMLS:C0014132"; rdfs:label "Tumor of endocrine glands"@en; "ORPHA:182130" . _:a4a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061121"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014132"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare systemic disease"@en; "ORPHA:182222" . a owl:Class; rdfs:subClassOf ; rdfs:label "Systemic autoimmune disease"@en; "ORPHA:182228" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare rheumatologic disease"@en; "ORPHA:182231" . a owl:Class; rdfs:subClassOf ; "Churg-Strauss syndrome"@en, "EGPA"@en, "Granulomatous allergic angiitis"@en; "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia."@en; "orphanet"@en; "ICD-10:M30.1", "MeSH:C531653", "MeSH:D015267", "MedDRA:10048594", "UMLS:C0008728"; rdfs:label "Eosinophilic granulomatosis with polyangiitis"@en; "ORPHA:183" . _:a4a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M30.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C531653"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015267"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048594"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008728"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome."; , , , , , , , ; "Schimke syndrome"@en, "Spondyloepiphyseal dysplasia-nephrotic syndrome"@en; "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome."@en; "orphanet", "orphanet"@en; "DOID:0060490", "GARD:0004984", "ICD-10:Q77.7", "ICD10:Q77.7", "MESH:C536629", "MONDO:0009458", "MSH:C536629", "MeSH:C536629", "MedDRA:10048699", "NCIT:C135087", "OMIM:242900", "SCTID:723995003", "UMLS:C0877024"; "Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia - nephrotic syndrome", "immunoosseous dysplasia Schimke type", "spondyloepiphyseal dysplasia - nephrotic syndrome", "spondyloepiphyseal dysplasia-nephrotic syndrome"; "IMMUNOOSSEOUS dysplasia, Schimke type", "SIOD", "Schimke IMMUNOOSSEOUS dysplasia; SIOD", "Schimke Immunoosseous dysplasia", "spondyloepiphyseal dysplasia nephrotic syndrome"; "Orphanet:1830"; , ; rdfs:label "Schimke immuno-osseous dysplasia", "Schimke immuno-osseous dysplasia"@en; "ORPHA:1830" . _:a4bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome."; "Orphanet:1830" . _:a4bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060490"; "MONDO:equivalentTo" . _:a4bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004984"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:a4bfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid13910; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid13910 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.7"; "Attributed"@en . _:a4c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.7"; "NTBT (narrower term maps to a broader term)"@en . _:a4c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q77.7"; "ORDO:1830/attributed", "ORDO:1830/ntbt", "Orphanet:1830" . _:a4c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536629"; "DOID:0060490", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1830/e", "Orphanet:1830" . _:a4c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536629"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048699"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048699"; "ORDO:1830/e", "Orphanet:1830" . _:a4cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C135087"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:a4d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242900"; "DOID:0060490", "MONDO:equivalentTo", "ORDO:1830/e", "Orphanet:1830" . _:a4d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:723995003"; "MONDO:equivalentTo" . _:a4d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0877024"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a4d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0877024"; "DOID:0060490", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C135087", "OMIM:242900", "ORDO:1830/e", "Orphanet:1830" . _:a4dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schimke immuno-osseous dysplasia"; rdfs:comment "preferred label from MONDO" . _:a4ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schimke immunoosseous dysplasia"; "DOID:0060490" . _:a4ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schimke syndrome"; "DOID:0060490", "Orphanet:1830" . _:a4e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunoosseous dysplasia Schimke type"; "DOID:0060490" . _:a4e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondyloepiphyseal dysplasia - nephrotic syndrome"; "DOID:0060490" . _:a4e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondyloepiphyseal dysplasia-nephrotic syndrome"; "Orphanet:1830" . _:a4e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMMUNOOSSEOUS dysplasia, Schimke type"; "OMIM:242900" . _:a4e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIOD"; "GARD:0004984", "OMIM:242900" . _:a4e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schimke IMMUNOOSSEOUS dysplasia; SIOD"; "OMIM:242900" . _:a4ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schimke Immunoosseous dysplasia"; "OMIM:242900" . _:a4edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondyloepiphyseal dysplasia nephrotic syndrome"; "GARD:0004984" . _:a4efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1830" . a owl:Class; rdfs:subClassOf ; "Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases."; , ; "Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases."@en; "orphanet", "orphanet"@en; "MONDO:0015945", "UMLS:CN200541"; "PGSIRC", "polymalformative genetic syndrome with increased risk of developing cancer"; "Orphanet:183422"; ; rdfs:label "Polymalformative genetic syndrome with increased risk of developing cancer", "Polymalformative genetic syndrome with increased risk of developing cancer"@en; "ORPHA:183422" . _:a4f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases."; "Orphanet:183422" . _:a4f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200541"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a4f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGSIRC"; "MONDO:cjm" . _:a4f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polymalformative genetic syndrome with increased risk of developing cancer"; rdfs:comment "preferred label from MONDO" . _:a4f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183422" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic epidermal disorder", "Genetic epidermal disorder"@en; "ORPHA:183426" . a owl:Class; rdfs:subClassOf , , , ; "An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome."; , , , ; "Genetic ichthyosis"@en; "COHD:134743", "ICD10:Q80", "ICD9:757.1", "MONDO:0015947", "MedDRA:10021202", "OMIM:146700", "SCTID:13059002", "UMLS:C0856562"; "Genetic ichthyosis", "congenital ichthyosis of skin", "genetic ichthyosis", "hereditary ichthyosis (disease)", "inherited genetic ichthyosis", "inherited ichthyosis"; "congenital ichthyosis", "fish scale disease", "fish skin", "ichthyosis congenita"; "Orphanet:183435"; ; rdfs:label "Inherited ichthyosis", "Inherited ichthyosis"@en; "ORPHA:183435" . _:a4fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:a4fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:134743"; "MONDO:equivalentTo" . _:a4fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q80"; "MONDO:equivalentTo" . _:a500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.1"; "MONDO:equivalentTo", "i2s" . _:a505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021202"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a506d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021202"; "ORDO:183435/e", "Orphanet:183435" . _:a507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146700"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a509d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:13059002"; "MONDO:equivalentTo" . _:a50bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0856562"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a50ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic ichthyosis"; "Orphanet:183435" . _:a510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary ichthyosis (disease)"; "MONDO:patterns/hereditary" . _:a512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited genetic ichthyosis"; "MONDO:cjm" . _:a514d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited ichthyosis"; rdfs:comment "preferred label from MONDO" . _:a516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183435" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic porokeratosis" . a owl:Class; rdfs:subClassOf , , ; "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome."; ; "MONDO:0021026"; "genetic epidermal appendage anomaly"; "Orphanet:183447"; rdfs:label "Genetic epidermal appendage anomaly" . _:a517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:a519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic epidermal appendage anomaly"; "MONDO:patterns/genetic" . _:a51cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic epidermal appendage anomaly"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "An instance of hair anomaly that is caused by a modification of the individual's genome."; ; "MONDO:0021027"; "genetic hair anomaly"; "Orphanet:183450"; rdfs:label "Genetic hair anomaly" . _:a51ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of hair anomaly that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:a51fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hair anomaly"; "MONDO:patterns/genetic" . _:a520d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hair anomaly"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "An instance of nail anomaly that is caused by a modification of the individual's genome."; ; "ICD10:L60", "MONDO:0021028"; "genetic nail anomaly"; "Orphanet:183454"; rdfs:label "Genetic nail anomaly" . _:a521d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of nail anomaly that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:a522d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic nail anomaly"; "MONDO:patterns/genetic" . _:a523d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic nail anomaly"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome."; ; "MONDO:0021029"; "genetic sebaceous gland anomaly"; "Orphanet:183460"; rdfs:label "Genetic sebaceous gland anomaly" . _:a524d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:a525d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic sebaceous gland anomaly"; "MONDO:patterns/genetic" . _:a526d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic sebaceous gland anomaly"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , , ; "A pigmentation disease that involves the zone of skin."; ; , , ; "DOID:10123", "EFO:1000755", "ICD9:709.09", "MESH:D010859", "Orphanet:79374"; "pigmentation anomaly of the skin", "pigmentation disease of zone of skin", "skin pigmentation disease", "zone of skin pigmentation disease"; "pigmentation disease"; "Orphanet:183463"; ; rdfs:label "Genetic pigmentation anomaly of the skin" . _:a527d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pigmentation disease that involves the zone of skin."; "MONDO:design_pattern" . _:a528d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10123"; "EFO:1000755", "MONDO:equivalentTo" . _:a529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1000755"; "MONDO:equivalentTo" . _:a52ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:709.09"; "DOID:10123" . _:a52bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010859"; "MONDO:equivalentTo" . _:a52dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79374"; "MONDO:equivalentTo" . _:a530d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmentation disease of zone of skin"; "MONDO:design_pattern" . _:a531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin pigmentation disease"; rdfs:comment "preferred label from MONDO" . _:a533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zone of skin pigmentation disease"; "MONDO:design_pattern", "MONDO:patterns/location" . _:a534d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmentation disease"; "DOID:10123" . _:a537d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79374" . a owl:Class; rdfs:subClassOf ; ; , ; "COHD:4172432", "EFO:0009047", "HP:0000953", "ICD9:709.09", "Orphanet:79375", "SCTID:49765009"; "hyperpigmentation of the skin"; "Orphanet:183466"; ; rdfs:label "Genetic hyperpigmentation of the skin" . _:a53bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4172432"; "MONDO:equivalentTo" . _:a53cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0009047"; "MONDO:equivalentTo" . _:a53ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000953"; "MONDO:otherHierarchy" . _:a540d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:709.09"; "MONDO:relatedTo", "i2s" . _:a542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79375"; "MONDO:equivalentTo" . _:a544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:49765009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.62" . _:a546d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperpigmentation of the skin"; rdfs:comment "preferred label from MONDO" . _:a547d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79375" . a owl:Class; rdfs:subClassOf ; "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections."; ; , , ; "HP:0001010", "MESH:D017496", "MedDRA:10040868", "Orphanet:79376"; "hypopigmentation of the skin", "hypopigmentation of the skin (disease)"; "hypomelanoses", "hypomelanosis"; "Orphanet:183469"; ; rdfs:label "Genetic hypopigmentation of the skin" . _:a54bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections."; "MESH:D017496" . _:a54cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001010"; "MONDO:otherHierarchy", "ontobio" . _:a54fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017496"; "MONDO:equivalentTo" . _:a551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10040868"; "ORDO:79376/e", "Orphanet:79376" . _:a553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79376"; "MONDO:equivalentTo" . _:a556d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypopigmentation of the skin"; "MONDO:ambiguous" . _:a55cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypopigmentation of the skin (disease)"; rdfs:comment "preferred label from MONDO" . _:a55dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomelanoses"; "MESH:D017496" . _:a55ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomelanosis"; "MESH:D017496" . _:a55fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79376" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic dermis disorder", "Genetic dermis disorder"@en; "ORPHA:183472" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic skin vascular disorder" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic mixed dermis disorder" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic subcutaneous tissue disorder" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0015950", "UMLS:CN200547"; "inherited skin tumor"; "genetic skin tumor"; "Orphanet:183487"; ; rdfs:label "Genetic skin tumor" . _:a577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200547"; "MONDO:equivalentTo" . _:a578d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited skin tumor"; rdfs:comment "preferred label from MONDO" . _:a579d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic skin tumor"; "Orphanet:183487" . _:a57ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183487" . a owl:Class; rdfs:subClassOf , ; ; "Genetic skin photosensitivity"@en, "Photogenodermatosis"@en, "Photogénodermatose"@en; "MONDO:0015951"; "Genetic skin photosensitivity", "Photogenodermatosis", "Photogénodermatose", "genetic photodermatosis", "genetic skin photosensitivity"; "Orphanet:183490"; ; rdfs:label "Genetic photodermatosis", "Genetic photodermatosis"@en; "ORPHA:183490" . _:a582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Photogenodermatosis"; "Orphanet:183490" . _:a583d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Photogénodermatose"; "Orphanet:183490" . _:a585d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic photodermatosis"; rdfs:comment "preferred label from MONDO" . _:a588d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic skin photosensitivity"; "Orphanet:183490" . _:a58ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183490" . a owl:Class; rdfs:subClassOf , , ; ; "Orphanet:79391"; "immune deficiency with skin involvement"; "Orphanet:183494"; ; rdfs:label "Genetic immune deficiency with skin involvement" . _:a58cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79391"; "MONDO:equivalentTo" . _:a58ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune deficiency with skin involvement"; rdfs:comment "preferred label from MONDO" . _:a590d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79391" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Genetic neuromuscular disease", "Genetic neuromuscular disease"@en; "ORPHA:183497" . a owl:Class; rdfs:subClassOf , ; "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."; , , , , ; ; "MESH:D020271", "MONDO:0024237", "NCIT:C97073", "UMLS:C3273225", "UMLS:CN200549"; "genetic neurodegenerative disease", "hereditary neurodegenerative disease", "hereditary neurodegenerative disorder", "inherited neurodegenerative disorder"; "Orphanet:183500"; ; rdfs:label "Genetic neurodegenerative disease", "Genetic neurodegenerative disease"@en; "ORPHA:183500" . _:a595d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."; "NCIT:C97073" . _:a596d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C97073" . _:a597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020271"; "MONDO:equivalentTo" . _:a598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97073"; "MONDO:equivalentTo" . _:a599d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3273225"; "MONDO:equivalentTo", "NCIT:C97073" . _:a59ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200549"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:a59bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic neurodegenerative disease"; "MONDO:0015952", "MONDO:patterns/genetic" . _:a59cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary neurodegenerative disease"; "MONDO:patterns/hereditary" . _:a59dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary neurodegenerative disorder"; "NCIT:C97073" . _:a59ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited neurodegenerative disorder"; rdfs:comment "preferred label from MONDO" . _:a59fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183500" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0015953", "UMLS:CN200550"; "genetic central nervous system and retinal vascular disease"; "Orphanet:183503"; ; rdfs:label "Genetic central nervous system and retinal vascular disease" . _:a5a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200550"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a5a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic central nervous system and retinal vascular disease"; rdfs:comment "preferred label from MONDO" . _:a5a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183503" . a owl:Class; rdfs:subClassOf , ; "OMIM:615282", "OMIM:615411", "OMIM:615412", "OMIM:615763", "OMIM:615771"; rdfs:label "Genetic central nervous system malformation", "Genetic central nervous system malformation"@en; "ORPHA:183506" . _:a5abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615763"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a5add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615771"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic headache" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic epilepsy" . a owl:Class; rdfs:subClassOf , ; "OMIM:610185", "OMIM:613227", "OMIM:615268", "UMLS:C0004138"; rdfs:label "Rare hereditary ataxia", "Rare hereditary ataxia"@en; "ORPHA:183518" . _:a5b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004138"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic movement disorder", "Rare genetic movement disorder"@en; "ORPHA:183521" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic bone disease", "Rare genetic bone disease"@en; "ORPHA:183524" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Genetic bone tumor" . a owl:Class; rdfs:subClassOf , ; "ICD10:Q18", "ICD10:Q38"; rdfs:label "Rare genetic developmental defect during embryogenesis", "Rare genetic developmental defect during embryogenesis"@en; "ORPHA:183530" . a owl:Class; rdfs:subClassOf , ; "An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome."; ; "MONDO:0043005"; "genetic multiple congenital anomalies/dysmorphic syndrome", "hereditary multiple congenital anomalies/dysmorphic syndrome"; "Orphanet:183533"; ; rdfs:label "Genetic multiple congenital anomalies/dysmorphic syndrome" . _:a5b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:a5b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic multiple congenital anomalies/dysmorphic syndrome"; rdfs:comment "preferred label from MONDO" . _:a5bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple congenital anomalies/dysmorphic syndrome"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic congenital limb malformation", "Genetic congenital limb malformation"@en; "ORPHA:183536" . a owl:Class; rdfs:subClassOf , , , ; "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux."; , , , ; "DOID:0080205", "MESH:C566906", "OMIM:610805", "OMIMPS:610805", "Orphanet:93545", "UMLS:C1968949"; "CAKUT", "congenital anomalies of kidney and urinary tract", "congenital anomalies of the kidney and urinary tract", "congenital anomaly of kidney and urinary tract", "renal or urinary tract malformation"; "Orphanet:183539"; , ; rdfs:label "Genetic renal or urinary tract malformation" . _:a5c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux."; "DOID:0080205", "PMID:25313840" . _:a5c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080205"; "MONDO:equivalentTo" . _:a5c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566906"; "MONDO:equivalentTo", "MONDO:ontobio" . _:a5cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610805"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a5cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:610805"; "DOID:0080205", "MONDO:cjm", "MONDO:equivalentTo" . _:a5cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93545"; "DOID:0080205", "MONDO:equivalentTo" . _:a5cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1968949"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:93545" . _:a5d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAKUT"; "Orphanet:93545" . _:a5d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomalies of kidney and urinary tract"; "Orphanet:93545" . _:a5d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomalies of the kidney and urinary tract"; "DOID:0080205" . _:a5dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital anomaly of kidney and urinary tract"; rdfs:comment "preferred label from MONDO" . _:a5dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal or urinary tract malformation"; "DOID:0080205" . _:a5ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93545" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic cranial malformation" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:98039"; "digestive tract malformation"; "Orphanet:183545"; ; rdfs:label "Genetic digestive tract malformation", "Genetic digestive tract malformation"@en; "ORPHA:183545" . _:a5e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98039"; "MONDO:equivalentTo" . _:a5e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digestive tract malformation"; rdfs:comment "preferred label from MONDO" . _:a5e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98039" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:98041"; "visceral malformation of the liver, biliary tract, pancreas or spleen"; "Orphanet:183548"; ; rdfs:label "Genetic visceral malformation of the liver, biliary tract, pancreas or spleen" . _:a5e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98041"; "MONDO:equivalentTo" . _:a5e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visceral malformation of the liver, biliary tract, pancreas or spleen"; rdfs:comment "preferred label from MONDO" . _:a5e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98041" . a owl:Class; rdfs:subClassOf , , ; ; "Orphanet:98045"; "respiratory or mediastinal malformation"; "Orphanet:183554"; ; rdfs:label "Genetic respiratory or mediastinal malformation" . _:a5e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98045"; "MONDO:equivalentTo" . _:a5e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "respiratory or mediastinal malformation"; rdfs:comment "preferred label from MONDO" . _:a5ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98045" . a owl:Class; rdfs:subClassOf , , ; ; "Orphanet:98553"; "Anomalie du développement des yeux d'origine génétique", "developmental defect of the eye"; "Orphanet:183557"; ; rdfs:label "Genetic developmental defect of the eye", "Genetic developmental defect of the eye"@en; "ORPHA:183557" . _:a5eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98553"; "MONDO:equivalentTo" . _:a5f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "developmental defect of the eye"; rdfs:comment "preferred label from MONDO" . _:a5f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98553" . a owl:Class; rdfs:subClassOf , ; , , ; "OMIM:616108", "Orphanet:139021", "SCTID:205808005", "UMLS:CN199359"; "congenital malformation syndrome and short stature", "congenital malformation syndrome associated with short stature", "malformation syndrome associated with short stature", "malformation syndrome with short stature"; "Orphanet:183570"; ; rdfs:label "Genetic malformation syndrome with short stature", "Genetic malformation syndrome with short stature"@en; "ORPHA:183570" . _:a5fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616108"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a5fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:139021"; "MONDO:equivalentTo" . _:a5fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:205808005"; "MONDO:equivalentTo" . _:a601d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199359"; "MONDO:equivalentTo" . _:a603d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malformation syndrome with short stature"; rdfs:comment "preferred label from MONDO" . _:a605d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139021" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:139024", "UMLS:CN199360"; "overgrowth/obesity syndrome"; "Orphanet:183573"; ; rdfs:label "Genetic overgrowth/obesity syndrome", "Genetic overgrowth/obesity syndrome"@en; "ORPHA:183573" . _:a608d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:139024"; "MONDO:equivalentTo" . _:a60cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199360"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a60dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "overgrowth/obesity syndrome"; rdfs:comment "preferred label from MONDO" . _:a60ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139024" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:139036", "UMLS:CN199364"; "branchial arch or oral-acral syndrome"; "Orphanet:183576"; ; rdfs:label "Genetic branchial arch or oral-acral syndrome" . _:a611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:139036"; "MONDO:equivalentTo" . _:a613d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199364"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a615d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "branchial arch or oral-acral syndrome"; rdfs:comment "preferred label from MONDO" . _:a617d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139036" . a owl:Class; rdfs:subClassOf , , ; , ; "Orphanet:139042", "UMLS:CN199366"; "malformation syndrome with odontal and/or periodontal component"; "Orphanet:183580"; ; rdfs:label "Genetic malformation syndrome with odontal and/or periodontal component" . _:a619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:139042"; "MONDO:equivalentTo" . _:a61ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199366"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a61dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malformation syndrome with odontal and/or periodontal component"; rdfs:comment "preferred label from MONDO" . _:a61fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:139042" . a owl:Class; rdfs:subClassOf , , ; ; "MONDO:0015961"; "genetic head and neck malformation"; "Orphanet:183583"; ; rdfs:label "Genetic head and neck malformation", "Genetic head and neck malformation"@en; "ORPHA:183583" . _:a622d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic head and neck malformation"; rdfs:comment "preferred label from MONDO" . _:a625d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183583" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Genetic glomerular disease" . a owl:Class; rdfs:subClassOf , , ; "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation."; , , , , , ; "COHD:313800", "GARD:0012465", "ICD10:M31.1", "ICD9:446.6", "MESH:D057049", "MedDRA:10043645", "NCIT:C62605", "Orphanet:93573", "SCTID:126729006", "UMLS:C2717961"; "thrombotic microangiopathy"; "Orphanet:183589"; ; rdfs:label "Genetic thrombotic microangiopathy" . _:a62dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation."; "NCIT:C62605" . _:a62fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:313800"; "MONDO:equivalentTo" . _:a630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012465"; "MONDO:equivalentTo" . _:a631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M31.1"; "MONDO:equivalentTo" . _:a633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:446.6"; "MONDO:equivalentTo", "i2s" . _:a634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D057049"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:93573/e", "Orphanet:93573" . _:a635d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043645"; "ORDO:93573/e", "Orphanet:93573" . _:a636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C62605"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:a637d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93573"; "MONDO:equivalentTo" . _:a638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:126729006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:a63bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2717961"; "MONDO:equivalentTo", "NCIT:C62605", "ORDO:93573/e", "Orphanet:93573" . _:a63dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombotic microangiopathy"; rdfs:comment "preferred label from MONDO" . _:a63ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93573" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015962", "UMLS:CN200561"; "inherited renal tubular disease"; "genetic renal tubular disease"; "Orphanet:183592"; ; rdfs:label "Genetic renal tubular disease", "Genetic renal tubular disease"@en; "ORPHA:183592" . _:a641d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200561"; "MONDO:equivalentTo" . _:a643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited renal tubular disease"; rdfs:comment "preferred label from MONDO" . _:a646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic renal tubular disease"; "Orphanet:183592" . _:a647d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183592" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015963", "UMLS:CN200562"; "inherited renal tumor"; "genetic renal tumor"; "Orphanet:183595"; ; rdfs:label "Genetic renal tumor" . _:a64bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200562"; "MONDO:equivalentTo" . _:a64dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited renal tumor"; rdfs:comment "preferred label from MONDO" . _:a64fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic renal tumor"; "Orphanet:183595" . _:a651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183595" . a owl:Class; rdfs:subClassOf , ; , ; ; "MONDO:0015964", "UMLS:CN200563"; "rare genetic palpebral, lacrimal system and conjunctival disease"; "Orphanet:183598"; , , ; rdfs:label "Rare genetic palpebral, lacrimal system and conjunctival disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:a656d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183598" . _:a658d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200563"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a65ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic palpebral, lacrimal system and conjunctival disease"; rdfs:comment "preferred label from MONDO" . _:a65bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183598" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015965", "UMLS:CN226813"; "rare genetic refraction anomaly"; "Orphanet:183601"; , ; rdfs:label "Rare genetic refraction anomaly"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:a65dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226813"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a66dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic refraction anomaly"; rdfs:comment "preferred label from MONDO" . _:a66ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183601" . a owl:Class; rdfs:subClassOf ; ; ; "Orphanet:98639"; "lens and zonula anomaly"; "Orphanet:183607"; , , ; rdfs:label "Genetic lens and zonula anomaly", "Genetic lens and zonula anomaly"@en; "ORPHA:183607" . _:a672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98639" . _:a673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98639"; "MONDO:equivalentTo" . _:a674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lens and zonula anomaly"; rdfs:comment "preferred label from MONDO" . _:a675d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98639" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:140653", "UMLS:CN199459"; "neuro-ophthalmological disease"; "Orphanet:183616"; ; rdfs:label "Genetic neuro-ophthalmological disease" . _:a678d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:140653"; "MONDO:equivalentTo" . _:a67ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN199459"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a67cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuro-ophthalmological disease"; rdfs:comment "preferred label from MONDO" . _:a682d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:140653" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0015966", "UMLS:CN200566"; "hereditary eye tumor"; "genetic eye tumor"; "Orphanet:183619"; ; rdfs:label "Genetic eye tumor" . _:a694d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200566"; "MONDO:equivalentTo" . _:a695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary eye tumor"; rdfs:comment "preferred label from MONDO" . _:a696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic eye tumor"; "Orphanet:183619" . _:a697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183619" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:182111"; "respiratory malformation"; "Orphanet:183622"; ; rdfs:label "Genetic respiratory malformation" . _:a69cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182111"; "MONDO:equivalentTo" . _:a69dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "respiratory malformation"; rdfs:comment "preferred label from MONDO" . _:a69fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182111" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic diabetes mellitus", "Rare genetic diabetes mellitus"@en; "ORPHA:183625" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0015968", "UMLS:CN200567"; "rare genetic hypothalamic or pituitary disease"; "Orphanet:183628"; , ; rdfs:label "Rare genetic hypothalamic or pituitary disease", "Rare genetic hypothalamic or pituitary disease"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:183628" . _:a6a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200567"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a6a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic hypothalamic or pituitary disease"; rdfs:comment "preferred label from MONDO" . _:a6a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183628" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare genetic thyroid disease", "Rare genetic thyroid disease"@en; "ORPHA:183631" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0015970", "UMLS:CN200569"; "rare genetic parathyroid disease and phosphocalcic metabolism disorder"; "Orphanet:183634"; , ; rdfs:label "Rare genetic parathyroid disease and phosphocalcic metabolism disorder", "Rare genetic parathyroid disease and phosphocalcic metabolism disorder"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:183634" . _:a6afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200569"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a6b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic parathyroid disease and phosphocalcic metabolism disorder"; rdfs:comment "preferred label from MONDO" . _:a6b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183634" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic adrenal disease", "Rare genetic adrenal disease"@en; "ORPHA:183637" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic polyendocrinopathy", "Genetic polyendocrinopathy"@en; "ORPHA:183643" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare constitutional anemia", "Rare constitutional anemia"@en; "ORPHA:183651" . a owl:Class; rdfs:subClassOf , ; "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."; , , , , ; "DOID:2214", "MESH:D025861", "MONDO:0021181", "UMLS:C0852077", "UMLS:CN226819"; "coagulation disorder, hereditary", "coagulation disorder, inherited", "coagulation disorders, hereditary", "coagulation disorders, inherited", "hereditary blood coagulation disease", "hereditary blood coagulation disorders", "hereditary coagulation disorder", "hereditary coagulation disorders", "inherited blood coagulation disorder", "inherited blood coagulation disorders", "inherited coagulation disorder", "inherited coagulation disorders", "rare genetic coagulation disorder"; "inherited blood coagulation disease"; "Orphanet:183654"; ; rdfs:label "Rare genetic coagulation disorder", "Rare genetic coagulation disorder"@en; "ORPHA:183654" . _:a6bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."; "MESH:D025861" . _:a6bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2214"; "MONDO:equivalentTo" . _:a6bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D025861"; "DOID:2214", "MONDO:equivalentTo" . _:a6bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0852077"; "DOID:2214", "MONDO:equivalentTo" . _:a6c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226819"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a6c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation disorder, hereditary"; "MESH:D025861" . _:a6c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation disorder, inherited"; "MESH:D025861" . _:a6c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation disorders, hereditary"; "MESH:D025861" . _:a6c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coagulation disorders, inherited"; "MESH:D025861" . _:a6c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary blood coagulation disease"; "MONDO:patterns/hereditary" . _:a6cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary blood coagulation disorders"; "MESH:D025861" . _:a6cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary coagulation disorder"; "MESH:D025861" . _:a6cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary coagulation disorders"; "MESH:D025861" . _:a6d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited blood coagulation disorder"; rdfs:comment "preferred label from MONDO" . _:a6d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited blood coagulation disorders"; "MESH:D025861" . _:a6d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited coagulation disorder"; "MESH:D025861" . _:a6d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited coagulation disorders"; "MESH:D025861" . _:a6d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic coagulation disorder"; "Orphanet:98429" . _:a6d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited blood coagulation disease"; "DOID:2214" . _:a6dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183654" . a owl:Class; rdfs:subClassOf ; "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells."; ; , , , , , , ; "SCID"@en; "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells."@en; "orphanet", "orphanet"@en; "COHD:29783", "DOID:627", "GARD:0007628", "HP:0004430", "ICD-10:D81.0", "ICD-10:D81.1", "ICD-10:D81.2", "ICD-10:D81.3", "ICD-10:D81.9", "ICD10:D81.0", "ICD10:D81.1", "ICD10:D81.2", "ICD10:D81.3", "ICD10:D81.9", "MESH:D016511", "MONDO:0015974", "MSH:D016511", "MeSH:D016511", "MedDRA:10069566", "NCIT:C3472", "OMIM:615897", "OMIM:616098", "OMIM:617514", "SCTID:31323000", "UMLS:C0085110"; "SCID", "combined T and B cell inborn immunodeficiency", "severe combined immunodeficiency", "severe combined immunodeficiency (disease)", "severe combined immunodeficiency disease"; "Orphanet:183660"; ; rdfs:label "Severe combined immunodeficiency", "Severe combined immunodeficiency"@en; "ORPHA:183660" . _:a6e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells."; "Orphanet:183660" . _:a6e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:29783"; "MONDO:equivalentTo" . _:a6e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:627"; "MONDO:equivalentTo" . _:a6e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007628"; "MONDO:equivalentTo", "Orphanet-shared" . _:a6e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0004430"; "MONDO:otherHierarchy", "ontobio" . _:a6e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.0"; "BTNT (broader term maps to a narrower term)"@en . _:a6e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.0"; "Specific code (The term has its own code in the ICD10)"@en . _:a6e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "BTNT (broader term maps to a narrower term)"@en . _:a6e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "Specific code (The term has its own code in the ICD10)"@en . _:a6ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "BTNT (broader term maps to a narrower term)"@en . _:a6ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Specific code (The term has its own code in the ICD10)"@en . _:a6ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.3"; "BTNT (broader term maps to a narrower term)"@en . _:a6edd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14154; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14154 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.3"; "Specific code (The term has its own code in the ICD10)"@en . _:a6f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.9"; "BTNT (broader term maps to a narrower term)"@en . _:a6f1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14157; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14157 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.9"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:a6f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.0"; "ORDO:183660/btnt", "ORDO:183660/specific", "Orphanet:183660" . _:a6f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.1"; "ORDO:183660/btnt", "ORDO:183660/specific", "Orphanet:183660" . _:a6f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:183660/btnt", "ORDO:183660/specific", "Orphanet:183660" . _:a6f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.3"; "ORDO:183660/btnt", "ORDO:183660/specific", "Orphanet:183660" . _:a6f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.9"; "ORDO:183660/btnt", "ORDO:183660/inclusion", "Orphanet:183660" . _:a6fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016511"; "DOID:627", "MONDO:equivalentTo", "ORDO:183660/e", "Orphanet:183660" . _:a6fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016511"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a6fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069566"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069566"; "ORDO:183660/e", "Orphanet:183660" . _:a701d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3472"; "DOID:627", "MONDO:equivalentTo", "kboom:pr0.83-conf10.15" . _:a703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615897"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a705d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616098"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617514"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a708d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:31323000"; "DOID:627", "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.49/0.20" . _:a70bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085110"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a70cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085110"; "DOID:627", "MONDO:equivalentTo", "NCIT:C3472", "ORDO:183660/e", "Orphanet:183660" . _:a710d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID"; "DOID:627", "NCIT:C3472", "Orphanet:183660" . _:a712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined T and B cell inborn immunodeficiency"; "CSP2005:1560-6660", "DOID:627" . _:a714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency"; "MONDO:ambiguous", "NCIT:C3472" . _:a716d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency (disease)"; "MONDO:0003833" . _:a718d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency (disease)"; rdfs:comment "preferred label from MONDO" . _:a71bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency disease"; "NCIT:C3472" . _:a71fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183660" . a owl:Class; rdfs:subClassOf , ; "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes."; , , , , , , , ; , , , , ; "DOID:2583", "GARD:0007455", "ICD10:D80.1", "ICD9:279.00", "MESH:D000361", "MONDO:0015977", "MSH:D000361", "MedDRA:10001471", "OMIM:612692", "OMIM:613500", "OMIM:613501", "OMIM:613502", "OMIM:613506", "OMIM:615214", "OMIMPS:601495", "UMLS:C0001768"; "IGHM", "agammaglobulinemia", "hypogammaglobulinemia", "mu heavy chain deficiency"; "Gammaglobulin Deficiency", "Immunoglobulin Deficiency", "antibody Deficiency"; "Orphanet:183669"; , ; rdfs:label "Agammaglobulinemia" . _:a726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes."; "NCIT:P378" . _:a729d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2583"; "MONDO:equivalentTo" . _:a72ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007455"; "MONDO:equivalentTo" . _:a72cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.1"; "DOID:2583" . _:a72ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.00"; "DOID:2583" . _:a730d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000361"; "DOID:2583", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:183669/e", "Orphanet:183669" . _:a732d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001471"; "ORDO:183669/e", "Orphanet:183669" . _:a734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:601495"; "MONDO:cjm", "MONDO:equivalentTo" . _:a735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGHM"; "DOID:2583" . _:a737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agammaglobulinemia"; rdfs:comment "preferred label from MONDO" . _:a738d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogammaglobulinemia"; "CSP2005:0449-3787", "DOID:2583", "NCIT:C26931" . _:a739d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mu heavy chain deficiency"; "DOID:2583" . _:a73ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gammaglobulin Deficiency"; "GARD:0007455" . _:a73cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Immunoglobulin Deficiency"; "GARD:0007455" . _:a73ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "antibody Deficiency"; "GARD:0007455" . _:a73fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183669" . a owl:Class; rdfs:subClassOf , ; "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.", "deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections."; , , , ; "IgG subclass deficiency with IgA subclass deficiency"@en, "Isolated IgG subclass deficiency"@en, "Kappa-chain deficiency"@en, "Selective IgG subclass deficiency"@en; "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections."@en; "orphanet", "orphanet"@en; "MESH:C564131", "MONDO:0013576", "OMIM:614102", "UMLS:C0162539", "UMLS:C3279824"; "IgG subclass deficiency with IgA subclass deficiency", "Isolated IgG subclass deficiency", "Kappa-chain deficiency", "Selective IgG subclass deficiency", "isolated IgG subclass deficiency", "kappa-chain deficiency", "recurrent infections associated with rare immunoglobulin isotypes deficiency", "selective IgG subclass deficiency"; "IGKCD", "IMMUNOGLOBULIN kappa LIGHT chain deficiency", "IMMUNOGLOBULIN kappa LIGHT chain deficiency; IGKCD", "kappa chain deficiency"; "Orphanet:183675"; ; rdfs:label "Recurrent infections associated with rare immunoglobulin isotypes deficiency", "Recurrent infections associated with rare immunoglobulin isotypes deficiency"@en; "ORPHA:183675" . _:a745d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections."; "Orphanet:183675" . _:a749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564131"; "MONDO:equivalentTo", "MONDO:ontobio" . _:a74bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614102"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a74dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614102"; "MONDO:equivalentTo", "ORDO:183675/e", "Orphanet:183675" . _:a74ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162539"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a74fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3279824"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a751d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3279824"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614102", "Orphanet:183675" . _:a753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IgG subclass deficiency with IgA subclass deficiency"; "Orphanet:183675" . _:a755d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated IgG subclass deficiency"; "Orphanet:183675" . _:a756d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kappa-chain deficiency"; "Orphanet:183675" . _:a759d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "recurrent infections associated with rare immunoglobulin isotypes deficiency"; rdfs:comment "preferred label from MONDO" . _:a75bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective IgG subclass deficiency"; "Orphanet:183675" . _:a75dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGKCD"; "MONDO:Lexical", "OMIM:614102" . _:a760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMMUNOGLOBULIN kappa LIGHT chain deficiency"; "MONDO:Lexical", "OMIM:614102" . _:a762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMMUNOGLOBULIN kappa LIGHT chain deficiency; IGKCD"; "OMIM:614102" . _:a764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kappa chain deficiency"; "OMIM:614102" . _:a766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183675" . a owl:Class; rdfs:subClassOf , , , , , ; "Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."; , , , , , ; "HPS2"@en, "Hermansky-Pudlak syndrome type 2"@en; "Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."@en; "orphanet", "orphanet"@en; "DOID:0060540", "GARD:0009435", "ICD-10:E70.3", "ICD10:E70.3", "MESH:C537709", "MONDO:0011997", "NCIT:C150368", "OMIM:608233", "UMLS:C1842362"; "AP3B1 Hermansky-Pudlak syndrome", "HPS2", "Hermansky-Pudlak syndrome 2", "Hermansky-Pudlak syndrome caused by mutation in AP3B1", "Hermansky-Pudlak syndrome type 2"; "Hermansky Pudlak syndrome 2", "Hermansky-Pudlak syndrome 2; HPS2", "Hermansky-Pudlak syndrome with neutropenia", "Platelet defects and oculocutaneous albinism"; "Orphanet:183678"; , ; rdfs:label "Hermansky-Pudlak syndrome with neutropenia", "Hermansky-Pudlak syndrome with neutropenia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2"^^xsd:anyURI; "ORPHA:183678" . _:a76cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."; "Orphanet:183678" . _:a76ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060540"; "MONDO:equivalentTo" . _:a770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009435"; "MONDO:equivalentTo" . _:a771d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14218; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14218 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.3"; "Attributed"@en . _:a775d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.3"; "NTBT (narrower term maps to a broader term)"@en . _:a777d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.3"; "MONDO:relatedTo", "ORDO:183678/attributed", "ORDO:183678/ntbt", "Orphanet:183678" . _:a778d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537709"; "MONDO:equivalentTo", "MONDO:ontobio" . _:a779d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C150368"; "MONDO:equivalentTo" . _:a77ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608233"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a77bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608233"; "DOID:0060540", "MONDO:equivalentTo", "ORDO:183678/e", "Orphanet:183678" . _:a77dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1842362"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a77fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1842362"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:608233", "Orphanet:183678" . _:a780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AP3B1 Hermansky-Pudlak syndrome"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:a781d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPS2"; "MONDO:Lexical", "OMIM:608233", "Orphanet:183678" . _:a783d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome 2"; "MONDO:Lexical", "OMIM:608233" . _:a784d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome 2"; rdfs:comment "preferred label from MONDO" . _:a786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome caused by mutation in AP3B1"; "MONDO:design_pattern" . _:a787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome type 2"; "DOID:0060540", "MONDORULE:1", "OMIM:608233", "Orphanet:183678" . _:a788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky Pudlak syndrome 2"; "GARD:0009435" . _:a78ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome 2; HPS2"; "OMIM:608233" . _:a78bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome with neutropenia"; "Orphanet:183678" . _:a78cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Platelet defects and oculocutaneous albinism"; "GARD:0009435" . _:a78dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009435" . _:a790d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183678" . _:a791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2"^^xsd:anyURI; "GARD:0009435" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:D71", "MONDO:0015978", "SCTID:105600002"; "functional neutrophil defect", "neutrophil disease", "neutrophilopathy"; "Orphanet:183681"; ; rdfs:label "Functional neutrophil defect" . _:a796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:105600002"; "MONDO:equivalentTo" . _:a799d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "functional neutrophil defect"; rdfs:comment "preferred label from MONDO" . _:a79cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutrophil disease"; "MONDO:cjm" . _:a79dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutrophilopathy"; "MONDO:cjm" . _:a79fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183681" . a owl:Class; rdfs:subClassOf , ; ; ; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0015979"; "genetic susceptibility to infections due to particular pathogens", "hereditary predisposition to infections"; "Orphanet:183710"; ; rdfs:comment "Editor note: todo logical definition"; rdfs:label "Genetic susceptibility to infections due to particular pathogens", "Genetic susceptibility to infections due to particular pathogens"@en; "ORPHA:183710" . _:a7a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183710" . _:a7a6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14247; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14247 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:a7a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:a7a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:183710/attributed", "ORDO:183710/ntbt", "Orphanet:183710" . _:a7a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic susceptibility to infections due to particular pathogens"; "Orphanet:183710" . _:a7aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary predisposition to infections"; rdfs:comment "preferred label from MONDO" . _:a7add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183710" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic gynecological and obstetrical diseases", "Rare genetic gynecological and obstetrical diseases"@en; "ORPHA:183731" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0015981", "UMLS:CN200581"; "genetic gynecological tumor", "inherited gynecological tumor", "rare genetic female reproductive system tumor"; "Orphanet:183734"; ; rdfs:label "Genetic gynecological tumor", "Genetic gynecological tumor"@en; "ORPHA:183734" . _:a7b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200581"; "MONDO:equivalentTo" . _:a7b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic gynecological tumor"; "Orphanet:183734" . _:a7b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited gynecological tumor"; rdfs:comment "preferred label from MONDO" . _:a7b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic female reproductive system tumor"; "MONDO:cjm" . _:a7b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:183734" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic intellectual disability" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic intellectual disability with developmental anomaly" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic immune disease", "Rare genetic immune disease"@en; "ORPHA:183770" . a owl:Class; rdfs:subClassOf , ; "Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth."; ; , , , ; "Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth."@en; "orphanet", "orphanet"@en; "DOID:0080200", "ICD-10:Q60.1", "ICD10:Q60.1", "MONDO:0015986", "MSH:C536482", "MeSH:C536482", "NCIT:C101219", "OMIM:191830", "OMIM:617805", "UMLS:C1609433"; "bilateral renal agenesis"; "bilateral renal aplasia", "renal agenesis, bilateral"; "Orphanet:1848"; ; rdfs:label "Bilateral renal agenesis", "Renal agenesis, bilateral"@en; "ORPHA:1848" . _:a7bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth."; "Orphanet:1848" . _:a7bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080200"; "MONDO:equivalentTo" . _:a7bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7bfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14262; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.1"; "Specific code (The term has its own code in the ICD10)"@en . _:a7c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q60.1"; "MONDO:equivalentTo", "ORDO:1848/e", "ORDO:1848/specific", "Orphanet:1848" . _:a7c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536482"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C101219"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.78/0.38/0.83" . _:a7cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:191830"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617805"; "NTBT (narrower term maps to a broader term)"@en . _:a7ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1609433"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bilateral renal agenesis"; rdfs:comment "preferred label from MONDO" . _:a7ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bilateral renal aplasia"; "DOID:0080200" . _:a7cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal agenesis, bilateral"; "Orphanet:1848" . _:a7d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1848" . a owl:Class; rdfs:subClassOf , ; "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging."; , , , , ; "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging."@en; "orphanet"@en; "GARD:0003005", "MESH:C535528", "MONDO:0010971", "OMIM:600989", "SCTID:725905005", "UMLS:C1832949"; "infundibulopelvic stenosis-multicystic kidney syndrome"; "infundibulopelvic dysgenesis"; "Orphanet:1849"; ; rdfs:label "Infundibulopelvic stenosis - multicystic kidney", "Infundibulopelvic stenosis-multicystic kidney syndrome"@en; "ORPHA:1849" . _:a7d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging."; "Orphanet:1849" . _:a7d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003005"; "MONDO:equivalentTo", "OMIM-shared" . _:a7d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535528"; "MONDO:equivalentTo", "MONDO:ontobio" . _:a7dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600989"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600989"; "MONDO:equivalentTo", "ORDO:1849/e", "Orphanet:1849" . _:a7dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725905005"; "MONDO:equivalentTo" . _:a7ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832949"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832949"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:600989", "Orphanet:1849" . _:a7e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infundibulopelvic stenosis-multicystic kidney syndrome"; rdfs:comment "preferred label from MONDO" . _:a7e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infundibulopelvic dysgenesis"; "OMIM:600989" . _:a7e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1849" . a owl:Class; rdfs:subClassOf , , ; "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional."; , , , , , ; "MCDK"@en, "Multicystic renal dysplasia"@en; "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional."@en; "orphanet", "orphanet"@en; "ICD-10:Q61.4", "ICD10:Q61.4", "ICD9:753.19", "MESH:D021782", "MONDO:0015988", "MSH:D021782", "MeSH:D021782", "NCIT:C123031", "OMIM:601331", "SCTID:204962002", "UMLS:C0345335", "UMLS:C3714581"; "MCDK", "Multicystic renal dysplasia", "multicystic dysplastic kidney", "multicystic renal dysplasia"; "Orphanet:1851"; ; rdfs:label "Multicystic dysplastic kidney", "Multicystic dysplastic kidney"@en; "ORPHA:1851" . _:a7e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional."; "Orphanet:1851" . _:a7ead a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14286; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14286 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.4"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:a7ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.4"; "NTBT (narrower term maps to a broader term)"@en . _:a7edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.4"; "ORDO:1851/inclusion", "ORDO:1851/ntbt", "Orphanet:1851" . _:a7efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:753.19"; "MONDO:relatedTo", "i2s" . _:a7f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D021782"; "MONDO:equivalentTo", "ORDO:1851/e", "Orphanet:1851" . _:a7f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D021782"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123031"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:a7f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:204962002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.42/0.43" . _:a7f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345335"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3714581"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a7f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3714581"; "MONDO:equivalentTo", "NCIT:C123031", "Orphanet:1851" . _:a7f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCDK"; "Orphanet:1851" . _:a7f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicystic dysplastic kidney"; rdfs:comment "preferred label from MONDO" . _:a7fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicystic renal dysplasia"; "Orphanet:1851" . _:a7fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1851" . a owl:Class; rdfs:subClassOf ; "Hanot syndrome"@en, "PBC"@en, "Primary biliary cirrhosis"@en; "Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure."@en; "orphanet"@en; "ICD-10:K74.3", "MedDRA:10004661", "MedDRA:10019137", "OMIM:109720", "OMIM:613007", "OMIM:613008", "OMIM:614220", "OMIM:614221", "UMLS:C0008312", "UMLS:C0859942"; rdfs:label "Primary biliary cholangitis"@en; "ORPHA:186" . _:a7ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K74.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a801d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10004661"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a803d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019137"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a805d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:109720"; "BTNT (broader term maps to a narrower term)"@en . _:a806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613007"; "BTNT (broader term maps to a narrower term)"@en . _:a808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613008"; "BTNT (broader term maps to a narrower term)"@en . _:a80cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614220"; "BTNT (broader term maps to a narrower term)"@en . _:a80dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614221"; "BTNT (broader term maps to a narrower term)"@en . _:a80fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008312"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0859942"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.", "Focal dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions."; ; "Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions."@en; "orphanet", "orphanet"@en; "ICD-10:G24.3", "ICD-10:G24.4", "ICD-10:G24.5", "ICD-10:G24.8", "ICD10:G24.3", "ICD10:G24.4", "ICD10:G24.5", "ICD10:G24.8", "MONDO:0015990"; "focal, segmental or multifocal dystonia"; "Orphanet:1866"; ; rdfs:comment "Editor note: consider obsoleting. See https://github.com/Orphanet/ORDO/issues/12"; rdfs:label "Focal, segmental or multifocal dystonia", "Focal, segmental or multifocal dystonia"@en; "ORPHA:1866" . _:a814d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Focal dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions."; "Orphanet:1866" . _:a815d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14313; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14313 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.3"; "Attributed"@en . _:a818d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.3"; "NTBT (narrower term maps to a broader term)"@en . _:a81ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.4"; "Attributed"@en . _:a81cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.4"; "NTBT (narrower term maps to a broader term)"@en . _:a81ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.5"; "Attributed"@en . _:a820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.5"; "NTBT (narrower term maps to a broader term)"@en . _:a821d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.8"; "Attributed"@en . _:a824d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.8"; "NTBT (narrower term maps to a broader term)"@en . _:a825d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.3"; "ORDO:1866/attributed", "ORDO:1866/ntbt", "Orphanet:1866" . _:a827d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.4"; "ORDO:1866/attributed", "ORDO:1866/ntbt", "Orphanet:1866" . _:a829d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.5"; "MONDO:relatedTo", "ORDO:1866/attributed", "ORDO:1866/ntbt", "Orphanet:1866" . _:a82cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.8"; "ORDO:1866/attributed", "ORDO:1866/ntbt", "Orphanet:1866" . _:a82dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "focal, segmental or multifocal dystonia"; rdfs:comment "preferred label from MONDO" . _:a831d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1866" . a owl:Class; rdfs:subClassOf , ; "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms)."; , ; , , , , , ; "DOID:9273", "ICD10:E72.2", "ICD10:E72.23", "MESH:D020159", "MONDO:0015991", "MSH:D020159", "NCIT:C84639", "SCTID:124711003", "UMLS:C0175683"; "citrullinemia", "deficiency of citrulline-aspartate ligase"; "ass deficiency"; "Orphanet:187"; ; rdfs:label "Citrullinemia" . _:a835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms)."; "Orphanet:187" . _:a837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9273"; "MONDO:equivalentTo" . _:a839d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.2"; "ORDO:187/inclusion", "ORDO:187/ntbt", "Orphanet:187" . _:a83bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.23"; "DOID:9273", "MONDO:equivalentTo" . _:a83dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020159"; "DOID:9273", "MONDO:equivalentTo", "ORDO:187/e", "Orphanet:187" . _:a840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84639"; "DOID:9273", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:a841d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124711003"; "DOID:9273", "MONDO:equivalentTo", "MONDO:kboom-pr-0.69/0.37/0.07" . _:a842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175683"; "DOID:9273", "MONDO:equivalentTo", "NCIT:C84639", "ORDO:187/e", "Orphanet:187" . _:a843d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "citrullinemia"; rdfs:comment "preferred label from MONDO" . _:a844d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of citrulline-aspartate ligase"; "DOID:9273" . _:a845d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ass deficiency"; "CSP2005:1849-9492", "DOID:9273" . _:a846d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:187" . a owl:Class; rdfs:subClassOf , ; "Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies."; , ; "Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies."@en; "orphanet"@en; "DOID:0050572", "GARD:0010790", "ICD-10:H35.5", "ICD10:H35.5", "MONDO:0015993", "OMIM:120970", "OMIM:300476", "OMIM:300834", "OMIM:303700", "OMIM:304020", "OMIM:600624", "OMIM:600977", "OMIM:601777", "OMIM:602093", "OMIM:603649", "OMIM:604116", "OMIM:604393", "OMIM:605549", "OMIM:608194", "OMIM:610283", "OMIM:610381", "OMIM:610478", "OMIM:612657", "OMIM:612775", "OMIM:613093", "OMIM:613660", "OMIM:614500", "OMIM:615163", "OMIM:615374", "OMIM:615860", "OMIM:615973", "OMIM:616502", "OMIM:617236"; "cone-rod dystrophy", "cone-rod retinal dystrophy"; "cone rod dystrophy"; "Orphanet:1872"; ; rdfs:label "Cone rod dystrophy", "Cone rod dystrophy"@en; "ORPHA:1872" . _:a851d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies."; "Orphanet:1872" . _:a853d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050572"; "MONDO:equivalentTo" . _:a854d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010790"; "MONDO:equivalentTo", "Orphanet-shared" . _:a856d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14343; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14343 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "Attributed"@en . _:a857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "NTBT (narrower term maps to a broader term)"@en . _:a858d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "DOID:0050572", "MONDO:relatedTo", "ORDO:1872/attributed", "ORDO:1872/ntbt", "Orphanet:1872" . _:a859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:120970"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a85bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300476"; "BTNT (broader term maps to a narrower term)"@en . _:a85cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300834"; "BTNT (broader term maps to a narrower term)"@en . _:a85ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:303700"; "NTBT (narrower term maps to a broader term)"@en . _:a860d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:304020"; "BTNT (broader term maps to a narrower term)"@en . _:a861d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600624"; "BTNT (broader term maps to a narrower term)"@en . _:a863d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600977"; "BTNT (broader term maps to a narrower term)"@en . _:a865d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601777"; "BTNT (broader term maps to a narrower term)"@en . _:a866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602093"; "NTBT (narrower term maps to a broader term)"@en . _:a868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603649"; "BTNT (broader term maps to a narrower term)"@en . _:a869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604116"; "BTNT (broader term maps to a narrower term)"@en . _:a86ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604393"; "NTBT (narrower term maps to a broader term)"@en . _:a86cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605549"; "BTNT (broader term maps to a narrower term)"@en . _:a86ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608194"; "BTNT (broader term maps to a narrower term)"@en . _:a86fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610283"; "BTNT (broader term maps to a narrower term)"@en . _:a870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610381"; "BTNT (broader term maps to a narrower term)"@en . _:a871d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610478"; "BTNT (broader term maps to a narrower term)"@en . _:a872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612657"; "BTNT (broader term maps to a narrower term)"@en . _:a873d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612775"; "BTNT (broader term maps to a narrower term)"@en . _:a874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613660"; "BTNT (broader term maps to a narrower term)"@en . _:a875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614500"; "BTNT (broader term maps to a narrower term)"@en . _:a876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615163"; "BTNT (broader term maps to a narrower term)"@en . _:a879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615374"; "BTNT (broader term maps to a narrower term)"@en . _:a87bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615860"; "BTNT (broader term maps to a narrower term)"@en . _:a87cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615860"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a87dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615973"; "BTNT (broader term maps to a narrower term)"@en . _:a87fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615973"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a880d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616502"; "BTNT (broader term maps to a narrower term)"@en . _:a882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616502"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a885d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cone-rod dystrophy"; rdfs:comment "preferred label from MONDO" . _:a886d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cone-rod retinal dystrophy"; "DOID:0050572" . _:a888d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cone rod dystrophy"; "Orphanet:1872" . _:a889d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1872" . a owl:Class; rdfs:subClassOf ; "Capillary hyperpermeability syndrome"@en, "Capillary leak syndrome"@en, "Clarkson disease"@en, "Idiopathic capillary leak syndrome"@en, "SCLS"@en; "Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia."@en; "orphanet"@en; "ICD-10:I78.8", "MeSH:D019559", "MedDRA:10007196", "UMLS:C0343084"; rdfs:label "Systemic capillary leak syndrome"@en; "ORPHA:188" . _:a88dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I78.8"; "NTBT (narrower term maps to a broader term)"@en . _:a88ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D019559"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a88fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10007196"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0343084"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Ebstein anomaly of the tricuspid valve"@en; "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction."@en; "orphanet"@en; "ICD-10:Q22.5", "MedDRA:10014075", "OMIM:224700", "UMLS:C0013481"; rdfs:label "Ebstein malformation"@en; "ORPHA:1880" . _:a891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q22.5"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a892d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14385; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14385 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q22.5"; "Specific code (The term has its own code in the ICD10)"@en . _:a895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10014075"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a896d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:224700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a897d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013481"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:E20.8", "ICD10:E20.8", "MONDO:0016000", "OMIM:146200", "UMLS:CN200646"; "familial isolated hypoparathyroidism due to impaired PTH secretion"; "Orphanet:189466"; ; rdfs:label "Familial isolated hypoparathyroidism due to impaired PTH secretion", "Familial isolated hypoparathyroidism due to impaired PTH secretion"@en; "ORPHA:189466" . _:a899d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14390; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14390 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "Attributed"@en . _:a89bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "NTBT (narrower term maps to a broader term)"@en . _:a89dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.8"; "ORDO:189466/attributed", "ORDO:189466/ntbt", "Orphanet:189466" . _:a89ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146200"; "NTBT (narrower term maps to a broader term)"@en . _:a89fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200646"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:a8a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial isolated hypoparathyroidism due to impaired PTH secretion"; rdfs:comment "preferred label from MONDO" . _:a8a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:189466" . a owl:Class; rdfs:subClassOf , , , , , , ; "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)."; , ; , , , , , , ; "Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome"@en; "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)."@en; "orphanet", "orphanet"@en; "DC:0000689", "DOID:0060782", "GARD:0002076", "ICD-10:Q82.4", "ICD10:Q82.4", "MONDO:0010004", "NCIT:C148261", "OMIM:129900", "OMIM:268650", "OMIM:604292", "SCTID:39788007", "UMLS:C0406704", "UMLS:C1851841", "UMLS:CN776907"; "EEC syndrome", "Ectrodactyly - ectodermal dysplasia - cleft lip/palate", "Rudiger syndrome 1", "Walker-Clodius syndrome", "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft syndrome", "ectrodactyly-ectodermal dysplasia-clefting syndrome"; "RUDIGER syndrome", "ectrodactyly-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate", "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome"; "Orphanet:1896"; , ; rdfs:label "EEC syndrome", "EEC syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome"^^xsd:anyURI; "ORPHA:1896" . _:a8a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)."; "Orphanet:1896" . _:a8a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000689"; "MONDO:equivalentTo" . _:a8a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060782"; "MONDO:equivalentTo" . _:a8aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002076"; "MONDO:equivalentTo" . _:a8add a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14402; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.4"; "Attributed"@en . _:a8afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.4"; "NTBT (narrower term maps to a broader term)"@en . _:a8b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.4"; "DOID:0060782", "ORDO:1896/attributed", "ORDO:1896/ntbt", "Orphanet:1896" . _:a8b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C148261"; "MONDO:equivalentTo" . _:a8b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:129900"; "BTNT (broader term maps to a narrower term)"@en . _:a8b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:268650"; "MONDO:equivalentTo" . _:a8b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604292"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a8b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:39788007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:a8bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0406704"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a8bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0406704"; "DOID:0060782", "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:268650", "ORDO:1896/e", "Orphanet:1896" . _:a8c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1851841"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a8c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776907"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:a8c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EEC syndrome"; rdfs:comment "preferred label from MONDO" . _:a8c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rudiger syndrome 1"; "DOID:0060782" . _:a8c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Walker-Clodius syndrome"; "DOID:0060782" . _:a8cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome"; "DOID:0060782" . _:a8cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome"; "Orphanet:1896" . _:a8cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly-ectodermal dysplasia-cleft syndrome"; "NCIT:C148261" . _:a8d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly-ectodermal dysplasia-clefting syndrome"; "DOID:0060782" . _:a8d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RUDIGER syndrome"; "OMIM:268650" . _:a8d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly-cleft lip/palate syndrome"; "GARD:0002076" . _:a8d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate"; "GARD:0002076" . _:a8e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome"; "GARD:0002076" . _:a8e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002076" . _:a8e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1896" . _:a8e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome"^^xsd:anyURI; "GARD:0002076" . a owl:Class; rdfs:subClassOf , , , ; "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung."; , , , , , , ; ; "Congenital lobar hyperinflation"@en, "Infantile lobar hyperinflation"@en; "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung."@en; "orphanet", "orphanet"@en; "GARD:0002104", "ICD-10:Q33.8", "ICD10:Q33.8", "MESH:C535735", "MONDO:0007536", "MSH:C535735", "MeSH:C535735", "MedDRA:10010456", "NCIT:C98895", "OMIM:130710", "SCTID:66987001", "UMLS:C0265797"; "Congenital lobar hyperinflation", "Infantile lobar hyperinflation", "congenital lobar emphysema", "congenital lobar hyperinflation", "infantile lobar hyperinflation"; "CLE", "emphysema, congenital lobar", "emphysema, congenital lobar; CLE"; "Orphanet:1928"; ; rdfs:label "Congenital lobar emphysema", "Congenital lobar emphysema"@en; "ORPHA:1928" . _:a8f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung."; "Orphanet:1928" . _:a8f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1928" . _:a8f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002104"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:a8f9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14432; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q33.8"; "Attributed"@en . _:a8fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q33.8"; "NTBT (narrower term maps to a broader term)"@en . _:a8fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q33.8"; "ORDO:1928/attributed", "ORDO:1928/ntbt", "Orphanet:1928" . _:a8fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535735"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:1928/e", "Orphanet:1928" . _:a8fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535735"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a8fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010456"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a8ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010456"; "ORDO:1928/e", "Orphanet:1928" . _:a900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98895"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.95/0.86/1.06" . _:a901d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:130710"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a902d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:130710"; "MONDO:equivalentTo", "ORDO:1928/e", "Orphanet:1928" . _:a904d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:66987001"; "MONDO:equivalentTo" . _:a905d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265797"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a907d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265797"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C98895", "OMIM:130710", "ORDO:1928/e", "Orphanet:1928" . _:a90ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lobar emphysema"; rdfs:comment "preferred label from MONDO" . _:a90bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lobar hyperinflation"; "Orphanet:1928" . _:a90cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile lobar hyperinflation"; "Orphanet:1928" . _:a90ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLE"; "MONDO:Lexical", "OMIM:130710" . _:a910d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "emphysema, congenital lobar"; "MONDO:Lexical", "OMIM:130710" . _:a911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "emphysema, congenital lobar; CLE"; "OMIM:130710" . _:a913d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1928" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity."; , , , , , , ; "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity."@en; "orphanet", "orphanet"@en; "GARD:0006126", "ICD-10:Q87.8", "ICD10:Q87.8", "ICD9:759.89", "MESH:C536438", "MONDO:0008999", "MSH:C536438", "MeSH:C536438", "MedDRA:10049066", "OMIM:216550", "SCTID:56604005", "UMLS:C0265223", "UMLS:C1854061"; "Cohen syndrome", "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness"; "COH1", "Chs1", "Chs1, formerly", "Coh", "Cohen syndrome; COH1", "hypotonia, obesity, and prominent incisors", "pepper syndrome"; "Orphanet:193"; , , ; rdfs:label "Cohen syndrome", "Cohen syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome"^^xsd:anyURI; "ORPHA:193" . _:a91cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity."; "Orphanet:193" . _:a91ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006126"; "MONDO:equivalentTo" . _:a91fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14455; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14455 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:a921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:a922d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:193/attributed", "ORDO:193/ntbt", "Orphanet:193" . _:a924d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:a928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536438"; "MONDO:equivalentTo", "ORDO:193/e", "Orphanet:193" . _:a92bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536438"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a92dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049066"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a92fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049066"; "ORDO:193/e", "Orphanet:193" . _:a931d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:216550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a932d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:216550"; "MONDO:equivalentTo", "ORDO:193/e", "Orphanet:193" . _:a933d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:56604005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:a934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265223"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1854061"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:a936d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cohen syndrome"; "MONDO:Lexical", "OMIM:216550" . _:a938d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cohen syndrome"; rdfs:comment "preferred label from MONDO" . _:a939d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness"; "OMIM:216550" . _:a93bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COH1"; "MONDO:Lexical", "OMIM:216550" . _:a93dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chs1"; "OMIM:216550" . _:a93fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chs1, formerly"; "OMIM:216550" . _:a941d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Coh"; "OMIM:216550" . _:a943d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cohen syndrome; COH1"; "OMIM:216550" . _:a944d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypotonia, obesity, and prominent incisors"; "OMIM:216550" . _:a946d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pepper syndrome"; "OMIM:216550" . _:a947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006126" . _:a949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:193" . _:a94cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome"^^xsd:anyURI; "GARD:0006126" . a owl:Class; rdfs:subClassOf , , , , ; "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.", "Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal."; , ; , , ; , ; "HSE"@en, "HSV encephalitis"@en, "HSVE"@en, "Herpes simplex meningo-encephalitis"@en, "Herpes simplex neuroinvasion"@en, "Herpetic encephalitis"@en; "Herpes simplex virus encephalitis (HSVE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSVE often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness."@en; "orphanet", "orphanet"@en; "GARD:0006649", "ICD-10:B00.4+", "ICD-10:G05.1*", "ICD10:B00.4+", "ICD10:G05.1*", "MESH:D020803", "MONDO:0012521", "NCIT:C84762", "OMIM:610551", "OMIM:613002", "OMIM:614849", "OMIM:614850", "OMIM:616532", "OMIM:617900", "UMLS:C0019385", "UMLS:C0276226"; "HSE", "HSV encephalitis", "HSVE", "Herpes simplex encephalitis", "Herpes simplex meningo-encephalitis", "Herpes simplex neuroinvasion", "Simplexvirus caused infectious encephalitis", "Simplexvirus infectious encephalitis", "herpes simplex encephalitis", "herpetic encephalitis"; "Herpes simplex virus encephalitis"; "Orphanet:1930"; , ; rdfs:label "Herpes simplex virus encephalitis"@en, "Herpetic encephalitis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis"^^xsd:anyURI; "ORPHA:1930" . _:a951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness."; "Orphanet:1930" . _:a952d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1930" . _:a953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1930" . _:a954d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006649"; "MONDO:equivalentTo" . _:a956d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B00.4+"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a958d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B00.4+"; "Specific code (The term has its own code in the ICD10)"@en . _:a95ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G05.1*"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a95bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14489; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14489 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G05.1*"; "Specific code (The term has its own code in the ICD10)"@en . _:a95ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:B00.4+"; "ORDO:1930/e", "ORDO:1930/specific", "Orphanet:1930" . _:a960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G05.1*"; "ORDO:1930/e", "ORDO:1930/specific", "Orphanet:1930" . _:a965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020803"; "MONDO:equivalentTo", "MONDO:ontobio" . _:a966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84762"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:a968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610551"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613002"; "BTNT (broader term maps to a narrower term)"@en . _:a96cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614849"; "BTNT (broader term maps to a narrower term)"@en . _:a96ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614850"; "BTNT (broader term maps to a narrower term)"@en . _:a96fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616532"; "BTNT (broader term maps to a narrower term)"@en . _:a971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616532"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a972d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617900"; "BTNT (broader term maps to a narrower term)"@en . _:a974d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019385"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a977d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0276226"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSE"; "Orphanet:1930" . _:a97ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSV encephalitis"; "Orphanet:1930" . _:a97cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSVE"; "Orphanet:1930" . _:a97dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpes simplex meningo-encephalitis"; "Orphanet:1930" . _:a97fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpes simplex neuroinvasion"; "Orphanet:1930" . _:a982d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Simplexvirus caused infectious encephalitis"; "MONDO:patterns/specific_infectious_disease_by_agent" . _:a983d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "herpes simplex encephalitis"; rdfs:comment "preferred label from MONDO" . _:a984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "herpetic encephalitis"; "Orphanet:1930" . _:a985d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Herpes simplex virus encephalitis"; "Orphanet:1930" . _:a986d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006649" . _:a987d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1930" . _:a98ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis"^^xsd:anyURI; "GARD:0006649" . a owl:Class; rdfs:subClassOf , , , , , ; "Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death."; , , , , , ; , , , , , , ; ; "EIEE"@en, "Early infantile epileptic encephalopathy with suppression-bursts"@en, "Ohtahara syndrome"@en; "Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death."@en; "orphanet", "orphanet"@en; "DOID:0050709", "DOID:2481", "EFO:1000643", "GARD:0009255", "ICD-10:G40.3", "ICD10:G40.3", "ICD10:G40.82", "ICD9:345.10", "ICD9:345.6", "MONDO:0016021", "MedDRA:10071545", "NCIT:C122814", "OMIM:300672", "OMIM:308350", "OMIM:609304", "OMIM:612164", "OMIM:613402", "OMIM:613477", "OMIM:613720", "OMIM:613721", "OMIM:614558", "OMIM:615473", "OMIM:615833", "OMIM:615859", "OMIM:615871", "OMIM:615905", "OMIM:616056", "OMIM:616211", "OMIM:616339", "OMIM:616341", "OMIM:616346", "OMIM:616366", "OMIM:616409", "OMIM:616645", "OMIM:616647", "OMIM:616981", "OMIM:617020", "OMIM:617105", "OMIM:617106", "OMIM:617113", "OMIM:617132", "OMIM:617153", "OMIM:617162", "OMIM:617166", "OMIM:617276", "OMIM:617281", "OMIM:617339", "OMIM:617350", "OMIM:617389", "OMIM:617391", "OMIM:617493", "OMIM:617599", "OMIM:617665", "OMIM:617771", "OMIM:617829", "OMIM:617830", "OMIM:617904", "OMIM:617929", "OMIM:617933", "OMIM:617938", "OMIM:617976", "OMIM:618004", "OMIM:618012", "OMIMPS:308350", "SCTID:230429005", "UMLS:C0393706"; "EIEE", "Early infantile epileptic encephalopathy with suppression-bursts", "Ohtahara syndrome", "early infantile epileptic encephalopathy", "early infantile epileptic encephalopathy with burst-suppression", "early infantile epileptic encephalopathy with suppression-bursts", "epileptic encephalopathy, early infantile", "epileptic encephalopathy, early infantile, 15", "epileptic encephalopathy, infantile", "infantile epileptic encephalopathy", "infantile spasm"; "Orphanet:1934"; , ; rdfs:comment "Editor note: in ORDO this is classified as ARX-related despite this encompassing multiple OMIMs with different etiologies"; rdfs:label "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy"@en; "ORPHA:1934" . _:a9a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death."; "Orphanet:1934" . _:a9a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1934" . _:a9a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050709"; "MONDO:equivalentTo" . _:a9a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2481"; "EFO:1000643", "MONDO:equivalentTo" . _:a9a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1000643"; "MONDO:equivalentTo" . _:a9abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009255"; "MONDO:equivalentTo", "Orphanet-shared" . _:a9afd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14522; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.3"; "Attributed"@en . _:a9b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.3"; "NTBT (narrower term maps to a broader term)"@en . _:a9b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.3"; "ORDO:1934/attributed", "ORDO:1934/ntbt", "Orphanet:1934" . _:a9b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.82"; "DOID:2481" . _:a9b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.10"; "MONDO:relatedTo", "i2s" . _:a9b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.6"; "DOID:2481" . _:a9bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071545"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a9bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071545"; "ORDO:1934/e", "Orphanet:1934" . _:a9bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122814"; "MONDO:equivalentTo" . _:a9bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300672"; "BTNT (broader term maps to a narrower term)"@en . _:a9bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308350"; "BTNT (broader term maps to a narrower term)"@en . _:a9c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609304"; "BTNT (broader term maps to a narrower term)"@en . _:a9c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612164"; "BTNT (broader term maps to a narrower term)"@en . _:a9c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613402"; "BTNT (broader term maps to a narrower term)"@en . _:a9cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613721"; "BTNT (broader term maps to a narrower term)"@en . _:a9cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615473"; "BTNT (broader term maps to a narrower term)"@en . _:a9ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615833"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615859"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615871"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615905"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616056"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616211"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616339"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616341"; "BTNT (broader term maps to a narrower term)"@en . _:a9d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616341"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616346"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616366"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616409"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616981"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617020"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617105"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617106"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617113"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617132"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617153"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617162"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617166"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617276"; "BTNT (broader term maps to a narrower term)"@en . _:a9e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617350"; "BTNT (broader term maps to a narrower term)"@en . _:a9e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617389"; "BTNT (broader term maps to a narrower term)"@en . _:a9e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617389"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617391"; "BTNT (broader term maps to a narrower term)"@en . _:a9ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617391"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617493"; "BTNT (broader term maps to a narrower term)"@en . _:a9edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617493"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617599"; "BTNT (broader term maps to a narrower term)"@en . _:a9f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617599"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617665"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:a9f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:308350"; "MONDO:equivalentTo", "MONDO:pnr" . _:a9f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230429005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/6.21" . _:a9fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0393706"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:a9fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EIEE"; "Orphanet:1934" . _:a9fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ohtahara syndrome"; "MONDO:0000418", "Orphanet:1934" . _:aa00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early infantile epileptic encephalopathy"; "DOID:0050709" . _:aa02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early infantile epileptic encephalopathy"; rdfs:comment "preferred label from MONDO" . _:aa04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early infantile epileptic encephalopathy with burst-suppression"; "DOID:0050709" . _:aa06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early infantile epileptic encephalopathy with suppression-bursts"; "Orphanet:1934" . _:aa07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epileptic encephalopathy, early infantile"; "DOID:2481" . _:aa09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epileptic encephalopathy, early infantile, 15"; "DOID:0050709" . _:aa0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epileptic encephalopathy, infantile"; "DOID:2481" . _:aa0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile epileptic encephalopathy"; "MONDO:0006508" . _:aa0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile spasm"; "DOID:2481" . _:aa0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1934" . a owl:Class; rdfs:subClassOf , , ; , ; ; "MONDO:0016023", "OMIM:120200", "OMIM:216820", "UMLS:C0009363"; "ocular coloboma"; "Orphanet:194"; ; rdfs:comment "Editor note: todo merge"; rdfs:label "Ocular coloboma" . _:aa15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:194" . _:aa19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:216820"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:aa1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ocular coloboma"; rdfs:comment "preferred label from MONDO" . _:aa1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:194" . a owl:Class; rdfs:subClassOf , , , , , ; "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal."; , , , , , ; "CES"@en; "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal."@en; "orphanet"@en; "GARD:0000026", "ICD-10:Q92.8", "ICD10:Q92.8", "MESH:C535918", "MONDO:0007276", "MSH:C535918", "MeSH:C535918", "NCIT:C75477", "OMIM:115470", "SCTID:26445008", "UMLS:C0265493"; "CES", "Chromosome 22 inversion/duplication", "Ocular coloboma - imperforate anus", "cat-eye syndrome"; "CAT eye syndrome", "CAT eye syndrome; CES", "Inv dup(22)(q11)", "Schmid-Fraccaro syndrome", "chromosome 22 partial tetrasomy"; "Orphanet:195"; , ; rdfs:label "Cat-eye syndrome", "Cat-eye syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome"^^xsd:anyURI; "ORPHA:195" . _:aa24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal."; "Orphanet:195" . _:aa29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000026"; "MONDO:equivalentTo" . _:aa2ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14592; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q92.8"; "Attributed"@en . _:aa2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q92.8"; "NTBT (narrower term maps to a broader term)"@en . _:aa30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q92.8"; "ORDO:195/attributed", "ORDO:195/ntbt", "Orphanet:195" . _:aa33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535918"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:195/e", "Orphanet:195" . _:aa34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535918"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aa36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75477"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:aa38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115470"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aa39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115470"; "MONDO:equivalentTo", "ORDO:195/e", "Orphanet:195" . _:aa3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:26445008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.64" . _:aa3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265493"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aa3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265493"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C75477", "OMIM:115470", "ORDO:195/e", "Orphanet:195" . _:aa41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CES"; "MONDO:Lexical", "OMIM:115470", "Orphanet:195" . _:aa42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cat-eye syndrome"; rdfs:comment "preferred label from MONDO" . _:aa43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAT eye syndrome"; "MONDO:Lexical", "OMIM:115470" . _:aa45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAT eye syndrome; CES"; "OMIM:115470" . _:aa46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inv dup(22)(q11)"; "OMIM:115470" . _:aa49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schmid-Fraccaro syndrome"; "OMIM:115470" . _:aa4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 22 partial tetrasomy"; "OMIM:115470" . _:aa4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000026" . _:aa4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:195" . _:aa4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome"^^xsd:anyURI; "GARD:0000026" . a owl:Class; rdfs:subClassOf ; "Autoimmune hemolytic anemia and autoimmune thrombocytopenia"@en, "Immune pancytopenia"@en; "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) (see these terms) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology."@en; "orphanet"@en; "ICD-10:D69.3", "MedDRA:10053873", "UMLS:C0272126"; rdfs:label "Evans syndrome"@en; "ORPHA:1959" . _:aa52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.3"; "NTBT (narrower term maps to a broader term)"@en . _:aa54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053873"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aa56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0272126"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."; , , ; "Congenital short femur"@en, "Femoral intercalary meromelia"@en; "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."@en; "orphanet", "orphanet"@en; "GARD:0001503", "ICD-10:Q72.4", "ICD10:Q72.4", "ICD9:755.34", "MONDO:0016032", "SCTID:93255008", "UMLS:C0345375"; "Congenital short femur", "Femoral intercalary meromelia", "congenital short femur", "femoral agenesis/hypoplasia", "femoral intercalary meromelia"; "Orphanet:1987"; ; rdfs:label "Femoral agenesis/hypoplasia", "Femoral agenesis/hypoplasia"@en; "ORPHA:1987" . _:aa5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."; "Orphanet:1987" . _:aa5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001503"; "MONDO:equivalentTo", "Orphanet-shared" . _:aa5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aa5fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14620; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14620 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.4"; "Specific code (The term has its own code in the ICD10)"@en . _:aa61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.4"; "ORDO:1987/e", "ORDO:1987/specific", "Orphanet:1987" . _:aa63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:755.34"; "MONDO:relatedTo", "i2s" . _:aa65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:93255008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.39" . _:aa67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345375"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aa6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital short femur"; "Orphanet:1987" . _:aa6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "femoral agenesis/hypoplasia"; rdfs:comment "preferred label from MONDO" . _:aa6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "femoral intercalary meromelia"; "Orphanet:1987" . _:aa6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:1987" . a owl:Class; rdfs:subClassOf , ; "Tessier cleft number 1,2"@en; "ICD-10:Q36.0", "ICD-10:Q36.1", "ICD-10:Q36.9", "ICD-10:Q37.0", "ICD-10:Q37.1", "ICD-10:Q37.2", "ICD-10:Q37.3", "ICD-10:Q37.4", "ICD-10:Q37.5", "ICD-10:Q37.8", "ICD-10:Q37.9", "UMLS:C0008924"; rdfs:label "Cleft lip with or without cleft palate"@en; "ORPHA:1991" . _:aa72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q36.0"; "BTNT (broader term maps to a narrower term)"@en . _:aa73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q36.1"; "BTNT (broader term maps to a narrower term)"@en . _:aa76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q36.9"; "BTNT (broader term maps to a narrower term)"@en . _:aa77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q37.0"; "BTNT (broader term maps to a narrower term)"@en . _:aa79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q37.1"; "BTNT (broader term maps to a narrower term)"@en . _:aa7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q37.2"; "BTNT (broader term maps to a narrower term)"@en . _:aa7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q37.3"; "BTNT (broader term maps to a narrower term)"@en . _:aa7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q37.4"; "BTNT (broader term maps to a narrower term)"@en . _:aa7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q37.5"; "BTNT (broader term maps to a narrower term)"@en . _:aa80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q37.8"; "BTNT (broader term maps to a narrower term)"@en . _:aa82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q37.9"; "BTNT (broader term maps to a narrower term)"@en . _:aa85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008924"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "ICD-10:E23.6", "ICD10:E23.6", "OMIM:201400"; rdfs:label "Congenital isolated ACTH deficiency", "Congenital isolated ACTH deficiency"@en; "ORPHA:199296" . _:aa86d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14642; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.6"; "Attributed"@en . _:aa88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.6"; "NTBT (narrower term maps to a broader term)"@en . _:aa89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins."; , ; "46,XX/46,XY chimerism"@en; "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins."@en; "orphanet"@en; "ICD-10:Q99.0", "ICD10:Q99.0", "MONDO:0016045", "UMLS:CN200724"; "46,XX/46,XY chimerism", "tetragametic chimerism"; "Orphanet:199310"; ; rdfs:label "Tetragametic chimerism", "Tetragametic chimerism"@en; "ORPHA:199310" . _:aa8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins."; "Orphanet:199310" . _:aa8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q99.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aa8fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14648; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14648 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q99.0"; "Specific code (The term has its own code in the ICD10)"@en . _:aa90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.0"; "ORDO:199310/e", "ORDO:199310/specific", "Orphanet:199310" . _:aa93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200724"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:aa96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX/46,XY chimerism"; "Orphanet:199310" . _:aa98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tetragametic chimerism"; rdfs:comment "preferred label from MONDO" . _:aa9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:199310" . a owl:Class; rdfs:subClassOf , , ; , , ; "GARD:0007038", "ICD10:Q02", "MONDO:0016056", "MedDRA:10027534", "UMLS:C0025958"; "isolated congenital microcephaly"; "Orphanet:199642"; ; rdfs:label "Isolated congenital microcephaly" . _:aaabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007038"; "MONDO:equivalentTo" . _:aaacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q02"; "ORDO:199642/attributed", "ORDO:199642/ntbt", "Orphanet:199642" . _:aaaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027534"; "ORDO:199642/e", "Orphanet:199642" . _:aaafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated congenital microcephaly"; rdfs:comment "preferred label from MONDO" . _:aab1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:199642" . a owl:Class; rdfs:subClassOf , , ; "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997."; ; , , , , ; "McPherson-Clemens syndrome"@en; "Cleft lip/palate-intestinal malrotation-cardiopathy is a multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed."@en; "orphanet"@en; "GARD:0003430", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:C538160", "MONDO:0011008", "OMIM:601165", "SCTID:719456001", "UMLS:C2931750"; "McPherson-Clemens syndrome", "cleft lip/palate-intestinal malrotation-cardiopathy syndrome"; "McPherson Clemens syndrome", "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease", "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease"; "Orphanet:2001"; ; rdfs:label "Cleft lip/palate - intestinal malrotation - cardiopathy", "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome"@en; "ORPHA:2001" . _:aabad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997."; "Orphanet:2001" . _:aabbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003430"; "MONDO:equivalentTo", "OMIM-shared" . _:aabdd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14662; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:aabfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:aac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:2001/attributed", "ORDO:2001/ntbt", "Orphanet:2001" . _:aac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538160"; "MONDO:equivalentTo", "MONDO:ontobio" . _:aac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601165"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aac3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601165"; "MONDO:equivalentTo", "ORDO:2001/e", "Orphanet:2001" . _:aac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:719456001"; "MONDO:equivalentTo" . _:aac7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931750"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aac9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931750"; "MONDO:equivalentTo", "OMIM:601165", "ORDO:2001/e", "Orphanet:2001" . _:aacad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "McPherson-Clemens syndrome"; "Orphanet:2001" . _:aacfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cleft lip/palate-intestinal malrotation-cardiopathy syndrome"; rdfs:comment "preferred label from MONDO" . _:aad0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "McPherson Clemens syndrome"; "GARD:0003430" . _:aad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease"; "OMIM:601165" . _:aad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease"; "GARD:0003430" . _:aad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2001" . a owl:Class; rdfs:subClassOf , ; "Complete factor I deficiency"@en; "Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H."@en; "orphanet"@en; "ICD-10:D84.1", "ICD10:D84.1", "OMIM:610984", "UMLS:C3463916"; rdfs:label "Immunodeficiency with factor I anomaly", "Immunodeficiency with factor I anomaly"@en; "ORPHA:200418" . _:aadcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14678; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14678 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:aaddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:aaded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610984"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aadfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3463916"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; ; ; "Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components."@en; "orphanet"@en; "ICD-10:D84.1", "ICD10:D84.1", "MONDO:0016061", "OMIM:609814", "UMLS:C0398777"; "immunodeficiency with factor H anomaly"; "Orphanet:200421"; ; rdfs:label "Immunodeficiency with factor H anomaly", "Immunodeficiency with factor H anomaly"@en; "ORPHA:200421" . _:aae5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14683; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14683 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:aae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:aae9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:200421/attributed", "ORDO:200421/ntbt", "Orphanet:200421" . _:aaebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609814"; "NTBT (narrower term maps to a broader term)"@en . _:aaedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398777"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aaeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency with factor H anomaly"; rdfs:comment "preferred label from MONDO" . _:aaf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:200421" . a owl:Class; rdfs:subClassOf ; "Median cleft lower facial stage"@en; "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification."@en; "orphanet"@en; "ICD-10:Q36.1"; rdfs:label "Median cleft lip/mandibule"@en; "ORPHA:2006" . _:aaf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q36.1"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees."@en; "orphanet"@en; "ICD-10:Q35.1", "ICD-10:Q35.3", "ICD-10:Q35.5", "ICD-10:Q35.7", "ICD-10:Q35.9", "MeSH:D002972", "MedDRA:10009269", "OMIM:119540", "UMLS:C0008925"; rdfs:label "Cleft palate"@en; "ORPHA:2014" . _:aaf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q35.1"; "BTNT (broader term maps to a narrower term)"@en . _:aafad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q35.3"; "BTNT (broader term maps to a narrower term)"@en . _:aafbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q35.5"; "BTNT (broader term maps to a narrower term)"@en . _:aafcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q35.7"; "BTNT (broader term maps to a narrower term)"@en . _:aafdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q35.9"; "BTNT (broader term maps to a narrower term)"@en . _:aafed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002972"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aaffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10009269"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:119540"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008925"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur."; , , , ; "CFTDM"@en; "Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life."@en; "orphanet"@en; "GARD:0006161", "ICD-10:G71.2", "ICD10:G71.2", "MONDO:0009711", "NCIT:C120046", "OMIM:255310", "OMIM:300580", "OMIM:617760", "UMLS:C0546264"; "CFTDM", "congenital Fiber-type disproportion", "congenital fiber-type disproportion myopathy"; "CFTD", "congenital Fiber-type disproportion", "congenital fiber type disproportion", "fiber-type disproportion myopathy, congenital", "myopathy, congenital with fiber-type disproportion", "myopathy, congenital, with fiber-type disproportion", "myopathy, congenital, with fiber-type disproportion; CFTD"; "Orphanet:2020"; ; rdfs:label "Congenital fiber-type disproportion myopathy", "Congenital fiber-type disproportion myopathy"@en; "ORPHA:2020" . _:ab08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur."; "NCIT:C120046" . _:ab0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006161"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:ab0bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14703; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14703 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ab0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:ab10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "ORDO:2020/inclusion", "ORDO:2020/ntbt", "Orphanet:2020" . _:ab12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120046"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.77/0.07" . _:ab14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:255310"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:255310"; "MONDO:equivalentTo", "ORDO:2020/e", "Orphanet:2020" . _:ab16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300580"; "BTNT (broader term maps to a narrower term)"@en . _:ab18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617760"; "BTNT (broader term maps to a narrower term)"@en . _:ab1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0546264"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0546264"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C120046", "OMIM:255310", "ORDO:2020/e", "Orphanet:2020" . _:ab1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFTDM"; "Orphanet:2020" . _:ab1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital Fiber-type disproportion"; "NCIT:C120046" . _:ab1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital fiber-type disproportion myopathy"; rdfs:comment "preferred label from MONDO" . _:ab20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFTD"; "MONDO:Lexical", "OMIM:255310" . _:ab21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital Fiber-type disproportion"; "NCIT:C120046" . _:ab22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital fiber type disproportion"; "GARD:0006161" . _:ab23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fiber-type disproportion myopathy, congenital"; "OMIM:255310" . _:ab25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, congenital with fiber-type disproportion"; "GARD:0006161" . _:ab26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, congenital, with fiber-type disproportion"; "MONDO:Lexical", "OMIM:255310" . _:ab28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, congenital, with fiber-type disproportion; CFTD"; "OMIM:255310" . _:ab2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2020" . a owl:Class; rdfs:subClassOf , , , , ; "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome."; ; , , , ; "Autosomal dominant gingival fibromatosis"@en, "Autosomal dominant gingival hyperplasia"@en, "Hereditary gingival hyperplasia"@en; "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome."@en; "orphanet", "orphanet"@en; "DOID:0060466", "ICD-10:K06.1", "ICD10:K06.1", "MONDO:0016070", "OMIM:135300", "OMIM:605544", "OMIM:609955", "OMIM:611010", "OMIM:617626", "OMIMPS:135300", "SCTID:109620006", "UMLS:C0399440"; "Autosomal dominant gingival fibromatosis", "Autosomal dominant gingival hyperplasia", "Hereditary gingival hyperplasia", "autosomal dominant gingival fibromatosis", "autosomal dominant gingival hyperplasia", "hereditary gingival fibromatosis", "hereditary gingival hyperplasia"; "Orphanet:2024"; ; rdfs:label "Hereditary gingival fibromatosis", "Hereditary gingival fibromatosis"@en; "ORPHA:2024" . _:ab37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome."; "Orphanet:2024" . _:ab38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060466"; "MONDO:equivalentTo" . _:ab3cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14727; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14727 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K06.1"; "Attributed"@en . _:ab3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K06.1"; "NTBT (narrower term maps to a broader term)"@en . _:ab3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K06.1"; "ORDO:2024/attributed", "ORDO:2024/ntbt", "Orphanet:2024" . _:ab3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:135300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605544"; "BTNT (broader term maps to a narrower term)"@en . _:ab42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609955"; "BTNT (broader term maps to a narrower term)"@en . _:ab43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611010"; "BTNT (broader term maps to a narrower term)"@en . _:ab44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617626"; "BTNT (broader term maps to a narrower term)"@en . _:ab45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617626"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ab47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:135300"; "MONDO:cjm", "MONDO:equivalentTo" . _:ab49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:109620006"; "DOID:0060466", "MONDO:equivalentTo" . _:ab4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0399440"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0399440"; "DOID:0060466", "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "ORDO:2024/e", "Orphanet:2024" . _:ab4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant gingival fibromatosis"; "Orphanet:2024" . _:ab50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant gingival hyperplasia"; "Orphanet:2024" . _:ab51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary gingival fibromatosis"; "DOID:0060466" . _:ab52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary gingival fibromatosis"; rdfs:comment "preferred label from MONDO" . _:ab53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary gingival hyperplasia"; "DOID:0060466", "Orphanet:2024" . _:ab55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2024" . a owl:Class; rdfs:subClassOf , ; "An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome."; ; "MONDO:0016072"; "anomaly of puberty or/and menstrual cycle of genetic origin", "genetic anomaly of puberty or/and menstrual cycle"; "Orphanet:202940"; ; rdfs:label "Anomaly of puberty or/and menstrual cycle of genetic origin", "Anomaly of puberty or/and menstrual cycle of genetic origin"@en; "ORPHA:202940" . _:ab5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:ab5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anomaly of puberty or/and menstrual cycle of genetic origin"; rdfs:comment "preferred label from MONDO" . _:ab60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic anomaly of puberty or/and menstrual cycle"; "MONDO:patterns/genetic" . _:ab61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:202940" . a owl:Class; rdfs:subClassOf , , , ; "A microphthalmia that is part of a larger syndrome."; , ; "DC:0000280", "MONDO:0016073", "OMIM:300915", "OMIM:615877", "OMIMPS:309800", "UMLS:CN226833"; "microphthalmia, syndromic", "syndrome associated with microphthalmia", "syndromic microphthalmia"; "syndrome associated with microphthalmia"; "Orphanet:202948"; ; rdfs:label "Syndromic microphthalmia" . _:ab64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A microphthalmia that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:ab67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000280"; "MONDO:equivalentTo" . _:ab69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300915"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ab6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615877"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ab6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:309800"; "MONDO:cjm", "MONDO:equivalentTo" . _:ab6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226833"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:ab6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia, syndromic"; "OMIMPS:309800" . _:ab70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with microphthalmia"; "MONDO:patterns/syndromic" . _:ab72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic microphthalmia"; "MONDO:0000064", "MONDO:patterns/syndromic" . _:ab73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic microphthalmia"; rdfs:comment "preferred label from MONDO" . _:ab74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with microphthalmia"; "MONDO:patterns/syndromic" . _:ab76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:202948" . a owl:Class; rdfs:subClassOf ; "CFA"@en, "Cryptogenic fibrosing alveolitis"@en, "UIP"@en, "Usual interstitial pneumonia"@en; "Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause."@en; "orphanet"@en; "ICD-10:J84.1", "MeSH:D054990", "MedDRA:10021240", "OMIM:178500", "OMIM:616371", "OMIM:616373", "UMLS:C0085786", "UMLS:C1800706"; rdfs:label "Idiopathic pulmonary fibrosis"@en; "ORPHA:2032" . _:ab7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J84.1"; "NTBT (narrower term maps to a broader term)"@en . _:ab7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054990"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021240"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:178500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616371"; "BTNT (broader term maps to a narrower term)"@en . _:ab86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616373"; "BTNT (broader term maps to a narrower term)"@en . _:ab87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085786"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ab88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1800706"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus."@en; "orphanet"@en; "ICD-10:Q32.4"; rdfs:label "Congenital bronchobiliary fistula"@en; "ORPHA:2040" . _:ab8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q32.4"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , , , , , , ; "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly."; , , , , , , ; "Cryptophthalmos-syndactyly syndrome"@en; "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly."@en; "orphanet"@en; "DOID:0090001", "GARD:0006465", "ICD-10:Q87.0", "ICD10:Q87.0", "MESH:D058497", "MONDO:0009046", "MSH:D058497", "MeSH:D058497", "NCIT:C118436", "OMIM:219000", "OMIM:617666", "OMIM:617667", "OMIMPS:219000", "SCTID:204102004", "UMLS:C0265233"; "Cryptophthalmos-syndactyly syndrome", "Fraser syndrome", "cryptophthalmos with other malformations", "cryptophthalmos-syndactyly syndrome"; "Fraser-Francois syndrome", "Meyer-Schwickerath's syndrome", "Ulrich-Feichtiger syndrome", "cryptophthalmos syndrome", "cryptophthalmos with Other malformations", "cyclopism"; "Orphanet:2052"; , , ; rdfs:label "Fraser syndrome", "Fraser syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome"^^xsd:anyURI; "ORPHA:2052" . _:ab94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly."; "Orphanet:2052" . _:ab95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090001"; "MONDO:equivalentTo" . _:ab96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006465"; "MONDO:equivalentTo" . _:ab97d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14775; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14775 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "Attributed"@en . _:ab98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "NTBT (narrower term maps to a broader term)"@en . _:ab9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.0"; "DOID:0090001", "ORDO:2052/attributed", "ORDO:2052/ntbt", "Orphanet:2052" . _:ab9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058497"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2052/e", "Orphanet:2052" . _:ab9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058497"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C118436"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/25.82" . _:aba2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:219000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aba3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617666"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aba4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617666"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:aba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617667"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aba6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617667"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:abb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:219000"; "MONDO:cjm", "MONDO:equivalentTo" . _:abbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:204102004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/6.68" . _:abbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265233"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:abbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265233"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:219000", "Orphanet:2052" . _:abbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fraser syndrome"; "OMIM:219000" . _:abbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fraser syndrome"; rdfs:comment "preferred label from MONDO" . _:abc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cryptophthalmos with other malformations"; "DOID:0090001" . _:abc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cryptophthalmos-syndactyly syndrome"; "OMIM:219000", "Orphanet:2052" . _:abc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fraser-Francois syndrome"; "GARD:0006465" . _:abc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meyer-Schwickerath's syndrome"; "GARD:0006465" . _:abc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ulrich-Feichtiger syndrome"; "GARD:0006465" . _:abc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cryptophthalmos syndrome"; "GARD:0006465" . _:abcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cryptophthalmos with Other malformations"; "OMIM:219000" . _:abcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cyclopism"; "GARD:0006465" . _:abcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006465" . _:abcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2052" . _:abd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome"^^xsd:anyURI; "GARD:0006465" . a owl:Class; rdfs:subClassOf , , , , , ; "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies."; , , , , , ; "Galloway syndrome"@en, "Microcephaly-hiatus hernia-nephrotic syndrome"@en, "Nephrosis-neuronal dysmigration syndrome"@en; "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies."@en; "orphanet"@en; "DOID:0060364", "GARD:0000065", "ICD-10:Q04.3", "ICD10:Q04.3", "MESH:C537548", "MONDO:0009627", "MSH:C537548", "MeSH:C537548", "NCIT:C132195", "OMIM:251300", "OMIM:301006", "OMIM:617729", "OMIM:617730", "OMIM:617731", "OMIMPS:251300", "SCTID:721297008", "UMLS:C0795949"; "Galloway syndrome", "Galloway-Mowat syndrome", "Microcephaly - hiatus hernia - nephrotic syndrome", "Nephrosis - neuronal dysmigration syndrome", "microcephaly, hiatal hernia and nephrotic syndrome", "microcephaly-hiatus hernia-nephrotic syndrome", "nephrosis-microcephaly syndrome", "nephrosis-neuronal dysmigration syndrome", "spinocerebellar ataxia, autosomal recessive 5"; "GAMOS", "Galloway Mowat syndrome", "Galloway-Mowat syndrome; GAMOS", "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities", "hiatal hernia-microcephaly-nephrosis, Galloway type", "microcephaly nephrosis syndrome", "microcephaly, hiatal hernia, and nephrotic syndrome", "nephrosis neuronal dysmigration syndrome", "spinocerebellar ataxia, autosomal recessive 5, formerly"; "Orphanet:2065"; , , ; rdfs:label "Galloway-Mowat syndrome", "Galloway-Mowat syndrome"@en; "ORPHA:2065" . _:abdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies."; "Orphanet:2065" . _:abdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060364"; "MONDO:equivalentTo" . _:abe0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000065"; "MONDO:equivalentTo" . _:abe2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14807; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14807 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "Attributed"@en . _:abe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "NTBT (narrower term maps to a broader term)"@en . _:abe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "ORDO:2065/attributed", "ORDO:2065/ntbt", "Orphanet:2065" . _:abe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537548"; "DOID:0060364", "MONDO:equivalentTo", "ORDO:2065/e", "Orphanet:2065" . _:abead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537548"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:abebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C132195"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:abedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251300"; "BTNT (broader term maps to a narrower term)"@en . _:abefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251300"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:abf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301006"; "BTNT (broader term maps to a narrower term)"@en . _:abf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301006"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:abf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617729"; "BTNT (broader term maps to a narrower term)"@en . _:abf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617729"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:abf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617730"; "BTNT (broader term maps to a narrower term)"@en . _:abf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617730"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:abf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617731"; "BTNT (broader term maps to a narrower term)"@en . _:abf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617731"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:abfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:251300"; "MONDO:cjm", "MONDO:equivalentTo" . _:abfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721297008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/6.38" . _:abffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0795949"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ac00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0795949"; "DOID:0060364", "GARD:0000065", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C132195", "OMIM:251300", "ORDO:2065/e", "Orphanet:2065" . _:ac04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galloway syndrome"; "DOID:0060364", "Orphanet:2065" . _:ac05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galloway-Mowat syndrome"; "MONDO:Lexical", "OMIM:251300" . _:ac07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galloway-Mowat syndrome"; rdfs:comment "preferred label from MONDO" . _:ac09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly, hiatal hernia and nephrotic syndrome"; "DOID:0060364" . _:ac0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly-hiatus hernia-nephrotic syndrome"; "Orphanet:2065" . _:ac0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrosis-microcephaly syndrome"; "DOID:0060364" . _:ac0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrosis-neuronal dysmigration syndrome"; "DOID:0060364", "Orphanet:2065" . _:ac0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia, autosomal recessive 5"; "OMIM:251300" . _:ac10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAMOS"; "MONDO:Lexical", "OMIM:251300" . _:ac11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galloway Mowat syndrome"; "GARD:0000065" . _:ac12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galloway-Mowat syndrome; GAMOS"; "OMIM:251300" . _:ac13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities"; "OMIM:251300" . _:ac15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hiatal hernia-microcephaly-nephrosis, Galloway type"; "GARD:0000065" . _:ac17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly nephrosis syndrome"; "GARD:0000065" . _:ac1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly, hiatal hernia, and nephrotic syndrome"; "GARD:0000065", "OMIM:251300" . _:ac1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrosis neuronal dysmigration syndrome"; "GARD:0000065" . _:ac20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia, autosomal recessive 5, formerly"; "OMIM:251300" . _:ac23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2065" . a owl:Class; rdfs:subClassOf , , , , , , ; "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration."; , , , , , ; "GABA transaminase deficiency"@en; "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration."@en; "orphanet"@en; "DOID:0060174", "GARD:0000194", "HGNC:23", "ICD-10:E72.8", "ICD10:E72.8", "MESH:C535407", "MONDO:0013166", "MSH:C535407", "MeSH:C535407", "OMIM:613163", "SCTID:237941007", "UMLS:C0342708"; "GABA aminotransferase deficiency", "GABA transaminase deficiency", "gamma-amino butyric acid transaminase deficiency", "gamma-aminobutyric acid transaminase deficiency"; "4 alpha aminobutyrate transaminase deficiency", "ABAT", "GABA-transaminase deficiency", "GABAT", "gamma aminobutyrate transaminase deficiency", "gamma aminobutyric acid transaminase deficiency"; "Orphanet:2066"; , ; rdfs:label "Gamma-aminobutyric acid transaminase deficiency", "Gamma-aminobutyric acid transaminase deficiency"@en; "ORPHA:2066" . _:ac2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration."; "Orphanet:2066" . _:ac2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060174"; "MONDO:equivalentTo" . _:ac2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000194"; "MONDO:equivalentTo" . _:ac30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGNC:23"; "GARD:0000194" . _:ac32d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14850; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14850 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "Attributed"@en . _:ac33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "NTBT (narrower term maps to a broader term)"@en . _:ac34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.8"; "ORDO:2066/attributed", "ORDO:2066/ntbt", "Orphanet:2066" . _:ac35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535407"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2066/e", "Orphanet:2066" . _:ac36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535407"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ac37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613163"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ac38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613163"; "DOID:0060174", "MONDO:equivalentTo", "ORDO:2066/e", "Orphanet:2066" . _:ac39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237941007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:ac3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342708"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ac3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342708"; "GARD:0000194", "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613163", "ORDO:2066/e", "Orphanet:2066" . _:ac3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GABA aminotransferase deficiency"; rdfs:comment "preferred label from MONDO" . _:ac3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GABA transaminase deficiency"; "GARD:0000194", "Orphanet:2066" . _:ac3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gamma-amino butyric acid transaminase deficiency"; "DOID:0060174" . _:ac3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gamma-aminobutyric acid transaminase deficiency"; "DOID:0060174" . _:ac40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "4 alpha aminobutyrate transaminase deficiency"; "GARD:0000194" . _:ac41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABAT"; "GARD:0000194" . _:ac42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GABA-transaminase deficiency"; "OMIM:613163" . _:ac43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GABAT"; "GARD:0000194" . _:ac44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gamma aminobutyrate transaminase deficiency"; "GARD:0000194" . _:ac45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gamma aminobutyric acid transaminase deficiency"; "GARD:0000194" . _:ac46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2066" . a owl:Class; rdfs:subClassOf , , , , ; "A disease involving the skeletal muscle tissue."; , , , , ; "MedDRA:10028641", "Orphanet:98472", "SCTID:75047002", "UMLS:C1533847"; "disease of skeletal muscle tissue", "disease or disorder of skeletal muscle tissue", "disorder of skeletal muscle tissue", "skeletal muscle disease", "skeletal muscle tissue disease", "skeletal muscle tissue disease or disorder"; "disorder of skeletal muscle tissue"; "Orphanet:206634"; ; rdfs:label "Genetic skeletal muscle disease", "Genetic skeletal muscle disease"@en; "ORPHA:206634" . _:ac47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease involving the skeletal muscle tissue."; "MONDO:patterns/location_top" . _:ac48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028641"; "ORDO:98472/e", "Orphanet:98472" . _:ac49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98472"; "MONDO:equivalentTo" . _:ac4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75047002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.67" . _:ac4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1533847"; "MONDO:equivalentTo", "ORDO:98472/e", "Orphanet:98472" . _:ac4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of skeletal muscle tissue"; "MONDO:patterns/location_top" . _:ac4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of skeletal muscle tissue"; "MONDO:patterns/location_top" . _:ac4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal muscle disease"; rdfs:comment "preferred label from MONDO" . _:ac4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal muscle tissue disease"; "MONDO:patterns/location" . _:ac50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skeletal muscle tissue disease or disorder"; "MONDO:design_pattern", "MONDO:patterns/location" . _:ac51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of skeletal muscle tissue"; "MONDO:patterns/location_top" . _:ac52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98472" . a owl:Class; rdfs:subClassOf ; rdfs:label "Acquired skeletal muscle disease"@en; "ORPHA:206638" . a owl:Class; rdfs:subClassOf ; , ; "GARD:0012583", "ICD-10:G71.0", "ICD10:G71.0", "MONDO:0016106", "UMLS:CN241791"; "progressive muscular dystrophy"; "Orphanet:206644"; ; rdfs:label "Progressive muscular dystrophy", "Progressive muscular dystrophy"@en; "ORPHA:206644" . _:ac59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012583"; "MONDO:equivalentTo" . _:ac5ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14885; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14885 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Attributed"@en . _:ac5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:ac5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:206644/attributed", "ORDO:206644/ntbt", "Orphanet:206644" . _:ac5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN241791"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ac61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:ac62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206644" . a owl:Class; rdfs:subClassOf , ; "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.", "Myotonic dystrophy is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement."; "Laura Huerta"; , , , , ; , , , , , , ; "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006279/"; "DC:0000127", "DOID:11722", "DOID:450", "GARD:0010419", "ICD-10:G71.1", "ICD10:G71.1", "ICD10:G71.11", "ICD9:359.2", "ICD9:359.21", "MESH:D009223", "MONDO:0016107", "MSH:D009223", "MeSH:D009223", "MedDRA:10068871", "NCIT:C84914", "NCIt:C84914", "OMIM:160900", "OMIMPS:160900", "SCTID:240104008", "UMLS:C0027126", "UMLS:C0410226"; "Steinert disease", "dystrophia myotonica", "inherited myotonic dystrophy", "myotonia atrophica", "myotonic dystrophy", "myotonic muscular dystrophy"; "myotonia atrophica", "myotonia dystrophica", "myotonic disease"; "Orphanet:206647"; ; rdfs:comment "Myotonic dystrophy is a long term genetic disorder that affects muscle function."; rdfs:label "Myotonic dystrophy", "Myotonic dystrophy"@en; "ORPHA:206647" . _:ac68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies."; "NCIT:C84914" . _:ac6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Myotonic dystrophy is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laura Huerta"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006279/"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000127"; "MONDO:equivalentTo" . _:ac73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11722"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:450"; "MONDO:equivalentTo" . _:ac77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010419"; "MONDO:equivalentTo", "Orphanet-shared" . _:ac78d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14900; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14900 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "Attributed"@en . _:ac7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "NTBT (narrower term maps to a broader term)"@en . _:ac7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.1"; "DOID:450", "ORDO:206647/attributed", "ORDO:206647/ntbt", "Orphanet:206647" . _:ac7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.11"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.2"; "DOID:450" . _:ac82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.21"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009223"; "MONDO:equivalentTo", "ORDO:206647/e", "Orphanet:206647" . _:ac84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D009223"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009223"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ac86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068871"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ac89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068871"; "ORDO:206647/e", "Orphanet:206647" . _:ac8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84914"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:ac8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C84914"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:160900"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:160900"; "DC:0000127", "MONDO:equivalentTo" . _:ac90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:240104008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.09" . _:ac91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027126"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ac92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027126"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027126"; "MONDO:equivalentTo", "NCIT:C84914", "ORDO:206647/e", "Orphanet:206647" . _:ac94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0410226"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ac95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steinert disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophia myotonica"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited myotonic dystrophy"; "MONDO:cjm" . _:ac9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonia atrophica"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy"; rdfs:comment "preferred label from MONDO" . _:ac9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic muscular dystrophy"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ac9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonia atrophica"; "GARD:0010419" . _:aca0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonia dystrophica"; "GARD:0010419" . _:aca2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic disease"; "DOID:450" . _:aca3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206647" . _:aca5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "Myotonic dystrophy is a long term genetic disorder that affects muscle function."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , ; "Autosomal dominant form of distal myopathy."; , ; "ICD10:G71.0", "MONDO:0016108", "UMLS:CN229018"; "autosomal dominant distal myopathy", "distal myopathy, autosomal dominant"; "Orphanet:206650"; ; rdfs:label "Autosomal dominant distal myopathy" . _:acbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant form of distal myopathy."; "MONDO:patterns/autosomal_dominant" . _:acbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:206650/attributed", "ORDO:206650/ntbt", "Orphanet:206650" . _:acc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN229018"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:acc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant distal myopathy"; rdfs:comment "preferred label from MONDO" . _:acc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:accad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206650" . a owl:Class; rdfs:subClassOf , ; "Autosomal recessive form of distal myopathy."; , ; "ICD10:G71.0", "MONDO:0016109", "OMIM:617030", "UMLS:CN229019"; "autosomal recessive distal myopathy", "distal myopathy, autosomal recessive"; "Orphanet:206653"; ; rdfs:label "Autosomal recessive distal myopathy" . _:acd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive form of distal myopathy."; "MONDO:patterns/autosomal_recessive" . _:acd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:206653/attributed", "ORDO:206653/ntbt", "Orphanet:206653" . _:acd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617030"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:acd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN229019"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:acd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive distal myopathy"; rdfs:comment "preferred label from MONDO" . _:acd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:acdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206653" . a owl:Class; rdfs:subClassOf , ; "A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness."; , , , ; "MONDO:0016110", "NCIT:C122787", "SCTID:424795008", "UMLS:C1828221"; "non dystrophic myotonia", "non-dystrophic myopathy", "non-dystrophic myotonia"; "Orphanet:206656"; ; rdfs:label "Non-dystrophic myopathy", "Non-dystrophic myopathy"@en; "ORPHA:206656" . _:ace1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness."; "NCIT:C122787" . _:ace3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122787"; "MONDO:equivalentTo" . _:ace9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:424795008"; "MONDO:equivalentTo" . _:acead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1828221"; "MONDO:equivalentTo" . _:aceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non dystrophic myotonia"; "NCIT:C122787" . _:acefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-dystrophic myopathy"; rdfs:comment "preferred label from MONDO" . _:acf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-dystrophic myotonia"; "NCIT:C122787" . _:acf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206656" . a owl:Class; rdfs:subClassOf ; ; "GARD:0001658", "ICD10:G71.8", "MONDO:0016112"; "inclusion myopathy"; "cytoplasmic body myopathy"; "Orphanet:206662"; , ; rdfs:label "Inclusion myopathy"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy"^^xsd:anyURI . _:acf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001658"; "MONDO:equivalentTo" . _:acf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.8"; "ORDO:206662/attributed", "ORDO:206662/ntbt", "Orphanet:206662" . _:acf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion myopathy"; rdfs:comment "preferred label from MONDO" . _:acfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cytoplasmic body myopathy"; "GARD:0001658" . _:acfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206662" . _:acfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy"^^xsd:anyURI; "GARD:0001658" . a owl:Class; rdfs:subClassOf ; , , ; "ICD9:359.89", "MONDO:0016117", "SCTID:240095001", "UMLS:C0410214"; "Lipid storage myopathy", "lipid storage myopathy", "muscular lipidosis"; "Orphanet:206953"; ; rdfs:label "Muscular lipidosis" . _:ad03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.89"; "MONDO:relatedTo", "i2s" . _:ad05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:240095001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.74/1.44" . _:ad07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0410214"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "Orphanet:206953" . _:ad0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipid storage myopathy"; "Orphanet:206953" . _:ad0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular lipidosis"; rdfs:comment "preferred label from MONDO" . _:ad0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206953" . a owl:Class; rdfs:subClassOf ; ; "ICD10:E74.0", "MONDO:0016118"; "Glycogen storage myopathy", "glycogen storage myopathy", "muscular glycogenosis"; "Orphanet:206959"; ; rdfs:label "Muscular glycogenosis" . _:ad0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:relatedTo", "ORDO:206959/attributed", "ORDO:206959/ntbt", "Orphanet:206959" . _:ad0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage myopathy"; "Orphanet:206959" . _:ad10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular glycogenosis"; rdfs:comment "preferred label from MONDO" . _:ad11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206959" . a owl:Class; rdfs:subClassOf , , ; "Myopathy caused by mitochondrial abnormalities."; , ; , , , , , ; ; "DOID:699", "GARD:0011956", "ICD-10:G71.3", "ICD10:G71.3", "MESH:D017240", "MONDO:0009637", "MSH:D017240", "MeSH:D017240", "MedDRA:10027710", "NCIT:C101328", "OMIM:616209", "OMIM:617675", "UMLS:C0162670"; "inborn mitochondrial myopathy", "mitochondrial cytopathy", "mitochondrial myopathy"; "Orphanet:206966"; ; rdfs:label "Mitochondrial myopathy", "Mitochondrial myopathy"@en; "ORPHA:206966" . _:ad16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Myopathy caused by mitochondrial abnormalities."; "NCIT:C101328" . _:ad18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206966" . _:ad19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:699"; "MONDO:equivalentTo" . _:ad1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011956"; "MONDO:equivalentTo" . _:ad1dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14973; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14973 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.3"; "Attributed"@en . _:ad1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.3"; "NTBT (narrower term maps to a broader term)"@en . _:ad20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.3"; "ORDO:206966/attributed", "ORDO:206966/ntbt", "Orphanet:206966" . _:ad21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017240"; "DOID:699", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:206966/e", "Orphanet:206966" . _:ad25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017240"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027710"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027710"; "ORDO:206966/e", "Orphanet:206966" . _:ad2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C101328"; "DOID:699", "MONDO:equivalentTo" . _:ad2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616209"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ad34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617675"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ad35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162670"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162670"; "DOID:699", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C101328", "OMIM:251900", "ORDO:206966/e", "Orphanet:206966" . _:ad3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn mitochondrial myopathy"; rdfs:comment "preferred label from MONDO" . _:ad3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial cytopathy"; "DOID:699" . _:ad3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial myopathy"; "NCIT:C101328", "OMIM:251900" . _:ad3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206966" . a owl:Class; rdfs:subClassOf , ; , , , ; "ICD-10:G71.1", "ICD10:G71.1", "MESH:D020967", "MONDO:0016120", "MSH:D020967", "MeSH:D020967", "MedDRA:10028658", "UMLS:C0553604"; "myotonic syndrome"; "Orphanet:206970"; ; rdfs:label "Myotonic syndrome", "Myotonic syndrome"@en; "ORPHA:206970" . _:ad40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad42d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid14991; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid14991 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "Specific code (The term has its own code in the ICD10)"@en . _:ad45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.1"; "ORDO:206970/e", "ORDO:206970/specific", "Orphanet:206970" . _:ad47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020967"; "MONDO:equivalentTo", "ORDO:206970/e", "Orphanet:206970" . _:ad4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020967"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028658"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028658"; "ORDO:206970/e", "Orphanet:206970" . _:ad50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0553604"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic syndrome"; rdfs:comment "preferred label from MONDO" . _:ad53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206970" . a owl:Class; rdfs:subClassOf ; ; "ICD-10:G71.1", "ICD10:G71.1", "MONDO:0016121", "UMLS:C0027127"; "congenital myotonia"; "Orphanet:206973"; ; rdfs:label "Congenital myotonia", "Congenital myotonia"@en; "ORPHA:206973" . _:ad56d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15001; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15001 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ad58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "NTBT (narrower term maps to a broader term)"@en . _:ad59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.1"; "ORDO:206973/inclusion", "ORDO:206973/ntbt", "Orphanet:206973" . _:ad5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027127"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital myotonia"; rdfs:comment "preferred label from MONDO" . _:ad5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:206973" . a owl:Class; rdfs:subClassOf ; "ICD-10:G72.3", "MeSH:D010245", "MedDRA:10016208", "UMLS:C0030443", "UMLS:C1279412"; rdfs:label "Periodic paralysis"@en; "ORPHA:206976" . _:ad5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G72.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D010245"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016208"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030443"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1279412"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; ; ; "MONDO:0016132"; "rare hereditary disease with peripheral neuropathy"; "Orphanet:207015"; , ; rdfs:label "Rare hereditary disease with peripheral neuropathy"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:ad6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hereditary disease with peripheral neuropathy"; rdfs:comment "preferred label from MONDO" . _:ad6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207015" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016133", "UMLS:CN200897"; "rare hereditary metabolic disease with peripheral neuropathy"; "Orphanet:207018"; , ; rdfs:label "Rare hereditary metabolic disease with peripheral neuropathy"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:ad71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200897"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ad73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hereditary metabolic disease with peripheral neuropathy"; rdfs:comment "preferred label from MONDO" . _:ad74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207018" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016134", "UMLS:CN200898"; "rare hereditary systemic disease with peripheral neuropathy"; "Orphanet:207021"; , ; rdfs:label "Rare hereditary systemic disease with peripheral neuropathy"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:ad78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200898"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ad7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hereditary systemic disease with peripheral neuropathy"; rdfs:comment "preferred label from MONDO" . _:ad7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207021" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016135", "UMLS:CN200899"; "rare hereditary neurologic disease with peripheral neuropathy"; "Orphanet:207025"; , ; rdfs:label "Rare hereditary neurologic disease with peripheral neuropathy"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:ad7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200899"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ad7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hereditary neurologic disease with peripheral neuropathy"; rdfs:comment "preferred label from MONDO" . _:ad7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207025" . a owl:Class; rdfs:subClassOf ; ; "ICD10:G60.2", "MONDO:0016136"; "cerebellar ataxia with peripheral neuropathy"; "Orphanet:207028"; ; rdfs:label "Cerebellar ataxia with peripheral neuropathy" . _:ad84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G60.2"; "ORDO:207028/e", "ORDO:207028/specific", "Orphanet:207028" . _:ad85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar ataxia with peripheral neuropathy"; rdfs:comment "preferred label from MONDO" . _:ad87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207028" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016139", "UMLS:CN200901"; "qualitative or quantitative protein defects in neuromuscular diseases"; "Orphanet:207049"; ; rdfs:label "Qualitative or quantitative protein defects in neuromuscular diseases", "Qualitative or quantitative protein defects in neuromuscular diseases"@en; "ORPHA:207049" . _:ad8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN200901"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ad8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative protein defects in neuromuscular diseases"; rdfs:comment "preferred label from MONDO" . _:ad8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207049" . a owl:Class; rdfs:subClassOf , ; "deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency."; ; , ; "Sarcoglycanopathy"@en; "MESH:D058088", "MONDO:0016140", "UMLS:C2936331"; "Sarcoglycanopathy", "qualitative or quantitative defects of sarcoglycan", "sarcoglycanopathy"; "Orphanet:207052"; ; rdfs:label "Qualitative or quantitative defects of sarcoglycan", "Qualitative or quantitative defects of sarcoglycan"@en; "ORPHA:207052" . _:ad98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency."; "MESH:D058088" . _:ad99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058088"; "MONDO:equivalentTo" . _:ad9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936331"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ad9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of sarcoglycan"; "Orphanet:207052" . _:ad9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sarcoglycanopathy"; rdfs:comment "preferred label from MONDO" . _:ad9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207052" . a owl:Class; rdfs:subClassOf ; , , ; "GARD:0002003", "GARD:0002031", "MESH:C537995", "MONDO:0016145", "UMLS:C2931687"; "Dysferlinopathy", "dysferlinopathy", "qualitative or quantitative defects of dysferlin"; "Orphanet:207073"; , ; rdfs:label "Qualitative or quantitative defects of dysferlin" . _:ada4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002003"; "MONDO:equivalentTo", "shared-umls-xref" . _:ada5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002031"; "MONDO:equivalentTo" . _:ada8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537995"; "MONDO:equivalentTo", "MONDO:ontobio" . _:adaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931687"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "Orphanet:207073" . _:adadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysferlinopathy"; "Orphanet:207073" . _:adaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of dysferlin"; rdfs:comment "preferred label from MONDO" . _:adb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207073" . a owl:Class; rdfs:subClassOf ; , ; "Dystrophinopathy"@en; "MONDO:0016147", "UMLS:CN043595"; "Dystrophinopathy", "dystrophinopathy", "qualitative or quantitative defects of dystrophin"; "Orphanet:207085"; ; rdfs:label "Qualitative or quantitative defects of dystrophin", "Qualitative or quantitative defects of dystrophin"@en; "ORPHA:207085" . _:adb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN043595"; "MONDO:equivalentTo" . _:adb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophinopathy"; "Orphanet:207085" . _:adb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of dystrophin"; rdfs:comment "preferred label from MONDO" . _:adb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207085" . a owl:Class; rdfs:subClassOf , , ; ; "MONDO:0016148"; "qualitative or quantitative defects of collagen 6", "qualitative or quantitative defects of collagen type 6"; "Orphanet:207090"; ; rdfs:label "Qualitative or quantitative defects of collagen 6", "Qualitative or quantitative defects of collagen 6"@en; "ORPHA:207090" . _:adbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of collagen 6"; rdfs:comment "preferred label from MONDO" . _:adbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of collagen type 6"; "MONDORULE:1", "Orphanet:207090" . _:adbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207090" . a owl:Class; rdfs:subClassOf , ; ; "Secondary alpha-dystroglycanopathy"@en, "Secondary dystroglycanopathy"@en; "MONDO:0016155"; "Secondary alpha-dystroglycanopathy", "Secondary dystroglycanopathy", "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", "secondary alpha-dystroglycanopathy", "secondary dystroglycanopathy"; "Orphanet:207113"; ; rdfs:label "Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", "Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan"@en; "ORPHA:207113" . _:adc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan"; rdfs:comment "preferred label from MONDO" . _:adc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary alpha-dystroglycanopathy"; "Orphanet:207113" . _:adc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary dystroglycanopathy"; "Orphanet:207113" . _:adc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207113" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016156"; "qualitative or quantitative defects of FKRP"; "Orphanet:207119"; ; rdfs:comment "Editor note: consider merge with fukutin"; rdfs:label "Qualitative or quantitative defects of FKRP", "Qualitative or quantitative defects of FKRP"@en; "ORPHA:207119" . _:adc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of FKRP"; rdfs:comment "preferred label from MONDO" . _:adcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207119" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016157"; "qualitative or quantitative defects of fukutin"; "Orphanet:207122"; ; rdfs:label "Qualitative or quantitative defects of fukutin" . _:ade0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of fukutin"; rdfs:comment "preferred label from MONDO" . _:ade2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:207122" . a owl:Class; rdfs:subClassOf ; "Gélineau disease"@en, "Narcolepsy-cataplexy"@en; "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)."@en; "orphanet"@en; "ICD-10:G47.4", "MeSH:D009290", "MedDRA:10028713", "OMIM:161400", "OMIM:605841", "OMIM:609039", "OMIM:612417", "OMIM:612851", "OMIM:614223", "OMIM:614250", "UMLS:C0027404", "UMLS:C0751362"; rdfs:label "Narcolepsy type 1"@en; "ORPHA:2073" . _:ade6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G47.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ade8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009290"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:adeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028713"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:adf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:161400"; "BTNT (broader term maps to a narrower term)"@en . _:adf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605841"; "BTNT (broader term maps to a narrower term)"@en . _:adf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609039"; "BTNT (broader term maps to a narrower term)"@en . _:adf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612417"; "BTNT (broader term maps to a narrower term)"@en . _:adf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612851"; "BTNT (broader term maps to a narrower term)"@en . _:adf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614223"; "BTNT (broader term maps to a narrower term)"@en . _:adf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614250"; "BTNT (broader term maps to a narrower term)"@en . _:adfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027404"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:adfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751362"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0016160", "OMIM:300088", "OMIM:300423", "OMIM:300607", "UMLS:CN226857"; "X-linked intellectual disability-epilepsy syndrome"; "Orphanet:2076"; ; rdfs:label "X-linked intellectual disability - epilepsy" . _:ae01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226857"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ae02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked intellectual disability-epilepsy syndrome"; rdfs:comment "preferred label from MONDO" . _:ae03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2076" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:G11", "MONDO:0016163", "UMLS:CN229031"; "ADCA2", "ADCAII", "Autosomal dominant cerebellar ataxia type II", "autosomal dominant cerebellar ataxia type 2", "autosomal dominant cerebellar ataxia type II"; "Orphanet:208508"; ; rdfs:label "Autosomal dominant cerebellar ataxia type 2" . _:ae0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN229031"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:ae0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCA2"; "Orphanet:208508" . _:ae10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCAII"; "Orphanet:208508" . _:ae12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type 2"; "Orphanet:208508" . _:ae14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type II"; "Orphanet:208508" . _:ae16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type II"; rdfs:comment "preferred label from MONDO" . _:ae17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:208508" . a owl:Class; rdfs:subClassOf , ; "Genetic hypoparathyroidism."; ; "MONDO:0016165"; "genetic hypoparathyroidism"; "Orphanet:208593"; ; rdfs:label "Genetic hypoparathyroidism", "Genetic hypoparathyroidism"@en; "ORPHA:208593" . _:ae18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hypoparathyroidism"; "MONDO:patterns/genetic" . _:ae19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hypoparathyroidism"; rdfs:comment "preferred label from MONDO" . _:ae1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:208593" . a owl:Class; rdfs:subClassOf , ; "Genetic hyperparathyroidism."; ; "MONDO:0016166"; "genetic hyperparathyroidism"; "Orphanet:208596"; ; rdfs:label "Genetic hyperparathyroidism", "Genetic hyperparathyroidism"@en; "ORPHA:208596" . _:ae20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hyperparathyroidism"; "MONDO:patterns/genetic" . _:ae21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hyperparathyroidism"; rdfs:comment "preferred label from MONDO" . _:ae23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:208596" . a owl:Class; rdfs:subClassOf ; "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term)."@en; "orphanet"@en; "ICD-10:D33.3", "UMLS:C0796418"; rdfs:label "Optic pathway glioma"@en; "ORPHA:2086" . _:ae24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D33.3"; "NTBT (narrower term maps to a broader term)"@en . _:ae26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796418"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)."; , , , , , ; "orphanet"; "caps"; "GARD:0010927", "ICD10:E85.0", "ICD9:759.89", "MESH:D056587", "MONDO:0016168", "MSH:D056587", "MedDRA:10068850", "NCIT:C84657", "SCTID:430079001", "UMLS:C2316212"; "CAPS", "Cryopyrinopathy", "cryopyrin-associated periodic syndrome"; "Orphanet:208650"; ; rdfs:label "Cryopyrin-associated periodic syndrome" . _:ae2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)."; "Orphanet:208650" . _:ae2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "caps"; "Orphanet:208650" . _:ae2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010927"; "MONDO:equivalentTo" . _:ae30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "ORDO:208650/attributed", "ORDO:208650/ntbt", "Orphanet:208650" . _:ae32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:ae35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056587"; "MONDO:equivalentTo", "ORDO:208650/e", "Orphanet:208650" . _:ae36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068850"; "ORDO:208650/e", "Orphanet:208650" . _:ae3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84657"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.86/0.20" . _:ae3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:430079001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.68" . _:ae3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2316212"; "MONDO:equivalentTo", "NCIT:C84657", "ORDO:208650/e", "Orphanet:208650" . _:ae40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cryopyrinopathy"; "Orphanet:208650" . _:ae41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cryopyrin-associated periodic syndrome"; rdfs:comment "preferred label from MONDO" . _:ae42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:208650" . a owl:Class; rdfs:subClassOf , , , , ; "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism."; ; , , ; "Bickel-Fanconi glycogenosis"@en, "Fanconi-Bickel disease"@en, "GSD due to GLUT2 deficiency"@en, "GSD type 11"@en, "GSD type XI"@en, "Glycogen storage disease type 11"@en, "Glycogen storage disease type XI"@en, "Glycogenosis due to GLUT2 deficiency"@en; "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism."@en; "orphanet"@en; "GARD:0002268", "ICD-10:E74.0", "ICD10:E74.0", "MONDO:0009216", "OMIM:227810", "SCTID:61598006", "UMLS:C3495427"; "Bickel-Fanconi glycogenosis", "FBS", "Fanconi Bickel syndrome", "Fanconi syndrome with intestinal malabsorption and galactose intolerance", "Fanconi-Bickel disease", "Fanconi-Bickel syndrome", "Fanconi-Bickel syndrome; FBS", "GSD due to GLUT2 deficiency", "Glycogenosis due to GLUT2 deficiency", "glycogen storage disease due to GLUT2 deficiency", "glycogenosis due to GLUT2 deficiency"; "GLUT2 deficiency", "GSD type 11", "GSD type XI", "glycogen storage disease 11", "glycogen storage disease XI", "glycogen storage disease type 11", "glycogen storage disease type XI", "glycogenosis Fanconi EXACT", "glycogenosis, Fanconi type", "hepatic glycogenosis with Fanconi nephropathy", "hepatic glycogenosis with amino aciduria and glucosuria", "hepatorenal glycogenosis with renal Fanconi syndrome", "hepatorenal glycogenosis with renal fanconi syndrome", "pseudo-phlorizin diabetes"; "Orphanet:2088"; , ; rdfs:label "Glycogen storage disease due to GLUT2 deficiency", "Glycogen storage disease due to GLUT2 deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome"^^xsd:anyURI; "ORPHA:2088" . _:ae47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism."; "Orphanet:2088" . _:ae48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002268"; "MONDO:equivalentTo" . _:ae49d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15103; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15103 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Attributed"@en . _:ae4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:ae4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:2088/attributed", "ORDO:2088/ntbt", "Orphanet:2088" . _:ae4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227810"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ae50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227810"; "GARD:0002268", "MONDO:equivalentTo", "ORDO:2088/e", "Orphanet:2088" . _:ae52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:61598006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/10.44" . _:ae54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495427"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ae56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bickel-Fanconi glycogenosis"; "Orphanet:2088" . _:ae57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBS"; "MONDO:Lexical", "OMIM:227810" . _:ae58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi Bickel syndrome"; "GARD:0002268" . _:ae59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi syndrome with intestinal malabsorption and galactose intolerance"; "GARD:0002268", "OMIM:227810" . _:ae5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi-Bickel disease"; "Orphanet:2088" . _:ae5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi-Bickel syndrome"; "MONDO:Lexical", "OMIM:227810" . _:ae5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi-Bickel syndrome; FBS"; "OMIM:227810" . _:ae5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to GLUT2 deficiency"; "Orphanet:2088" . _:ae5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to GLUT2 deficiency"; "GARD:0002268" . _:ae61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to GLUT2 deficiency"; rdfs:comment "preferred label from MONDO" . _:ae62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to GLUT2 deficiency"; "Orphanet:2088" . _:ae67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLUT2 deficiency"; "GARD:0002268" . _:ae69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 11"; "Orphanet:2088"; . _:ae6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type XI"; "Orphanet:2088"; . _:ae6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease 11"; "OMIM:227810"; . _:ae71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease XI"; "GARD:0002268" . _:ae72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 11"; "Orphanet:2088"; . _:ae74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type XI"; "Orphanet:2088"; . _:ae76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis Fanconi EXACT"; "GARD:0002268" . _:ae7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis, Fanconi type"; "OMIM:227810" . _:ae7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatic glycogenosis with Fanconi nephropathy"; "OMIM:227810" . _:ae7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatic glycogenosis with amino aciduria and glucosuria"; "GARD:0002268", "OMIM:227810" . _:ae7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatorenal glycogenosis with renal Fanconi syndrome"; "GARD:0002268", "OMIM:227810" . _:ae80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatorenal glycogenosis with renal fanconi syndrome"; "GARD:0002268" . _:ae81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudo-phlorizin diabetes"; "GARD:0002268", "OMIM:227810" . _:ae82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2088" . _:ae83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome"^^xsd:anyURI; "GARD:0002268" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016182"; "Qualitative or quantitative defects of protein POMGNT1", "qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase", "qualitative or quantitative defects of protein POMGNT1"; "Orphanet:209024"; ; rdfs:label "Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase" . _:ae84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase"; rdfs:comment "preferred label from MONDO" . _:ae85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of protein POMGNT1"; "Orphanet:209024" . _:ae86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209024" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016184"; "qualitative or quantitative defects of protein O-mannosyltransferase 1", "qualitative or quantitative defects of protein O-mannosyltransferase type 1"; "Orphanet:209030"; ; rdfs:label "Qualitative or quantitative defects of protein O-mannosyltransferase 1" . _:ae8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of protein O-mannosyltransferase 1"; rdfs:comment "preferred label from MONDO" . _:ae8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of protein O-mannosyltransferase type 1"; "MONDORULE:1", "Orphanet:209030" . _:ae8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209030" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016185"; "qualitative or quantitative defects of protein O-mannosyltransferase 2", "qualitative or quantitative defects of protein O-mannosyltransferase type 2"; "Orphanet:209033"; ; rdfs:label "Qualitative or quantitative defects of protein O-mannosyltransferase 2" . _:ae91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of protein O-mannosyltransferase 2"; rdfs:comment "preferred label from MONDO" . _:ae92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of protein O-mannosyltransferase type 2"; "MONDORULE:1", "Orphanet:209033" . _:ae95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209033" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016186"; "qualitative or quantitative defects of myofibrillar proteins"; "Orphanet:209038"; ; rdfs:label "Qualitative or quantitative defects of myofibrillar proteins" . _:ae99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of myofibrillar proteins"; rdfs:comment "preferred label from MONDO" . _:ae9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209038" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016187"; "qualitative or quantitative defects of desmin"; "Orphanet:209041"; ; rdfs:label "Qualitative or quantitative defects of desmin" . _:ae9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of desmin"; rdfs:comment "preferred label from MONDO" . _:ae9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209041" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016191"; "qualitative or quantitative defects of titin"; "Orphanet:209053"; ; rdfs:label "Qualitative or quantitative defects of titin", "Qualitative or quantitative defects of titin"@en; "ORPHA:209053" . _:aea2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of titin"; rdfs:comment "preferred label from MONDO" . _:aea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209053" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016193"; "qualitative or quantitative defects of alpha-actin"; "Orphanet:209059"; ; rdfs:label "Qualitative or quantitative defects of alpha-actin" . _:aea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of alpha-actin"; rdfs:comment "preferred label from MONDO" . _:aea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209059" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016196"; "qualitative or quantitative defects of emerin"; "Orphanet:209188"; ; rdfs:label "Qualitative or quantitative defects of emerin", "Qualitative or quantitative defects of emerin"@en; "ORPHA:209188" . _:aeabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of emerin"; rdfs:comment "preferred label from MONDO" . _:aeacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209188" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016197"; "qualitative or quantitative defects of selenoprotein N1"; "Orphanet:209193"; ; rdfs:label "Qualitative or quantitative defects of selenoprotein N1" . _:aeafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of selenoprotein N1"; rdfs:comment "preferred label from MONDO" . _:aeb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209193" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016198"; "qualitative or quantitative defects of plectin"; "Orphanet:209196"; ; rdfs:label "Qualitative or quantitative defects of plectin" . _:aeb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of plectin"; rdfs:comment "preferred label from MONDO" . _:aeb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209196" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016200"; "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -", "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -"; "Orphanet:209203"; ; rdfs:label "Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -" . _:aeb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -"; rdfs:comment "preferred label from MONDO" . _:aeb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -"; "MONDORULE:1", "Orphanet:209203" . _:aeb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209203" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016201"; "qualitative or quantitative defects of myotilin"; "Orphanet:209224"; ; rdfs:label "Qualitative or quantitative defects of myotilin" . _:aebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of myotilin"; rdfs:comment "preferred label from MONDO" . _:aebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209224" . a owl:Class; rdfs:subClassOf , , , ; "Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age."; ; , , ; "FJHN type 1"@en, "Familial juvenile gouty nephropathy"@en, "Familial nephropathy with gout"@en, "UMOD-associated FJHN"@en, "UMOD-associated familial juvenile hyperuricemic nephropathy"@en; "Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age."@en; "orphanet", "orphanet"@en; "familial juvenile gouty nephropathy", "familial nephropathy with gout", "gouty nephropathy, familial juvenile", "hyperuricemic nephropathy, familial juvenile", "nephropathy, familial, with gout"; "GARD:0006806", "MONDO:0008073", "OMIM:162000", "UMLS:CN239214"; "FJHN type 1", "Familial juvenile gouty nephropathy", "Familial nephropathy with gout", "HNFJ1", "UMOD familial juvenile hyperuricemic nephropathy", "UMOD-associated FJHN", "UMOD-associated familial juvenile hyperuricemic nephropathy", "UMOD-related kidney disease", "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD", "familial juvenile hyperuricemic nephropathy type 1", "hyperuricemic nephropathy, familial juvenile 1", "hyperuricemic nephropathy, familial juvenile, 1", "hyperuricemic nephropathy, familial juvenile, 1; HNFJ1", "hyperuricemic nephropathy, familial juvenile, type 1", "uromodulin storage disease", "uromodulin-associated kidney disease"; "familial juvenile hyperuricaemic nephropathy"; "Orphanet:209886"; , , ; rdfs:label "Familial juvenile hyperuricemic nephropathy type 1", "Familial juvenile hyperuricemic nephropathy type 1"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy"^^xsd:anyURI; "ORPHA:209886" . _:aec3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age."; "Orphanet:209886" . _:aec4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial juvenile gouty nephropathy"; "Orphanet:209886" . _:aec5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial nephropathy with gout"; "Orphanet:209886" . _:aec6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gouty nephropathy, familial juvenile"; "OMIM:162000" . _:aec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperuricemic nephropathy, familial juvenile"; "OMIM:162000" . _:aecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy, familial, with gout"; "OMIM:162000" . _:aecbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006806"; "MONDO:equivalentTo" . _:aeccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aecdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162000"; "GARD:0006806", "MONDO:equivalentTo", "ORDO:209886/e", "Orphanet:209886" . _:aeced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239214"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:aecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FJHN type 1"; "Orphanet:209886" . _:aed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HNFJ1"; "OMIM:162000" . _:aed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMOD familial juvenile hyperuricemic nephropathy"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:aed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMOD-associated FJHN"; "Orphanet:209886" . _:aedad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMOD-associated familial juvenile hyperuricemic nephropathy"; "Orphanet:209886" . _:aedbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMOD-related kidney disease"; "GARD:0006806" . _:aedcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD"; "MONDO:design_pattern" . _:aee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial juvenile hyperuricemic nephropathy type 1"; rdfs:comment "preferred label from MONDO" . _:aee8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperuricemic nephropathy, familial juvenile, 1"; "MONDO:Lexical", "OMIM:162000" . _:aeead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperuricemic nephropathy, familial juvenile, 1; HNFJ1"; "OMIM:162000" . _:aeecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperuricemic nephropathy, familial juvenile, type 1"; "MONDORULE:1", "OMIM:162000" . _:aef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uromodulin-associated kidney disease"; "GARD:0006806" . _:aef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial juvenile hyperuricaemic nephropathy"; "GARD:0006806" . _:aef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209886" . _:aefad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy"^^xsd:anyURI; "GARD:0006806" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0016210", "SCTID:404689008"; "alternating hemiplegia"; "Orphanet:209978"; ; rdfs:label "Alternating hemiplegia" . _:aefbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:404689008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:aefcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alternating hemiplegia"; rdfs:comment "preferred label from MONDO" . _:aefed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:209978" . a owl:Class; rdfs:subClassOf , , ; "GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases. GTP-cyclohydrolase I deficiency should be suspected in all infants with a positive neonatal screening test for phenylketonuria, especially when hyperphenylalaninemia is moderate. The most effective way to diagnose the disorder is to measure pteridine levels in urine and to confirm the result by measuring neurotransmitters (5-hydroxyindolacetic acid, homovanillic acid) in cerebrospinal fluid and with an oral tetrahydrobiopterin-loading test (20 mg/kg). When left untreated, the deficiency causes neurological signs at age 4 or 5 months, although clinical signs are often obvious from birth. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. The treatment attempts to bring phenylalaninemia levels back to normal (diet with restricted phenylalanine intake or prescription of tetrahydrobiopterin) and to restore normal monoaminergic neurotransmission by administering precursors (L-dopa/carbidopa and 5-hydroxytryptophane)."; , , , , ; "GTPCH deficiency"@en, "Hyperphenylalaninemia due to GTP cyclohydrolase deficiency"@en; "GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases."@en; "orphanet"@en; "GARD:0002844", "ICD-10:E70.1", "ICD10:E70.1", "MONDO:0009314", "NCIT:C141442", "OMIM:233910", "SCTID:23447005", "UMLS:C0268467"; "GTP-cyclohydrolase I deficiency", "GTPCH deficiency", "Hyperphenylalaninemia due to GTP cyclohydrolase deficiency", "hyperphenylalaninemia due to GTP cyclohydrolase deficiency", "hyperphenylalaninemia, Bh4-deficient, type B"; "GTP cyclohydrolase 1 deficiency", "GTP cyclohydrolase I deficiency", "HPABH4B", "dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive", "hyperphenylalaninemia, BH4-deficient, B", "hyperphenylalaninemia, BH4-deficient, B; HPABH4B", "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency"; "Orphanet:2102"; , ; rdfs:label "GTP cyclohydrolase I deficiency", "GTP cyclohydrolase I deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency"^^xsd:anyURI; "ORPHA:2102" . _:af0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases. GTP-cyclohydrolase I deficiency should be suspected in all infants with a positive neonatal screening test for phenylketonuria, especially when hyperphenylalaninemia is moderate. The most effective way to diagnose the disorder is to measure pteridine levels in urine and to confirm the result by measuring neurotransmitters (5-hydroxyindolacetic acid, homovanillic acid) in cerebrospinal fluid and with an oral tetrahydrobiopterin-loading test (20 mg/kg). When left untreated, the deficiency causes neurological signs at age 4 or 5 months, although clinical signs are often obvious from birth. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. The treatment attempts to bring phenylalaninemia levels back to normal (diet with restricted phenylalanine intake or prescription of tetrahydrobiopterin) and to restore normal monoaminergic neurotransmission by administering precursors (L-dopa/carbidopa and 5-hydroxytryptophane)."; "Orphanet:2102", "https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency" . _:af0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002844"; "MONDO:equivalentTo" . _:af0ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15196; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15196 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "Attributed"@en . _:af15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "NTBT (narrower term maps to a broader term)"@en . _:af17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.1"; "ORDO:2102/attributed", "ORDO:2102/ntbt", "Orphanet:2102" . _:af18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C141442"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:af19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233910"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:af1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233910"; "MONDO:equivalentTo", "ORDO:2102/e", "Orphanet:2102" . _:af1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:23447005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:af1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268467"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:af1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268467"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:233910", "ORDO:2102/e", "Orphanet:2102" . _:af1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTP-cyclohydrolase I deficiency"; rdfs:comment "preferred label from MONDO" . _:af20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTPCH deficiency"; "Orphanet:2102" . _:af22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to GTP cyclohydrolase deficiency"; "Orphanet:2102" . _:af23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, Bh4-deficient, type B"; "MONDORULE:1", "OMIM:233910" . _:af26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTP cyclohydrolase 1 deficiency"; "OMIM:233910" . _:af27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTP cyclohydrolase I deficiency"; "Orphanet:2102" . _:af2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPABH4B"; "MONDO:Lexical", "OMIM:233910" . _:af2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive"; "OMIM:233910" . _:af2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, B"; "GARD:0002844", "MONDO:Lexical", "OMIM:233910" . _:af30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, B; HPABH4B"; "OMIM:233910" . _:af31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency"; "OMIM:233910" . _:af32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002844" . _:af33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2102" . _:af34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency"^^xsd:anyURI; "GARD:0002844" . a owl:Class; rdfs:subClassOf , ; "UMLS:C0282607"; rdfs:label "Rare vascular tumor"@en; "ORPHA:211237" . _:af37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0282607"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "An instance of vascular anomaly that is caused by a modification of the individual's genome."; ; "MONDO:0016229"; "genetic vascular anomaly"; "Orphanet:211240"; ; rdfs:label "Genetic vascular anomaly" . _:af3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of vascular anomaly that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:af41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic vascular anomaly"; "MONDO:patterns/genetic" . _:af42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic vascular anomaly"; rdfs:comment "preferred label from MONDO" . _:af43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:211240" . a owl:Class; rdfs:subClassOf , , , , , ; "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)."; , , , , ; , , , , , , , ; "Protein defect of cystin transport"@en; "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)."@en; "orphanet", "orphanet"@en; "DOID:1064", "GARD:0006236", "ICD-10:E72.0", "ICD10:E72.0", "ICD10:E72.04", "MESH:D003554", "MONDO:0016239", "MSH:D003554", "MeSH:D003554", "MedDRA:10011777", "NCIT:C2976", "OMIM:219750", "OMIM:219800", "OMIM:219900", "SCTID:190681003", "UMLS:C0010690", "UMLS:CN035091"; "Protein defect of cystin transport", "cystine storage disease", "cystinosis"; "Cystinoses", "cystine diathesis", "cystine disease"; "Orphanet:213"; , ; rdfs:label "Cystinosis", "Cystinosis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6236/cystinosis"^^xsd:anyURI; "ORPHA:213" . _:af4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)."; "Orphanet:213" . _:af50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1064"; "MONDO:equivalentTo" . _:af52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006236"; "MONDO:equivalentTo" . _:af53d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15228; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15228 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:af56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "NTBT (narrower term maps to a broader term)"@en . _:af57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.0"; "ORDO:213/inclusion", "ORDO:213/ntbt", "Orphanet:213" . _:af58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.04"; "DOID:1064", "MONDO:equivalentTo" . _:af59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003554"; "DOID:1064", "MONDO:equivalentTo", "ORDO:213/e", "Orphanet:213" . _:af5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D003554"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:af5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011777"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:af5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011777"; "ORDO:213/e", "Orphanet:213" . _:af5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2976"; "DOID:1064", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:af5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:219750"; "BTNT (broader term maps to a narrower term)"@en . _:af5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:219800"; "BTNT (broader term maps to a narrower term)"@en . _:af60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:219900"; "BTNT (broader term maps to a narrower term)"@en . _:af61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190681003"; "DOID:1064", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/10.25" . _:af62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010690"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:af64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010690"; "MONDO:equivalentTo", "NCIT:C2976", "ORDO:213/e", "Orphanet:213" . _:af65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN035091"; "MONDO:equivalentTo" . _:af68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein defect of cystin transport"; "Orphanet:213" . _:af69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystine storage disease"; "CSP2005:1849-0607", "DOID:1064" . _:af6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinosis"; rdfs:comment "preferred label from MONDO" . _:af6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cystinoses"; "GARD:0006236" . _:af6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystine diathesis"; "GARD:0006236" . _:af71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystine disease"; "GARD:0006236" . _:af72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006236" . _:af74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:213" . _:af76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6236/cystinosis"^^xsd:anyURI; "GARD:0006236" . a owl:Class; rdfs:subClassOf ; "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity."; , , , , ; "Longitudinal meromelia"@en; "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity."@en; "orphanet", "orphanet"@en; "ICD-10:Q71.8", "ICD-10:Q72.8", "ICD-10:Q73.8", "ICD10:Q71.8", "ICD10:Q72", "ICD10:Q72.8", "ICD10:Q73.8", "MONDO:0016240", "MedDRA:10019464", "NCIT:C34674", "SCTID:33076008", "UMLS:C0018987"; "Longitudinal meromelia", "hemimelia", "longitudinal meromelia"; "Orphanet:2130"; ; rdfs:label "Hemimelia", "Hemimelia"@en; "ORPHA:2130" . _:af7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity."; "Orphanet:2130" . _:af7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.8"; "Attributed"@en . _:af7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.8"; "NTBT (narrower term maps to a broader term)"@en . _:af7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.8"; "Attributed"@en . _:af81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.8"; "NTBT (narrower term maps to a broader term)"@en . _:af82d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15259; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15259 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.8"; "Attributed"@en . _:af85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.8"; "NTBT (narrower term maps to a broader term)"@en . _:af87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.8"; "ORDO:2130/attributed", "ORDO:2130/ntbt", "Orphanet:2130" . _:af89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.8"; "ORDO:2130/attributed", "ORDO:2130/ntbt", "Orphanet:2130" . _:af8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q73.8"; "ORDO:2130/attributed", "ORDO:2130/ntbt", "Orphanet:2130" . _:af8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019464"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:af8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019464"; "ORDO:2130/e", "Orphanet:2130" . _:af92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34674"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:af94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:33076008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/15.07" . _:af97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018987"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:af9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018987"; "MONDO:equivalentTo", "NCIT:C34674", "ORDO:2130/e", "Orphanet:2130" . _:af9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemimelia"; rdfs:comment "preferred label from MONDO" . _:af9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "longitudinal meromelia"; "Orphanet:2130" . _:af9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2130" . a owl:Class; rdfs:subClassOf , ; "Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment."; ; , , , , , ; "AHC"@en; "A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep."@en; "orphanet", "orphanet"@en; "DOID:0050635", "GARD:0000011", "ICD-10:G98", "ICD10:G98", "MESH:C536589", "MONDO:0016241", "MSH:C536589", "MeSH:C536589", "NCIT:C35261", "OMIM:104290", "OMIM:614820", "OMIMPS:104290", "SCTID:230466004", "UMLS:C0338488"; "AHC", "Alternating hemiplegia in childhood", "adrenal hypoplasia congenita", "alternating hemiplegia of childhood", "childhood alternating hemiplegia", "congenital adrenal Hypoplasia", "congenital adrenal gland hypoplasia", "pediatric alternating hemiplegia"; "alternating hemiplegia", "alternating hemiplegia syndrome", "pediatric alternating hemiplegia"; "Orphanet:2131"; , ; rdfs:label "Alternating hemiplegia of childhood", "Alternating hemiplegia of childhood"@en; "ORPHA:2131" . _:afa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment."; "Orphanet:2131" . _:afa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050635"; "MONDO:equivalentTo" . _:afa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000011"; "MONDO:equivalentTo" . _:afabd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15277; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15277 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G98"; "Attributed"@en . _:afacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G98"; "NTBT (narrower term maps to a broader term)"@en . _:afadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G98"; "DOID:0050635", "ORDO:2131/attributed", "ORDO:2131/ntbt", "Orphanet:2131" . _:afb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536589"; "MONDO:equivalentTo", "ORDO:2131/e", "Orphanet:2131" . _:afb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536589"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:afb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35261"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.76/1.26" . _:afb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:104290"; "BTNT (broader term maps to a narrower term)"@en . _:afb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614820"; "BTNT (broader term maps to a narrower term)"@en . _:afb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:104290"; "MONDO:cjm", "MONDO:equivalentTo" . _:afc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230466004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:afc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0338488"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:afc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0338488"; "MONDO:equivalentTo", "ORDO:2131/e", "Orphanet:2131" . _:afcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AHC"; "DOID:0050635", "Orphanet:2131" . _:afcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hypoplasia congenita"; "NCIT:C35261" . _:afcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alternating hemiplegia of childhood"; "MONDO:patterns/childhood" . _:afd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alternating hemiplegia of childhood"; rdfs:comment "preferred label from MONDO" . _:afd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "childhood alternating hemiplegia"; "MONDO:design_pattern" . _:afd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal Hypoplasia"; "NCIT:C35261" . _:afd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal gland hypoplasia"; "NCIT:C35261" . _:afd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric alternating hemiplegia"; "MONDO:design_pattern", "MONDO:patterns/childhood" . _:afd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alternating hemiplegia"; "GARD:0000011" . _:afd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alternating hemiplegia syndrome"; "GARD:0000011" . _:afd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric alternating hemiplegia"; "MONDO:patterns/childhood" . _:afdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2131" . a owl:Class; rdfs:subClassOf , , , , , ; "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction."; , , , , , ; "Atypical HUS"@en, "D-HUS"@en, "Hemolytic-uremic syndrome without diarrhea"@en, "aHUS"@en; "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction."@en; "orphanet"@en; "DOID:0080301", "GARD:0006240", "GARD:0008702", "ICD-10:D58.8", "ICD10:D58.8", "MESH:D065766", "MONDO:0016244", "MSH:C538266", "MeSH:C538266", "NCIT:C123223", "OMIM:235400", "OMIM:609814", "OMIM:612922", "OMIM:612923", "OMIM:612924", "OMIM:612925", "OMIM:612926", "OMIM:615008", "UMLS:C2931788"; "Atypical HUS", "D-HUS", "Hemolytic-uremic syndrome without diarrhea", "aHUS", "atypical HUS", "atypical hemolytic uremic syndrome", "atypical hemolytic-uremic syndrome", "hemolytic-uremic syndrome without diarrhea", "non-diarrhea-associated hemolytic uremic syndrome"; "D-minus hemolytic uremic syndrome (D-HUS)", "HUS, atypical"; "Orphanet:2134"; , ; rdfs:label "Atypical hemolytic-uremic syndrome", "Atypical hemolytic-uremic syndrome"@en; "ORPHA:2134" . _:afe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction."; "Orphanet:2134" . _:afe3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080301"; "MONDO:equivalentTo" . _:afe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006240"; "MONDO:equivalentTo" . _:afe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008702"; "DOID:0080301", "MONDO:equivalentTo" . _:afe9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15306; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15306 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D58.8"; "Attributed"@en . _:afecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D58.8"; "NTBT (narrower term maps to a broader term)"@en . _:afeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D58.8"; "ORDO:2134/attributed", "ORDO:2134/ntbt", "Orphanet:2134" . _:aff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D065766"; "MONDO:equivalentTo", "MONDO:ontobio" . _:aff2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538266"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:aff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123223"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.66/0.29/0.11" . _:aff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:235400"; "BTNT (broader term maps to a narrower term)"@en . _:aff6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609814"; "BTNT (broader term maps to a narrower term)"@en . _:aff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612922"; "BTNT (broader term maps to a narrower term)"@en . _:affad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612923"; "BTNT (broader term maps to a narrower term)"@en . _:affcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612924"; "BTNT (broader term maps to a narrower term)"@en . _:b00bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612925"; "BTNT (broader term maps to a narrower term)"@en . _:b00dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612926"; "BTNT (broader term maps to a narrower term)"@en . _:b00fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615008"; "BTNT (broader term maps to a narrower term)"@en . _:b011d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931788"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b017d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931788"; "GARD:0008702", "MONDO:equivalentTo", "NCIT:C123223", "ORDO:2134/e", "Orphanet:2134" . _:b018d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "D-HUS"; "Orphanet:2134" . _:b019d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aHUS"; "GARD:0008702", "Orphanet:2134" . _:b01dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical HUS"; "GARD:0008702", "Orphanet:2134" . _:b01ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical hemolytic uremic syndrome"; "NCIT:C123223" . _:b01fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical hemolytic-uremic syndrome"; rdfs:comment "preferred label from MONDO" . _:b021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemolytic-uremic syndrome without diarrhea"; "Orphanet:2134" . _:b023d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-diarrhea-associated hemolytic uremic syndrome"; "NCIT:C123223" . _:b025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "D-minus hemolytic uremic syndrome (D-HUS)"; "GARD:0006240" . _:b026d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUS, atypical"; "GARD:0008702" . _:b027d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2134" . a owl:Class; rdfs:subClassOf ; "Ovarian malignant tumor"@en; "UMLS:C1140680"; rdfs:label "Ovarian cancer"@en; "ORPHA:213500" . _:b028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1140680"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome."; , ; ; "Familial ovarian malignant tumor"@en; "ICD-10:C56", "ICD10:C56", "MONDO:0016248", "UMLS:CN201036"; "Familial ovarian malignant tumor", "familial ovarian cancer", "familial ovarian malignant tumor", "hereditary ovarian cancer"; "Orphanet:213517"; ; rdfs:comment "Editor note: TODO check why ORDO classifies as non-epithelial. ORDO uses this to classifying Hereditary breast and ovarian cancer syndrome + Hereditary site-specific ovarian cancer syndrome. See also familiar ovarian carcinoma, consider merge"; rdfs:label "Familial ovarian cancer", "Familial ovarian cancer"@en; "ORPHA:213517" . _:b02dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:b02fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:213517" . _:b034d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15336; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15336 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C56"; "Attributed"@en . _:b03bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C56"; "NTBT (narrower term maps to a broader term)"@en . _:b03dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C56"; "ORDO:213517/attributed", "ORDO:213517/ntbt", "Orphanet:213517" . _:b03ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201036"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:b03fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial ovarian cancer"; rdfs:comment "preferred label from MONDO" . _:b040d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial ovarian malignant tumor"; "Orphanet:213517" . _:b041d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary ovarian cancer"; "MONDO:patterns/hereditary" . _:b042d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:213517" . a owl:Class; rdfs:subClassOf , , , ; ", confer an elevated ovarian cancer risk in a minority of patients."; , ; "Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients."@en; "orphanet"@en; "ICD-10:C56", "ICD10:C56", "MONDO:0016249", "UMLS:CN201037"; "hereditary site-specific ovarian cancer syndrome"; "Orphanet:213524"; ; rdfs:label "Hereditary site-specific ovarian cancer syndrome", "Hereditary site-specific ovarian cancer syndrome"@en; "ORPHA:213524" . _:b043d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ", confer an elevated ovarian cancer risk in a minority of patients."; "Orphanet:213524" . _:b045d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15346; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15346 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C56"; "Attributed"@en . _:b04ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C56"; "NTBT (narrower term maps to a broader term)"@en . _:b04dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C56"; "ORDO:213524/attributed", "ORDO:213524/ntbt", "Orphanet:213524" . _:b051d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201037"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b053d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary site-specific ovarian cancer syndrome"; rdfs:comment "preferred label from MONDO" . _:b058d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:213524" . a owl:Class; rdfs:subClassOf ; "Chronic autoimmune hepatitis"@en; "Chronic autoimmune hepatitis (AIH) is a rare progressive inflammatory disorder of unknown cause primarily affecting women and associated with circulating autoantibodies, elevated transaminase levels, and increased levels of immunoglobulin."@en; "orphanet"@en; "ICD-10:K75.4", "MedDRA:10003827", "UMLS:C0241910"; rdfs:label "Autoimmune hepatitis"@en; "ORPHA:2137" . _:b05ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K75.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b05cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10003827"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b05dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0241910"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype."; ; , , , , , ; "46,XX ovotesticular DSD"@en; "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype."@en; "orphanet", "orphanet"@en; "ICD-10:Q56.0", "ICD10:Q56.0", "MESH:D050090", "MONDO:0016281", "MSH:D050090", "MeSH:D050090", "NCIT:C127167", "OMIM:400045", "OMIM:617480", "SCTID:18978002", "UMLS:C0266361", "UMLS:C2748895", "UMLS:CN776920"; "46,XX ovotesticular DSD", "46,XX ovotesticular disorder of sex development", "True hermaphroditism", "ovotesticular DSD", "ovotesticular differences of Sex development", "ovotesticular disorders of Sex development", "true hermaphroditism"; "Orphanet:2138"; ; rdfs:label "46,XX ovotesticular disorder of sex development", "46,XX ovotesticular disorder of sex development"@en; "ORPHA:2138" . _:b063d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype."; "Orphanet:2138" . _:b064d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15357; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15357 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.0"; "Attributed"@en . _:b065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.0"; "NTBT (narrower term maps to a broader term)"@en . _:b066d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56.0"; "ORDO:2138/attributed", "ORDO:2138/ntbt", "Orphanet:2138" . _:b068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D050090"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2138/e", "Orphanet:2138" . _:b069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D050090"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b06bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C127167"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.84/0.33" . _:b06cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:400045"; "NTBT (narrower term maps to a broader term)"@en . _:b06dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617480"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b06ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:18978002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.89" . _:b071d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266361"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2748895"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b073d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2748895"; "MONDO:equivalentTo", "NCIT:C127167", "ORDO:2138/e", "Orphanet:2138" . _:b075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776920"; "MONDO:equivalentTo" . _:b076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX ovotesticular DSD"; "Orphanet:2138" . _:b078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX ovotesticular disorder of sex development"; rdfs:comment "preferred label from MONDO" . _:b079d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovotesticular DSD"; "NCIT:C127167" . _:b07ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovotesticular differences of Sex development"; "NCIT:C127167" . _:b07bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovotesticular disorders of Sex development"; "NCIT:C127167" . _:b07dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "true hermaphroditism"; "Orphanet:2138" . _:b07ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2138" . a owl:Class; rdfs:subClassOf , , , , , ; "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones."; , , , ; , , , , , , , , ; "Cystinuria-lysinuria syndrome"@en; "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones."@en; "orphanet", "orphanet"@en; "DOID:9266", "GARD:0006237", "HP:0003131", "ICD-10:E72.0", "ICD10:E72.0", "ICD10:E72.01", "MESH:D003555", "MONDO:0009067", "MSH:D003555", "MeSH:D003555", "MedDRA:10011778", "NCIT:C84664", "OMIM:220100", "SCTID:85020001", "UMLS:C0010691", "UMLS:C0268646"; "Cystinuria - lysinuria", "cystinuria", "cystinuria (disease)", "cystinuria-lysinuria syndrome"; "CSNU", "cystinuria, type A/B", "cystinuria, type B", "cystinuria, type I", "cystinuria, type I, formerly", "cystinuria, type II", "cystinuria, type II, formerly", "cystinuria, type III", "cystinuria, type III, formerly", "cystinuria, type a", "cystinuria, type non-I", "cystinuria, type non-I, formerly", "cystinuria-lysinuria"; "Orphanet:214"; , ; rdfs:label "Cystinuria", "Cystinuria"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6237/cystinuria"^^xsd:anyURI; "ORPHA:214" . _:b087d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones."; "Orphanet:214" . _:b088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9266"; "MONDO:equivalentTo" . _:b08dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006237"; "MONDO:equivalentTo" . _:b08ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0003131"; "MONDO:otherHierarchy", "ontobio" . _:b08fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15382; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:b090d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "NTBT (narrower term maps to a broader term)"@en . _:b091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.0"; "ORDO:214/inclusion", "ORDO:214/ntbt", "Orphanet:214" . _:b092d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.01"; "DOID:9266" . _:b094d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003555"; "DOID:9266", "MONDO:equivalentTo", "ORDO:214/e", "Orphanet:214" . _:b096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D003555"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b098d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011778"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b099d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011778"; "ORDO:214/e", "Orphanet:214" . _:b09ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84664"; "DOID:9266", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:b0a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:220100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:220100"; "DOID:9266", "GARD:0006237", "MONDO:equivalentTo", "ORDO:214/e", "Orphanet:214" . _:b0a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:85020001"; "DOID:9266", "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.47/0.06" . _:b0a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010691"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010691"; "DOID:9266", "GARD:0006237", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84664", "OMIM:220100", "ORDO:214/e", "Orphanet:214" . _:b0abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268646"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria"; "MONDO:ambiguous", "OMIM:220100" . _:b0b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria (disease)"; rdfs:comment "preferred label from MONDO" . _:b0b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria-lysinuria syndrome"; "Orphanet:214" . _:b0b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSNU"; "GARD:0006237", "OMIM:220100" . _:b0b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type A/B"; "OMIM:220100" . _:b0b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type B"; "OMIM:220100" . _:b0b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type I"; "OMIM:220100" . _:b0b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type I, formerly"; "OMIM:220100" . _:b0bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type II"; "OMIM:220100" . _:b0bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type II, formerly"; "OMIM:220100" . _:b0bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type III"; "OMIM:220100" . _:b0bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type III, formerly"; "OMIM:220100" . _:b0c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type a"; "OMIM:220100" . _:b0c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type non-I"; "OMIM:220100" . _:b0c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria, type non-I, formerly"; "OMIM:220100" . _:b0c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystinuria-lysinuria"; "GARD:0006237" . _:b0c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:214" . _:b0cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6237/cystinuria"^^xsd:anyURI; "GARD:0006237" . a owl:Class; rdfs:subClassOf ; "CDH"@en; "Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality."@en; "orphanet"@en; "ICD-10:Q79.0", "MeSH:C538080", "MedDRA:10010439", "OMIM:142340", "OMIM:222400", "OMIM:306950", "OMIM:610187", "UMLS:C0235833"; rdfs:label "Congenital diaphragmatic hernia"@en; "ORPHA:2140" . _:b0cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538080"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010439"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:142340"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:222400"; "BTNT (broader term maps to a narrower term)"@en . _:b0d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:306950"; "BTNT (broader term maps to a narrower term)"@en . _:b0d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610187"; "BTNT (broader term maps to a narrower term)"@en . _:b0dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0235833"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina."; , , , , , ; "NCL"@en; "Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina."@en; "orphanet", "orphanet"@en; "DOID:14503", "GARD:0010739", "ICD-10:E75.4", "ICD10:E75.4", "MONDO:0016295", "MSH:D009472", "MeSH:D009472", "NCIT:C61257", "NCIt:C61257", "OMIMPS:256730", "SCTID:42012007", "SNOMEDCT:42012007", "UMLS:C0027877"; "NCL", "ceroid lipofuscinoses", "hereditary ceroid lipofuscinosis", "neuronal ceroid lipofuscinosis"; "Orphanet:216"; ; rdfs:label "Neuronal ceroid lipofuscinosis", "Neuronal ceroid lipofuscinosis"@en; "ORPHA:216" . _:b0e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina."; "Orphanet:216" . _:b0e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14503"; "MONDO:equivalentTo" . _:b0e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010739"; "MONDO:equivalentTo", "Orphanet-shared" . _:b0e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0e7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15428; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15428 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.4"; "Specific code (The term has its own code in the ICD10)"@en . _:b0e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.4"; "DOID:14503", "MONDO:equivalentTo", "ORDO:216/e", "ORDO:216/specific", "Orphanet:216" . _:b0ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009472"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61257"; "DOID:14503", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:b0efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:256730"; "DOID:14503", "MONDO:equivalentTo" . _:b0f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42012007"; "DOID:14503", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:b0f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027877"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b0f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027877"; "DOID:14503", "MONDO:equivalentTo", "NCIT:C61257", "ORDO:216/e", "Orphanet:216" . _:b0fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCL"; "Orphanet:216" . _:b0fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ceroid lipofuscinoses"; "OMIMPS:256730" . _:b0fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary ceroid lipofuscinosis"; "CSP2005:1849-6833", "DOID:14503" . _:b103d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuronal ceroid lipofuscinosis"; rdfs:comment "preferred label from MONDO" . _:b104d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:216" . a owl:Class; rdfs:subClassOf , , , , , , ; "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity."; , ; , , , , , , ; "HPE"@en; "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity."@en; "orphanet", "orphanet"@en; "DOID:4621", "GARD:0006665", "ICD-10:Q04.2", "ICD10:Q04.2", "MESH:D016142", "MONDO:0016296", "MSH:D016142", "MeSH:D016142", "MedDRA:10056304", "NCIT:C74988", "OMIM:142945", "OMIM:142946", "OMIM:147250", "OMIM:157170", "OMIM:236100", "OMIM:605934", "OMIM:609408", "OMIM:609637", "OMIM:610828", "OMIM:610829", "OMIM:612530", "OMIM:614226", "OMIMPS:236100", "SCTID:30915001", "UMLS:C0079541", "UMLS:C3711749"; "HPE", "Holoprosencephaly Sequence", "holoprosencephaly", "holoprosencephaly sequence"; "Orphanet:2162"; , ; rdfs:label "Holoprosencephaly", "Holoprosencephaly"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly"^^xsd:anyURI; "ORPHA:2162" . _:b10bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity."; "Orphanet:2162" . _:b10ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4621"; "MONDO:equivalentTo" . _:b110d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006665"; "MONDO:equivalentTo" . _:b111d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b112d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15446; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15446 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.2"; "Specific code (The term has its own code in the ICD10)"@en . _:b115d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.2"; "DOID:4621", "MONDO:equivalentTo", "ORDO:2162/e", "ORDO:2162/specific", "Orphanet:2162" . _:b137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016142"; "DOID:4621", "MONDO:equivalentTo", "ORDO:2162/e", "Orphanet:2162" . _:b13ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016142"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b13bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056304"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b13cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056304"; "ORDO:2162/e", "Orphanet:2162" . _:b13fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C74988"; "DOID:4621", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:b141d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:142945"; "BTNT (broader term maps to a narrower term)"@en . _:b142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:142946"; "BTNT (broader term maps to a narrower term)"@en . _:b143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147250"; "BTNT (broader term maps to a narrower term)"@en . _:b144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:157170"; "BTNT (broader term maps to a narrower term)"@en . _:b146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b149d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605934"; "BTNT (broader term maps to a narrower term)"@en . _:b14ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609408"; "BTNT (broader term maps to a narrower term)"@en . _:b14bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609637"; "BTNT (broader term maps to a narrower term)"@en . _:b14cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610828"; "BTNT (broader term maps to a narrower term)"@en . _:b14ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610829"; "BTNT (broader term maps to a narrower term)"@en . _:b14fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612530"; "NTBT (narrower term maps to a broader term)"@en . _:b150d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614226"; "BTNT (broader term maps to a narrower term)"@en . _:b151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:236100"; "MONDO:cjm", "MONDO:equivalentTo" . _:b154d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30915001"; "DOID:4621", "MONDO:equivalentTo", "MONDO:kboom-pr-0.87/0.74/0.06" . _:b156d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079541"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079541"; "DOID:4621", "MONDO:equivalentTo", "NCIT:C74988", "ORDO:2162/e", "Orphanet:2162" . _:b158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3711749"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b15ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPE"; "Orphanet:2162" . _:b15bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "holoprosencephaly"; rdfs:comment "preferred label from MONDO" . _:b15cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "holoprosencephaly sequence"; "NCIT:C74988" . _:b15dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006665" . _:b15fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2162" . _:b161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly"^^xsd:anyURI; "GARD:0006665" . a owl:Class; rdfs:subClassOf , ; "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia."; , , , , , ; ; "Functional methionine synthase deficiency type cblE"@en; "DOID:0050732", "EFO:0005568", "GARD:0002732", "ICD-10:E72.1", "ICD10:E72.1", "MESH:C565510", "MONDO:0009354", "NCIT:C142173", "OMIM:236270", "UMLS:C1856057"; "Functional methionine synthase deficiency type cblE", "functional methionine synthase deficiency type cblE", "methylcobalamin deficiency type cblE"; "HMAE", "Vitamin B12-responsive homocystinuria, cblE type", "homocystinuria due to defect in methylation Cbl e", "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type", "homocystinuria-megaloblastic anemia, cblE complementation type", "homocystinuria-megaloblastic anemia, cblE complementation type; HMAE", "methylcobalamin deficiency, cblE type", "methylmalonic aciduria and homocystinuria type cblE"; "Orphanet:2169"; , ; rdfs:label "Methylcobalamin deficiency type cblE", "Methylcobalamin deficiency type cblE"@en; "ORPHA:2169" . _:b168d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia."; "NCIT:C142173" . _:b16ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:0050732" . _:b16bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050732"; "EFO:0005568", "MONDO:equivalentTo" . _:b16cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0005568"; "MONDO:equivalentTo" . _:b16dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002732"; "MONDO:equivalentTo" . _:b16ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15482; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:b16fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:b170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:2169/attributed", "ORDO:2169/ntbt", "Orphanet:2169" . _:b172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C565510"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C142173"; "MONDO:equivalentTo" . _:b176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236270"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b177d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236270"; "MONDO:equivalentTo", "ORDO:2169/e", "Orphanet:2169" . _:b178d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1856057"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b17fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1856057"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:236270", "Orphanet:2169" . _:b182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "functional methionine synthase deficiency type cblE"; "Orphanet:2169" . _:b184d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylcobalamin deficiency type cblE"; rdfs:comment "preferred label from MONDO" . _:b185d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMAE"; "MONDO:Lexical", "OMIM:236270" . _:b188d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin B12-responsive homocystinuria, cblE type"; "OMIM:236270" . _:b18ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria due to defect in methylation Cbl e"; "GARD:0002732" . _:b18cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type"; "OMIM:236270" . _:b18ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria-megaloblastic anemia, cblE complementation type"; "MONDO:Lexical", "OMIM:236270" . _:b18fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria-megaloblastic anemia, cblE complementation type; HMAE"; "OMIM:236270" . _:b191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylcobalamin deficiency, cblE type"; "OMIM:236270" . _:b193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria type cblE"; "DOID:0050732" . _:b194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2169" . a owl:Class; rdfs:subClassOf , , ; "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia . Methylcobalamin deficiency cbl G type is caused by changes ( mutations ) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12) . Some affected people may also require supplementation with folates and betaine ."; ; , , , ; "Functional methionine synthase deficiency type cblG"@en; "DOID:0050733", "EFO:0005597", "GARD:0002733", "GARD:0003577", "ICD-10:E72.1", "ICD10:E72.1", "MONDO:0009609", "OMIM:250940", "SCTID:721187005", "UMLS:C1855128"; "Functional methionine synthase deficiency type cblG", "functional methionine synthase deficiency type cblG", "methylcobalamin deficiency type cblG"; "HMAG", "cblG", "homocystinuria due to defect in methylation Cbl g", "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type", "homocystinuria-megaloblastic anemia, cblG complementation type", "homocystinuria-megaloblastic anemia, cblG complementation type; HMAG", "methionine synthase deficiency", "methylcobalamin deficiency Cbl G type", "methylcobalamin deficiency, cblG type", "methylmalonic aciduria and homocystinuria type cblG"; "Orphanet:2170"; , ; rdfs:label "Methylcobalamin deficiency type cblG", "Methylcobalamin deficiency type cblG"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type"^^xsd:anyURI; "ORPHA:2170" . _:b19ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia . Methylcobalamin deficiency cbl G type is caused by changes ( mutations ) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12) . Some affected people may also require supplementation with folates and betaine ."; "https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type" . _:b19bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050733"; "EFO:0005597", "MONDO:equivalentTo" . _:b19cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0005597"; "MONDO:equivalentTo" . _:b19dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002733"; "MONDO:equivalentTo" . _:b19ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003577"; "MONDO:equivalentTo" . _:b1a6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15508; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15508 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:b1aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:b1abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:2170/attributed", "ORDO:2170/ntbt", "Orphanet:2170" . _:b1acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:250940"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b1afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:250940"; "MONDO:equivalentTo", "ORDO:2170/e", "Orphanet:2170" . _:b1b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721187005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:b1b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855128"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b1b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "functional methionine synthase deficiency type cblG"; "Orphanet:2170" . _:b1b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylcobalamin deficiency type cblG"; rdfs:comment "preferred label from MONDO" . _:b1b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMAG"; "MONDO:Lexical", "OMIM:250940" . _:b1b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cblG"; "GARD:0003577" . _:b1b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria due to defect in methylation Cbl g"; "GARD:0002733" . _:b1b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type"; "OMIM:250940" . _:b1bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria-megaloblastic anemia, cblG complementation type"; "GARD:0003577", "MONDO:Lexical", "OMIM:250940" . _:b1bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria-megaloblastic anemia, cblG complementation type; HMAG"; "OMIM:250940" . _:b1bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methionine synthase deficiency"; "OMIM:250940" . _:b1bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylcobalamin deficiency Cbl G type"; "GARD:0003577" . _:b1c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylcobalamin deficiency, cblG type"; "OMIM:250940" . _:b1c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria type cblG"; "DOID:0050733" . _:b1c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003577" . _:b1c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2170" . _:b1c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type"^^xsd:anyURI; "GARD:0003577" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare non-syndromic cataract" . a owl:Class; rdfs:subClassOf , , , ; ; , , , , ; "DOID:0050719", "GARD:0010594", "ICD-10:G31.8", "ICD10:G31.8", "ICD9:266.2", "MESH:C567791", "MONDO:0013110", "OMIM:613068", "SCTID:711403001", "UMLS:C2751584"; "cerebral folate receptor alpha deficiency", "neurodegenerative syndrome due to cerebral folate transport deficiency"; "cerebral folate deficiency syndrome", "cerebral folate transport deficiency", "neurodegeneration due to cerebral folate TRANSPORT deficiency"; "Orphanet:217382"; ; rdfs:label "Neurodegenerative syndrome due to cerebral folate transport deficiency", "Neurodegenerative syndrome due to cerebral folate transport deficiency"@en; "ORPHA:217382" . _:b1ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050719"; "MONDO:equivalentTo" . _:b1d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010594"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:b1d1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15533; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15533 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G31.8"; "Attributed"@en . _:b1d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G31.8"; "NTBT (narrower term maps to a broader term)"@en . _:b1d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G31.8"; "ORDO:217382/attributed", "ORDO:217382/ntbt", "Orphanet:217382" . _:b1d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:266.2"; "MONDO:relatedTo", "i2s" . _:b1dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567791"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b1ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613068"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b1dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613068"; "MONDO:equivalentTo", "ORDO:217382/e", "Orphanet:217382" . _:b1e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:711403001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.88" . _:b1e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2751584"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b1e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurodegenerative syndrome due to cerebral folate transport deficiency"; rdfs:comment "preferred label from MONDO" . _:b1e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral folate deficiency syndrome"; "GARD:0010594" . _:b1e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral folate transport deficiency"; "GARD:0010594" . _:b1e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurodegeneration due to cerebral folate TRANSPORT deficiency"; "OMIM:613068" . _:b1e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217382" . a owl:Class; rdfs:subClassOf , , ; "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."; ; , , , ; "CID due to DOCK8 deficiency"@en, "Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency"@en, "DOCK8 immunodeficiency syndrome"@en; "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."@en; "orphanet", "orphanet"@en; "GARD:0002816", "ICD-10:D81.1", "ICD10:D81.1", "MONDO:0009478", "NCIT:C126343", "OMIM:243700", "UMLS:C1968689"; "CID due to DOCK8 deficiency", "Cid due to DOCK8 deficiency", "Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency", "DOCK8 immunodeficiency syndrome", "combined immunodeficiency due to DOCK8 deficiency", "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency", "dedicator of cytokinesis 8 deficiency"; "AR hyperimmunoglobulin E syndrome", "AR-HIES", "DOCK8 deficiency", "HIES autosomal recessive", "HIES, autosomal recessive", "autosomal recessive hyper IgE syndrome", "hyper Ig E syndrome, autosomal recessive", "hyper-IgE recurrent infection syndrome, autosomal recessive", "hyper-IgE syndrome, autosomal recessive", "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive"; "Orphanet:217390"; , ; rdfs:label "Combined immunodeficiency due to DOCK8 deficiency", "Combined immunodeficiency due to DOCK8 deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome"^^xsd:anyURI; "ORPHA:217390" . _:b1e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."; "Orphanet:217390" . _:b1ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002816"; "MONDO:equivalentTo" . _:b1ecd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15550; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15550 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "Attributed"@en . _:b1efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "NTBT (narrower term maps to a broader term)"@en . _:b1f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.1"; "ORDO:217390/attributed", "ORDO:217390/ntbt", "Orphanet:217390" . _:b1f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126343"; "MONDO:equivalentTo" . _:b1f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:243700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b1f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:243700"; "GARD:0002816", "MONDO:equivalentTo", "ORDO:217390/e", "Orphanet:217390" . _:b1fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1968689"; "GARD:0002816", "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:243700" . _:b1fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cid due to DOCK8 deficiency"; "Orphanet:217390" . _:b1ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOCK8 immunodeficiency syndrome"; "Orphanet:217390" . _:b200d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to DOCK8 deficiency"; rdfs:comment "preferred label from MONDO" . _:b202d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency"; "Orphanet:217390" . _:b204d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dedicator of cytokinesis 8 deficiency"; "NCIT:C126343" . _:b206d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AR hyperimmunoglobulin E syndrome"; "GARD:0002816" . _:b207d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AR-HIES"; "GARD:0002816" . _:b209d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOCK8 deficiency"; "GARD:0002816" . _:b20bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIES autosomal recessive"; "GARD:0002816" . _:b20dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIES, autosomal recessive"; "OMIM:243700" . _:b211d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive hyper IgE syndrome"; "GARD:0002816" . _:b212d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper Ig E syndrome, autosomal recessive"; "GARD:0002816" . _:b213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper-IgE recurrent infection syndrome, autosomal recessive"; "OMIM:243700" . _:b216d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper-IgE syndrome, autosomal recessive"; "OMIM:243700" . _:b218d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive"; "GARD:0002816" . _:b21ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217390" . _:b21bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome"^^xsd:anyURI; "GARD:0002816" . a owl:Class; rdfs:subClassOf , , ; , ; "ICD-10:D68.5", "ICD10:D68.5", "MONDO:0016320", "UMLS:C2584620"; "rare hereditary thrombophilia"; "Orphanet:217454"; , ; rdfs:label "Rare hereditary thrombophilia", "Rare hereditary thrombophilia"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:217454" . _:b21cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15575; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15575 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.5"; "Attributed"@en . _:b21dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.5"; "NTBT (narrower term maps to a broader term)"@en . _:b221d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.5"; "ORDO:217454/attributed", "ORDO:217454/ntbt", "Orphanet:217454" . _:b223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2584620"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b225d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2584620"; "MONDO:equivalentTo", "Orphanet:217454" . _:b227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hereditary thrombophilia"; rdfs:comment "preferred label from MONDO" . _:b228d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217454" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E74.0", "MONDO:0016325", "UMLS:CN201158"; "GSD with hypertrophic cardiomyopathy", "Glycogenosis with hypertrophic cardiomyopathy", "glycogen storage disease with hypertrophic cardiomyopathy", "glycogenosis with hypertrophic cardiomyopathy"; "Orphanet:217572"; ; rdfs:label "Glycogen storage disease with hypertrophic cardiomyopathy" . _:b22bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:relatedTo", "ORDO:217572/attributed", "ORDO:217572/ntbt", "Orphanet:217572" . _:b22ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201158"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:b230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD with hypertrophic cardiomyopathy"; "Orphanet:217572" . _:b232d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease with hypertrophic cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b234d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis with hypertrophic cardiomyopathy"; "Orphanet:217572" . _:b236d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217572" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0016326", "UMLS:CN201159"; "lysosomal disease with hypertrophic cardiomyopathy"; "Orphanet:217581"; ; rdfs:label "Lysosomal disease with hypertrophic cardiomyopathy" . _:b237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201159"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b238d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal disease with hypertrophic cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217581" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0016329", "UMLS:CN201161"; "familial syndrome associated with hypertrophic cardiomyopathy", "syndrome associated with hypertrophic cardiomyopathy"; "Orphanet:217595"; ; rdfs:label "Syndrome associated with hypertrophic cardiomyopathy" . _:b23ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201161"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b256d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial syndrome associated with hypertrophic cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b258d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with hypertrophic cardiomyopathy"; "Orphanet:217595" . _:b25cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217595" . a owl:Class; rdfs:subClassOf ; "ICD-10:I42.0", "MeSH:D002311", "MedDRA:10056370", "UMLS:C0007193"; rdfs:label "Dilated cardiomyopathy"@en; "ORPHA:217604" . _:b25fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I42.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b260d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002311"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056370"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b262d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007193"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."; , , ; "GARD:0000221", "GARD:0002905", "ICD-10:I42.0", "ICD10:I42.0", "MESH:C536231", "MONDO:0016333", "MSH:C536231", "MeSH:C536231", "OMIM:302045", "OMIM:601154", "OMIM:601493", "OMIM:601494", "OMIM:604145", "OMIM:604765", "OMIM:606685", "OMIM:607482", "OMIM:607487", "OMIM:608569", "OMIM:609909", "OMIM:611407", "OMIM:611615", "OMIM:611878", "OMIM:611879", "OMIM:611880", "OMIM:612158", "OMIM:612877", "OMIM:613122", "OMIM:613172", "OMIM:613252", "OMIM:613286", "OMIM:613424", "OMIM:613426", "OMIM:613642", "OMIM:613694", "OMIM:613697", "OMIM:613740", "OMIM:613881", "OMIM:614672", "OMIM:615184", "OMIM:615235", "OMIM:615248", "OMIM:615373", "OMIM:615396", "OMIMPS:115200", "UMLS:C0340427"; "familial dilated cardiomyopathy", "hereditary dilated cardiomyopathy"; "DCM", "dilated cardiomyopathy, familial", "hypokinetic dilated cardiomyopathy, familial", "idiopathic dilated cardiomyopathy"; "Orphanet:217607"; ; rdfs:comment "Editor note: unsure if GARD is familial form"; rdfs:label "Familial dilated cardiomyopathy", "Familial dilated cardiomyopathy"@en; "ORPHA:217607" . _:b26ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."; "https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy" . _:b26bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000221"; "MONDO:equivalentTo" . _:b26ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002905"; "MONDO:equivalentTo", "Orphanet-shared" . _:b26fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15603; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15603 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I42.0"; "Attributed"@en . _:b272d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I42.0"; "NTBT (narrower term maps to a broader term)"@en . _:b274d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.0"; "MONDO:subClassOf", "ORDO:217607/attributed", "ORDO:217607/ntbt", "Orphanet:217607" . _:b276d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536231"; "MONDO:equivalentTo", "ORDO:217607/e", "Orphanet:217607" . _:b277d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536231"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:115200"; "DOID:12930", "MONDO:equivalentTo" . _:b27bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0340427"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b282d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0340427"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:217607/e", "Orphanet:217607" . _:b284d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial dilated cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary dilated cardiomyopathy"; "MONDO:patterns/hereditary" . _:b288d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCM"; "GARD:0000221" . _:b28ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dilated cardiomyopathy, familial"; "GARD:0002905" . _:b28bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypokinetic dilated cardiomyopathy, familial"; "GARD:0002905" . _:b28cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic dilated cardiomyopathy"; "GARD:0000221" . _:b28dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217607" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0016334", "UMLS:CN201165"; "neuromuscular disease with dilated cardiomyopathy"; "Orphanet:217610"; ; rdfs:label "Neuromuscular disease with dilated cardiomyopathy", "Neuromuscular disease with dilated cardiomyopathy"@en; "ORPHA:217610" . _:b292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201165"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b295d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuromuscular disease with dilated cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b297d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217610" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0016335", "UMLS:CN201166"; "mitochondrial disease with dilated cardiomyopathy"; "Orphanet:217613"; ; rdfs:label "Mitochondrial disease with dilated cardiomyopathy", "Mitochondrial disease with dilated cardiomyopathy"@en; "ORPHA:217613" . _:b29cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201166"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b29ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial disease with dilated cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b2a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217613" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0016336", "UMLS:CN226905"; "fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy"; "Orphanet:217616"; ; rdfs:label "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy" . _:b2a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226905"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b2a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b2a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217616" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016337", "UMLS:CN201167"; "syndrome associated with dilated cardiomyopathy"; "Orphanet:217619"; ; rdfs:label "Syndrome associated with dilated cardiomyopathy" . _:b2aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201167"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b2acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with dilated cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b2add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217619" . a owl:Class; rdfs:subClassOf , , ; "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome."; , , ; "ICD9:425.4", "MONDO:0016340", "OMIM:115210", "OMIM:612422", "OMIM:615248", "OMIMPS:115210", "SCTID:233878008", "UMLS:C0340429"; "familial restrictive cardiomyopathy", "hereditary restrictive cardiomyopathy"; "Orphanet:217635"; ; rdfs:label "Familial restrictive cardiomyopathy" . _:b2b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:b2b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.4"; "MONDO:relatedTo", "i2s" . _:b2b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:115210"; "MONDO:cjm", "MONDO:equivalentTo" . _:b2b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:233878008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.76/1.00" . _:b2b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial restrictive cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b2bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary restrictive cardiomyopathy"; "MONDO:patterns/hereditary" . _:b2bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217635" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0016341", "UMLS:CN201171"; "lysosomal disease with restrictive cardiomyopathy"; "Orphanet:217638"; ; rdfs:label "Lysosomal disease with restrictive cardiomyopathy" . _:b2bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201171"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b2c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal disease with restrictive cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:b2c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:217638" . a owl:Class; rdfs:subClassOf , , ; "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.", "Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis."; ; , , , ; "Bickers-Adams syndrome"@en, "HSAS"@en, "X-linked HSAS"@en, "X-linked acqueductal stenosis"@en, "X-linked hydrocephalus"@en, "X-linked hydrocephalus with stenosis of aqueduct of Sylvius"@en; "Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis."@en; "orphanet", "orphanet"@en; "GARD:0000434", "ICD-10:Q03.0", "ICD10:Q03.0", "MONDO:0010611", "OMIM:307000", "SCTID:71779008", "UMLS:C0265216"; "Bickers-Adams syndrome", "HSAS", "X-linked HSAS", "X-linked acqueductal stenosis", "X-linked hydrocephalus", "X-linked hydrocephalus with stenosis of aqueduct of Sylvius", "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius", "hydrocephalus with stenosis of the aqueduct of Sylvius"; "HSAS1", "HYCX", "XLAS", "aqueductal stenosis, X-linked", "hydrocephalus due to congenital stenosis of aqueduct of Sylvius", "hydrocephalus due to congenital stenosis of aqueduct of Sylvius; HSAS", "hydrocephalus, X-linked", "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction"; "Orphanet:2182"; ; rdfs:label "Hydrocephalus with stenosis of the aqueduct of Sylvius", "Hydrocephalus with stenosis of the aqueduct of Sylvius"@en; "ORPHA:2182" . _:b2cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis."; "MONDO:cjm", "Orphanet:2182", "https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius", "https://www.ncbi.nlm.nih.gov/books/NBK1484/" . _:b2d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000434"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:b2d3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15643; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15643 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q03.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:b2d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q03.0"; "NTBT (narrower term maps to a broader term)"@en . _:b2d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q03.0"; "ORDO:2182/inclusion", "ORDO:2182/ntbt", "Orphanet:2182" . _:b2d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b2d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307000"; "MONDO:equivalentTo", "ORDO:2182/e", "Orphanet:2182" . _:b2d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:71779008"; "MONDO:equivalentTo" . _:b2dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265216"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b2dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bickers-Adams syndrome"; "Orphanet:2182" . _:b2dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSAS"; "MONDO:Lexical", "OMIM:307000", "Orphanet:2182" . _:b2ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked HSAS"; "Orphanet:2182" . _:b2e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked acqueductal stenosis"; "Orphanet:2182" . _:b2e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked hydrocephalus"; "Orphanet:2182" . _:b2e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked hydrocephalus with stenosis of aqueduct of Sylvius"; "Orphanet:2182" . _:b2e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius"; rdfs:comment "preferred label from MONDO" . _:b2e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydrocephalus with stenosis of the aqueduct of Sylvius"; "Orphanet:2182" . _:b2ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSAS1"; "OMIM:307000" . _:b2ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HYCX"; "GARD:0000434" . _:b2ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XLAS"; "GARD:0000434" . _:b2edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aqueductal stenosis, X-linked"; "OMIM:307000" . _:b2efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydrocephalus due to congenital stenosis of aqueduct of Sylvius"; "MONDO:Lexical", "OMIM:307000" . _:b2f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydrocephalus due to congenital stenosis of aqueduct of Sylvius; HSAS"; "OMIM:307000" . _:b2f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydrocephalus, X-linked"; "OMIM:307000" . _:b2f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction"; "OMIM:307000" . _:b2f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2182" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare cardiac rhythm disease"@en; "ORPHA:218436" . a owl:Class; rdfs:subClassOf , ; "Hydrocephalus that is present at birth."; , , , , ; ; "COHD:438244", "ICD10:Q03", "ICD10:Q03.0", "ICD10:Q03.1", "ICD10:Q03.8", "ICD10:Q03.9", "MONDO:0016349", "MedDRA:10010506", "NCIT:C98876", "OMIM:236600", "OMIM:615219", "OMIMPS:236600", "SCTID:47032000", "UMLS:C0020256"; "congenital hydrocephalus"; "HYC3"; "Orphanet:2185"; ; rdfs:label "Congenital hydrocephalus" . _:b2fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hydrocephalus that is present at birth."; "NCIT:C98876" . _:b2fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2185" . _:b2fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:438244"; "MONDO:equivalentTo" . _:b2fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q03"; "MONDO:equivalentTo" . _:b2ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q03.0"; "ORDO:2185/btnt", "ORDO:2185/specific", "Orphanet:2185" . _:b301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q03.1"; "ORDO:2185/btnt", "ORDO:2185/specific", "Orphanet:2185" . _:b302d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q03.8"; "ORDO:2185/btnt", "ORDO:2185/specific", "Orphanet:2185" . _:b304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q03.9"; "ORDO:2185/btnt", "ORDO:2185/specific", "Orphanet:2185" . _:b306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010506"; "ORDO:2185/e", "Orphanet:2185" . _:b307d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98876"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:b30ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:236600"; "MONDO:equivalentTo" . _:b30bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:47032000"; "MONDO:equivalentTo" . _:b30dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020256"; "MONDO:equivalentTo", "NCIT:C98876", "ORDO:2185/e", "Orphanet:2185" . _:b30fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hydrocephalus"; "MONDO:patterns/congenital" . _:b310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hydrocephalus"; rdfs:comment "preferred label from MONDO" . _:b312d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2185" . a owl:Class; rdfs:subClassOf , , ; "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy."; , , , , ; "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy."@en; "orphanet", "orphanet"@en; "COHD:4037874", "ICD-10:Q62.0", "ICD10:Q62.0", "ICD9:753.29", "MONDO:0007741", "MedDRA:10050975", "NCIT:C102979", "OMIM:143400", "SCTID:16297002", "UMLS:C0266316"; "congenital hydronephrosis"; "Orphanet:2190"; ; rdfs:comment "Editor note: TODO check relationship to OMIM:143400"; rdfs:label "Congenital hydronephrosis", "Congenital hydronephrosis"@en; "ORPHA:2190" . _:b31cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy."; "Orphanet:2190" . _:b31dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4037874"; "MONDO:equivalentTo" . _:b31ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q62.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b320d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15687; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15687 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q62.0"; "Specific code (The term has its own code in the ICD10)"@en . _:b322d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q62.0"; "MONDO:equivalentTo", "ORDO:2190/e", "ORDO:2190/specific", "Orphanet:2190" . _:b324d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:753.29"; "MONDO:relatedTo", "i2s" . _:b325d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050975"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b326d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050975"; "ORDO:2190/e", "Orphanet:2190" . _:b327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C102979"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:b329d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:143400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b32ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:16297002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.76/0.29" . _:b32cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266316"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b32dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266316"; "MONDO:equivalentTo", "NCIT:C102979", "ORDO:2190/e", "Orphanet:2190" . _:b32ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hydronephrosis"; rdfs:comment "preferred label from MONDO" . _:b32fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2190" . a owl:Class; rdfs:subClassOf , , , , ; ; ; "ICD-10:E83.5", "ICD10:E83.5", "MONDO:0016352", "OMIM:143870", "OMIM:607258", "UMLS:C0543800"; "idiopathic inherited hypercalciuria"; "idiopathic hypercalciuria"; "Orphanet:2197"; ; rdfs:comment "Editor note: consider grouping class"; rdfs:label "Idiopathic hypercalciuria", "Idiopathic hypercalciuria"@en; "ORPHA:2197" . _:b334d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15700; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15700 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:b337d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "NTBT (narrower term maps to a broader term)"@en . _:b33cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.5"; "ORDO:2197/inclusion", "ORDO:2197/ntbt", "Orphanet:2197" . _:b33dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:143870"; "BTNT (broader term maps to a narrower term)"@en . _:b33ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607258"; "BTNT (broader term maps to a narrower term)"@en . _:b33fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0543800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic inherited hypercalciuria"; rdfs:comment "preferred label from MONDO" . _:b341d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic hypercalciuria"; "Orphanet:2197" . _:b342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2197" . a owl:Class; rdfs:subClassOf , , , , , ; "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma."; , , , , , , , , ; "Drash syndrome"@en, "Wilms tumor-DSD syndrome"@en, "Wilms tumor-disorder of sex development syndrome"@en; "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma."@en; "orphanet"@en; "DOID:3764", "GARD:0005576", "ICD-10:N04.1", "ICD10:N04.1", "ICD9:189.0", "MESH:D030321", "MONDO:0008682", "MSH:D030321", "MeSH:D030321", "MedDRA:10070179", "NCIT:C84668", "OMIM:194080", "SCTID:236385009", "UMLS:C0950121", "UMLS:C3151568"; "Denys Drash syndrome", "Denys-Drash syndrome", "Drash syndrome", "Wilms tumor and pseudohermaphroditism", "nephrotic syndrome type 4"; "DDS", "Denys-Drash syndrome; DDS", "Wilms tumor and pseudo- or true hermaphroditism", "nephropathy associated with male pseudohermaphroditism and Wilms' tumor", "nephropathy, Wilms tumor, and genital anomalies", "pseudohermaphroditism, nephron disorder and Wilms' tumor"; "Orphanet:220"; ; rdfs:label "Denys-Drash syndrome", "Denys-Drash syndrome"@en; "ORPHA:220" . _:b34bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma."; "Orphanet:220" . _:b34cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3764"; "MONDO:equivalentTo" . _:b34ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005576"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:b34fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15713; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15713 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "Attributed"@en . _:b363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "NTBT (narrower term maps to a broader term)"@en . _:b364d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.1"; "ORDO:220/attributed", "ORDO:220/ntbt", "Orphanet:220" . _:b366d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:189.0"; "MONDO:relatedTo", "i2s" . _:b368d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D030321"; "DOID:3764", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:220/e", "Orphanet:220" . _:b36cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D030321"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b36dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070179"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b36fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070179"; "ORDO:220/e", "Orphanet:220" . _:b370d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84668"; "DOID:3764", "MONDO:equivalentTo" . _:b372d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194080"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194080"; "DOID:3764", "MONDO:equivalentTo", "ORDO:220/e", "Orphanet:220" . _:b377d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:236385009"; "DOID:3764", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:b37ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0950121"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b37cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0950121"; "DOID:3764", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84668", "OMIM:194080", "ORDO:220/e", "Orphanet:220" . _:b37fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151568"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:b380d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Denys Drash syndrome"; "NCIT:C84668" . _:b382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Denys-Drash syndrome"; "MONDO:Lexical", "OMIM:194080" . _:b387d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Denys-Drash syndrome"; rdfs:comment "preferred label from MONDO" . _:b388d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Drash syndrome"; "OMIM:194080", "Orphanet:220" . _:b389d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor and pseudohermaphroditism"; "Orphanet:220" . _:b38ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome type 4"; "NCIT:C84668" . _:b38dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DDS"; "MONDO:Lexical", "OMIM:194080" . _:b38fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Denys-Drash syndrome; DDS"; "OMIM:194080" . _:b390d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor and pseudo- or true hermaphroditism"; "OMIM:194080" . _:b391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy associated with male pseudohermaphroditism and Wilms' tumor"; "GARD:0005576" . _:b392d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy, Wilms tumor, and genital anomalies"; "OMIM:194080" . _:b393d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohermaphroditism, nephron disorder and Wilms' tumor"; "GARD:0005576" . _:b395d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:220" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:D69.1", "MONDO:0016361", "UMLS:CN226911"; "Inherited macrothrombocytopenia", "isolated hereditary giant platelet disorder", "isolated hereditary macrothrombocytopenia", "isolated inherited giant platelet disorder", "isolated inherited macrothrombocytopenia"; "Orphanet:220452"; ; rdfs:label "Inherited giant platelet disorder" . _:b39ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D69.1"; "ORDO:220452/attributed", "ORDO:220452/ntbt", "Orphanet:220452" . _:b39dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226911"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:b39fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated hereditary giant platelet disorder"; rdfs:comment "preferred label from MONDO" . _:b3a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated hereditary macrothrombocytopenia"; "Orphanet:220452" . _:b3a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated inherited giant platelet disorder"; "Orphanet:220452" . _:b3a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated inherited macrothrombocytopenia"; "Orphanet:220452" . _:b3a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:220452" . a owl:Class; rdfs:subClassOf ; "-related attenuated familial adenomatous polyposis.", "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features."; , , , , ; "orphanet"; "GARD:0008532", "ICD10:D12.6", "MESH:C538265", "MONDO:0016362", "MSH:C538265", "NCIT:C6729", "OMIM:175100", "OMIM:608456", "SCTID:715866009", "UMLS:C2674616"; "AAPC", "AFAP", "Attenuated FAP", "Attenuated familial polyposis coli", "HFAS", "attenuated FAP", "attenuated adenomatous polyposis coli", "attenuated familial adenomatous polyposis", "attenuated familial polyposis coli", "hereditary flat adenoma syndrome"; "mild form of FAP"; "Orphanet:220460"; ; rdfs:label "Attenuated familial adenomatous polyposis" . _:b3add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features."; "Orphanet:220460" . _:b3b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008532"; "MONDO:equivalentTo", "Orphanet-shared" . _:b3b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D12.6"; "ORDO:220460/attributed", "ORDO:220460/ntbt", "Orphanet:220460" . _:b3b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538265"; "MONDO:equivalentTo", "ORDO:220460/e", "Orphanet:220460" . _:b3b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C6729"; "MONDO:cjm", "MONDO:equivalentTo" . _:b3b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715866009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.83/0.34" . _:b3b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2674616"; "MONDO:equivalentTo", "NCIT:C6729", "ORDO:220460/e", "Orphanet:220460" . _:b3b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAPC"; "NCIT:C6729" . _:b3b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AFAP"; "NCIT:C6729", "Orphanet:220460" . _:b3b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HFAS"; "NCIT:C6729" . _:b3bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "attenuated FAP"; "Orphanet:220460" . _:b3bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "attenuated adenomatous polyposis coli"; "NCIT:C6729" . _:b3bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "attenuated familial adenomatous polyposis"; "NCIT:C6729" . _:b3bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "attenuated familial adenomatous polyposis"; rdfs:comment "preferred label from MONDO" . _:b3c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "attenuated familial polyposis coli"; "Orphanet:220460" . _:b3c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary flat adenoma syndrome"; "NCIT:C6729" . _:b3c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mild form of FAP"; "GARD:0008532" . _:b3c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:220460" . a owl:Class; rdfs:subClassOf , ; "Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease."; "Iron overload disease"@en; "Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease."@en; "orphanet", "orphanet"@en; "ICD-10:E83.1", "ICD10:E83.1", "UMLS:C0018995", "UMLS:C0282193"; "Iron overload disease"; rdfs:label "Rare hereditary hemochromatosis", "Rare hereditary hemochromatosis"@en; "ORPHA:220489" . _:b3c8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15767; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15767 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1"; "Attributed"@en . _:b3c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1"; "NTBT (narrower term maps to a broader term)"@en . _:b3cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018995"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b3ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0282193"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."; ; , , , , , ; "JS-R"@en; "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."@en; "orphanet", "orphanet"@en; "DOID:0110999", "GARD:0010169", "ICD-10:Q04.3", "ICD-10:Q61.5", "ICD10:Q04.3", "ICD10:Q61.5", "MESH:C536296", "MONDO:0012308", "NCIT:C74997", "OMIM:609583", "OMIM:611560", "OMIM:614424", "SCTID:716999001"; "JBTS4", "JS-R", "Joubert syndrome type 4", "Joubert syndrome with renal defect"; "Joubert syndrome 4", "Joubert syndrome 4; JBTS4", "Joubert syndrome with renal anomalies"; "Orphanet:220497"; , ; rdfs:label "Joubert syndrome with renal defect", "Joubert syndrome with renal defect"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies"^^xsd:anyURI; "ORPHA:220497" . _:b3d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."; "Orphanet:220497" . _:b3d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110999"; "MONDO:equivalentTo" . _:b3d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010169"; "MONDO:equivalentTo" . _:b3dcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15775; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15775 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "Attributed"@en . _:b3ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "NTBT (narrower term maps to a broader term)"@en . _:b3dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "Attributed"@en . _:b3e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "NTBT (narrower term maps to a broader term)"@en . _:b3e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "ORDO:220497/attributed", "ORDO:220497/ntbt", "Orphanet:220497" . _:b3e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.5"; "ORDO:220497/attributed", "ORDO:220497/ntbt", "Orphanet:220497" . _:b3e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536296"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b3eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C74997"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.36" . _:b3efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609583"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b3f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609583"; "DOID:0110999", "GARD:0010169", "MONDO:equivalentTo", "ORDO:220497/e", "Orphanet:220497" . _:b3f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611560"; "BTNT (broader term maps to a narrower term)"@en . _:b3f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614424"; "BTNT (broader term maps to a narrower term)"@en . _:b3f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716999001"; "MONDO:equivalentTo" . _:b3f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JBTS4"; "DOID:0110999", "GARD:0010169", "MONDO:Lexical", "OMIM:609583" . _:b3fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JS-R"; "Orphanet:220497" . _:b3fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome type 4"; "DOID:0110999", "MONDORULE:1", "OMIM:609583" . _:b400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with renal defect"; rdfs:comment "preferred label from MONDO" . _:b401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome 4"; "GARD:0010169", "MONDO:Lexical", "OMIM:609583" . _:b402d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome 4; JBTS4"; "OMIM:609583" . _:b403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with renal anomalies"; "GARD:0010169" . _:b405d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:220497" . _:b407d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies"^^xsd:anyURI; "GARD:0010169" . a owl:Class; rdfs:subClassOf , , , , ; "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome."; , ; "GARD:0002837", "ICD-10:E21.0", "ICD10:E21.0", "MONDO:0016365", "UMLS:CN201220"; "familial primary hyperparathyroidism", "hereditary primary hyperparathyroidism (disease)"; "Orphanet:2207"; ; rdfs:label "Familial primary hyperparathyroidism", "Familial primary hyperparathyroidism"@en; "ORPHA:2207" . _:b40dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:b40fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002837"; "MONDO:equivalentTo", "Orphanet-shared" . _:b411d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15800; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15800 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "Attributed"@en . _:b413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "NTBT (narrower term maps to a broader term)"@en . _:b414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E21.0"; "ORDO:2207/attributed", "ORDO:2207/ntbt", "Orphanet:2207" . _:b415d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201220"; "MONDO:equivalentTo" . _:b417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hyperparathyroidism"; rdfs:comment "preferred label from MONDO" . _:b419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary primary hyperparathyroidism (disease)"; "MONDO:patterns/hereditary" . _:b41bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2207" . a owl:Class; rdfs:subClassOf ; "Adult dermatomyositis"@en; "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness."@en; "orphanet"@en; "ICD-10:M33.0", "ICD-10:M33.1", "MeSH:D003882", "MedDRA:10012503", "UMLS:C0011633", "UMLS:C0221056"; rdfs:label "Dermatomyositis"@en; "ORPHA:221" . _:b41ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M33.0"; "NTBT (narrower term maps to a broader term)"@en . _:b420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M33.1"; "NTBT (narrower term maps to a broader term)"@en . _:b422d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D003882"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b424d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10012503"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b425d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011633"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b426d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221056"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13."; ; , , ; "Poikiloderma with neutropenia, Clericuzio type"@en; "Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features."@en; "orphanet"@en; "DOID:0060551", "GARD:0004085", "ICD-10:D82.8", "ICD10:D82.8", "MONDO:0011405", "OMIM:604173", "UMLS:C1858723"; "Poikiloderma with neutropenia, Clericuzio type", "poikiloderma with neutropenia", "poikiloderma with neutropenia, Clericuzio type"; "Clericuzio type poikiloderma with neutropenia", "PN", "poikiloderma with neutropenia Clericuzio type", "poikiloderma with neutropenia, Clericuzio-type", "poikiloderma with neutropenia; PN"; "Orphanet:221046"; ; rdfs:label "Poikiloderma with neutropenia", "Poikiloderma with neutropenia"@en; "ORPHA:221046" . _:b427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13."; "DOID:0060551", "PMID:20734427" . _:b428d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060551"; "MONDO:equivalentTo" . _:b429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004085"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:b42ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15817; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15817 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.8"; "Attributed"@en . _:b42bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.8"; "NTBT (narrower term maps to a broader term)"@en . _:b42dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D82.8"; "DOID:0060551", "ORDO:221046/attributed", "ORDO:221046/ntbt", "Orphanet:221046" . _:b430d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604173"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b432d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604173"; "DOID:0060551", "MONDO:equivalentTo", "ORDO:221046/e", "Orphanet:221046" . _:b434d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1858723"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma with neutropenia"; "MONDO:Lexical", "OMIM:604173" . _:b43ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma with neutropenia"; rdfs:comment "preferred label from MONDO" . _:b43bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma with neutropenia, Clericuzio type"; "Orphanet:221046" . _:b43dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clericuzio type poikiloderma with neutropenia"; "GARD:0004085" . _:b43ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PN"; "MONDO:Lexical", "OMIM:604173" . _:b440d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma with neutropenia Clericuzio type"; "GARD:0004085" . _:b441d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma with neutropenia, Clericuzio-type"; "OMIM:604173" . _:b444d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma with neutropenia; PN"; "OMIM:604173" . _:b445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:221046" . a owl:Class; rdfs:subClassOf , , ; ; "MONDO:0016382"; "hereditary poikiloderma"; "Orphanet:222628"; ; rdfs:label "Hereditary poikiloderma" . _:b449d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary poikiloderma"; rdfs:comment "preferred label from MONDO" . _:b44dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:222628" . a owl:Class; rdfs:subClassOf , , , , ; "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children."; ; , , , , , , ; "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children."@en; "orphanet"@en; "COHD:438476", "DOID:12387", "GARD:0007178", "ICD-10:N25.1", "ICD10:N25.1", "ICD9:588.1", "MESH:D018500", "MONDO:0016383", "MSH:D018500", "MeSH:D018500", "MedDRA:10029147", "NCIT:C84919", "OMIM:125800", "OMIM:304800", "SCTID:111395007", "UMLS:C0162283"; "nephrogenic diabetes insipidus"; "ADH resistant diabetes insipidus", "diabetes insipidus nephrogenic", "diabetes insipidus nephrogenic X-linked", "diabetes insipidus nephrogenic type 1", "vasopressin-resistant diabetes insipidus"; "Orphanet:223"; ; rdfs:label "Nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus"@en; "ORPHA:223" . _:b456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children."; "Orphanet:223" . _:b457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:438476"; "MONDO:equivalentTo" . _:b45ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12387"; "MONDO:equivalentTo" . _:b45cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007178"; "MONDO:equivalentTo", "Orphanet-shared" . _:b45dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b45ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15840; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15840 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.1"; "Specific code (The term has its own code in the ICD10)"@en . _:b460d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25.1"; "DOID:12387", "MONDO:equivalentTo", "ORDO:223/e", "ORDO:223/specific", "Orphanet:223" . _:b462d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.1"; "DOID:12387", "MONDO:equivalentTo", "i2s" . _:b463d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018500"; "DOID:12387", "MONDO:equivalentTo", "ORDO:223/e", "Orphanet:223" . _:b466d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b467d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029147"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b469d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029147"; "ORDO:223/e", "Orphanet:223" . _:b46cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84919"; "DOID:12387", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:b470d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:125800"; "BTNT (broader term maps to a narrower term)"@en . _:b471d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:304800"; "BTNT (broader term maps to a narrower term)"@en . _:b472d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:111395007"; "DOID:12387", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.74/1.72" . _:b48dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162283"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b48ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162283"; "DOID:12387", "MONDO:equivalentTo", "NCIT:C84919", "ORDO:223/e", "Orphanet:223" . _:b491d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrogenic diabetes insipidus"; rdfs:comment "preferred label from MONDO" . _:b494d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADH resistant diabetes insipidus"; "GARD:0007178" . _:b496d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes insipidus nephrogenic"; "GARD:0007178" . _:b497d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes insipidus nephrogenic X-linked"; "GARD:0007178" . _:b499d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes insipidus nephrogenic type 1"; "GARD:0007178" . _:b49bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vasopressin-resistant diabetes insipidus"; "DOID:12387" . _:b49cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:223" . a owl:Class; rdfs:subClassOf , , , , , ; "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease."; , , , , , , ; "Barakat syndrome"@en, "HDR syndrome"@en; "Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R)."@en; "orphanet"@en; "DOID:0060878", "GARD:0002911", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:C537907", "MONDO:0007797", "NCIT:C130983", "OMIM:146255", "SCTID:724282009", "UMLS:C1840333"; "Barakat syndrome", "HDR syndrome", "hypoparathyroidism, deafness, and renal anomalies syndrome", "hypoparathyroidism, sensorineural deafness, and renal disease", "hypoparathyroidism-deafness-renal disease syndrome"; "HDR", "hypoparathyroidism, sensorineural deafness, and renal disease; HDR", "hypoparathyroidism, sensorineural deafness, and renal dysplasia", "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome", "nephrosis, nerve deafness, and hypoparathyroidism"; "Orphanet:2237"; ; rdfs:label "Hypoparathyroidism - deafness - renal disease", "Hypoparathyroidism-sensorineural deafness-renal disease syndrome"@en; "ORPHA:2237" . _:b4a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease."; "Orphanet:2237" . _:b4a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060878"; "MONDO:equivalentTo" . _:b4a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002911"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:b4a8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15864; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15864 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:b4add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:b4afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "DOID:0060878", "ORDO:2237/attributed", "ORDO:2237/ntbt", "Orphanet:2237" . _:b4b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537907"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b4b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C130983"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:b4b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146255"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b4b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146255"; "DOID:0060878", "MONDO:equivalentTo", "ORDO:2237/e", "Orphanet:2237" . _:b4b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:724282009"; "MONDO:equivalentTo" . _:b4bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1840333"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b4bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1840333"; "DOID:0060878", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C130983", "OMIM:146255", "ORDO:2237/e", "Orphanet:2237" . _:b4c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Barakat syndrome"; "DOID:0060878", "OMIM:146255", "Orphanet:2237" . _:b4c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HDR syndrome"; "DOID:0060878", "Orphanet:2237" . _:b4c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, deafness, and renal anomalies syndrome"; "NCIT:C130983" . _:b4c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, sensorineural deafness, and renal disease"; "DOID:0060878", "MONDO:Lexical", "OMIM:146255" . _:b4c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-deafness-renal disease syndrome"; rdfs:comment "preferred label from MONDO" . _:b4c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HDR"; "MONDO:Lexical", "OMIM:146255" . _:b4c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, sensorineural deafness, and renal disease; HDR"; "OMIM:146255" . _:b4c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, sensorineural deafness, and renal dysplasia"; "GARD:0002911" . _:b4c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome"; "OMIM:146255" . _:b4cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrosis, nerve deafness, and hypoparathyroidism"; "OMIM:146255" . _:b4ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2237" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0016387", "OMIM:615917", "OMIM:615918", "OMIM:616045", "OMIM:616198", "OMIM:616239", "OMIM:616430", "OMIM:616539", "OMIM:616672", "UMLS:CN201288"; "OXPHOS disease", "OXPHOS system deficiency", "mitochondrial oxidative phosphorylation disorder"; "Orphanet:223713"; ; rdfs:label "Mitochondrial oxidative phosphorylation disorder" . _:b4d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615917"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b4d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615918"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b4d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616045"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b4dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616198"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b4dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616239"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b4ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616430"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b4e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616539"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b4e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616672"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b4e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201288"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:b4e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXPHOS disease"; "Orphanet:223713" . _:b4e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXPHOS system deficiency"; "doi:10.1136/jmg.2006.042168" . _:b4e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial oxidative phosphorylation disorder"; rdfs:comment "preferred label from MONDO" . _:b4e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:223713" . a owl:Class; rdfs:subClassOf ; "MedDRA:10006007", "UMLS:C0029463", "UMLS:C1704327"; rdfs:label "Bone sarcoma"@en; "ORPHA:223727" . _:b4ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10006007"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b4eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029463"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b4f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1704327"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "MeSH:D008223", "MedDRA:10025310", "UMLS:C0024299"; rdfs:label "Lymphoma"@en; "ORPHA:223735" . _:b4f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008223"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b4f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10025310"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b4f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024299"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects."; , , , ; "Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects."@en; "orphanet"@en; "ICD-10:E20.8", "ICD10:E20.8", "MESH:C537156", "MONDO:0016390", "MSH:C537156", "MeSH:C537156", "OMIM:146200", "OMIM:307700", "OMIM:601198", "OMIM:615361", "SCTID:725036000", "UMLS:C1832648"; "familial isolated hypoparathyroidism"; "Orphanet:2238"; ; rdfs:label "Familial isolated hypoparathyroidism", "Familial isolated hypoparathyroidism"@en; "ORPHA:2238" . _:b4f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects."; "Orphanet:2238" . _:b4fad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15906; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15906 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "Attributed"@en . _:b4fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "NTBT (narrower term maps to a broader term)"@en . _:b4fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.8"; "ORDO:2238/attributed", "ORDO:2238/ntbt", "Orphanet:2238" . _:b4ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537156"; "MONDO:equivalentTo", "ORDO:2238/e", "Orphanet:2238" . _:b500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537156"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b501d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146200"; "BTNT (broader term maps to a narrower term)"@en . _:b502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307700"; "BTNT (broader term maps to a narrower term)"@en . _:b503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601198"; "BTNT (broader term maps to a narrower term)"@en . _:b504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615361"; "BTNT (broader term maps to a narrower term)"@en . _:b505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725036000"; "MONDO:equivalentTo" . _:b506d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832648"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832648"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:2238/e", "Orphanet:2238" . _:b508d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial isolated hypoparathyroidism"; rdfs:comment "preferred label from MONDO" . _:b509d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2238" . a owl:Class; rdfs:subClassOf , ; "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)."; , ; , , , , ; "X-linked recessive hypoparathyroidism (XLHPT) is a very rare cause of hypoparathyroidism. It has been reported in two multigeneration families from Missouri. Affected males suffer from true neonatal idiopathic hypoparathyroidism leading to severe hypocalcemia with undetectable parathyroid hormone levels and epilepsy. They are also sterile. Carrier females are normocalcemic and asymptomatic. XLHPT is caused by congenital parathyroid gland agenesis. The XLHPT locus has been mapped to chromosome Xq26-q27, in a 1.5 Mb interval flanked by markers F9 and DXS984. Neonatal onset and parathyroid agenesis found at autopsy in one of the patients suggest that the gene involved in XLHPT plays a role in parathyroid gland development."@en; "orphanet"@en; "ICD-10:E20.8", "ICD10:E20.8", "MESH:C563238", "MONDO:0010618", "NCIT:C131079", "OMIM:146200", "OMIM:307700", "UMLS:CN201292"; "X-linked hypoparathyroidism", "familial isolated hypoparathyroidism due to agenesis of parathyroid gland"; "HYPX", "hypoparathyroidism, X-linked", "hypoparathyroidism, X-linked; HYPX", "parathyroid glands, agenesis of"; "Orphanet:2239"; ; rdfs:label "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland", "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"@en; "ORPHA:2239" . _:b50ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)."; "NCIT:C131079" . _:b50fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15922; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "Attributed"@en . _:b512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "NTBT (narrower term maps to a broader term)"@en . _:b514d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.8"; "ORDO:2239/attributed", "ORDO:2239/ntbt", "Orphanet:2239" . _:b516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563238"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131079"; "MONDO:equivalentTo" . _:b518d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146200"; "NTBT (narrower term maps to a broader term)"@en . _:b51ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b51cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307700"; "MONDO:equivalentTo", "ORDO:2239/e", "Orphanet:2239" . _:b51ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201292"; "MONDO:equivalentTo" . _:b520d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked hypoparathyroidism"; "NCIT:C131079" . _:b521d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial isolated hypoparathyroidism due to agenesis of parathyroid gland"; rdfs:comment "preferred label from MONDO" . _:b525d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HYPX"; "MONDO:Lexical", "OMIM:307700" . _:b528d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, X-linked"; "MONDO:Lexical", "OMIM:307700" . _:b529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, X-linked; HYPX"; "OMIM:307700" . _:b52cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid glands, agenesis of"; "OMIM:307700" . _:b52ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2239" . a owl:Class; rdfs:subClassOf ; "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life."; , , , , , ; "COHD:193323", "DOID:11717", "ICD10:P70.2", "ICD9:775.1", "MONDO:0016391", "MedDRA:10028933", "NCIT:C99248", "SCTID:49817004", "UMLS:C0158981"; "NDM", "congenital diabetes mellitus", "diabetes mellitus syndrome in newborn infant", "neonatal diabetes mellitus"; "Orphanet:224"; ; rdfs:label "Neonatal diabetes mellitus" . _:b534d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life."; "Orphanet:224" . _:b536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:193323"; "MONDO:equivalentTo" . _:b538d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11717"; "MONDO:equivalentTo" . _:b53ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:P70.2"; "DOID:11717", "MONDO:equivalentTo", "ORDO:224/e", "ORDO:224/specific", "Orphanet:224" . _:b53cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:775.1"; "DOID:11717", "MONDO:equivalentTo", "i2s" . _:b541d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028933"; "ORDO:224/e", "Orphanet:224" . _:b543d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99248"; "DOID:11717", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:b546d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:49817004"; "DOID:11717", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:b547d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0158981"; "DOID:11717", "MONDO:equivalentTo", "NCIT:C99248", "ORDO:224/e", "Orphanet:224" . _:b54ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NDM"; "Orphanet:224" . _:b54cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital diabetes mellitus"; "NCIT:C99248" . _:b54ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus syndrome in newborn infant"; "DOID:11717" . _:b54fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neonatal diabetes mellitus"; rdfs:comment "preferred label from MONDO" . _:b550d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:224" . a owl:Class; rdfs:subClassOf , , , ; "Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.", "Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis."; , , , , , , , ; "Berdon syndrome"@en, "MMIHS"@en, "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome"@en; "Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis."@en; "orphanet", "orphanet"@en; "DOID:0060610", "GARD:0003442", "ICD-10:Q43.8", "ICD10:Q43.8", "MESH:C536138", "MONDO:0007960", "NCIT:C98982", "OMIM:155310", "OMIM:249210", "SCTID:253781004", "UMLS:C1608393"; "Berdon syndrome", "MMIH syndrome", "MMIHS", "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome", "megacystis, microcolon, hypoperistalsis syndrome", "megacystis, microcolon, intestinal hypoperistalsis syndrome", "megacystis-microcolon-intestinal hypoperistalsis syndrome", "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH", "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome"; "Berdon syndrome", "VSCM", "infantile visceral myopathy", "megacystis microcolon intestinal hypoperistalsis syndrome", "megaduodenum and/or megacystis", "pseudoobstruction, idiopathic intestinal", "visceral myopathy", "visceral myopathy; VSCM"; "Orphanet:2241"; ; rdfs:label "Megacystis-microcolon-intestinal hypoperistalsis syndrome", "Megacystis-microcolon-intestinal hypoperistalsis syndrome"@en; "ORPHA:2241" . _:b551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis."; "Orphanet:2241" . _:b552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060610"; "MONDO:equivalentTo" . _:b554d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003442"; "MONDO:equivalentTo", "Orphanet-shared" . _:b556d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15956; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15956 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q43.8"; "Attributed"@en . _:b559d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q43.8"; "NTBT (narrower term maps to a broader term)"@en . _:b55cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q43.8"; "DOID:0060610", "ORDO:2241/attributed", "ORDO:2241/ntbt", "Orphanet:2241" . _:b55fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536138"; "DOID:0060610", "MONDO:equivalentTo" . _:b560d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98982"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.62" . _:b563d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155310"; "DOID:0060610", "MONDO:equivalentTo" . _:b565d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:249210"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b566d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:253781004"; "MONDO:equivalentTo" . _:b568d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1608393"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b56ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1608393"; "DOID:0060610", "MONDO:equivalentTo", "NCIT:C98982", "ORDO:2241/e", "Orphanet:2241" . _:b56cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MMIH syndrome"; "NCIT:C98982" . _:b56dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MMIHS"; "Orphanet:2241" . _:b56fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megacystis, microcolon, hypoperistalsis syndrome"; "NCIT:C98982" . _:b571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megacystis, microcolon, intestinal hypoperistalsis syndrome"; "NCIT:C98982" . _:b572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megacystis-microcolon-intestinal hypoperistalsis syndrome"; "OMIM:155310" . _:b574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megacystis-microcolon-intestinal hypoperistalsis syndrome"; rdfs:comment "preferred label from MONDO" . _:b576d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH"; "DOID:0060610" . _:b578d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome"; "Orphanet:2241" . _:b57ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Berdon syndrome"; "DOID:0060610", "OMIM:155310", "Orphanet:2241" . _:b57cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VSCM"; "MONDO:Lexical", "OMIM:155310" . _:b57dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile visceral myopathy"; "OMIM:155310" . _:b57fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megacystis microcolon intestinal hypoperistalsis syndrome"; "GARD:0003442" . _:b580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megaduodenum and/or megacystis"; "OMIM:155310" . _:b582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudoobstruction, idiopathic intestinal"; "OMIM:155310" . _:b584d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visceral myopathy"; "DOID:0060610", "MONDO:Lexical", "OMIM:155310" . _:b586d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "visceral myopathy; VSCM"; "OMIM:155310" . _:b58bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2241" . a owl:Class; rdfs:subClassOf ; "HLHS"@en; "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis."@en; "orphanet"@en; "ICD-10:Q23.4", "MeSH:D018636", "MedDRA:10021076", "OMIM:241550", "OMIM:614435", "UMLS:C0152101"; rdfs:label "Hypoplastic left heart syndrome"@en; "ORPHA:2248" . _:b58ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q23.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b591d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018636"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021076"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b596d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:241550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614435"; "BTNT (broader term maps to a narrower term)"@en . _:b599d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152101"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Lysosomal disease with epilepsy"@en; "ORPHA:225681" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0016403", "UMLS:CN201332"; "mitochondrial disease with peripheral neuropathy"; "Orphanet:225703"; ; rdfs:label "Mitochondrial disease with peripheral neuropathy" . _:b5bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201332"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b5bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial disease with peripheral neuropathy"; rdfs:comment "preferred label from MONDO" . _:b5bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:225703" . a owl:Class; rdfs:subClassOf ; rdfs:label "Metabolic neurotransmission anomaly with epilepsy"@en; "ORPHA:225707" . a owl:Class; rdfs:subClassOf , , , ; "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties."; , , , , , , ; "Hyperphenylalaninemia due to dihydropteridine reductase deficiency"@en, "PKU type 2"@en, "Phenylketonuria type 2"@en; "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties."@en; "orphanet", "orphanet"@en; "GARD:0004319", "ICD-10:E70.1", "ICD10:E70.1", "MONDO:0009862", "MSH:C537896", "MeSH:C537896", "NCIT:C138173", "OMIM:261630", "SCTID:58256000", "UMLS:C0268465", "UMLS:C2936906"; "6,7-dihydropteridine reductase activity disease", "Hyperphenylalaninemia due to dihydropteridine reductase deficiency", "PKU type 2", "Phenylketonuria type 2", "dihydropteridine reductase deficiency", "disorder of 6,7-dihydropteridine reductase activity", "hyperphenylalaninemia due to dihydropteridine reductase deficiency", "hyperphenylalaninemia, BH4-deficient C", "hyperphenylalaninemia, Bh4-deficient, type C", "phenylketonuria type 2"; "DHPR deficiency", "HPABH4C", "Qdpr deficiency", "disorder of 6,7-dihydropteridine reductase activity", "hyperphenylalaninemia, BH-4-deficient, C", "hyperphenylalaninemia, BH4-deficient, C", "hyperphenylalaninemia, BH4-deficient, C; HPABH4C", "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency", "quinoid dihydropteridine reductase deficiency"; "Orphanet:226"; , ; rdfs:label "Dihydropteridine reductase deficiency", "Dihydropteridine reductase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency"^^xsd:anyURI; "ORPHA:226" . _:b5c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties."; "Orphanet:226" . _:b5c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004319"; "MONDO:equivalentTo" . _:b5c5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid15995; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid15995 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "Attributed"@en . _:b5c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "NTBT (narrower term maps to a broader term)"@en . _:b5c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.1"; "ORDO:226/attributed", "ORDO:226/ntbt", "Orphanet:226" . _:b5cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537896"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b5d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C138173"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:b5d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261630"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b5d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261630"; "MONDO:equivalentTo", "ORDO:226/e", "Orphanet:226" . _:b5d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:58256000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:b5d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268465"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b5dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936906"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b5ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "6,7-dihydropteridine reductase activity disease"; "MONDO:design_pattern" . _:b5dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PKU type 2"; "Orphanet:226" . _:b5e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dihydropteridine reductase deficiency"; "OMIM:261630" . _:b5e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dihydropteridine reductase deficiency"; rdfs:comment "preferred label from MONDO" . _:b5e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of 6,7-dihydropteridine reductase activity"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:b5e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to dihydropteridine reductase deficiency"; "Orphanet:226" . _:b5e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient C"; "NCIT:C138173" . _:b5ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, Bh4-deficient, type C"; "MONDORULE:1", "OMIM:261630" . _:b5efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phenylketonuria type 2"; "Orphanet:226" . _:b5f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHPR deficiency"; "OMIM:261630" . _:b5f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPABH4C"; "MONDO:Lexical", "OMIM:261630" . _:b5f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Qdpr deficiency"; "OMIM:261630" . _:b5f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of 6,7-dihydropteridine reductase activity"; "MONDO:patterns/basis_in_disruption_of_process" . _:b5f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH-4-deficient, C"; "GARD:0004319" . _:b5fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, C"; "MONDO:Lexical", "OMIM:261630" . _:b5fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, BH4-deficient, C; HPABH4C"; "OMIM:261630" . _:b5fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency"; "OMIM:261630" . _:b602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "quinoid dihydropteridine reductase deficiency"; "OMIM:261630" . _:b605d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004319" . _:b606d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:226" . _:b608d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency"^^xsd:anyURI; "GARD:0004319" . a owl:Class; rdfs:subClassOf ; "Oligomeganephronic renal hypoplasia"@en; "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules."@en; "orphanet"@en; "ICD-10:Q60.4"; rdfs:label "Oligomeganephronia"@en; "ORPHA:2260" . _:b60cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.4"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , ; "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth."; ; "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth."@en; "orphanet", "orphanet"@en; "ICD-10:E03.0", "ICD-10:E03.1", "ICD10:E03.0", "ICD10:E03.1", "MONDO:0016408"; "permanent congenital hypothyroidism"; "Orphanet:226292"; ; rdfs:label "Permanent congenital hypothyroidism", "Permanent congenital hypothyroidism"@en; "ORPHA:226292" . _:b611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth."; "Orphanet:226292" . _:b612d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.0"; "BTNT (broader term maps to a narrower term)"@en . _:b613d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16030; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16030 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.0"; "Specific code (The term has its own code in the ICD10)"@en . _:b614d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.1"; "BTNT (broader term maps to a narrower term)"@en . _:b617d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.1"; "Specific code (The term has its own code in the ICD10)"@en . _:b619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E03.0"; "ORDO:226292/btnt", "ORDO:226292/specific", "Orphanet:226292" . _:b61bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E03.1"; "ORDO:226292/btnt", "ORDO:226292/specific", "Orphanet:226292" . _:b61cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "permanent congenital hypothyroidism"; rdfs:comment "preferred label from MONDO" . _:b61ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:226292" . a owl:Class; rdfs:subClassOf ; "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism."; ; "orphanet"; "MONDO:0016412"; "peripheral hypothyroidism"; "Orphanet:226310"; ; rdfs:label "Peripheral hypothyroidism" . _:b61fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism."; "Orphanet:226310" . _:b621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral hypothyroidism"; rdfs:comment "preferred label from MONDO" . _:b622d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:226310" . a owl:Class; rdfs:subClassOf , ; "An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome."; ; "Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life."@en; "orphanet"@en; "ICD-10:P72.2", "ICD10:P72.2", "MONDO:0044331"; "genetic transient congenital hypothyroidism", "hereditary transient congenital hypothyroidism"; "Orphanet:226316"; ; rdfs:label "Genetic transient congenital hypothyroidism", "Genetic transient congenital hypothyroidism"@en; "ORPHA:226316" . _:b627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:b628d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16042; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:P72.2"; "Attributed"@en . _:b62bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:P72.2"; "NTBT (narrower term maps to a broader term)"@en . _:b62cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:P72.2"; "Orphanet:226316" . _:b62fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic transient congenital hypothyroidism"; rdfs:comment "preferred label from MONDO" . _:b633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary transient congenital hypothyroidism"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf , , , ; "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9."; , , , , ; "Immunodeficiency-centromeric instability-facial anomalies syndrome"@en; "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9."@en; "orphanet"@en; "DC:0000544", "DOID:0090007", "GARD:0002945", "ICD-10:D84.8", "ICD10:D84.8", "MESH:C537362", "MONDO:0000133", "OMIM:242860", "OMIM:614069", "OMIM:616910", "OMIM:616911", "OMIMPS:242860", "SCTID:234633000", "UMLS:CN201349"; "Immunodeficiency - centromeric instability - facial anomalies", "immunodeficiency-centromeric instability-facial anomalies", "immunodeficiency-centromeric instability-facial anomalies syndrome"; "CIID", "ICF syndrome"; "Orphanet:2268"; ; rdfs:label "ICF syndrome", "ICF syndrome"@en; "ORPHA:2268" . _:b636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9."; "Orphanet:2268" . _:b637d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000544"; "MONDO:equivalentTo" . _:b638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090007"; "MONDO:equivalentTo" . _:b639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002945"; "MONDO:equivalentTo", "Orphanet-shared" . _:b63ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16052; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:b63dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:b63fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "DOID:0090007", "ORDO:2268/attributed", "ORDO:2268/ntbt", "Orphanet:2268" . _:b642d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537362"; "MONDO:equivalentTo" . _:b643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242860"; "BTNT (broader term maps to a narrower term)"@en . _:b646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614069"; "BTNT (broader term maps to a narrower term)"@en . _:b647d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616910"; "BTNT (broader term maps to a narrower term)"@en . _:b648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616910"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b64bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616911"; "BTNT (broader term maps to a narrower term)"@en . _:b64dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616911"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b64fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:242860"; "DC:0000544", "DOID:0090007", "MONDO:equivalentTo" . _:b651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234633000"; "MONDO:equivalentTo" . _:b653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201349"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:b655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency-centromeric instability-facial anomalies"; "OMIMPS:242860" . _:b657d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency-centromeric instability-facial anomalies syndrome"; "Orphanet:2268" . _:b658d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency-centromeric instability-facial anomalies syndrome"; rdfs:comment "preferred label from MONDO" . _:b659d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CIID"; "GARD:0002945" . _:b65bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICF syndrome"; "DOID:0090007" . _:b65dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2268" . a owl:Class; rdfs:subClassOf , , ; "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."; , , , , , ; "Familial breast cancer"@en, "Familial breast carcinoma"@en, "Hereditary breast carcinoma"@en; "ICD-10:C50.0", "ICD-10:C50.1", "ICD-10:C50.2", "ICD-10:C50.3", "ICD-10:C50.4", "ICD-10:C50.5", "ICD-10:C50.6", "ICD-10:C50.8", "ICD10:C50", "ICD10:C50.0", "ICD10:C50.1", "ICD10:C50.2", "ICD10:C50.3", "ICD10:C50.4", "ICD10:C50.5", "ICD10:C50.6", "ICD10:C50.8", "MESH:C562840", "MONDO:0016419", "NCIT:C4503", "OMIM:114480", "OMIM:600048", "OMIM:604370", "OMIM:605365", "OMIM:612555", "OMIM:613399", "SCTID:254843006", "UMLS:C0346153"; "Familial breast cancer", "Familial breast carcinoma", "Hereditary breast carcinoma", "familial breast cancer", "familial breast carcinoma", "familial cancer of breast", "familial cancer of the breast", "hereditary breast cancer", "hereditary breast carcinoma"; "breast cancer, familial", "breast cancer, familial Male"; "Orphanet:227535"; , ; rdfs:comment "Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84"; rdfs:label "Hereditary breast cancer", "Hereditary breast cancer"@en; "ORPHA:227535" . _:b669d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."; "NCIT:P378" . _:b66ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.0"; "Attributed"@en . _:b66bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.0"; "BTNT (broader term maps to a narrower term)"@en . _:b66cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.1"; "Attributed"@en . _:b66ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.1"; "BTNT (broader term maps to a narrower term)"@en . _:b670d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.2"; "Attributed"@en . _:b672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.2"; "BTNT (broader term maps to a narrower term)"@en . _:b673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.3"; "Attributed"@en . _:b674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.3"; "BTNT (broader term maps to a narrower term)"@en . _:b675d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.4"; "Attributed"@en . _:b677d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.4"; "BTNT (broader term maps to a narrower term)"@en . _:b678d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.5"; "Attributed"@en . _:b67ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.5"; "BTNT (broader term maps to a narrower term)"@en . _:b67bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16085; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16085 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.6"; "Attributed"@en . _:b67cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.6"; "BTNT (broader term maps to a narrower term)"@en . _:b67dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.8"; "Attributed"@en . _:b67ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C50.8"; "BTNT (broader term maps to a narrower term)"@en . _:b67fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50.0"; "ORDO:227535/attributed", "ORDO:227535/btnt", "Orphanet:227535" . _:b681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50.1"; "ORDO:227535/attributed", "ORDO:227535/btnt", "Orphanet:227535" . _:b683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50.2"; "MONDO:relatedTo", "ORDO:227535/attributed", "ORDO:227535/btnt", "Orphanet:227535" . _:b689d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50.3"; "MONDO:relatedTo", "ORDO:227535/attributed", "ORDO:227535/btnt", "Orphanet:227535" . _:b68cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50.4"; "ORDO:227535/attributed", "ORDO:227535/btnt", "Orphanet:227535" . _:b68ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50.5"; "ORDO:227535/attributed", "ORDO:227535/btnt", "Orphanet:227535" . _:b690d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50.6"; "MONDO:relatedTo", "ORDO:227535/attributed", "ORDO:227535/btnt", "Orphanet:227535" . _:b692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C50.8"; "ORDO:227535/attributed", "ORDO:227535/btnt", "Orphanet:227535" . _:b696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562840"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4503"; "MONDO:equivalentTo" . _:b699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:114480"; "NTBT (narrower term maps to a broader term)"@en . _:b69ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:114480"; "MONDO:equivalentTo", "ORDO:227535/ntbt", "Orphanet:227535" . _:b69dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604370"; "NTBT (narrower term maps to a broader term)"@en . _:b69fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612555"; "NTBT (narrower term maps to a broader term)"@en . _:b6a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613399"; "NTBT (narrower term maps to a broader term)"@en . _:b6a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254843006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.74" . _:b6a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0346153"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b6a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0346153"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C4503", "Orphanet:227535" . _:b6a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial breast cancer"; "Orphanet:227535" . _:b6a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial breast carcinoma"; "NCIT:C4503", "Orphanet:227535" . _:b6aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cancer of breast"; "NCIT:C4503" . _:b6afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cancer of the breast"; "NCIT:C4503" . _:b6b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary breast cancer"; "NCIT:C4503" . _:b6b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary breast carcinoma"; "MONDO:patterns/hereditary", "NCIT:C4503", "Orphanet:227535" . _:b6b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary breast carcinoma"; rdfs:comment "preferred label from MONDO" . _:b6b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast cancer, familial"; "OMIM:114480" . _:b6b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "breast cancer, familial Male"; "OMIM:114480" . _:b6b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:227535" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:H35.5", "MONDO:0016420", "UMLS:CN226924"; "Hereditary flecked retinopathy", "familial flecked retinopathy", "hereditary flecked retinopathy"; "Orphanet:227786"; ; rdfs:label "Familial flecked retinopathy" . _:b6bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "MONDO:relatedTo", "ORDO:227786/attributed", "ORDO:227786/ntbt", "Orphanet:227786" . _:b6bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226924"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:b6bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial flecked retinopathy"; rdfs:comment "preferred label from MONDO" . _:b6c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary flecked retinopathy"; "Orphanet:227786" . _:b6c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:227786" . a owl:Class; rdfs:subClassOf , ; "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age."; , ; , , , , ; "Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age."@en; "orphanet"@en; "COHD:373472", "DOID:11105", "ICD-10:H35.5", "ICD10:H35.5", "ICD10:H35.52", "ICD9:362.74", "ICD9:362.76", "MESH:C562733", "MONDO:0007639", "OMIM:136880", "SCTID:68222009", "UMLS:C0311338"; "fundus albipunctatus", "pigmentary retinal dystrophy", "retinitis punctata albescens"; "Orphanet:227796"; ; rdfs:label "Fundus albipunctatus", "Fundus albipunctatus"@en; "ORPHA:227796" . _:b6cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age."; "Orphanet:227796" . _:b6dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:373472"; "MONDO:equivalentTo" . _:b6e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11105"; "MONDO:equivalentTo" . _:b6e1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16126; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16126 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "Attributed"@en . _:b6e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "NTBT (narrower term maps to a broader term)"@en . _:b6e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "MONDO:relatedTo", "ORDO:227796/attributed", "ORDO:227796/ntbt", "Orphanet:227796" . _:b6e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.52"; "DOID:11105" . _:b6e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.74"; "DOID:11105", "MONDO:equivalentTo", "i2s" . _:b6ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.76"; "MONDO:equivalentTo", "i2s" . _:b6eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562733"; "DOID:11105", "MONDO:equivalentTo" . _:b6efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:136880"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b6f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:136880"; "DOID:11105", "MONDO:equivalentTo", "ORDO:227796/e", "Orphanet:227796" . _:b6f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:68222009"; "DOID:11105", "MONDO:equivalentTo", "MONDO:kboom-pr-0.95/0.84/1.22" . _:b6fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0311338"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b6ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fundus albipunctatus"; "OMIM:136880" . _:b700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fundus albipunctatus"; rdfs:comment "preferred label from MONDO" . _:b701d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmentary retinal dystrophy"; "DOID:11105", "ICD9CM_2006:362.74" . _:b702d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinitis punctata albescens"; "DOID:11105", "OMIM:136880" . _:b703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:227796" . a owl:Class; rdfs:subClassOf ; "APS type 4"@en, "APS4"@en, "Autoimmune polyendocrine syndrome type 4"@en, "Autoimmune polyglandular syndrome type 4"@en; "ICD-10:E31.0"; rdfs:label "Autoimmune polyendocrinopathy type 4"@en; "ORPHA:227990" . _:b706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; , , , ; "SCID due to CORO1A deficiency"@en, "SCID due to coronin-1A deficiency"@en, "Severe combined immunodeficiency due to coronin-1A deficiency"@en; "DOID:0060019", "ICD-10:D81.2", "ICD10:D81.2", "MONDO:0014168", "OMIM:615401", "UMLS:C3809383"; "SCID due to CORO1A deficiency", "SCID due to coronin-1A deficiency", "Severe combined immunodeficiency due to coronin-1A deficiency", "coronin-1A deficiency", "immunodeficiency type 8", "severe combined immunodeficiency due to CORO1A deficiency", "severe combined immunodeficiency due to coronin-1A deficiency"; "IMD8", "immunodeficiency 8", "immunodeficiency 8; IMD8"; "Orphanet:228003"; ; rdfs:label "Severe combined immunodeficiency due to CORO1A deficiency", "Severe combined immunodeficiency due to CORO1A deficiency"@en; "ORPHA:228003" . _:b70dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060019"; "MONDO:equivalentTo" . _:b710d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16145; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16145 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:b714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:b716d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:228003/attributed", "ORDO:228003/ntbt", "Orphanet:228003" . _:b719d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615401"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b71ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615401"; "MONDO:equivalentTo", "ORDO:228003/e", "Orphanet:228003" . _:b71bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3809383"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:615401" . _:b71cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to CORO1A deficiency"; "Orphanet:228003" . _:b71dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to coronin-1A deficiency"; "Orphanet:228003" . _:b71ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coronin-1A deficiency"; "MONDO:0000579" . _:b71fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 8"; "MONDORULE:1", "OMIM:615401" . _:b720d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to CORO1A deficiency"; rdfs:comment "preferred label from MONDO" . _:b721d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to coronin-1A deficiency"; "Orphanet:228003" . _:b722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD8"; "MONDO:Lexical", "OMIM:615401" . _:b723d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 8"; "MONDO:Lexical", "OMIM:615401" . _:b724d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 8; IMD8"; "OMIM:615401" . _:b725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:228003" . a owl:Class; rdfs:subClassOf ; rdfs:label "Multiple sclerosis variant"@en; "ORPHA:228145" . a owl:Class; rdfs:subClassOf , ; "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)."; , ; "orphanet"; "ICD10:Q87.2", "MONDO:0016432", "UMLS:CN201390"; "Atriodigital dysplasia", "heart-hand syndrome"; "Orphanet:228184"; ; rdfs:label "Heart-hand syndrome" . _:b728d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)."; "Orphanet:228184" . _:b729d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.2"; "ORDO:228184/attributed", "ORDO:228184/ntbt", "Orphanet:228184" . _:b72ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201390"; "MONDO:equivalentTo" . _:b72bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Atriodigital dysplasia"; "Orphanet:228184" . _:b731d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart-hand syndrome"; rdfs:comment "preferred label from MONDO" . _:b732d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:228184" . a owl:Class; rdfs:subClassOf , , ; , ; ; "Orphanet:79378", "UMLS:CN227616"; "dermis elastic tissue disorder"; "Orphanet:228215"; ; rdfs:label "Genetic dermis elastic tissue disorder", "Genetic dermis elastic tissue disorder"@en; "ORPHA:228215" . _:b737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDO:Redundant", "Orphanet:79378" . _:b738d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79378"; "MONDO:equivalentTo" . _:b739d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227616"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b73bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dermis elastic tissue disorder"; rdfs:comment "preferred label from MONDO" . _:b73cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79378" . a owl:Class; rdfs:subClassOf , , , ; , , ; "Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections"@en, "Dendritic cell, monocyte, B and NK lymphoid deficiency"@en, "MonoMAC"@en, "Monocyte-B-natural killer-dendritic cell deficiency syndrome"@en, "Monocytopenia and mycobacterial infection syndrome"@en; "Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated."@en; "orphanet"@en; "GARD:0010934", "ICD-10:D72.8", "ICD10:D72.8", "MONDO:0013607", "OMIM:614172", "UMLS:C3280030"; "Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections", "Dendritic cell, monocyte, B and NK lymphoid deficiency", "Dentritic cell, monocyte, B and NK lymphoid deficiency", "MonoMAC", "Monocyte - B - natural killer - dendritic cell deficiency", "Monocytopenia and mycobacterial infection syndrome", "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections", "immunodeficiency type 21", "monocyte-B-natural killer-dendritic cell deficiency syndrome", "monocytopenia and mycobacterial infection syndrome", "monocytopenia with susceptibility to infections"; "DCML", "Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency", "GATA2 deficiency", "IMD21", "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections", "immunodeficiency 21", "immunodeficiency 21; IMD21", "monocyte - B - natural killer - dendritic cell deficiency", "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia"; "Orphanet:228423"; , ; rdfs:label "Monocytopenia with susceptibility to infections", "Monocytopenia with susceptibility to infections"@en; "ORPHA:228423" . _:b73fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010934"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:b740d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16174; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16174 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D72.8"; "Attributed"@en . _:b744d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D72.8"; "NTBT (narrower term maps to a broader term)"@en . _:b747d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D72.8"; "ORDO:228423/attributed", "ORDO:228423/ntbt", "Orphanet:228423" . _:b749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614172"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b74dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614172"; "MONDO:equivalentTo", "ORDO:228423/e", "Orphanet:228423" . _:b74ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3280030"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614172" . _:b750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dendritic cell, monocyte, B and NK lymphoid deficiency"; "Orphanet:228423" . _:b754d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MonoMAC"; "Orphanet:228423" . _:b756d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections"; "Orphanet:228423" . _:b759d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 21"; "MONDORULE:2", "OMIM:614172" . _:b75cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monocyte-B-natural killer-dendritic cell deficiency syndrome"; "Orphanet:228423" . _:b75ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monocytopenia and mycobacterial infection syndrome"; "OMIM:614172", "Orphanet:228423" . _:b75fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monocytopenia with susceptibility to infections"; rdfs:comment "preferred label from MONDO" . _:b761d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCML"; "GARD:0010934" . _:b762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency"; "OMIM:614172" . _:b763d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GATA2 deficiency"; "OMIM:614172" . _:b766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD21"; "MONDO:Lexical", "OMIM:614172" . _:b768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections"; "OMIM:614172" . _:b769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 21"; "MONDO:Lexical", "OMIM:614172" . _:b76ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 21; IMD21"; "OMIM:614172" . _:b76bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monocyte - B - natural killer - dendritic cell deficiency"; "GARD:0010934" . _:b76cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia"; "OMIM:614172" . _:b76dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:228423" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , ; , , ; "Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland."@en; "orphanet"@en; "GARD:0010775", "MONDO:0013245", "OMIM:613385", "UMLS:C3150649"; "syndromic multisystem autoimmune disease due to Itch deficiency"; "ADMFD", "ITCH E3 ubiquitin ligase deficiency", "autoimmune disease, multisystem, with facial dysmorphism", "autoimmune disease, multisystem, with facial dysmorphism; ADMFD", "autoimmune disease, syndromic multisystem", "syndromic multisystem autoimmune disease"; "Orphanet:228426"; , ; rdfs:label "Syndromic multisystem autoimmune disease due to Itch deficiency", "Syndromic multisystem autoimmune disease due to Itch deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency"^^xsd:anyURI; "ORPHA:228426" . _:b773d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010775"; "MONDO:equivalentTo" . _:b774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613385"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b775d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613385"; "GARD:0010775", "MONDO:equivalentTo", "ORDO:228426/e", "Orphanet:228426" . _:b777d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3150649"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613385" . _:b779d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic multisystem autoimmune disease due to Itch deficiency"; rdfs:comment "preferred label from MONDO" . _:b77bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADMFD"; "MONDO:Lexical", "OMIM:613385" . _:b77cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ITCH E3 ubiquitin ligase deficiency"; "GARD:0010775" . _:b77ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease, multisystem, with facial dysmorphism"; "MONDO:Lexical", "OMIM:613385" . _:b780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease, multisystem, with facial dysmorphism; ADMFD"; "OMIM:613385" . _:b781d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune disease, syndromic multisystem"; "GARD:0010775" . _:b783d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic multisystem autoimmune disease"; "GARD:0010775" . _:b784d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:228426" . _:b785d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency"^^xsd:anyURI; "GARD:0010775" . a owl:Class; rdfs:subClassOf , , ; "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight."; , ; , , , , ; "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight."@en; "orphanet"@en; "EFO:1001503", "GARD:0003008", "ICD-10:E13", "ICD10:E11", "ICD10:E13", "MESH:C562710", "MONDO:0012520", "NCIT:C131836", "OMIM:610549", "UMLS:C0342278", "UMLS:C0342336"; "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism", "insulin-resistance syndrome type A", "type A insulin resistance syndrome"; "Iran, type a", "diabetes mellitus, insulin-resistant, with acanthosis nigricans", "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a", "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans", "insulin-resistant acanthosis nigricans, type A"; "Orphanet:2297"; ; rdfs:label "Insulin-resistance syndrome type A", "Insulin-resistance syndrome type A"@en; "ORPHA:2297" . _:b78bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight."; "Orphanet:2297" . _:b78cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1001503"; "MONDO:equivalentTo" . _:b78dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003008"; "MONDO:equivalentTo", "OMIM-shared" . _:b790d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16214; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16214 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13"; "Attributed"@en . _:b794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13"; "NTBT (narrower term maps to a broader term)"@en . _:b796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E13"; "ORDO:2297/attributed", "ORDO:2297/ntbt", "Orphanet:2297" . _:b797d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562710"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b799d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131836"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.56" . _:b79bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610549"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b79cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610549"; "MONDO:equivalentTo", "ORDO:2297/e", "Orphanet:2297" . _:b79dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342278"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b79ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342336"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b79fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism"; "NCIT:C131836" . _:b7a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-resistance syndrome type A"; rdfs:comment "preferred label from MONDO" . _:b7a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type A insulin resistance syndrome"; "NCIT:C131836" . _:b7a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Iran, type a"; "OMIM:610549" . _:b7a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, insulin-resistant, with acanthosis nigricans"; "OMIM:610549" . _:b7a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a"; "OMIM:610549" . _:b7a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans"; "OMIM:610549" . _:b7a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-resistant acanthosis nigricans, type A"; "GARD:0003008" . _:b7abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2297" . a owl:Class; rdfs:subClassOf ; "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy."; ; , ; "orphanet"; "ICD10:E80.0", "MONDO:0016462", "OMIM:300310", "OMIM:300755", "OMIM:601495", "OMIM:612692", "OMIM:613500", "OMIM:613501", "OMIM:613502", "OMIM:613506", "OMIM:615214", "OMIM:616941", "SCTID:764858009"; "Isolated hypogammaglobulinemia", "isolated agammaglobulinemia", "isolated hypogammaglobulinemia", "nonsyndromic agammaglobulinemia"; "Orphanet:229717"; ; rdfs:label "Isolated agammaglobulinemia" . _:b7b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy."; "Orphanet:229717" . _:b7b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.0"; "ORDO:229717/e", "ORDO:229717/specific", "Orphanet:229717" . _:b7b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616941"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b7b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:764858009"; "MONDO:equivalentTo" . _:b7b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated agammaglobulinemia"; rdfs:comment "preferred label from MONDO" . _:b7b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated hypogammaglobulinemia"; "Orphanet:229717" . _:b7bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic agammaglobulinemia"; "MONDO:patterns/isolated" . _:b7bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:229717" . a owl:Class; rdfs:subClassOf , ; "A agammaglobulinemia that is part of a larger syndrome."; ; , , ; "hypogammaglobulinemia"; "MONDO:0016463", "NCIT:C26931", "UMLS:CN226939"; "syndrome associated with agammaglobulinemia", "syndromic agammaglobulinemia", "syndromic hypogammaglobulinemia"; "syndrome associated with agammaglobulinemia"; "Orphanet:229720"; ; rdfs:label "Syndromic agammaglobulinemia" . _:b7c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A agammaglobulinemia that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:b7c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogammaglobulinemia"; "NCIT:C26931" . _:b7c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26931"; "MONDO:cjm", "MONDO:equivalentTo", "the NCIT class hypogammaglobulinemia is implicitly syndromic so we place here" . _:b7c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226939"; "MONDO:equivalentTo" . _:b7c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with agammaglobulinemia"; "MONDO:patterns/syndromic" . _:b7c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic agammaglobulinemia"; "MONDO:patterns/syndromic" . _:b7cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic agammaglobulinemia"; rdfs:comment "preferred label from MONDO" . _:b7cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with agammaglobulinemia"; "MONDO:patterns/syndromic" . _:b7ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:229720" . a owl:Class; rdfs:subClassOf , ; "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome; see these terms) and occurs in the context of immune dysfunction."; , ; "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome; see these terms) and occurs in the context of immune dysfunction."@en; "orphanet"@en; "GARD:0003009", "ICD-10:E13", "ICD10:E11", "ICD10:E13", "MONDO:0016464", "UMLS:C0342337"; "insulin-resistance syndrome type B"; "insulin-resistance type B"; "Orphanet:2298"; , ; rdfs:label "Insulin-resistance syndrome type B", "Insulin-resistance syndrome type B"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b"^^xsd:anyURI; "ORPHA:2298" . _:b7d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome; see these terms) and occurs in the context of immune dysfunction."; "Orphanet:2298" . _:b7d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003009"; "MONDO:equivalentTo" . _:b7d7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16252; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13"; "Attributed"@en . _:b7dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13"; "NTBT (narrower term maps to a broader term)"@en . _:b7dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E13"; "ORDO:2298/attributed", "ORDO:2298/ntbt", "Orphanet:2298" . _:b7dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342337"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b7e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342337"; "GARD:0003009", "MONDO:equivalentTo", "ORDO:2298/e", "Orphanet:2298" . _:b7e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-resistance syndrome type B"; rdfs:comment "preferred label from MONDO" . _:b7f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-resistance type B"; "GARD:0003009" . _:b7f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2298" . _:b7f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b"^^xsd:anyURI; "GARD:0003009" . a owl:Class; rdfs:subClassOf ; "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths."@en; "orphanet"@en; "ICD-10:Q25.4", "MedDRA:10022599", "UMLS:C0152419"; rdfs:label "Aortic arch interruption"@en; "ORPHA:2299" . _:b7f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q25.4"; "NTBT (narrower term maps to a broader term)"@en . _:b7fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10022599"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b7fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152419"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.", "Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders."; ; , , , , , , , ; "ASA deficiency"@en, "ASL deficiency"@en, "Argininosuccinase deficiency"@en, "Argininosuccinatelyase deficiency"@en, "Argininosuccinic acid lyase deficiency"@en; "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction."@en; "orphanet", "orphanet"@en; "DOID:14755", "GARD:0005843", "ICD-10:E72.2", "ICD10:E72.2", "MESH:D056807", "MONDO:0008815", "MSH:D056807", "MeSH:D056807", "MedDRA:10058299", "NCIT:C84569", "OMIM:207900", "SCTID:41013004", "UMLS:C0268547"; "ASA deficiency", "ASL deficiency", "Argininosuccinase deficiency", "Argininosuccinatelyase deficiency", "argininosuccinic acid lyase deficiency", "argininosuccinic acidemia", "argininosuccinic aciduria", "arginosuccinase deficiency", "deficiency of argininosuccinate lyase"; "Argininosuccinicaciduria", "Asl deficiency", "arginino succinase deficiency", "argininosuccinate acidemia", "argininosuccinate lyase deficiency", "inborn error of urea synthesis, arginino succinic type", "urea cycle disorder, arginino succinase type"; "Orphanet:23"; , ; rdfs:label "Argininosuccinic aciduria", "Argininosuccinic aciduria"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria"^^xsd:anyURI; "ORPHA:23" . _:b806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction."; "Orphanet:23" . _:b807d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14755"; "MONDO:equivalentTo" . _:b809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005843"; "MONDO:equivalentTo" . _:b80bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16268; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16268 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:b80dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "NTBT (narrower term maps to a broader term)"@en . _:b80ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.2"; "ORDO:23/inclusion", "ORDO:23/ntbt", "Orphanet:23" . _:b80fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056807"; "DOID:14755", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:23/e", "Orphanet:23" . _:b810d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D056807"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058299"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b813d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058299"; "ORDO:23/e", "Orphanet:23" . _:b817d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84569"; "DOID:14755", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:b81ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:207900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b81bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:207900"; "DOID:14755", "MONDO:equivalentTo", "ORDO:23/e", "Orphanet:23" . _:b81cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:41013004"; "DOID:14755", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.07" . _:b820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268547"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b824d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268547"; "DOID:14755", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84569", "OMIM:207900", "ORDO:23/e", "Orphanet:23" . _:b826d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASA deficiency"; "Orphanet:23" . _:b82ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASL deficiency"; "Orphanet:23" . _:b82cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Argininosuccinase deficiency"; "OMIM:207900", "Orphanet:23" . _:b82dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Argininosuccinatelyase deficiency"; "Orphanet:23" . _:b830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinic acid lyase deficiency"; "OMIM:207900", "Orphanet:23" . _:b833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinic acidemia"; "DOID:14755" . _:b835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinic aciduria"; "OMIM:207900" . _:b837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinic aciduria"; rdfs:comment "preferred label from MONDO" . _:b838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arginosuccinase deficiency"; "CSP2005:1849-9435", "DOID:14755" . _:b83bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of argininosuccinate lyase"; "DOID:14755" . _:b83cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Argininosuccinicaciduria"; "GARD:0005843" . _:b83dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Asl deficiency"; "OMIM:207900" . _:b83ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arginino succinase deficiency"; "GARD:0005843" . _:b83fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinate acidemia"; "GARD:0005843" . _:b840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinate lyase deficiency"; "OMIM:207900" . _:b841d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of urea synthesis, arginino succinic type"; "GARD:0005843" . _:b842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urea cycle disorder, arginino succinase type"; "GARD:0005843" . _:b843d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005843" . _:b844d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:23" . _:b845d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria"^^xsd:anyURI; "GARD:0005843" . a owl:Class; rdfs:subClassOf , , , , , ; "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension."; ; , , , , , ; "Noradrenaline deficiency"@en, "Norepinephrine deficiency"@en; "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension."@en; "orphanet"@en; "DOID:0090145", "GARD:0001903", "GARD:1903", "ICD-10:G90.8", "ICD10:G90.8", "ICD9:270.8", "MESH:C535600", "MONDO:0009123", "MSH:C535600", "MeSH:C535600", "OMIM:223360", "SCTID:237923004", "UMLS:C0342687"; "Noradrenaline deficiency", "Norepinephrine deficiency", "congenital dopamine beta-hydroxylase deficiency", "dopamine beta-hydroxylase deficiency", "noradrenaline deficiency", "norepinephrine deficiency"; "dopamine BETA-HYDROXYLASE deficiency, congenital", "dopamine beta hydroxylase deficiency"; "Orphanet:230"; , ; rdfs:label "Dopamine beta-hydroxylase deficiency", "Dopamine beta-hydroxylase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency"^^xsd:anyURI; "ORPHA:230" . _:b850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension."; "Orphanet:230" . _:b852d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090145"; "MONDO:equivalentTo" . _:b854d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001903"; "MONDO:equivalentTo" . _:b856d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:1903"; "DOID:0090145" . _:b85ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16306; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16306 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G90.8"; "Attributed"@en . _:b85dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G90.8"; "NTBT (narrower term maps to a broader term)"@en . _:b85fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G90.8"; "ORDO:230/attributed", "ORDO:230/ntbt", "Orphanet:230" . _:b861d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:b864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535600"; "DOID:0090145", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:230/e", "Orphanet:230" . _:b865d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:223360"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b86ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:223360"; "DOID:0090145", "MONDO:equivalentTo", "ORDO:230/e", "Orphanet:230" . _:b86fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237923004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:b872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342687"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342687"; "DOID:0090145", "MONDO:equivalentTo", "OMIM:223360", "ORDO:230/e", "Orphanet:230" . _:b875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital dopamine beta-hydroxylase deficiency"; "DOID:0090145" . _:b876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dopamine beta-hydroxylase deficiency"; rdfs:comment "preferred label from MONDO" . _:b879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "noradrenaline deficiency"; "DOID:0090145", "OMIM:223360", "Orphanet:230" . _:b87cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "norepinephrine deficiency"; "DOID:0090145", "OMIM:223360", "Orphanet:230" . _:b87dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dopamine BETA-HYDROXYLASE deficiency, congenital"; "OMIM:223360" . _:b87ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dopamine beta hydroxylase deficiency"; "GARD:0001903" . _:b87fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0001903" . _:b880d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:230" . _:b882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency"^^xsd:anyURI; "GARD:0001903" . a owl:Class; rdfs:subClassOf , , , , , ; "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine."; , , , , , , , ; "Jarcho-Levin syndrome"@en; "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine."@en; "orphanet", "orphanet"@en; "ICD-10:Q76.8", "ICD10:Q76.8", "ICD9:756.9", "MESH:C535781", "MONDO:0010180", "MSH:C535781", "MSH:C537565", "MeSH:C535781", "MeSH:C537565", "OMIM:277300", "OMIM:608681", "OMIM:609813", "OMIM:613686", "OMIM:616566", "SCTID:61367005", "UMLS:C0265343", "UMLS:C2931020", "UMLS:CN032975"; "Jarcho-Levin syndrome", "autosomal recessive spondylocostal dysostosis", "spondylocostal dysostosis, autosomal recessive"; "SCDO1", "costovertebral dysplasia", "spondylocostal dysostosis 1, autosomal recessive", "spondylocostal dysostosis 1, autosomal recessive; SCDO1"; "Orphanet:2311"; ; rdfs:label "Autosomal recessive spondylocostal dysostosis", "Autosomal recessive spondylocostal dysostosis"@en; "ORPHA:2311" . _:b88ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine."; "Orphanet:2311" . _:b88bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16328; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16328 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q76.8"; "Attributed"@en . _:b88cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q76.8"; "NTBT (narrower term maps to a broader term)"@en . _:b88dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q76.8"; "ORDO:2311/attributed", "ORDO:2311/ntbt", "Orphanet:2311" . _:b88ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.9"; "MONDO:relatedTo", "i2s" . _:b88fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535781"; "MONDO:equivalentTo", "ORDO:2311/e", "Orphanet:2311" . _:b891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535781"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b893d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537565"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277300"; "BTNT (broader term maps to a narrower term)"@en . _:b896d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608681"; "BTNT (broader term maps to a narrower term)"@en . _:b898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609813"; "BTNT (broader term maps to a narrower term)"@en . _:b89ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613686"; "BTNT (broader term maps to a narrower term)"@en . _:b89bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616566"; "BTNT (broader term maps to a narrower term)"@en . _:b89fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616566"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:b8a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:61367005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.10" . _:b8a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265343"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b8a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931020"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b8a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN032975"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:b8add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jarcho-Levin syndrome"; "Orphanet:2311" . _:b8aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive spondylocostal dysostosis"; rdfs:comment "preferred label from MONDO" . _:b8b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondylocostal dysostosis, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:b8b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCDO1"; "MONDO:Lexical", "OMIM:277300" . _:b8b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "costovertebral dysplasia"; "OMIM:277300" . _:b8b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondylocostal dysostosis 1, autosomal recessive"; "MONDO:Lexical", "OMIM:277300" . _:b8b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondylocostal dysostosis 1, autosomal recessive; SCDO1"; "OMIM:277300" . _:b8b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2311" . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0016475", "UMLS:CN201470"; "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15", "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15"; "Orphanet:231117"; ; rdfs:label "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15", "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"@en; "ORPHA:231117" . _:b8bad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16354; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16354 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:b8bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:b8bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:231117/attributed", "ORDO:231117/ntbt", "Orphanet:231117" . _:b8bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201470"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:b8bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"; rdfs:comment "preferred label from MONDO" . _:b8c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15"; "MONDORULE:7", "Orphanet:231117" . _:b8c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231117" . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0016476", "OMIM:130650", "UMLS:CN201471"; "Beckwith-Wiedemann syndrome due to CDKN1C mutation"; "Orphanet:231120"; ; rdfs:label "Beckwith-Wiedemann syndrome due to CDKN1C mutation", "Beckwith-Wiedemann syndrome due to CDKN1C mutation"@en; "ORPHA:231120" . _:b8c4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16362; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:b8c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:b8cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:231120/attributed", "ORDO:231120/ntbt", "Orphanet:231120" . _:b8cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:130650"; "NTBT (narrower term maps to a broader term)"@en . _:b8ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201471"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b8d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to CDKN1C mutation"; rdfs:comment "preferred label from MONDO" . _:b8d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231120" . a owl:Class; rdfs:subClassOf , , , ; , ; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0016477", "UMLS:CN201472"; "Beckwith-Wiedemann syndrome due to 11p15 microdeletion"; "Orphanet:231127"; ; rdfs:label "Beckwith-Wiedemann syndrome due to 11p15 microdeletion", "Beckwith-Wiedemann syndrome due to 11p15 microdeletion"@en; "ORPHA:231127" . _:b8d7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16370; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16370 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:b8dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:b8dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:231127/attributed", "ORDO:231127/ntbt", "Orphanet:231127" . _:b8ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201472"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b8ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to 11p15 microdeletion"; rdfs:comment "preferred label from MONDO" . _:b8dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231127" . a owl:Class; rdfs:subClassOf , , , ; , ; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0016478", "UMLS:CN201473"; "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"; "Orphanet:231130"; ; rdfs:label "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion", "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"@en; "ORPHA:231130" . _:b8e1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16377; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16377 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:b8e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:b8e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:231130/attributed", "ORDO:231130/ntbt", "Orphanet:231130" . _:b8f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201473"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b8f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"; rdfs:comment "preferred label from MONDO" . _:b8f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231130" . a owl:Class; rdfs:subClassOf , , ; , ; "Silver-Russell syndrome due to 7p11.2-p13 microduplication"@en, "Silver-Russell syndrome due to dup(7)(p11.2p13)"@en, "Silver-Russell syndrome due to trisomy 7p11.2-p13"@en, "Silver-Russell syndrome due to trisomy 7p11.2p13"@en; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0016479", "UMLS:CN201474"; "Silver-Russell syndrome due to 7p11.2-p13 microduplication", "Silver-Russell syndrome due to dup(7)(p11.2p13)", "Silver-Russell syndrome due to trisomy 7p11.2-p13", "Silver-Russell syndrome due to trisomy 7p11.2p13", "silver-Russell syndrome due to 7p11.2p13 microduplication"; "Orphanet:231137"; ; rdfs:label "Silver-Russell syndrome due to 7p11.2p13 microduplication", "Silver-Russell syndrome due to 7p11.2p13 microduplication"@en; "ORPHA:231137" . _:b8f7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16384; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16384 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:b8f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:b8f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:231137/attributed", "ORDO:231137/ntbt", "Orphanet:231137" . _:b8fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201474"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:b8fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to 7p11.2-p13 microduplication"; "Orphanet:231137" . _:b8fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to dup(7)(p11.2p13)"; "Orphanet:231137" . _:b900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to trisomy 7p11.2-p13"; "Orphanet:231137" . _:b903d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to trisomy 7p11.2p13"; "Orphanet:231137" . _:b904d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "silver-Russell syndrome due to 7p11.2p13 microduplication"; rdfs:comment "preferred label from MONDO" . _:b906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231137" . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0016480", "UMLS:CN201475"; "Silver-Russell syndrome due to an imprinting defect of type 11p15", "silver-Russell syndrome due to an imprinting defect of 11p15"; "Orphanet:231140"; ; rdfs:label "Silver-Russell syndrome due to an imprinting defect of 11p15"@en, "Silver-Russell syndrome due to imprinting defect of 11p15"; "ORPHA:231140" . _:b91ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16395; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16395 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:b91cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:b91ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:231140/attributed", "ORDO:231140/ntbt", "Orphanet:231140" . _:b920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201475"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:b928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to an imprinting defect of type 11p15"; "MONDORULE:7", "Orphanet:231140" . _:b929d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "silver-Russell syndrome due to an imprinting defect of 11p15"; rdfs:comment "preferred label from MONDO" . _:b92ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231140" . a owl:Class; rdfs:subClassOf , , ; , ; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0016481", "UMLS:CN201476"; "silver-Russell syndrome due to 11p15 microduplication"; "Orphanet:231144"; ; rdfs:label "Silver-Russell syndrome due to 11p15 microduplication", "Silver-Russell syndrome due to 11p15 microduplication"@en; "ORPHA:231144" . _:b92cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16403; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16403 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:b92dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:b92ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:231144/attributed", "ORDO:231144/ntbt", "Orphanet:231144" . _:b92fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201476"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:b930d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "silver-Russell syndrome due to 11p15 microduplication"; rdfs:comment "preferred label from MONDO" . _:b931d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231144" . a owl:Class; rdfs:subClassOf , , ; , ; "UPD(11)mat"@en; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0016482", "UMLS:CN201477"; "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11", "UPD(11)mat", "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"; "Orphanet:231147"; ; rdfs:label "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11", "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"@en; "ORPHA:231147" . _:b932d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16410; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16410 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:b933d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:b934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:231147/attributed", "ORDO:231147/ntbt", "Orphanet:231147" . _:b935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201477"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:b936d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11"; "MONDORULE:2", "Orphanet:231147" . _:b937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPD(11)mat"; "Orphanet:231147" . _:b938d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"; rdfs:comment "preferred label from MONDO" . _:b939d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231147" . a owl:Class; rdfs:subClassOf , ; "Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia."; , , , , , ; "CID due to partial RAG1 deficiency"@en, "CID with expansion of gamma delta T cells"@en, "Combined immunodeficiency with expansion of gamma delta T cells"@en; "Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia."@en; "orphanet", "orphanet"@en; "ICD-10:D81.8", "ICD10:D81.8", "MESH:C563691", "MONDO:0012359", "OMIM:609889", "SCTID:725290000", "UMLS:C1835931", "UMLS:C4510944"; "CID T+ B+ due to partial RAG1 deficiency", "CID with expansion of gamma delta T cells", "Cid due to partial RAG1 deficiency", "Cid with expansion of gamma delta T cells", "combined immunodeficiency due to partial RAG1 deficiency", "combined immunodeficiency with expansion of gamma delta T cells"; "ALPHA/BETA T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity"; "Orphanet:231154"; ; rdfs:label "Combined immunodeficiency T+ B+ due to partial RAG1 deficiency", "Combined immunodeficiency due to partial RAG1 deficiency"@en; "ORPHA:231154" . _:b93fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia."; "Orphanet:231154" . _:b941d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16420; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16420 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:b944d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:b945d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:231154/attributed", "ORDO:231154/ntbt", "Orphanet:231154" . _:b947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563691"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609889"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609889"; "MONDO:equivalentTo", "ORDO:231154/e", "Orphanet:231154" . _:b954d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725290000"; "MONDO:equivalentTo" . _:b957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1835931"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b958d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1835931"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:609889", "Orphanet:231154" . _:b95dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4510944"; "MEDGEN:kboom-pr95-c96", "MONDO:equivalentTo" . _:b95fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cid due to partial RAG1 deficiency"; "Orphanet:231154" . _:b960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cid with expansion of gamma delta T cells"; "Orphanet:231154" . _:b961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to partial RAG1 deficiency"; rdfs:comment "preferred label from MONDO" . _:b962d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency with expansion of gamma delta T cells"; "Orphanet:231154" . _:b965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPHA/BETA T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity"; "OMIM:609889" . _:b967d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231154" . a owl:Class; rdfs:subClassOf , ; "Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions."; ; , , ; "Cooley anemia"@en, "Mediterranean anemia"@en; "Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions."@en; "orphanet", "orphanet"@en; "ICD-10:D56.1", "ICD10:D56.1", "ICD9:282.49", "MONDO:0016486", "NCIT:C129699", "OMIM:613985", "SCTID:26682008", "UMLS:C0002875"; "Beta thalassemia Major", "Cooley anemia", "Cooley's Anemia", "Mediterranean anemia", "beta-thalassemia major"; "Orphanet:231214"; ; rdfs:label "Beta-thalassemia major", "Beta-thalassemia major"@en; "ORPHA:231214" . _:b968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions."; "Orphanet:231214" . _:b969d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16438; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16438 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.1"; "Attributed"@en . _:b96dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.1"; "NTBT (narrower term maps to a broader term)"@en . _:b96ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.1"; "ORDO:231214/attributed", "ORDO:231214/ntbt", "Orphanet:231214" . _:b971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.49"; "MONDO:relatedTo", "i2s" . _:b972d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129699"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:b975d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613985"; "NTBT (narrower term maps to a broader term)"@en . _:b977d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:26682008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.63" . _:b978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002875"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b979d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beta thalassemia Major"; "NCIT:C129699" . _:b97bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cooley anemia"; "Orphanet:231214" . _:b97cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cooley's Anemia"; "NCIT:C129699" . _:b97ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mediterranean anemia"; "Orphanet:231214" . _:b981d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "beta-thalassemia major"; rdfs:comment "preferred label from MONDO" . _:b982d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:231214" . a owl:Class; rdfs:subClassOf , , , ; "2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.", "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome."; , , ; , , , , , , ; "AD-HIES"@en, "Autosomal dominant HIES"@en, "Autosomal dominant hyperimmunoglobulin E syndrome"@en, "Buckley syndrome"@en, "Hyperimmunoglobulin E syndrome type 1"@en, "Hyperimmunoglobulin E-recurrent infection syndrome"@en, "Job syndrome"@en, "STAT3 deficiency"@en; "Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles."@en; "orphanet", "orphanet"@en; "DOID:3261", "EFO:0003775", "GARD:0006800", "ICD-10:D82.4", "ICD10:D82.4", "MONDO:0007818", "NCIT:C126342", "OMIM:147060", "SCTID:50926003", "UMLS:C2936739", "UMLS:C3489795", "UMLS:C3887645"; "AD-HIES", "Autosomal dominant HIES", "Autosomal dominant hyperimmunoglobulin E syndrome", "Buckley syndrome", "Hyper-IgE recurrent infection syndrome 1", "Hyperimmunoglobulin E syndrome type 1", "Hyperimmunoglobulin E-recurrent infection syndrome", "Job syndrome", "Job syndrome autosomal dominant", "Job's syndrome", "STAT3 deficiency", "autosomal dominant HIES", "autosomal dominant hyper-IgE syndrome", "autosomal dominant hyperimmunoglobulin E syndrome", "hyper-IgE recurrent infection syndrome", "hyper-IgE syndrome, autosomal dominant", "hyperimmunoglobulin E syndrome", "hyperimmunoglobulin E syndrome type 1", "hyperimmunoglobulin E-recurrent infection syndrome"; "AD hyperimmunoglobulin E syndrome", "HIES autosomal dominant", "HIES, autosomal dominant", "autosomal dominant hyper IgE syndrome", "hyper Ig E syndrome, autosomal dominant", "hyper-IgE recurrent infection syndrome, autosomal dominant", "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant"; "Orphanet:2314"; , ; rdfs:label "Autosomal dominant hyper-IgE syndrome", "Autosomal dominant hyper-IgE syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome"^^xsd:anyURI; "ORPHA:2314" . _:b996d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome."; "NCIT:C126342" . _:b997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3261"; "EFO:0003775", "MONDO:equivalentTo" . _:b998d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0003775"; "MONDO:equivalentTo" . _:b999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006800"; "MONDO:equivalentTo" . _:b99ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16457; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16457 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.4"; "Attributed"@en . _:b99bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.4"; "NTBT (narrower term maps to a broader term)"@en . _:b99dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D82.4"; "ORDO:2314/attributed", "ORDO:2314/ntbt", "Orphanet:2314" . _:b9a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126342"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.73/1.33" . _:b9a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147060"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b9a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147060"; "DOID:3261", "EFO:0003775", "GARD:0006800", "MONDO:equivalentTo", "ORDO:2314/e", "Orphanet:2314" . _:b9a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:50926003"; "EFO:0003775", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:b9a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936739"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b9a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3489795"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b9a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3887645"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b9aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AD-HIES"; "GARD:0006800", "Orphanet:2314" . _:b9add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Buckley syndrome"; "Orphanet:2314" . _:b9afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyper-IgE recurrent infection syndrome 1"; rdfs:comment "preferred label from MONDO" . _:b9b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Job syndrome"; "DOID:3261", "OMIM:147060", "Orphanet:2314" . _:b9b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Job syndrome autosomal dominant"; "GARD:0006800" . _:b9b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Job's syndrome"; "MONDO:LexicalVariant", "doi:10.1093/jama/9780195176339.003.0016" . _:b9b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STAT3 deficiency"; "Orphanet:2314" . _:b9bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant HIES"; "Orphanet:2314" . _:b9bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hyper-IgE syndrome"; "NCIT:C126342" . _:b9bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hyperimmunoglobulin E syndrome"; "Orphanet:2314" . _:b9bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper-IgE recurrent infection syndrome"; "NCIT:C126342" . _:b9c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper-IgE syndrome, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:b9c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperimmunoglobulin E syndrome"; "DOID:3261" . _:b9c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperimmunoglobulin E syndrome type 1"; "Orphanet:2314" . _:b9c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperimmunoglobulin E-recurrent infection syndrome"; "Orphanet:2314" . _:b9c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AD hyperimmunoglobulin E syndrome"; "GARD:0006800" . _:b9c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIES autosomal dominant"; "GARD:0006800" . _:b9c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIES, autosomal dominant"; "OMIM:147060" . _:b9c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hyper IgE syndrome"; "GARD:0006800" . _:b9cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper Ig E syndrome, autosomal dominant"; "GARD:0006800" . _:b9cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper-IgE recurrent infection syndrome, autosomal dominant"; "OMIM:147060" . _:b9ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant"; "GARD:0006800" . _:b9cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2314" . _:b9ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome"^^xsd:anyURI; "GARD:0006800" . a owl:Class; rdfs:subClassOf ; "Pure APAC"@en, "Pure aldosterone-producing adrenocortical carcinoma"@en, "Pure aldosterone-secreting adrenocortical carcinoma"@en; "Adrenocortical carcinoma with pure aldosterone hypersecretion (pure APAC) is a very rare surgically-correctable form of primary aldosteronism (PA; see this term) due to an aldosterone-secreting adrenal malignancy."@en; "orphanet"@en; "ICD-10:C74.0"; rdfs:label "Adrenocortical carcinoma with pure aldosterone hypersecretion"@en; "ORPHA:231625" . _:b9cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C74.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare non surgically correctable form of primary aldosteronism"@en; "ORPHA:231641" . a owl:Class; rdfs:subClassOf , , , , ; "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease."; , , , , ; "Arima syndrome"@en, "CORS"@en, "Cerebellooculorenal syndrome"@en, "Dekaban-Arima syndrome"@en, "JS type B"@en, "JS-OR"@en, "Joubert syndrome with Senior-Loken syndrome"@en; "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease."@en; "orphanet", "orphanet"@en; "GARD:0009455", "ICD-10:Q04.3", "ICD10:Q04.3", "MESH:C537430", "MONDO:0009480", "OMIM:243910", "OMIM:608091", "OMIM:610188", "OMIM:612285", "OMIM:614424", "OMIM:614465", "OMIM:614844", "SCTID:721862000", "UMLS:C1855675"; "Arima syndrome", "CORS", "Cerebello-oculo-renal syndrome", "Cerebellooculorenal syndrome", "Dekaban-Arima syndrome", "JS type B", "JS-OR", "Joubert syndrome with Senior-Loken syndrome", "Joubert syndrome with oculorenal defect"; "Dekaban Arima syndrome", "Joubert syndrome 5", "Joubert syndrome with bilateral chorioretinal coloboma", "Joubert syndrome with oculorenal anomalies", "cerebello-oculo-renal syndrome", "cerebro-oculo-hepato-renal syndrome", "cerebrooculohepatorenal syndrome", "chorioretinal coloboma with cerebellar vermis aplasia", "coloboma, chorioretinal, with cerebellar vermis aplasia"; "Orphanet:2318"; , ; rdfs:label "Joubert syndrome with oculorenal defect", "Joubert syndrome with oculorenal defect"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies"^^xsd:anyURI; "ORPHA:2318" . _:b9ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease."; "Orphanet:2318" . _:b9ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009455"; "MONDO:equivalentTo" . _:b9e1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16495; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16495 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "Attributed"@en . _:b9e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "NTBT (narrower term maps to a broader term)"@en . _:b9e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "ORDO:2318/attributed", "ORDO:2318/ntbt", "Orphanet:2318" . _:b9e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537430"; "MONDO:equivalentTo", "MONDO:ontobio" . _:b9e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:243910"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b9ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:243910"; "GARD:0009455", "MONDO:equivalentTo", "ORDO:2318/e", "Orphanet:2318" . _:b9edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608091"; "BTNT (broader term maps to a narrower term)"@en . _:b9efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610188"; "BTNT (broader term maps to a narrower term)"@en . _:b9f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612285"; "BTNT (broader term maps to a narrower term)"@en . _:b9f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614424"; "BTNT (broader term maps to a narrower term)"@en . _:b9f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614465"; "BTNT (broader term maps to a narrower term)"@en . _:b9f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614844"; "NTBT (narrower term maps to a broader term)"@en . _:b9f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721862000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:b9fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855675"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:b9fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855675"; "GARD:0009455", "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:243910", "Orphanet:2318" . _:b9fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arima syndrome"; "Orphanet:2318" . _:ba01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CORS"; "Orphanet:2318" . _:ba02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cerebellooculorenal syndrome"; "Orphanet:2318" . _:ba03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dekaban-Arima syndrome"; "Orphanet:2318" . _:ba04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JS type B"; "GARD:0009455", "Orphanet:2318" . _:ba05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JS-OR"; "GARD:0009455", "Orphanet:2318" . _:ba06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with Senior-Loken syndrome"; "Orphanet:2318" . _:ba07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with oculorenal defect"; "GARD:0009455" . _:ba08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with oculorenal defect"; rdfs:comment "preferred label from MONDO" . _:ba09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dekaban Arima syndrome"; "GARD:0009455" . _:ba0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome 5"; "GARD:0009455" . _:ba0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with bilateral chorioretinal coloboma"; "GARD:0009455", "OMIM:243910" . _:ba0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome with oculorenal anomalies"; "GARD:0009455" . _:ba16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebello-oculo-renal syndrome"; "GARD:0009455" . _:ba17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebro-oculo-hepato-renal syndrome"; "GARD:0009455" . _:ba18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebrooculohepatorenal syndrome"; "OMIM:243910" . _:ba19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chorioretinal coloboma with cerebellar vermis aplasia"; "GARD:0009455" . _:ba1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coloboma, chorioretinal, with cerebellar vermis aplasia"; "OMIM:243910" . _:ba1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2318" . _:ba2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies"^^xsd:anyURI; "GARD:0009455" . a owl:Class; rdfs:subClassOf , , , , , , ; "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur."; , , , , , , , , , , ; , , , , , , ; "Sickle cell disease"@en; "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur."@en; "orphanet"@en; "true"; "DOID:10923", "EFO:1001797", "GARD:0008614", "ICD-10:D57.0", "ICD-10:D57.1", "ICD-10:D57.2", "ICD10:D57", "ICD10:D57.0", "ICD10:D57.1", "ICD10:D57.2", "ICD10:D57.20", "ICD9:282.6", "ICD9:282.60", "ICD9:282.63", "MESH:D000755", "MONDO:0011382", "MSH:D000755", "MeSH:D000755", "MedDRA:10040641", "NCIT:C34383", "OMIM:603903", "UMLS:C0002895"; "Hb SC disease", "Hb-S/Hb-C disease", "Hb-SS disease without crisis", "Hemoglobin S disease without crisis", "Sickle cell disease", "drepanocytosis", "hemoglobin SC disease", "sickle cell anemia", "sickle cell disease", "sickle-cell/Hb-C disease without crisis", "sickling disorder due to Hemoglobin S"; "HbS disease", "Hemoglobin S disease"; "Orphanet:232"; ; rdfs:label "Sickle cell anemia", "Sickle cell anemia"@en; "ORPHA:232" . _:ba36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur."; "Orphanet:232" . _:ba38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10923"; "MONDO:equivalentTo" . _:ba3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1001797"; "MONDO:equivalentTo" . _:ba3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008614"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:ba3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.0"; "BTNT (broader term maps to a narrower term)"@en . _:ba3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.0"; "Specific code (The term has its own code in the ICD10)"@en . _:ba40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.1"; "BTNT (broader term maps to a narrower term)"@en . _:ba45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.1"; "Specific code (The term has its own code in the ICD10)"@en . _:ba46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.2"; "BTNT (broader term maps to a narrower term)"@en . _:ba47d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16540; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16540 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.2"; "Specific code (The term has its own code in the ICD10)"@en . _:ba49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57"; "DOID:10923" . _:ba4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.0"; "ORDO:232/btnt", "ORDO:232/specific", "Orphanet:232" . _:ba4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.1"; "DOID:10923", "ORDO:232/btnt", "ORDO:232/specific", "Orphanet:232" . _:ba50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.2"; "DOID:10923", "ORDO:232/btnt", "ORDO:232/specific", "Orphanet:232" . _:ba53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.20"; "DOID:10923" . _:ba55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.6"; "DOID:10923" . _:ba57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.60"; "DOID:10923" . _:ba59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.63"; "DOID:10923" . _:ba5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000755"; "DOID:10923", "MONDO:equivalentTo", "ORDO:232/e", "Orphanet:232" . _:ba5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000755"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ba5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10040641"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ba5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10040641"; "ORDO:232/e", "Orphanet:232" . _:ba60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34383"; "DOID:10923", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.08" . _:ba61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603903"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ba62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603903"; "DOID:10923", "MONDO:equivalentTo", "ORDO:232/e", "Orphanet:232" . _:ba63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002895"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ba67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002895"; "DOID:10923", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C34383", "OMIM:603903", "ORDO:232/e", "Orphanet:232" . _:ba68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hb SC disease"; "DOID:10923" . _:ba69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hb-S/Hb-C disease"; "DOID:10923", "MTHICD9_2006:282.63" . _:ba6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hb-SS disease without crisis"; "DOID:10923" . _:ba6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemoglobin S disease without crisis"; "DOID:10923" . _:ba6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "drepanocytosis"; "DOID:10923" . _:ba70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemoglobin SC disease"; "DOID:10923" . _:ba71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sickle cell anemia"; "OMIM:603903" . _:ba72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sickle cell anemia"; rdfs:comment "preferred label from MONDO" . _:ba73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sickle cell disease"; "Orphanet:232" . _:ba75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sickle-cell/Hb-C disease without crisis"; "DOID:10923", "ICD9CM_2006:282.63" . _:ba79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sickling disorder due to Hemoglobin S"; "NCIT:C34383" . _:ba7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HbS disease"; "GARD:0008614" . _:ba7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemoglobin S disease"; "GARD:0008614" . _:ba7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:232" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , ; "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency."; ; , , , , , , ; "Kabuki make-up syndrome"@en, "Niikawa-Kuroki syndrome"@en; "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency."@en; "orphanet", "orphanet"@en; "DOID:0060473", "GARD:0006810", "ICD-10:Q87.0", "ICD10:Q87.0", "MESH:C537705", "MONDO:0016512", "MSH:C537705", "MeSH:C537705", "MedDRA:10063935", "NCIT:C124837", "OMIM:147920", "OMIM:300867", "OMIMPS:147920", "SCTID:313426007", "UMLS:C0796004"; "KMS", "Kabuki make up syndrome", "Kabuki make-up syndrome", "Kabuki syndrome", "Niikawa-Kuroki syndrome"; "NKS"; "Orphanet:2322"; ; rdfs:label "Kabuki syndrome", "Kabuki syndrome"@en; "ORPHA:2322" . _:ba8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency."; "Orphanet:2322" . _:ba8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060473"; "MONDO:equivalentTo" . _:ba91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006810"; "MONDO:equivalentTo", "Orphanet-shared" . _:ba94d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16576; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16576 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "Attributed"@en . _:ba96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "NTBT (narrower term maps to a broader term)"@en . _:ba98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.0"; "ORDO:2322/attributed", "ORDO:2322/ntbt", "Orphanet:2322" . _:ba99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537705"; "DOID:0060473", "MONDO:equivalentTo", "ORDO:2322/e", "Orphanet:2322" . _:ba9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537705"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ba9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063935"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ba9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063935"; "ORDO:2322/e", "Orphanet:2322" . _:baa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C124837"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.74/0.91" . _:baa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147920"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:baa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300867"; "BTNT (broader term maps to a narrower term)"@en . _:baa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:147920"; "MONDO:cjm", "MONDO:equivalentTo" . _:baa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:313426007"; "DOID:0060473", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.74/1.38" . _:baa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796004"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:baa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796004"; "DOID:0060473", "MONDO:equivalentTo", "NCIT:C124837", "ORDO:2322/e", "Orphanet:2322" . _:baabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KMS"; "DOID:0060473" . _:baadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kabuki make up syndrome"; "DOID:0060473" . _:baafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kabuki make-up syndrome"; "Orphanet:2322" . _:bab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kabuki syndrome"; rdfs:comment "preferred label from MONDO" . _:bab1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niikawa-Kuroki syndrome"; "DOID:0060473", "Orphanet:2322" . _:bab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NKS"; "GARD:0006810" . _:bab6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2322" . a owl:Class; rdfs:subClassOf , , , , , , ; "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features."; , , , , , ; "HRD syndrome"@en, "Hypoparathyroidism-intellectual disability-dysmorphism syndrome"@en, "Hypoparathyroidism-short stature-intellectual disability-seizures syndrome"@en, "Richardson-Kirk syndrome"@en, "SSS"@en; "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features."@en; "orphanet"@en; "DOID:0060348", "GARD:0000411", "ICD-10:Q87.1", "ICD10:Q87.1", "MESH:C537157", "MONDO:0009426", "NCIT:C133727", "OMIM:241410", "UMLS:C1855840"; "HRD syndrome", "HRDS", "Hypoparathyroidism - intellectual disability - dysmorphism", "Hypoparathyroidism - short stature - intellectual disability - seizures", "Middle-East syndrome", "Richadson-Kirk syndrome", "Richardson-Kirk syndrome", "SSS", "Sanjad-Sakati syndrome", "hypoparathyroidism with short stature, mental retardation and seizures", "hypoparathyroidism-intellectual disability-dysmorphism syndrome", "hypoparathyroidism-retardation-dysmorphism syndrome", "hypoparathyroidism-short stature-intellectual disability-seizures syndrome"; "HRD", "hypoparathyroidism with short stature, intellectual disability and seizures", "hypoparathyroidism with short stature, mental retardation, and seizures", "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay", "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay", "hypoparathyroidism-retardation-dysmorphism syndrome; HRD", "hypoparathyroidism-retardation-dysmorphism syndrome; HRDS"; "Orphanet:2323"; ; rdfs:label "Sanjad-Sakati syndrome", "Sanjad-Sakati syndrome"@en; "ORPHA:2323" . _:babfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features."; "Orphanet:2323" . _:bac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060348"; "MONDO:equivalentTo" . _:bac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000411"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:bac3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16601; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16601 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:bac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:bac9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:2323/attributed", "ORDO:2323/ntbt", "Orphanet:2323" . _:bacad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537157"; "DOID:0060348", "MONDO:equivalentTo", "MONDO:ontobio" . _:baccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C133727"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.86/1.21" . _:baced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:241410"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bacfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:241410"; "DOID:0060348", "MONDO:equivalentTo", "ORDO:2323/e", "Orphanet:2323" . _:bad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855840"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bad2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855840"; "DOID:0060348", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C133727", "OMIM:241410", "ORDO:2323/e", "Orphanet:2323" . _:bad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HRD syndrome"; "DOID:0060348", "Orphanet:2323" . _:bad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HRDS"; "NCIT:C133727" . _:bad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Richardson-Kirk syndrome"; "Orphanet:2323" . _:bad9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SSS"; "Orphanet:2323" . _:badbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sanjad-Sakati syndrome"; "DOID:0060348", "OMIM:241410" . _:baded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism with short stature, mental retardation and seizures"; "DOID:0060348" . _:bae0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-intellectual disability-dysmorphism syndrome"; "Orphanet:2323" . _:bae2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-retardation-dysmorphism syndrome"; "MONDO:Lexical", "OMIM:241410" . _:bae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-retardation-dysmorphism syndrome"; rdfs:comment "preferred label from MONDO" . _:bae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-short stature-intellectual disability-seizures syndrome"; "Orphanet:2323" . _:bae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HRD"; "MONDO:Lexical", "OMIM:241410" . _:bae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism with short stature, intellectual disability and seizures"; "GARD:0000411" . _:baebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism with short stature, mental retardation, and seizures"; "OMIM:241410" . _:baecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay"; "OMIM:241410" . _:baeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay"; "GARD:0000411" . _:baefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-retardation-dysmorphism syndrome; HRD"; "OMIM:241410" . _:baf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-retardation-dysmorphism syndrome; HRDS"; "OMIM:241410" . _:baf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2323" . a owl:Class; rdfs:subClassOf ; "Mucocutaneous lymph node syndrome"@en; "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood."@en; "orphanet"@en; "ICD-10:M30.3", "MedDRA:10023320", "OMIM:611775", "UMLS:C0026691"; rdfs:label "Kawasaki disease"@en; "ORPHA:2331" . _:baf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M30.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:baf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10023320"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:baf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611775"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:baf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026691"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "OMIM:132900", "OMIM:611788", "OMIM:613780", "OMIM:615436"; rdfs:label "Rare genetic vascular disease" . a owl:Class; rdfs:subClassOf , , , ; "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol."; , , , , , ; "FH"@en; "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol."@en; "orphanet", "orphanet"@en; "ICD-10:E26.0", "ICD10:E26.0", "MESH:C580087", "MONDO:0016525", "OMIM:617027", "Orphanet:371861", "SCTID:703231005", "UMLS:C3713420", "UMLS:CN229602"; "FH", "familial hyperaldosteronism", "genetic hyperaldosteronism", "hereditary hyperaldosteronism"; "Orphanet:235936"; ; rdfs:label "Familial hyperaldosteronism", "Familial hyperaldosteronism"@en; "ORPHA:235936" . _:bafdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol."; "Orphanet:235936" . _:bafed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16634; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16634 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "Attributed"@en . _:bb00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "NTBT (narrower term maps to a broader term)"@en . _:bb02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.0"; "MONDO:relatedTo", "MONDO:subClassOf", "ORDO:235936/attributed", "ORDO:235936/ntbt", "ORDO:371861/attributed", "ORDO:371861/ntbt", "Orphanet:235936", "Orphanet:371861" . _:bb05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580087"; "MONDO:equivalentTo", "MONDO:ontobio" . _:bb06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617027"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bb07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:371861"; "MONDO:equivalentTo" . _:bb08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703231005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:bb0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3713420"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3713420"; "MONDO:equivalentTo", "Orphanet:235936" . _:bb0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN229602"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:bb10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH"; "Orphanet:235936" . _:bb12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperaldosteronism"; rdfs:comment "preferred label from MONDO" . _:bb15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hyperaldosteronism"; "MONDO:0018300", "MONDO:patterns/genetic" . _:bb16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hyperaldosteronism"; "MONDO:patterns/hereditary" . _:bb18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:235936", "Orphanet:371861" . a owl:Class; rdfs:subClassOf , ; , ; "GARD:0003159", "ICD10:E74.4", "MESH:C580233", "MONDO:0016527", "OMIM:612933", "OMIM:614128"; "GSD due to lactate dehydrogenase deficiency", "Glycogenosis due to lactate dehydrogenase deficiency", "LDH deficiency", "glycogen storage disease due to lactate dehydrogenase deficiency", "glycogenosis due to lactate dehydrogenase deficiency"; "lactate dehydrogenase deficiency"; "Orphanet:2364"; ; rdfs:label "Glycogen storage disease due to lactate dehydrogenase deficiency" . _:bb1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003159"; "MONDO:equivalentTo", "Orphanet-shared" . _:bb1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.4"; "ORDO:2364/attributed", "ORDO:2364/ntbt", "Orphanet:2364" . _:bb20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580233"; "MONDO:equivalentTo" . _:bb21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to lactate dehydrogenase deficiency"; "Orphanet:2364" . _:bb22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LDH deficiency"; "Orphanet:2364" . _:bb23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to lactate dehydrogenase deficiency"; rdfs:comment "preferred label from MONDO" . _:bb25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to lactate dehydrogenase deficiency"; "Orphanet:2364" . _:bb26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lactate dehydrogenase deficiency"; "GARD:0003159" . _:bb27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2364" . a owl:Class; rdfs:subClassOf ; "Laparoschisis"@en; "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated."@en; "orphanet"@en; "ICD-10:Q79.3", "MeSH:D020139", "MedDRA:10018046", "OMIM:230750", "UMLS:C0265706"; rdfs:label "Gastroschisis"@en; "ORPHA:2368" . _:bb28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020139"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018046"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:230750"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265706"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies."; , ; , , , , , , , , ; "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies."@en; "orphanet"@en; "DOID:0050561", "GARD:0009912", "ICD-10:G40.4", "ICD10:G40.4", "MESH:D065768", "MONDO:0016532", "MSH:C535500", "MeSH:C535500", "MedDRA:10048816", "NCIT:C84816", "OMIM:606369", "OMIM:615369", "OMIM:616346", "OMIM:617113", "OMIM:618141", "SCTID:230418006", "UMLS:C0238111"; "LGS", "Lennox syndrome", "Lennox-Gastaut syndrome"; "encephalopathy of childhood", "epileptic encephalopathy Lennox-Gastaut type", "macrocephaly and epileptic encephalopathy"; "Orphanet:2382"; , ; rdfs:label "Lennox-Gastaut syndrome", "Lennox-Gastaut syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome"^^xsd:anyURI; "ORPHA:2382" . _:bb43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies."; "Orphanet:2382" . _:bb45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050561"; "MONDO:equivalentTo" . _:bb46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009912"; "MONDO:equivalentTo" . _:bb48d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16667; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16667 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:bb53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "NTBT (narrower term maps to a broader term)"@en . _:bb54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.4"; "ORDO:2382/inclusion", "ORDO:2382/ntbt", "Orphanet:2382" . _:bb58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D065768"; "MONDO:equivalentTo", "MONDO:ontobio" . _:bb5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048816"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048816"; "ORDO:2382/e", "Orphanet:2382" . _:bb5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84816"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:bb5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606369"; "DOID:0050561", "MONDO:equivalentTo" . _:bb62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615369"; "BTNT (broader term maps to a narrower term)"@en . _:bb64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615369"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bb66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616346"; "BTNT (broader term maps to a narrower term)"@en . _:bb67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617113"; "BTNT (broader term maps to a narrower term)"@en . _:bb69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618141"; "BTNT (broader term maps to a narrower term)"@en . _:bb6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230418006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:bb6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238111"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238111"; "MONDO:equivalentTo", "NCIT:C84816", "ORDO:2382/e", "Orphanet:2382" . _:bb6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGS"; "NCIT:C84816" . _:bb72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lennox syndrome"; "DOID:0050561" . _:bb73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lennox-Gastaut syndrome"; rdfs:comment "preferred label from MONDO" . _:bb74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephalopathy of childhood"; "GARD:0009912" . _:bb75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epileptic encephalopathy Lennox-Gastaut type"; "GARD:0009912" . _:bb76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrocephaly and epileptic encephalopathy"; "OMIM:606369" . _:bb78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009912" . _:bb79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2382" . _:bb7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome"^^xsd:anyURI; "GARD:0009912" . a owl:Class; rdfs:subClassOf , , , ; "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."; , , , , , ; "IPD"@en, "PKDYS"@en; "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."@en; "orphanet", "orphanet"@en; "GARD:0010484", "MESH:C567730", "MONDO:0013150", "NCIT:C129866", "OMIM:613135", "OMIM:618049", "OMIMPS:613135", "SCTID:722763000", "UMLS:C2751067"; "IPD", "PKDYS", "infantile dystonia-parkinsonism"; "PARKINSONISM-dystonia, infantile", "PARKINSONISM-dystonia, infantile; PKDYS", "Parkinsonism-dystonia infantile", "dopamine transporter deficiency syndrome", "infantile Parkinsonism-dystonia"; "Orphanet:238455"; , ; rdfs:label "Infantile dystonia-parkinsonism", "Infantile dystonia-parkinsonism"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia"^^xsd:anyURI; "ORPHA:238455" . _:bb7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."; "Orphanet:238455" . _:bb81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010484"; "MONDO:equivalentTo" . _:bb82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567730"; "MONDO:equivalentTo", "MONDO:ontobio" . _:bb86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129866"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.83" . _:bb89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613135"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:613135"; "MONDO:equivalentTo" . _:bb8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722763000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/11.17" . _:bb8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2751067"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bb8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2751067"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C129866", "OMIM:613135", "ORDO:238455/e", "Orphanet:238455" . _:bb8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPD"; "Orphanet:238455" . _:bb91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PKDYS"; "MONDO:Lexical", "OMIM:613135", "Orphanet:238455" . _:bb92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile dystonia-parkinsonism"; rdfs:comment "preferred label from MONDO" . _:bb94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PARKINSONISM-dystonia, infantile"; "MONDO:Lexical", "OMIM:613135" . _:bb98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PARKINSONISM-dystonia, infantile; PKDYS"; "OMIM:613135" . _:bb99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Parkinsonism-dystonia infantile"; "GARD:0010484" . _:bb9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dopamine transporter deficiency syndrome"; "OMIM:613135" . _:bb9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile Parkinsonism-dystonia"; "GARD:0010484" . _:bb9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010484" . _:bba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:238455" . _:bba1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia"^^xsd:anyURI; "GARD:0010484" . a owl:Class; rdfs:subClassOf , , , , ; "A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).", "Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)."; "Sirarat Sarntivijai"; , ; , , , ; "orphanet"; "DOID:14793", "GARD:0000076", "HP:0007607", "ICD10:Q82.4", "MONDO:0016535", "MSH:D053358", "MSH:D053359", "NCIT:C84562", "OMIM:129490", "OMIM:224900", "OMIM:300291", "OMIM:305100", "OMIM:612132", "OMIM:614940", "OMIM:614941", "SCTID:239007005"; "Anhidrotic ectodermal dysplasia", "Christ-Siemens-Touraine Syndrome", "Christ-Siemens-Touraine syndrome", "Ectodermal Dysplasia 1, Anhidrotic", "Ectodermal Dysplasia 1, Anhydrotic", "Ectodermal Dysplasia 3, Anhidrotic", "HED", "Hypohidrotic X-linked ectodermal dysplasia (disorder)", "anhidrotic ectodermal dysplasia", "anhidrotic ectodermal dysplasia 1", "anhidrotic ectodermal dysplasia 3", "ectodermal dysplasia 1, Anhydrotic", "hypohidrotic X-linked ectodermal dysplasia", "hypohidrotic ectodermal dysplasia"; "CST syndrome", "EDA", "ectodermal dysplasia anhidrotic", "ectodermal dysplasia, hypohidrotic"; "Orphanet:238468"; , ; rdfs:comment "DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic"; rdfs:label "Hypohidrotic ectodermal dysplasia" . _:bba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth)."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)."; "Orphanet:238468" . _:bbacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14793"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14793"; "MONDO:equivalentTo" . _:bbafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000076"; "MONDO:equivalentTo" . _:bbb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0007607"; "MONDO:otherHierarchy" . _:bbb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.4"; "ORDO:238468/e", "ORDO:238468/specific", "Orphanet:238468" . _:bbb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D053358"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D053359"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84562"; "DOID:14793", "MONDO:equivalentTo" . _:bbbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:239007005"; "DOID:14793", "MONDO:equivalentTo", "MONDO:kboom-pr-0.84/0.66/0.22" . _:bbbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Christ-Siemens-Touraine Syndrome"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Christ-Siemens-Touraine syndrome"; "DOID:14793" . _:bbc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ectodermal Dysplasia 1, Anhidrotic"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ectodermal Dysplasia 1, Anhydrotic"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ectodermal Dysplasia 3, Anhidrotic"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HED"; "GARD:0000076", "Orphanet:238468" . _:bbc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypohidrotic X-linked ectodermal dysplasia (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anhidrotic ectodermal dysplasia"; "GARD:0000076", "Orphanet:238468" . _:bbcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anhidrotic ectodermal dysplasia 1"; "NCIT:C84562" . _:bbcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anhidrotic ectodermal dysplasia 3"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bbced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anhidrotic ectodermal dysplasia 3"; "DOID:14793" . _:bbd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia 1, Anhydrotic"; "DOID:14793" . _:bbd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypohidrotic X-linked ectodermal dysplasia"; "DOID:14793" . _:bbd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypohidrotic ectodermal dysplasia"; rdfs:comment "preferred label from MONDO" . _:bbd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CST syndrome"; "GARD:0000076" . _:bbd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDA"; "GARD:0000076" . _:bbd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia anhidrotic"; "GARD:0000076" . _:bbd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia, hypohidrotic"; "GARD:0000076" . _:bbdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:238468" . a owl:Class; rdfs:subClassOf , , ; "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)."; ; , , , , , ; "DOID:0060704", "MESH:D008232", "MONDO:0016537", "NCIT:C9308", "OMIMPS:308240", "SCTID:277466009", "UMLS:C0024314", "UMLS:CN201619"; "lymphoproliferative disorder", "lymphoproliferative syndrome"; "Orphanet:238510"; ; rdfs:label "Lymphoproliferative syndrome", "Lymphoproliferative syndrome"@en; "ORPHA:238510" . _:bbdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)."; "NCIT:C9308" . _:bbe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060704"; "MONDO:equivalentTo" . _:bbe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008232"; "MONDO:equivalentTo" . _:bbe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9308"; "MONDO:equivalentTo" . _:bbe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:308240"; "DOID:0060704", "MONDO:equivalentTo" . _:bbe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:277466009"; "MONDO:equivalentTo" . _:bbe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024314"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bbead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201619"; "MONDO:equivalentTo" . _:bbebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoproliferative disorder"; "NCIT:C9308" . _:bbecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoproliferative syndrome"; rdfs:comment "preferred label from MONDO" . _:bbedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:238510" . a owl:Class; rdfs:subClassOf , , ; "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene."; , , , ; "IL10-related early-onset IBD"@en, "IL10-related early-onset inflammatory bowel disease"@en; "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."@en; "orphanet"@en; "DOID:0110909", "ICD-10:K52.8", "ICD10:K52.8", "MESH:C567251", "OMIM:612567", "OMIM:613148", "OMIM:615767", "UMLS:C2675508"; "Autosomal recessive early-onset IBD", "IBD25", "IL10RB inflammatory bowel disease", "early onset autosomal recessive inflammatory bowel disease 25", "inflammatory bowel disease 25", "inflammatory bowel disease caused by mutation in IL10RB", "inflammatory bowel disease type 25"; "inflammatory bowel disease 25, autosomal recessive", "inflammatory bowel disease 25, autosomal recessive; IBD25", "inflammatory bowel disease, early-onset, autosomal recessive"; "Orphanet:238569"; rdfs:label "Autosomal recessive early-onset inflammatory bowel disease", "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"@en; "ORPHA:238569" . _:bbefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene."; "MONDO:patterns/disease_series_by_gene" . _:bbf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110909"; "MONDO:equivalentTo" . _:bbf3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16758; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16758 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K52.8"; "Attributed"@en . _:bbf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K52.8"; "NTBT (narrower term maps to a broader term)"@en . _:bbf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567251"; "MONDO:equivalentTo" . _:bbfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612567"; "BTNT (broader term maps to a narrower term)"@en . _:bbfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612567"; "DOID:0110909", "MONDO:equivalentTo" . _:bc00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613148"; "BTNT (broader term maps to a narrower term)"@en . _:bc02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615767"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bc05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2675508"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:612567" . _:bc07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBD25"; "DOID:0110909", "MONDO:Lexical", "OMIM:612567" . _:bc09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL10RB inflammatory bowel disease"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:bc0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early onset autosomal recessive inflammatory bowel disease 25"; "DOID:0110909" . _:bc0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory bowel disease 25"; rdfs:comment "preferred label from MONDO" . _:bc0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory bowel disease caused by mutation in IL10RB"; "MONDO:design_pattern" . _:bc10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory bowel disease type 25"; "DOID:0110909", "MONDORULE:2" . _:bc12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory bowel disease 25, autosomal recessive"; "MONDO:Lexical", "OMIM:612567" . _:bc14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory bowel disease 25, autosomal recessive; IBD25"; "OMIM:612567" . _:bc15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inflammatory bowel disease, early-onset, autosomal recessive"; "OMIM:612567" . a owl:Class; rdfs:subClassOf , , ; "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA; see this term) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine."; , , , ; "Hyperphenylalaninemia due to BH4 deficiency"@en, "Non-phenylketonuric hyperphenylalaninemia"@en; "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA; see this term) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine."@en; "orphanet"@en; "hyperphenylalaninemia"; "DC:0000202", "GARD:0007751", "ICD-10:E70.1", "ICD10:E70.1", "MONDO:0016543", "OMIM:233910", "OMIM:261630", "OMIM:261640", "OMIM:264070", "SCTID:68528007", "UMLS:C0751435", "UMLS:C0751436"; "Hyperphenylalaninemia due to BH4 deficiency", "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "Non-phenylketonuric hyperphenylalaninemia", "hyperphenylalaninemia due to BH4 deficiency", "hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "non-phenylketonuric hyperphenylalaninemia"; "Orphanet:238583"; ; rdfs:label "Hyperphenylalaninemia", "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency"@en; "ORPHA:238583" . _:bc19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA; see this term) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine."; "Orphanet:238583" . _:bc1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia"; "Orphanet:238583" . _:bc1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000202"; "MONDO:equivalentTo" . _:bc1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007751"; "MONDO:equivalentTo" . _:bc1dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16780; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16780 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "Attributed"@en . _:bc1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "NTBT (narrower term maps to a broader term)"@en . _:bc1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.1"; "ORDO:238583/attributed", "ORDO:238583/ntbt", "Orphanet:238583" . _:bc21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233910"; "BTNT (broader term maps to a narrower term)"@en . _:bc23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261630"; "BTNT (broader term maps to a narrower term)"@en . _:bc25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261640"; "BTNT (broader term maps to a narrower term)"@en . _:bc27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264070"; "BTNT (broader term maps to a narrower term)"@en . _:bc28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:68528007"; "MONDO:equivalentTo" . _:bc29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751435"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bc2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751435"; "MONDO:equivalentTo", "Orphanet:238583" . _:bc2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751436"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bc30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to BH4 deficiency"; "Orphanet:238583" . _:bc32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to tetrahydrobiopterin deficiency"; "Orphanet:238583" . _:bc36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia due to tetrahydrobiopterin deficiency"; rdfs:comment "preferred label from MONDO" . _:bc37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-phenylketonuric hyperphenylalaninemia"; "Orphanet:238583" . _:bc38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:238583" . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0016547", "OMIM:130650", "UMLS:CN201629"; "Beckwith-Wiedemann syndrome due to NSD1 mutation"; "Orphanet:238613"; ; rdfs:label "Beckwith-Wiedemann syndrome due to NSD1 mutation", "Beckwith-Wiedemann syndrome due to NSD1 mutation"@en; "ORPHA:238613" . _:bc3dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16797; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16797 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:bc41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:bc42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:238613/attributed", "ORDO:238613/ntbt", "Orphanet:238613" . _:bc5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:130650"; "NTBT (narrower term maps to a broader term)"@en . _:bc5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201629"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:bc62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to NSD1 mutation"; rdfs:comment "preferred label from MONDO" . _:bc63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:238613" . a owl:Class; rdfs:subClassOf , ; "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome."; , ; "ICD-10:E23.0", "ICD10:E23.0", "MONDO:0016553", "UMLS:CN924907"; "isolated congenital hypogonadotropic hypogonadism", "nonsyndromic congenital hypogonadotropic hypogonadism"; "Orphanet:238666"; ; rdfs:label "Isolated congenital hypogonadotropic hypogonadism", "Isolated congenital hypogonadotropic hypogonadism"@en; "ORPHA:238666" . _:bc66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:bc67d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16806; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16806 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Attributed"@en . _:bc68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:bc6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "MONDO:relatedTo", "ORDO:238666/attributed", "ORDO:238666/ntbt", "Orphanet:238666" . _:bc70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN924907"; "MONDO:equivalentTo" . _:bc71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated congenital hypogonadotropic hypogonadism"; rdfs:comment "preferred label from MONDO" . _:bc72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic congenital hypogonadotropic hypogonadism"; "MONDO:patterns/isolated" . _:bc73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:238666" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0016565", "UMLS:CN226963"; "syndrome associated with obesity (disease)", "syndromic genetic obesity", "syndromic obesity (disease)"; "syndrome associated with obesity (disease)"; "Orphanet:240371"; ; rdfs:label "Syndromic obesity", "Syndromic obesity"@en; "ORPHA:240371" . _:bc74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226963"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:bc76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with obesity (disease)"; "MONDO:patterns/syndromic" . _:bc78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic genetic obesity"; rdfs:comment "preferred label from MONDO" . _:bc7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic obesity (disease)"; "MONDO:patterns/syndromic" . _:bc7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with obesity (disease)"; "MONDO:patterns/syndromic" . _:bc7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:240371" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation."; , , , , , , ; "Pulmonary lymphangiomatosis"@en; "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation."@en; "orphanet"@en; "GARD:0009900", "ICD-10:Q33.8", "ICD10:Q33.8", "MESH:C537727", "MONDO:0009933", "MSH:C537727", "MeSH:C537727", "NCIT:C99034", "OMIM:265300", "SCTID:45142002", "UMLS:C0265800", "UMLS:C1849554"; "Pulmonary lymphangiomatosis", "congenital pulmonary lymphangiectasia", "congenital pulmonary lymphangiectasis", "pulmonary lymphangiomatosis"; "CPL", "lymphangiectasia pulmonary congenital", "lymphangiectasia, pulmonary, congenital", "lymphangiectasia, pulmonary, congenital; CPL", "lymphangiomatosis pulmonary", "lymphangiomatosis, pulmonary", "pulmonary cystic lymphangiectasis"; "Orphanet:2414"; , ; rdfs:label "Congenital pulmonary lymphangiectasia", "Congenital pulmonary lymphangiectasia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia"^^xsd:anyURI; "ORPHA:2414" . _:bc8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation."; "Orphanet:2414" . _:bc8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009900"; "MONDO:equivalentTo" . _:bc90d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16822; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q33.8"; "Attributed"@en . _:bc92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q33.8"; "NTBT (narrower term maps to a broader term)"@en . _:bc94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q33.8"; "ORDO:2414/attributed", "ORDO:2414/ntbt", "Orphanet:2414" . _:bc97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537727"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2414/e", "Orphanet:2414" . _:bc9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537727"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bc9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99034"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:bc9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:265300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bc9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:265300"; "MONDO:equivalentTo", "ORDO:2414/e", "Orphanet:2414" . _:bc9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:45142002"; "MONDO:equivalentTo" . _:bca0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bca1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849554"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bca3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849554"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C99034", "OMIM:265300", "ORDO:2414/e", "Orphanet:2414" . _:bca7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital pulmonary lymphangiectasia"; rdfs:comment "preferred label from MONDO" . _:bca8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital pulmonary lymphangiectasis"; "NCIT:C99034" . _:bca9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary lymphangiomatosis"; "Orphanet:2414" . _:bcaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPL"; "MONDO:Lexical", "OMIM:265300" . _:bcacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiectasia pulmonary congenital"; "GARD:0009900" . _:bcadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiectasia, pulmonary, congenital"; "MONDO:Lexical", "OMIM:265300" . _:bcafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiectasia, pulmonary, congenital; CPL"; "OMIM:265300" . _:bcb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiomatosis pulmonary"; "GARD:0009900" . _:bcb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiomatosis, pulmonary"; "OMIM:265300" . _:bcb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary cystic lymphangiectasis"; "OMIM:265300" . _:bcb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009900" . _:bcb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2414" . _:bcbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia"^^xsd:anyURI; "GARD:0009900" . a owl:Class; rdfs:subClassOf , , , , , , ; "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype."; , , , , , , ; ; , ; "46,XY CGD"@en, "46,XY pure gonadal dysgenesis"@en, "Swyer syndrome"@en; "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype."@en; "orphanet", "orphanet"@en; "DOID:14448", "GARD:0005068", "ICD-10:Q99.1", "ICD10:Q97.3", "ICD10:Q99.1", "MESH:D006061", "MONDO:0010765", "NCIT:C120198", "OMIM:154230", "OMIM:233420", "OMIM:300018", "OMIM:400044", "OMIM:612965", "OMIM:613080", "OMIM:613762", "OMIM:616425", "OMIMPS:400044", "SCTID:95218005", "UMLS:C0018054", "UMLS:C2936694"; "46 XY gonadal dysgenesis", "46, XY CGD", "46, XY complete gonadal dysgenesis", "46, XY pure gonadal dysgenesis", "46,XY CGD", "46,XY SEX reversal", "46,XY complete gonadal dysgenesis", "46,XY gonadal dysgenesis", "46,XY pure gonadal dysgenesis", "Swyer syndrome", "pure gonadal dysgenesis 46,XY"; "gonadal dysgenesis, XY female type", "sex-reversing locus on X", "sex-reversing locus on X, formerly", "testis-determining Factor, X-chromosomal"; "Orphanet:242"; , ; rdfs:label "46,XY complete gonadal dysgenesis", "46,XY complete gonadal dysgenesis"@en; "ORPHA:242" . _:bcc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype."; "Orphanet:242" . _:bcc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:242" . _:bccdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14448"; "MONDO:equivalentTo" . _:bccfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005068"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:bcd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q99.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bcd3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16853; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16853 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q99.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:bcd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.1"; "ORDO:242/e", "ORDO:242/inclusion", "Orphanet:242" . _:bcd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006061"; "DOID:14448", "MONDO:equivalentTo", "MONDO:ontobio" . _:bcd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120198"; "DOID:14448", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.76/0.12" . _:bcdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154230"; "BTNT (broader term maps to a narrower term)"@en . _:bcdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233420"; "BTNT (broader term maps to a narrower term)"@en . _:bcdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300018"; "BTNT (broader term maps to a narrower term)"@en . _:bcddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:400044"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bcded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612965"; "BTNT (broader term maps to a narrower term)"@en . _:bcdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613080"; "BTNT (broader term maps to a narrower term)"@en . _:bce4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613762"; "BTNT (broader term maps to a narrower term)"@en . _:bce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616425"; "BTNT (broader term maps to a narrower term)"@en . _:bce7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616425"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bcebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:400044"; "MONDO:cjm", "MONDO:equivalentTo" . _:bcedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95218005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:bcefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018054"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bcf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018054"; "DOID:14448", "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "NCIT:C120198", "Orphanet:242" . _:bcf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936694"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bcf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936694"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "ORDO:242/e", "Orphanet:242" . _:bcf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46 XY gonadal dysgenesis"; "MONDO:0001968" . _:bcf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46, XY CGD"; "GARD:0005068" . _:bcfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46, XY complete gonadal dysgenesis"; "GARD:0005068" . _:bcfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46, XY pure gonadal dysgenesis"; "GARD:0005068" . _:bcfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY CGD"; "Orphanet:242" . _:bcffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY SEX reversal"; "DOID:14448" . _:bd00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY complete gonadal dysgenesis"; rdfs:comment "preferred label from MONDO" . _:bd01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY gonadal dysgenesis"; "NCIT:C120198" . _:bd02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY pure gonadal dysgenesis"; "Orphanet:242" . _:bd03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Swyer syndrome"; "DOID:14448", "Orphanet:242" . _:bd04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pure gonadal dysgenesis 46,XY"; "DOID:14448" . _:bd06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal dysgenesis, XY female type"; "GARD:0005068" . _:bd08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sex-reversing locus on X"; "OMIM:400044" . _:bd0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sex-reversing locus on X, formerly"; "OMIM:400044" . _:bd0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "testis-determining Factor, X-chromosomal"; "OMIM:400044" . _:bd0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:242" . a owl:Class; rdfs:subClassOf ; "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG)."@en; "orphanet"@en; "ICD-10:C85.7", "MedDRA:10037418", "UMLS:C0519063"; rdfs:label "Primary pulmonary lymphoma"@en; "ORPHA:2420" . _:bd0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C85.7"; "NTBT (narrower term maps to a broader term)"@en . _:bd11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037418"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bd12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0519063"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation."; , , , , , , ; "46,XX complete gonadal dysgenesis"@en, "46,XX ovarian dysgenesis"@en, "46,XX pure gonadal dysgenesis"@en, "FSH-RO"@en, "Follicular stimulating hormone-resistant ovaries"@en, "Hypergonadotropic ovarian dysgenesis"@en, "XX female gonadal dysgenesis"@en, "XX-GD"@en; "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation."@en; "orphanet", "orphanet"@en; "DC:0000000", "DOID:14450", "ICD-10:Q99.1", "ICD10:Q99.1", "MESH:D023961", "MONDO:0009299", "MSH:D023961", "MeSH:D023961", "NCIT:C120197", "OMIM:233300", "OMIM:300510", "OMIM:614324", "OMIM:616185", "OMIM:617690", "OMIM:618014", "OMIM:618078", "OMIM:618117", "OMIMPS:233300", "SCTID:95198001", "UMLS:C0685837", "UMLS:C0949595"; "46 XX gonadal dysgenesis", "46,XX complete gonadal dysgenesis", "46,XX gonadal dysgenesis", "46,XX ovarian dysgenesis", "46,XX pure gonadal dysgenesis", "FSH-RO", "Follicular stimulating hormone-resistant ovaries", "Hypergonadotropic ovarian dysgenesis", "XX female gonadal dysgenesis", "XX-GD", "follicular stimulating hormone-resistant ovaries", "hypergonadotropic ovarian dysgenesis"; "XX gonadal dysgenesis", "ovarian dysgenesis"; "Orphanet:243"; ; rdfs:label "46,XX gonadal dysgenesis", "46,XX gonadal dysgenesis"@en; "ORPHA:243" . _:bd16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation."; "Orphanet:243" . _:bd17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000000"; "MONDO:equivalentTo" . _:bd18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14450"; "MONDO:equivalentTo" . _:bd1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q99.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bd1bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16896; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16896 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q99.1"; "Specific code (The term has its own code in the ICD10)"@en . _:bd1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.1"; "ORDO:243/e", "ORDO:243/specific", "Orphanet:243" . _:bd1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D023961"; "DOID:14450", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:243/e", "Orphanet:243" . _:bd20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D023961"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bd21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120197"; "DOID:14450", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:bd23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bd24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300510"; "BTNT (broader term maps to a narrower term)"@en . _:bd26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614324"; "BTNT (broader term maps to a narrower term)"@en . _:bd28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616185"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bd29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617690"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bd2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618078"; "BTNT (broader term maps to a narrower term)"@en . _:bd2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618117"; "BTNT (broader term maps to a narrower term)"@en . _:bd2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:233300"; "MONDO:equivalentTo" . _:bd30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95198001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.38/0.62" . _:bd31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0685837"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bd32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0949595"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bd33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0949595"; "DOID:14450", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C120197", "OMIM:233300", "ORDO:243/e", "Orphanet:243" . _:bd34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46 XX gonadal dysgenesis"; rdfs:comment "preferred label from MONDO" . _:bd37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX complete gonadal dysgenesis"; "Orphanet:243" . _:bd39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX gonadal dysgenesis"; "NCIT:C120197" . _:bd3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX ovarian dysgenesis"; "Orphanet:243" . _:bd3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX pure gonadal dysgenesis"; "Orphanet:243" . _:bd3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FSH-RO"; "Orphanet:243" . _:bd41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XX female gonadal dysgenesis"; "Orphanet:243" . _:bd43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XX-GD"; "Orphanet:243" . _:bd46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "follicular stimulating hormone-resistant ovaries"; "Orphanet:243" . _:bd47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypergonadotropic ovarian dysgenesis"; "Orphanet:243" . _:bd4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XX gonadal dysgenesis"; "OMIM:233300" . _:bd4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian dysgenesis"; "OMIMPS:233300" . _:bd50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:243" . a owl:Class; rdfs:subClassOf , , , , , ; "Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)."; , ; , , , , , , , , , , ; "PCD"@en; "Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)."@en; "orphanet", "orphanet"@en; "DOID:0050144", "DOID:9562", "GARD:0004484", "GARD:0006815", "ICD-10:Q34.8", "ICD10:J98.0", "ICD10:Q34.8", "MESH:D002925", "MESH:D007619", "MONDO:0016575", "MedDRA:10069713", "NCIT:C84797", "OMIM:215518", "OMIM:215520", "OMIM:242670", "OMIM:242680", "OMIM:244400", "OMIM:300991", "OMIM:606763", "OMIM:608644", "OMIM:608646", "OMIM:608647", "OMIM:610852", "OMIM:611884", "OMIM:612274", "OMIM:612444", "OMIM:612518", "OMIM:612649", "OMIM:612650", "OMIM:613193", "OMIM:613807", "OMIM:613808", "OMIM:614017", "OMIM:614679", "OMIM:614874", "OMIM:614935", "OMIM:615067", "OMIM:615294", "OMIM:615444", "OMIM:615451", "OMIM:615481", "OMIM:615482", "OMIM:615500", "OMIM:615504", "OMIM:615505", "OMIM:615872", "OMIM:616037", "OMIM:616369", "OMIM:616481", "OMIM:616726", "OMIM:617091", "OMIM:617092", "OMIM:617577", "OMIM:618063", "OMIMPS:244400", "SCTID:42402006", "SCTID:86204009", "UMLS:C0008780"; "Kartagener syndrome", "Kartagener's syndrome", "PCD", "ciliary motility disorder", "immotile ciliary syndrome", "primary ciliary dyskinesia"; "Dextrocardia bronchiectasis and sinusitis", "Dextrocardia-bronchiectasis-sinusitis syndrome", "ICS", "Immotile cilia syndrome, Kartagener type", "Primary ciliary dyskinesia and situs inversus", "Primary ciliary dyskinesia, Kartagener type", "Siewert syndrome", "bronchiectasis, chronic sinusitis and dextrocardia syndrome", "ciliary dyskinesia primary", "kartageners syndrome"; "Orphanet:244"; ; rdfs:comment "Editor note: we deliberately merge two MESHes here"; rdfs:label "Primary ciliary dyskinesia", "Primary ciliary dyskinesia"@en; "ORPHA:244" . _:bd72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)."; "Orphanet:244" . _:bd73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050144"; "MONDO:equivalentTo" . _:bd74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9562"; "MONDO:equivalentTo" . _:bd76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004484"; "MONDO:equivalentTo", "Orphanet-shared" . _:bd77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006815"; "MONDO:equivalentTo" . _:bd7bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid16932; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid16932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q34.8"; "Attributed"@en . _:bd7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q34.8"; "NTBT (narrower term maps to a broader term)"@en . _:bd81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q34.8"; "ORDO:244/attributed", "ORDO:244/ntbt", "Orphanet:244" . _:bd82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002925"; "DOID:9562", "MONDO:equivalentTo" . _:bd84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007619"; "DOID:0050144", "MONDO:equivalentTo" . _:bd85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069713"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bd87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069713"; "ORDO:244/e", "Orphanet:244" . _:bd88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84797"; "DOID:0050144", "MONDO:equivalentTo" . _:bd8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:215518"; "BTNT (broader term maps to a narrower term)"@en . _:bd8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:215520"; "BTNT (broader term maps to a narrower term)"@en . _:bd8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242670"; "BTNT (broader term maps to a narrower term)"@en . _:bd91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242680"; "BTNT (broader term maps to a narrower term)"@en . _:bd92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:244400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bd94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300991"; "BTNT (broader term maps to a narrower term)"@en . _:bd95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606763"; "BTNT (broader term maps to a narrower term)"@en . _:bd97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608644"; "BTNT (broader term maps to a narrower term)"@en . _:bd98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608646"; "BTNT (broader term maps to a narrower term)"@en . _:bd9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608647"; "BTNT (broader term maps to a narrower term)"@en . _:bd9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610852"; "BTNT (broader term maps to a narrower term)"@en . _:bd9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611884"; "BTNT (broader term maps to a narrower term)"@en . _:bd9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612274"; "BTNT (broader term maps to a narrower term)"@en . _:bda0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612444"; "BTNT (broader term maps to a narrower term)"@en . _:bda1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612518"; "BTNT (broader term maps to a narrower term)"@en . _:bda2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612649"; "BTNT (broader term maps to a narrower term)"@en . _:bda3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612650"; "BTNT (broader term maps to a narrower term)"@en . _:bda4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613193"; "BTNT (broader term maps to a narrower term)"@en . _:bda5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613807"; "BTNT (broader term maps to a narrower term)"@en . _:bda6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613808"; "BTNT (broader term maps to a narrower term)"@en . _:bda7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614017"; "BTNT (broader term maps to a narrower term)"@en . _:bda8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614679"; "BTNT (broader term maps to a narrower term)"@en . _:bda9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614874"; "BTNT (broader term maps to a narrower term)"@en . _:bdaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614935"; "BTNT (broader term maps to a narrower term)"@en . _:bdabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615067"; "BTNT (broader term maps to a narrower term)"@en . _:bdacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615294"; "BTNT (broader term maps to a narrower term)"@en . _:bdadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615444"; "BTNT (broader term maps to a narrower term)"@en . _:bdb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615451"; "BTNT (broader term maps to a narrower term)"@en . _:bdb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615481"; "BTNT (broader term maps to a narrower term)"@en . _:bdb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615482"; "BTNT (broader term maps to a narrower term)"@en . _:bdb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615500"; "BTNT (broader term maps to a narrower term)"@en . _:bdb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615504"; "BTNT (broader term maps to a narrower term)"@en . _:bdb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615505"; "BTNT (broader term maps to a narrower term)"@en . _:bdbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615872"; "BTNT (broader term maps to a narrower term)"@en . _:bdbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615872"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bdbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616037"; "BTNT (broader term maps to a narrower term)"@en . _:bdbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616037"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bdbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616369"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bdc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616481"; "BTNT (broader term maps to a narrower term)"@en . _:bdc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616481"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bdc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616726"; "BTNT (broader term maps to a narrower term)"@en . _:bdc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616726"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bdcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617091"; "BTNT (broader term maps to a narrower term)"@en . _:bdced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617091"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bdcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617092"; "BTNT (broader term maps to a narrower term)"@en . _:bdd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617092"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bdd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617577"; "BTNT (broader term maps to a narrower term)"@en . _:bdd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617577"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bdd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618063"; "BTNT (broader term maps to a narrower term)"@en . _:bdd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:244400"; "DOID:9562", "MONDO:equivalentTo" . _:bddad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42402006"; "DOID:0050144", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.15" . _:bdddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:86204009"; "DOID:0050144", "DOID:9562", "MONDO:equivalentTo" . _:bde2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008780"; "DOID:9562", "MONDO:equivalentTo" . _:bde4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kartagener syndrome"; "MONDO:0000260" . _:bde5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kartagener's syndrome"; "DOID:0050144" . _:bde7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCD"; "Orphanet:244" . _:bde9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ciliary motility disorder"; "DOID:9562" . _:bdead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immotile ciliary syndrome"; "DOID:9562" . _:bdebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary ciliary dyskinesia"; rdfs:comment "preferred label from MONDO" . _:bdecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dextrocardia bronchiectasis and sinusitis"; "GARD:0006815" . _:bdedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dextrocardia-bronchiectasis-sinusitis syndrome"; "GARD:0006815" . _:bdeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICS"; "GARD:0004484" . _:bdefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Immotile cilia syndrome, Kartagener type"; "GARD:0006815" . _:bdf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary ciliary dyskinesia and situs inversus"; "GARD:0006815" . _:bdf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary ciliary dyskinesia, Kartagener type"; "GARD:0006815" . _:bdf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Siewert syndrome"; "GARD:0006815", "MONDO:cjm" . _:bdf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bronchiectasis, chronic sinusitis and dextrocardia syndrome"; "MONDO:cjm" . _:bdf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ciliary dyskinesia primary"; "GARD:0004484" . _:bdf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kartageners syndrome"; "MONDO:cjm" . _:bdf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:244" . a owl:Class; rdfs:subClassOf , ; "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported."; , , , , ; "Ectrodactyly"@en, "SHFM"@en, "Split hand foot malformation"@en; "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported."@en; "orphanet"@en; "DOID:0090020", "GARD:0006319", "ICD-10:Q71.6", "ICD-10:Q72.7", "ICD10:Q71.6", "ICD10:Q72.7", "MONDO:0016576", "NCIT:C75000", "OMIM:183600", "OMIM:225300", "OMIM:246560", "OMIM:313350", "OMIM:605289", "OMIM:606708", "OMIMPS:183600", "SCTID:81208006", "UMLS:C0265554"; "Ectrodactyly", "FEWER digits", "Lobster-claw deformity", "SHFM", "Split hand foot malformation", "ectrodactyly", "lobster-claw deformity", "split hand foot malformation", "split hand-foot malformation", "split-hand deformity", "split-hand/foot malformation"; "isolated split hand-split foot malformation", "split hand-split foot malformation"; "Orphanet:2440"; ; rdfs:label "Isolated split hand-split foot malformation"@en, "Split hand-split foot malformation"; "ORPHA:2440" . _:be01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported."; "Orphanet:2440" . _:be03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090020"; "MONDO:equivalentTo" . _:be05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006319"; "MONDO:equivalentTo", "Orphanet-shared" . _:be06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.6"; "BTNT (broader term maps to a narrower term)"@en . _:be07d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17015; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17015 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.6"; "Specific code (The term has its own code in the ICD10)"@en . _:be0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.7"; "BTNT (broader term maps to a narrower term)"@en . _:be0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.7"; "Specific code (The term has its own code in the ICD10)"@en . _:be0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.6"; "DOID:0090020", "ORDO:2440/btnt", "ORDO:2440/specific", "Orphanet:2440" . _:be12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.7"; "ORDO:2440/btnt", "ORDO:2440/specific", "Orphanet:2440" . _:be13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.67/1.27" . _:be16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:183600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:be18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:225300"; "BTNT (broader term maps to a narrower term)"@en . _:be19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:246560"; "BTNT (broader term maps to a narrower term)"@en . _:be1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:313350"; "BTNT (broader term maps to a narrower term)"@en . _:be1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605289"; "BTNT (broader term maps to a narrower term)"@en . _:be21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606708"; "BTNT (broader term maps to a narrower term)"@en . _:be22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:183600"; "DC:0000416", "DOID:0090020", "MONDO:equivalentTo" . _:be26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:81208006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.66/0.97" . _:be27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265554"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:be28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265554"; "DOID:0090020", "MONDO:equivalentTo", "NCIT:C75000", "ORDO:2440/e", "Orphanet:2440" . _:be29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FEWER digits"; "NCIT:C75000" . _:be2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHFM"; "Orphanet:2440" . _:be2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly"; "Orphanet:2440" . _:be2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lobster-claw deformity"; "DOID:0090020", "Orphanet:2440" . _:be30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split hand foot malformation"; "Orphanet:2440" . _:be32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split hand-foot malformation"; rdfs:comment "preferred label from MONDO" . _:be33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split-hand deformity"; "DOID:0090020" . _:be34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split-hand/foot malformation"; "NCIT:C75000" . _:be36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated split hand-split foot malformation"; "Orphanet:2440" . _:be38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split hand-split foot malformation"; "Orphanet:2440" . _:be3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2440" . a owl:Class; rdfs:subClassOf , , , ; "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)."; , , , , , ; "Duncan disease"@en, "Purtilo syndrome"@en, "XLP"@en; "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)."@en; "orphanet", "orphanet"@en; "DOID:0060705", "GARD:0007906", "ICD-10:D82.3", "ICD10:D82.3", "ICD9:238.79", "MONDO:0010627", "MSH:D008232", "MeSH:D008232", "MedDRA:10068348", "NCIT:C61246", "OMIM:300635", "OMIM:308240", "SCTID:77121009", "UMLS:C0549463"; "Duncan disease", "Purtilo syndrome", "X-linked lymphoproliferative syndrome", "X-linked lymphoproliferative syndrome type 1", "XLP", "XLP1", "lymphoproliferative syndrome, X-linked", "lymphoproliferative syndrome, X-linked, type 1"; "SH2D1A-related lymphoproliferative disease, X-linked", "X-linked lymphoproliferative disease", "X-linked lymphoproliferative syndrome 1", "lymphoproliferative syndrome X-linked 1", "lymphoproliferative syndrome, X-linked, 1"; "Orphanet:2442"; , , ; rdfs:comment "Editor note: two OMIMPS"; rdfs:label "X-linked lymphoproliferative disease", "X-linked lymphoproliferative disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1"^^xsd:anyURI; "ORPHA:2442" . _:be43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)."; "Orphanet:2442" . _:be45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060705"; "MONDO:equivalentTo" . _:be46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007906"; "MONDO:equivalentTo" . _:be49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:be4ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17047; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17047 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.3"; "Specific code (The term has its own code in the ICD10)"@en . _:be4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D82.3"; "DOID:0060705", "ORDO:2442/e", "ORDO:2442/specific", "Orphanet:2442" . _:be4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:238.79"; "MONDO:relatedTo", "i2s" . _:be4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008232"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:be4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068348"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:be51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068348"; "ORDO:2442/e", "Orphanet:2442" . _:be53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61246"; "MONDO:equivalentTo" . _:be55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300635"; "BTNT (broader term maps to a narrower term)"@en . _:be56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308240"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:be57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:77121009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:be58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0549463"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:be5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0549463"; "MONDO:equivalentTo", "NCIT:C61246", "OMIM:308240", "ORDO:2442/e", "Orphanet:2442" . _:be5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duncan disease"; "Orphanet:2442" . _:be61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Purtilo syndrome"; "Orphanet:2442" . _:be63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked lymphoproliferative syndrome"; "NCIT:C61246" . _:be65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked lymphoproliferative syndrome"; rdfs:comment "preferred label from MONDO" . _:be67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked lymphoproliferative syndrome type 1"; "DOID:0060705", "MONDORULE:1" . _:be68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XLP"; "Orphanet:2442" . _:be69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XLP1"; "DOID:0060705" . _:be6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoproliferative syndrome, X-linked"; "MONDO:patterns/x_linked" . _:be6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoproliferative syndrome, X-linked, type 1"; "MONDORULE:1", "OMIM:308240" . _:be6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SH2D1A-related lymphoproliferative disease, X-linked"; "GARD:0007906" . _:be6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked lymphoproliferative disease"; "Orphanet:2442" . _:be6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked lymphoproliferative syndrome 1"; "DOID:0060705" . _:be71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoproliferative syndrome X-linked 1"; "GARD:0007906" . _:be73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoproliferative syndrome, X-linked, 1"; "GARD:0007906", "MONDO:Lexical", "OMIM:308240" . _:be75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2442" . _:be76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1"^^xsd:anyURI; "GARD:0007906" . a owl:Class; rdfs:subClassOf ; "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)."; , ; "orphanet"; "MONDO:0016578", "UMLS:CN201731"; "Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies", "OXPHOS disease due to nDNA anomalies", "OXPHOS disease due to nuclear DNA anomalies", "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies", "mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies"; "Orphanet:2443"; ; rdfs:label "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" . _:be7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)."; "Orphanet:2443" . _:be7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN201731"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:be7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXPHOS disease due to nDNA anomalies"; "Orphanet:2443" . _:be81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXPHOS disease due to nuclear DNA anomalies"; "Orphanet:2443" . _:be82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies"; "Orphanet:2443" . _:be83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies"; rdfs:comment "preferred label from MONDO" . _:be84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2443" . a owl:Class; rdfs:subClassOf , , , ; , ; "Dominant hypophosphatemia with nephrolithiasis or osteoporosis is a rare, genetic, renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels."@en; "orphanet"@en; "MONDO:0016579", "OMIM:612286", "OMIM:612287", "UMLS:CN228623"; "dominant hypophosphatemia with nephrolithiasis or osteoporosis"; "Orphanet:244305"; ; rdfs:label "Dominant hypophosphatemia with nephrolithiasis or osteoporosis", "Dominant hypophosphatemia with nephrolithiasis or osteoporosis"@en; "ORPHA:244305" . _:be85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612286"; "BTNT (broader term maps to a narrower term)"@en . _:be86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612287"; "BTNT (broader term maps to a narrower term)"@en . _:be87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN228623"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:be89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dominant hypophosphatemia with nephrolithiasis or osteoporosis"; rdfs:comment "preferred label from MONDO" . _:bea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:244305" . a owl:Class; rdfs:subClassOf ; "CCAM"@en, "CPAM"@en, "Congenital cystic adenomatoid malformation of the lung"@en, "Congenital cystic adenomatous malformation of the lung"@en, "Congenital cystic disease of the lung"@en; "ICD-10:Q33.0", "UMLS:C0010668", "UMLS:C0158641"; rdfs:label "Congenital pulmonary airway malformation"@en; "ORPHA:2444" . _:beb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q33.0"; "NTBT (narrower term maps to a broader term)"@en . _:beb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010668"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:beb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0158641"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA) (see these terms), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome (see this term). A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)."; ; , , , ; "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA) (see these terms), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome (see this term). A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)."@en; "orphanet"@en; "true"; "GARD:0008189", "ICD9:747.11", "MONDO:0016581", "OMIM:217095", "SCTID:218728005", "UMLS:C1857586"; "Taussig-Bing syndrome or defect", "conotruncal heart malformations"; "CTHM", "Double-outlet right ventricle", "conotruncal anomaly face syndrome", "conotruncal cardiac defects", "conotruncal heart malformations; CTHM", "interrupted aortic Arch", "persistent truncus arteriosus", "truncus arteriosus communis"; "Orphanet:2445"; ; rdfs:label "Conotruncal heart malformations", "Conotruncal heart malformations"@en; "ORPHA:2445" . _:beb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA) (see these terms), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome (see this term). A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)."; "Orphanet:2445" . _:bebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008189"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:bebdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:747.11"; "MONDO:equivalentTo", "i2s" . _:bebfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:217095"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bec1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:217095"; "MONDO:equivalentTo", "ORDO:2445/e", "Orphanet:2445" . _:bec2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:218728005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.44/0.08" . _:bec4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1857586"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bec6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1857586"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:217095", "ORDO:2445/e", "Orphanet:2445" . _:bec7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Taussig-Bing syndrome or defect"; "DOID:6406", "MTHICD9_2006:745.11" . _:bec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conotruncal heart malformations"; "MONDO:Lexical", "OMIM:217095" . _:becbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conotruncal heart malformations"; rdfs:comment "preferred label from MONDO" . _:becdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CTHM"; "MONDO:Lexical", "OMIM:217095" . _:beced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Double-outlet right ventricle"; "OMIM:217095" . _:bed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conotruncal anomaly face syndrome"; "OMIM:217095" . _:bed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conotruncal cardiac defects"; "GARD:0008189" . _:bed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conotruncal heart malformations; CTHM"; "OMIM:217095" . _:bed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "interrupted aortic Arch"; "OMIM:217095" . _:bed5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent truncus arteriosus"; "OMIM:217095" . _:bed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "truncus arteriosus communis"; "OMIM:217095" . _:bed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2445" . a owl:Class; rdfs:subClassOf ; "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement."@en; "orphanet"@en; "ICD-10:C96.2", "MeSH:D034721", "MedDRA:10042949", "UMLS:C0221013"; rdfs:label "Systemic mastocytosis"@en; "ORPHA:2467" . _:bedad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.2"; "NTBT (narrower term maps to a broader term)"@en . _:bedbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D034721"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bedcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10042949"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:beddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221013"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.", "Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes."; ; , , , , , , , , ; "ARVC"@en, "ARVD"@en, "Arrhythmogenic right ventricular dysplasia"@en; "A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death."@en; "orphanet", "orphanet"@en; "DOID:0050431", "GARD:0005847", "ICD-10:I42.8", "ICD10:I42.8", "ICD9:425.4", "MESH:D019571", "MONDO:0016587", "MSH:D019571", "MeSH:D019571", "MedDRA:10058093", "NCIT:C84571", "OMIM:600996", "OMIM:604400", "OMIM:607450", "OMIM:609040", "OMIM:610193", "OMIM:610476", "OMIM:611528", "OMIM:615616", "OMIMPS:107970", "SCTID:281170005", "UMLS:C0349788", "UMLS:CN221565", "UMLS:CN239850"; "ARVC", "ARVC cardiomyopathy", "ARVD", "Arrhythmogenic right ventricular cardiomyopathy", "arrhythmogenic RVD", "arrhythmogenic right ventricular cardiomyopathy", "arrhythmogenic right ventricular dysplasia", "arrhythmogenic right ventricular dysplasia/cardiomyopathy", "right ventricular dysplasia"; "Orphanet:247"; , , ; rdfs:label "Arrhythmogenic right ventricular cardiomyopathy"@en, "Arrhythmogenic right ventricular dysplasia"; "ORPHA:247" . _:bee2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death."; "Orphanet:247" . _:bee4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050431"; "MONDO:equivalentTo" . _:bee6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005847"; "MONDO:equivalentTo" . _:bee8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17118; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17118 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I42.8"; "Index term"@en . _:beead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I42.8"; "NTBT (narrower term maps to a broader term)"@en . _:beecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.8"; "ORDO:247/index", "ORDO:247/ntbt", "Orphanet:247" . _:beeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:425.4"; "MONDO:relatedTo", "i2s" . _:bef1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019571"; "DOID:0050431", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:247/e", "Orphanet:247" . _:bef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D019571"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bef4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058093"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058093"; "ORDO:247/e", "Orphanet:247" . _:bef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84571"; "DOID:0050431", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:bef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:107970"; "DOID:0050431", "MONDO:equivalentTo" . _:befad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:281170005"; "DOID:0050431", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.08" . _:befcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0349788"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:befdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0349788"; "DOID:0050431", "GARD:0005847", "MONDO:equivalentTo", "NCIT:C84571", "ORDO:247/e", "Orphanet:247" . _:bf00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN221565"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:bf02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239850"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:bf04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARVC"; "DOID:0050431", "Orphanet:247" . _:bf05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARVC cardiomyopathy"; "DOID:0050431" . _:bf06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARVD"; "DOID:0050431", "GARD:0005847", "Orphanet:247" . _:bf09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic RVD"; "NCIT:C84571" . _:bf0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic right ventricular cardiomyopathy"; "GARD:0005847" . _:bf0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic right ventricular cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:bf0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic right ventricular dysplasia"; "DOID:0050431", "Orphanet:247" . _:bf0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic right ventricular dysplasia/cardiomyopathy"; "DOID:0050431" . _:bf15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "right ventricular dysplasia"; "NCIT:C84571" . _:bf16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:247" . a owl:Class; rdfs:subClassOf ; "Idiopathic late-onset cerebellar ataxia"@en, "SAOA"@en; "Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported."@en; "orphanet"@en; rdfs:label "Sporadic adult-onset ataxia of unknown etiology"@en; "ORPHA:247234" . a owl:Class; rdfs:subClassOf , , , ; "Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.", "Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis."; , , ; "GPP"@en; "Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis."@en; "orphanet", "orphanet"@en; "GARD:0012819", "ICD-10:L40.1", "ICD10:L40.1", "ICD9:696.1", "MONDO:0016597", "OMIM:614204", "OMIM:616106", "SCTID:238612002", "UMLS:C0343055"; "GPP", "generalized pustular psoriasis"; "Orphanet:247353"; ; rdfs:label "Generalized pustular psoriasis", "Generalized pustular psoriasis"@en; "ORPHA:247353" . _:bf1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis."; "Orphanet:247353" . _:bf1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012819"; "MONDO:equivalentTo" . _:bf1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L40.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bf1fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17147; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17147 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L40.1"; "Specific code (The term has its own code in the ICD10)"@en . _:bf23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L40.1"; "ORDO:247353/e", "ORDO:247353/specific", "Orphanet:247353" . _:bf25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:696.1"; "MONDO:relatedTo", "i2s" . _:bf26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614204"; "NTBT (narrower term maps to a broader term)"@en . _:bf28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616106"; "BTNT (broader term maps to a narrower term)"@en . _:bf2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616106"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:bf2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238612002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.75/0.24" . _:bf2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0343055"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bf30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GPP"; "Orphanet:247353" . _:bf32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalized pustular psoriasis"; rdfs:comment "preferred label from MONDO" . _:bf35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:247353" . a owl:Class; rdfs:subClassOf , ; "Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term).", "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I, see this term)."; ; , , , , ; "ASS deficiency"@en, "Argininosuccinate synthase deficiency"@en, "Argininosuccinate synthetase deficiency"@en, "Argininosuccinic acid synthase deficiency"@en, "Argininosuccinic acid synthetase deficiency"@en, "CTLN1"@en, "Citrullinemia type 1"@en, "Classic citrullinemia"@en; "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term)."@en; "orphanet", "orphanet"@en; "GARD:0006114", "ICD-10:E72.2", "ICD10:E72.2", "MONDO:0008988", "MedDRA:10058298", "NCIT:C150601", "OMIM:215700", "SCTID:398680004", "UMLS:C0751751"; "ASS deficiency", "Argininosuccinate synthase deficiency", "Argininosuccinate synthetase deficiency", "Argininosuccinic acid synthase deficiency", "Argininosuccinic acid synthetase deficiency", "CTLN1", "Citrullinemia type 1", "Classic citrullinemia", "argininosuccinate synthase deficiency", "argininosuccinate synthetase deficiency", "argininosuccinic acid synthase deficiency", "argininosuccinic acid synthetase deficiency", "ass deficiency", "citrullinemia type 1", "citrullinemia type I", "classic citrullinemia"; "CTNL1", "Citrullinuria", "citrullinemia 1", "citrullinemia, classic", "citrullinemia, type 1"; "Orphanet:247525"; ; rdfs:label "Citrullinemia type I", "Citrullinemia type I"@en; "ORPHA:247525" . _:bf43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I, see this term)."; "Orphanet:247525" . _:bf44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006114"; "MONDO:equivalentTo", "OMIM-shared" . _:bf45d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17161; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17161 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "Attributed"@en . _:bf47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "NTBT (narrower term maps to a broader term)"@en . _:bf49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.2"; "ORDO:247525/attributed", "ORDO:247525/ntbt", "Orphanet:247525" . _:bf4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058298"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bf4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058298"; "ORDO:247525/e", "Orphanet:247525" . _:bf4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C150601"; "MONDO:equivalentTo" . _:bf50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:215700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bf53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:215700"; "MONDO:equivalentTo", "ORDO:247525/e", "Orphanet:247525" . _:bf57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:398680004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.70/0.38/0.07" . _:bf59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751751"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bf5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CTLN1"; "Orphanet:247525" . _:bf5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinate synthase deficiency"; "Orphanet:247525" . _:bf5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinate synthetase deficiency"; "OMIM:215700", "Orphanet:247525" . _:bf5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinic acid synthase deficiency"; "Orphanet:247525" . _:bf5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininosuccinic acid synthetase deficiency"; "Orphanet:247525" . _:bf60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ass deficiency"; "Orphanet:247525" . _:bf61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "citrullinemia type 1"; "Orphanet:247525" . _:bf6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "citrullinemia type I"; rdfs:comment "preferred label from MONDO" . _:bf6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic citrullinemia"; "Orphanet:247525" . _:bf6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CTNL1"; "GARD:0006114" . _:bf70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Citrullinuria"; "OMIM:215700" . _:bf71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "citrullinemia 1"; "GARD:0006114" . _:bf75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "citrullinemia, classic"; "OMIM:215700" . _:bf77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "citrullinemia, type 1"; "OMIM:215700" . _:bf7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:247525" . a owl:Class; rdfs:subClassOf ; "Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells).", "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells."; , , , , , , ; "MEN2A"@en, "PTC syndrome"@en, "Sipple syndrome"@en; "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells."@en; "orphanet", "orphanet"@en; "DOID:0050430", "GARD:0004881", "ICD-10:D44.8", "ICD10:D44.8", "ICD10:E31.22", "ICD9:258.02", "MESH:D018813", "MONDO:0008234", "MSH:D018813", "MeSH:D018813", "NCIT:C3226", "OMIM:171400", "SCTID:721188000", "UMLS:C0025268"; "MEA type 2a", "MEA type II", "MEN2A", "PTC syndrome", "Sipple syndrome", "men 2A", "men type 2a", "men type II", "multiple endocrine adenomatosis type 2A", "multiple endocrine adenomatosis type 2a", "multiple endocrine adenomatosis type II", "multiple endocrine adenomatosis, type II", "multiple endocrine neoplasia II", "multiple endocrine neoplasia type 2A", "multiple endocrine neoplasia type II", "multiple endocrine neoplasia, type II", "ptc syndrome"; "MEN2A", "men-2A syndrome", "multiple endocrine neoplasia, type 2A", "multiple endocrine neoplasia, type IIA", "multiple endocrine neoplasia, type IIA; MEN2A", "pheochromocytoma and amyloid producing medullary thyroid carcinoma", "pheochromocytoma and amyloid-producing medullary Thyroid carcinoma", "thyroid carcinoma, familial medullary"; "Orphanet:247698"; , ; rdfs:label "Multiple endocrine neoplasia type 2A", "Multiple endocrine neoplasia type 2A"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a"^^xsd:anyURI; "ORPHA:247698" . _:bf80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells."; "Orphanet:247698" . _:bf85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050430"; "MONDO:equivalentTo" . _:bf87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004881"; "MONDO:equivalentTo" . _:bf89d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17190; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17190 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Attributed"@en . _:bf8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "NTBT (narrower term maps to a broader term)"@en . _:bf8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:subClassOf", "ORDO:247698/attributed", "ORDO:247698/ntbt", "Orphanet:247698" . _:bf8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.22"; "DOID:0050430" . _:bf8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:258.02"; "DOID:0050430", "MONDO:subClassOf" . _:bf8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018813"; "DOID:0050430", "MONDO:equivalentTo", "ORDO:247698/e", "Orphanet:247698" . _:bf8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018813"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bf90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3226"; "DOID:0050430", "MONDO:equivalentTo" . _:bf91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:171400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bf94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:171400"; "DOID:0050430", "MONDO:equivalentTo", "ORDO:247698/e", "Orphanet:247698" . _:bf96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721188000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.18" . _:bf97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025268"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bf99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025268"; "DOID:0050430", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3226", "OMIM:171400", "ORDO:247698/e", "Orphanet:247698" . _:bf9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEA type 2a"; "NCIT:C3226" . _:bfa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEA type II"; "NCIT:C3226" . _:bfa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN2A"; "DOID:0050430", "Orphanet:247698" . _:bfa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sipple syndrome"; "DOID:0050430", "OMIM:171400", "Orphanet:247698" . _:bfa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men 2A"; "NCIT:C3226" . _:bfa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men type 2a"; "NCIT:C3226" . _:bfa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men type II"; "NCIT:C3226" . _:bfa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis type 2A"; "NCIT:C3226" . _:bfa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis type 2a"; "NCIT:C3226" . _:bfabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis type II"; "NCIT:C3226" . _:bfadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis, type II"; "NCIT:C3226" . _:bfaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia II"; "DOID:0050430" . _:bfb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 2A"; "NCIT:C3226" . _:bfb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 2A"; rdfs:comment "preferred label from MONDO" . _:bfc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type II"; "NCIT:C3226" . _:bfccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type II"; "NCIT:C3226" . _:bfced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ptc syndrome"; "OMIM:171400", "Orphanet:247698" . _:bfcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN2A"; "MONDO:Lexical", "OMIM:171400" . _:bfd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men-2A syndrome"; "GARD:0004881" . _:bfd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type 2A"; "OMIM:171400" . _:bfd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type IIA"; "MONDO:Lexical", "OMIM:171400" . _:bfd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type IIA; MEN2A"; "OMIM:171400" . _:bfd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pheochromocytoma and amyloid producing medullary thyroid carcinoma"; "GARD:0004881" . _:bfd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pheochromocytoma and amyloid-producing medullary Thyroid carcinoma"; "OMIM:171400" . _:bfd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid carcinoma, familial medullary"; "OMIM:171400" . _:bfd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004881" . _:bfd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:247698" . _:bfdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a"^^xsd:anyURI; "GARD:0004881" . a owl:Class; rdfs:subClassOf , , , , , , ; "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus.", "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus."; , , , , , , , ; "MEN2B"@en, "Multiple endocrine neoplasia type 3"@en, "Wagenmann-Froboese syndrome"@en; "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus."@en; "orphanet", "orphanet"@en; "DOID:10016", "GARD:0010225", "ICD-10:D44.8", "ICD10:D44.8", "ICD10:E31.23", "ICD9:237.4", "ICD9:258.03", "MESH:D018814", "MONDO:0008082", "MSH:D018814", "MeSH:D018814", "MedDRA:10056420", "NCIT:C3227", "OMIM:162300", "SCTID:61530001", "UMLS:C0025269"; "MEN2B", "Multiple endocrine neoplasia type 3", "Wagenmann-Froboese syndrome", "men 2B", "men IIB", "men type 2B", "men type IIB", "mucosal neuroma syndrome", "multiple endocrine adenomatosis type IIB", "multiple endocrine neoplasia type 2B", "multiple endocrine neoplasia type 3", "multiple endocrine neoplasia type IIB", "multiple endocrine neoplasia type III", "multiple endocrine neoplasia, type 3", "multiple endocrine neoplasia, type III"; "MEN2B", "Neuromata, mucosal, with endocrine tumors", "mucosal Neuroma syndrome", "multiple endocrine neoplasia, type 2B", "multiple endocrine neoplasia, type 3 (formerly)", "multiple endocrine neoplasia, type IIB", "multiple endocrine neoplasia, type IIB; MEN2B", "multiple endocrine neoplasia, type III, formerly"; "Orphanet:247709"; , ; rdfs:label "Multiple endocrine neoplasia type 2B", "Multiple endocrine neoplasia type 2B"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b"^^xsd:anyURI; "ORPHA:247709" . _:bfe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus."; "Orphanet:247709" . _:bfead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10016"; "MONDO:equivalentTo" . _:bfebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010225"; "MONDO:equivalentTo" . _:bfedd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17235; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17235 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Attributed"@en . _:bff0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "NTBT (narrower term maps to a broader term)"@en . _:bff2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:subClassOf", "ORDO:247709/attributed", "ORDO:247709/ntbt", "Orphanet:247709" . _:bff6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.23"; "DOID:10016" . _:bff7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.4"; "MONDO:relatedTo", "i2s" . _:bff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:258.03"; "DOID:10016", "MONDO:equivalentTo", "i2s" . _:bff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018814"; "DOID:10016", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:247709/e", "Orphanet:247709" . _:bffbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018814"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bffdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056420"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:bfffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056420"; "ORDO:247709/e", "Orphanet:247709" . _:c001d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3227"; "DOID:10016", "MONDO:equivalentTo", "exact-label-match" . _:c004d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c006d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162300"; "DOID:10016", "MONDO:equivalentTo", "ORDO:247709/e", "Orphanet:247709" . _:c008d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:61530001"; "DOID:10016", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:c00ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025269"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c00fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025269"; "DOID:10016", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3227", "OMIM:162300", "ORDO:247709/e", "Orphanet:247709" . _:c012d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN2B"; "DOID:10016", "Orphanet:247709" . _:c014d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wagenmann-Froboese syndrome"; "DOID:10016", "OMIM:162300", "Orphanet:247709" . _:c017d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men 2B"; "NCIT:C3227" . _:c019d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men IIB"; "NCIT:C3227" . _:c01ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men type 2B"; "NCIT:C3227" . _:c01bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men type IIB"; "DOID:10016", "NCIT:C3227" . _:c01cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucosal neuroma syndrome"; "CSP2005:2009-6300", "DOID:10016" . _:c01dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis type IIB"; "NCIT:C3227" . _:c01ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 2B"; "DOID:10016", "NCIT:C3227" . _:c01fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 2B"; rdfs:comment "preferred label from MONDO" . _:c020d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 3"; "Orphanet:247709" . _:c022d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type IIB"; "NCIT:C3227" . _:c024d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type III"; "NCIT:C3227" . _:c028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type 3"; "DOID:10016" . _:c029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type III"; "NCIT:C3227", "OMIM:162300" . _:c02ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN2B"; "MONDO:Lexical", "OMIM:162300" . _:c02bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neuromata, mucosal, with endocrine tumors"; "OMIM:162300" . _:c02cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucosal Neuroma syndrome"; "OMIM:162300" . _:c02dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type 2B"; "OMIM:162300" . _:c02fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type 3 (formerly)"; "GARD:0010225" . _:c032d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type IIB"; "MONDO:Lexical", "OMIM:162300" . _:c034d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type IIB; MEN2B"; "OMIM:162300" . _:c035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type III, formerly"; "OMIM:162300" . _:c037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010225" . _:c039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:247709" . _:c03ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b"^^xsd:anyURI; "GARD:0010225" . a owl:Class; rdfs:subClassOf , , , ; "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur."; , , , , ; "MUTYH-related AFAP"@en, "MUTYH-related attenuated FAP"@en, "MUTYH-related attenuated familial polyposis coli"@en; "GARD:0010805", "ICD-10:D12.6", "ICD10:D12.6", "MESH:C563924", "MONDO:0012041", "NCIT:C96520", "OMIM:608456", "UMLS:C1837991"; "MAP", "MUTYH-associated polyposis", "MUTYH-related AFAP", "MUTYH-related attenuated FAP", "MUTYH-related attenuated familial adenomatous polyposis", "MUTYH-related attenuated familial polyposis coli", "familial adenomatous polyposis, type 2"; "FAP2", "MAP syndrome", "MYH-associated polyposis", "adenomas, multiple colorectal, autosomal recessive", "autosomal recessive familial adenomatous polyposis", "autosomal recessive multiple colorectal adenomas", "colorectal adenomatous polyposis, autosomal recessive", "familial adenomatous polyposis 2", "familial adenomatous polyposis 2; FAP2", "familial adenomatous polyposis, 2", "familial adenomatous polyposis, 2; FAP2"; "Orphanet:247798"; , , ; rdfs:label "MUTYH-related attenuated familial adenomatous polyposis", "MUTYH-related attenuated familial adenomatous polyposis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis"^^xsd:anyURI; "ORPHA:247798" . _:c042d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur."; "NCIT:C96520" . _:c043d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010805"; "MONDO:equivalentTo" . _:c044d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17280; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17280 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D12.6"; "Attributed"@en . _:c045d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D12.6"; "NTBT (narrower term maps to a broader term)"@en . _:c046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D12.6"; "ORDO:247798/attributed", "ORDO:247798/ntbt", "Orphanet:247798" . _:c047d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563924"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c048d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C96520"; "MONDO:equivalentTo" . _:c049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608456"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c04ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608456"; "MONDO:equivalentTo", "ORDO:247798/e", "Orphanet:247798" . _:c04cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1837991"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:608456" . _:c04ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAP"; "NCIT:C96520" . _:c051d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MUTYH-associated polyposis"; "NCIT:C96520" . _:c052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MUTYH-related AFAP"; "Orphanet:247798" . _:c053d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MUTYH-related attenuated FAP"; "Orphanet:247798" . _:c054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MUTYH-related attenuated familial adenomatous polyposis"; rdfs:comment "preferred label from MONDO" . _:c057d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MUTYH-related attenuated familial polyposis coli"; "Orphanet:247798" . _:c059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis, type 2"; "MONDORULE:1", "OMIM:608456" . _:c05cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAP2"; "MONDO:Lexical", "OMIM:608456" . _:c05ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAP syndrome"; "GARD:0010805" . _:c05fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYH-associated polyposis"; "GARD:0010805" . _:c060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenomas, multiple colorectal, autosomal recessive"; "OMIM:608456" . _:c061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive familial adenomatous polyposis"; "GARD:0010805" . _:c062d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive multiple colorectal adenomas"; "GARD:0010805" . _:c065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorectal adenomatous polyposis, autosomal recessive"; "OMIM:608456" . _:c066d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis 2"; "OMIM:608456" . _:c067d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis 2; FAP2"; "OMIM:608456" . _:c068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis, 2"; "MONDO:Lexical", "OMIM:608456" . _:c069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis, 2; FAP2"; "OMIM:608456" . _:c06ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010805" . _:c06bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:247798" . _:c06cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis"^^xsd:anyURI; "GARD:0010805" . a owl:Class; rdfs:subClassOf ; "NCM"@en, "Neurocutaneous melanosis"@en; "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death."@en; "orphanet"@en; "ICD-10:D22.3", "ICD-10:D22.4", "ICD-10:D22.5", "ICD-10:D22.6", "ICD-10:D22.7", "MeSH:C537387", "OMIM:249400", "UMLS:C0544862"; rdfs:label "Neurocutaneous melanocytosis"@en; "ORPHA:2481" . _:c06ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D22.3"; "BTNT (broader term maps to a narrower term)"@en . _:c070d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D22.4"; "BTNT (broader term maps to a narrower term)"@en . _:c072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D22.5"; "BTNT (broader term maps to a narrower term)"@en . _:c074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D22.6"; "BTNT (broader term maps to a narrower term)"@en . _:c075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D22.7"; "BTNT (broader term maps to a narrower term)"@en . _:c076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537387"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:249400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c07ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0544862"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age."; , , , ; "JHD"@en, "Juvenile Huntington chorea"@en; "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age."@en; "orphanet", "orphanet"@en; "GARD:0010510", "ICD-10:G10", "ICD10:G10", "MONDO:0016621", "NCIT:C147072", "OMIM:143100", "SCTID:230299004", "UMLS:C0751208"; "JHD", "Juvenile Huntington chorea", "juvenile Huntington chorea", "juvenile Huntington disease"; "Huntington disease, juvenile onset", "juvenile onset HD"; "Orphanet:248111"; , ; rdfs:label "Juvenile Huntington disease", "Juvenile Huntington disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease"^^xsd:anyURI; "ORPHA:248111" . _:c081d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age."; "Orphanet:248111" . _:c082d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010510"; "MONDO:equivalentTo" . _:c083d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17320; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17320 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G10"; "Attributed"@en . _:c084d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G10"; "NTBT (narrower term maps to a broader term)"@en . _:c085d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G10"; "ORDO:248111/attributed", "ORDO:248111/ntbt", "Orphanet:248111" . _:c086d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C147072"; "MONDO:equivalentTo" . _:c087d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:143100"; "NTBT (narrower term maps to a broader term)"@en . _:c088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230299004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.66" . _:c089d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751208"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751208"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:248111/e", "Orphanet:248111" . _:c092d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JHD"; "Orphanet:248111" . _:c094d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "juvenile Huntington chorea"; "Orphanet:248111" . _:c096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "juvenile Huntington disease"; rdfs:comment "preferred label from MONDO" . _:c098d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington disease, juvenile onset"; "GARD:0010510" . _:c09ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "juvenile onset HD"; "GARD:0010510" . _:c09bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010510" . _:c09dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:248111" . _:c09fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease"^^xsd:anyURI; "GARD:0010510" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0016624"; "constitutional rare deficiency anemia", "inherited deficiency anemia"; "Orphanet:248296"; ; rdfs:label "Constitutional deficiency anemia" . _:c0a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional rare deficiency anemia"; "Orphanet:248296" . _:c0a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited deficiency anemia"; rdfs:comment "preferred label from MONDO" . _:c0a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:248296" . a owl:Class; rdfs:subClassOf ; "Rare bleeding disorder"@en, "Rare coagulopathy"@en; "UMLS:C0005779", "UMLS:C0019087"; rdfs:label "Rare hemorrhagic disorder"@en; "ORPHA:248308" . _:c0aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005779"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c0abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019087"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Rare bleeding disorder due to a coagulation factors defect"@en, "Rare coagulopathy due to a coagulation factor defect"@en; rdfs:label "Rare hemorrhagic disorder due to a coagulation factors defect"@en; "ORPHA:248315" . a owl:Class; rdfs:subClassOf ; "Rare bleeding disorder due to a platelet anomaly"@en, "Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia"@en, "Rare coagulopathy due to a platelet anomaly"@en, "Rare coagulopathy due to a thrombopathy and/or thrombocytopenia"@en, "Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia"@en; rdfs:label "Rare hemorrhagic disorder due to a platelet anomaly"@en; "ORPHA:248326" . a owl:Class; rdfs:subClassOf ; "Rare bleeding disorder due to an acquired platelet anomaly"@en, "Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia"@en, "Rare coagulopathy due to an acquired platelet anomaly"@en, "Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia"@en, "Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia"@en; rdfs:label "Rare hemorrhagic disorder due to an acquired platelet anomaly"@en; "ORPHA:248347" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare thrombotic disorder due to a coagulation factors defect"@en; "ORPHA:248358" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0016633", "UMLS:CN226983"; "thrombotic disorder due to a constitutional coagulation factors defect"; "Orphanet:248361"; , ; rdfs:label "Rare thrombotic disorder due to a constitutional coagulation factors defect", "Rare thrombotic disorder due to a constitutional coagulation factors defect"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:248361" . _:c0b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226983"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:c0b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombotic disorder due to a constitutional coagulation factors defect"; rdfs:comment "preferred label from MONDO" . _:c0b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:248361" . a owl:Class; rdfs:subClassOf , ; "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities."; , ; , , , , , , , ; "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities."@en; "orphanet", "orphanet"@en; "DOID:4253", "GARD:0009474", "ICD-10:M85.8", "ICD10:M85.8", "ICD10:Q78.2", "ICD9:756.89", "MESH:D008557", "MONDO:0007970", "MSH:D008557", "MeSH:D008557", "MedDRA:10050284", "NCIT:C84887", "OMIM:155950", "SCTID:44697002", "UMLS:C0025239"; "melorheostosis"; "Mel", "melorheostosis, isolated"; "Orphanet:2485"; , ; rdfs:label "Melorheostosis", "Melorheostosis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9474/melorheostosis"^^xsd:anyURI; "ORPHA:2485" . _:c0c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities."; "Orphanet:2485" . _:c0c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4253"; "MONDO:equivalentTo" . _:c0c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009474"; "MONDO:equivalentTo" . _:c0c7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17348; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17348 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M85.8"; "Index term"@en . _:c0cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M85.8"; "NTBT (narrower term maps to a broader term)"@en . _:c0cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M85.8"; "ORDO:2485/index", "ORDO:2485/ntbt", "Orphanet:2485" . _:c0cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.89"; "MONDO:relatedTo", "i2s" . _:c0e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008557"; "DOID:4253", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2485/e", "Orphanet:2485" . _:c0e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008557"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c0e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050284"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c0ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050284"; "ORDO:2485/e", "Orphanet:2485" . _:c0ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84887"; "DOID:4253", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:c0edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155950"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c0f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155950"; "DOID:4253", "MONDO:equivalentTo", "ORDO:2485/e", "Orphanet:2485" . _:c0f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:44697002"; "DOID:4253", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:c0f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025239"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c0f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025239"; "DOID:4253", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84887", "ORDO:2485/e", "Orphanet:2485" . _:c0f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melorheostosis"; rdfs:comment "preferred label from MONDO" . _:c0f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mel"; "OMIM:155950" . _:c0fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melorheostosis, isolated"; "OMIM:155950" . _:c0fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009474" . _:c0fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2485" . _:c0ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9474/melorheostosis"^^xsd:anyURI; "GARD:0009474" . a owl:Class; rdfs:subClassOf , ; "Fibrous dysplasia of bone is a congenital non-hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis."; , , , , ; "Fibrous dysplasia of bone is a congenital non-hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis."@en; "orphanet"@en; "GARD:0006444", "ICD-10:Q78.1", "ICD10:Q78.1", "ICD9:733.29", "MESH:D005357", "MONDO:0016640", "MSH:D005357", "MeSH:D005357", "MedDRA:10016664", "OMIM:607278", "SCTID:10623005", "UMLS:C0016063"; "Osteofibrous dysplasia", "fibrous dysplasia of bone"; "Orphanet:249"; ; rdfs:label "Fibrous dysplasia of bone", "Fibrous dysplasia of bone"@en; "ORPHA:249" . _:c106d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fibrous dysplasia of bone is a congenital non-hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis."; "Orphanet:249" . _:c108d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006444"; "MONDO:equivalentTo", "Orphanet-shared" . _:c10ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c10bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17372; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.1"; "Specific code (The term has its own code in the ICD10)"@en . _:c10cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.1"; "MONDO:superClassOf", "ORDO:249/e", "ORDO:249/specific", "Orphanet:249" . _:c10dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:733.29"; "MONDO:relatedTo", "i2s" . _:c10ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005357"; "MONDO:equivalentTo", "ORDO:249/e", "Orphanet:249" . _:c10fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D005357"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c110d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016664"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c112d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016664"; "ORDO:249/e", "Orphanet:249" . _:c113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607278"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c115d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:10623005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.09" . _:c117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0016063"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c119d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fibrous dysplasia of bone"; rdfs:comment "preferred label from MONDO" . _:c11bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:249" . a owl:Class; rdfs:subClassOf , , ; "Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding."; "Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding."@en; "Orphanet", "orphanet"@en; "true"; "ICD-10:D32.9", "ICD10:D32.9", "MSH:D008579", "MeSH:D008579", "MedDRA:10027191", "NCIt:C3230", "OMIM:606190", "OMIM:607174", "UMLS:C0025286"; rdfs:label "Meningioma", "Meningioma"@en; "ORPHA:2495" . _:c120d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D32.9"; "NTBT (narrower term maps to a broader term)"@en . _:c125d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008579"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c127d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027191"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c129d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606190"; "BTNT (broader term maps to a narrower term)"@en . _:c12bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607174"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c12dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025286"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder."; , , , , , ; "GA1"@en, "GCDHD"@en, "Glutaric acidemia type 1"@en, "Glutaric aciduria type 1"@en, "Glutaryl-coenzyme A dehydrogenase deficiency"@en; "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder."@en; "orphanet", "orphanet"@en; "GARD:0006522", "ICD-10:E72.3", "ICD10:E72.3", "MESH:C536833", "MONDO:0009281", "MSH:C536833", "MeSH:C536833", "NCIT:C99101", "OMIM:231670", "SCTID:76175005", "UMLS:C0268595"; "GA1", "GCDHD", "Glutaric acidemia type 1", "Glutaric aciduria type 1", "Glutaryl-coenzyme A dehydrogenase deficiency", "glutaric acidemia type 1", "glutaric aciduria type 1", "glutaric aciduria, type 1", "glutaryl-CoA dehydrogenase deficiency", "glutaryl-coenzyme A dehydrogenase deficiency"; "Ga 1", "glutaric acidemia 1", "glutaric acidemia I", "glutaric acidemia I; GA1", "glutaric acidemia type I", "glutaric acidemia, type 1", "glutaric aciduria 1", "glutaric aciduria type I"; "Orphanet:25"; ; rdfs:label "Glutaryl-CoA dehydrogenase deficiency", "Glutaryl-CoA dehydrogenase deficiency"@en; "ORPHA:25" . _:c135d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder."; "Orphanet:25" . _:c136d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006522"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:c13ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17393; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17393 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c13cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.3"; "NTBT (narrower term maps to a broader term)"@en . _:c13dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.3"; "MONDO:relatedTo", "ORDO:25/inclusion", "ORDO:25/ntbt", "Orphanet:25" . _:c13fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536833"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:25/e", "Orphanet:25" . _:c142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536833"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99101"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:c144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:231670"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c145d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:231670"; "MONDO:equivalentTo", "ORDO:25/e", "Orphanet:25" . _:c146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:76175005"; "MONDO:equivalentTo" . _:c148d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268595"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c149d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268595"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C99101", "OMIM:231670", "ORDO:25/e", "Orphanet:25" . _:c14ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GA1"; "Orphanet:25" . _:c14bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCDHD"; "Orphanet:25" . _:c14dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric acidemia type 1"; "MONDORULE:1", "OMIM:231670", "Orphanet:25" . _:c14fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric aciduria type 1"; "Orphanet:25" . _:c151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric aciduria, type 1"; "NCIT:C99101" . _:c153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaryl-CoA dehydrogenase deficiency"; "OMIM:231670" . _:c154d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaryl-CoA dehydrogenase deficiency"; rdfs:comment "preferred label from MONDO" . _:c158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaryl-coenzyme A dehydrogenase deficiency"; "Orphanet:25" . _:c15ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ga 1"; "OMIM:231670" . _:c15cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric acidemia 1"; "GARD:0006522", "OMIM:231670" . _:c15dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric acidemia I"; "OMIM:231670" . _:c15ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric acidemia I; GA1"; "OMIM:231670" . _:c160d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric acidemia type I"; "GARD:0006522" . _:c161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutaric aciduria 1"; "OMIM:231670" . _:c162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:25" . a owl:Class; rdfs:subClassOf ; "Rare tumoral disease"@en; rdfs:label "Rare neoplastic disease"@en; "ORPHA:250908" . a owl:Class; rdfs:subClassOf , , ; "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."; , , , , ; "MCPH"@en, "Microcephalia vera"@en, "Microcephaly vera"@en, "True microcephaly"@en; "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."@en; "orphanet", "orphanet"@en; "DC:0000277", "DOID:0070296", "GARD:0012117", "ICD-10:Q02", "ICD10:Q02", "MESH:C579935", "MONDO:0016660", "OMIM:251200", "OMIM:603802", "OMIM:604317", "OMIM:604321", "OMIM:604804", "OMIM:608393", "OMIM:608716", "OMIM:612703", "OMIM:614673", "OMIM:614852", "OMIM:615414", "OMIM:616051", "OMIM:616080", "OMIM:616402", "OMIM:616486", "OMIM:616681", "OMIM:617090", "OMIM:617800", "OMIM:617914", "OMIM:617983", "OMIM:617984", "OMIM:617985", "OMIMPS:251200", "SCTID:715981004", "UMLS:C3711387"; "MCPH", "Microcephalia vera", "Microcephaly vera", "True microcephaly", "autosomal recessive primary microcephaly", "microcephalia vera", "microcephaly vera", "microcephaly, primary autosomal recessive", "microcephaly, primary, autosomal recessive", "true microcephaly"; "Orphanet:2512"; , , ; rdfs:label "Autosomal recessive primary microcephaly", "Autosomal recessive primary microcephaly"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly"^^xsd:anyURI; "ORPHA:2512" . _:c171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."; "Orphanet:2512" . _:c172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000277"; "MONDO:equivalentTo" . _:c173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070296"; "MONDO:equivalentTo" . _:c174d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012117"; "MONDO:equivalentTo" . _:c175d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17424; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17424 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q02"; "Attributed"@en . _:c176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q02"; "NTBT (narrower term maps to a broader term)"@en . _:c178d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q02"; "ORDO:2512/attributed", "ORDO:2512/ntbt", "Orphanet:2512" . _:c179d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C579935"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c17ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c17bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603802"; "BTNT (broader term maps to a narrower term)"@en . _:c17cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604317"; "BTNT (broader term maps to a narrower term)"@en . _:c182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604321"; "BTNT (broader term maps to a narrower term)"@en . _:c185d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604804"; "BTNT (broader term maps to a narrower term)"@en . _:c186d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608393"; "BTNT (broader term maps to a narrower term)"@en . _:c188d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608716"; "BTNT (broader term maps to a narrower term)"@en . _:c189d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612703"; "BTNT (broader term maps to a narrower term)"@en . _:c191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614673"; "BTNT (broader term maps to a narrower term)"@en . _:c193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614852"; "BTNT (broader term maps to a narrower term)"@en . _:c194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615414"; "BTNT (broader term maps to a narrower term)"@en . _:c195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616051"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616080"; "BTNT (broader term maps to a narrower term)"@en . _:c199d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616080"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c19ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616402"; "BTNT (broader term maps to a narrower term)"@en . _:c19cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616402"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c19dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616486"; "BTNT (broader term maps to a narrower term)"@en . _:c19fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616486"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c1a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616681"; "BTNT (broader term maps to a narrower term)"@en . _:c1a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616681"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c1a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617090"; "BTNT (broader term maps to a narrower term)"@en . _:c1a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617090"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c1a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617914"; "BTNT (broader term maps to a narrower term)"@en . _:c1a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617984"; "BTNT (broader term maps to a narrower term)"@en . _:c1a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:251200"; "DC:0000277", "MONDO:equivalentTo" . _:c1aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715981004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:c1abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3711387"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c1acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3711387"; "MONDO:equivalentTo", "Orphanet:2512" . _:c1aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCPH"; "Orphanet:2512" . _:c1b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive primary microcephaly"; rdfs:comment "preferred label from MONDO" . _:c1b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephalia vera"; "Orphanet:2512" . _:c1b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly vera"; "Orphanet:2512" . _:c1b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly, primary autosomal recessive"; "OMIMPS:251200" . _:c1b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly, primary, autosomal recessive"; "MONDO:0000061" . _:c1bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "true microcephaly"; "Orphanet:2512" . _:c1bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012117" . _:c1bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2512" . _:c1bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly"^^xsd:anyURI; "GARD:0012117" . a owl:Class; rdfs:subClassOf , , ; "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia."; , , , , ; "FH-III"@en, "FH3"@en, "Familial hyperaldosteronism type 3"@en; "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia."@en; "orphanet", "orphanet"@en; "GARD:0012362", "ICD-10:E26.0", "ICD10:E26.0", "MONDO:0013359", "OMIM:613677", "SCTID:703234002", "UMLS:C3150933", "UMLS:C3838758"; "FH-III", "FH3", "Familial hyperaldosteronism type 3", "familial hyperaldosteronism type 3", "familial hyperaldosteronism type III"; "FH 3", "FH III", "HALD3", "hyperaldosteronism, familial, type 3", "hyperaldosteronism, familial, type III", "hyperaldosteronism, familial, type III; HALD3"; "Orphanet:251274"; ; rdfs:label "Familial hyperaldosteronism type III", "Familial hyperaldosteronism type III"@en; "ORPHA:251274" . _:c1c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia."; "Orphanet:251274" . _:c1c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012362"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:c1c4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17469; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17469 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "Attributed"@en . _:c1c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "NTBT (narrower term maps to a broader term)"@en . _:c1c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.0"; "MONDO:subClassOf", "ORDO:251274/attributed", "ORDO:251274/ntbt", "Orphanet:251274" . _:c1ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613677"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c1ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613677"; "MONDO:equivalentTo", "ORDO:251274/e", "Orphanet:251274" . _:c1d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703234002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:c1d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3150933"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613677" . _:c1d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3838758"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:c1d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH-III"; "Orphanet:251274" . _:c1d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH3"; "Orphanet:251274" . _:c1d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperaldosteronism type 3"; "Orphanet:251274" . _:c1d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperaldosteronism type III"; rdfs:comment "preferred label from MONDO" . _:c1dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH 3"; "OMIM:613677" . _:c1ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH III"; "GARD:0012362" . _:c1dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HALD3"; "OMIM:613677" . _:c1e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperaldosteronism, familial, type 3"; "OMIM:613677" . _:c1e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperaldosteronism, familial, type III"; "OMIM:613677" . _:c1e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperaldosteronism, familial, type III; HALD3"; "OMIM:613677" . _:c1e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:251274" . a owl:Class; rdfs:subClassOf , , , , ; "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype."; , , ; "46,XY PGD"@en, "46,XY partial testicular dysgenesis"@en; "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype."@en; "orphanet", "orphanet"@en; "ICD-10:Q56.1", "ICD10:Q56.1", "MONDO:0016674", "OMIM:154230", "OMIM:300018", "OMIM:612965", "OMIM:613762", "OMIM:615542", "OMIM:616067", "OMIM:616425", "SCTID:725045004", "UMLS:C4510744"; "46,XY PGD", "46,XY partial gonadal dysgenesis", "46,XY partial testicular dysgenesis"; "Orphanet:251510"; ; rdfs:comment "Editor note: todo - make disjoint with complete form (some classes inherit from both)"; rdfs:label "46,XY partial gonadal dysgenesis", "46,XY partial gonadal dysgenesis"@en; "ORPHA:251510" . _:c1f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype."; "Orphanet:251510" . _:c20dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17490; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17490 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "Attributed"@en . _:c210d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "NTBT (narrower term maps to a broader term)"@en . _:c211d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56.1"; "ORDO:251510/attributed", "ORDO:251510/ntbt", "Orphanet:251510" . _:c213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154230"; "BTNT (broader term maps to a narrower term)"@en . _:c214d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300018"; "BTNT (broader term maps to a narrower term)"@en . _:c217d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612965"; "BTNT (broader term maps to a narrower term)"@en . _:c219d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613762"; "BTNT (broader term maps to a narrower term)"@en . _:c222d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615542"; "BTNT (broader term maps to a narrower term)"@en . _:c224d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616067"; "BTNT (broader term maps to a narrower term)"@en . _:c225d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616067"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c228d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616425"; "BTNT (broader term maps to a narrower term)"@en . _:c229d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725045004"; "MONDO:equivalentTo" . _:c22ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4510744"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c22bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY PGD"; "Orphanet:251510" . _:c22cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY partial gonadal dysgenesis"; rdfs:comment "preferred label from MONDO" . _:c22dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY partial testicular dysgenesis"; "Orphanet:251510" . _:c22ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:251510" . a owl:Class; rdfs:subClassOf ; "UMLS:C0206715"; rdfs:label "Rare tumor of neuroepithelial tissue"@en; "ORPHA:251558" . _:c230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206715"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:C71.9", "MedDRA:10026659", "OMIM:137800", "OMIM:616568", "UMLS:C0334590"; rdfs:label "Anaplastic oligodendroglioma"@en; "ORPHA:251630" . _:c234d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C71.9"; "NTBT (narrower term maps to a broader term)"@en . _:c235d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10026659"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c236d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137800"; "NTBT (narrower term maps to a broader term)"@en . _:c237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616568"; "NTBT (narrower term maps to a broader term)"@en . _:c238d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0334590"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Inherited nervous system cancer-predisposing syndrome"@en; "ORPHA:252190" . a owl:Class; rdfs:subClassOf ; , , ; "GARD:0007687", "ICD10:Q77.7", "MONDO:0016761", "MedDRA:10062920", "UMLS:C0038015"; "SED and SEMD", "spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia"; "Orphanet:253"; ; rdfs:label "Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia" . _:c23dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007687"; "MONDO:equivalentTo", "Orphanet-shared" . _:c23ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q77.7"; "ORDO:253/e", "ORDO:253/specific", "Orphanet:253" . _:c243d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062920"; "ORDO:253/e", "Orphanet:253" . _:c244d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SED and SEMD"; "Orphanet:253" . _:c246d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia"; rdfs:comment "preferred label from MONDO" . _:c248d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:253" . a owl:Class; rdfs:subClassOf ; "Microgastria-limb reduction defect syndrome is a rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported."@en; "orphanet"@en; "ICD-10:Q87.8", "MeSH:C537554", "OMIM:156810", "UMLS:C1834929"; rdfs:label "Microgastria-limb reduction defect syndrome"@en; "ORPHA:2538" . _:c24bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:c24cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537554"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c24dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:156810"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c24ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1834929"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit."; , ; ; "Isolated anophthalmia-microphthalmia syndrome"@en, "MAC spectrum"@en, "Microphthalmia-anophthalmia-coloboma spectrum"@en; "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit."@en; "orphanet"@en; "GARD:0012085", "ICD-10:Q11.0", "ICD-10:Q11.1", "ICD-10:Q11.2", "ICD10:Q11.0", "ICD10:Q11.1", "ICD10:Q11.2", "MONDO:0016764", "OMIM:156850", "OMIM:251600", "OMIM:610093", "OMIM:611038", "OMIM:613094", "OMIM:613517", "OMIM:613704", "OMIM:615113", "UMLS:CN202019"; "Clinical anophthalmia", "Isolated pure microphthalmia", "MAC spectrum", "Primitive anophthalmia", "isolated anophthalmia-microphthalmia syndrome", "microphthalmia-anophthalmia-coloboma spectrum", "nonsyndromic anophthalmia-microphthalmia syndrome"; "clinical anophthalmia", "isolated anophthalmia - microphthalmia", "isolated pure microphthalmia", "primitive anophthalmia"; "Orphanet:2542"; ; rdfs:label "Isolated anophthalmia - microphthalmia", "Isolated microphthalmia-anophthalmia-coloboma"@en; "ORPHA:2542" . _:c24fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit."; "Orphanet:2542" . _:c250d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2542" . _:c252d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012085"; "MONDO:equivalentTo", "Orphanet-shared" . _:c253d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.0"; "BTNT (broader term maps to a narrower term)"@en . _:c254d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.0"; "Specific code (The term has its own code in the ICD10)"@en . _:c255d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.1"; "BTNT (broader term maps to a narrower term)"@en . _:c259d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17530; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17530 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.1"; "Specific code (The term has its own code in the ICD10)"@en . _:c25ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.2"; "BTNT (broader term maps to a narrower term)"@en . _:c25fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.2"; "Specific code (The term has its own code in the ICD10)"@en . _:c260d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q11.0"; "ORDO:2542/btnt", "ORDO:2542/specific", "Orphanet:2542" . _:c263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q11.1"; "ORDO:2542/btnt", "ORDO:2542/specific", "Orphanet:2542" . _:c265d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q11.2"; "ORDO:2542/btnt", "ORDO:2542/specific", "Orphanet:2542" . _:c267d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:156850"; "BTNT (broader term maps to a narrower term)"@en . _:c26cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c26dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610093"; "BTNT (broader term maps to a narrower term)"@en . _:c26fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611038"; "BTNT (broader term maps to a narrower term)"@en . _:c272d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613094"; "BTNT (broader term maps to a narrower term)"@en . _:c273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613517"; "BTNT (broader term maps to a narrower term)"@en . _:c274d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613704"; "BTNT (broader term maps to a narrower term)"@en . _:c275d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615113"; "BTNT (broader term maps to a narrower term)"@en . _:c278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202019"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:c27ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAC spectrum"; "Orphanet:2542" . _:c27cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated anophthalmia-microphthalmia syndrome"; rdfs:comment "preferred label from MONDO" . _:c27dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia-anophthalmia-coloboma spectrum"; "Orphanet:2542" . _:c27fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic anophthalmia-microphthalmia syndrome"; "MONDO:patterns/isolated" . _:c280d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "clinical anophthalmia"; "GARD:0012085" . _:c281d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated anophthalmia - microphthalmia"; "GARD:0012085" . _:c283d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated pure microphthalmia"; "GARD:0012085" . _:c286d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primitive anophthalmia"; "GARD:0012085" . _:c288d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2542" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process."; , ; "ICD10:E74.4", "MONDO:0016789", "UMLS:CN226999"; "inborn error of pyruvate metabolic process", "inborn pyruvate metabolic process disorder", "pyruvate metabolism disorder", "rare inborn error of pyruvate metabolic process"; "rare inborn error of pyruvate metabolic process"; "Orphanet:254746"; ; rdfs:label "Pyruvate metabolism disorder" . _:c28bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process."; "MONDO:patterns/inborn_metabolic" . _:c28cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.4"; "ORDO:254746/attributed", "ORDO:254746/ntbt", "Orphanet:254746" . _:c28fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226999"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of pyruvate metabolic process"; "MONDO:patterns/inborn_metabolic" . _:c292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pyruvate metabolism disorder"; rdfs:comment "preferred label from MONDO" . _:c293d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of pyruvate metabolic process"; "MONDO:patterns/inborn_metabolic" . _:c294d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of pyruvate metabolic process"; "MONDO:patterns/inborn_metabolic" . _:c295d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:254746" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016791", "UMLS:CN202048"; "Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies", "OXPHOS disease due to mitochondrial DNA anomalies", "OXPHOS disease due to mtDNA anomalies", "mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies", "mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies"; "Orphanet:254758"; ; rdfs:label "Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies" . _:c298d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202048"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:c299d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXPHOS disease due to mitochondrial DNA anomalies"; "Orphanet:254758" . _:c29bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXPHOS disease due to mtDNA anomalies"; "Orphanet:254758" . _:c29dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies"; rdfs:comment "preferred label from MONDO" . _:c29fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies"; "Orphanet:254758" . _:c2a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:254758" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016792", "UMLS:CN202049"; "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA", "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA", "OXPHOS disease due to a large-scale single deletion of mtDNA", "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA", "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA"; "Orphanet:254767"; ; rdfs:label "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" . _:c2a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202049"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:c2a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA"; "Orphanet:254767" . _:c2a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXPHOS disease due to a large-scale single deletion of mtDNA"; "Orphanet:254767" . _:c2a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA"; rdfs:comment "preferred label from MONDO" . _:c2a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA"; "Orphanet:254767" . _:c2aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:254767" . a owl:Class; rdfs:subClassOf ; , , , ; "MESH:C580039", "MONDO:0016808", "OMIM:617156", "UMLS:C3711385", "UMLS:CN069134"; "deoxyguanosine kinase deficiency", "mitochondrial DNA depletion syndrome, hepatocerebral form", "mtDNA depletion syndrome, hepatocerebral form"; "Orphanet:254871"; ; rdfs:comment "Editor note: consider merging with MONDO:0014943"; rdfs:label "Mitochondrial DNA depletion syndrome, hepatocerebral form" . _:c2afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580039"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c2b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617156"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:c2b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3711385"; "MEDGEN:kboom-pr90-c94", "MONDO:equivalentTo", "Orphanet:254871" . _:c2b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN069134"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:c2b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deoxyguanosine kinase deficiency"; "Orphanet:254871" . _:c2b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial DNA depletion syndrome, hepatocerebral form"; rdfs:comment "preferred label from MONDO" . _:c2b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mtDNA depletion syndrome, hepatocerebral form"; "Orphanet:254871" . _:c2bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:254871" . a owl:Class; rdfs:subClassOf , ; "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)."; , , , , ; "HPD with diurnal fluctuation"@en, "Hereditary progressive dystonia with diurnal fluctuation"@en; "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency."@en; "orphanet", "orphanet"@en; "GARD:0009817", "ICD-10:G24.8", "ICD10:G24.8", "MESH:C538007", "MONDO:0016812", "MSH:C538007", "MeSH:C538007", "NCIT:C116719", "SCTID:230332007", "UMLS:C1851920"; "DYT5 dystonia", "HPD with diurnal fluctuation", "Hereditary progressive dystonia with diurnal fluctuation", "Segawa's disease", "dopa-responsive dystonia", "hereditary progressive dystonia with diurnal fluctuation"; "DYT-GCH1 (subtype)", "DYT-SPR (subtype)", "DYT-TH (subtype)", "DYT5"; "Orphanet:255"; ; rdfs:label "Dopa-responsive dystonia", "Dopa-responsive dystonia"@en; "ORPHA:255" . _:c2bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)."; "Orphanet:255" . _:c2c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009817"; "MONDO:equivalentTo", "Orphanet-shared" . _:c2c2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17585; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17585 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.8"; "Attributed"@en . _:c2c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.8"; "NTBT (narrower term maps to a broader term)"@en . _:c2c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.8"; "ORDO:255/attributed", "ORDO:255/ntbt", "Orphanet:255" . _:c2c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538007"; "MONDO:equivalentTo", "ORDO:255/e", "Orphanet:255" . _:c2c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538007"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c2c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C116719"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:c2cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230332007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.73" . _:c2ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1851920"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c2cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1851920"; "MONDO:equivalentTo", "NCIT:C116719", "ORDO:255/e", "Orphanet:255" . _:c2d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT5 dystonia"; "NCIT:C116719" . _:c2d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPD with diurnal fluctuation"; "Orphanet:255" . _:c2d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Segawa's disease"; "NCIT:C116719" . _:c2d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dopa-responsive dystonia"; rdfs:comment "preferred label from MONDO" . _:c2d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary progressive dystonia with diurnal fluctuation"; "Orphanet:255" . _:c2d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT-GCH1 (subtype)"; "GARD:0009817" . _:c2dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT-SPR (subtype)"; "GARD:0009817" . _:c2dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT-TH (subtype)"; "GARD:0009817" . _:c2dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT5"; "GARD:0009817" . _:c2ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:255" . a owl:Class; rdfs:subClassOf , ; "Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body."; ; , , , , , ; "Dystonia musculorum deformans"@en, "EOTD"@en, "Early-onset generalized torsion dystonia"@en, "Early-onset isolated dystonia"@en, "Early-onset primary dystonia"@en, "Early-onset torsion dystonia"@en, "Idiopathic torsion dystonia"@en, "Oppenheim dystonia"@en; "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region."@en; "orphanet"@en; "MONDO:0023033"; "DOID:0060730", "GARD:0002027", "ICD-10:G24.1", "ICD10:G24.1", "MESH:C538005", "MONDO:0007492", "OMIM:128100", "OMIM:602554", "UMLS:C0013423", "UMLS:C1851945", "UMLS:C3888090"; "DYT-TOR1A", "DYT1", "Dystonia musculorum deformans", "EOTD", "Early-onset generalized torsion dystonia", "Early-onset primary dystonia", "Early-onset torsion dystonia", "Idiopathic dystonia", "Idiopathic torsion dystonia", "Oppenheim dystonia", "dystonia musculorum deformans", "early-onset generalized limb-onset dystonia", "early-onset generalized torsion dystonia", "early-onset primary dystonia", "early-onset torsion dystonia", "idiopathic dystonia", "idiopathic torsion dystonia", "torsion dystonia type 1"; "DYT-TOR1A dystonia", "Dyt1", "Early onset torsion dystonia", "Early-onset Generalized torsion dystonia", "Early-onset Primary dystonia", "Early-onset torsion dystonia", "Oppenheim dystonia", "Oppenheim's dystonia", "Primary torsion dystonia", "dystonia 1", "dystonia 1, torsion, Autosomal dominant", "dystonia 1, torsion, autosomal dominant", "dystonia 1, torsion, autosomal dominant; DYT1", "dystonia musculorum deformans 1", "early onset torsion dystonia", "early-onset torsion dystonia", "idiopathic dystonia DYT1", "torsion dystonia 1", "torsion dystonia 1, autosomal dominant"; "Orphanet:256"; , ; rdfs:label "Early-onset generalized limb-onset dystonia", "Early-onset generalized limb-onset dystonia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia"^^xsd:anyURI; "ORPHA:256" . _:c2ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body."; "Orphanet:256" . _:c2eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060730"; "MONDO:equivalentTo" . _:c2efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002027"; "MONDO:equivalentTo" . _:c2f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c2f2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17609; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17609 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "Specific code (The term has its own code in the ICD10)"@en . _:c2f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.1"; "DOID:0060730", "ORDO:256/e", "ORDO:256/specific", "Orphanet:256" . _:c2f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538005"; "MONDO:equivalentTo" . _:c2f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:128100"; "BTNT (broader term maps to a narrower term)"@en . _:c2fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:128100"; "DOID:0060730", "GARD:0002027", "MEDIC:C538005", "MONDO:equivalentTo", "ORDO:256/btnt", "Orphanet:256" . _:c2fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602554"; "BTNT (broader term maps to a narrower term)"@en . _:c301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013423"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c303d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013423"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:256" . _:c30dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1851945"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c30fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3888090"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c312d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3888090"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:256" . _:c313d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT-TOR1A"; "MONDO:cjm", "https://www.ncbi.nlm.nih.gov/books/NBK1155/" . _:c314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT1"; "Orphanet:256" . _:c315d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EOTD"; "GARD:0002027", "MESH:C538005", "Orphanet:256" . _:c316d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oppenheim dystonia"; "Orphanet:256" . _:c317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia musculorum deformans"; "DOID:0060730", "Orphanet:256" . _:c32fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset generalized limb-onset dystonia"; "Orphanet:256" . _:c330d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset generalized limb-onset dystonia"; rdfs:comment "preferred label from MONDO" . _:c334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset generalized torsion dystonia"; "Orphanet:256" . _:c339d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset primary dystonia"; "Orphanet:256" . _:c33ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset torsion dystonia"; "Orphanet:256" . _:c33cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic dystonia"; "Orphanet:256" . _:c33ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic torsion dystonia"; "Orphanet:256" . _:c340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "torsion dystonia type 1"; "DOID:0060730", "MONDORULE:1" . _:c342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT-TOR1A dystonia"; "GARD:0002027" . _:c343d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dyt1"; "MESH:C538005" . _:c345d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Early onset torsion dystonia"; "MESH:C538005" . _:c348d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Early-onset Generalized torsion dystonia"; "MESH:C538005" . _:c349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Early-onset Primary dystonia"; "MESH:C538005" . _:c34ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Early-onset torsion dystonia"; "MESH:C538005" . _:c34cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oppenheim dystonia"; "MESH:C538005" . _:c34ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oppenheim's dystonia"; "GARD:0002027", "MESH:C538005" . _:c350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary torsion dystonia"; "MESH:C538005" . _:c352d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia 1"; "GARD:0002027" . _:c355d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia 1, torsion, Autosomal dominant"; "MESH:C538005" . _:c357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia 1, torsion, autosomal dominant"; "GARD:0002027", "MONDO:Lexical", "OMIM:128100" . _:c35ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia 1, torsion, autosomal dominant; DYT1"; "OMIM:128100" . _:c35dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia musculorum deformans 1"; "GARD:0002027", "MESH:C538005", "OMIM:128100" . _:c35ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early onset torsion dystonia"; "GARD:0002027" . _:c35fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset torsion dystonia"; "OMIM:128100" . _:c360d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic dystonia DYT1"; "GARD:0002027" . _:c361d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "torsion dystonia 1"; "DOID:0060730" . _:c362d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "torsion dystonia 1, autosomal dominant"; "MESH:C538005" . _:c365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:256" . _:c367d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia"^^xsd:anyURI; "GARD:0002027" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy."; , , , , , ; "EBS-MD"@en, "Limb-girdle muscular dystrophy with epidermolysis bullosa simplex"@en; "Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy."@en; "orphanet", "orphanet"@en; "DOID:0090017", "GARD:0002137", "ICD-10:Q81.0", "ICD10:Q81.0", "MESH:C535955", "MONDO:0009181", "OMIM:226670", "SCTID:723308003", "UMLS:C2931072"; "EBS-MD", "Limb-girdle muscular dystrophy with epidermolysis bullosa simplex", "epidermolysis bullosa simplex and limb-girdle muscular dystrophy", "epidermolysis bullosa simplex with muscular dystrophy", "limb-girdle muscular dystrophy with epidermolysis bullosa simplex"; "EBSMD", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysa bullosa simplex with muscular dystrophy", "MD-EBS", "MDEBS", "epidermolysis bullosa simplex - limb girdle muscular dystrophy", "epidermolysis bullosa simplex with muscular dystrophy; EBSMD"; "Orphanet:257"; , ; rdfs:label "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with muscular dystrophy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy"^^xsd:anyURI; "ORPHA:257" . _:c374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy."; "Orphanet:257" . _:c375d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090017"; "MONDO:equivalentTo" . _:c377d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002137"; "MONDO:equivalentTo" . _:c379d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17658; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17658 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.0"; "Attributed"@en . _:c37bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.0"; "NTBT (narrower term maps to a broader term)"@en . _:c37dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.0"; "DOID:0090017", "MONDO:subClassOf", "ORDO:257/attributed", "ORDO:257/ntbt", "Orphanet:257" . _:c37ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535955"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c37fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:226670"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:226670"; "DOID:0090017", "GARD:0002137", "MONDO:equivalentTo", "ORDO:257/e", "Orphanet:257" . _:c384d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:723308003"; "MONDO:equivalentTo" . _:c385d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931072"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c387d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931072"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:226670", "Orphanet:257" . _:c38bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EBS-MD"; "GARD:0002137", "Orphanet:257" . _:c38dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa simplex and limb-girdle muscular dystrophy"; "DOID:0090017", "OMIM:226670" . _:c392d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa simplex with muscular dystrophy"; "MONDO:Lexical", "OMIM:226670" . _:c393d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa simplex with muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:c394d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy with epidermolysis bullosa simplex"; "DOID:0090017", "Orphanet:257" . _:c397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EBSMD"; "MONDO:Lexical", "OMIM:226670" . _:c399d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermolysa bullosa simplex and limb girdle muscular dystrophy"; "GARD:0002137" . _:c39ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermolysa bullosa simplex with muscular dystrophy"; "GARD:0002137" . _:c39ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MD-EBS"; "GARD:0002137", "OMIM:226670" . _:c39fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDEBS"; "GARD:0002137" . _:c3a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa simplex - limb girdle muscular dystrophy"; "GARD:0002137" . _:c3a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa simplex with muscular dystrophy; EBSMD"; "OMIM:226670" . _:c3a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:257" . _:c3a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy"^^xsd:anyURI; "GARD:0002137" . a owl:Class; rdfs:subClassOf , , , , ; , , , ; "Alopecia-epilepsy-intellectual disability syndrome, Moynahan type"@en; "A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated."@en; "orphanet"@en; "GARD:0000606", "ICD-10:G40.4", "ICD10:G40.4", "MESH:C537052", "MONDO:0008755", "OMIM:203600", "UMLS:C0265328"; "Alopecia-epilepsy-oligophrenia syndrome, Moynahan type", "Moynahan syndrome", "alopecia-epilepsy-intellectual disability syndrome, Moynahan type"; "Moynahan alopecia syndrome", "alopecia epilepsy oligophrenia syndrome of Moynahan", "alopecia-epilepsy-oligophrenia syndrome of Moynahan"; "Orphanet:2574"; ; rdfs:label "Moynahan syndrome", "Moynahan syndrome"@en; "ORPHA:2574" . _:c3b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000606"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:c3b2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17683; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17683 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "Attributed"@en . _:c3b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "NTBT (narrower term maps to a broader term)"@en . _:c3b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.4"; "ORDO:2574/attributed", "ORDO:2574/ntbt", "Orphanet:2574" . _:c3bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537052"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c3bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:203600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c3bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:203600"; "MONDO:equivalentTo", "ORDO:2574/e", "Orphanet:2574" . _:c3c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265328"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c3c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Moynahan syndrome"; rdfs:comment "preferred label from MONDO" . _:c3c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alopecia-epilepsy-intellectual disability syndrome, Moynahan type"; "Orphanet:2574" . _:c3c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Moynahan alopecia syndrome"; "OMIM:203600" . _:c3c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alopecia epilepsy oligophrenia syndrome of Moynahan"; "GARD:0000606" . _:c3c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alopecia-epilepsy-oligophrenia syndrome of Moynahan"; "OMIM:203600" . _:c3cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2574" . a owl:Class; rdfs:subClassOf , , ; "MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems.", "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used."; , , , ; "Atypical MRKH syndrome"@en, "MRKH syndrome type 2"@en, "MURCS association"@en, "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"@en; "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used."@en; "orphanet", "orphanet"@en; "GARD:0005513", "ICD-10:Q87.8", "ICD10:Q87.8", "MONDO:0010989", "OMIM:601076", "SCTID:717705004", "UMLS:C1832817"; "Klippel-Feil deformity - conductive deafness - absent vagina", "MRKH syndrome type 2", "MURCS association", "Mayer-Rokitansky-Küster-Hauser syndrome type 2", "Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome", "Müllerian aplasia-renal aplasia-cervicothoracic somite dysplasia syndrome", "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome", "atypical MRKH syndrome"; "Klippel-Feil deformity, conductive deafness, and absent vagina", "MRKH, type 2", "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies", "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; MURCS", "MURCS", "Mayer-Rokitansky-Kuster-Hauser syndrome, type 2"; "Orphanet:2578"; ; rdfs:label "MURCS association", "Mayer-Rokitansky-Küster-Hauser syndrome type 2"@en; "ORPHA:2578" . _:c3ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used."; "Orphanet:2578" . _:c3cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005513"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:c3d0d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17699; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17699 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:c3d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:c3dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:2578/attributed", "ORDO:2578/ntbt", "Orphanet:2578" . _:c3dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601076"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c3dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601076"; "MONDO:equivalentTo", "ORDO:2578/e", "Orphanet:2578" . _:c3e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717705004"; "MONDO:equivalentTo" . _:c3e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832817"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c3e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRKH syndrome type 2"; "Orphanet:2578" . _:c3e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MURCS association"; "Orphanet:2578" . _:c3e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayer-Rokitansky-Küster-Hauser syndrome type 2"; "Orphanet:2578" . _:c3e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayer-Rokitansky-Küster-Hauser syndrome type 2"; rdfs:comment "preferred label from MONDO" . _:c3efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"; "Orphanet:2578" . _:c3f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"; "Orphanet:2578" . _:c3f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical MRKH syndrome"; "Orphanet:2578" . _:c3f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Klippel-Feil deformity, conductive deafness, and absent vagina"; "OMIM:601076" . _:c3f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRKH, type 2"; "OMIM:601076" . _:c3f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies"; "MONDO:Lexical", "OMIM:601076" . _:c3f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; MURCS"; "OMIM:601076" . _:c3f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MURCS"; "MONDO:Lexical", "OMIM:601076" . _:c3f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayer-Rokitansky-Kuster-Hauser syndrome, type 2"; "OMIM:601076" . _:c3fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2578" . a owl:Class; rdfs:subClassOf , , , , , ; "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms).", "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)."; , , ; "Combined defect in adenosylcobalamin and methylcobalamin synthesis"@en, "Methylmalonic aciduria with homocystinuria"@en; "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)."@en; "orphanet", "orphanet"@en; "DC:0000274", "GARD:0003579", "ICD-10:E71.1", "ICD10:E71.1", "ICD10:E72.1", "MESH:C537359", "MONDO:0016826", "MSH:C537359", "MeSH:C537359", "OMIM:277380", "OMIM:277400", "OMIM:277410", "OMIM:614857", "UMLS:C1848561"; "Combined defect in adenosylcobalamin and methylcobalamin synthesis", "Methylmalonic aciduria with homocystinuria", "combined defect in adenosylcobalamin and methylcobalamin synthesis", "methylmalonic acidemia with homocystinuria", "methylmalonic aciduria with homocystinuria"; "methylmalonic acidemia and homocystinemia"; "Orphanet:26"; , ; rdfs:label "Methylmalonic acidemia with homocystinuria", "Methylmalonic acidemia with homocystinuria"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria"^^xsd:anyURI; "ORPHA:26" . _:c3ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)."; "Orphanet:26" . _:c400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000274"; "MONDO:equivalentTo" . _:c401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003579"; "MONDO:equivalentTo" . _:c402d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17724; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17724 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "Attributed"@en . _:c403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "NTBT (narrower term maps to a broader term)"@en . _:c404d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "ORDO:26/attributed", "ORDO:26/ntbt", "Orphanet:26" . _:c405d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537359"; "MONDO:equivalentTo", "ORDO:26/e", "Orphanet:26" . _:c406d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537359"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c407d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277380"; "BTNT (broader term maps to a narrower term)"@en . _:c408d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277400"; "BTNT (broader term maps to a narrower term)"@en . _:c40ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277410"; "BTNT (broader term maps to a narrower term)"@en . _:c40bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614857"; "BTNT (broader term maps to a narrower term)"@en . _:c40cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1848561"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c40ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined defect in adenosylcobalamin and methylcobalamin synthesis"; "Orphanet:26" . _:c40fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia with homocystinuria"; rdfs:comment "preferred label from MONDO" . _:c412d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria with homocystinuria"; "Orphanet:26" . _:c414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia and homocystinemia"; "GARD:0003579" . _:c416d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003579" . _:c417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:26" . _:c419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria"^^xsd:anyURI; "GARD:0003579" . a owl:Class; rdfs:subClassOf , , ; "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy."; ; , , , , , ; "EDMD"@en; "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy."@en; "orphanet", "orphanet"@en; "DOID:11726", "GARD:0006329", "ICD-10:G71.0", "ICD10:G71.0", "MESH:D020389", "MONDO:0016830", "MSH:D020389", "MeSH:D020389", "NCIT:C84685", "OMIM:181350", "OMIM:300696", "OMIM:310300", "OMIM:612998", "OMIM:612999", "OMIM:614302", "OMIM:616516", "OMIMPS:310300", "SCTID:111508004", "UMLS:C0410189"; "EDMD", "Emery-Dreifuss muscular dystrophy"; "Humeroperoneal neuromuscular disease, (formerly)", "scapuloperoneal syndrome, X-linked (formerly)"; "Orphanet:261"; ; rdfs:label "Emery-Dreifuss muscular dystrophy", "Emery-Dreifuss muscular dystrophy"@en; "ORPHA:261" . _:c421d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy."; "Orphanet:261" . _:c423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11726"; "MONDO:equivalentTo" . _:c424d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006329"; "MONDO:equivalentTo", "Orphanet-shared" . _:c425d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17745; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17745 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c428d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:c42ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:261/inclusion", "ORDO:261/ntbt", "Orphanet:261" . _:c42bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020389"; "DOID:11726", "MONDO:equivalentTo", "ORDO:261/e", "Orphanet:261" . _:c42dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020389"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c42fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84685"; "DOID:11726", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:c432d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:181350"; "BTNT (broader term maps to a narrower term)"@en . _:c433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300696"; "BTNT (broader term maps to a narrower term)"@en . _:c435d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:310300"; "BTNT (broader term maps to a narrower term)"@en . _:c438d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612998"; "BTNT (broader term maps to a narrower term)"@en . _:c439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612999"; "BTNT (broader term maps to a narrower term)"@en . _:c43ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614302"; "BTNT (broader term maps to a narrower term)"@en . _:c43bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616516"; "BTNT (broader term maps to a narrower term)"@en . _:c43cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:310300"; "MONDO:cjm", "MONDO:equivalentTo" . _:c43dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:111508004"; "DOID:11726", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:c445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0410189"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c446d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0410189"; "DOID:11726", "MONDO:equivalentTo", "NCIT:C84685", "ORDO:261/e", "Orphanet:261" . _:c447d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDMD"; "DOID:11726", "Orphanet:261" . _:c448d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Emery-Dreifuss muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:c44ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Humeroperoneal neuromuscular disease, (formerly)"; "GARD:0006329" . _:c44bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "scapuloperoneal syndrome, X-linked (formerly)"; "GARD:0006329" . _:c44dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261" . a owl:Class; rdfs:subClassOf , , ; "FDGC"@en, "Familial diffuse cancer of stomach"@en, "Familial diffuse gastric cancer"@en, "HDGC"@en, "Hereditary diffuse cancer of stomach"@en, "Hereditary diffuse gastric adenocarcinoma"@en; "Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well."@en; "orphanet"@en; "ICD-10:C16.9", "ICD10:C16", "OMIM:137215", "UMLS:C1708349"; "Familial stomach cancer"; rdfs:label "Familial gastric cancer", "Hereditary diffuse gastric cancer"@en; "ORPHA:26106" . _:c47dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17768; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "ND (not yet decided/unable to decide)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17768 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C16.9"; "Attributed"@en . _:c480d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C16.9"; "ND (not yet decided/unable to decide)"@en . _:c482d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137215"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c484d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1708349"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies."; , , , , , , , ; "Onychoosteodysplasia"@en, "Turner-Kieser syndrome"@en; "Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies."@en; "orphanet"@en; "DOID:9467", "GARD:0007160", "ICD-10:Q87.2", "ICD10:Q87.2", "ICD9:759.89", "MESH:D009261", "MONDO:0008061", "MSH:D009261", "MeSH:D009261", "MedDRA:10063431", "NCIT:C75120", "OMIM:161200", "SCTID:22199006", "UMLS:C0027341"; "Fong disease", "Onychoosteodysplasia", "Turner-Kieser syndrome", "Turner-Kiser syndrome", "hereditary Osteo-onychodysplasia", "hereditary onychoostedysplasia", "iliac horn syndrome", "nail patella syndrome", "nail-patella syndrome"; "Arthro-onychodysplasia", "NPS", "NPS 1", "Nps1", "Osteo-onychodysplasia", "nail-patella syndrome; NPS"; "Orphanet:2614"; , ; rdfs:label "Nail-patella syndrome", "Nail-patella syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome"^^xsd:anyURI; "ORPHA:2614" . _:c487d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies."; "Orphanet:2614" . _:c488d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9467"; "MONDO:equivalentTo" . _:c48ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007160"; "MONDO:equivalentTo" . _:c48cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17776; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17776 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c48fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "NTBT (narrower term maps to a broader term)"@en . _:c490d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.2"; "DOID:9467", "ORDO:2614/inclusion", "ORDO:2614/ntbt", "Orphanet:2614" . _:c492d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:c495d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009261"; "DOID:9467", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2614/e", "Orphanet:2614" . _:c497d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009261"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c498d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063431"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c49ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063431"; "ORDO:2614/e", "Orphanet:2614" . _:c49dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75120"; "DOID:9467", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:c49ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:161200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c49fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:161200"; "DOID:9467", "MONDO:equivalentTo", "ORDO:2614/e", "Orphanet:2614" . _:c4a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:22199006"; "DOID:9467", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:c4a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027341"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c4a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027341"; "DOID:9467", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C75120", "OMIM:161200", "ORDO:2614/e", "Orphanet:2614" . _:c4a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fong disease"; "DOID:9467" . _:c4a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Onychoosteodysplasia"; "OMIM:161200", "Orphanet:2614" . _:c4a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Turner-Kieser syndrome"; "OMIM:161200", "Orphanet:2614" . _:c4aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Turner-Kiser syndrome"; "DOID:9467" . _:c4acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary Osteo-onychodysplasia"; "NCIT:C75120" . _:c4aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary onychoostedysplasia"; "DOID:9467" . _:c4b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iliac horn syndrome"; "DOID:9467" . _:c4b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nail patella syndrome"; "CSP2005:0726-3953", "DOID:9467" . _:c4b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nail-patella syndrome"; "MONDO:Lexical", "OMIM:161200" . _:c4b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nail-patella syndrome"; rdfs:comment "preferred label from MONDO" . _:c4b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arthro-onychodysplasia"; "GARD:0007160" . _:c4b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPS"; "MONDO:Lexical", "OMIM:161200" . _:c4b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPS 1"; "GARD:0007160" . _:c4bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nps1"; "OMIM:161200" . _:c4bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Osteo-onychodysplasia"; "GARD:0007160" . _:c4c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nail-patella syndrome; NPS"; "OMIM:161200" . _:c4c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007160" . _:c4c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2614" . _:c4cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome"^^xsd:anyURI; "GARD:0007160" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016869"; "Partial monosomy of chromosome 4", "partial deletion of chromosome 4", "partial deletion of chromosome type 4", "partial monosomy of chromosome 4"; "Orphanet:261781"; ; rdfs:label "Partial deletion of chromosome 4" . _:c4ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 4"; rdfs:comment "preferred label from MONDO" . _:c4ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome type 4"; "MONDORULE:1", "Orphanet:261781" . _:c4cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 4"; "Orphanet:261781" . _:c4d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261781" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.5", "MONDO:0016871"; "Partial monosomy of chromosome 6", "partial deletion of chromosome 6", "partial deletion of chromosome type 6", "partial monosomy of chromosome 6"; "Orphanet:261791"; ; rdfs:label "Partial deletion of chromosome 6" . _:c4d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:261791/attributed", "ORDO:261791/ntbt", "Orphanet:261791" . _:c4d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 6"; rdfs:comment "preferred label from MONDO" . _:c4d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome type 6"; "MONDORULE:1", "Orphanet:261791" . _:c4d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 6"; "Orphanet:261791" . _:c4d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261791" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.5", "MONDO:0016872"; "Partial monosomy of chromosome 7", "partial deletion of chromosome 7", "partial deletion of chromosome type 7", "partial monosomy of chromosome 7"; "Orphanet:261796"; ; rdfs:label "Partial deletion of chromosome 7" . _:c4dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:261796/attributed", "ORDO:261796/ntbt", "Orphanet:261796" . _:c4dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 7"; rdfs:comment "preferred label from MONDO" . _:c4ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome type 7"; "MONDORULE:1", "Orphanet:261796" . _:c4dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 7"; "Orphanet:261796" . _:c4e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261796" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.5", "MONDO:0016875"; "Partial monosomy of chromosome 10", "partial deletion of chromosome 10", "partial monosomy of chromosome 10"; "Orphanet:261811"; ; rdfs:label "Partial deletion of chromosome 10" . _:c4e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "Orphanet:261811" . _:c4e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 10"; rdfs:comment "preferred label from MONDO" . _:c4e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 10"; "Orphanet:261811" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.5", "MONDO:0016876"; "Partial monosomy of chromosome 11", "partial deletion of chromosome 11", "partial deletion of chromosome type 11", "partial monosomy of chromosome 11"; "Orphanet:261816"; ; rdfs:label "Partial deletion of chromosome 11" . _:c4e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:261816/attributed", "ORDO:261816/ntbt", "Orphanet:261816" . _:c4e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 11"; rdfs:comment "preferred label from MONDO" . _:c4ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome type 11"; "MONDORULE:2", "Orphanet:261816" . _:c4ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 11"; "Orphanet:261816" . _:c4eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261816" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.5", "MONDO:0016878"; "Partial monosomy of chromosome 16", "partial deletion of chromosome 16", "partial deletion of chromosome type 16", "partial monosomy of chromosome 16"; "Orphanet:261826"; ; rdfs:label "Partial deletion of chromosome 16" . _:c4f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:261826/attributed", "ORDO:261826/ntbt", "Orphanet:261826" . _:c4f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 16"; rdfs:comment "preferred label from MONDO" . _:c4f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome type 16"; "MONDORULE:2", "Orphanet:261826" . _:c4f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 16"; "Orphanet:261826" . _:c4f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261826" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.3", "MONDO:0016886"; "Partial deletion of chromosome 4p", "Partial monosomy of chromosome 4p", "Partial monosomy of the short arm of chromosome 4", "partial deletion of chromosome 4p", "partial deletion of the short arm of chromosome 4", "partial deletion of the short arm of chromosome type 4", "partial monosomy of chromosome 4p", "partial monosomy of the short arm of chromosome 4"; "Orphanet:261884"; ; rdfs:label "Partial deletion of the short arm of chromosome 4" . _:c4f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.3"; "MONDO:relatedTo", "ORDO:261884/e", "ORDO:261884/specific", "Orphanet:261884" . _:c4fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 4p"; "Orphanet:261884" . _:c4fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the short arm of chromosome 4"; rdfs:comment "preferred label from MONDO" . _:c4ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the short arm of chromosome type 4"; "MONDORULE:1", "Orphanet:261884" . _:c501d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 4p"; "Orphanet:261884" . _:c502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the short arm of chromosome 4"; "Orphanet:261884" . _:c504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261884" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:Q93.5", "MONDO:0016892", "UMLS:C0795836"; "Partial deletion of chromosome 10p", "Partial monosomy of chromosome 10p", "Partial monosomy of the short arm of chromosome 10", "partial deletion of chromosome 10p", "partial deletion of the short arm of chromosome 10", "partial deletion of the short arm of chromosome type 10", "partial monosomy of chromosome 10p", "partial monosomy of the short arm of chromosome 10"; "Orphanet:261938"; ; rdfs:label "Partial deletion of the short arm of chromosome 10" . _:c50ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:261938/attributed", "ORDO:261938/ntbt", "Orphanet:261938" . _:c50cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0795836"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:261938/e", "Orphanet:261938" . _:c50ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 10p"; "Orphanet:261938" . _:c510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the short arm of chromosome 10"; rdfs:comment "preferred label from MONDO" . _:c512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the short arm of chromosome type 10"; "MONDORULE:2", "Orphanet:261938" . _:c519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 10p"; "Orphanet:261938" . _:c51ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the short arm of chromosome 10"; "Orphanet:261938" . _:c51bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261938" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.5", "MONDO:0016893"; "Partial deletion of chromosome 11p", "Partial monosomy of chromosome 11p", "Partial monosomy of the short arm of chromosome 11", "partial deletion of chromosome 11p", "partial deletion of the short arm of chromosome 11", "partial deletion of the short arm of chromosome type 11", "partial monosomy of chromosome 11p", "partial monosomy of the short arm of chromosome 11"; "Orphanet:261947"; ; rdfs:label "Partial deletion of the short arm of chromosome 11" . _:c524d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:261947/attributed", "ORDO:261947/ntbt", "Orphanet:261947" . _:c525d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 11p"; "Orphanet:261947" . _:c526d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the short arm of chromosome 11"; rdfs:comment "preferred label from MONDO" . _:c527d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the short arm of chromosome type 11"; "MONDORULE:2", "Orphanet:261947" . _:c528d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 11p"; "Orphanet:261947" . _:c529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the short arm of chromosome 11"; "Orphanet:261947" . _:c52ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261947" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.5", "MONDO:0016894"; "Partial deletion of chromosome 16p", "Partial monosomy of chromosome 16p", "Partial monosomy of the short arm of chromosome 16", "partial deletion of chromosome 16p", "partial deletion of the short arm of chromosome 16", "partial deletion of the short arm of chromosome type 16", "partial monosomy of chromosome 16p", "partial monosomy of the short arm of chromosome 16"; "Orphanet:261956"; ; rdfs:label "Partial deletion of the short arm of chromosome 16" . _:c530d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:261956/attributed", "ORDO:261956/ntbt", "Orphanet:261956" . _:c531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 16p"; "Orphanet:261956" . _:c532d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the short arm of chromosome 16"; rdfs:comment "preferred label from MONDO" . _:c536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the short arm of chromosome type 16"; "MONDORULE:2", "Orphanet:261956" . _:c539d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 16p"; "Orphanet:261956" . _:c53ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the short arm of chromosome 16"; "Orphanet:261956" . _:c53bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261956" . a owl:Class; rdfs:subClassOf , , ; "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle."; ; , ; "Severe dystrophinopathy, Duchenne and Becker type"@en; "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle."@en; "orphanet"@en; "ICD-10:G71.0", "ICD10:G71.0", "MONDO:0016899", "UMLS:C0917713", "UMLS:C3542021", "UMLS:CN227033"; "Duchenne and Becker muscular dystrophy", "Severe dystrophinopathy, Duchenne and Becker type", "severe dystrophinopathy, Duchenne and Becker type"; "Orphanet:262"; ; rdfs:label "Duchenne and Becker muscular dystrophy", "Duchenne and Becker muscular dystrophy"@en; "ORPHA:262" . _:c545d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle."; "Orphanet:262" . _:c547d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17867; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17867 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c549d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:c54ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:262/inclusion", "ORDO:262/ntbt", "Orphanet:262" . _:c54bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0917713"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c54cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3542021"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c54dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227033"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:c54ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duchenne and Becker muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:c54fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe dystrophinopathy, Duchenne and Becker type"; "Orphanet:262" . _:c550d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262" . a owl:Class; rdfs:subClassOf ; "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."; , , ; "GARD:0003760", "ICD10:Q93.5", "MESH:C537807", "MONDO:0016905", "UMLS:C0795816"; "Partial deletion of chromosome 6q", "Partial monosomy of chromosome 6q", "Partial monosomy of the long arm of chromosome 6", "partial deletion of chromosome 6q", "partial deletion of the long arm of chromosome 6", "partial deletion of the long arm of chromosome type 6", "partial monosomy of chromosome 6q", "partial monosomy of the long arm of chromosome 6"; "6q deletion", "6q monosomy", "chromosome 6q deletion", "deletion 6q", "monosomy 6q", "partial monosomy 6q"; "Orphanet:262047"; , ; rdfs:label "Partial deletion of the long arm of chromosome 6" . _:c555d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."; "GARD:0003760" . _:c557d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003760"; "MONDO:equivalentTo" . _:c558d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:262047/attributed", "ORDO:262047/ntbt", "Orphanet:262047" . _:c55cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537807"; "MONDO:equivalentTo" . _:c55dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0795816"; "GARD:0003760", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:262047" . _:c55ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 6q"; "Orphanet:262047" . _:c560d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome 6"; rdfs:comment "preferred label from MONDO" . _:c562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome type 6"; "MONDORULE:1", "Orphanet:262047" . _:c563d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 6q"; "Orphanet:262047" . _:c567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the long arm of chromosome 6"; "Orphanet:262047" . _:c56ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "6q deletion"; "GARD:0003760" . _:c56cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "6q monosomy"; "GARD:0003760" . _:c570d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 6q deletion"; "GARD:0003760" . _:c572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deletion 6q"; "GARD:0003760" . _:c574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy 6q"; "GARD:0003760" . _:c575d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy 6q"; "GARD:0003760" . _:c576d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262047" . a owl:Class; rdfs:subClassOf ; "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."; ; , ; "GARD:0003765", "ICD10:Q93.5", "MONDO:0016906", "NCIT:C36408"; "Partial deletion of chromosome 7q", "Partial monosomy of chromosome 7q", "Partial monosomy of the long arm of chromosome 7", "del(7q)", "loss of chromosome 7q", "partial deletion of chromosome 7q", "partial deletion of the long arm of chromosome 7", "partial deletion of the long arm of chromosome type 7", "partial monosomy of chromosome 7q", "partial monosomy of the long arm of chromosome 7"; "7q deletion", "7q monosomy", "deletion 7q", "monosomy 7q", "partial monosomy 7q"; "Orphanet:262056"; , ; rdfs:label "Partial deletion of the long arm of chromosome 7" . _:c57ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."; "GARD:0003765" . _:c57bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003765"; "MONDO:equivalentTo" . _:c57cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:262056/attributed", "ORDO:262056/ntbt", "Orphanet:262056" . _:c57dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C36408"; "MONDO:equivalentTo" . _:c57ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "del(7q)"; "NCIT:C36408" . _:c5add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "loss of chromosome 7q"; "NCIT:C36408" . _:c5aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 7q"; "Orphanet:262056" . _:c5b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome 7"; rdfs:comment "preferred label from MONDO" . _:c5b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome type 7"; "MONDORULE:1", "Orphanet:262056" . _:c5b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 7q"; "Orphanet:262056" . _:c5bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the long arm of chromosome 7"; "Orphanet:262056" . _:c5bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "7q deletion"; "GARD:0003765" . _:c5bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "7q monosomy"; "GARD:0003765" . _:c5c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deletion 7q"; "GARD:0003765" . _:c5c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy 7q"; "GARD:0003765" . _:c5c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy 7q"; "GARD:0003765" . _:c5c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262056" . a owl:Class; rdfs:subClassOf ; ; , ; "GARD:0001746", "ICD10:Q93.5", "MESH:C538038", "MONDO:0016913"; "Partial deletion of chromosome 15q", "Partial monosomy of chromosome 15q", "Partial monosomy of the long arm of chromosome 15", "partial deletion of chromosome 15q", "partial deletion of the long arm of chromosome 15", "partial deletion of the long arm of chromosome type 15", "partial monosomy of chromosome 15q", "partial monosomy of the long arm of chromosome 15"; "15q deletion", "15q monosomy", "chromosome 15q deletion", "deletion 15q", "monosomy 15q", "partial monosomy 15q"; "Orphanet:262119"; ; rdfs:label "Partial deletion of the long arm of chromosome 15" . _:c5ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001746"; "MONDO:equivalentTo" . _:c5ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:262119/attributed", "ORDO:262119/ntbt", "Orphanet:262119" . _:c5d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538038"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c5d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 15q"; "Orphanet:262119" . _:c5d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome 15"; rdfs:comment "preferred label from MONDO" . _:c5dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome type 15"; "MONDORULE:2", "Orphanet:262119" . _:c5dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 15q"; "Orphanet:262119" . _:c5ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the long arm of chromosome 15"; "Orphanet:262119" . _:c5dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "15q deletion"; "GARD:0001746" . _:c5e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "15q monosomy"; "GARD:0001746" . _:c5e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 15q deletion"; "GARD:0001746" . _:c5e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deletion 15q"; "GARD:0001746" . _:c5e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy 15q"; "GARD:0001746" . _:c5e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy 15q"; "GARD:0001746" . _:c5e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262119" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.5", "MONDO:0016920"; "Partial deletion of chromosome 22q", "Partial monosomy of chromosome 22q", "Partial monosomy of the long arm of chromosome 22", "partial deletion of chromosome 22q", "partial deletion of the long arm of chromosome 22", "partial deletion of the long arm of chromosome type 22", "partial monosomy of chromosome 22q", "partial monosomy of the long arm of chromosome 22"; "Orphanet:262182"; ; rdfs:label "Partial deletion of the long arm of chromosome 22" . _:c5eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:262182/attributed", "ORDO:262182/ntbt", "Orphanet:262182" . _:c5efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome 22q"; "Orphanet:262182" . _:c5f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome 22"; rdfs:comment "preferred label from MONDO" . _:c5f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome type 22"; "MONDORULE:2", "Orphanet:262182" . _:c5f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome 22q"; "Orphanet:262182" . _:c5f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the long arm of chromosome 22"; "Orphanet:262182" . _:c5f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262182" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016928", "SCTID:726346004"; "Partial trisomy of chromosome 7", "partial duplication of chromosome 7", "partial duplication of chromosome type 7", "partial trisomy of chromosome 7"; "Orphanet:262633"; ; rdfs:label "Partial duplication of chromosome 7" . _:c5f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:726346004"; "MONDO:equivalentTo" . _:c5f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of chromosome 7"; rdfs:comment "preferred label from MONDO" . _:c5f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of chromosome type 7"; "MONDORULE:1", "Orphanet:262633" . _:c5fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy of chromosome 7"; "Orphanet:262633" . _:c5fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262633" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0016932", "SCTID:726350006"; "Partial trisomy of chromosome 11", "partial duplication of chromosome 11", "partial duplication of chromosome type 11", "partial trisomy of chromosome 11"; "Orphanet:262653"; ; rdfs:label "Partial duplication of chromosome 11" . _:c5ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:726350006"; "MONDO:equivalentTo" . _:c602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of chromosome 11"; rdfs:comment "preferred label from MONDO" . _:c603d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of chromosome type 11"; "MONDORULE:2", "Orphanet:262653" . _:c604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy of chromosome 11"; "Orphanet:262653" . _:c606d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262653" . a owl:Class; rdfs:subClassOf ; "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."; , , ; "GARD:0005355", "MESH:C537819", "MONDO:0016944", "UMLS:C0795820"; "Partial duplication of chromosome 7p", "Partial trisomy of chromosome 7p", "Partial trisomy of the short arm of chromosome 7", "partial duplication of chromosome 7p", "partial duplication of the short arm of chromosome 7", "partial duplication of the short arm of chromosome type 7", "partial trisomy of chromosome 7p", "partial trisomy of the short arm of chromosome 7"; "7p duplication", "7p trisomy", "Duplication 7p", "chromosome 7p duplication", "partial trisomy 7p", "trisomy 7p"; "Orphanet:262749"; , ; rdfs:label "Partial duplication of the short arm of chromosome 7" . _:c60bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."; "GARD:0005355" . _:c60cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005355"; "MONDO:equivalentTo" . _:c60dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537819"; "MONDO:equivalentTo" . _:c60ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0795820"; "GARD:0005355", "MONDO:equivalentTo" . _:c60fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of chromosome 7p"; "Orphanet:262749" . _:c611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of the short arm of chromosome 7"; rdfs:comment "preferred label from MONDO" . _:c612d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of the short arm of chromosome type 7"; "MONDORULE:1", "Orphanet:262749" . _:c614d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy of chromosome 7p"; "Orphanet:262749" . _:c615d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy of the short arm of chromosome 7"; "Orphanet:262749" . _:c617d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "7p duplication"; "GARD:0005355" . _:c61ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "7p trisomy"; "GARD:0005355" . _:c61cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duplication 7p"; "GARD:0005355" . _:c61ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 7p duplication"; "GARD:0005355" . _:c61fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy 7p"; "GARD:0005355" . _:c620d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy 7p"; "GARD:0005355" . _:c621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262749" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016948"; "Partial duplication of chromosome 11p", "Partial trisomy of chromosome 11p", "Partial trisomy of the short arm of chromosome 11", "partial duplication of chromosome 11p", "partial duplication of the short arm of chromosome 11", "partial duplication of the short arm of chromosome type 11", "partial trisomy of chromosome 11p", "partial trisomy of the short arm of chromosome 11"; "Orphanet:262785"; ; rdfs:label "Partial duplication of the short arm of chromosome 11" . _:c626d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of chromosome 11p"; "Orphanet:262785" . _:c627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of the short arm of chromosome 11"; rdfs:comment "preferred label from MONDO" . _:c628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of the short arm of chromosome type 11"; "MONDORULE:2", "Orphanet:262785" . _:c629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy of chromosome 11p"; "Orphanet:262785" . _:c62ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy of the short arm of chromosome 11"; "Orphanet:262785" . _:c62bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262785" . a owl:Class; rdfs:subClassOf ; "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra ( duplicate ) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell . The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."; , , ; "GARD:0005314", "MESH:C538040", "MONDO:0016965", "UMLS:C0795858"; "Partial duplication of chromosome 15q", "Partial trisomy of chromosome 15q", "Partial trisomy of the long arm of chromosome 15", "partial duplication of chromosome 15q", "partial duplication of the long arm of chromosome 15", "partial duplication of the long arm of chromosome type 15", "partial trisomy of chromosome 15q", "partial trisomy of the long arm of chromosome 15"; "15q duplication", "15q trisomy", "Duplication 15q", "chromosome 15q duplication", "partial trisomy 15q", "trisomy 15q"; "Orphanet:262950"; , ; rdfs:label "Partial duplication of the long arm of chromosome 15" . _:c62fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra ( duplicate ) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell . The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."; "GARD:0005314" . _:c630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005314"; "MONDO:equivalentTo" . _:c631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538040"; "MONDO:equivalentTo" . _:c633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0795858"; "GARD:0005314", "MONDO:equivalentTo" . _:c635d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of chromosome 15q"; "Orphanet:262950" . _:c638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of the long arm of chromosome 15"; rdfs:comment "preferred label from MONDO" . _:c63ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial duplication of the long arm of chromosome type 15"; "MONDORULE:2", "Orphanet:262950" . _:c63dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy of chromosome 15q"; "Orphanet:262950" . _:c63fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy of the long arm of chromosome 15"; "Orphanet:262950" . _:c641d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "15q duplication"; "GARD:0005314" . _:c643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "15q trisomy"; "GARD:0005314" . _:c645d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duplication 15q"; "GARD:0005314" . _:c646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 15q duplication"; "GARD:0005314" . _:c647d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial trisomy 15q"; "GARD:0005314" . _:c648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy 15q"; "GARD:0005314" . _:c649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:262950" . a owl:Class; rdfs:subClassOf ; "Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.", "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD."; , ; , , , , , , ; "LGMD"@en; "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD."@en; "orphanet", "orphanet"@en; "DOID:11724", "GARD:0006907", "ICD-10:G71.0", "ICD10:G71.0", "MESH:D049288", "MONDO:0016971", "MSH:D049288", "MeSH:D049288", "NCIT:C84828", "SCTID:78468005", "UMLS:C0270950", "UMLS:C0686353"; "LGMD", "Leyden-Mbius muscular dystrophy", "Leyden-Mobius muscular dystrophy", "erb's muscular dystrophy", "limb girdle muscular dystrophy", "limb-girdle muscular dystrophy"; "Orphanet:263"; , ; rdfs:label "Limb-girdle muscular dystrophy", "Limb-girdle muscular dystrophy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy"^^xsd:anyURI; "ORPHA:263" . _:c64dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD."; "Orphanet:263" . _:c650d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11724"; "MONDO:equivalentTo" . _:c651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006907"; "MONDO:equivalentTo" . _:c652d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid17984; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid17984 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:c654d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:11724", "MONDO:subClassOf", "ORDO:263/inclusion", "ORDO:263/ntbt", "Orphanet:263" . _:c655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D049288"; "DOID:11724", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:263/e", "Orphanet:263" . _:c657d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D049288"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c659d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84828"; "DOID:11724", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:c65ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:78468005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.08" . _:c663d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0270950"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:c664d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0686353"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c665d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0686353"; "DOID:11724", "MONDO:equivalentTo", "NCIT:C84828", "ORDO:263/e", "Orphanet:263" . _:c666d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD"; "Orphanet:263" . _:c668d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leyden-Mbius muscular dystrophy"; "DOID:11724" . _:c66bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leyden-Mobius muscular dystrophy"; "DOID:11724" . _:c66cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erb's muscular dystrophy"; "DOID:11724" . _:c66ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb girdle muscular dystrophy"; "CSP2005:1849-6662", "DOID:11724" . _:c66fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:c672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006907" . _:c674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263" . _:c676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy"^^xsd:anyURI; "GARD:0006907" . a owl:Class; rdfs:subClassOf , , , , ; "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia."; , , ; "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia."@en; "orphanet", "orphanet"@en; "DOID:0050765", "GARD:0010902", "MONDO:0016987", "NCIT:C84926", "UMLS:C0393576"; "neuroacanthocytosis"; "neuroacanthocytosis syndrome"; "Orphanet:263440"; ; rdfs:label "Neuroacanthocytosis", "Neuroacanthocytosis"@en; "ORPHA:263440" . _:c679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia."; "Orphanet:263440" . _:c67ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050765"; "MONDO:equivalentTo" . _:c680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010902"; "MONDO:equivalentTo", "Orphanet-shared" . _:c682d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84926"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.70/1.46" . _:c684d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0393576"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroacanthocytosis"; rdfs:comment "preferred label from MONDO" . _:c687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroacanthocytosis syndrome"; "GARD:0010902" . _:c68ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263440" . a owl:Class; rdfs:subClassOf , ; "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term)."; , , ; "Hyperinsulinemic hypoglycemia due to HNF4A deficiency"@en; "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term)."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0016988", "SCTID:717048002", "UMLS:C4274078"; "Hyperinsulinemic hypoglycemia due to HNF4A deficiency", "hyperinsulinemic hypoglycemia due to HNF4A deficiency", "hyperinsulinism due to HNF4A deficiency"; "Orphanet:263455"; ; rdfs:label "Hyperinsulinism due to HNF4A deficiency", "Hyperinsulinism due to HNF4A deficiency"@en; "ORPHA:263455" . _:c68ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term)."; "Orphanet:263455" . _:c68fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18013; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18013 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:c693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:c695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:263455/attributed", "ORDO:263455/ntbt", "Orphanet:263455" . _:c697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717048002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:c69ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4274078"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:c6a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to HNF4A deficiency"; "Orphanet:263455" . _:c6a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to HNF4A deficiency"; rdfs:comment "preferred label from MONDO" . _:c6a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263455" . a owl:Class; rdfs:subClassOf , , ; "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset."; , , , , , ; "Hyperinsulinemic hypoglycemia due to INSR deficiency"@en, "Hyperinsulinemic hypoglycemia due to insulin receptor deficiency"@en; "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset."@en; "orphanet", "orphanet"@en; "DOID:0070220", "ICD-10:E16.1", "ICD10:E16.1", "MESH:C566494", "MONDO:0012381", "OMIM:609968", "SCTID:721235003", "UMLS:C1864952"; "Hyperinsulinemic hypoglycemia due to INSR deficiency", "Hyperinsulinemic hypoglycemia due to insulin receptor deficiency", "hyperinsulinemic hypoglycemia due to INSR deficiency", "hyperinsulinemic hypoglycemia due to insulin receptor deficiency", "hyperinsulinemic hypoglycemia, familial, type 5", "hyperinsulinism due to INSR deficiency"; "HHF5", "hyperinsulinemic hypoglycemia, familial, 5", "hyperinsulinemic hypoglycemia, familial, 5; HHF5"; "Orphanet:263458"; ; rdfs:label "Hyperinsulinism due to INSR deficiency", "Hyperinsulinism due to INSR deficiency"@en; "ORPHA:263458" . _:c6abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset."; "Orphanet:263458" . _:c6add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070220"; "MONDO:equivalentTo" . _:c6afd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18024; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18024 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:c6b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:c6b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:263458/attributed", "ORDO:263458/ntbt", "Orphanet:263458" . _:c6bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566494"; "MONDO:equivalentTo" . _:c6bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609968"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c6c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609968"; "MONDO:equivalentTo", "ORDO:263458/e", "Orphanet:263458" . _:c6c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721235003"; "MONDO:equivalentTo" . _:c6c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864952"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:609968" . _:c6c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to INSR deficiency"; "Orphanet:263458" . _:c6c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to insulin receptor deficiency"; "Orphanet:263458" . _:c6c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, type 5"; "MONDORULE:1", "OMIM:609968" . _:c6ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to INSR deficiency"; rdfs:comment "preferred label from MONDO" . _:c6f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHF5"; "MONDO:Lexical", "OMIM:609968" . _:c6f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 5"; "MONDO:Lexical", "OMIM:609968" . _:c6f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 5; HHF5"; "OMIM:609968" . _:c6fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263458" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016997"; "hereditary epidermolysis bullosa associated with ocular features"; "Orphanet:263676"; ; rdfs:label "Hereditary epidermolysis bullosa associated with ocular features" . _:c6fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary epidermolysis bullosa associated with ocular features"; rdfs:comment "preferred label from MONDO" . _:c6ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263676" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016998"; "complex chromosomal rearrangement"; "Orphanet:263708"; ; rdfs:label "Complex chromosomal rearrangement" . _:c703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complex chromosomal rearrangement"; rdfs:comment "preferred label from MONDO" . _:c704d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263708" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0016999"; "X chromosome number anomaly"; "Orphanet:263714"; ; rdfs:label "X chromosome number anomaly" . _:c705d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X chromosome number anomaly"; rdfs:comment "preferred label from MONDO" . _:c706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263714" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0017000"; "X chromosome number anomaly with female phenotype"; "Orphanet:263717"; ; rdfs:label "X chromosome number anomaly with female phenotype" . _:c709d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X chromosome number anomaly with female phenotype"; rdfs:comment "preferred label from MONDO" . _:c70ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263717" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0017001"; "X chromosome number anomaly with male phenotype"; "Orphanet:263720"; ; rdfs:label "X chromosome number anomaly with male phenotype" . _:c70cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X chromosome number anomaly with male phenotype"; rdfs:comment "preferred label from MONDO" . _:c70dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263720" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q99.8", "MONDO:0017003"; "Partial monosomy of chromosome X", "partial deletion of chromosome X", "partial deletion of chromosome type X", "partial monosomy of chromosome X"; "Orphanet:263726"; ; rdfs:label "Partial deletion of chromosome X" . _:c712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.8"; "ORDO:263726/attributed", "ORDO:263726/ntbt", "Orphanet:263726" . _:c713d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome X"; rdfs:comment "preferred label from MONDO" . _:c714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome type X"; "MONDORULE:1", "Orphanet:263726" . _:c715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome X"; "Orphanet:263726" . _:c717d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:261811", "Orphanet:263726" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0017005"; "Y chromosome number anomaly"; "Orphanet:263746"; ; rdfs:label "Y chromosome number anomaly" . _:c71ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Y chromosome number anomaly"; rdfs:comment "preferred label from MONDO" . _:c71cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263746" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q98.8", "MONDO:0017006"; "X and Y chromosomal anomaly"; "Orphanet:263749"; ; rdfs:label "X and Y chromosomal anomaly" . _:c71ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q98.8"; "ORDO:263749/attributed", "ORDO:263749/ntbt", "Orphanet:263749" . _:c71fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X and Y chromosomal anomaly"; rdfs:comment "preferred label from MONDO" . _:c721d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263749" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q99.8", "MONDO:0017007"; "Partial deletion of chromosome Xq", "Partial monosomy of chromosome Xq", "Partial monosomy of the short arm of chromosome X", "partial deletion of chromosome Xq", "partial deletion of the long arm of chromosome X", "partial deletion of the long arm of chromosome type X", "partial monosomy of chromosome Xq", "partial monosomy of the long arm of chromosome X"; "Orphanet:263756"; ; rdfs:label "Partial deletion of the long arm of chromosome X" . _:c724d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.8"; "ORDO:263756/attributed", "ORDO:263756/ntbt", "Orphanet:263756" . _:c725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of chromosome Xq"; "Orphanet:263756" . _:c726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome X"; rdfs:comment "preferred label from MONDO" . _:c727d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial deletion of the long arm of chromosome type X"; "MONDORULE:1", "Orphanet:263756" . _:c729d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of chromosome Xq"; "Orphanet:263756" . _:c72bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy of the long arm of chromosome X"; "Orphanet:263756" . _:c72dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:263756" . a owl:Class; rdfs:subClassOf ; "ILD specific to childhood"@en; rdfs:label "Interstitial lung disease specific to childhood"@en; "ORPHA:264656" . a owl:Class; rdfs:subClassOf , , , ; "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure."; , , , ; "Congenital PAP"@en, "Congenital pulmonary alveolar proteinosis"@en; "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure."@en; "orphanet", "orphanet"@en; "GARD:0004582", "ICD-10:J84.0", "ICD10:J84.0", "MESH:C535832", "MONDO:0012580", "OMIM:265120", "OMIM:300770", "OMIM:610913", "OMIM:610921", "OMIM:614370", "OMIMPS:265120", "SCTID:707442002", "UMLS:C2931035"; "Congenital PAP", "congenital PAP", "congenital pulmonary alveolar proteinosis", "hereditary pulmonary alveolar proteinosis", "inborn error of pulmonary surfactant metabolism"; "pulmonary alveolar proteinosis, congenital", "sufactant metabolism dysfunction, pulmonary"; "Orphanet:264675"; , ; rdfs:label "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis"@en; "ORPHA:264675" . _:c72fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure."; "Orphanet:264675" . _:c730d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004582"; "MONDO:equivalentTo" . _:c732d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18070; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18070 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J84.0"; "Attributed"@en . _:c735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J84.0"; "NTBT (narrower term maps to a broader term)"@en . _:c736d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J84.0"; "ORDO:264675/attributed", "ORDO:264675/ntbt", "Orphanet:264675" . _:c737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535832"; "MONDO:equivalentTo" . _:c739d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300770"; "BTNT (broader term maps to a narrower term)"@en . _:c73bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614370"; "BTNT (broader term maps to a narrower term)"@en . _:c73dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:265120"; "MONDO:equivalentTo" . _:c73fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:707442002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:c740d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931035"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931035"; "GARD:0004582", "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "ORDO:264675/e", "Orphanet:264675" . _:c746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital PAP"; "GARD:0004582", "Orphanet:264675" . _:c74bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital pulmonary alveolar proteinosis"; "Orphanet:264675" . _:c74dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary pulmonary alveolar proteinosis"; "MONDO:patterns/hereditary" . _:c74fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary pulmonary alveolar proteinosis"; rdfs:comment "preferred label from MONDO" . _:c750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of pulmonary surfactant metabolism"; "MONDO:cjm" . _:c751d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary alveolar proteinosis, congenital"; "GARD:0004582" . _:c752d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sufactant metabolism dysfunction, pulmonary"; "OMIMPS:265120" . _:c753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:264675" . a owl:Class; rdfs:subClassOf ; "Secondary ILD specific to childhood associated with a systemic disease"@en; rdfs:label "Secondary interstitial lung disease specific to childhood associated with a systemic disease"@en; "ORPHA:264699" . a owl:Class; rdfs:subClassOf ; "Secondary ILD specific to childhood associated with a connective tissue disease"@en; rdfs:label "Secondary interstitial lung disease specific to childhood associated with a connective tissue disease"@en; "ORPHA:264704" . a owl:Class; rdfs:subClassOf ; "Histiocytosis X specific to childhood"@en, "Langerhans cell granulomatosis specific to childhood"@en; rdfs:label "Langerhans cell histiocytosis specific to childhood"@en; "ORPHA:264724" . a owl:Class; rdfs:subClassOf ; "ILD specific to adulthood"@en; rdfs:label "Interstitial lung disease specific to adulthood"@en; "ORPHA:264735" . a owl:Class; rdfs:subClassOf ; "Primary ILD specific to adulthood"@en; rdfs:label "Primary interstitial lung disease specific to adulthood"@en; "ORPHA:264740" . a owl:Class; rdfs:subClassOf ; "Secondary ILD specific to adulthood associated with a systemic disease"@en; rdfs:label "Secondary interstitial lung disease specific to adulthood associated with a systemic disease"@en; "ORPHA:264745" . a owl:Class; rdfs:subClassOf ; "Histiocytosis X specific to adulthood"@en, "Langerhans cell granulomatosis specific to adulthood"@en; rdfs:label "Langerhans cell histiocytosis specific to adulthood"@en; "ORPHA:264750" . a owl:Class; rdfs:subClassOf ; "ILD in childhood and adulthood"@en; rdfs:label "Interstitial lung disease in childhood and adulthood"@en; "ORPHA:264757" . a owl:Class; rdfs:subClassOf ; "Primary ILD in childhood and adulthood"@en; rdfs:label "Primary interstitial lung disease in childhood and adulthood"@en; "ORPHA:264762" . a owl:Class; rdfs:subClassOf ; "Primary ILD in childhood and adulthood due to alveolar vascular disorder"@en; rdfs:label "Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder"@en; "ORPHA:264935" . a owl:Class; rdfs:subClassOf ; "Secondary ILD in childhood and adulthood"@en; rdfs:label "Secondary interstitial lung disease in childhood and adulthood"@en; "ORPHA:264944" . a owl:Class; rdfs:subClassOf ; "Secondary ILD in childhood and adulthood associated with a systemic disease"@en; rdfs:label "Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease"@en; "ORPHA:264949" . a owl:Class; rdfs:subClassOf ; "Histiocytosis X in childhood and adulthood"@en, "Langerhans cell granulomatosis in childhood and adulthood"@en; rdfs:label "Langerhans cell histiocytosis in childhood and adulthood"@en; "ORPHA:264955" . a owl:Class; rdfs:subClassOf ; rdfs:label "Exposure-related interstitial lung disease"@en; "ORPHA:264984" . a owl:Class; rdfs:subClassOf ; "Genetic ILD"; rdfs:label "Genetic interstitial lung disease" . a owl:Class; rdfs:subClassOf , , ; "Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria.", "Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed."; , , , , , ; "LGMD1A"@en, "Limb-girdle muscular dystrophy due to myotilin deficiency"@en; "Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed."@en; "orphanet", "orphanet"@en; "DOID:0110300", "GARD:0010229", "ICD-10:G71.0", "ICD10:G71.0", "MESH:C535906", "MONDO:0008032", "OMIM:159000", "OMIM:609200", "SCTID:719985001", "UMLS:C1834659"; "LGMD1A", "Limb-girdle muscular dystrophy due to myotilin deficiency", "MYOT autosomal dominant limb-girdle muscular dystrophy", "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT", "autosomal dominant limb-girdle muscular dystrophy type 1A", "limb-girdle muscular dystrophy due to myotilin deficiency", "muscular dystrophy limb-girdle type 1A", "proximal muscular dystrophy type 1A"; "LGMD1", "limb-girdle muscular dystrophy type 1A", "muscular dystrophy, limb-girdle, type 1A", "muscular dystrophy, limb-girdle, type 1A; LGMD1A", "muscular dystrophy, proximal, type 1A"; "Orphanet:266"; , ; rdfs:label "Autosomal dominant limb-girdle muscular dystrophy type 1A", "Autosomal dominant limb-girdle muscular dystrophy type 1A"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a"^^xsd:anyURI; "ORPHA:266" . _:c75ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed."; "Orphanet:266" . _:c763d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110300"; "MONDO:equivalentTo" . _:c764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010229"; "MONDO:equivalentTo" . _:c765d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18092; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:c769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:0110300", "MONDO:subClassOf", "ORDO:266/inclusion", "ORDO:266/ntbt", "Orphanet:266" . _:c76bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535906"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c76dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:159000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c76ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:159000"; "DOID:0110300", "GARD:0010229", "MONDO:equivalentTo", "ORDO:266/e", "Orphanet:266" . _:c772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609200"; "NTBT (narrower term maps to a broader term)"@en . _:c774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:719985001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.72" . _:c778d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1834659"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c77ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1834659"; "GARD:0010229", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:159000", "Orphanet:266" . _:c77ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD1A"; "DOID:0110300", "GARD:0010229", "MONDO:Lexical", "OMIM:159000", "Orphanet:266" . _:c77fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYOT autosomal dominant limb-girdle muscular dystrophy"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:c780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT"; "MONDO:design_pattern" . _:c782d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant limb-girdle muscular dystrophy type 1A"; rdfs:comment "preferred label from MONDO" . _:c784d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy due to myotilin deficiency"; "DOID:0110300", "Orphanet:266" . _:c786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy limb-girdle type 1A"; "DOID:0110300" . _:c787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proximal muscular dystrophy type 1A"; "DOID:0110300" . _:c789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD1"; "GARD:0010229", "OMIM:159000" . _:c78ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy type 1A"; "GARD:0010229" . _:c78bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 1A"; "MONDO:Lexical", "OMIM:159000" . _:c78cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 1A; LGMD1A"; "OMIM:159000" . _:c78fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, proximal, type 1A"; "GARD:0010229", "OMIM:159000" . _:c792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:266" . _:c794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a"^^xsd:anyURI; "GARD:0010229" . a owl:Class; rdfs:subClassOf , ; "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients."; , ; "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients."@en; "orphanet"@en; "MONDO:0017044", "UMLS:CN202376"; "adult familial nephronophthisis-spastic quadriparesia syndrome"; "Orphanet:2666"; ; rdfs:label "Adult familial nephronophthisis - spastic quadriparesia", "Adult familial nephronophthisis-spastic quadriparesia syndrome"@en; "ORPHA:2666" . _:c798d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients."; "Orphanet:2666" . _:c79ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202376"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c79cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adult familial nephronophthisis-spastic quadriparesia syndrome"; rdfs:comment "preferred label from MONDO" . _:c79ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2666" . a owl:Class; rdfs:subClassOf , ; "Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive."; , , , , ; "Edwards-Patton-Dilly syndrome"@en; "Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive."@en; "orphanet"@en; "GARD:0003940", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:C536401", "MONDO:0009729", "MSH:C536401", "MeSH:C536401", "OMIM:256120", "SCTID:724093004", "UMLS:C1850553"; "Edwards-Patton-Dilly syndrome", "nephropathy - deafness - hyperparathyroidism syndrome"; "Edwards Patton Dilly syndrome", "nephropathy - deafness - hyperparathyroidism", "nephropathy, deafness, and hyperparathyroidism"; "Orphanet:2668"; , ; rdfs:label "Nephropathy-deafness-hyperparathyroidism syndrome", "Nephropathy-deafness-hyperparathyroidism syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism"^^xsd:anyURI; "ORPHA:2668" . _:c7a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive."; "Orphanet:2668" . _:c7a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003940"; "MONDO:equivalentTo" . _:c7aad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18123; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18123 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:c7add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:c7aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:2668/attributed", "ORDO:2668/ntbt", "Orphanet:2668" . _:c7afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536401"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2668/e", "Orphanet:2668" . _:c7b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536401"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c7b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256120"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c7b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256120"; "GARD:0003940", "MONDO:equivalentTo", "ORDO:2668/e", "Orphanet:2668" . _:c7b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:724093004"; "MONDO:equivalentTo" . _:c7b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850553"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c7bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850553"; "GARD:0003940", "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:256120", "ORDO:2668/e", "Orphanet:2668" . _:c7bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Edwards-Patton-Dilly syndrome"; "Orphanet:2668" . _:c7bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy - deafness - hyperparathyroidism syndrome"; rdfs:comment "preferred label from MONDO" . _:c7bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Edwards Patton Dilly syndrome"; "GARD:0003940" . _:c7c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy - deafness - hyperparathyroidism"; "GARD:0003940" . _:c7c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy, deafness, and hyperparathyroidism"; "OMIM:256120" . _:c7c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2668" . _:c7c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism"^^xsd:anyURI; "GARD:0003940" . a owl:Class; rdfs:subClassOf , , ; "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria."; , , , , , , ; "Microcoria-congenital nephrosis syndrome"@en; "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria."@en; "orphanet"@en; "DOID:0060852", "GARD:0003945", "GARD:0009420", "ICD-10:N04.8", "ICD10:N04.8", "MESH:C537185", "MONDO:0012184", "MSH:C537185", "MeSH:C537185", "NCIT:C128145", "OMIM:609049", "SCTID:723449004", "UMLS:C1836876"; "Microcoria - congenital nephrosis", "Pierson syndrome", "microcoria-congenital nephrosis syndrome"; "microcoria - congenital nephrosis", "microcoria - congenital nephrotic syndrome", "microcoria-congenital nephrotic syndrome"; "Orphanet:2670"; , ; rdfs:label "Pierson syndrome", "Pierson syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome"^^xsd:anyURI; "ORPHA:2670" . _:c7d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria."; "Orphanet:2670" . _:c7d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060852"; "MONDO:equivalentTo" . _:c7d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003945"; "MONDO:relatedTo" . _:c7d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009420"; "MONDO:equivalentTo" . _:c7d8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18145; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18145 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "Attributed"@en . _:c7dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "NTBT (narrower term maps to a broader term)"@en . _:c7dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.8"; "DOID:0060852", "ORDO:2670/attributed", "ORDO:2670/ntbt", "Orphanet:2670" . _:c7ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537185"; "DOID:0060852", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2670/e", "Orphanet:2670" . _:c7e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537185"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c7e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C128145"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:c7ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609049"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c7ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609049"; "DOID:0060852", "MONDO:equivalentTo", "ORDO:2670/e", "Orphanet:2670" . _:c804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:723449004"; "MONDO:equivalentTo" . _:c80ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1836876"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c80bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1836876"; "DOID:0060852", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C128145", "OMIM:609049", "ORDO:2670/e", "Orphanet:2670" . _:c80cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pierson syndrome"; "OMIM:609049" . _:c80dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pierson syndrome"; rdfs:comment "preferred label from MONDO" . _:c80ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcoria-congenital nephrosis syndrome"; "DOID:0060852", "Orphanet:2670" . _:c80fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcoria - congenital nephrosis"; "GARD:0009420" . _:c810d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcoria - congenital nephrotic syndrome"; "GARD:0009420" . _:c811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcoria-congenital nephrotic syndrome"; "OMIM:609049" . _:c812d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009420" . _:c813d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2670" . _:c816d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome"^^xsd:anyURI; "GARD:0009420" . a owl:Class; rdfs:subClassOf , ; "Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafC)-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.", "Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder."; , , , , ; "Familial café-au-lait spots"@en, "Multiple café-au-lait spots"@en, "Multiple café-au-lait syndrome"@en, "NF6"@en; "Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder."@en; "orphanet", "orphanet"@en; "GARD:0001050", "GARD:0003967", "ICD-10:L81.3", "ICD10:L81.3", "MESH:C537421", "MONDO:0007245", "OMIM:114030", "UMLS:C1861975", "UMLS:CN035858"; "Familial café-au-lait spots", "Multiple café-au-lait spots", "Multiple café-au-lait syndrome", "NF6", "familial CAFé-au-lait spots", "familial cafC)-au-lait spots", "multiple CAFé-au-lait spots", "multiple CAFé-au-lait syndrome", "multiple cafC)-au-lait spots", "multiple cafC)-au-lait syndrome", "neurofibromatosis type 6"; "autosomal dominant CAFé au lait spots", "cafe au lait spots, multiple", "cafe-AU-lait SPOTS, multiple", "familial cafeB4-au-lait spots", "familial cafe´-au-lait spots", "multiple cafe-au-lait spots", "multiple cafeB4-au-lait spots", "multiple cafeB4-au-lait syndrome", "multiple cafe´-au-lait spots", "multiple cafe´-au-lait syndrome"; "Orphanet:2678"; , ; rdfs:label "Neurofibromatosis type 6", "Neurofibromatosis type 6"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots"^^xsd:anyURI; "ORPHA:2678" . _:c81ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafC)-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder."; "Orphanet:2678" . _:c820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001050"; "MONDO:equivalentTo" . _:c822d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003967"; "MONDO:equivalentTo" . _:c823d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L81.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c825d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18170; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18170 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L81.3"; "Specific code (The term has its own code in the ICD10)"@en . _:c827d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L81.3"; "ORDO:2678/e", "ORDO:2678/specific", "Orphanet:2678" . _:c82ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537421"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c82dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:114030"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c82fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:114030"; "GARD:0001050", "GARD:0003967", "MONDO:equivalentTo", "ORDO:2678/e", "Orphanet:2678" . _:c832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1861975"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c834d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1861975"; "GARD:0001050", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:114030", "ORDO:2678/e", "Orphanet:2678" . _:c837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN035858"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:c839d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NF6"; "GARD:0003967", "Orphanet:2678" . _:c83cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial CAFé-au-lait spots"; "Orphanet:2678" . _:c83ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cafC)-au-lait spots"; "Orphanet:2678" . _:c83fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple CAFé-au-lait spots"; "Orphanet:2678" . _:c841d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple CAFé-au-lait syndrome"; "Orphanet:2678" . _:c850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cafC)-au-lait spots"; "Orphanet:2678" . _:c851d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cafC)-au-lait syndrome"; "Orphanet:2678" . _:c852d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 6"; "GARD:0003967" . _:c855d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 6"; rdfs:comment "preferred label from MONDO" . _:c856d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant CAFé au lait spots"; "GARD:0003967" . _:c857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cafe au lait spots, multiple"; "GARD:0001050" . _:c858d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cafe-AU-lait SPOTS, multiple"; "OMIM:114030" . _:c859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cafeB4-au-lait spots"; "GARD:0003967" . _:c85cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cafe´-au-lait spots"; "GARD:0003967" . _:c85ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cafe-au-lait spots"; "GARD:0001050" . _:c860d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cafeB4-au-lait spots"; "GARD:0003967" . _:c862d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cafeB4-au-lait syndrome"; "GARD:0003967" . _:c863d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cafe´-au-lait spots"; "GARD:0003967" . _:c866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cafe´-au-lait syndrome"; "GARD:0003967" . _:c868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003967" . _:c869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2678" . _:c86bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots"^^xsd:anyURI; "GARD:0003967" . a owl:Class; rdfs:subClassOf , , ; "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved.", "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."; ; , , , , , ; "LGMD2B"@en, "Limb-girdle muscular dystrophy due to dysferlin deficiency"@en; "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."@en; "orphanet", "orphanet"@en; "DOID:0110276", "GARD:0008574", "ICD-10:G71.0", "ICD10:G71.0", "MESH:C535899", "MONDO:0009676", "NCIT:C142080", "OMIM:253601", "SCTID:718179003", "UMLS:C1850889"; "DYSF autosomal recessive limb-girdle muscular dystrophy", "LGMD2B", "LGMD3", "Limb-girdle muscular dystrophy due to dysferlin deficiency", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF", "autosomal recessive limb-girdle muscular dystrophy type 2B", "limb-girdle muscular dystrophy due to dysferlin deficiency", "limb-girdle muscular dystrophy type 2B", "limb-girdle muscular dystrophy type 3"; "limb-girdle muscular dystrophy, type 2B", "muscular dystrophy, limb-girdle, type 2B", "muscular dystrophy, limb-girdle, type 2B; LGMD2B", "muscular dystrophy, limb-girdle, type 3"; "Orphanet:268"; ; rdfs:label "Autosomal recessive limb-girdle muscular dystrophy type 2B", "Autosomal recessive limb-girdle muscular dystrophy type 2B"@en; "ORPHA:268" . _:c870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."; "Orphanet:268" . _:c871d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110276"; "MONDO:equivalentTo" . _:c872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008574"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:c873d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18204; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18204 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:c875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:0110276", "MONDO:subClassOf", "ORDO:268/inclusion", "ORDO:268/ntbt", "Orphanet:268" . _:c876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535899"; "MONDO:equivalentTo", "MONDO:ontobio" . _:c878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C142080"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:c87cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253601"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c87dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253601"; "DOID:0110276", "MONDO:equivalentTo", "ORDO:268/e", "Orphanet:268" . _:c880d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718179003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.69" . _:c881d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850889"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYSF autosomal recessive limb-girdle muscular dystrophy"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:c885d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD2B"; "DOID:0110276", "MONDO:Lexical", "OMIM:253601", "Orphanet:268" . _:c887d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD3"; "DOID:0110276" . _:c88cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF"; "MONDO:design_pattern" . _:c88dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive limb-girdle muscular dystrophy type 2B"; rdfs:comment "preferred label from MONDO" . _:c88ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy due to dysferlin deficiency"; "DOID:0110276", "Orphanet:268" . _:c890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy type 2B"; "NCIT:C142080" . _:c892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy type 3"; "DOID:0110276" . _:c893d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy, type 2B"; "GARD:0008574" . _:c895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 2B"; "MONDO:Lexical", "OMIM:253601" . _:c897d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 2B; LGMD2B"; "OMIM:253601" . _:c899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 3"; "OMIM:253601" . _:c89cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:268" . a owl:Class; rdfs:subClassOf ; "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia."; , , , , ; "RALD"@en; "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia."@en; "orphanet", "orphanet"@en; "DOID:0110117", "ICD-10:D72.8", "ICD10:D72.8", "MONDO:0013767", "OMIM:614470", "SCTID:723508002", "UMLS:C2674723"; "ALPS type 4", "ALPS type IV", "ALPS4", "Autoimmune lymphoproliferative syndrome type 4", "Autoimmune lymphoproliferative syndrome type IV", "NRAS autoimmune lymphoproliferative syndrome", "RALD", "RAS-associated autoimmune leukoproliferative disease", "RAS-associated autoimmune leukoproliferative disorder", "autoimmune lymphoproliferative syndrome caused by mutation in NRAS", "autoimmune lymphoproliferative syndrome type 4", "autoimmune lymphoproliferative syndrome type IV"; "RAS-associated autoimmune leukoproliferative disorder; RALD", "autoimmune lymphoproliferative syndrome, type 4"; "Orphanet:268114"; ; rdfs:label "RAS-associated autoimmune leukoproliferative disease", "RAS-associated autoimmune leukoproliferative disease"@en; "ORPHA:268114" . _:c8a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia."; "Orphanet:268114" . _:c8a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110117"; "MONDO:equivalentTo" . _:c8a6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18229; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18229 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D72.8"; "Attributed"@en . _:c8a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D72.8"; "NTBT (narrower term maps to a broader term)"@en . _:c8aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D72.8"; "DOID:0110117", "ORDO:268114/attributed", "ORDO:268114/ntbt", "Orphanet:268114" . _:c8abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614470"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c8acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614470"; "DOID:0110117", "MONDO:equivalentTo", "ORDO:268114/e", "Orphanet:268114" . _:c8add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:723508002"; "MONDO:equivalentTo" . _:c8aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2674723"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614470" . _:c8afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPS type 4"; "DOID:0110117", "Orphanet:268114" . _:c8b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPS type IV"; "DOID:0110117", "Orphanet:268114" . _:c8b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPS4"; "DOID:0110117" . _:c8b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NRAS autoimmune lymphoproliferative syndrome"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:c8b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RALD"; "DOID:0110117", "MONDO:Lexical", "OMIM:614470", "Orphanet:268114" . _:c8b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RAS-associated autoimmune leukoproliferative disease"; "DOID:0110117" . _:c8b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RAS-associated autoimmune leukoproliferative disorder"; "DOID:0110117", "MONDO:Lexical", "OMIM:614470" . _:c8b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome caused by mutation in NRAS"; "MONDO:design_pattern" . _:c8b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome type 4"; "Orphanet:268114" . _:c8b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome type 4"; rdfs:comment "preferred label from MONDO" . _:c8b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome type IV"; "DOID:0110117", "Orphanet:268114" . _:c8bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RAS-associated autoimmune leukoproliferative disorder; RALD"; "OMIM:614470" . _:c8bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome, type 4"; "OMIM:614470" . _:c8bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:268114" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of neural tube closure."; ; "MONDO:0017059", "OMIM:182940", "OMIM:301410", "OMIM:601634"; "disorder of neural tube closure", "neural tube closure defect", "neural tube closure disease"; "disorder of neural tube closure"; "Orphanet:268357"; ; rdfs:label "Neural tube closure defect", "Neural tube closure defect"@en; "ORPHA:268357" . _:c8bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of neural tube closure."; "MONDO:design_pattern" . _:c8c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:182940"; "BTNT (broader term maps to a narrower term)"@en . _:c8c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301410"; "BTNT (broader term maps to a narrower term)"@en . _:c8c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601634"; "BTNT (broader term maps to a narrower term)"@en . _:c8c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of neural tube closure"; "MONDO:design_pattern", "MONDO:patterns/basis_in_disruption_of_process" . _:c8c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neural tube closure defect"; rdfs:comment "preferred label from MONDO" . _:c8cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neural tube closure disease"; "MONDO:design_pattern" . _:c8cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of neural tube closure"; "MONDO:patterns/basis_in_disruption_of_process" . _:c8ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:268357" . a owl:Class; rdfs:subClassOf , ; "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever."; , ; , , , , , , , ; "COHD:432297", "DOID:5339", "GARD:0006229", "ICD-10:D70", "ICD10:D70", "ICD10:D70.4", "ICD9:288.02", "MESH:C536227", "MONDO:0008090", "MSH:C536227", "MeSH:C536227", "MedDRA:10053176", "NCIT:C3820", "OMIM:162800", "SCTID:191347008", "UMLS:C0221023"; "CH", "CN", "cyclic agranulocytosis", "cyclic hematopoiesis", "cyclical neutropenia", "dysplasia, myelocytic periodic", "neutropenia, periodic", "periodic neutropenia"; "cyclic neutropenia", "neutropenia cyclic"; "Orphanet:2686"; ; rdfs:label "Cyclic neutropenia", "Cyclic neutropenia"@en; "ORPHA:2686" . _:c8d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever."; "NCIT:P378" . _:c8d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:432297"; "MONDO:equivalentTo" . _:c8d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5339"; "MONDO:equivalentTo" . _:c8d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006229"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:c8dbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18264; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18264 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c8ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:c8dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70"; "MONDO:subClassOf", "ORDO:2686/inclusion", "ORDO:2686/ntbt", "Orphanet:2686" . _:c8e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70.4"; "DOID:5339" . _:c8e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:288.02"; "DOID:5339", "MONDO:equivalentTo", "i2s" . _:c8e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536227"; "DOID:5339", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2686/e", "Orphanet:2686" . _:c8eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536227"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c8efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053176"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c8f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053176"; "ORDO:2686/e", "Orphanet:2686" . _:c8f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3820"; "DOID:5339", "MONDO:equivalentTo" . _:c8f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c8f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162800"; "DOID:5339", "MONDO:equivalentTo", "ORDO:2686/e", "Orphanet:2686" . _:c8f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:191347008"; "DOID:5339", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:c8f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221023"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c8fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CH"; "NCIT:C3820" . _:c8fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CN"; "NCIT:C3820" . _:c8fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cyclic agranulocytosis"; "DOID:5339" . _:c900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cyclic hematopoiesis"; "DOID:5339", "NCIT:C3820", "OMIM:162800" . _:c902d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cyclic hematopoiesis"; rdfs:comment "preferred label from MONDO" . _:c904d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cyclical neutropenia"; "DOID:5339" . _:c906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysplasia, myelocytic periodic"; "NCIT:C3820" . _:c908d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia, periodic"; "DOID:5339", "MTHICD9_2006:288.0" . _:c90ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodic neutropenia"; "NCIT:C3820" . _:c90cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cyclic neutropenia"; "OMIM:162800" . _:c90fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia cyclic"; "GARD:0006229" . _:c911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2686" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0017085"; "malformation of the neurenteric canal, spinal cord and column"; "Orphanet:268843"; ; rdfs:label "Malformation of the neurenteric canal, spinal cord and column" . _:c917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malformation of the neurenteric canal, spinal cord and column"; rdfs:comment "preferred label from MONDO" . _:c918d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:268843" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:Q04.8", "MONDO:0017090"; "Midline brain malformation", "midline cerebral malformation"; "Orphanet:268926"; ; rdfs:label "Midline cerebral malformation" . _:c919d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.8"; "ORDO:268926/attributed", "ORDO:268926/ntbt", "Orphanet:268926" . _:c937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Midline brain malformation"; "Orphanet:268926" . _:c939d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "midline cerebral malformation"; rdfs:comment "preferred label from MONDO" . _:c93cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:268926" . a owl:Class; rdfs:subClassOf , ; "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.", "Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles."; ; , , , , , , ; "FSH dystrophy"@en, "FSHD"@en, "Facioscapulohumeral muscular dystrophy"@en, "Facioscapulohumeral myopathy"@en, "Landouzy-Dejerine myopathy"@en; "Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles."@en; "orphanet", "orphanet"@en; "DOID:11727", "ICD-10:G71.0", "ICD10:G71.0", "MESH:D020391", "MONDO:0001347", "MedDRA:10064087", "NCIT:C84704", "OMIM:158900", "OMIM:158901", "OMIM:600416", "SCTID:399091004", "UMLS:C0238288"; "FSH dystrophy", "FSHD", "Facioscapulohumeral muscular dystrophy", "Facioscapulohumeral myopathy", "Landouzy Dejerine muscular dystrophy", "Landouzy-Dejerine muscular dystrophy", "Landouzy-Dejerine myopathy", "facioscapulohumeral dystrophy", "facioscapulohumeral muscular dystrophy", "facioscapulohumeral myopathy", "muscular dystrophy, Landouzy-Dejerine"; "Orphanet:269"; ; rdfs:label "Facioscapulohumeral dystrophy", "Facioscapulohumeral dystrophy"@en; "ORPHA:269" . _:c947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well."; "NCIT:P378" . _:c948d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11727"; "MONDO:equivalentTo" . _:c949d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18299; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18299 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c94ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:c94fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:11727", "MONDO:subClassOf", "ORDO:269/inclusion", "ORDO:269/ntbt", "Orphanet:269" . _:c951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020391"; "DOID:11727", "MONDO:equivalentTo" . _:c953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064087"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c955d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064087"; "ORDO:269/e", "Orphanet:269" . _:c957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84704"; "DOID:11727", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.79/0.20" . _:c95ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:158900"; "BTNT (broader term maps to a narrower term)"@en . _:c960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:158901"; "BTNT (broader term maps to a narrower term)"@en . _:c961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600416"; "BTNT (broader term maps to a narrower term)"@en . _:c963d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:399091004"; "DOID:11727", "MONDO:equivalentTo" . _:c964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238288"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FSH dystrophy"; "Orphanet:269" . _:c966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FSHD"; "Orphanet:269" . _:c968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Landouzy Dejerine muscular dystrophy"; "CSP2005:1849-6662", "DOID:11727" . _:c96ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Landouzy-Dejerine muscular dystrophy"; "DOID:11727" . _:c96cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Landouzy-Dejerine myopathy"; "Orphanet:269" . _:c96ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "facioscapulohumeral dystrophy"; "MONDO:0017099" . _:c970d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "facioscapulohumeral muscular dystrophy"; "Orphanet:269" . _:c975d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "facioscapulohumeral muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:c976d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "facioscapulohumeral myopathy"; "Orphanet:269" . _:c977d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, Landouzy-Dejerine"; "DOID:11727", "MTHICD9_2006:359.1" . _:c978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:269" . a owl:Class; rdfs:subClassOf , ; , ; , ; "MONDO:0017103", "UMLS:CN227080"; "encephaloclastic disorder"; "Orphanet:269190"; ; rdfs:label "Encephaloclastic disorder" . _:c97ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDO:Redundant", "Orphanet:269190", "Orphanet:269190/inferred" . _:c97cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDO:Redundant", "Orphanet:269190", "Orphanet:269190/inferred" . _:c97ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227080"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c980d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephaloclastic disorder"; rdfs:comment "preferred label from MONDO" . _:c982d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:269190" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017119", "UMLS:CN202469"; "syndrome with microcephaly as major feature"; "Orphanet:269528"; ; rdfs:label "Syndrome with microcephaly as major feature" . _:c985d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202469"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c988d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with microcephaly as major feature"; rdfs:comment "preferred label from MONDO" . _:c98cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:269528" . a owl:Class; rdfs:subClassOf , ; "A central nervous system malformation that is not part of a larger syndrome."; ; "Orphanet:108989"; "isolated central nervous system malformation", "non-syndromic central nervous system malformation", "nonsyndromic central nervous system malformation"; "isolated central nervous system malformation"; "Orphanet:269550"; ; rdfs:comment "Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58"; rdfs:label "Genetic non-syndromic central nervous system malformation", "Genetic non-syndromic central nervous system malformation"@en; "ORPHA:269550" . _:c992d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A central nervous system malformation that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:c995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:108989"; "MONDO:equivalentTo" . _:c996d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic central nervous system malformation"; rdfs:comment "preferred label from MONDO" . _:c997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic central nervous system malformation"; "MONDO:DesignPattern", "MONDO:patterns/isolated" . _:c998d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated central nervous system malformation"; "MONDO:DesignPattern" . _:c999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108989" . a owl:Class; rdfs:subClassOf ; "Genetic brain malformation"; rdfs:label "Genetic cerebral malformation" . a owl:Class; rdfs:subClassOf ; ; ; "Orphanet:98519"; "posterior fossa malformation"; "Orphanet:269557"; ; rdfs:label "Genetic posterior fossa malformation" . _:c99ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98519" . _:c99bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98519"; "MONDO:equivalentTo" . _:c99dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "posterior fossa malformation"; rdfs:comment "preferred label from MONDO" . _:c99ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98519" . a owl:Class; rdfs:subClassOf ; ; "Orphanet:182061"; "cerebellar malformation"; "Orphanet:269560"; ; rdfs:label "Genetic cerebellar malformation" . _:c9a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:182061"; "MONDO:equivalentTo" . _:c9a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar malformation"; rdfs:comment "preferred label from MONDO" . _:c9a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:182061" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:108991", "UMLS:CN197562"; "syndrome with a central nervous system malformation as major feature"; "Orphanet:269564"; ; rdfs:label "Genetic syndrome with a central nervous system malformation as major feature" . _:c9a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:108991"; "MONDO:equivalentTo" . _:c9aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197562"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c9abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with a central nervous system malformation as major feature"; rdfs:comment "preferred label from MONDO" . _:c9acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108991" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:269523", "UMLS:CN202468"; "syndrome with a cerebellar malformation as major feature"; "Orphanet:269567"; ; rdfs:label "Genetic syndrome with a cerebellar malformation as major feature" . _:c9afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:269523"; "MONDO:equivalentTo" . _:c9b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202468"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c9b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with a cerebellar malformation as major feature"; rdfs:comment "preferred label from MONDO" . _:c9b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:269523" . a owl:Class; rdfs:subClassOf ; , ; "Orphanet:269546", "UMLS:CN202471"; "syndrome with a Dandy-Walker malformation as major feature"; "Orphanet:269570"; ; rdfs:label "Genetic syndrome with a Dandy-Walker malformation as major feature" . _:c9bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:269546"; "MONDO:equivalentTo" . _:c9bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202471"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c9bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with a Dandy-Walker malformation as major feature"; rdfs:comment "preferred label from MONDO" . _:c9c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:269546" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017122", "UMLS:CN202475"; "genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature"; "Orphanet:269573"; , ; rdfs:label "Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:c9c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202475"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:c9c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature"; rdfs:comment "preferred label from MONDO" . _:c9c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:269573" . a owl:Class; rdfs:subClassOf , , , , , ; "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity."; , , , , ; "ARC syndrome"@en; "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity."@en; "orphanet", "orphanet"@en; "DOID:0050763", "GARD:0000794", "ICD-10:Q89.7", "ICD10:Q89.7", "MESH:C535382", "MONDO:0017123", "MSH:C535382", "MeSH:C535382", "OMIM:208085", "OMIM:613404", "OMIMPS:208085", "SCTID:720513002", "UMLS:C1859722"; "ARC syndrome", "arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome", "arthrogryposis, renal dysfunction, and cholestasis", "arthrogryposis-renal dysfunction-cholestasis", "arthrogryposis-renal dysfunction-cholestasis syndrome"; "arthrogryposis - renal dysfunction - cholestasis", "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis", "arthrogryposis renal dysfunction cholestasis syndrome"; "Orphanet:2697"; ; rdfs:label "Arthrogryposis - renal dysfunction - cholestasis", "Arthrogryposis-renal dysfunction-cholestasis syndrome"@en; "ORPHA:2697" . _:c9cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity."; "Orphanet:2697" . _:c9cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050763"; "MONDO:equivalentTo" . _:c9cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000794"; "MONDO:equivalentTo", "Orphanet-shared" . _:c9d0d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18362; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q89.7"; "Attributed"@en . _:c9d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q89.7"; "NTBT (narrower term maps to a broader term)"@en . _:c9d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q89.7"; "ORDO:2697/attributed", "ORDO:2697/ntbt", "Orphanet:2697" . _:c9d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535382"; "MONDO:equivalentTo", "ORDO:2697/e", "Orphanet:2697" . _:c9d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535382"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c9d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:208085"; "BTNT (broader term maps to a narrower term)"@en . _:c9dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613404"; "BTNT (broader term maps to a narrower term)"@en . _:c9ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:208085"; "MONDO:cjm", "MONDO:equivalentTo" . _:c9e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:720513002"; "MONDO:equivalentTo" . _:c9e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1859722"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c9e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARC syndrome"; "MONDO:0000444", "Orphanet:2697" . _:c9e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome"; "DOID:0050763" . _:c9e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis, renal dysfunction, and cholestasis"; "DOID:0050763" . _:c9e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis-renal dysfunction-cholestasis"; "DOID:0050763" . _:c9e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis-renal dysfunction-cholestasis syndrome"; rdfs:comment "preferred label from MONDO" . _:c9ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis - renal dysfunction - cholestasis"; "GARD:0000794" . _:c9edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis"; "GARD:0000794" . _:c9efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrogryposis renal dysfunction cholestasis syndrome"; "GARD:0000794" . _:c9f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2697" . a owl:Class; rdfs:subClassOf , , ; " (see these terms)."; "Methylmalonyl-CoA mutase deficiency"@en, "Methylmalonyl-Coenzyme A mutase deficiency"@en, "Vitamin B12-unresponsive methylmalonic aciduria"@en; "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms)."@en; "orphanet", "orphanet"@en; "ICD-10:E71.1", "ICD10:E71.1", "OMIM:251000", "UMLS:C1855114"; "Vitamin B12-unresponsive methylmalonic aciduria"; rdfs:label "Vitamin B12-unresponsive methylmalonic acidemia", "Vitamin B12-unresponsive methylmalonic acidemia"@en; "ORPHA:27" . _:c9f4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18382; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:c9f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "NTBT (narrower term maps to a broader term)"@en . _:c9f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:c9f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855114"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays.", "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays."; , , , , , ; "NS/LAH"@en, "Tosti syndrome"@en; "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays."@en; "orphanet", "orphanet"@en; "GARD:0010719", "ICD-10:Q87.1", "ICD10:Q87.1", "MESH:C564342", "MONDO:0011899", "OMIM:607721", "OMIM:617506", "OMIMPS:607721", "SCTID:723444009", "UMLS:C1843181", "UMLS:C3501846"; "NS/LAH", "Noonan syndrome-like disorder with loose anagen hair", "Tosti syndrome"; "NSLH", "NSLH1", "Noonan syndrome-like disorder with loose anagen hair 1", "Noonan syndrome-like disorder with loose anagen hair 1; NSLH1", "Noonan syndrome-like disorder with loose anagen hair; NSLH", "Noonan-like syndrome with loose anagen hair"; "Orphanet:2701"; , , ; rdfs:label "Noonan syndrome-like disorder with loose anagen hair", "Noonan syndrome-like disorder with loose anagen hair"@en; "ORPHA:2701" . _:c9f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays."; "Orphanet:2701" . _:c9f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010719"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:c9fbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18389; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18389 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:c9ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:ca00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:2701/attributed", "ORDO:2701/ntbt", "Orphanet:2701" . _:ca03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564342"; "MONDO:equivalentTo" . _:ca04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607721"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ca07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617506"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ca08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617506"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ca0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:607721"; "MONDO:cjm", "MONDO:equivalentTo" . _:ca0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:723444009"; "MONDO:equivalentTo" . _:ca0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1843181"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:607721" . _:ca12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3501846"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ca13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3501846"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "Orphanet:2701" . _:ca15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NS/LAH"; "Orphanet:2701" . _:ca19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome-like disorder with loose anagen hair"; "MONDO:Lexical", "OMIM:607721" . _:ca1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome-like disorder with loose anagen hair"; rdfs:comment "preferred label from MONDO" . _:ca1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tosti syndrome"; "OMIM:607721", "Orphanet:2701" . _:ca20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSLH"; "MONDO:Lexical", "OMIM:607721" . _:ca22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSLH1"; "OMIM:607721" . _:ca23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome-like disorder with loose anagen hair 1"; "OMIM:607721" . _:ca25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome-like disorder with loose anagen hair 1; NSLH1"; "OMIM:607721" . _:ca27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome-like disorder with loose anagen hair; NSLH"; "OMIM:607721" . _:ca29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan-like syndrome with loose anagen hair"; "GARD:0010719" . _:ca2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2701" . a owl:Class; rdfs:subClassOf , , ; "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression."; , , , , ; "Hydronephrosis-inverted smile syndrome"@en, "Inverted smile-neurogenic bladder syndrome"@en, "Partial facial palsy with urinary abnormalities"@en, "Urofacial syndrome"@en; "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression."@en; "orphanet"@en; "DOID:0050816", "GARD:0000104", "ICD-10:N31.8", "ICD10:N31.8", "MESH:C536480", "MONDO:0000463", "MSH:C536480", "MeSH:C536480", "OMIM:236730", "OMIM:615112", "OMIMPS:236730", "SCTID:236533008", "UMLS:C0403555"; "Hydronephrosis - inverted smile", "Inverted smile - neurogenic bladder", "Ochoa syndrome", "Partial facial palsy with urinary abnormalities", "Urofacial syndrome", "hydronephrosis with peculiar facial expression", "hydronephrosis-inverted smile syndrome", "inverted smile-neurogenic bladder syndrome", "partial facial palsy with urinary abnormalities", "urofacial syndrome"; "UFS", "inverted smile and occult neuropathic bladder", "urofacial Ochoa's syndrome"; "Orphanet:2704"; , ; rdfs:label "Ochoa syndrome", "Ochoa syndrome"@en; "ORPHA:2704" . _:ca3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression."; "Orphanet:2704" . _:ca3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050816"; "MONDO:equivalentTo" . _:ca3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000104"; "MONDO:equivalentTo" . _:ca3fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18416; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18416 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N31.8"; "Attributed"@en . _:ca41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N31.8"; "NTBT (narrower term maps to a broader term)"@en . _:ca43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N31.8"; "ORDO:2704/attributed", "ORDO:2704/ntbt", "Orphanet:2704" . _:ca44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536480"; "MONDO:equivalentTo", "ORDO:2704/e", "Orphanet:2704" . _:ca45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536480"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ca5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236730"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ca60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615112"; "BTNT (broader term maps to a narrower term)"@en . _:ca62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:236730"; "MONDO:cjm", "MONDO:equivalentTo" . _:ca63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:236533008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.67/1.64" . _:ca67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0403555"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ca68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ochoa syndrome"; "DOID:0050816", "Orphanet:2704" . _:ca69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ochoa syndrome"; rdfs:comment "preferred label from MONDO" . _:ca6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydronephrosis with peculiar facial expression"; "DOID:0050816" . _:ca6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydronephrosis-inverted smile syndrome"; "Orphanet:2704" . _:ca6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inverted smile-neurogenic bladder syndrome"; "Orphanet:2704" . _:ca70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial facial palsy with urinary abnormalities"; "GARD:0000104", "Orphanet:2704" . _:ca71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urofacial syndrome"; "Orphanet:2704" . _:ca73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UFS"; "GARD:0000104" . _:ca74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inverted smile and occult neuropathic bladder"; "GARD:0000104" . _:ca76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urofacial Ochoa's syndrome"; "GARD:0000104" . _:ca77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2704" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017128", "UMLS:CN202527"; "inherited digestive tract tumor"; "genetic digestive tract tumor"; "Orphanet:271835"; ; rdfs:label "Genetic digestive tract tumor" . _:ca7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202527"; "MONDO:equivalentTo" . _:ca7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited digestive tract tumor"; rdfs:comment "preferred label from MONDO" . _:ca7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic digestive tract tumor"; "Orphanet:271835" . _:ca80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:271835" . a owl:Class; rdfs:subClassOf , ; "An instance of heart cancer that is caused by a modification of the individual's genome."; , ; "MONDO:0017129", "UMLS:CN202528"; "genetic heart tumor", "hereditary heart neoplasm", "inherited cardiac tumor"; "genetic cardiac tumor"; "Orphanet:271841"; ; rdfs:label "Genetic cardiac tumor" . _:ca85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of heart cancer that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:ca87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202528"; "MONDO:equivalentTo" . _:ca89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic heart tumor"; "Orphanet:271841" . _:ca8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary heart neoplasm"; "MONDO:patterns/hereditary" . _:ca8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited cardiac tumor"; rdfs:comment "preferred label from MONDO" . _:ca8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic cardiac tumor"; "Orphanet:271841" . _:ca8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:271841" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Genetic urogenital tumor" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Genetic endocrine tumor", "Genetic neuroendocrine tumor"@en; "ORPHA:271847" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0017131", "OMIM:600309", "OMIM:606217", "OMIM:607941", "OMIM:611363", "OMIM:612794", "OMIM:613087", "OMIM:614089", "OMIM:614430", "OMIM:614433", "OMIM:614474"; "genetic cardiac anomaly"; "Orphanet:271853"; ; rdfs:label "Genetic cardiac anomaly" . _:ca92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic cardiac anomaly"; rdfs:comment "preferred label from MONDO" . _:ca94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:271853" . a owl:Class; rdfs:subClassOf ; "Gautier Koscielny"; , ; "DOID:0050638", "MONDO:0017132", "OMIM:105210", "UMLS:CN227096"; "Amyloidosis, hereditary, transthyretin-related", "Familial TTR-related amyloidosis", "Hereditary ATTR amyloidosis", "familial TTR-related amyloidosis", "familial transthyretin-related amyloidosis", "hereditary ATTR amyloidosis", "transthyretin amyloidosis"; "Orphanet:271861"; ; rdfs:label "Familial transthyretin-related amyloidosis" . _:ca99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ca9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050638"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ca9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:105210"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ca9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227096"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:ca9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Amyloidosis, hereditary, transthyretin-related"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:caa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial TTR-related amyloidosis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:caa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary ATTR amyloidosis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:caa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial TTR-related amyloidosis"; "Orphanet:271861" . _:caa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial transthyretin-related amyloidosis"; "Orphanet:271861" . _:caa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary ATTR amyloidosis"; rdfs:comment "preferred label from MONDO" . _:caa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transthyretin amyloidosis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:caa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:271861" . a owl:Class; rdfs:subClassOf , , ; "An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome."; , ; "MONDO:0017133", "UMLS:CN202531"; "genetic systemic or rheumatologic disease", "hereditary systemic or rheumatic disease"; "Orphanet:271870"; ; rdfs:label "Rare genetic systemic or rheumatologic disease", "Rare genetic systemic or rheumatologic disease"@en; "ORPHA:271870" . _:caafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:cab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202531"; "MONDO:equivalentTo" . _:cab1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic systemic or rheumatologic disease"; rdfs:comment "preferred label from MONDO" . _:cab2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary systemic or rheumatic disease"; "MONDO:patterns/hereditary" . _:cab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:271870" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness."; , , ; , , , , , ; "DM1"@en, "MD1"@en, "Myotonic dystrophy type 1"@en, "Steinert disease"@en; "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness."@en; "orphanet"@en; "DOID:11722", "GARD:0008310", "ICD-10:G71.1", "ICD10:G71.1", "ICD10:G71.11", "ICD9:359.21", "MONDO:0008056", "MSH:C538008", "MeSH:C538008", "NCIT:C84679", "OMIM:160900", "UMLS:C2931688"; "DM1", "DMPK myotonic dystrophy", "MD1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy syndrome", "Steinert syndrome", "congenital myotonic dystrophy", "dystrophia myotonica", "myotonic dystrophy caused by mutation in DMPK", "myotonic dystrophy of Steinert", "myotonic dystrophy type 1"; "DM1", "Steinert myotonic dystrophy", "Steinert's disease", "dystrophia myotonica 1", "dystrophia myotonica type 1", "myotonic dystrophy 1", "myotonic dystrophy 1; DM1"; "Orphanet:273"; ; rdfs:label "Steinert myotonic dystrophy", "Steinert myotonic dystrophy"@en; "ORPHA:273" . _:cab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness."; "Orphanet:273" . _:cab8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11722"; "MONDO:equivalentTo" . _:cab9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008310"; "MONDO:equivalentTo", "Orphanet-shared" . _:cabad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18471; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18471 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:cabbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "NTBT (narrower term maps to a broader term)"@en . _:cabcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.1"; "ORDO:273/inclusion", "ORDO:273/ntbt", "Orphanet:273" . _:cabdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.11"; "DOID:11722" . _:cabed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.21"; "DOID:11722" . _:cabfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538008"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84679"; "MONDO:equivalentTo" . _:cac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:160900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:160900"; "DOID:11722", "MONDO:equivalentTo", "ORDO:273/e", "Orphanet:273" . _:cac5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931688"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cacad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DM1"; "Orphanet:273" . _:cad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMPK myotonic dystrophy"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:cad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MD1"; "Orphanet:273" . _:cad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steinert disease"; "DOID:11722", "OMIM:160900", "Orphanet:273" . _:cad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steinert myotonic dystrophy syndrome"; "NCIT:C84679" . _:cad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steinert syndrome"; "NCIT:C84679" . _:cadbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital myotonic dystrophy"; "DOID:11722" . _:caddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophia myotonica"; "DOID:11722", "OMIM:160900" . _:caded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy caused by mutation in DMPK"; "MONDO:design_pattern" . _:cadfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy of Steinert"; "DOID:11722" . _:cae1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy type 1"; "MONDORULE:1", "OMIM:160900", "Orphanet:273" . _:cae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy type 1"; rdfs:comment "preferred label from MONDO" . _:cae5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DM1"; "MONDO:Lexical", "OMIM:160900" . _:cae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steinert myotonic dystrophy"; "Orphanet:273" . _:cae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steinert's disease"; "GARD:0008310" . _:cae9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophia myotonica 1"; "OMIM:160900" . _:caebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophia myotonica type 1"; "GARD:0008310" . _:caeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy 1"; "MONDO:Lexical", "OMIM:160900" . _:caf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy 1; DM1"; "OMIM:160900" . _:caf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:273" . a owl:Class; rdfs:subClassOf , , ; "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation."; , , , , ; , , , , ; "SCID due to ARTEMIS deficiency"@en, "SCID due to DCLRE1C deficiency"@en, "SCID, Athabascan type"@en, "SCID, Athabaskan type"@en, "Severe combined immunodeficiency due to ARTEMIS deficiency"@en, "Severe combined immunodeficiency, Athabascan type"@en, "Severe combined immunodeficiency, Athabaskan type"@en; "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation."@en; "orphanet", "orphanet"@en; "DOID:0060006", "DOID:0090012", "GARD:0009987", "ICD-10:D81.1", "ICD10:D81.1", "MONDO:0011225", "OMIM:602450", "SCTID:715982006", "UMLS:C1865372"; "DCLRE1C severe combined immunodeficiency (disease)", "SCID due to ARTEMIS deficiency", "SCID due to DCLRE1C deficiency", "SCID due to artemis deficiency", "SCID, Athabascan type", "SCID, Athabaskan type", "Severe combined immunodeficiency due to artemis deficiency", "Severe combined immunodeficiency, Athabascan type", "Severe combined immunodeficiency, Athabaskan type", "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C", "severe combined immunodeficiency due to ARTEMIS deficiency", "severe combined immunodeficiency due to DCLRE1C deficiency", "severe combined immunodeficiency due to artemis deficiency", "severe combined immunodeficiency, Athabascan type", "severe combined immunodeficiency, Athabaskan type"; "Athabaskan Severe combined immunodeficiency", "RS-SCID", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation", "artemis deficiency", "severe combined immunodeficiency with sensitivity to ionizing radiation", "severe combined immunodeficiency, Athabaskan-type", "severe combined immunodeficiency, partial"; "Orphanet:275"; , ; rdfs:label "Severe combined immunodeficiency due to DCLRE1C deficiency", "Severe combined immunodeficiency due to DCLRE1C deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation"^^xsd:anyURI; "ORPHA:275" . _:cafbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation."; "Orphanet:275" . _:cafcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060006"; "MONDO:equivalentTo" . _:cafdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090012"; "MONDO:equivalentTo" . _:cafed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009987"; "MONDO:equivalentTo" . _:cb00d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18506; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18506 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "Attributed"@en . _:cb04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "NTBT (narrower term maps to a broader term)"@en . _:cb06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.1"; "DOID:0090012", "ORDO:275/attributed", "ORDO:275/ntbt", "Orphanet:275" . _:cb07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602450"; "NTBT (narrower term maps to a broader term)"@en . _:cb09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602450"; "DOID:0090012", "MONDO:cjm", "MONDO:equivalentTo", "ORDO:275/ntbt", "Orphanet:275" . _:cb0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715982006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.75/2.66" . _:cb0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1865372"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cb0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCLRE1C severe combined immunodeficiency (disease)"; "MONDO:patterns/disease_series_by_gene" . _:cb10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to ARTEMIS deficiency"; "Orphanet:275" . _:cb12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to DCLRE1C deficiency"; "DOID:0090012", "Orphanet:275" . _:cb14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to artemis deficiency"; "DOID:0090012" . _:cb16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID, Athabascan type"; "DOID:0090012", "Orphanet:275" . _:cb17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID, Athabaskan type"; "DOID:0090012", "Orphanet:275" . _:cb18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to ARTEMIS deficiency"; "Orphanet:275" . _:cb19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to DCLRE1C deficiency"; "DOID:0090012" . _:cb1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to DCLRE1C deficiency"; rdfs:comment "preferred label from MONDO" . _:cb1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to artemis deficiency"; "DOID:0090012", "MONDO:0000570" . _:cb1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency, Athabascan type"; "DOID:0090012", "Orphanet:275" . _:cb1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency, Athabaskan type"; "DOID:0090012", "Orphanet:275" . _:cb1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Athabaskan Severe combined immunodeficiency"; "OMIM:602450" . _:cb22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RS-SCID"; "OMIM:602450" . _:cb24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation"; "OMIM:602450" . _:cb28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "artemis deficiency"; "DOID:0060006" . _:cb2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency with sensitivity to ionizing radiation"; "OMIM:602450" . _:cb2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency, Athabaskan-type"; "OMIM:602450" . _:cb2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency, partial"; "OMIM:602450" . _:cb2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009987" . _:cb31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275" . _:cb32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation"^^xsd:anyURI; "GARD:0009987" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females."; , ; , , , , , , , ; "OFD1"@en, "OFDI"@en, "OFDSI"@en, "Oral-facial-digital syndrome type 1"@en, "Papillon-Léage-Psaume syndrome"@en; "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females."@en; "orphanet", "orphanet"@en; "DOID:0060316", "GARD:0004121", "ICD-10:Q87.0", "ICD10:Q87.0", "MONDO:0010702", "NCIT:C75481", "OMIM:311200", "SCTID:763833006", "UMLS:C1510460", "UMLS:C2698658", "UMLS:C2931426"; "OFD1", "OFDI", "OFDSI", "Oral-facial-digital syndrome type 1", "Papillon-LC)age-Psaume syndrome", "Papillon-Leage-Psaume syndrome", "Papillon-Léage-Psaume syndrome", "oral-facial-digital syndrome type 1", "orofaciodigital syndrome 1", "orofaciodigital syndrome I", "orofaciodigital syndrome type 1", "orofaciodigital syndrome type I"; "OFD syndrome 1", "Ofds 1", "Papillon-Leage and Psaume syndrome", "Papillon-league-Psaume syndrome (formerly)", "oral facial digital syndrome 1", "oral facial digital syndrome type 1", "oral-Facial-digital syndrome, type 1", "oral-facial-digital syndrome 1", "orofaciodigital syndrome I; OFD1"; "Orphanet:2750"; ; rdfs:label "Orofaciodigital syndrome type 1", "Orofaciodigital syndrome type 1"@en; "ORPHA:2750" . _:cb41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females."; "Orphanet:2750" . _:cb45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060316"; "MONDO:equivalentTo" . _:cb46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004121"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:cb47d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18539; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18539 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "Attributed"@en . _:cb48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "NTBT (narrower term maps to a broader term)"@en . _:cb49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.0"; "DOID:0060316", "ORDO:2750/attributed", "ORDO:2750/ntbt", "Orphanet:2750" . _:cb4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75481"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.52" . _:cb4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:311200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cb4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:311200"; "DOID:0060316", "MONDO:equivalentTo", "ORDO:2750/e", "Orphanet:2750" . _:cb4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:763833006"; "MONDO:equivalentTo" . _:cb4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1510460"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cb4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1510460"; "DOID:0060316", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C75481", "OMIM:311200", "ORDO:2750/e", "Orphanet:2750" . _:cb51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2698658"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:cb52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931426"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cb54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OFD1"; "MONDO:Lexical", "OMIM:311200", "Orphanet:2750" . _:cb56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OFDI"; "Orphanet:2750" . _:cb58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OFDSI"; "Orphanet:2750" . _:cb5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-LC)age-Psaume syndrome"; "Orphanet:2750" . _:cb5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-Leage-Psaume syndrome"; "DOID:0060316" . _:cb79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-Léage-Psaume syndrome"; "Orphanet:2750" . _:cb7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral-facial-digital syndrome type 1"; "Orphanet:2750" . _:cb7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndrome 1"; "DOID:0060316" . _:cb81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndrome I"; "MONDO:Lexical", "OMIM:311200" . _:cb84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndrome I"; rdfs:comment "preferred label from MONDO" . _:cb86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndrome type 1"; "MONDORULE:1", "OMIM:311200" . _:cb89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndrome type I"; "DOID:0060316", "MONDORULE:1" . _:cb8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OFD syndrome 1"; "GARD:0004121" . _:cb8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ofds 1"; "OMIM:311200" . _:cb8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-Leage and Psaume syndrome"; "OMIM:311200" . _:cb8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-league-Psaume syndrome (formerly)"; "GARD:0004121" . _:cb8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral facial digital syndrome 1"; "GARD:0004121" . _:cb90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral facial digital syndrome type 1"; "GARD:0004121" . _:cb91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral-Facial-digital syndrome, type 1"; "OMIM:311200" . _:cb93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oral-facial-digital syndrome 1"; "GARD:0004121" . _:cb94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "orofaciodigital syndrome I; OFD1"; "OMIM:311200" . _:cb96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2750" . a owl:Class; rdfs:subClassOf ; "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses."; ; , , , ; "ALPS with recurrent viral infections"@en, "CEDS"@en, "Caspase 8 deficiency syndrome"@en; "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses."@en; "orphanet", "orphanet"@en; "DOID:0110116", "GARD:0009796", "ICD-10:D47.9", "ICD10:D47.9", "ICD10:D72.8", "MONDO:0011804", "OMIM:607271", "SCTID:722290008", "UMLS:C1846545"; "ALPS with recurrent viral infections", "ALPS2B", "CASP8 autoimmune lymphoproliferative syndrome", "CEDS", "Caspase 8 deficiency syndrome", "Caspase eight deficiency state", "autoimmune lymphoproliferative syndrome caused by mutation in CASP8", "autoimmune lymphoproliferative syndrome type 2B", "autoimmune lymphoproliferative syndrome type IIB", "autoimmune lymphoproliferative syndrome with recurrent viral infections", "caspase 8 deficiency", "caspase 8 deficiency syndrome", "caspase eight deficiency state"; "Ceds", "autoimmune lymphoproliferative syndrome, type 2B", "caspase-8 deficiency"; "Orphanet:275517"; ; rdfs:label "Autoimmune lymphoproliferative syndrome with recurrent viral infections", "Autoimmune lymphoproliferative syndrome with recurrent viral infections"@en; "ORPHA:275517" . _:cba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses."; "Orphanet:275517" . _:cba3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110116"; "MONDO:equivalentTo" . _:cba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009796"; "MONDO:equivalentTo", "OMIM-shared" . _:cba9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18576; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18576 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.9"; "Attributed"@en . _:cbaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.9"; "NTBT (narrower term maps to a broader term)"@en . _:cbabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D47.9"; "DOID:0110116", "ORDO:275517/attributed", "ORDO:275517/ntbt", "Orphanet:275517" . _:cbadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607271"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cbaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607271"; "DOID:0110116", "MONDO:equivalentTo", "ORDO:275517/e", "Orphanet:275517" . _:cbafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722290008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.57" . _:cbb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1846545"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cbb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPS with recurrent viral infections"; "DOID:0110116", "Orphanet:275517" . _:cbb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPS2B"; "DOID:0110116" . _:cbb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CASP8 autoimmune lymphoproliferative syndrome"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:cbb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEDS"; "DOID:0110116", "Orphanet:275517" . _:cbb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome caused by mutation in CASP8"; "MONDO:design_pattern" . _:cbb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome type 2B"; rdfs:comment "preferred label from MONDO" . _:cbb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome type IIB"; "DOID:0110116" . _:cbbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome with recurrent viral infections"; "DOID:0110116" . _:cbbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "caspase 8 deficiency"; "DOID:0110116", "OMIM:607271" . _:cbbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "caspase 8 deficiency syndrome"; "DOID:0110116", "Orphanet:275517" . _:cbc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "caspase eight deficiency state"; "DOID:0110116" . _:cbc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ceds"; "OMIM:607271" . _:cbc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome, type 2B"; "OMIM:607271" . _:cbc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "caspase-8 deficiency"; "GARD:0009796" . _:cbcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275517" . a owl:Class; rdfs:subClassOf , , ; "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)."; , ; "orphanet"; "GARD:0012524", "ICD10:Q04.8", "MONDO:0017140", "OMIM:303350", "OMIM:304100", "OMIM:307000", "UMLS:CN118845"; "CRASH syndrome", "Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome", "L1 syndrome", "L1CAM syndrome", "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome", "crash syndrome"; "Orphanet:275543"; ; rdfs:label "L1 syndrome" . _:cbced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)."; "Orphanet:275543" . _:cbd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012524"; "MONDO:equivalentTo", "Orphanet-shared" . _:cbd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.8"; "ORDO:275543/attributed", "ORDO:275543/ntbt", "Orphanet:275543" . _:cbd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN118845"; "MONDO:equivalentTo" . _:cbd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "L1 syndrome"; rdfs:comment "preferred label from MONDO" . _:cbd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "L1CAM syndrome"; "Orphanet:275543" . _:cbdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome"; "Orphanet:275543" . _:cbdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "crash syndrome"; "Orphanet:275543" . _:cbded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275543" . a owl:Class; rdfs:subClassOf ; , ; "Rare bleeding disorder due to a constitutional thrombocytopenia"@en, "Rare bleeding disorder due to a quantitative platelet defect"@en, "Rare coagulopathy due to a constitutional thrombocytopenia"@en, "Rare coagulopathy due to a quantitative platelet defect"@en, "Rare hemorrhagic disorder due to a quantitative platelet defect"@en; "MONDO:0017141", "UMLS:CN227098"; "Rare bleeding disorder due to a constitutional thrombocytopenia", "Rare coagulopathy due to a constitutional thrombocytopenia", "rare bleeding disorder due to a constitutional thrombocytopenia", "rare bleeding disorder due to a quantitative platelet defect", "rare coagulopathy due to a constitutional thrombocytopenia", "rare coagulopathy due to a quantitative platelet defect", "rare hemorrhagic disorder due to a constitutional thrombocytopenia", "rare hemorrhagic disorder due to a quantitative platelet defect"; "Orphanet:275729"; , ; rdfs:label "Rare hemorrhagic disorder due to a constitutional thrombocytopenia", "Rare hemorrhagic disorder due to a constitutional thrombocytopenia"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:275729" . _:cbe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227098"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:cbe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a constitutional thrombocytopenia"; "Orphanet:275729" . _:cbe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a quantitative platelet defect"; "Orphanet:275729" . _:cbe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a constitutional thrombocytopenia"; "Orphanet:275729" . _:cbead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a quantitative platelet defect"; "Orphanet:275729" . _:cbecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hemorrhagic disorder due to a constitutional thrombocytopenia"; rdfs:comment "preferred label from MONDO" . _:cbeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hemorrhagic disorder due to a quantitative platelet defect"; "Orphanet:275729" . _:cbefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275729" . a owl:Class; rdfs:subClassOf , , ; "Genetic infertility."; ; "MONDO:0017143"; "genetic infertility", "hereditary infertility disorder"; "Orphanet:275742"; ; rdfs:label "Genetic infertility", "Genetic infertility"@en; "ORPHA:275742" . _:cbf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic infertility"; "MONDO:patterns/genetic" . _:cbf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic infertility"; rdfs:comment "preferred label from MONDO" . _:cbf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary infertility disorder"; "MONDO:patterns/hereditary" . _:cbf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275742" . a owl:Class; rdfs:subClassOf , ; "Gautier Koscielny"; , ; "ICD10:D56.0", "MONDO:0017144", "UMLS:CN202570"; "alpha-thalassemia and related diseases"; "Orphanet:275745"; ; rdfs:label "Alpha-thalassemia and related diseases" . _:cbfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:cbfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.0"; "MONDO:superClassOf", "ORDO:275745/attributed", "ORDO:275745/ntbt", "Orphanet:275745" . _:cc03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202570"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:cc05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha-thalassemia and related diseases"; rdfs:comment "preferred label from MONDO" . _:cc07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275745" . a owl:Class; rdfs:subClassOf , ; "Gautier Koscielny"; , ; "ICD10:D56.1", "MONDO:0017145", "UMLS:CN202571"; "beta-thalassemia and related diseases"; "Orphanet:275749"; ; rdfs:label "Beta-thalassemia and related diseases" . _:cc0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:cc10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.1"; "ORDO:275749/attributed", "ORDO:275749/ntbt", "Orphanet:275749" . _:cc12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202571"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:cc14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "beta-thalassemia and related diseases"; rdfs:comment "preferred label from MONDO" . _:cc16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275749" . a owl:Class; rdfs:subClassOf , , ; , ; "true"; "ICD-10:D57.0", "ICD-10:D57.1", "ICD-10:D57.2", "ICD-10:D57.3", "ICD-10:D57.8", "ICD10:D57.0", "ICD10:D57.1", "ICD10:D57.2", "ICD10:D57.3", "ICD10:D57.8", "MONDO:0017146", "UMLS:CN202572"; "sickle cell disease and related diseases"; "Orphanet:275752"; ; rdfs:label "Sickle cell disease and related diseases", "Sickle cell disease and related diseases"@en; "ORPHA:275752" . _:cc1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.0"; "BTNT (broader term maps to a narrower term)"@en . _:cc1cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18631; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18631 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.0"; "Specific code (The term has its own code in the ICD10)"@en . _:cc1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.1"; "BTNT (broader term maps to a narrower term)"@en . _:cc1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.1"; "Specific code (The term has its own code in the ICD10)"@en . _:cc20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.2"; "BTNT (broader term maps to a narrower term)"@en . _:cc22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.2"; "Specific code (The term has its own code in the ICD10)"@en . _:cc25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.3"; "BTNT (broader term maps to a narrower term)"@en . _:cc28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.3"; "Specific code (The term has its own code in the ICD10)"@en . _:cc29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.8"; "BTNT (broader term maps to a narrower term)"@en . _:cc2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.8"; "Specific code (The term has its own code in the ICD10)"@en . _:cc2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.0"; "ORDO:275752/btnt", "ORDO:275752/specific", "Orphanet:275752" . _:cc31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.1"; "ORDO:275752/btnt", "ORDO:275752/specific", "Orphanet:275752" . _:cc32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.2"; "ORDO:275752/btnt", "ORDO:275752/specific", "Orphanet:275752" . _:cc33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.3"; "ORDO:275752/btnt", "ORDO:275752/specific", "Orphanet:275752" . _:cc34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D57.8"; "ORDO:275752/btnt", "ORDO:275752/specific", "Orphanet:275752" . _:cc37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202572"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:cc39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sickle cell disease and related diseases"; rdfs:comment "preferred label from MONDO" . _:cc3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275752" . a owl:Class; rdfs:subClassOf ; "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.", "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal."; , , , , ; "IPAH"@en, "Primary pulmonary arterial hypertension"@en; "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH."@en; "orphanet", "orphanet"@en; "ICD-10:I27.0", "ICD10:I27.0", "ICD9:416.0", "MONDO:0017147", "MedDRA:10065151", "SCTID:697898008", "UMLS:C0152171", "UMLS:C3203102", "UMLS:CN202574"; "IPAH", "idiopathic pulmonary arterial hypertension", "primary pulmonary arterial hypertension"; "Orphanet:275766"; ; rdfs:label "Idiopathic pulmonary arterial hypertension", "Idiopathic pulmonary arterial hypertension"@en; "ORPHA:275766" . _:cc43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH."; "Orphanet:275766" . _:cc45d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18650; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18650 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.0"; "Attributed"@en . _:cc46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.0"; "NTBT (narrower term maps to a broader term)"@en . _:cc49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I27.0"; "MONDO:subClassOf", "ORDO:275766/attributed", "ORDO:275766/ntbt", "Orphanet:275766" . _:cc4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:416.0"; "MONDO:equivalentTo", "i2s" . _:cc4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065151"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cc4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065151"; "ORDO:275766/e", "Orphanet:275766" . _:cc53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:697898008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:cc55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152171"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cc56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3203102"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cc57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3203102"; "MONDO:equivalentTo", "ORDO:275766/e", "Orphanet:275766" . _:cc59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202574"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:cc5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPAH"; "Orphanet:275766" . _:cc5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic pulmonary arterial hypertension"; rdfs:comment "preferred label from MONDO" . _:cc5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary pulmonary arterial hypertension"; "Orphanet:275766" . _:cc60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275766" . a owl:Class; rdfs:subClassOf , ; "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal.", "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal."; , ; , , , ; "FPAH"@en, "Familial pulmonary arterial hypertension"@en, "HPAH"@en, "Hereditary pulmonary arterial hypertension"@en; "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal."@en; "orphanet", "orphanet"@en; "COHD:44783618", "ICD-10:I27.0", "ICD10:I27.0", "MONDO:0017148", "NCIT:C121945", "OMIM:178600", "OMIM:615342", "SCTID:697897003", "UMLS:C0340543", "UMLS:C1701939", "UMLS:CN202575"; "FPAH", "Familial pulmonary arterial hypertension", "Hereditary pulmonary arterial hypertension", "HpaH", "familial pulmonary arterial hypertension", "hereditary pulmonary arterial hypertension", "heritable pulmonary arterial hypertension"; "Orphanet:275777"; ; rdfs:label "Heritable pulmonary arterial hypertension", "Heritable pulmonary arterial hypertension"@en; "ORPHA:275777" . _:cc63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal."; "Orphanet:275777" . _:cc66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:44783618"; "MONDO:equivalentTo" . _:cc67d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18668; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18668 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.0"; "Attributed"@en . _:cc6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.0"; "NTBT (narrower term maps to a broader term)"@en . _:cc6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I27.0"; "MONDO:subClassOf", "ORDO:275777/attributed", "ORDO:275777/ntbt", "Orphanet:275777" . _:cc6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C121945"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:cc6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:178600"; "BTNT (broader term maps to a narrower term)"@en . _:cc74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615342"; "BTNT (broader term maps to a narrower term)"@en . _:cc76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:697897003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:cc7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0340543"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cc7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1701939"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cc7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202575"; "MONDO:equivalentTo" . _:cc80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FPAH"; "Orphanet:275777" . _:cc81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HpaH"; "Orphanet:275777" . _:cc82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial pulmonary arterial hypertension"; "Orphanet:275777" . _:cc83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary pulmonary arterial hypertension"; "MONDO:patterns/hereditary", "Orphanet:275777" . _:cc84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heritable pulmonary arterial hypertension"; rdfs:comment "preferred label from MONDO" . _:cc85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:275777" . a owl:Class; rdfs:subClassOf ; "Drug- or toxin-induced PAH"@en; "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal."@en; "orphanet"@en; "ICD-10:I27.2", "UMLS:C0340544"; rdfs:label "Drug- or toxin-induced pulmonary arterial hypertension"@en; "ORPHA:275786" . _:cc87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . _:cc89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0340544"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "PAH associated with another disease"@en, "Secondary PAH"@en; "Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal."@en; "orphanet"@en; "ICD-10:I27.2"; rdfs:label "Pulmonary arterial hypertension associated with another disease"@en; "ORPHA:275791" . _:cc8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "PAH associated with connective tissue disease"@en; "Pulmonary arterial hypertension (PAH, see this term) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease."@en; "orphanet"@en; "ICD-10:I27.2"; rdfs:label "Pulmonary arterial hypertension associated with connective tissue disease"@en; "ORPHA:275798" . _:cc8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "PAH associated with congenital heart disease"@en; "Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery."@en; "orphanet"@en; "ICD-10:I27.2"; rdfs:label "Pulmonary arterial hypertension associated with congenital heart disease"@en; "ORPHA:275803" . _:cc92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "PAH associated with HIV infaction"@en; "Pulmonary arterial hypertension (PAH, see this entry) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection."@en; "orphanet"@en; "ICD-10:I27.2"; rdfs:label "Pulmonary arterial hypertension associated with HIV infection"@en; "ORPHA:275808" . _:cc9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "PAH associated with portal hypertension"@en, "POPH"@en, "Portopulmonary hypertension"@en; "Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension."@en; "orphanet"@en; "ICD-10:I27.2", "UMLS:C1868851"; rdfs:label "Pulmonary arterial hypertension associated with portal hypertension"@en; "ORPHA:275813" . _:cca3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . _:cca6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1868851"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "PAH associated with schistosomiasis"@en; "Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term)."@en; "orphanet"@en; "ICD-10:I27.2"; rdfs:label "Pulmonary arterial hypertension associated with schistosomiasis"@en; "ORPHA:275823" . _:cca8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "PAH associated with chronic hemolytic anemia"@en; "Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia."@en; "orphanet"@en; "ICD-10:I27.2"; rdfs:label "Pulmonary arterial hypertension associated with chronic hemolytic anemia"@en; "ORPHA:275828" . _:ccaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "PH due to lung disease and/or hypoxia"@en, "PH owing to lung disease and/or hypoxia"@en, "Pulmonary hypertension due to lung disease and/or hypoxia"@en; "ICD-10:I27.2"; rdfs:label "Pulmonary hypertension owing to lung disease and/or hypoxia"@en; "ORPHA:275837" . _:ccabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "PH with unclear multifactorial mechanism"@en; rdfs:label "Pulmonary hypertension with unclear multifactorial mechanism"@en; "ORPHA:275844" . a owl:Class; rdfs:subClassOf , ; "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."; "SCIDX1"@en, "T-B+ SCID due to gamma chain deficiency"@en, "T-B+ severe combined immunodeficiency, X-linked"@en; "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."@en; "orphanet", "orphanet"@en; "ICD-10:D81.2", "ICD10:D81.2", "OMIM:300400", "UMLS:C2931540"; "SCIDX1", "T-B+ SCID due to gamma chain deficiency", "T-B+ severe combined immunodeficiency, X-linked"; rdfs:label "T-B+ severe combined immunodeficiency due to gamma chain deficiency", "T-B+ severe combined immunodeficiency due to gamma chain deficiency"@en; "ORPHA:276" . _:ccb5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18696; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18696 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:ccb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:ccb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ccbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931540"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome."; , ; "MONDO:0021037", "UMLS:CN202589"; "genetic neurodegenerative disease with dementia"; "Orphanet:276058"; rdfs:label "Genetic neurodegenerative disease with dementia", "Genetic neurodegenerative disease with dementia"@en; "ORPHA:276058" . _:ccbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:ccc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202589"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:ccc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic neurodegenerative disease with dementia"; "MONDO:patterns/genetic" . _:ccc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic neurodegenerative disease with dementia"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; ; "ICD10:G31.0", "Orphanet:98535"; "frontotemporal degeneration with dementia"; "Orphanet:276061"; ; rdfs:label "Genetic frontotemporal degeneration with dementia" . _:ccc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G31.0"; "ORDO:98535/ntbt", "Orphanet:98535" . _:ccc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98535"; "MONDO:equivalentTo" . _:cccbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "frontotemporal degeneration with dementia"; rdfs:comment "preferred label from MONDO" . _:ccccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98535" . a owl:Class; rdfs:subClassOf , , ; "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors."; , , , , , , ; "MEN4"@en; "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors."@en; "orphanet"@en; "DOID:0080137", "ICD-10:D44.8", "ICD10:D44.8", "MESH:C567059", "MONDO:0012552", "OMIM:610755", "SCTID:715907003", "UMLS:C1970712", "UMLS:C4274947"; "CDKN1B multiple endocrine neoplasia", "MEN4", "multiple endocrine neoplasia caused by mutation in CDKN1B", "multiple endocrine neoplasia type 4", "multiple endocrine neoplasia, type IV"; "multiple endocrine neoplasia, type 4", "multiple endocrine neoplasia, type IV; MEN4"; "Orphanet:276152"; ; rdfs:label "Multiple endocrine neoplasia type 4", "Multiple endocrine neoplasia type 4"@en; "ORPHA:276152" . _:ccd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors."; "Orphanet:276152" . _:ccd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080137"; "MONDO:equivalentTo" . _:ccd7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18711; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18711 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Attributed"@en . _:ccdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "NTBT (narrower term maps to a broader term)"@en . _:ccdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:subClassOf", "ORDO:276152/attributed", "ORDO:276152/ntbt", "Orphanet:276152" . _:ccddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567059"; "MONDO:equivalentTo", "MONDO:ontobio" . _:ccdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610755"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cce2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610755"; "DOID:0080137", "MONDO:equivalentTo", "ORDO:276152/e", "Orphanet:276152" . _:cce3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715907003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:cce4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970712"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cce5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970712"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:610755", "Orphanet:276152" . _:cce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4274947"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:cce7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDKN1B multiple endocrine neoplasia"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:cce8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN4"; "MONDO:Lexical", "OMIM:610755", "Orphanet:276152" . _:cce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia caused by mutation in CDKN1B"; "MONDO:design_pattern" . _:ccead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 4"; rdfs:comment "preferred label from MONDO" . _:ccebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type IV"; "DOID:0080137", "MONDO:Lexical", "OMIM:610755" . _:ccecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type 4"; "OMIM:610755" . _:cceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type IV; MEN4"; "OMIM:610755" . _:ccf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276152" . a owl:Class; rdfs:subClassOf , , ; "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs."; , , , , ; "MEN"@en; "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs."@en; "orphanet"@en; "DC:0000291", "ICD-10:D44.8", "ICD10:D44.8", "ICD9:258.0", "ICDO:8360/1", "MONDO:0017169", "MedDRA:10061299", "NCIT:C6432", "OMIMPS:131100", "SCTID:46724008", "UMLS:C0027662"; "men", "men syndrome", "men syndromes", "multiple endocrine adenomatosis", "multiple endocrine neoplasia", "multiple endocrine neoplasia syndrome", "multiple endocrine neoplasia syndrome(s)"; "Orphanet:276161"; ; rdfs:label "Multiple endocrine neoplasia", "Multiple endocrine neoplasia"@en; "ORPHA:276161" . _:ccf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs."; "Orphanet:276161" . _:ccf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000291"; "MONDO:equivalentTo" . _:ccf9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18732; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ccfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "NTBT (narrower term maps to a broader term)"@en . _:ccfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:subClassOf", "ORDO:276161/inclusion", "ORDO:276161/ntbt", "Orphanet:276161" . _:cd02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:258.0"; "MONDO:equivalentTo", "i2s" . _:cd04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8360/1"; "NCIT:C6432" . _:cd05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061299"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cd07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061299"; "ORDO:276161/e", "Orphanet:276161" . _:cd09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C6432"; "MONDO:equivalentTo", "kboom:pr0.78-conf4.37" . _:cd0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:131100"; "DC:0000291", "MONDO:equivalentTo" . _:cd0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:46724008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/10.37" . _:cd12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027662"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cd13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027662"; "MONDO:equivalentTo", "NCIT:C6432", "ORDO:276161/e", "Orphanet:276161" . _:cd15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men"; "NCIT:C6432", "Orphanet:276161" . _:cd16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men syndrome"; "NCIT:C6432" . _:cd19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men syndromes"; "NCIT:C6432" . _:cd1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis"; "NCIT:C6432" . _:cd1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia"; "NCIT:C6432" . _:cd1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia"; rdfs:comment "preferred label from MONDO" . _:cd23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia syndrome"; "NCIT:C6432" . _:cd25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia syndrome(s)"; "NCIT:C6432" . _:cd26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276161" . a owl:Class; rdfs:subClassOf , , , , ; "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome."; , , ; "FHI"@en, "Familial hyperinsulinemic hypoglycemia"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017182", "NCIT:C131425", "OMIM:256450", "OMIM:601820", "UMLS:C2931834"; "FHI", "Familial hyperinsulinemic hypoglycemia", "HHI", "Neonatal hyperinsulinism", "Nesidioblastosis", "congenital hyperinsulinism", "familial hyperinsulinemic hypoglycemia", "familial hyperinsulinism", "hereditary hyperinsulinism (disease)", "hyperinsulinemia of infancy", "hyperinsulinemic hypoglycemia"; "Orphanet:276525"; ; rdfs:label "Familial hyperinsulinism", "Familial hyperinsulinism"@en; "ORPHA:276525" . _:cd2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:cd2ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18755; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18755 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:cd2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:cd30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:276525/attributed", "ORDO:276525/ntbt", "Orphanet:276525" . _:cd31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131425"; "MONDO:equivalentTo" . _:cd32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931834"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cd33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHI"; "Orphanet:276525" . _:cd35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHI"; "NCIT:C131425" . _:cd38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neonatal hyperinsulinism"; "NCIT:C131425" . _:cd3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nesidioblastosis"; "NCIT:C131425" . _:cd3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hyperinsulinism"; "NCIT:C131425" . _:cd3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperinsulinemic hypoglycemia"; "Orphanet:276525" . _:cd3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperinsulinism"; rdfs:comment "preferred label from MONDO" . _:cd40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hyperinsulinism (disease)"; "MONDO:patterns/hereditary" . _:cd42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemia of infancy"; "NCIT:C131425" . _:cd44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia"; "NCIT:C131425" . _:cd47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276525" . a owl:Class; rdfs:subClassOf , ; "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution."; , , ; "Hyperinsulinemic hypoglycemia due to UCP2 deficiency"@en; "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017183", "SCTID:721834007", "UMLS:C4303082"; "Hyperinsulinemic hypoglycemia due to UCP2 deficiency", "hyperinsulinemic hypoglycemia due to UCP2 deficiency", "hyperinsulinism due to UCP2 deficiency"; "Orphanet:276556"; ; rdfs:label "Hyperinsulinism due to UCP2 deficiency", "Hyperinsulinism due to UCP2 deficiency"@en; "ORPHA:276556" . _:cd4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution."; "Orphanet:276556" . _:cd4cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18773; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18773 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:cd4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:cd4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:276556/attributed", "ORDO:276556/ntbt", "Orphanet:276556" . _:cd50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721834007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.31" . _:cd51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4303082"; "MONDO:equivalentTo" . _:cd52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to UCP2 deficiency"; "Orphanet:276556" . _:cd53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to UCP2 deficiency"; rdfs:comment "preferred label from MONDO" . _:cd56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276556" . a owl:Class; rdfs:subClassOf , , ; "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term)."; , , , ; "Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency"@en; "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term)."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017184", "OMIM:256450", "SCTID:717046003", "UMLS:C4274080", "UMLS:CN202625"; "Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency", "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency", "autosomal dominant hyperinsulinism due to SUR1 deficiency"; "Orphanet:276575"; ; rdfs:label "Autosomal dominant hyperinsulinism due to SUR1 deficiency", "Autosomal dominant hyperinsulinism due to SUR1 deficiency"@en; "ORPHA:276575" . _:cd57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term)."; "Orphanet:276575" . _:cd58d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18783; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18783 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:cd59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:cd5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:276575/attributed", "ORDO:276575/ntbt", "Orphanet:276575" . _:cd5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256450"; "NTBT (narrower term maps to a broader term)"@en . _:cd5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717046003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:cd5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4274080"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:cd61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202625"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:cd63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency"; "Orphanet:276575" . _:cd6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hyperinsulinism due to SUR1 deficiency"; rdfs:comment "preferred label from MONDO" . _:cd6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276575" . a owl:Class; rdfs:subClassOf , , ; "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term)."; , , , ; "Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"@en, "Dominant KATP hyperinsulinism due to Kir6.2 deficiency"@en; "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term)."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017185", "OMIM:601820", "SCTID:717045004", "UMLS:C4274081", "UMLS:CN202626"; "Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "autosomal dominant hyperinsulinism due to Kir6.2 deficiency", "dominant KATP hyperinsulinism due to Kir6.2 deficiency"; "Orphanet:276580"; ; rdfs:label "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency", "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"@en; "ORPHA:276580" . _:cd71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term)."; "Orphanet:276580" . _:cd76d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18795; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18795 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:cd79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:cd7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:276580/attributed", "ORDO:276580/ntbt", "Orphanet:276580" . _:cd7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601820"; "NTBT (narrower term maps to a broader term)"@en . _:cd80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717045004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:cd82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4274081"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:cd83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202626"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:cd85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"; "Orphanet:276580" . _:cd87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hyperinsulinism due to Kir6.2 deficiency"; rdfs:comment "preferred label from MONDO" . _:cd89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dominant KATP hyperinsulinism due to Kir6.2 deficiency"; "Orphanet:276580" . _:cd8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276580" . a owl:Class; rdfs:subClassOf ; "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism (see this term) caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide."; ; "Diazoxide-resistant hyperinsulinemic hypoglycemia"@en; "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017186"; "Diazoxide-resistant hyperinsulinemic hypoglycemia", "diazoxide-resistant hyperinsulinemic hypoglycemia", "diazoxide-resistant hyperinsulinism"; "Orphanet:276585"; ; rdfs:label "Diazoxide-resistant hyperinsulinism", "Diazoxide-resistant hyperinsulinism"@en; "ORPHA:276585" . _:cd90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism (see this term) caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide."; "Orphanet:276585" . _:cd91d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18808; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18808 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:cd94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:cd96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:276585/attributed", "ORDO:276585/ntbt", "Orphanet:276585" . _:cd97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diazoxide-resistant hyperinsulinemic hypoglycemia"; "Orphanet:276585" . _:cd99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diazoxide-resistant hyperinsulinism"; rdfs:comment "preferred label from MONDO" . _:cd9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276585" . a owl:Class; rdfs:subClassOf , , ; ; "Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form"@en; "A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017187", "OMIM:256450"; "Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form", "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency", "hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form"; "Orphanet:276598"; ; rdfs:label "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency", "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"@en; "ORPHA:276598" . _:cd9dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18815; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18815 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:cda2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:cda4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:276598/attributed", "ORDO:276598/ntbt", "Orphanet:276598" . _:cdbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256450"; "NTBT (narrower term maps to a broader term)"@en . _:cdbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"; rdfs:comment "preferred label from MONDO" . _:cdbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form"; "Orphanet:276598" . _:cdbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276598" . a owl:Class; rdfs:subClassOf , , ; ; "Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form"@en; "A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017188", "OMIM:601820"; "Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form", "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency", "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form"; "Orphanet:276603"; ; rdfs:label "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency", "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"@en; "ORPHA:276603" . _:cdc0d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18823; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18823 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:cdc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:cdc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:276603/attributed", "ORDO:276603/ntbt", "Orphanet:276603" . _:cdc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601820"; "NTBT (narrower term maps to a broader term)"@en . _:cdc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"; rdfs:comment "preferred label from MONDO" . _:cdc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form"; "Orphanet:276603" . _:cdc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276603" . a owl:Class; rdfs:subClassOf , ; "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide"; , , ; "NI-PHH"@en; "orphanet"; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017189", "SCTID:717044000", "UMLS:C4274082"; "NI-PHH", "adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia"; "Orphanet:276608"; ; rdfs:label "Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia", "Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia"@en; "ORPHA:276608" . _:cdcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide"; "Orphanet:276608" . _:cdced a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18832; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:cdd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:cdd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:276608/attributed", "ORDO:276608/ntbt", "Orphanet:276608" . _:cdd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717044000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.57" . _:cdd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4274082"; "MONDO:equivalentTo" . _:cdd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NI-PHH"; "Orphanet:276608" . _:cddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia"; rdfs:comment "preferred label from MONDO" . _:cdddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:276608" . a owl:Class; rdfs:subClassOf ; "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating."@en; "orphanet"@en; "ICD-10:C74.1", "ICD-10:D35.0"; rdfs:label "Sporadic pheochromocytoma/secreting paraganglioma"@en; "ORPHA:276621" . _:cddfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C74.1"; "NTBT (narrower term maps to a broader term)"@en . _:cde1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "A rare tumor of endocrine glands characterized, typically, by a unicentric, unilateral, sporadic, catecholamine-secreting neuroendocrine tumor, arising from chromaffin cells of the adrenal medulla, presenting with highly variable and non-specific manifestations, including hypertension (that can be paroxysmal, persistent, or resistant), cephalea, heart palpitations, anxiety, diaphoresis, unexplained fever, chronic fatigue and weakness, among others."@en; "orphanet"@en; "ICD-10:C74.1", "ICD-10:D35.0"; rdfs:label "Sporadic pheochromocytoma"@en; "ORPHA:276624" . _:cde2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C74.1"; "NTBT (narrower term maps to a broader term)"@en . _:cde4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , ; "Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections."; , , , , , , ; , , , , , , , ; "ADA deficiency"@en, "SCID due to adenosine deaminase deficiency"@en; "Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections."@en; "orphanet", "orphanet"@en; "CSP:1560-6660", "DOID:5810", "EFO:0009147", "GARD:0005748", "ICD-10:D81.3", "ICD10:D81.3", "ICD9:277.2", "MESH:C531816", "MONDO:0007064", "MSH:C531816", "MeSH:C531816", "MedDRA:10066367", "NCIT:C3962", "OMIM:102700", "SCTID:44940001", "UMLS:C0268124", "UMLS:C0392607"; "ADA", "ADA deficiency", "SCID due to adenosine deaminase deficiency", "adenosine deaminase deficiency"; "ADA-SCID", "SCID due to ADA deficiency", "SCID due to ADA deficiency, delayed onset", "SCID due to ADA deficiency, early-onset", "SCID due to ADA deficiency, late-onset", "adenosine deaminase deficiency, partial", "adenosine deaminase deficient severe combined immunodeficiency", "partial ADA deficiency", "severe combined immunodeficiency due to ADA deficiency", "severe combined immunodeficiency due to adenosine deaminase deficiency", "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-NEGATIVE, NK cell-NEGATIVE, due to adenosine deaminase deficiency"; "Orphanet:277"; , ; rdfs:label "Severe combined immunodeficiency due to adenosine deaminase deficiency", "Severe combined immunodeficiency due to adenosine deaminase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency"^^xsd:anyURI; "ORPHA:277" . _:cdf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections."; "Orphanet:277" . _:cdf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSP:1560-6660"; "DOID:5810" . _:cdf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5810"; "MONDO:equivalentTo" . _:cdfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0009147"; "MONDO:equivalentTo" . _:cdfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005748"; "MONDO:equivalentTo" . _:cdfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cdffd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18851; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18851 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.3"; "Specific code (The term has its own code in the ICD10)"@en . _:ce03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.3"; "DOID:5810", "ORDO:277/e", "ORDO:277/specific", "Orphanet:277" . _:ce06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.2"; "MONDO:relatedTo", "i2s" . _:ce0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C531816"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:277/e", "Orphanet:277" . _:ce0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C531816"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066367"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066367"; "ORDO:277/e", "Orphanet:277" . _:ce11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3962"; "DOID:5810", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:ce14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102700"; "DOID:5810", "MONDO:equivalentTo", "ORDO:277/e", "Orphanet:277" . _:ce17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:44940001"; "DOID:5810", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:ce18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268124"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0392607"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADA"; "DOID:5810" . _:ce1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADA deficiency"; "Orphanet:277" . _:ce1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to adenosine deaminase deficiency"; "Orphanet:277" . _:ce1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenosine deaminase deficiency"; rdfs:comment "preferred label from MONDO" . _:ce20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADA-SCID"; "OMIM:102700" . _:ce21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to ADA deficiency"; "OMIM:102700" . _:ce22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to ADA deficiency, delayed onset"; "OMIM:102700" . _:ce23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to ADA deficiency, early-onset"; "OMIM:102700" . _:ce24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to ADA deficiency, late-onset"; "OMIM:102700" . _:ce26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenosine deaminase deficiency, partial"; "OMIM:102700" . _:ce27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenosine deaminase deficient severe combined immunodeficiency"; "GARD:0005748" . _:ce28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial ADA deficiency"; "OMIM:102700" . _:ce2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to ADA deficiency"; "GARD:0005748" . _:ce2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to adenosine deaminase deficiency"; "GARD:0005748" . _:ce2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-NEGATIVE, NK cell-NEGATIVE, due to adenosine deaminase deficiency"; "OMIM:102700" . _:ce2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005748" . _:ce2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:277" . _:ce32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency"^^xsd:anyURI; "GARD:0005748" . a owl:Class; rdfs:subClassOf , , ; "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities."; , , , , ; "Idiopathic multicentric osteolysis with or without nephropathy"@en; "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities."@en; "orphanet", "orphanet"@en; "GARD:0003818", "GARD:0013042", "MESH:C567171", "MONDO:0008152", "OMIM:166300", "SCTID:766992008", "UMLS:C2674705"; "Idiopathic multicentric osteolysis with or without nephropathy", "idiopathic multicentric osteolysis with or without nephropathy", "multicentric carpo-tarsal osteolysis with or without nephropathy"; "Carnevale canun Mendoza syndrome", "MCTO", "multicentric carpotarsal osteolysis syndrome", "multicentric carpotarsal osteolysis syndrome; MCTO", "multicentric osteolysis nephropathy", "multicentric osteolysis, autosomal dominant", "osteolysis, hereditary, of carpal bones with or without nephropathy"; "Orphanet:2774"; , ; rdfs:label "Multicentric carpo-tarsal osteolysis with or without nephropathy", "Multicentric carpo-tarsal osteolysis with or without nephropathy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy"^^xsd:anyURI; "ORPHA:2774" . _:ce38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities."; "Orphanet:2774" . _:ce39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003818"; "MONDO:equivalentTo" . _:ce3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013042"; "MONDO:equivalentTo" . _:ce3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567171"; "MONDO:equivalentTo", "MONDO:ontobio" . _:ce3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:166300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:166300"; "GARD:0003818", "GARD:0013042", "MONDO:equivalentTo", "ORDO:2774/e", "Orphanet:2774" . _:ce3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:766992008"; "MONDO:equivalentTo" . _:ce3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2674705"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2674705"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:166300", "Orphanet:2774" . _:ce41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic multicentric osteolysis with or without nephropathy"; "GARD:0003818", "Orphanet:2774" . _:ce42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicentric carpo-tarsal osteolysis with or without nephropathy"; "GARD:0003818", "GARD:0013042" . _:ce43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicentric carpo-tarsal osteolysis with or without nephropathy"; rdfs:comment "preferred label from MONDO" . _:ce46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnevale canun Mendoza syndrome"; "GARD:0003818" . _:ce48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCTO"; "MONDO:Lexical", "OMIM:166300" . _:ce4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicentric carpotarsal osteolysis syndrome"; "MONDO:Lexical", "OMIM:166300" . _:ce4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicentric carpotarsal osteolysis syndrome; MCTO"; "OMIM:166300" . _:ce55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicentric osteolysis nephropathy"; "GARD:0003818" . _:ce56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicentric osteolysis, autosomal dominant"; "OMIM:166300" . _:ce59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteolysis, hereditary, of carpal bones with or without nephropathy"; "OMIM:166300" . _:ce5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2774" . _:ce5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy"^^xsd:anyURI; "GARD:0003818" . a owl:Class; rdfs:subClassOf , ; "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs."; , , , , ; , , , , , ; "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs."@en; "orphanet", "orphanet"@en; "COHD:81403", "DOID:13533", "GARD:0004155", "HP:0011002", "ICD-10:Q78.2", "ICD10:Q78.2", "ICD9:756.52", "MONDO:0017198", "MSH:D010022", "MeSH:D010022", "MedDRA:10031280", "NCIT:C26840", "OMIMPS:259700", "SCTID:1926006", "UMLS:C0029454"; "Albers-Schonberg disease", "marble bone", "marble bone disease", "marble bones", "osteopetrosis", "osteopetrosis (disease)"; "Albers-Schoenberg disease", "osteopetroses", "osteopetrosis and related disorders", "osteosclerosis fragilis"; "Orphanet:2781"; ; rdfs:label "Osteopetrosis", "Osteopetrosis and related disorders"@en; "ORPHA:2781" . _:ce60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs."; "Orphanet:2781" . _:ce61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:81403"; "MONDO:equivalentTo" . _:ce62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13533"; "MONDO:equivalentTo" . _:ce63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004155"; "MONDO:equivalentTo", "Orphanet-shared" . _:ce64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0011002"; "MONDO:otherHierarchy", "ontobio" . _:ce65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce66d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18910; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18910 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.2"; "Specific code (The term has its own code in the ICD10)"@en . _:ce67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.2"; "DOID:13533", "ORDO:2781/e", "ORDO:2781/specific", "Orphanet:2781" . _:ce68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.52"; "DOID:13533", "MONDO:equivalentTo", "i2s" . _:ce69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D010022"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10031280"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10031280"; "ORDO:2781/e", "Orphanet:2781" . _:ce6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26840"; "DOID:13533", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.67/2.17" . _:ce71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:259700"; "DOID:13533" . _:ce72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:1926006"; "DOID:13533", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:ce74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029454"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ce75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albers-Schonberg disease"; "DOID:13533", "GARD:0004155" . _:ce76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "marble bone"; "CSP2005:1849-7232", "DOID:13533" . _:ce77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "marble bone disease"; "GARD:0004155" . _:ce78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "marble bones"; "GARD:0004155" . _:ce79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis"; "MONDO:ambiguous" . _:ce7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis (disease)"; rdfs:comment "preferred label from MONDO" . _:ce7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albers-Schoenberg disease"; "GARD:0004155" . _:ce7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetroses"; "GARD:0004155" . _:ce80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis and related disorders"; "Orphanet:2781" . _:ce81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteosclerosis fragilis"; "GARD:0004155" . _:ce83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2781" . a owl:Class; rdfs:subClassOf , , ; "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."; , ; , , , , , ; "Carbonic anhydrase 2 deficiency"@en, "Guibaud-Vainsel syndrome"@en, "Marble brain disease"@en, "Mixed RTA"@en, "Mixed renal tubular acidosis"@en, "Renal tubular acidosis type 3"@en; "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."@en; "orphanet", "orphanet"@en; "DOID:0110941", "GARD:0004154", "ICD-10:Q78.2", "ICD10:Q78.2", "ICD9:588.89", "MESH:C536058", "MONDO:0009818", "MSH:C536058", "MeSH:C536058", "NCIT:C118438", "OMIM:259730", "OMIM:267200", "SCTID:254122007", "UMLS:C1849435"; "Autosomal Recessive osteopetrosis, type 3", "CA2 osteopetrosis (disease)", "Carbonic anhydrase 2 deficiency", "Guibaud-Vainsel syndrome", "Marble brain disease", "Mixed RTA", "Mixed renal tubular acidosis", "OPTB3", "Renal tubular acidosis type 3", "autosomal recessive osteopetrosis 3", "autosomal recessive osteopetrosis 3 with renal tubular acidosis", "autosomal recessive osteopetrosis type 3", "carbonic anhydrase 2 deficiency", "carbonic anhydrase II deficiency", "marble brain disease", "mixed RTA", "mixed renal tubular acidosis", "osteopetrosis (disease) caused by mutation in CA2", "osteopetrosis with renal tubular acidosis", "osteopetrosis, autosomal recessive type 3", "renal tubular acidosis type 3"; "Guibaud Vainsel syndrome", "osteopetrosis autosomal recessive 3", "osteopetrosis, autosomal recessive 3", "osteopetrosis, autosomal recessive 3; OPTB3"; "Orphanet:2785"; , ; rdfs:label "Osteopetrosis with renal tubular acidosis", "Osteopetrosis with renal tubular acidosis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3"^^xsd:anyURI; "ORPHA:2785" . _:ce8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."; "Orphanet:2785" . _:ce90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110941"; "MONDO:equivalentTo" . _:ce92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004154"; "MONDO:equivalentTo" . _:ce94d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18935; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18935 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.2"; "Attributed"@en . _:ce96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.2"; "NTBT (narrower term maps to a broader term)"@en . _:ce98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.2"; "ORDO:2785/attributed", "ORDO:2785/ntbt", "Orphanet:2785" . _:ce9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.89"; "MONDO:relatedTo", "i2s" . _:ce9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536058"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2785/e", "Orphanet:2785" . _:ce9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536058"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C118438"; "MONDO:equivalentTo" . _:cea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:259730"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:259730"; "DOID:0110941", "MONDO:equivalentTo", "ORDO:2785/e", "Orphanet:2785" . _:cea5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:267200"; "BTNT (broader term maps to a narrower term)"@en . _:cea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254122007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:cea7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849435"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal Recessive osteopetrosis, type 3"; "NCIT:C118438" . _:cea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CA2 osteopetrosis (disease)"; "MONDO:patterns/disease_series_by_gene" . _:ceaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Guibaud-Vainsel syndrome"; "DOID:0110941", "Orphanet:2785" . _:ceabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPTB3"; "DOID:0110941", "MONDO:Lexical", "OMIM:259730" . _:cec7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive osteopetrosis 3"; rdfs:comment "preferred label from MONDO" . _:cecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive osteopetrosis 3 with renal tubular acidosis"; "DOID:0110941" . _:cecbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive osteopetrosis type 3"; "DOID:0110941", "MONDORULE:1" . _:ceced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carbonic anhydrase 2 deficiency"; "Orphanet:2785" . _:cecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carbonic anhydrase II deficiency"; "DOID:0110941" . _:ced1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "marble brain disease"; "DOID:0110941", "Orphanet:2785" . _:ced2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed RTA"; "Orphanet:2785" . _:ced8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed renal tubular acidosis"; "Orphanet:2785" . _:cedad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis with renal tubular acidosis"; "DOID:0110941", "OMIM:259730" . _:ceded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis, autosomal recessive type 3"; "MONDORULE:1", "OMIM:259730" . _:cee1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular acidosis type 3"; "Orphanet:2785" . _:cee2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Guibaud Vainsel syndrome"; "GARD:0004154" . _:cee3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis autosomal recessive 3"; "GARD:0004154" . _:cee4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis, autosomal recessive 3"; "MONDO:Lexical", "OMIM:259730" . _:cee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis, autosomal recessive 3; OPTB3"; "OMIM:259730" . _:cee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004154" . _:ceead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2785" . _:ceecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3"^^xsd:anyURI; "GARD:0004154" . a owl:Class; rdfs:subClassOf ; rdfs:label "Primary organ-specific lymphoma"@en; "ORPHA:279911" . a owl:Class; rdfs:subClassOf , , , ; "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).", "v2)."; , ; "Adenosylcobalamin deficiency"@en, "Vitamin B12-responsive methylmalonic aciduria"@en; "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)."@en; "orphanet", "orphanet"@en; "GARD:0012623", "ICD-10:E71.1", "ICD10:E71.1", "MONDO:0017214", "OMIM:251100", "OMIM:251110", "OMIM:277410", "SCTID:69614003"; "Adenosylcobalamin deficiency", "Vitamin B12-responsive methylmalonic aciduria", "adenosylcobalamin deficiency", "vitamin B12-responsive methylmalonic acidemia"; "Orphanet:28"; , ; rdfs:label "Vitamin B12-responsive methylmalonic acidemia", "Vitamin B12-responsive methylmalonic acidemia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia"^^xsd:anyURI; "ORPHA:28" . _:cef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)."; "Orphanet:28" . _:cef4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012623"; "MONDO:equivalentTo" . _:cef5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18972; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:cef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "NTBT (narrower term maps to a broader term)"@en . _:cef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "ORDO:28/inclusion", "ORDO:28/ntbt", "Orphanet:28" . _:cef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251100"; "BTNT (broader term maps to a narrower term)"@en . _:cefad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251110"; "BTNT (broader term maps to a narrower term)"@en . _:cefbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277410"; "BTNT (broader term maps to a narrower term)"@en . _:cefdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:69614003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.57" . _:cf01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin B12-responsive methylmalonic aciduria"; "Orphanet:28" . _:cf02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenosylcobalamin deficiency"; "Orphanet:28" . _:cf03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin B12-responsive methylmalonic acidemia"; rdfs:comment "preferred label from MONDO" . _:cf05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012623" . _:cf08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:28" . _:cf09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia"^^xsd:anyURI; "GARD:0012623" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia."; , ; , , , , , , , , , , , ; "4p- syndrome"@en, "Distal deletion 4p"@en, "Distal monosomy 4p"@en, "Telomeric deletion 4p"@en; "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia."@en; "orphanet", "orphanet"@en; "DOID:0050460", "GARD:0007896", "ICD-10:Q93.3", "ICD10:Q93.3", "MESH:D054877", "MONDO:0008684", "MSH:C536740", "MSH:D054877", "MeSH:C536740", "MeSH:D054877", "MedDRA:10050361", "NCIT:C35528", "OMIM:194190", "SCTID:718226002", "UMLS:C0796117", "UMLS:C0796202", "UMLS:C1956097", "UMLS:CN207113"; "4p deletion syndrome", "4p- syndrome", "Distal deletion 4p", "Distal monosomy 4p", "Pitt syndrome", "Pitt-Rogers-Danks syndrome", "Telomeric deletion 4p", "Wittwer syndrome", "Wolf-Hirschhorn syndrome", "chromosome 4p16.3 deletion syndrome", "distal deletion 4p", "distal monosomy 4p", "telomeric deletion 4p"; "4p syndrome", "WHS", "WOLF-Hirschhorn syndrome; WHS", "Wolf syndrome", "chromosome 4P16.3 deletion syndrome", "chromosome 4p syndrome", "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation"; "Orphanet:280"; , ; rdfs:label "Wolf-Hirschhorn syndrome", "Wolf-Hirschhorn syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome"^^xsd:anyURI; "ORPHA:280" . _:cf18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia."; "Orphanet:280" . _:cf1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050460"; "MONDO:equivalentTo" . _:cf1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007896"; "MONDO:equivalentTo" . _:cf1ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid18989; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid18989 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q93.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:cf1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q93.3"; "NTBT (narrower term maps to a broader term)"@en . _:cf20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.3"; "DOID:0050460", "MONDO:directSiblingOf", "ORDO:280/inclusion", "ORDO:280/ntbt", "Orphanet:280" . _:cf21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D054877"; "DOID:0050460", "MONDO:equivalentTo", "ORDO:280/e", "Orphanet:280" . _:cf23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536740"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cf26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054877"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cf28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050361"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cf29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050361"; "ORDO:280/e", "Orphanet:280" . _:cf2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35528"; "DOID:0050460", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:cf2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194190"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cf30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194190"; "DOID:0050460", "MONDO:equivalentTo", "ORDO:280/e", "Orphanet:280" . _:cf31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718226002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.62" . _:cf32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796117"; "DOID:0050460", "MEDGEN:kboom-pr90-c94", "MONDO:equivalentTo" . _:cf34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796202"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:cf36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1956097"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cf38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1956097"; "DOID:0050460", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C35528", "OMIM:194190", "ORDO:280/e", "Orphanet:280" . _:cf3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207113"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:cf3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "4p deletion syndrome"; "DOID:0050460" . _:cf3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "4p- syndrome"; "Orphanet:280" . _:cf3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pitt syndrome"; "DOID:0050460" . _:cf40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pitt-Rogers-Danks syndrome"; "DOID:0050460", "OMIM:194190" . _:cf41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wittwer syndrome"; "OMIM:194190" . _:cf43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolf-Hirschhorn syndrome"; "MONDO:Lexical", "OMIM:194190" . _:cf45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolf-Hirschhorn syndrome"; rdfs:comment "preferred label from MONDO" . _:cf48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 4p16.3 deletion syndrome"; "DOID:0050460" . _:cf4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal deletion 4p"; "Orphanet:280" . _:cf4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal monosomy 4p"; "Orphanet:280" . _:cf51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "telomeric deletion 4p"; "Orphanet:280" . _:cf53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "4p syndrome"; "GARD:0007896" . _:cf55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHS"; "MONDO:Lexical", "OMIM:194190" . _:cf56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WOLF-Hirschhorn syndrome; WHS"; "OMIM:194190" . _:cf57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolf syndrome"; "GARD:0007896" . _:cf58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 4P16.3 deletion syndrome"; "OMIM:194190" . _:cf5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 4p syndrome"; "GARD:0007896" . _:cf5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation"; "GARD:0007896" . _:cf5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007896" . _:cf5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280" . _:cf60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome"^^xsd:anyURI; "GARD:0007896" . a owl:Class; rdfs:subClassOf ; "An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page."@en; "orphanet"@en; "ICD-10:E83.5", "MedDRA:10051714", "UMLS:C0006666"; rdfs:label "Calciphylaxis"@en; "ORPHA:280062" . _:cf66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "NTBT (narrower term maps to a broader term)"@en . _:cf68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051714"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cf69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006666"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease."; , , , , , , ; "C3 deficiency"@en; "Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure."@en; "orphanet"@en; "DOID:8354", "ICD-10:D84.1", "ICD10:D84.1", "MESH:C565169", "MONDO:0013417", "NCIT:C9468", "OMIM:613779", "UMLS:C1332655", "UMLS:C3151071"; "C3 classic complement early component deficiency", "C3 deficiency", "classic complement early component deficiency caused by mutation in C3", "complement component 3 deficiency"; "C3 deficiency, autosomal recessive", "C3d", "complement component 3 deficiency, autosomal recessive", "complement component 3 deficiency, autosomal recessive; C3d"; "Orphanet:280133"; ; rdfs:label "Complement component 3 deficiency", "Complement component 3 deficiency"@en; "ORPHA:280133" . _:cf6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease."; "NCIT:P378" . _:cf6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8354"; "MONDO:equivalentTo" . _:cf6dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19033; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19033 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:cf70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:cf72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:280133/attributed", "ORDO:280133/ntbt", "Orphanet:280133" . _:cf73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C565169"; "MONDO:equivalentTo", "MONDO:ontobio" . _:cf74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C9468"; "DOID:8354", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:cf76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613779"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cf78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613779"; "DOID:8354", "MONDO:equivalentTo", "ORDO:280133/e", "Orphanet:280133" . _:cf84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1332655"; "DOID:8354", "MEDGEN:kboom-pr93-c96", "MONDO:equivalentTo", "NCIT:C9468" . _:cf86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151071"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cf8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151071"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613779", "Orphanet:280133" . _:cf8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C3 classic complement early component deficiency"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:cf90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C3 deficiency"; "DOID:8354", "Orphanet:280133" . _:cf91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic complement early component deficiency caused by mutation in C3"; "MONDO:design_pattern" . _:cf92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement component 3 deficiency"; rdfs:comment "preferred label from MONDO" . _:cf94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C3 deficiency, autosomal recessive"; "OMIM:613779" . _:cf96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C3d"; "MONDO:Lexical", "OMIM:613779" . _:cf98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement component 3 deficiency, autosomal recessive"; "MONDO:Lexical", "OMIM:613779" . _:cf99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement component 3 deficiency, autosomal recessive; C3d"; "OMIM:613779" . _:cf9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280133" . a owl:Class; rdfs:subClassOf , ; , , ; "SCID due to LCK deficiency"@en, "SCID due to lymphocyte-specific protein tyrosine kinase deficiency"@en, "Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"@en; "A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity."@en; "orphanet"@en; "ICD-10:D81.1", "ICD10:D81.1", "MONDO:0014334", "OMIM:615758", "UMLS:C4014233"; "SCID due to LCK deficiency", "SCID due to lymphocyte-specific protein tyrosine kinase deficiency", "Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency", "immunodeficiency type 22", "severe combined immunodeficiency due to LCK deficiency", "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"; "IMD22", "immunodeficiency 22", "immunodeficiency 22; IMD22"; "Orphanet:280142"; ; rdfs:label "Severe combined immunodeficiency due to LCK deficiency", "Severe combined immunodeficiency due to LCK deficiency"@en; "ORPHA:280142" . _:cf9fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19053; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19053 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "Attributed"@en . _:cfa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "NTBT (narrower term maps to a broader term)"@en . _:cfa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.1"; "ORDO:280142/attributed", "ORDO:280142/ntbt", "Orphanet:280142" . _:cfa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615758"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cfa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615758"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:cfa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615758"; "MONDO:equivalentTo", "ORDO:280142/e", "Orphanet:280142" . _:cfa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4014233"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:cfa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to LCK deficiency"; "Orphanet:280142" . _:cfa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to lymphocyte-specific protein tyrosine kinase deficiency"; "Orphanet:280142" . _:cfaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 22"; "MONDORULE:2", "OMIM:615758" . _:cfabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to LCK deficiency"; rdfs:comment "preferred label from MONDO" . _:cfacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"; "Orphanet:280142" . _:cfb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD22"; "MONDO:Lexical", "OMIM:615758" . _:cfb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 22"; "MONDO:Lexical", "OMIM:615758" . _:cfb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 22; IMD22"; "OMIM:615758" . _:cfb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280142" . a owl:Class; rdfs:subClassOf , , ; "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported."; , , , ; "Methylmalonic acidemia, TCb1R type"@en, "Methylmalonic acidemia, TCbIR type"@en; "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported."@en; "orphanet"@en; "DOID:0060741", "ICD-10:E71.1", "ICD10:E71.1", "MONDO:0013341", "OMIM:613646", "UMLS:C3150900"; "CD320 methylmalonic acidemia", "Methylmalonic acidemia, TCb1R type", "Methylmalonic acidemia, TCbIR type", "methylmalonic acidemia caused by mutation in CD320", "methylmalonic acidemia due to transcobalamin receptor defect", "methylmalonic acidemia, TCb1R type", "methylmalonic acidemia, TCbIR type", "methylmalonic aciduria due to transcobalamin receptor defect"; "methylmalonic acidemia, Tcblr type", "methylmalonic aciduria, transient, due to transcobalamin receptor defect"; "Orphanet:280183"; ; rdfs:label "Methylmalonic aciduria due to transcobalamin receptor defect", "Methylmalonic aciduria due to transcobalamin receptor defect"@en; "ORPHA:280183" . _:cfbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported."; "Orphanet:280183" . _:cfbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060741"; "MONDO:equivalentTo" . _:cfbfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19072; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "Attributed"@en . _:cfc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "NTBT (narrower term maps to a broader term)"@en . _:cfc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "DOID:0060741", "ORDO:280183/attributed", "ORDO:280183/ntbt", "Orphanet:280183" . _:cfc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613646"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:cfcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613646"; "DOID:0060741", "MONDO:equivalentTo", "ORDO:280183/e", "Orphanet:280183" . _:cfced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3150900"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613646" . _:cfcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CD320 methylmalonic acidemia"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:cfd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia caused by mutation in CD320"; "MONDO:design_pattern" . _:cfd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia due to transcobalamin receptor defect"; rdfs:comment "preferred label from MONDO" . _:cfd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia, TCb1R type"; "DOID:0060741", "Orphanet:280183" . _:cfd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia, TCbIR type"; "DOID:0060741", "Orphanet:280183" . _:cfdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria due to transcobalamin receptor defect"; "DOID:0060741", "OMIM:613646" . _:cfdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia, Tcblr type"; "OMIM:613646" . _:cfdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria, transient, due to transcobalamin receptor defect"; "OMIM:613646" . _:cfddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:280183" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare systemic or rheumatological disease of childhood"@en; "ORPHA:280342" . a owl:Class; rdfs:subClassOf ; "CPP"@en, "Choroid plexus papilloma"@en; "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure."@en; "orphanet"@en; "ICD-10:D33.0", "MeSH:D020288", "MedDRA:10008777", "OMIM:260500", "UMLS:C0205770"; rdfs:label "Papilloma of choroid plexus"@en; "ORPHA:2807" . _:cfded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D33.0"; "NTBT (narrower term maps to a broader term)"@en . _:cfffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020288"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d002d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008777"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d003d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:260500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d005d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0205770"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "A inherited ichthyosis that is not part of a larger syndrome."; ; "MONDO:0017262"; "inherited non-syndromic ichthyosis", "isolated inherited ichthyosis", "nonsyndromic inherited ichthyosis"; "Orphanet:281082"; ; rdfs:label "Inherited non-syndromic ichthyosis", "Inherited non-syndromic ichthyosis"@en; "ORPHA:281082" . _:d00cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A inherited ichthyosis that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:d010d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited non-syndromic ichthyosis"; rdfs:comment "preferred label from MONDO" . _:d012d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic inherited ichthyosis"; "MONDO:patterns/isolated" . _:d015d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281082" . a owl:Class; rdfs:subClassOf , ; "A inherited ichthyosis that is part of a larger syndrome."; ; "MONDO:0017263"; "inherited ichthyosis syndromic form", "syndrome associated with inherited ichthyosis", "syndromic inherited ichthyosis"; "syndrome associated with inherited ichthyosis"; "Orphanet:281085"; ; rdfs:label "Inherited ichthyosis syndromic form", "Inherited ichthyosis syndromic form"@en; "ORPHA:281085" . _:d01ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A inherited ichthyosis that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:d01cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited ichthyosis syndromic form"; rdfs:comment "preferred label from MONDO" . _:d01dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with inherited ichthyosis"; "MONDO:patterns/syndromic" . _:d01ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic inherited ichthyosis"; "MONDO:patterns/syndromic" . _:d01fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with inherited ichthyosis"; "MONDO:patterns/syndromic" . _:d020d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281085" . a owl:Class; rdfs:subClassOf , , ; "Autosomal recessive form of inherited ichthyosis."; , ; ; "ARCI"@en; "DOID:0060655", "ICD10:Q80", "MONDO:0017265", "OMIM:617320", "OMIMPS:242300"; "ARCI", "autosomal recessive congenital ichthyosis", "autosomal recessive inherited ichthyosis", "ichthyosis, congenital, autosomal recessive", "inherited ichthyosis, autosomal recessive"; "Orphanet:281097"; ; rdfs:comment "Editor note: ORDO classifies as non-syndromic but syndromic forms exist"; rdfs:label "Autosomal recessive congenital ichthyosis", "Autosomal recessive congenital ichthyosis"@en; "ORPHA:281097" . _:d022d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive form of inherited ichthyosis."; "MONDO:patterns/autosomal_recessive" . _:d024d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281097" . _:d025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060655"; "MONDO:equivalentTo" . _:d027d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:242300"; "DOID:0060655", "MONDO:equivalentTo" . _:d029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARCI"; "DOID:0060655", "Orphanet:281097" . _:d02ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive congenital ichthyosis"; rdfs:comment "preferred label from MONDO" . _:d02bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, congenital, autosomal recessive"; "OMIMPS:242300" . _:d02cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited ichthyosis, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:d02dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281097" . a owl:Class; rdfs:subClassOf , ; "X-linked form of inherited ichthyosis syndromic form."; , , ; "MONDO:0017269", "MedDRA:10048063", "UMLS:C0079588"; "X-linked ichthyosis syndrome", "X-linked inherited ichthyosis syndromic form", "inherited ichthyosis syndromic form, X-linked"; "Orphanet:281210"; ; rdfs:comment "Editor note: check relationship to syndromic recessive X-linked ichthyosis"; rdfs:label "X-linked ichthyosis syndrome" . _:d032d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked form of inherited ichthyosis syndromic form."; "MONDO:patterns/x_linked" . _:d034d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048063"; "ORDO:281210/e", "Orphanet:281210" . _:d035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked ichthyosis syndrome"; rdfs:comment "preferred label from MONDO" . _:d037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked inherited ichthyosis syndromic form"; "MONDO:design_pattern" . _:d03bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited ichthyosis syndromic form, X-linked"; "MONDO:patterns/x_linked" . _:d03cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281210" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017270", "UMLS:CN202791"; "autosomal ichthyosis syndrome"; "Orphanet:281217"; ; rdfs:label "Autosomal ichthyosis syndrome", "Autosomal ichthyosis syndrome"@en; "ORPHA:281217" . _:d041d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202791"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d045d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal ichthyosis syndrome"; rdfs:comment "preferred label from MONDO" . _:d047d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281217" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017271", "UMLS:CN202792"; "autosomal ichthyosis syndrome with prominent hair abnormalities"; "Orphanet:281222"; ; rdfs:label "Autosomal ichthyosis syndrome with prominent hair abnormalities" . _:d048d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202792"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal ichthyosis syndrome with prominent hair abnormalities"; rdfs:comment "preferred label from MONDO" . _:d04ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281222" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017272", "UMLS:CN202793"; "autosomal ichthyosis syndrome with prominent neurologics signs"; "autosomal ichthyosis syndrome with prominent neurologic signs"; "Orphanet:281238"; ; rdfs:label "Autosomal ichthyosis syndrome with prominent neurologics signs" . _:d04bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202793"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d04dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal ichthyosis syndrome with prominent neurologics signs"; rdfs:comment "preferred label from MONDO" . _:d04ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal ichthyosis syndrome with prominent neurologic signs"; "Orphanet:281238" . _:d052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281238" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017273", "UMLS:CN202794"; "autosomal ichthyosis syndrome with fatal disease course"; "Orphanet:281241"; ; rdfs:label "Autosomal ichthyosis syndrome with fatal disease course" . _:d058d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202794"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d05ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal ichthyosis syndrome with fatal disease course"; rdfs:comment "preferred label from MONDO" . _:d05cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:281241" . a owl:Class; rdfs:subClassOf ; "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)."; , ; , , , , , , ; ; "orphanet"; "true"; "COHD:4043378", "DOID:9255", "GARD:0008436", "ICD10:G31.0", "MESH:D057180", "MONDO:0017276", "MSH:D057180", "MedDRA:10068968", "NCIT:C84719", "OMIM:172700", "OMIM:600274", "OMIM:600795", "OMIM:607485", "UMLS:C0338451", "UMLS:C0520716"; "FTD", "Wilhemsen-Lynch disease", "frontotemporal dementia", "frontotemporal lobar degeneration", "multiple system tauopathy with presenile dementia", "pallidopontonigral degeneration"; "MSTD", "frontotemporal lobe dementia (FLDEM)"; "Orphanet:282"; ; rdfs:label "Frontotemporal dementia" . _:d06ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)."; "Orphanet:282" . _:d06bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:9255" . _:d06fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4043378"; "MONDO:equivalentTo" . _:d070d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9255"; "MONDO:equivalentTo" . _:d074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008436"; "MONDO:equivalentTo", "Orphanet-shared" . _:d075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G31.0"; "ORDO:282/attributed", "ORDO:282/ntbt", "Orphanet:282" . _:d078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D057180"; "MONDO:equivalentTo", "ORDO:282/e", "Orphanet:282" . _:d079d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068968"; "ORDO:282/e", "Orphanet:282" . _:d07ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84719"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:d07cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0338451"; "MONDO:equivalentTo", "NCIT:C84719", "ORDO:282/e", "Orphanet:282" . _:d07fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0520716"; "DOID:9255", "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:d081d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FTD"; "Orphanet:282" . _:d082d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilhemsen-Lynch disease"; "DOID:9255" . _:d083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "frontotemporal dementia"; rdfs:comment "preferred label from MONDO" . _:d084d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "frontotemporal lobar degeneration"; "DOID:9255" . _:d088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple system tauopathy with presenile dementia"; "DOID:9255" . _:d08ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pallidopontonigral degeneration"; "DOID:9255" . _:d08bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSTD"; "GARD:0008436" . _:d08dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "frontotemporal lobe dementia (FLDEM)"; "GARD:0008436" . _:d08ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:282" . a owl:Class; rdfs:subClassOf , , , ; "Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."; , , ; "Early-onset Parkinson disease"@en, "YOPD"@en; "Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."@en; "orphanet", "orphanet"@en; "true"; "DOID:0060894", "ICD-10:G20", "ICD10:G20", "MONDO:0017279", "OMIM:168601", "OMIM:300557", "OMIM:600116", "OMIM:602404", "OMIM:605543", "OMIM:605909", "OMIM:606324", "OMIM:606852", "OMIM:607060", "OMIM:607688", "OMIM:610297", "OMIM:613643", "OMIM:614203", "OMIM:614251", "OMIM:615528", "OMIM:616840", "SCTID:715345007"; "Early-onset Parkinson disease", "YOPD", "Young-onset Parkinson disease", "early-onset Parkinson disease", "young-onset Parkinson disease"; "early-onset Parkinson's disease"; "Orphanet:2828"; ; rdfs:label "Young adult-onset Parkinsonism", "Young-onset Parkinson disease"@en; "ORPHA:2828" . _:d096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."; "Orphanet:2828" . _:d097d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060894"; "MONDO:equivalentTo" . _:d099d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19153; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19153 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G20"; "Attributed"@en . _:d09cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G20"; "NTBT (narrower term maps to a broader term)"@en . _:d09ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G20"; "ORDO:2828/attributed", "ORDO:2828/ntbt", "Orphanet:2828" . _:d0a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300557"; "BTNT (broader term maps to a narrower term)"@en . _:d0a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600116"; "BTNT (broader term maps to a narrower term)"@en . _:d0a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602404"; "BTNT (broader term maps to a narrower term)"@en . _:d0a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605909"; "BTNT (broader term maps to a narrower term)"@en . _:d0a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606324"; "BTNT (broader term maps to a narrower term)"@en . _:d0a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606852"; "BTNT (broader term maps to a narrower term)"@en . _:d0a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610297"; "BTNT (broader term maps to a narrower term)"@en . _:d0aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613643"; "BTNT (broader term maps to a narrower term)"@en . _:d0abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615528"; "NTBT (narrower term maps to a broader term)"@en . _:d0acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615528"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:d0add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616840"; "BTNT (broader term maps to a narrower term)"@en . _:d0aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616840"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:d0afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715345007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.72" . _:d0b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YOPD"; "Orphanet:2828" . _:d0b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset Parkinson disease"; "Orphanet:2828" . _:d0b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "young-onset Parkinson disease"; rdfs:comment "preferred label from MONDO" . _:d0b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset Parkinson's disease"; "DOID:0060894" . _:d0bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2828" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies."; ; , , , , ; "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy"@en, "Progressive encephalopathy-optic atrophy syndrome"@en; "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies."@en; "orphanet"@en; "GARD:0004264", "ICD-10:G31.8", "ICD10:G31.8", "MESH:C536317", "MONDO:0009841", "MSH:C536317", "MeSH:C536317", "OMIM:260565", "UMLS:C0796122", "UMLS:C1850055"; "PEHO syndrome", "Progressive encephalopathy - optic atrophy", "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy", "peho syndrome", "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy", "progressive encephalopathy-optic atrophy syndrome"; "infantile Cerebellooptic atrophy", "peho", "peho syndrome; peho", "peho-like syndrome", "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy"; "Orphanet:2836"; , ; rdfs:label "PEHO syndrome", "PEHO syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome"^^xsd:anyURI; "ORPHA:2836" . _:d0c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies."; "Orphanet:2836" . _:d0cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004264"; "MONDO:equivalentTo" . _:d0ccd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19177; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19177 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G31.8"; "Attributed"@en . _:d0ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G31.8"; "NTBT (narrower term maps to a broader term)"@en . _:d0d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G31.8"; "ORDO:2836/attributed", "ORDO:2836/ntbt", "Orphanet:2836" . _:d0d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536317"; "MONDO:equivalentTo", "ORDO:2836/e", "Orphanet:2836" . _:d0d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536317"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d0d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:260565"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d0d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:260565"; "MONDO:equivalentTo", "ORDO:2836/e", "Orphanet:2836" . _:d0d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796122"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d0d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850055"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d0d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850055"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:260565", "ORDO:2836/e", "Orphanet:2836" . _:d0dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEHO syndrome"; rdfs:comment "preferred label from MONDO" . _:d0dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peho syndrome"; "OMIM:260565" . _:d0dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy"; "Orphanet:2836" . _:d0ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive encephalopathy-optic atrophy syndrome"; "Orphanet:2836" . _:d0ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile Cerebellooptic atrophy"; "OMIM:260565" . _:d0dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peho"; "OMIM:260565" . _:d0e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peho syndrome; peho"; "OMIM:260565" . _:d0e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peho-like syndrome"; "OMIM:260565" . _:d0e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy"; "OMIM:260565" . _:d0e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004264" . _:d0e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2836" . _:d0e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome"^^xsd:anyURI; "GARD:0004264" . a owl:Class; rdfs:subClassOf ; "Echinococcus multilocularis infection"@en; "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice."@en; "orphanet"@en; "ICD-10:B67.5", "ICD-10:B67.6", "ICD-10:B67.7", "MeSH:C536591", "MedDRA:10053042", "UMLS:C0948954"; rdfs:label "Alveolar echinococcosis"@en; "ORPHA:284" . _:d0edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.5"; "BTNT (broader term maps to a narrower term)"@en . _:d0eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.6"; "BTNT (broader term maps to a narrower term)"@en . _:d0f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.7"; "BTNT (broader term maps to a narrower term)"@en . _:d0f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536591"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d0f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053042"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d0f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0948954"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome."; , , , ; "ICD10:K83.1", "ICD9:576.8", "MONDO:0017290", "SCTID:74162007", "UMLS:CN227107", "UMLS:CN239338"; "familial intrahepatic cholestasis", "hereditary intrahepatic cholestasis"; "Orphanet:284385"; ; rdfs:label "Familial intrahepatic cholestasis" . _:d0f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:d0f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K83.1"; "ORDO:284385/attributed", "ORDO:284385/ntbt", "Orphanet:284385" . _:d0f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:576.8"; "MONDO:relatedTo", "i2s" . _:d0f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:74162007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.72" . _:d0f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227107"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d0fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239338"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d0fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial intrahepatic cholestasis"; rdfs:comment "preferred label from MONDO" . _:d0fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary intrahepatic cholestasis"; "MONDO:patterns/hereditary" . _:d0ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284385" . a owl:Class; rdfs:subClassOf , , ; "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia."; , , , , , ; "PSAT deficiency"@en; "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia."@en; "orphanet", "orphanet"@en; "DOID:0050723", "GARD:0013273", "ICD-10:E72.8", "ICD10:E72.8", "MESH:C567032", "MONDO:0012596", "OMIM:610992", "SCTID:718603002", "UMLS:C1970253"; "PSAT deficiency", "phosphoserine aminotransferase deficiency"; "PSATD", "phosphoserine aminotransferase deficiency; PSATD"; "Orphanet:284417"; ; rdfs:label "Phosphoserine aminotransferase deficiency", "Phosphoserine aminotransferase deficiency"@en; "ORPHA:284417" . _:d104d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia."; "Orphanet:284417" . _:d107d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050723"; "MONDO:equivalentTo" . _:d109d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013273"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:d121d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19218; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19218 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "Attributed"@en . _:d124d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "NTBT (narrower term maps to a broader term)"@en . _:d127d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.8"; "ORDO:284417/attributed", "ORDO:284417/ntbt", "Orphanet:284417" . _:d129d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567032"; "MONDO:equivalentTo", "MONDO:ontobio" . _:d12ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610992"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d12bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610992"; "DOID:0050723", "MONDO:equivalentTo", "ORDO:284417/e", "Orphanet:284417" . _:d12cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718603002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:d12dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970253"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d12ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970253"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:610992", "Orphanet:284417" . _:d130d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSAT deficiency"; "OMIM:610992", "Orphanet:284417" . _:d133d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSAT deficiency"; rdfs:comment "preferred label from MONDO" . _:d134d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphoserine aminotransferase deficiency"; "DOID:0050723", "MONDO:Lexical", "OMIM:610992" . _:d137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSATD"; "MONDO:Lexical", "OMIM:610992" . _:d13bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphoserine aminotransferase deficiency; PSATD"; "OMIM:610992" . _:d13dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284417" . a owl:Class; rdfs:subClassOf , , ; "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue ( rhabdomyolysis ), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern."; , ; , , , ; "GSD due to lactate dehydrogenase M-subunit deficiency"@en, "GSD type 11"@en, "Glycogen storage disease type 11"@en, "Glycogenosis due to lactate dehydrogenase M-subunit deficiency"@en, "Glycogenosis type 11"@en, "LDH-M subunit deficiency"@en, "Lactate dehydrogenase A deficiency"@en; "GARD:0003160", "HGNC:6535", "ICD-10:E74.0", "ICD10:E74.0", "ICD9:271.8", "MESH:C538133", "MONDO:0013047", "OMIM:612933", "SCTID:237982007", "UMLS:C2931743"; "GSD due to lactate dehydrogenase M-subunit deficiency", "GSD type 11", "Glycogen storage disease type 11", "Glycogenosis due to lactate dehydrogenase M-subunit deficiency", "Glycogenosis type 11", "LDH-M subunit deficiency", "LDHA glycogen storage disease", "Lactate dehydrogenase A deficiency", "glycogen storage disease caused by mutation in LDHA", "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency", "glycogenosis due to lactate dehydrogenase M-subunit deficiency", "lactate dehydrogenase A deficiency"; "GSD 11", "GSD XI", "GSD type 11", "GSD11", "glycogen storage disease XI", "glycogen storage disease XI; GSD11", "glycogen storage disease type 11", "glycogenosis type 11", "lactate dehydrogenase deficiency type A"; "Orphanet:284426"; , ; rdfs:label "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency", "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency"^^xsd:anyURI; "ORPHA:284426" . _:d145d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue ( rhabdomyolysis ), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern."; "GARD:0003160" . _:d147d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003160"; "MONDO:equivalentTo" . _:d14cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGNC:6535"; "GARD:0003160" . _:d14dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19237; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19237 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Attributed"@en . _:d14ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:d150d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:284426/attributed", "ORDO:284426/ntbt", "Orphanet:284426" . _:d153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.8"; "MONDO:relatedTo", "i2s" . _:d157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538133"; "MONDO:equivalentTo" . _:d158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612933"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d15ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612933"; "MONDO:equivalentTo", "ORDO:284426/e", "Orphanet:284426" . _:d15cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237982007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.64" . _:d15fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931743"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to lactate dehydrogenase M-subunit deficiency"; "Orphanet:284426" . _:d163d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LDH-M subunit deficiency"; "Orphanet:284426" . _:d165d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LDHA glycogen storage disease"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:d167d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease caused by mutation in LDHA"; "MONDO:design_pattern" . _:d169d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"; rdfs:comment "preferred label from MONDO" . _:d16ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to lactate dehydrogenase M-subunit deficiency"; "Orphanet:284426" . _:d16cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lactate dehydrogenase A deficiency"; "MESH:C538133", "OMIM:612933", "Orphanet:284426" . _:d16fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD 11"; "OMIM:612933"; . _:d170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD XI"; "MESH:C538133" . _:d171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 11"; "Orphanet:284426"; . _:d172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD11"; "MESH:C538133", "OMIM:612933"; . _:d173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease XI"; "GARD:0003160", "MESH:C538133" . _:d176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease XI; GSD11"; "OMIM:612933"; . _:d179d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 11"; "MONDORULE:2", "OMIM:612933", "Orphanet:284426"; . _:d17ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type 11"; "Orphanet:284426"; . _:d17bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lactate dehydrogenase deficiency type A"; "GARD:0003160" . _:d17cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284426" . _:d17dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency"^^xsd:anyURI; "GARD:0003160" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0017303"; "qualitative or quantitative defects of tropomyosin"; "Orphanet:284790"; ; rdfs:label "Qualitative or quantitative defects of tropomyosin" . _:d17fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of tropomyosin"; rdfs:comment "preferred label from MONDO" . _:d181d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284790" . a owl:Class; rdfs:subClassOf , , ; "A oculocutaneous albinism that is part of a larger syndrome."; , ; "ICD10:E70.3", "MONDO:0017305", "UMLS:CN227111"; "syndrome associated with oculocutaneous albinism", "syndromic oculocutaneous albinism"; "syndrome associated with oculocutaneous albinism"; "Orphanet:284811"; ; rdfs:label "Syndromic oculocutaneous albinism" . _:d186d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A oculocutaneous albinism that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:d188d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.3"; "MONDO:relatedTo", "ORDO:284811/attributed", "ORDO:284811/ntbt", "Orphanet:284811" . _:d18ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227111"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d18bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with oculocutaneous albinism"; "MONDO:patterns/syndromic" . _:d18dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic oculocutaneous albinism"; "MONDO:patterns/syndromic" . _:d18ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic oculocutaneous albinism"; rdfs:comment "preferred label from MONDO" . _:d18fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with oculocutaneous albinism"; "MONDO:patterns/syndromic" . _:d190d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284811" . a owl:Class; rdfs:subClassOf , ; , , ; "ICD10:E70.0", "ICD10:E70.1", "ICD9:270.8", "MONDO:0017306", "SCTID:12957008", "UMLS:C0268461"; "disorder of phenylalanine metabolism"; "Orphanet:284814"; ; rdfs:label "Disorder of phenylalanine metabolism" . _:d191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.0"; "ORDO:284814/btnt", "ORDO:284814/specific", "Orphanet:284814" . _:d195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.1"; "ORDO:284814/btnt", "ORDO:284814/specific", "Orphanet:284814" . _:d196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:d198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:12957008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:d19ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268461"; "MONDO:equivalentTo", "ORDO:284814/e", "Orphanet:284814" . _:d19cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of phenylalanine metabolism"; rdfs:comment "preferred label from MONDO" . _:d19dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284814" . a owl:Class; rdfs:subClassOf , ; , , ; "ICD10:E70.2", "ICD9:270.2", "MONDO:0017307", "SCTID:37200009", "UMLS:CN202881"; "disorder of tyrosine metabolism"; "Orphanet:284818"; ; rdfs:label "Disorder of tyrosine metabolism" . _:d1a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.2"; "ORDO:284818/e", "ORDO:284818/specific", "Orphanet:284818" . _:d1a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.2"; "MONDO:relatedTo", "i2s" . _:d1a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:37200009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:d1a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202881"; "MONDO:equivalentTo" . _:d1a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of tyrosine metabolism"; rdfs:comment "preferred label from MONDO" . _:d1a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284818" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017310", "UMLS:CN227112"; "Marfan and Marfan-related disorder"; "Orphanet:284993"; ; rdfs:label "Marfan and Marfan-related disorder" . _:d1aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227112"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d1afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marfan and Marfan-related disorder"; rdfs:comment "preferred label from MONDO" . _:d1b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284993" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:I71.1", "ICD10:I71.2", "MONDO:0017311", "UMLS:CN202889"; "rare disease with thoracic aortic aneurysm and aortic dissection"; "Orphanet:285014"; , ; rdfs:label "Rare disease with thoracic aortic aneurysm and aortic dissection" . _:d1b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I71.1"; "ORDO:285014/attributed", "ORDO:285014/ntbt", "Orphanet:285014" . _:d1b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I71.2"; "ORDO:285014/attributed", "ORDO:285014/ntbt", "Orphanet:285014" . _:d1bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202889"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d1bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disease with thoracic aortic aneurysm and aortic dissection"; rdfs:comment "preferred label from MONDO" . _:d1bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:285014" . a owl:Class; rdfs:subClassOf , , , , ; "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys."; , , , , , , ; "PMDS"@en, "Persistent Müllerian derivatives"@en; "Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys."@en; "orphanet"@en; "DOID:0050791", "GARD:0008435", "ICD-10:Q55.8", "ICD10:Q55.8", "ICD9:752.89", "MESH:C536665", "MONDO:0009857", "MSH:C536665", "MeSH:C536665", "NCIT:C120188", "OMIM:261550", "SCTID:702358005", "UMLS:C1849930"; "PMDS", "Persistent Müllerian derivatives", "persistent Muellerian duct syndrome", "persistent Mullerian derivatives", "persistent Mullerian duct syndrome", "persistent Müllerian derivatives"; "female genital ducts in otherwise Normal Male", "female genital ducts in otherwise normal male", "hernia uteri inguinale", "persistent MULLERIAN duct syndrome, types I and II", "persistent MULLERIAN duct syndrome, types I and II; PMDS", "persistent Müllerian duct syndrome", "persistent mullerian duct syndrome, types 1 and 2", "persistent oviduct syndrome", "pseudohermaphroditism, Male internal"; "Orphanet:2856"; , ; rdfs:label "Persistent Müllerian duct syndrome", "Persistent Müllerian duct syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome"^^xsd:anyURI; "ORPHA:2856" . _:d1c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys."; "Orphanet:2856" . _:d1cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050791"; "MONDO:equivalentTo" . _:d1ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008435"; "MONDO:equivalentTo" . _:d1cdd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19299; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19299 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q55.8"; "Attributed"@en . _:d1ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q55.8"; "NTBT (narrower term maps to a broader term)"@en . _:d1cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q55.8"; "ORDO:2856/attributed", "ORDO:2856/ntbt", "Orphanet:2856" . _:d1d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:752.89"; "MONDO:relatedTo", "i2s" . _:d1d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536665"; "DOID:0050791", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2856/e", "Orphanet:2856" . _:d1d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536665"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d1d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120188"; "DOID:0050791", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:d1d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d1dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261550"; "DOID:0050791", "MONDO:equivalentTo", "ORDO:2856/e", "Orphanet:2856" . _:d1ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:702358005"; "DOID:0050791", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.02" . _:d1dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849930"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d1e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849930"; "DOID:0050791", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C120188", "OMIM:261550", "ORDO:2856/e", "Orphanet:2856" . _:d1e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMDS"; "MONDO:Lexical", "OMIM:261550", "Orphanet:2856" . _:d1e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent Muellerian duct syndrome"; "DOID:0050791" . _:d1ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent Mullerian derivatives"; "Orphanet:2856" . _:d1f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent Mullerian duct syndrome"; rdfs:comment "preferred label from MONDO" . _:d1f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent Müllerian derivatives"; "Orphanet:2856" . _:d1f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female genital ducts in otherwise Normal Male"; "OMIM:261550" . _:d1f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female genital ducts in otherwise normal male"; "GARD:0008435" . _:d1f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hernia uteri inguinale"; "OMIM:261550" . _:d1fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent MULLERIAN duct syndrome, types I and II"; "MONDO:Lexical", "OMIM:261550" . _:d1fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent MULLERIAN duct syndrome, types I and II; PMDS"; "OMIM:261550" . _:d1fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent Müllerian duct syndrome"; "Orphanet:2856" . _:d1fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent mullerian duct syndrome, types 1 and 2"; "GARD:0008435" . _:d1fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent oviduct syndrome"; "OMIM:261550" . _:d200d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohermaphroditism, Male internal"; "OMIM:261550" . _:d201d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0008435" . _:d202d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2856" . _:d205d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome"^^xsd:anyURI; "GARD:0008435" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017313", "UMLS:CN227114"; "disorder of folate metabolism and transport"; "Orphanet:285657"; ; rdfs:label "Disorder of folate metabolism and transport" . _:d208d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227114"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d209d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of folate metabolism and transport"; rdfs:comment "preferred label from MONDO" . _:d20bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:285657" . a owl:Class; rdfs:subClassOf , , ; "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS."; ; , , ; "Arterial-ecchymotic EDS"@en, "EDS IV"@en, "Ehlers-Danlos syndrome type 4"@en, "Sack-Barabas syndrome"@en, "vEDS"@en; "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS."@en; "orphanet"@en; "GARD:0002082", "ICD-10:Q79.6", "ICD10:Q79.6", "MONDO:0017314", "NCIT:C125699", "OMIM:130050", "SCTID:17025000", "UMLS:C0268338"; "EDS IV", "EDS type 4", "Ehlers-Danlos syndrome type 4", "Ehlers-Danlos syndrome type IV", "Ehlers-Danlos syndrome, type IV", "Ehlers-Danlos syndrome, vascular type", "Sack-Barabas syndrome", "sack-Barabas syndrome"; "EDS IV (formerly)", "EDS type 4 (formerly)", "EDS4 (formerly)", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers Danlos syndrome, sack-Barabas type", "Ehlers-Danlos syndrome type 4 (formerly)", "Ehlers-Danlos syndrome type IV (formerly)", "vEDS", "vascular EDS", "vascular Ehlers-Danlos syndrome"; "Orphanet:286"; , ; rdfs:label "Ehlers-Danlos syndrome, vascular type", "Vascular Ehlers-Danlos syndrome"@en; "ORPHA:286" . _:d20fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS."; "Orphanet:286" . _:d210d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002082"; "MONDO:equivalentTo", "Orphanet-shared" . _:d211d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19334; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19334 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.6"; "Attributed"@en . _:d213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.6"; "NTBT (narrower term maps to a broader term)"@en . _:d216d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q79.6"; "MONDO:subClassOf", "ORDO:286/attributed", "ORDO:286/ntbt", "Orphanet:286" . _:d218d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C125699"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.64" . _:d219d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:130050"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d21bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:17025000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.08" . _:d21cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268338"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d21dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDS IV"; "Orphanet:286" . _:d21ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDS type 4"; "Orphanet:286" . _:d21fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndrome type 4"; "Orphanet:286" . _:d221d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndrome type IV"; "Orphanet:286" . _:d222d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndrome, type IV"; "NCIT:C125699" . _:d223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndrome, vascular type"; rdfs:comment "preferred label from MONDO" . _:d224d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sack-Barabas syndrome"; "Orphanet:286" . _:d225d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDS IV (formerly)"; "GARD:0002082" . _:d226d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDS type 4 (formerly)"; "GARD:0002082" . _:d249d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDS4 (formerly)"; "GARD:0002082" . _:d24bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers Danlos syndrome, arterial type"; "GARD:0002082" . _:d24dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers Danlos syndrome, ecchymotic type"; "GARD:0002082" . _:d24ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers Danlos syndrome, sack-Barabas type"; "GARD:0002082" . _:d250d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndrome type 4 (formerly)"; "GARD:0002082" . _:d253d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndrome type IV (formerly)"; "GARD:0002082" . _:d255d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vEDS"; "GARD:0002082" . _:d256d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular EDS"; "GARD:0002082" . _:d257d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular Ehlers-Danlos syndrome"; "GARD:0002082" . _:d25bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:286" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies."; , , , , , ; , , , , , , , , ; "Hamartomatous intestinal polyposis"@en, "PJS"@en, "Polyps and spots syndrome"@en; "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies."@en; "orphanet", "orphanet"@en; "DOID:3852", "GARD:0007378", "ICD-10:Q85.8", "ICD10:Q85.8", "ICD9:759.6", "MESH:D010580", "MONDO:0008280", "MSH:D010580", "MeSH:D010580", "MedDRA:10034764", "NCIT:C3324", "OMIM:175200", "SCTID:54411001", "UMLS:C0031269", "UMLS:C1333088"; "Hamartomatous intestinal polyposis", "Jeghers-Peutz syndrome", "PJS", "Peutz Jeghers colon polyp", "Peutz Jeghers polyp", "Peutz's syndrome", "Peutz-Jeghers polyp of small intestine", "Peutz-Jeghers small bowel hamartoma", "Peutz-Jeghers syndrome", "Polyps and spots syndrome", "colonic hamartomatous polyp", "gastric Peutz-Jeghers polyp", "hamartomatous intestinal polyposis", "polyps and spots syndrome"; "Peutz Jeghers polyposis", "Peutz-Jeghers syndrome; PJS", "lentiginosis, perioral", "periorificial lentiginosis syndrome", "polyposis, hamartomatous intestinal", "polyps-and-Spots syndrome"; "Orphanet:2869"; , , ; rdfs:label "Peutz-Jeghers syndrome", "Peutz-Jeghers syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome"^^xsd:anyURI; "ORPHA:2869" . _:d26ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies."; "Orphanet:2869" . _:d26bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3852"; "MONDO:equivalentTo" . _:d26cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007378"; "MONDO:equivalentTo" . _:d26ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19364; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19364 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:d270d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.8"; "NTBT (narrower term maps to a broader term)"@en . _:d271d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.8"; "DOID:3852", "ORDO:2869/inclusion", "ORDO:2869/ntbt", "Orphanet:2869" . _:d273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.6"; "MONDO:relatedTo", "i2s" . _:d275d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010580"; "DOID:3852", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2869/e", "Orphanet:2869" . _:d276d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D010580"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d27bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034764"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d27cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034764"; "ORDO:2869/e", "Orphanet:2869" . _:d27dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3324"; "DOID:3852", "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.86/1.98" . _:d27ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:175200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d280d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:175200"; "DOID:3852", "MONDO:equivalentTo", "ORDO:2869/e", "Orphanet:2869" . _:d282d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:54411001"; "DOID:3852", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:d287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031269"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031269"; "DOID:3852", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3324", "OMIM:175200", "ORDO:2869/e", "Orphanet:2869" . _:d28bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1333088"; "DOID:3852", "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:d28dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jeghers-Peutz syndrome"; "NCIT:C3324" . _:d28ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PJS"; "MONDO:Lexical", "NCIT:C3324", "OMIM:175200", "Orphanet:2869" . _:d28fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz Jeghers colon polyp"; "DOID:3852" . _:d290d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz Jeghers polyp"; "DOID:3852" . _:d291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz's syndrome"; "NCIT:C3324" . _:d292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz-Jeghers polyp of small intestine"; "DOID:3852", "NCIT:C7755" . _:d294d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz-Jeghers small bowel hamartoma"; "DOID:3852" . _:d297d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz-Jeghers syndrome"; "MONDO:Lexical", "NCIT:C3324", "OMIM:175200" . _:d298d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz-Jeghers syndrome"; rdfs:comment "preferred label from MONDO" . _:d29ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colonic hamartomatous polyp"; "DOID:3852", "NCIT:C5519" . _:d29bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastric Peutz-Jeghers polyp"; "DOID:3852" . _:d29ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hamartomatous intestinal polyposis"; "Orphanet:2869" . _:d29fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyps and spots syndrome"; "Orphanet:2869" . _:d2a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz Jeghers polyposis"; "GARD:0007378" . _:d2a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peutz-Jeghers syndrome; PJS"; "OMIM:175200" . _:d2a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lentiginosis, perioral"; "GARD:0007378" . _:d2a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periorificial lentiginosis syndrome"; "GARD:0007378" . _:d2a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyposis, hamartomatous intestinal"; "OMIM:175200" . _:d2a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyps-and-Spots syndrome"; "OMIM:175200" . _:d2a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007378" . _:d2aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2869" . _:d2afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome"^^xsd:anyURI; "GARD:0007378" . a owl:Class; rdfs:subClassOf , , , ; "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects."; , , , , , , , , ; "Chondroectodermal dysplasia"@en, "Mesodermic dysplasia"@en; "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects."@en; "orphanet"@en; "DOID:12714", "GARD:0001301", "ICD-10:Q77.6", "ICD10:Q77.6", "ICD9:756.55", "MESH:D004613", "MONDO:0009162", "MSH:D004613", "MeSH:D004613", "MedDRA:10008724", "NCIT:C84684", "OMIM:225500", "OMIM:617088", "OMIM:618123", "SCTID:62501005", "UMLS:C0013903", "UMLS:CN239258"; "Chondroectodermal dysplasia", "Ellis-van Creveld syndrome", "Mesodermic dysplasia", "mesodermic dysplasia"; "EVC", "Ellis Van Creveld syndrome", "Ellis-VAN Creveld syndrome; EVC", "Mesoectodermal dysplasia"; "Orphanet:289"; , ; rdfs:label "Ellis Van Creveld syndrome", "Ellis Van Creveld syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome"^^xsd:anyURI; "ORPHA:289" . _:d2b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects."; "Orphanet:289" . _:d2b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12714"; "MONDO:equivalentTo" . _:d2bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001301"; "MONDO:equivalentTo" . _:d2bbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19405; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19405 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.6"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:d2bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.6"; "NTBT (narrower term maps to a broader term)"@en . _:d2bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q77.6"; "DOID:12714", "ORDO:289/inclusion", "ORDO:289/ntbt", "Orphanet:289" . _:d2c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.55"; "DOID:12714", "MONDO:equivalentTo", "i2s" . _:d2c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004613"; "DOID:12714", "MONDO:equivalentTo", "ORDO:289/e", "Orphanet:289" . _:d2c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D004613"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d2c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008724"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d2c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008724"; "ORDO:289/e", "Orphanet:289" . _:d2cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84684"; "DOID:12714", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:d2cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:225500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d2cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:225500"; "DOID:12714", "MONDO:equivalentTo", "ORDO:289/e", "Orphanet:289" . _:d2d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617088"; "BTNT (broader term maps to a narrower term)"@en . _:d2d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618123"; "BTNT (broader term maps to a narrower term)"@en . _:d2d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:62501005"; "DOID:12714", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:d2d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013903"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d2d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013903"; "DOID:12714", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84684", "OMIM:225500", "ORDO:289/e", "Orphanet:289" . _:d2dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239258"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d2dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chondroectodermal dysplasia"; "DOID:12714", "ICD9CM_2006:756.55", "OMIM:225500", "Orphanet:289" . _:d2e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ellis-van Creveld syndrome"; "DOID:12714", "MONDO:Lexical", "MTHICD9_2006:756.55", "OMIM:225500" . _:d2e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ellis-van Creveld syndrome"; rdfs:comment "preferred label from MONDO" . _:d2e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mesodermic dysplasia"; "Orphanet:289" . _:d2e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EVC"; "MONDO:Lexical", "OMIM:225500" . _:d2e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ellis Van Creveld syndrome"; "Orphanet:289" . _:d2e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ellis-VAN Creveld syndrome; EVC"; "OMIM:225500" . _:d2e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mesoectodermal dysplasia"; "OMIM:225500" . _:d2ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0001301" . _:d2ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:289" . _:d2eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome"^^xsd:anyURI; "GARD:0001301" . a owl:Class; rdfs:subClassOf , , , , ; , ; "MONDO:0017322", "UMLS:CN202954"; "disorders of vitamin D metabolism"; "Orphanet:289098"; ; rdfs:label "Disorders of vitamin D metabolism", "Disorders of vitamin D metabolism"@en; "ORPHA:289098" . _:d2efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202954"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d2f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders of vitamin D metabolism"; rdfs:comment "preferred label from MONDO" . _:d2f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:289098" . a owl:Class; rdfs:subClassOf , ; "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)."; , , , , ; "orphanet"; "MONDO:0017323", "NCIT:C131421", "SCTID:722947004", "UMLS:C4302195", "UMLS:C4329608"; "Calciopenic rickets", "calcium deficiency rickets", "hypocalcemic rickets"; "Orphanet:289103"; ; rdfs:label "Hypocalcemic rickets" . _:d2f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)."; "Orphanet:289103" . _:d2f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131421"; "MONDO:equivalentTo" . _:d2f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722947004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:d2f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4302195"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:d2f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4329608"; "MEDGEN:kboom-pr95-c98", "MONDO:equivalentTo" . _:d2f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Calciopenic rickets"; "NCIT:C131421" . _:d2f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "calcium deficiency rickets"; "NCIT:C131421" . _:d2fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalcemic rickets"; rdfs:comment "preferred label from MONDO" . _:d2fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:289103" . a owl:Class; rdfs:subClassOf , , ; "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia."; , , , ; "1-alpha-hydroxylase deficiency"@en, "PDDRI"@en, "Pseudovitamin D-deficient rickets"@en, "VDDI"@en, "VDDR-I"@en, "Vitamin D dependent rickets type I"@en, "Vitamin D-dependency type I"@en; "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia."@en; "orphanet", "orphanet"@en; "ICD-10:E55.0", "ICD10:E55.0", "MESH:C562688", "MONDO:0009924", "NCIT:C131073", "OMIM:264700", "OMIM:600081", "SCTID:67049004", "UMLS:C0268689"; "1 Alpha-hydroxylase deficiency", "1-alpha-hydroxylase deficiency", "PDDRI", "Pseudovitamin D-deficient rickets", "VDDI", "VDDR-I", "VDDR1", "Vitamin D 1 Alpha-Hydroxylase deficiency", "Vitamin D dependent rickets type I", "Vitamin D-dependency type I", "Vitamin D-dependent rickets type 1", "hypocalcemic vitamin D-dependent rickets", "pseudo Vitamin-D deficient rickets", "pseudovitamin D-deficient rickets", "selective 1-alpha, 25-hydroxyvitamin D3 deficiency", "vitamin D-dependent rickets, type 1"; "Vitamin D dependency, type 1"; "Orphanet:289157"; ; rdfs:label "Hypocalcemic vitamin D-dependent rickets", "Hypocalcemic vitamin D-dependent rickets"@en; "ORPHA:289157" . _:d302d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia."; "Orphanet:289157" . _:d303d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19447; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19447 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E55.0"; "Attributed"@en . _:d306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E55.0"; "NTBT (narrower term maps to a broader term)"@en . _:d308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E55.0"; "ORDO:289157/attributed", "ORDO:289157/ntbt", "Orphanet:289157" . _:d30ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562688"; "MONDO:equivalentTo", "MONDO:ontobio" . _:d30bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131073"; "MONDO:equivalentTo" . _:d30cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d30ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600081"; "BTNT (broader term maps to a narrower term)"@en . _:d310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:67049004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.64" . _:d313d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268689"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "1 Alpha-hydroxylase deficiency"; "NCIT:C131073" . _:d317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "1-alpha-hydroxylase deficiency"; "Orphanet:289157" . _:d318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PDDRI"; "Orphanet:289157" . _:d319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VDDI"; "Orphanet:289157" . _:d31ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VDDR-I"; "Orphanet:289157" . _:d31bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VDDR1"; "NCIT:C131073" . _:d31dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D 1 Alpha-Hydroxylase deficiency"; "NCIT:C131073" . _:d31ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D dependent rickets type I"; "Orphanet:289157" . _:d320d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D-dependency type I"; "Orphanet:289157" . _:d321d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D-dependent rickets type 1"; "NCIT:C131073" . _:d323d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalcemic vitamin D-dependent rickets"; "Orphanet:289157" . _:d324d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudo Vitamin-D deficient rickets"; "NCIT:C131073" . _:d325d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudovitamin D-deficient rickets"; "Orphanet:289157" . _:d327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective 1-alpha, 25-hydroxyvitamin D3 deficiency"; "NCIT:C131073" . _:d329d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin D-dependent rickets, type 1"; rdfs:comment "preferred label from MONDO" . _:d32cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D dependency, type 1"; "OMIM:264700" . _:d32dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:289157" . a owl:Class; rdfs:subClassOf , , , ; "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."; , , , ; "ARHR"@en; "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."@en; "orphanet", "orphanet"@en; "DOID:0050949", "ICD-10:E83.3", "ICD10:E83.3", "MONDO:0017324", "OMIM:241520", "OMIM:613312", "SCTID:90505000", "UMLS:CN202957"; "ARHR", "autosomal recessive hereditary hypophosphatemic rickets", "autosomal recessive hypophosphatemic rickets", "hereditary hypophosphatemic rickets, autosomal recessive", "hypophosphatemic rickets, autosomal recessive"; "Orphanet:289176"; ; rdfs:label "Autosomal recessive hypophosphatemic rickets", "Autosomal recessive hypophosphatemic rickets"@en; "ORPHA:289176" . _:d32fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."; "Orphanet:289176" . _:d330d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050949"; "MONDO:equivalentTo" . _:d332d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19476; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19476 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "Attributed"@en . _:d334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "NTBT (narrower term maps to a broader term)"@en . _:d336d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.3"; "MONDO:relatedTo", "ORDO:289176/attributed", "ORDO:289176/ntbt", "Orphanet:289176" . _:d338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:241520"; "BTNT (broader term maps to a narrower term)"@en . _:d33ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613312"; "BTNT (broader term maps to a narrower term)"@en . _:d33cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:90505000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.51" . _:d33ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202957"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d33fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARHR"; "Orphanet:289176" . _:d340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive hereditary hypophosphatemic rickets"; "MONDO:design_pattern" . _:d343d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive hypophosphatemic rickets"; rdfs:comment "preferred label from MONDO" . _:d351d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hypophosphatemic rickets, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:d352d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:d353d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:289176" . a owl:Class; rdfs:subClassOf , , , ; "Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement."; , , , , ; "ADK hypermethioninemia"@en, "Hypermethioninemia encephalopathy due to ADK deficiency"@en; "Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement."@en; "orphanet"@en; "DOID:0111038", "ICD-10:E72.1", "ICD10:E72.1", "MESH:C567015", "MONDO:0013676", "OMIM:614300", "UMLS:C3280381"; "ADK hypermethioninemia", "Hypermethioninemia encephalopathy due to ADK deficiency", "MRT8", "autosomal recessive mental retardation 8", "hypermethioninemia due to adenosine kinase deficiency", "hypermethioninemia encephalopathy due to ADK deficiency", "hypermethioninemia encephalopathy due to adenosine kinase deficiency"; "mental retardation, autosomal recessive 8, formerly"; "Orphanet:289290"; ; rdfs:label "Hypermethioninemia encephalopathy due to adenosine kinase deficiency", "Hypermethioninemia encephalopathy due to adenosine kinase deficiency"@en; "ORPHA:289290" . _:d357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement."; "Orphanet:289290" . _:d358d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0111038"; "MONDO:equivalentTo" . _:d359d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19492; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:d35ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:d360d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "DOID:0111038", "ORDO:289290/attributed", "ORDO:289290/ntbt", "Orphanet:289290" . _:d362d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567015"; "MONDO:equivalentTo", "MONDO:ontobio" . _:d365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d366d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614300"; "DOID:0111038", "MONDO:equivalentTo", "ORDO:289290/e", "Orphanet:289290" . _:d36dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3280381"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614300" . _:d36ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADK hypermethioninemia"; "DOID:0111038", "Orphanet:289290" . _:d36fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRT8"; "DOID:0111038" . _:d371d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive mental retardation 8"; "DOID:0111038" . _:d372d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia due to adenosine kinase deficiency"; "OMIM:614300" . _:d374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia due to adenosine kinase deficiency"; rdfs:comment "preferred label from MONDO" . _:d377d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia encephalopathy due to ADK deficiency"; "DOID:0111038", "Orphanet:289290" . _:d378d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia encephalopathy due to adenosine kinase deficiency"; "DOID:0111038" . _:d37bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental retardation, autosomal recessive 8, formerly"; "OMIM:614300" . _:d37cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:289290" . a owl:Class; rdfs:subClassOf , ; "Glycine N-methyltransferase deficiency"@en, "Hypermethioninemia due to GNMT deficiency"@en; "Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine."@en; "orphanet"@en; "ICD-10:E72.1", "ICD10:E72.1", "OMIM:606664", "UMLS:C1847720"; "Glycine N-methyltransferase deficiency", "Hypermethioninemia due to GNMT deficiency"; rdfs:label "Hypermethioninemia due to glycine N-methyltransferase deficiency", "Hypermethioninemia due to glycine N-methyltransferase deficiency"@en; "ORPHA:289891" . _:d380d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19509; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19509 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:d381d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:d382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606664"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1847720"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage."; ; , , , ; "disorder of organic acid metabolism", "organic acid metabolism disorder"; "DOID:0060159", "GARD:0009433", "ICD9:277.89", "MONDO:0000688", "NCIT:C101334", "UMLS:C1263739"; "inborn error of organic acid metabolic process", "inborn organic acid metabolic process disorder", "inherited organic acidemia", "rare inborn error of organic acid metabolic process"; "organic acidemia", "organic aciduria", "rare inborn error of organic acid metabolic process"; "Orphanet:289899"; , ; rdfs:label "Organic aciduria", "Organic aciduria"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia"^^xsd:anyURI; "ORPHA:289899" . _:d385d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage."; "NCIT:C101334" . _:d387d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of organic acid metabolism"; "NCIT:C101334" . _:d388d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "organic acid metabolism disorder"; "DOID:0060159" . _:d38bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060159"; "MONDO:equivalentTo" . _:d38dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009433"; "MONDO:equivalentTo" . _:d390d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.89"; "MONDO:relatedTo", "i2s" . _:d391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C101334"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.79" . _:d393d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1263739"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C101334" . _:d394d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of organic acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:d396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited organic acidemia"; rdfs:comment "preferred label from MONDO" . _:d397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of organic acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:d399d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "organic acidemia"; "DOID:0060159", "GARD:0009433" . _:d39ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "organic aciduria"; "DOID:0060159", "MONDO:0017358" . _:d39fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of organic acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:d3a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009433" . _:d3a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:289899" . _:d3a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia"^^xsd:anyURI; "GARD:0009433" . a owl:Class; rdfs:subClassOf ; "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine."; , , , , , ; "DOID:0060336", "ICD10:E71.1", "ICD10:E71.111", "MESH:C579867", "MONDO:0017359", "NCIT:C98678", "OMIM:616271", "OMIM:617248", "OMIM:617698", "OMIMPS:250950", "SCTID:237950009", "UMLS:C3696376"; "3-methylglutaconic aciduria"; "Orphanet:289902"; ; rdfs:label "3-methylglutaconic aciduria" . _:d3a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine."; "NCIT:C98678" . _:d3a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060336"; "MONDO:equivalentTo" . _:d3a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "DOID:0060336", "ORDO:289902/attributed", "ORDO:289902/ntbt", "Orphanet:289902" . _:d3abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.111"; "DOID:0060336", "MONDO:equivalentTo" . _:d3add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C579867"; "DOID:0060336", "MONDO:equivalentTo", "MONDO:ontobio" . _:d3aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98678"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:d3b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616271"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:d3b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617248"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:d3b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617698"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:d3b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:250950"; "MONDO:cjm", "MONDO:equivalentTo" . _:d3b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237950009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:d3b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3696376"; "MONDO:equivalentTo", "NCIT:C98678", "Orphanet:289902" . _:d3bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-methylglutaconic aciduria"; rdfs:comment "preferred label from MONDO" . _:d3bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:289902" . a owl:Class; rdfs:subClassOf , , , ; "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)."; , ; "Familial pheochromocytoma-paraganglioma"@en; "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)."@en; "orphanet", "orphanet"@en; "GARD:0011984", "ICD-10:C74.1", "ICD-10:C75.5", "ICD-10:D35.0", "ICD-10:D35.6", "ICD10:C74.1", "ICD10:C75.5", "ICD10:D35.0", "ICD10:D35.6", "MONDO:0017366", "OMIM:115310", "OMIM:168000", "OMIM:171300", "OMIM:601650", "OMIM:605373", "OMIM:614165", "UMLS:C1708353"; "Familial pheochromocytoma-paraganglioma", "SDHx-related paraganglioma-pheochromocytoma", "familial pheochromocytoma-paraganglioma", "hereditary pheochromocytoma-paraganglioma"; "SDHx-related paraganglioma-pheochromocytoma", "hereditary paraganglioma-pheochromocytoma"; "Orphanet:29072"; , , ; rdfs:label "Hereditary pheochromocytoma-paraganglioma", "Hereditary pheochromocytoma-paraganglioma"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma"^^xsd:anyURI; "ORPHA:29072" . _:d3bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)."; "Orphanet:29072" . _:d3c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011984"; "MONDO:equivalentTo" . _:d3c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C74.1"; "Attributed"@en . _:d3c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C74.1"; "NTBT (narrower term maps to a broader term)"@en . _:d3c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C75.5"; "Attributed"@en . _:d3c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C75.5"; "NTBT (narrower term maps to a broader term)"@en . _:d3cad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19551; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19551 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.0"; "Attributed"@en . _:d3d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.0"; "NTBT (narrower term maps to a broader term)"@en . _:d3d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.6"; "Attributed"@en . _:d3d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.6"; "NTBT (narrower term maps to a broader term)"@en . _:d3d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C74.1"; "ORDO:29072/attributed", "ORDO:29072/ntbt", "Orphanet:29072" . _:d3d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C75.5"; "ORDO:29072/attributed", "ORDO:29072/ntbt", "Orphanet:29072" . _:d3d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D35.0"; "ORDO:29072/attributed", "ORDO:29072/ntbt", "Orphanet:29072" . _:d3dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D35.6"; "ORDO:29072/attributed", "ORDO:29072/ntbt", "Orphanet:29072" . _:d3ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115310"; "BTNT (broader term maps to a narrower term)"@en . _:d3dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:168000"; "BTNT (broader term maps to a narrower term)"@en . _:d3e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:171300"; "BTNT (broader term maps to a narrower term)"@en . _:d3e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601650"; "BTNT (broader term maps to a narrower term)"@en . _:d3e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605373"; "BTNT (broader term maps to a narrower term)"@en . _:d3e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614165"; "BTNT (broader term maps to a narrower term)"@en . _:d3ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1708353"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d3ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial pheochromocytoma-paraganglioma"; "Orphanet:29072" . _:d3edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary pheochromocytoma-paraganglioma"; rdfs:comment "preferred label from MONDO" . _:d3eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDHx-related paraganglioma-pheochromocytoma"; "GARD:0011984" . _:d3efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary paraganglioma-pheochromocytoma"; "GARD:0011984" . _:d3f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0011984" . _:d3f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:29072" . _:d3f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma"^^xsd:anyURI; "GARD:0011984" . a owl:Class; rdfs:subClassOf ; "Kahler's disease"@en, "Medullary plasmacytoma"@en, "Myelomatosis"@en, "Plasma cell myeloma"@en; "Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig)."@en; "orphanet"@en; "ICD-10:C90.0", "MeSH:D009101", "MedDRA:10028228", "OMIM:254500", "UMLS:C0026764"; rdfs:label "Multiple myeloma"@en; "ORPHA:29073" . _:d3f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C90.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d3f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009101"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d3fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028228"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d3fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:254500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d3fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026764"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.", "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes."; , , , , , ; "Congenital bullous poikiloderma"@en, "Poikiloderma of Kindler"@en; "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes."@en; "orphanet", "orphanet"@en; "DOID:0060472", "GARD:0004391", "ICD-10:Q81.8", "ICD10:Q81.8", "MESH:C536321", "MONDO:0008260", "MSH:C536321", "MeSH:C536321", "OMIM:173650", "SCTID:238836000", "UMLS:C0406557"; "KS", "Kindler syndrome", "Poikiloderma of Kindler", "hereditary acrokeratotic poikiloderma of Kindler-Weary", "poikiloderma of Kindler"; "KINDLER syndrome; KNDLRS", "KNDLRS", "bullous acrokeratotic poikiloderma of Kindler and Weary", "congenital bullous poikiloderma", "poikiloderma, congenital, with bullae, Weary type", "poikiloderma, hereditary acrokeratotic"; "Orphanet:2908"; ; rdfs:label "Kindler syndrome", "Kindler syndrome"@en; "ORPHA:2908" . _:d408d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes."; "Orphanet:2908" . _:d409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060472"; "MONDO:equivalentTo" . _:d40ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004391"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:d40bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19582; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.8"; "Attributed"@en . _:d40cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.8"; "NTBT (narrower term maps to a broader term)"@en . _:d40ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.8"; "ORDO:2908/attributed", "ORDO:2908/ntbt", "Orphanet:2908" . _:d411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536321"; "DOID:0060472", "MONDO:equivalentTo", "ORDO:2908/e", "Orphanet:2908" . _:d412d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536321"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:173650"; "MONDO:equivalentTo" . _:d414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238836000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/6.26" . _:d416d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0406557"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KS"; "Orphanet:2908" . _:d418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kindler syndrome"; "OMIM:173650" . _:d419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kindler syndrome"; rdfs:comment "preferred label from MONDO" . _:d41bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary acrokeratotic poikiloderma of Kindler-Weary"; "DOID:0060472" . _:d41ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma of Kindler"; "DOID:0060472", "Orphanet:2908" . _:d420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KINDLER syndrome; KNDLRS"; "OMIM:173650" . _:d422d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KNDLRS"; "OMIM:173650" . _:d423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bullous acrokeratotic poikiloderma of Kindler and Weary"; "OMIM:173650" . _:d425d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital bullous poikiloderma"; "GARD:0004391" . _:d427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma, congenital, with bullae, Weary type"; "OMIM:173650" . _:d428d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma, hereditary acrokeratotic"; "OMIM:173650" . _:d42ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2908" . a owl:Class; rdfs:subClassOf ; rdfs:label "Systemic disease with skin involvement"@en; "ORPHA:290836" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0017369", "UMLS:CN203042"; "autoinflammatory syndrome with immune deficiency"; "Orphanet:290839"; ; rdfs:label "Autoinflammatory syndrome with immune deficiency" . _:d42bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203042"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d42cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoinflammatory syndrome with immune deficiency"; rdfs:comment "preferred label from MONDO" . _:d42ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:290839" . a owl:Class; rdfs:subClassOf ; "UMLS:C0018671"; rdfs:label "Rare head and neck tumor"@en; "ORPHA:290849" . _:d42fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018671"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers."; , ; , , , , , , ; "Poikiloderma of Rothmund-Thomson"@en, "RTS"@en; "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers."@en; "orphanet", "orphanet"@en; "DOID:2732", "GARD:0004392", "ICD-10:Q82.8", "ICD10:Q82.8", "ICD9:759.89", "MESH:D011038", "MONDO:0010002", "MSH:D011038", "MeSH:D011038", "NCIT:C3335", "OMIM:268400", "SCTID:69093006", "UMLS:C0032339"; "Poikiloderma of Rothmund-Thomson", "RTS", "Rothmund-Thomson syndrome", "congenital poikiloderma", "poikiloderma of Rothmund-Thomson"; "RTS", "Rothmund-Thomson syndrome; RTS", "poikiloderma Congenitale", "poikiloderma atrophicans and cataract"; "Orphanet:2909"; ; rdfs:label "Rothmund-Thomson syndrome", "Rothmund-Thomson syndrome"@en; "ORPHA:2909" . _:d439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers."; "Orphanet:2909" . _:d43ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2732"; "MONDO:equivalentTo" . _:d43bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004392"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:d43dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19610; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19610 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "Index term"@en . _:d43ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:d43fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "DOID:2732", "ORDO:2909/index", "ORDO:2909/ntbt", "Orphanet:2909" . _:d440d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:d441d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011038"; "DOID:2732", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2909/e", "Orphanet:2909" . _:d442d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011038"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d444d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3335"; "DOID:2732", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.86/0.32" . _:d446d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:268400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:268400"; "DOID:2732", "MONDO:equivalentTo", "ORDO:2909/e", "Orphanet:2909" . _:d469d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:69093006"; "DOID:2732", "MONDO:equivalentTo", "MONDO:kboom-pr-0.95/0.83/1.15" . _:d46bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032339"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d46cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032339"; "DOID:2732", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3335", "OMIM:268400", "ORDO:2909/e", "Orphanet:2909" . _:d46dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RTS"; "DOID:2732", "NCIT:C3335", "Orphanet:2909" . _:d46fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rothmund-Thomson syndrome"; "MONDO:Lexical", "OMIM:268400" . _:d471d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rothmund-Thomson syndrome"; rdfs:comment "preferred label from MONDO" . _:d473d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital poikiloderma"; "DOID:2732", "MTHICD9_2006:757.33" . _:d475d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma of Rothmund-Thomson"; "Orphanet:2909" . _:d477d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RTS"; "MONDO:Lexical", "OMIM:268400" . _:d479d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rothmund-Thomson syndrome; RTS"; "OMIM:268400" . _:d47ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma Congenitale"; "GARD:0004392" . _:d47bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "poikiloderma atrophicans and cataract"; "OMIM:268400" . _:d47cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2909" . a owl:Class; rdfs:subClassOf , , ; "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly."; , ; , , , , , , , ; "Poland anomaly"@en, "Poland sequence"@en; "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly."@en; "orphanet"@en; "DOID:12961", "GARD:0007412", "ICD-10:Q79.8", "ICD10:Q79.8", "ICD9:756.89", "MESH:D011045", "MONDO:0008262", "MSH:D011045", "MeSH:D011045", "MedDRA:10036007", "NCIT:C85017", "OMIM:173800", "SCTID:38371006", "UMLS:C0032357"; "Poland anomaly", "Poland sequence", "Poland syndrome", "Poland's syndactyly"; "Poland syndactyly", "Poland's syndrome", "pectoralis muscle, absence of", "unilateral defect of pectoralis muscle and syndactyly of the hand"; "Orphanet:2911"; , ; rdfs:label "Poland syndrome", "Poland syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome"^^xsd:anyURI; "ORPHA:2911" . _:d47fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly."; "Orphanet:2911" . _:d482d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12961"; "MONDO:equivalentTo" . _:d484d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007412"; "MONDO:equivalentTo" . _:d486d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19636; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19636 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:d489d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.8"; "NTBT (narrower term maps to a broader term)"@en . _:d48bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q79.8"; "DOID:12961", "ORDO:2911/inclusion", "ORDO:2911/ntbt", "Orphanet:2911" . _:d48dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.89"; "MONDO:relatedTo", "i2s" . _:d48fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011045"; "DOID:12961", "MONDO:equivalentTo", "ORDO:2911/e", "Orphanet:2911" . _:d491d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011045"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d493d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036007"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d494d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036007"; "ORDO:2911/e", "Orphanet:2911" . _:d499d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85017"; "DOID:12961", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:d49ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:173800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d49cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:173800"; "DOID:12961", "MONDO:equivalentTo", "ORDO:2911/e", "Orphanet:2911" . _:d4a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:38371006"; "DOID:12961", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:d4a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032357"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d4a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032357"; "DOID:12961", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85017", "OMIM:173800", "ORDO:2911/e", "Orphanet:2911" . _:d4a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Poland anomaly"; "Orphanet:2911" . _:d4a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Poland sequence"; "OMIM:173800", "Orphanet:2911" . _:d4aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Poland syndrome"; "OMIM:173800" . _:d4abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Poland syndrome"; rdfs:comment "preferred label from MONDO" . _:d4acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Poland's syndactyly"; "DOID:12961" . _:d4add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Poland syndactyly"; "OMIM:173800" . _:d4aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Poland's syndrome"; "GARD:0007412" . _:d4afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pectoralis muscle, absence of"; "OMIM:173800" . _:d4b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "unilateral defect of pectoralis muscle and syndactyly of the hand"; "GARD:0007412" . _:d4b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007412" . _:d4b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2911" . _:d4b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome"^^xsd:anyURI; "GARD:0007412" . a owl:Class; rdfs:subClassOf , ; "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits."; , , , ; "GARD:0004410", "ICD-10:Q69.0", "ICD-10:Q69.1", "ICD-10:Q69.2", "ICD-10:Q69.9", "ICD10:Q69", "ICD10:Q69.0", "ICD10:Q69.1", "ICD10:Q69.2", "ICD10:Q69.9", "MONDO:0011348", "MSH:D017689", "MeSH:D017689", "MedDRA:10036063", "OMIM:603596", "UMLS:C0152427"; "isolated polydactyly (disease)", "non-syndromic polydactyly", "nonsyndromic polydactyly", "nonsyndromic polydactyly (disease)"; "Extra digits", "isolated polydactyly", "polydactylia", "supernumerary digits"; "Orphanet:2913"; ; rdfs:comment "Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy"; rdfs:label "Non-syndromic polydactyly"@en, "Polydactyly"; "ORPHA:2913" . _:d4b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits."; "MESH:D017689" . _:d4bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004410"; "MONDO:equivalentTo", "Orphanet-shared" . _:d4bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q69.0"; "BTNT (broader term maps to a narrower term)"@en . _:d4bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q69.0"; "Specific code (The term has its own code in the ICD10)"@en . _:d4c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q69.1"; "BTNT (broader term maps to a narrower term)"@en . _:d4c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q69.1"; "Specific code (The term has its own code in the ICD10)"@en . _:d4c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q69.2"; "BTNT (broader term maps to a narrower term)"@en . _:d4c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q69.2"; "Specific code (The term has its own code in the ICD10)"@en . _:d4c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q69.9"; "BTNT (broader term maps to a narrower term)"@en . _:d4c9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19672; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q69.9"; "Specific code (The term has its own code in the ICD10)"@en . _:d4ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.0"; "ORDO:2913/btnt", "ORDO:2913/specific" . _:d4ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.1"; "ORDO:2913/btnt", "ORDO:2913/specific" . _:d4d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.2"; "ORDO:2913/btnt", "ORDO:2913/specific" . _:d4d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.9"; "ORDO:2913/btnt", "ORDO:2913/specific" . _:d4d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017689"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d4d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036063"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d4d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036063"; "ORDO:2913/e" . _:d4dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603596"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d4ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152427"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d4ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic polydactyly"; rdfs:comment "preferred label from MONDO" . _:d4dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic polydactyly"; "MONDO:DesignPattern" . _:d4e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic polydactyly (disease)"; "MONDO:patterns/isolated" . _:d4e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Extra digits"; "GARD:0004410" . _:d4e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated polydactyly"; "MONDO:DesignPattern" . _:d4e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polydactylia"; "GARD:0004410" . _:d4e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "supernumerary digits"; "GARD:0004410" . _:d4e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2913" . a owl:Class; rdfs:subClassOf ; "AGEP"@en, "Pustular drug eruption"@en, "Toxic pustuloderma"@en; "A rare toxic dermatosis disease characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an edematous and erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Acute onset of fever (>38°C), peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Histologically reveals characteristic spongiform, subcorneal and/or intraepidermal, pustules, as well as marked edema of the papillary dermis, a perivascularly accentuated, neutrophil-rich inflammatory infiltrate, and intrapustular or intradermal eosinophils."@en; "orphanet"@en; "MedDRA:10048799", "UMLS:C0853331", "UMLS:C0877055"; rdfs:label "Acute generalized exanthematous pustulosis"@en; "ORPHA:293173" . _:d4e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048799"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d4e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0853331"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d4ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0877055"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay."; , , , ; "MMPEI"@en, "MMPSI"@en, "MPEI"@en, "MPSI"@en, "Malignant migrating partial epilepsy of infancy"@en, "Migrating partial epilepsy of infancy"@en, "Migrating partial seizures of infancy"@en; "A rare, genetic, neonatal epilepsy syndrome disease characterized by onset in the first 6 months of life of almost continuous migrating polymorphous focal seizures with corresponding multifocal ictal electroencephalographic discharges, progressive deterioration of psychomotor development, and usually early mortality."@en; "orphanet"@en; "MPSI"; "GARD:0012919", "MONDO:0017385", "NCIT:C125387", "OMIM:613722", "OMIM:614959", "OMIM:615338", "OMIM:616645", "UMLS:CN203114", "UMLS:CN240507"; "MMPEI", "MMPSI", "MPEI", "MPSI", "Malignant migrating partial epilepsy of infancy", "Migrating partial epilepsy of infancy", "Migrating partial seizures of infancy", "malignant migrating Partial seizures in infancy", "malignant migrating partial epilepsy of infancy", "malignant migrating partial seizures of infancy", "migrating Partial seizures in infancy", "migrating partial epilepsy of infancy", "migrating partial seizures of infancy"; "Orphanet:293181"; ; rdfs:label "Malignant migrating partial seizures of infancy", "Malignant migrating partial seizures of infancy"@en; "ORPHA:293181" . _:d4f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay."; "NCIT:C125387" . _:d4f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPSI"; "Orphanet:293181" . _:d4fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012919"; "MONDO:equivalentTo" . _:d4fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C125387"; "MONDO:equivalentTo" . _:d4ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613722"; "BTNT (broader term maps to a narrower term)"@en . _:d500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614959"; "BTNT (broader term maps to a narrower term)"@en . _:d503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615338"; "BTNT (broader term maps to a narrower term)"@en . _:d504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616645"; "BTNT (broader term maps to a narrower term)"@en . _:d505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203114"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:d508d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN240507"; "MEDGEN:kboom-pr93-c94", "MONDO:equivalentTo" . _:d509d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MMPEI"; "Orphanet:293181" . _:d50ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MMPSI"; "Orphanet:293181" . _:d50bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPEI"; "Orphanet:293181" . _:d50cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant migrating Partial seizures in infancy"; "NCIT:C125387" . _:d50dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant migrating partial epilepsy of infancy"; "Orphanet:293181" . _:d50ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant migrating partial seizures of infancy"; rdfs:comment "preferred label from MONDO" . _:d50fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "migrating Partial seizures in infancy"; "NCIT:C125387" . _:d510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "migrating partial epilepsy of infancy"; "Orphanet:293181" . _:d511d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "migrating partial seizures of infancy"; "Orphanet:293181" . _:d512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:293181" . a owl:Class; rdfs:subClassOf ; "CIDP"@en, "Chronic inflammatory demyelinating polyradiculoneuropathy"@en; "Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins."@en; "orphanet"@en; "ICD-10:G61.8", "MedDRA:10057645", "UMLS:C0393819"; rdfs:label "Chronic inflammatory demyelinating polyneuropathy"@en; "ORPHA:2932" . _:d513d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G61.8"; "NTBT (narrower term maps to a broader term)"@en . _:d514d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10057645"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d515d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0393819"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase."; ; "orphanet"; "ICD10:E71.1", "MONDO:0017390"; "Methylmalonic aciduria without homocystinuria", "methylmalonic acidemia without homocystinuria", "methylmalonic aciduria without homocystinuria"; "Orphanet:293355"; ; rdfs:label "Methylmalonic acidemia without homocystinuria" . _:d516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase."; "Orphanet:293355" . _:d517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "ORDO:293355/attributed", "ORDO:293355/ntbt", "Orphanet:293355" . _:d518d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia without homocystinuria"; rdfs:comment "preferred label from MONDO" . _:d519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria without homocystinuria"; "Orphanet:293355" . _:d51ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:293355" . a owl:Class; rdfs:subClassOf , ; "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994."; , , , ; "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994."@en; "orphanet"@en; "GARD:0001617", "ICD-10:Q70.4", "ICD10:Q70.4", "MESH:C566773", "MONDO:0008286", "OMIM:175690", "UMLS:C1867999"; "Crossed polydactyly", "crossed polydactyly", "crossed polysyndactyly"; "polysyndactyly, crossed"; "Orphanet:2935"; , ; rdfs:label "Crossed polysyndactyly", "Crossed polysyndactyly"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly"^^xsd:anyURI; "ORPHA:2935" . _:d522d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994."; "Orphanet:2935" . _:d523d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001617"; "MONDO:equivalentTo" . _:d525d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19724; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19724 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q70.4"; "Attributed"@en . _:d529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q70.4"; "NTBT (narrower term maps to a broader term)"@en . _:d52ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q70.4"; "ORDO:2935/attributed", "ORDO:2935/ntbt", "Orphanet:2935" . _:d52ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566773"; "MONDO:equivalentTo", "MONDO:ontobio" . _:d531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:175690"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:175690"; "MONDO:equivalentTo", "ORDO:2935/e", "Orphanet:2935" . _:d539d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1867999"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d53bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1867999"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:175690", "Orphanet:2935" . _:d53dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "crossed polydactyly"; "Orphanet:2935" . _:d53fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "crossed polysyndactyly"; rdfs:comment "preferred label from MONDO" . _:d542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polysyndactyly, crossed"; "OMIM:175690" . _:d544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0001617" . _:d545d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2935" . _:d54fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly"^^xsd:anyURI; "GARD:0001617" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:D64.4", "MONDO:0017397"; "constitutional dyserythropoietic anemia"; "Orphanet:293830"; ; rdfs:label "Constitutional dyserythropoietic anemia" . _:d550d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.4"; "MONDO:superClassOf", "ORDO:293830/attributed", "ORDO:293830/ntbt", "Orphanet:293830" . _:d552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional dyserythropoietic anemia"; rdfs:comment "preferred label from MONDO" . _:d554d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:293830" . a owl:Class; rdfs:subClassOf , ; "Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant."; , , , ; "Carnevale-Hernández-del Castillo syndrome"@en; "Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant."@en; "orphanet"@en; "GARD:0005290", "ICD-10:Q74.8", "ICD10:Q74.8", "MESH:C536564", "MONDO:0008607", "MSH:C536564", "MeSH:C536564", "OMIM:190680", "UMLS:C1860804"; "Carnevale-Hernández-del Castillo syndrome", "triphalangeal thumbs-brachyectrodactyly syndrome"; "triphalangeal thumb and brachy-ectrodactyly syndrome", "triphalangeal thumb and brachyectrodactyly syndrome", "triphalangeal thumbs brachyectrodactyly", "triphalangeal thumbs with brachyectrodactyly"; "Orphanet:2947"; ; rdfs:label "Triphalangeal thumbs - brachyectrodactyly", "Triphalangeal thumbs-brachyectrodactyly syndrome"@en; "ORPHA:2947" . _:d557d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant."; "Orphanet:2947" . _:d558d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005290"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:d55ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19744; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19744 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q74.8"; "Attributed"@en . _:d55bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q74.8"; "NTBT (narrower term maps to a broader term)"@en . _:d55cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q74.8"; "ORDO:2947/attributed", "ORDO:2947/ntbt", "Orphanet:2947" . _:d55ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536564"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2947/e", "Orphanet:2947" . _:d560d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536564"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:190680"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d563d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:190680"; "MONDO:equivalentTo", "ORDO:2947/e", "Orphanet:2947" . _:d564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1860804"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d565d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1860804"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:190680", "ORDO:2947/e", "Orphanet:2947" . _:d566d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carnevale-Hernández-del Castillo syndrome"; "Orphanet:2947" . _:d567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triphalangeal thumbs-brachyectrodactyly syndrome"; rdfs:comment "preferred label from MONDO" . _:d569d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triphalangeal thumb and brachy-ectrodactyly syndrome"; "GARD:0005290" . _:d580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triphalangeal thumb and brachyectrodactyly syndrome"; "GARD:0005290" . _:d582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triphalangeal thumbs brachyectrodactyly"; "GARD:0005290" . _:d583d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triphalangeal thumbs with brachyectrodactyly"; "OMIM:190680" . _:d584d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2947" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0017421"; "Terminal meromelia", "non-syndromic terminal limb defects", "nonsyndromic terminal limb defects", "terminal limb defects", "terminal meromelia"; "isolated terminal limb defects"; "Orphanet:294929"; ; rdfs:label "Terminal limb defects" . _:d588d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic terminal limb defects"; rdfs:comment "preferred label from MONDO" . _:d58ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic terminal limb defects"; "MONDO:DesignPattern" . _:d58bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "terminal limb defects"; "Orphanet:294929" . _:d58dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "terminal meromelia"; "Orphanet:294929" . _:d58fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated terminal limb defects"; "MONDO:DesignPattern" . _:d590d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294929" . a owl:Class; rdfs:subClassOf ; ; ; "ICD10:Q71.3", "MONDO:0017422"; "Fingers absent", "adactyly of hand", "fingers absent"; "Orphanet:294931"; ; rdfs:label "Adactyly of hand" . _:d592d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.3"; "ORDO:294931/attributed", "ORDO:294931/ntbt", "Orphanet:294931" . _:d598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adactyly of hand"; rdfs:comment "preferred label from MONDO" . _:d59ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fingers absent"; "Orphanet:294931" . _:d59cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294931" . a owl:Class; rdfs:subClassOf ; ; ; "ICD10:Q71.6", "ICD10:Q72.7", "MONDO:0017423"; "split hand or/and split foot malformation"; "Orphanet:294935"; ; rdfs:comment "Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss)"; rdfs:label "Split hand or/and split foot malformation" . _:d59fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294935" . _:d5a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.6"; "ORDO:294935/attributed", "ORDO:294935/btnt", "Orphanet:294935" . _:d5a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.7"; "ORDO:294935/attributed", "ORDO:294935/btnt", "Orphanet:294935" . _:d5aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split hand or/and split foot malformation"; rdfs:comment "preferred label from MONDO" . _:d5abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294935" . a owl:Class; rdfs:subClassOf , ; "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity."; ; ; "orphanet"; "use http://www.orpha.net/ORDO/Orphanet_498464 with label: Non-syndromic preaxial polydactyly"@en; "DC:0000362", "GARD:0012767", "ICD10:Q69.1", "MONDO:0017425"; "Preaxial polydactyly of fingers", "Preaxial polydactyly of hand", "preaxial polydactyly of hand"; "Orphanet:294939"; , ; rdfs:label "OBSOLETE: Preaxial polydactyly of fingers"@en, "Preaxial polydactyly of fingers"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers"^^xsd:anyURI . _:d5add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity."; "Orphanet:294939" . _:d5afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000362"; "MONDO:equivalentTo" . _:d5b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012767"; "MONDO:equivalentTo" . _:d5b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.1"; "ORDO:294939/attributed", "ORDO:294939/ntbt", "Orphanet:294939" . _:d5b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Preaxial polydactyly of fingers"; rdfs:comment "preferred label from MONDO" . _:d5b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "preaxial polydactyly of hand"; "Orphanet:294939" . _:d5b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012767" . _:d5b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294939" . _:d5b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers"^^xsd:anyURI; "GARD:0012767" . a owl:Class; rdfs:subClassOf , ; , ; "use http://www.orpha.net/ORDO/Orphanet_498467 with label: Non-syndromic postaxial polydactyly"@en; "GARD:0012460", "ICD10:Q69.0", "MONDO:0017426", "SCTID:205131007"; "Postaxial polydactyly of hand", "postaxial polydactyly of fingers", "postaxial polydactyly of hand"; "Orphanet:294942"; ; rdfs:label "OBSOLETE: Postaxial polydactyly of fingers"@en, "Postaxial polydactyly of fingers" . _:d5bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012460"; "MONDO:equivalentTo" . _:d5c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q69.0"; "ORDO:294942/attributed", "ORDO:294942/ntbt", "Orphanet:294942" . _:d5c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:205131007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.58" . _:d5c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "postaxial polydactyly of fingers"; rdfs:comment "preferred label from MONDO" . _:d5c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "postaxial polydactyly of hand"; "Orphanet:294942" . _:d5c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294942" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0017431"; "non-syndromic limb overgrowth"; "limb overgrowth"; "Orphanet:294953"; ; rdfs:label "Limb overgrowth", "Non syndromic limb overgrowth"@en; "ORPHA:294953" . _:d5cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic limb overgrowth"; rdfs:comment "preferred label from MONDO" . _:d5ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb overgrowth"; "Orphanet:294953" . _:d5ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294953" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0017433"; "dysostosis with combined reduction defects of upper and lower limbs"; "Orphanet:294957"; ; rdfs:label "Dysostosis with combined reduction defects of upper and lower limbs" . _:d5d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysostosis with combined reduction defects of upper and lower limbs"; rdfs:comment "preferred label from MONDO" . _:d5d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294957" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017434", "UMLS:CN203181"; "syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy"; "Orphanet:294959"; ; rdfs:label "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" . _:d5d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203181"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d5d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy"; rdfs:comment "preferred label from MONDO" . _:d5d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294959" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q71.3", "MONDO:0017448", "OMIM:102650"; "Digits 2-5 hypodactyly", "Digits 2-5 oligodactyly", "congenital absence/hypoplasia of fingers excluding thumb", "digits 2-5 hypodactyly", "digits 2-5 oligodactyly"; "Orphanet:294990"; ; rdfs:label "Congenital absence/hypoplasia of fingers excluding thumb" . _:d5dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.3"; "ORDO:294990/attributed", "ORDO:294990/ntbt", "Orphanet:294990" . _:d5dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital absence/hypoplasia of fingers excluding thumb"; rdfs:comment "preferred label from MONDO" . _:d5ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digits 2-5 hypodactyly"; "Orphanet:294990" . _:d5dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digits 2-5 oligodactyly"; "Orphanet:294990" . _:d5e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294990" . a owl:Class; rdfs:subClassOf ; "Lactotroph adenoma"@en, "PRL-secreting pituitary adenoma"@en, "PRLoma"@en, "Pituitary lactotrophic adenoma"@en, "Prolactin-secreting pituitary adenoma"@en; "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men."@en; "orphanet"@en; "ICD-10:D35.2", "ICD-10:E22.1", "MeSH:D015175", "MedDRA:10036832", "UMLS:C0033375"; rdfs:label "Prolactinoma"@en; "ORPHA:2965" . _:d5e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "ND (not yet decided/unable to decide)"@en . _:d5e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E22.1"; "ND (not yet decided/unable to decide)"@en . _:d5e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015175"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d5e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036832"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d5e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033375"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease."; , , ; , , , , ; "Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease."@en; "orphanet"@en; "GARD:0004513", "GARD:0009913", "ICD-10:D84.1", "ICD10:D84.1", "ICD9:279.8", "MESH:C537241", "MONDO:0010713", "MSH:C537241", "MeSH:C537241", "OMIM:312060", "SCTID:81166004", "UMLS:C0398762", "UMLS:C1839454"; "properdin deficiency"; "CFPD", "PFD", "complement Factor properdin deficiency", "properdin P Factor deficiency", "properdin deficiency, X-linked", "properdin deficiency, X-linked; CFPD", "properdin deficiency, type 1", "properdin deficiency, type 2", "properdin deficiency, type 3"; "Orphanet:2966"; ; rdfs:label "Properdin deficiency", "Properdin deficiency"@en; "ORPHA:2966" . _:d5efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease."; "Orphanet:2966" . _:d5f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004513"; "MONDO:equivalentTo", "shared-umls-xref" . _:d5f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009913"; "MONDO:equivalentTo", "OMIM-shared" . _:d5f4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19812; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:d5f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:d5f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:2966/attributed", "ORDO:2966/ntbt", "Orphanet:2966" . _:d5f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.8"; "MONDO:relatedTo", "i2s" . _:d5f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537241"; "MONDO:equivalentTo", "ORDO:2966/e", "Orphanet:2966" . _:d5fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537241"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d5fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312060"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d600d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312060"; "MONDO:equivalentTo", "ORDO:2966/e", "Orphanet:2966" . _:d601d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:81166004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.95" . _:d602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398762"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d603d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1839454"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "properdin deficiency"; rdfs:comment "preferred label from MONDO" . _:d605d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFPD"; "MONDO:Lexical", "OMIM:312060" . _:d606d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PFD"; "GARD:0009913" . _:d607d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement Factor properdin deficiency"; "OMIM:312060" . _:d608d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "properdin P Factor deficiency"; "OMIM:312060" . _:d609d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "properdin deficiency, X-linked"; "MONDO:Lexical", "OMIM:312060" . _:d60ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "properdin deficiency, X-linked; CFPD"; "OMIM:312060" . _:d60bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "properdin deficiency, type 1"; "OMIM:312060" . _:d60cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "properdin deficiency, type 2"; "OMIM:312060" . _:d60dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "properdin deficiency, type 3"; "OMIM:312060" . _:d60ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2966" . a owl:Class; rdfs:subClassOf , , , , , ; "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes."; , , , , , , , , , ; "Abdominal muscle deficiency syndrome"@en, "Eagle-Barret syndrome"@en, "Obrinsky syndrome"@en, "Triad syndrome"@en; "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes."@en; "orphanet"@en; "DOID:0060889", "GARD:0007479", "ICD-10:Q79.4", "ICD10:Q79.4", "ICD9:756.71", "MESH:D011535", "MONDO:0007032", "MSH:C536477", "MSH:D011535", "MeSH:C536477", "MeSH:D011535", "MedDRA:10051025", "NCIT:C85033", "OMIM:100100", "SCTID:5187006", "UMLS:C0033770", "UMLS:C0265363"; "Abdominal muscle deficiency syndrome", "Congenital absence of abdominal muscles", "Eagle-Barret syndrome", "Fröhlich syndrome", "Obrinsky syndrome", "Obrisnksy syndrome", "Urethral obstruction sequence", "abdominal muscle deficiency syndrome", "eagle-Barret syndrome", "prune belly syndrome", "syndrome of agenesis of abdominal muscles", "triad syndrome"; "PBS", "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism", "eagle-Barrett syndrome", "prune belly syndrome; PBS"; "Orphanet:2970"; ; rdfs:label "Prune belly syndrome", "Prune belly syndrome"@en; "ORPHA:2970" . _:d61bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes."; "Orphanet:2970" . _:d61ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060889"; "MONDO:equivalentTo" . _:d620d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007479"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:d622d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19838; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19838 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.4"; "Attributed"@en . _:d623d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.4"; "NTBT (narrower term maps to a broader term)"@en . _:d624d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q79.4"; "DOID:0060889", "ORDO:2970/attributed", "ORDO:2970/ntbt", "Orphanet:2970" . _:d625d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.71"; "MONDO:equivalentTo", "i2s" . _:d626d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011535"; "DOID:0060889", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2970/e", "Orphanet:2970" . _:d627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536477"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011535"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051025"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d62ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051025"; "ORDO:2970/e", "Orphanet:2970" . _:d62bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85033"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:d62cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:100100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d62dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:100100"; "DOID:0060889", "MONDO:equivalentTo", "ORDO:2970/e", "Orphanet:2970" . _:d62ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:5187006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.13" . _:d62fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033770"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033770"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85033", "OMIM:100100", "ORDO:2970/e", "Orphanet:2970" . _:d633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265363"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Obrinsky syndrome"; "Orphanet:2970" . _:d636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Obrisnksy syndrome"; "DOID:0060889" . _:d638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "abdominal muscle deficiency syndrome"; "DOID:0060889", "Orphanet:2970" . _:d640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eagle-Barret syndrome"; "DOID:0060889", "Orphanet:2970" . _:d642d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prune belly syndrome"; "MONDO:Lexical", "OMIM:100100" . _:d644d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prune belly syndrome"; rdfs:comment "preferred label from MONDO" . _:d645d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome of agenesis of abdominal muscles"; "NCIT:C85033" . _:d646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triad syndrome"; "Orphanet:2970" . _:d647d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PBS"; "MONDO:Lexical", "OMIM:100100" . _:d649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism"; "OMIM:100100" . _:d64bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eagle-Barrett syndrome"; "OMIM:100100" . _:d64dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prune belly syndrome; PBS"; "OMIM:100100" . _:d64ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2970" . a owl:Class; rdfs:subClassOf ; "46,XX DSD"@en; "ICD-10:Q56.2", "MeSH:D058489", "UMLS:C0238394", "UMLS:C2936403"; rdfs:label "46,XX disorder of sex development"@en; "ORPHA:2982" . _:d652d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.2"; "NTBT (narrower term maps to a broader term)"@en . _:d653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058489"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d654d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238394"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d656d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936403"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017578", "UMLS:CN227150"; "disorder of thiamine metabolism and transport"; "Orphanet:298644"; ; rdfs:label "Disorder of thiamine metabolism and transport" . _:d660d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227150"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d662d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of thiamine metabolism and transport"; rdfs:comment "preferred label from MONDO" . _:d665d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:298644" . a owl:Class; rdfs:subClassOf ; "ITP"@en, "Immune thrombocytopenia"@en, "Thrombocytopenic purpura, autoimmune"@en; "Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia."@en; "orphanet"@en; "ICD-10:D69.3", "MeSH:D016553", "MedDRA:10021245", "OMIM:188030", "UMLS:C0398650"; rdfs:label "Immune thrombocytopenic purpura"@en; "ORPHA:3002" . _:d669d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.3"; "NTBT (narrower term maps to a broader term)"@en . _:d66bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016553"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d66cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021245"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d66ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188030"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d670d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis."; , , , , ; "Familial infantile hypercalcemia with suppressed intact parathyroid hormone"@en; "Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria."@en; "orphanet"@en; "ICD-10:E83.5", "ICD10:E83.5", "MONDO:0007749", "NCIT:C129734", "OMIM:143880", "OMIM:616963", "SCTID:34225008", "UMLS:C4329374", "UMLS:CN203398"; "Familial infantile hypercalcemia with suppressed intact parathyroid hormone", "autosomal recessive hypercalcemia, infantile", "autosomal recessive infantile hypercalcemia", "familial infantile hypercalcemia with suppressed intact parathyroid hormone", "hypercalcemia, infantile, autosomal recessive", "idiopathic infantile hypercalcemia"; "hypercalcemia, idiopathic, of infancy", "hypercalcemia, infantile"; "Orphanet:300547"; , ; rdfs:label "Autosomal recessive infantile hypercalcemia", "Autosomal recessive infantile hypercalcemia"@en; "ORPHA:300547" . _:d674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis."; "NCIT:C129734" . _:d675d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19881; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19881 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "Attributed"@en . _:d676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "NTBT (narrower term maps to a broader term)"@en . _:d694d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.5"; "ORDO:300547/attributed", "ORDO:300547/ntbt", "Orphanet:300547" . _:d695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129734"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:d696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:143880"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616963"; "BTNT (broader term maps to a narrower term)"@en . _:d699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616963"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:d69dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:34225008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.37/0.46" . _:d69fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4329374"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:d6a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203398"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:d6a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive hypercalcemia, infantile"; "MONDO:design_pattern" . _:d6a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive infantile hypercalcemia"; rdfs:comment "preferred label from MONDO" . _:d6a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial infantile hypercalcemia with suppressed intact parathyroid hormone"; "Orphanet:300547" . _:d6abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, infantile, autosomal recessive"; "MONDO:design_pattern", "MONDO:patterns/autosomal_recessive" . _:d6add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic infantile hypercalcemia"; "NCIT:C129734" . _:d6afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, idiopathic, of infancy"; "OMIM:143880" . _:d6b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, infantile"; "OMIM:143880" . _:d6b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:300547" . a owl:Class; rdfs:subClassOf ; "Indolent B-cell NHL"@en; rdfs:label "Indolent B-cell non-Hodgkin lymphoma"@en; "ORPHA:300842" . a owl:Class; rdfs:subClassOf ; "Aggressive B-cell NHL"@en; rdfs:label "Aggressive B-cell non-Hodgkin lymphoma"@en; "ORPHA:300846" . a owl:Class; rdfs:subClassOf ; "UMLS:C0242647"; rdfs:label "Marginal zone lymphoma"@en; "ORPHA:300912" . _:d6bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242647"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Ependymal tumor is a tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (benign or low grade tumors) or anaplastic ependymoma (malignant or grade III tumors)."@en; "orphanet"@en; "ICD-10:C71.7", "OMIM:137800", "UMLS:C0014474"; rdfs:label "Ependymal tumor"@en; "ORPHA:301" . _:d6bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C71.7"; "NTBT (narrower term maps to a broader term)"@en . _:d6bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137800"; "NTBT (narrower term maps to a broader term)"@en . _:d6bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014474"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer."; , , , , , , , ; ; "Lewandowsky-Lutz syndrome"@en, "Lutz-Lewandowsky epidermodysplasia verruciformis"@en; "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer."@en; "orphanet", "orphanet"@en; "DOID:13777", "GARD:0006357", "ICD-10:B07", "ICD10:B07", "ICD9:078.19", "ICD9:757.8", "MESH:D004819", "MONDO:0009176", "MSH:D004819", "MeSH:D004819", "MedDRA:10052339", "NCIT:C126877", "OMIM:226400", "OMIM:305350", "OMIM:618231", "OMIM:618267", "OMIM:618309", "SCTID:19138001", "UMLS:C0014522"; "Lewandowsky-Lutz dysplasia", "Lewandowsky-Lutz syndrome", "Lutz-Lewandowsky epidermodysplasia verruciformis", "epidermodysplasia verruciformis"; "EV", "epidermodysplasia verruciformis; EV", "ever"; "Orphanet:302"; , ; rdfs:label "Epidermodysplasia verruciformis", "Epidermodysplasia verruciformis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis"^^xsd:anyURI; "ORPHA:302" . _:d6c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer."; "Orphanet:302" . _:d6c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:13777", "linkedlifedata" . _:d6c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13777"; "MONDO:equivalentTo" . _:d6c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006357"; "MONDO:equivalentTo" . _:d6c9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19908; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19908 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B07"; "Index term"@en . _:d6cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B07"; "NTBT (narrower term maps to a broader term)"@en . _:d6ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:B07"; "ORDO:302/index", "ORDO:302/ntbt", "Orphanet:302" . _:d6cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:078.19"; "MONDO:relatedTo", "i2s" . _:d6ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.8"; "MONDO:relatedTo", "i2s" . _:d6d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004819"; "DOID:13777", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:302/e", "Orphanet:302" . _:d6d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D004819"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d6d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10052339"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d6d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10052339"; "ORDO:302/e", "Orphanet:302" . _:d6d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126877"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:d6d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:226400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d6dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:226400"; "DOID:13777", "MONDO:equivalentTo", "ORDO:302/e", "Orphanet:302" . _:d6dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:305350"; "BTNT (broader term maps to a narrower term)"@en . _:d6e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618231"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d6e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618267"; "BTNT (broader term maps to a narrower term)"@en . _:d6e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618309"; "BTNT (broader term maps to a narrower term)"@en . _:d6e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:19138001"; "DOID:13777", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:d6e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014522"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d6ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014522"; "DOID:13777", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C126877", "OMIM:226400", "ORDO:302/e", "Orphanet:302" . _:d6edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lewandowsky-Lutz dysplasia"; "NCIT:C126877" . _:d6efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lewandowsky-Lutz syndrome"; "Orphanet:302" . _:d6f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lutz-Lewandowsky epidermodysplasia verruciformis"; "Orphanet:302" . _:d6f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermodysplasia verruciformis"; "MONDO:Lexical", "OMIM:226400" . _:d6f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermodysplasia verruciformis"; rdfs:comment "preferred label from MONDO" . _:d6f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EV"; "MONDO:Lexical", "OMIM:226400" . _:d6f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermodysplasia verruciformis; EV"; "OMIM:226400" . _:d6fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ever"; "OMIM:226400" . _:d6fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006357" . _:d6fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:302" . _:d6fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis"^^xsd:anyURI; "GARD:0006357" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine."; ; , , , , , , , , ; "Caudal dysplasia"@en, "Sacral agenesis syndrome"@en, "Sacral regression syndrome"@en; "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine."@en; "orphanet", "orphanet"@en; "GARD:0006007", "ICD-10:Q76.0", "ICD10:Q76.0", "MONDO:0017607", "MedDRA:10054842", "MedDRA:10059387", "MedDRA:10068896", "NCIT:C124505", "OMIM:600145", "UMLS:C0300948", "UMLS:C0344490", "UMLS:C1838568", "UMLS:C1867774", "UMLS:C2609260"; "Caudal dysplasia", "Sacral agenesis syndrome", "Sacral regression syndrome", "caudal dysplasia", "caudal regression sequence", "sacral agenesis syndrome", "sacral regression syndrome"; "Orphanet:3027"; ; rdfs:label "Caudal regression sequence", "Caudal regression sequence"@en; "ORPHA:3027" . _:d707d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine."; "Orphanet:3027" . _:d709d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006007"; "MONDO:equivalentTo", "Orphanet-shared" . _:d70bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19941; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19941 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q76.0"; "Attributed"@en . _:d70ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q76.0"; "NTBT (narrower term maps to a broader term)"@en . _:d710d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q76.0"; "ORDO:3027/attributed", "ORDO:3027/ntbt", "Orphanet:3027" . _:d712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10054842"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10054842"; "ORDO:3027/e", "Orphanet:3027" . _:d717d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059387"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d718d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059387"; "ORDO:3027/e", "Orphanet:3027" . _:d719d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068896"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d71ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068896"; "ORDO:3027/e", "Orphanet:3027" . _:d71bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C124505"; "MONDO:equivalentTo" . _:d71cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600145"; "NTBT (narrower term maps to a broader term)"@en . _:d71dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0300948"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d71ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0344490"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d71fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1838568"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:d720d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1867774"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1867774"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "Orphanet:3027" . _:d724d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2609260"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "caudal dysplasia"; "Orphanet:3027" . _:d72ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "caudal regression sequence"; rdfs:comment "preferred label from MONDO" . _:d72cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sacral agenesis syndrome"; "Orphanet:3027" . _:d72ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sacral regression syndrome"; "Orphanet:3027" . _:d731d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3027" . a owl:Class; rdfs:subClassOf , ; "Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)."; ; ; "DEB"@en, "Dermolytic epidermolysis bullosa"@en, "Epidermolysis bullosa dystrophica"@en; "Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)."@en; "orphanet", "orphanet"@en; "GARD:0002150", "ICD-10:Q81.2", "ICD10:Q81.2", "MONDO:0017608", "OMIM:132000", "UMLS:C0079294"; "DEB", "Dermolytic epidermolysis bullosa", "Epidermolysis bullosa dystrophica", "dystrophic epidermolysis bullosa", "epidermolysis bullosa dystrophica"; "epidermolysis bullosa, dermolytic"; "Orphanet:303"; ; rdfs:label "Dystrophic epidermolysis bullosa", "Dystrophic epidermolysis bullosa"@en; "ORPHA:303" . _:d738d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)."; "Orphanet:303" . _:d73ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002150"; "MONDO:equivalentTo", "Orphanet-shared" . _:d73cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d73ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19967; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19967 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.2"; "Specific code (The term has its own code in the ICD10)"@en . _:d741d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.2"; "ORDO:303/e", "ORDO:303/specific", "Orphanet:303" . _:d742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079294"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d743d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEB"; "Orphanet:303" . _:d744d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dermolytic epidermolysis bullosa"; "Orphanet:303" . _:d745d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophic epidermolysis bullosa"; rdfs:comment "preferred label from MONDO" . _:d746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa dystrophica"; "Orphanet:303" . _:d749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa, dermolytic"; "GARD:0002150" . _:d74bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:303" . a owl:Class; rdfs:subClassOf , ; , , , , ; "Goldston syndrome"@en, "Meckel syndrome type 7"@en, "Meckel-like syndrome type 1"@en, "Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome"@en; "NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly."@en; "orphanet"@en; "DOID:0070121", "GARD:0004665", "ICD-10:Q61.9", "ICD10:Q61.9", "MESH:C537756", "MONDO:0009966", "OMIM:267010", "UMLS:C2673885", "url:https://www.ncbi.nlm.nih.gov/pubmed/18371931"; "Goldston syndrome", "MKS7", "Meckel syndrome type 7", "Meckel-Gruber syndrome, type 7", "Meckel-like syndrome type 1", "NPHP3-related Meckel-like syndrome", "Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts", "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome"; "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia", "Meckel syndrome 7", "Meckel syndrome, type 7", "Meckel syndrome, type 7; MKS7", "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst"; "Orphanet:3032"; , ; rdfs:label "NPHP3-related Meckel-like syndrome", "NPHP3-related Meckel-like syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia"^^xsd:anyURI; "ORPHA:3032" . _:d757d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070121"; "MONDO:equivalentTo" . _:d759d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004665"; "MONDO:equivalentTo" . _:d75ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid19979; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid19979 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.9"; "Attributed"@en . _:d75cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.9"; "NTBT (narrower term maps to a broader term)"@en . _:d75dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.9"; "ORDO:3032/attributed", "ORDO:3032/ntbt", "Orphanet:3032" . _:d75ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537756"; "MONDO:equivalentTo", "MONDO:ontobio" . _:d75fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:267010"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:267010"; "DOID:0070121", "GARD:0004665", "MONDO:equivalentTo", "ORDO:3032/e", "Orphanet:3032" . _:d762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2673885"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2673885"; "DOID:0070121", "GARD:0004665", "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:267010", "ORDO:3032/e", "Orphanet:3032" . _:d766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "url:https://www.ncbi.nlm.nih.gov/pubmed/18371931"; "DOID:0070121" . _:d767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Goldston syndrome"; "Orphanet:3032" . _:d768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MKS7"; "DOID:0070121", "MONDO:Lexical", "OMIM:267010" . _:d769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel syndrome type 7"; "Orphanet:3032" . _:d76ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel-Gruber syndrome, type 7"; "DOID:0070121" . _:d76bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel-like syndrome type 1"; "Orphanet:3032" . _:d76cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPHP3-related Meckel-like syndrome"; "GARD:0004665" . _:d76dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPHP3-related Meckel-like syndrome"; rdfs:comment "preferred label from MONDO" . _:d76ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome"; "GARD:0004665", "Orphanet:3032" . _:d76fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia"; "GARD:0004665" . _:d770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel syndrome 7"; "GARD:0004665" . _:d771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel syndrome, type 7"; "MONDO:Lexical", "OMIM:267010" . _:d772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel syndrome, type 7; MKS7"; "OMIM:267010" . _:d773d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst"; "OMIM:267010" . _:d774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3032" . _:d775d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia"^^xsd:anyURI; "GARD:0004665" . a owl:Class; rdfs:subClassOf ; "Primitive renal tubule syndrome"@en, "Renotubular dysgenesis"@en; "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS; see this term) or inherited in an autosomal recessive manner."@en; "orphanet"@en; "ICD-10:Q63.8", "OMIM:267430", "UMLS:C0266313"; rdfs:label "Renal tubular dysgenesis"@en; "ORPHA:3033" . _:d776d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q63.8"; "NTBT (narrower term maps to a broader term)"@en . _:d777d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:267430"; "BTNT (broader term maps to a narrower term)"@en . _:d779d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266313"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment."; , , , ; , , , , , , , ; "Isolated atresia of bile ducts"@en, "Non-syndromic biliary atresia"@en; "Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment."@en; "orphanet"@en; "true"; "COHD:196796", "DOID:13608", "GARD:0012010", "ICD-10:Q44.2", "ICD10:Q44.2", "ICD9:751.61", "MESH:D001656", "MONDO:0008867", "MSH:D001656", "MeSH:D001656", "MedDRA:10003650", "NCIT:C34421", "OMIM:210500", "SCTID:77480004", "UMLS:C0005411"; "Atresia of bile ducts", "Non-syndromic biliary atresia", "atresia of bile duct", "atresia of bile ducts", "biliary atresia", "biliary atresia, congenital", "congenital biliary atresia", "isolated atresia of bile ducts", "non-syndromic biliary atresia"; "EHBA", "biliary atresia, extrahepatic", "biliary atresia, extrahepatic; EHBA", "isolated biliary atresia"; "Orphanet:30391"; , ; rdfs:label "Biliary atresia", "Isolated biliary atresia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia"^^xsd:anyURI; "ORPHA:30391" . _:d789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment."; "Orphanet:30391" . _:d78cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:196796"; "MONDO:equivalentTo" . _:d78ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13608"; "MONDO:equivalentTo" . _:d790d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012010"; "MONDO:equivalentTo" . _:d792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q44.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q44.2"; "DOID:13608", "ORDO:30391/e", "Orphanet:30391" . _:d794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:751.61"; "DOID:13608", "MONDO:equivalentTo", "i2s" . _:d796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001656"; "DOID:13608", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:30391/e", "Orphanet:30391" . _:d797d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001656"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d7b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10003650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d7bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10003650"; "ORDO:30391/e", "Orphanet:30391" . _:d7bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34421"; "DOID:13608", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:d7bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:210500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d7c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:210500"; "MONDO:equivalentTo", "ORDO:30391/e", "Orphanet:30391" . _:d7c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:77480004"; "DOID:13608", "MONDO:equivalentTo" . _:d7c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005411"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d7c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005411"; "DOID:13608", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C34421", "OMIM:210500", "ORDO:30391/e", "Orphanet:30391" . _:d7c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of bile duct"; "DOID:13608" . _:d7ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atresia of bile ducts"; "Orphanet:30391" . _:d7ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary atresia"; rdfs:comment "preferred label from MONDO" . _:d7d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary atresia, congenital"; "DOID:13608", "ICD9CM_2006:751.61" . _:d7d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital biliary atresia"; "NCIT:C34421" . _:d7d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated atresia of bile ducts"; "Orphanet:30391" . _:d7d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic biliary atresia"; "Orphanet:30391" . _:d7d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EHBA"; "MONDO:Lexical", "OMIM:210500" . _:d7dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary atresia, extrahepatic"; "MONDO:Lexical", "OMIM:210500" . _:d7dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "biliary atresia, extrahepatic; EHBA"; "OMIM:210500" . _:d7dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated biliary atresia"; "Orphanet:30391" . _:d7e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012010" . _:d7e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:30391" . _:d7e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia"^^xsd:anyURI; "GARD:0012010" . a owl:Class; rdfs:subClassOf ; "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma."; ; , , , , , ; "orphanet"; "DOID:4644", "GARD:0010752", "ICD10:Q81.0", "ICD9:757.39", "MESH:D016110", "MONDO:0017610", "NCIT:C84692", "OMIM:615028", "OMIM:616487", "SCTID:67144006", "UMLS:C0079298"; "EBS", "EEB", "epidermolysis bullosa simplex"; "epidermolysis bullosa intraepidermic"; "Orphanet:304"; , ; rdfs:label "Epidermolysis bullosa simplex"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex"^^xsd:anyURI . _:d7e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma."; "Orphanet:304" . _:d7e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4644"; "MONDO:equivalentTo" . _:d7e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010752"; "MONDO:equivalentTo" . _:d7e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.0"; "DOID:4644", "MONDO:equivalentTo", "ORDO:304/e", "ORDO:304/specific", "Orphanet:304" . _:d7e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:d7ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016110"; "DOID:4644", "MONDO:equivalentTo" . _:d7efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84692"; "DOID:4644", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:d7f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616487"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:d7f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:67144006"; "DOID:4644", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:d7f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079298"; "DOID:4644", "MONDO:equivalentTo", "NCIT:C84692", "ORDO:304/e", "Orphanet:304" . _:d7fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EBS"; "Orphanet:304" . _:d7fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EEB"; "Orphanet:304" . _:d7fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa simplex"; "DOID:4644" . _:d800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa simplex"; rdfs:comment "preferred label from MONDO" . _:d802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa intraepidermic"; "GARD:0010752" . _:d803d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010752" . _:d804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:304" . _:d805d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex"^^xsd:anyURI; "GARD:0010752" . a owl:Class; rdfs:subClassOf ; "UMLS:C0032019"; rdfs:label "Pituitary tumor"@en; "ORPHA:304055" . _:d806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032019"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood."; , , , , , ; "Brunner syndrome"@en; "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood."@en; "orphanet", "orphanet"@en; "DOID:0060693", "GARD:0003531", "ICD-10:E70.8", "ICD10:E70.8", "MESH:C563156", "MONDO:0010379", "OMIM:300615", "SCTID:718210003", "UMLS:C0796275"; "Brunner syndrome", "monoamine oxidase A deficiency"; "BRNRS", "Brunner syndrome; BRNRS", "antisocial behavior, susceptibility to"; "Orphanet:3057"; ; rdfs:label "Monoamine oxidase A deficiency", "Monoamine oxidase A deficiency"@en; "ORPHA:3057" . _:d80bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood."; "Orphanet:3057" . _:d80cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060693"; "MONDO:equivalentTo" . _:d80dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003531"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:d80ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20060; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20060 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.8"; "Attributed"@en . _:d817d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.8"; "NTBT (narrower term maps to a broader term)"@en . _:d818d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.8"; "DOID:0060693", "ORDO:3057/attributed", "ORDO:3057/ntbt", "Orphanet:3057" . _:d81bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563156"; "DOID:0060693", "MONDO:equivalentTo", "MONDO:ontobio" . _:d81cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300615"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d81fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300615"; "DOID:0060693", "MONDO:equivalentTo", "ORDO:3057/e", "Orphanet:3057" . _:d820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718210003"; "MONDO:equivalentTo" . _:d821d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796275"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d823d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796275"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:300615", "Orphanet:3057" . _:d827d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brunner syndrome"; "OMIM:300615", "Orphanet:3057" . _:d829d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brunner syndrome"; rdfs:comment "preferred label from MONDO" . _:d82ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monoamine oxidase A deficiency"; "DOID:0060693" . _:d82cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRNRS"; "OMIM:300615" . _:d830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brunner syndrome; BRNRS"; "OMIM:300615" . _:d831d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "antisocial behavior, susceptibility to"; "OMIM:300615" . _:d832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3057" . a owl:Class; rdfs:subClassOf , , ; " mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS.", "mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS."; , , , ; ; "PHTS"@en; "PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS."@en; "orphanet", "orphanet"@en; "DOID:0080191", "GARD:0012800", "MONDO:0017623", "SCTID:722859001", "UMLS:C1959582"; "PHTS", "PTEN hamartoma tumor syndrome"; "Orphanet:306498"; , , ; rdfs:label "PTEN hamartoma tumor syndrome", "PTEN hamartoma tumor syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome"^^xsd:anyURI; "ORPHA:306498" . _:d833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS."; "Orphanet:306498" . _:d834d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306498" . _:d835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080191"; "MONDO:equivalentTo" . _:d837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012800"; "MONDO:equivalentTo" . _:d83ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722859001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:d83bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1959582"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d83ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1959582"; "MONDO:equivalentTo", "ORDO:306498/e", "Orphanet:306498" . _:d83fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHTS"; "Orphanet:306498" . _:d841d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PTEN hamartoma tumor syndrome"; rdfs:comment "preferred label from MONDO" . _:d843d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012800" . _:d845d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306498" . _:d847d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome"^^xsd:anyURI; "GARD:0012800" . a owl:Class; rdfs:subClassOf ; "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal."; , , ; "ICD10:N04", "ICD10:N04.8", "MONDO:0013621", "OMIM:614199", "UMLS:C3280113"; "LAMB2-related infantile-onset nephrotic syndrome"; "NPHS5", "nephrotic syndrome, type 5, with or without ocular abnormalities", "nephrotic syndrome, type 5, with or without ocular abnormalities; NPHS5"; "Orphanet:306507"; ; rdfs:label "LAMB2-related infantile-onset nephrotic syndrome" . _:d84bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal."; "Orphanet:306507" . _:d84cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.8"; "ORDO:306507/attributed", "ORDO:306507/ntbt", "Orphanet:306507" . _:d84fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614199"; "MONDO:equivalentTo", "ORDO:306507/e", "Orphanet:306507" . _:d850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3280113"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614199" . _:d853d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAMB2-related infantile-onset nephrotic syndrome"; rdfs:comment "preferred label from MONDO" . _:d854d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPHS5"; "MONDO:Lexical", "OMIM:614199" . _:d855d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome, type 5, with or without ocular abnormalities"; "MONDO:Lexical", "OMIM:614199" . _:d857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome, type 5, with or without ocular abnormalities; NPHS5"; "OMIM:614199" . _:d859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306507" . a owl:Class; rdfs:subClassOf ; "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)."; ; , ; "orphanet"; "GARD:0009891", "ICD10:E83.4", "MONDO:0017624", "UMLS:CN203511"; "FHHNC", "Michellis-Castrillo syndrome", "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis"; "Orphanet:306516"; , ; rdfs:label "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis"^^xsd:anyURI . _:d861d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)."; "Orphanet:306516" . _:d863d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009891"; "MONDO:equivalentTo" . _:d866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.4"; "ORDO:306516/attributed", "ORDO:306516/ntbt", "Orphanet:306516" . _:d868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203511"; "MONDO:equivalentTo" . _:d86ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHHNC"; "Orphanet:306516" . _:d86bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Michellis-Castrillo syndrome"; "Orphanet:306516" . _:d86dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis"; rdfs:comment "preferred label from MONDO" . _:d86ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009891" . _:d86fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306516" . _:d870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis"^^xsd:anyURI; "GARD:0009891" . a owl:Class; rdfs:subClassOf ; , , ; "MONDO:0017625", "SCTID:711151004", "UMLS:CN227163"; "familial primary hypomagnesemia with hypocalcuria"; "Orphanet:306519"; ; rdfs:label "Familial primary hypomagnesemia with hypocalcuria" . _:d872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:711151004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.80/0.42/0.91" . _:d873d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227163"; "MONDO:equivalentTo" . _:d874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hypomagnesemia with hypocalcuria"; rdfs:comment "preferred label from MONDO" . _:d875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306519" . a owl:Class; rdfs:subClassOf ; "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)."; , ; "orphanet"; "ICD10:E83.4", "MONDO:0017626", "UMLS:CN227164"; "familial primary hypomagnesemia with normocalcuria"; "Orphanet:306522"; ; rdfs:label "Familial primary hypomagnesemia with normocalcuria" . _:d876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)."; "Orphanet:306522" . _:d877d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.4"; "ORDO:306522/attributed", "ORDO:306522/ntbt", "Orphanet:306522" . _:d878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227164"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hypomagnesemia with normocalcuria"; rdfs:comment "preferred label from MONDO" . _:d87ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306522" . a owl:Class; rdfs:subClassOf , ; , , ; "MONDO:0021062", "OMIM:173650", "UMLS:CN203514"; "hereditary acrokeratotic poikiloderma of Kindler-Weary"; "Orphanet:306539"; ; rdfs:label "Hereditary acrokeratotic poikiloderma of Kindler-Weary" . _:d87ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203514"; "MONDO:equivalentTo" . _:d87fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary acrokeratotic poikiloderma of Kindler-Weary"; rdfs:comment "preferred label from MONDO" . _:d882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306539" . a owl:Class; rdfs:subClassOf ; "Rare tumor of gallbladder and EBT"@en; "UMLS:C0750952"; rdfs:label "Rare tumor of gallbladder and extrahepatic biliary tract"@en; "ORPHA:306633" . _:d883d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0750952"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Rare tumor of liver and IBT"@en; "UMLS:C0023903"; rdfs:label "Rare tumor of liver and intrahepatic biliary tract"@en; "ORPHA:306636" . _:d884d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023903"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , ; "A form of familial tumoral calcinosis occurring in a setting of hyperphosphatemia.", "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis (see these tems)."; , , ; ; "Hypercalcemic tumoral calcinosis"@en; "Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved."@en; "orphanet", "orphanet"@en; "DC:0000445", "GARD:0010877", "ICD-10:M11.2", "ICD10:M11.2", "MedDRA:10059364", "OMIM:211900", "OMIM:617993", "OMIM:617994", "Orphanet:53715"; "GALNT3-CDG", "Hypercalcemic tumoral calcinosis", "familial tumoral calcinosis"; "Orphanet:306661"; , ; rdfs:label "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"@en, "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis"^^xsd:anyURI; "ORPHA:306661" . _:d890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis (see these tems)."; "Orphanet:53715" . _:d891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:53715" . _:d892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000445"; "MONDO:equivalentTo" . _:d894d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010877"; "MONDO:equivalentTo" . _:d896d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20126; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20126 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M11.2"; "Attributed"@en . _:d899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M11.2"; "NTBT (narrower term maps to a broader term)"@en . _:d89bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M11.2"; "ORDO:53715/attributed", "ORDO:53715/ntbt", "Orphanet:53715" . _:d89ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059364"; "ORDO:53715/e", "Orphanet:53715" . _:d8a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:211900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d8a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617993"; "BTNT (broader term maps to a narrower term)"@en . _:d8a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617994"; "BTNT (broader term maps to a narrower term)"@en . _:d8a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:53715"; "MONDO:equivalentTo" . _:d8a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial tumoral calcinosis"; rdfs:comment "preferred label from MONDO" . _:d8a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010877" . _:d8a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:53715" . _:d8a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis"^^xsd:anyURI; "GARD:0010877" . a owl:Class; rdfs:subClassOf ; rdfs:label "Miscellaneous movement disorder due to neurodegenerative disease"@en; "ORPHA:306695" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017646", "UMLS:CN203538"; "neurodegenerative disease with chorea"; "Orphanet:306719"; ; rdfs:label "Neurodegenerative disease with chorea" . _:d8b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203538"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d8b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurodegenerative disease with chorea"; rdfs:comment "preferred label from MONDO" . _:d8b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306719" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0017656"; "motor stereotypies"; "Orphanet:306765"; ; rdfs:label "Motor stereotypies" . _:d8b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "motor stereotypies"; rdfs:comment "preferred label from MONDO" . _:d8bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:306765" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic parkinsonian disorder" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0017661", "UMLS:CN203548"; "rare parkinsonian syndrome due to genetic neurodegenerative disease"; "Orphanet:307055"; , ; rdfs:label "Rare parkinsonian syndrome due to genetic neurodegenerative disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:d8bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203548"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d8bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare parkinsonian syndrome due to genetic neurodegenerative disease"; rdfs:comment "preferred label from MONDO" . _:d8c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:307055" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0017662", "UMLS:CN203549"; "miscellaneous movement disorder due to genetic neurodegenerative disease"; "Orphanet:307058"; ; rdfs:label "Miscellaneous movement disorder due to genetic neurodegenerative disease", "Miscellaneous movement disorder due to genetic neurodegenerative disease"@en; "ORPHA:307058" . _:d8dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203549"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d8dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "miscellaneous movement disorder due to genetic neurodegenerative disease"; rdfs:comment "preferred label from MONDO" . _:d8ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:307058" . a owl:Class; rdfs:subClassOf , ; , , , ; "MONDO:0017663", "Orphanet:307064", "UMLS:CN227173", "UMLS:CN227174"; "inherited tremor disorder", "rare genetic myoclonus"; "Orphanet:307061"; , ; rdfs:label "Rare genetic tremor disorder"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:d8e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:307064"; "MONDO:equivalentTo" . _:d8e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227173"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d8e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227174"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d8e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited tremor disorder"; rdfs:comment "preferred label from MONDO" . _:d8ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic myoclonus"; "MONDO:0017664" . _:d8ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:307061", "Orphanet:307064" . a owl:Class; rdfs:subClassOf ; , , ; "Diffuse PPK"@en, "Diffuse keratosis palmoplantaris"@en, "Diffuse palmoplantar hyperkeratosis"@en; "HP:0007435", "ICD-10:Q82.8", "ICD10:Q82.8", "ICD9:757.39", "MONDO:0017666", "SCTID:400123002", "UMLS:C0022584"; "Diffuse PPK", "Diffuse keratosis palmoplantaris", "Diffuse palmoplantar hyperkeratosis", "diffuse PPK", "diffuse keratosis palmoplantaris", "diffuse palmoplantar hyperkeratosis", "diffuse palmoplantar keratoderma"; "Orphanet:307141"; ; rdfs:label "Diffuse palmoplantar keratoderma", "Diffuse palmoplantar keratoderma"@en; "ORPHA:307141" . _:d8f2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20156; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20156 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "Attributed"@en . _:d8f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:d8f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "ORDO:307141/attributed", "ORDO:307141/ntbt", "Orphanet:307141" . _:d8fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:d8fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:400123002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.09" . _:d8fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022584"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d8fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022584"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:307141/e", "Orphanet:307141" . _:d8ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse PPK"; "Orphanet:307141" . _:d900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse keratosis palmoplantaris"; "Orphanet:307141" . _:d901d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse palmoplantar hyperkeratosis"; "Orphanet:307141" . _:d902d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse palmoplantar keratoderma"; rdfs:comment "preferred label from MONDO" . _:d903d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:307141" . a owl:Class; rdfs:subClassOf ; , ; "Disease with diffuse palmoplantar hyperkeratosis as a major feature"@en; "ICD-10:Q82.8", "ICD10:Q82.8", "MONDO:0017669", "UMLS:CN203554"; "Disease with diffuse palmoplantar hyperkeratosis as a major feature", "disease with diffuse palmoplantar hyperkeratosis as a major feature", "disease with diffuse palmoplantar keratoderma as a major feature"; "Orphanet:307711"; , ; rdfs:label "Disease with diffuse palmoplantar keratoderma as a major feature", "Disease with diffuse palmoplantar keratoderma as a major feature"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI; "ORPHA:307711" . _:d908d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20169; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20169 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "Attributed"@en . _:d909d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:d90bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "ORDO:307711/attributed", "ORDO:307711/ntbt", "Orphanet:307711" . _:d90cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203554"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:d90dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease with diffuse palmoplantar hyperkeratosis as a major feature"; "Orphanet:307711" . _:d90ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease with diffuse palmoplantar keratoderma as a major feature"; rdfs:comment "preferred label from MONDO" . _:d90fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:307711" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:Q82.8", "MONDO:0017671", "UMLS:CN203557"; "Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature", "autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature", "autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature"; "Orphanet:307804"; , ; rdfs:label "Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:d916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "ORDO:307804/attributed", "ORDO:307804/ntbt", "Orphanet:307804" . _:d91ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203557"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:d91ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature"; "Orphanet:307804" . _:d91fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature"; rdfs:comment "preferred label from MONDO" . _:d921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:307804" . a owl:Class; rdfs:subClassOf ; , , ; "ICD9:270.8", "MONDO:0017684", "SCTID:237940008", "UMLS:C0342707"; "disorder of beta and omega amino acid metabolism"; "Orphanet:308407"; ; rdfs:label "Disorder of beta and omega amino acid metabolism" . _:d925d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:d927d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237940008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:d92ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342707"; "MONDO:equivalentTo", "ORDO:308407/e", "Orphanet:308407" . _:d92fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of beta and omega amino acid metabolism"; rdfs:comment "preferred label from MONDO" . _:d931d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:308407" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0017688", "UMLS:CN227176"; "disorder of glycolysis"; "Orphanet:308459"; ; rdfs:label "Disorder of glycolysis" . _:d934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227176"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycolysis"; rdfs:comment "preferred label from MONDO" . _:d936d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:308459" . a owl:Class; rdfs:subClassOf ; , , ; "ICD-10:E74.2", "ICD10:E74.2", "MONDO:0017690", "SCTID:237963003", "UMLS:C0342745"; "disorder of galactose metabolism"; "Orphanet:308467"; ; rdfs:label "Disorder of galactose metabolism", "Disorder of galactose metabolism"@en; "ORPHA:308467" . _:d937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d938d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20191; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20191 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.2"; "Specific code (The term has its own code in the ICD10)"@en . _:d939d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.2"; "ORDO:308467/e", "ORDO:308467/specific", "Orphanet:308467" . _:d93ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237963003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:d93bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342745"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d93cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342745"; "MONDO:equivalentTo", "ORDO:308467/e", "Orphanet:308467" . _:d93dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of galactose metabolism"; rdfs:comment "preferred label from MONDO" . _:d93ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:308467" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:E74.0", "MONDO:0017693", "UMLS:CN203589"; "GSD due to glycogen synthase deficiency", "GSD0", "Glycogenosis due to glycogen synthase deficiency", "glycogen storage disease due to glycogen synthase deficiency", "glycogen storage disease type 0", "glycogenosis due to glycogen synthase deficiency"; "Orphanet:308520"; ; rdfs:label "Glycogen storage disease due to glycogen synthase deficiency" . _:d93fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:308520/attributed", "ORDO:308520/ntbt", "Orphanet:308520" . _:d942d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203589"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:d943d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to glycogen synthase deficiency"; "Orphanet:308520" . _:d945d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD0"; "https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_0" . _:d947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to glycogen synthase deficiency"; rdfs:comment "preferred label from MONDO" . _:d94bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 0"; "https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_0" . _:d94dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to glycogen synthase deficiency"; "Orphanet:308520" . _:d94fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:308520" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017703", "UMLS:CN227177"; "disorder of glyoxylate metabolism"; "Orphanet:308998"; ; rdfs:label "Disorder of glyoxylate metabolism" . _:d950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227177"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glyoxylate metabolism"; rdfs:comment "preferred label from MONDO" . _:d955d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:308998" . a owl:Class; rdfs:subClassOf , , , , ; "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome."; , ; "GARD:0002173", "ICD10:G40.1", "MONDO:0017704", "UMLS:CN227178"; "familial partial epilepsy", "hereditary partial epilepsy"; "epilepsy, partial, familial"; "Orphanet:309"; , ; rdfs:label "Familial partial epilepsy"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial"^^xsd:anyURI . _:d95ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:d95fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002173"; "MONDO:equivalentTo" . _:d960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.1"; "ORDO:309/attributed", "ORDO:309/ntbt", "Orphanet:309" . _:d961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227178"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d962d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial partial epilepsy"; rdfs:comment "preferred label from MONDO" . _:d963d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary partial epilepsy"; "MONDO:patterns/hereditary" . _:d964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epilepsy, partial, familial"; "GARD:0002173" . _:d966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002173" . _:d968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309" . _:d96ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial"^^xsd:anyURI; "GARD:0002173" . a owl:Class; rdfs:subClassOf ; "Congenital pulmonary venous connection anomaly"@en; "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous."@en; "orphanet"@en; "ICD-10:Q26.2", "ICD-10:Q26.3", "ICD-10:Q26.4", "UMLS:C0265916"; rdfs:label "Congenital pulmonary venous return anomaly"@en; "ORPHA:3090" . _:d96ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q26.2"; "BTNT (broader term maps to a narrower term)"@en . _:d970d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q26.3"; "BTNT (broader term maps to a narrower term)"@en . _:d971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q26.4"; "BTNT (broader term maps to a narrower term)"@en . _:d973d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265916"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017706", "UMLS:CN227180"; "disorder of carbohydrate absorption and transport"; "Orphanet:309001"; ; rdfs:label "Disorder of carbohydrate absorption and transport" . _:d979d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227180"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d97ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of carbohydrate absorption and transport"; rdfs:comment "preferred label from MONDO" . _:d97cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309001" . a owl:Class; rdfs:subClassOf ; "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."; , ; , , , , , ; "disorder of lipid metabolism", "dyslipidemia", "lipid metabolism disorder"; "DOID:3146", "ICD9:272.8", "ICD9:272.9", "MONDO:0002525", "MedDRA:10061227", "NCIT:C97092", "SCTID:267431006", "UMLS:C0154251"; "inherited lipid metabolism disorder"; "fatty acid metabolism disorder"; "Orphanet:309005"; ; rdfs:label "Disorder of lipid metabolism", "Disorder of lipid metabolism"@en; "ORPHA:309005" . _:d984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."; "NCIT:C97092" . _:d985d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lipid metabolism"; "MONDO:0017707" . _:d987d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dyslipidemia"; "DOID:3146" . _:d988d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipid metabolism disorder"; "DOID:3146" . _:d989d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3146"; "MONDO:equivalentTo" . _:d98ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:272.8"; "MONDO:relatedTo", "i2s" . _:d98bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:272.9"; "MONDO:equivalentTo", "i2s" . _:d98dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061227"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d98fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061227"; "ORDO:309005/e", "Orphanet:309005" . _:d991d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97092"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.81/0.12" . _:d993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:267431006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.82/0.20" . _:d995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154251"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d998d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154251"; "MONDO:equivalentTo", "NCIT:C97092", "ORDO:309005/e", "Orphanet:309005" . _:d99ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited lipid metabolism disorder"; rdfs:comment "preferred label from MONDO" . _:d99cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fatty acid metabolism disorder"; "DOID:3146" . _:d99ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309005" . a owl:Class; rdfs:subClassOf ; rdfs:label "Congenital systemic veins anomaly"@en; "ORPHA:3091" . a owl:Class; rdfs:subClassOf ; "ICD-10:E71.3", "ICD10:E71.3"; rdfs:label "Disorder of fatty acid oxidation and ketogenesis"@en, "Disorder of mitochondrial fatty acid oxidation"; "ORPHA:309115" . _:d9a2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20243; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20243 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "Attributed"@en . _:d9a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; , , ; "ICD-10:E71.3", "ICD10:E71.3", "MONDO:0017714", "SCTID:82319005", "UMLS:C0268635"; "acyl-CoA dehydrogenase deficiency"; "Orphanet:309120"; ; rdfs:label "Acyl-CoA dehydrogenase deficiency", "Acyl-CoA dehydrogenase deficiency"@en; "ORPHA:309120" . _:d9aad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20246; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20246 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "Attributed"@en . _:d9abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "NTBT (narrower term maps to a broader term)"@en . _:d9add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:309120/attributed", "ORDO:309120/ntbt", "Orphanet:309120" . _:d9afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:82319005"; "MONDO:equivalentTo" . _:d9b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268635"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:d9b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268635"; "MONDO:equivalentTo", "ORDO:309120/e", "Orphanet:309120" . _:d9b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acyl-CoA dehydrogenase deficiency"; rdfs:comment "preferred label from MONDO" . _:d9b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309120" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:E71.3", "MONDO:0017715", "UMLS:C1291230"; "3-hydroxyacyl-CoA dehydrogenase deficiency"; "Orphanet:309127"; ; rdfs:label "3-hydroxyacyl-CoA dehydrogenase deficiency" . _:d9b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:309127/attributed", "ORDO:309127/ntbt", "Orphanet:309127" . _:d9bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-hydroxyacyl-CoA dehydrogenase deficiency"; rdfs:comment "preferred label from MONDO" . _:d9bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309127" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E71.3", "MONDO:0017716", "UMLS:CN227184"; "disorder of carnitine cycle and carnitine transport"; "Orphanet:309130"; ; rdfs:label "Disorder of carnitine cycle and carnitine transport" . _:d9c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:309130/attributed", "ORDO:309130/ntbt", "Orphanet:309130" . _:d9c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227184"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:d9c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of carnitine cycle and carnitine transport"; rdfs:comment "preferred label from MONDO" . _:d9cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309130" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017718", "UMLS:CN227185"; "mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes"; "Orphanet:309136"; ; rdfs:label "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" . _:d9cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227185"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:d9d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes"; rdfs:comment "preferred label from MONDO" . _:d9d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309136" . a owl:Class; rdfs:subClassOf , ; "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications."; ; , , , , , ; "HOMG1"@en, "HSH"@en, "Hypomagnesemia caused by selective magnesium malabsorption"@en, "Hypomagnesemia intestinal type 1"@en, "Intestinal hypomagnesemia with secondary hypocalcemia"@en, "PHSH"@en; "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications."@en; "orphanet", "orphanet"@en; "DOID:0060883", "GARD:0013072", "ICD-10:E83.4", "ICD10:E83.4", "MESH:C566593", "MONDO:0011176", "OMIM:602014", "SCTID:190856003", "UMLS:C1865974"; "HOMG1", "HSH", "Hypomagnesemia caused by selective magnesium malabsorption", "Hypomagnesemia intestinal type 1", "Intestinal hypomagnesemia with secondary hypocalcemia", "PHSH", "TRPM6 familial primary hypomagnesemia", "TRPM6 primary hypomagnesemia", "familial primary hypomagnesemia caused by mutation in TRPM6", "hypomagnesemia caused by selective magnesium malabsorption", "hypomagnesemia intestinal type 1", "hypomagnesemic tetany", "intestinal hypomagnesemia 1", "intestinal hypomagnesemia type 1", "intestinal hypomagnesemia with secondary hypocalcemia", "primary hypomagnesemia caused by mutation in TRPM6", "primary hypomagnesemia with secondary hypocalcemia"; "Homg", "hypomagnesemia 1, intestinal", "hypomagnesemia 1, intestinal; HOMG1", "hypomagnesemia with secondary hypocalcemia", "hypomagnesemia, intestinal, with secondary hypocalcemia"; "Orphanet:30924"; ; rdfs:label "Primary hypomagnesemia with secondary hypocalcemia", "Primary hypomagnesemia with secondary hypocalcemia"@en; "ORPHA:30924" . _:d9d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications."; "Orphanet:30924" . _:d9d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060883"; "MONDO:equivalentTo" . _:d9dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013072"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:da03d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20268; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20268 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "Attributed"@en . _:da08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "NTBT (narrower term maps to a broader term)"@en . _:da0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.4"; "DOID:0060883", "ORDO:30924/attributed", "ORDO:30924/ntbt", "Orphanet:30924" . _:da0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566593"; "MONDO:equivalentTo", "MONDO:ontobio" . _:da11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602014"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:da13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602014"; "DOID:0060883", "MONDO:equivalentTo", "ORDO:30924/e", "Orphanet:30924" . _:da15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190856003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.75/0.91" . _:da17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1865974"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:da1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1865974"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:602014", "Orphanet:30924" . _:da1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOMG1"; "DOID:0060883", "MONDO:Lexical", "OMIM:602014", "Orphanet:30924" . _:da21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSH"; "Orphanet:30924" . _:da22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHSH"; "Orphanet:30924" . _:da24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRPM6 familial primary hypomagnesemia"; "MONDO:patterns/disease_series_by_gene" . _:da26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRPM6 primary hypomagnesemia"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:da28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia caused by selective magnesium malabsorption"; "DOID:0060883", "Orphanet:30924" . _:da2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia intestinal type 1"; "DOID:0060883", "Orphanet:30924" . _:da2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemic tetany"; "DOID:0060883", "OMIM:602014" . _:da2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal hypomagnesemia 1"; rdfs:comment "preferred label from MONDO" . _:da32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal hypomagnesemia type 1"; "DOID:0060883", "MONDORULE:1" . _:da35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal hypomagnesemia with secondary hypocalcemia"; "DOID:0060883", "Orphanet:30924" . _:da37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hypomagnesemia caused by mutation in TRPM6"; "MONDO:design_pattern" . _:da39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hypomagnesemia with secondary hypocalcemia"; "DOID:0060883" . _:da3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Homg"; "OMIM:602014" . _:da3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia 1, intestinal"; "MONDO:Lexical", "OMIM:602014" . _:da3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia 1, intestinal; HOMG1"; "OMIM:602014" . _:da3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia with secondary hypocalcemia"; "OMIM:602014" . _:da40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia, intestinal, with secondary hypocalcemia"; "OMIM:602014" . _:da41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:30924" . a owl:Class; rdfs:subClassOf ; ; "GARD:0010670", "ICD10:E77.0", "ICD10:E77.1", "ICD10:E77.8", "ICD10:E77.9", "MONDO:0017731"; "glycoproteinosis"; "Orphanet:309279"; , ; rdfs:comment "See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227"; rdfs:label "Glycoproteinosis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis"^^xsd:anyURI . _:da42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010670"; "MONDO:equivalentTo" . _:da43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.0"; "ORDO:309279/btnt", "ORDO:309279/specific", "Orphanet:309279" . _:da44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.1"; "ORDO:309279/btnt", "ORDO:309279/specific", "Orphanet:309279" . _:da45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:309279/btnt", "ORDO:309279/specific", "Orphanet:309279" . _:da46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.9"; "ORDO:309279/btnt", "ORDO:309279/specific", "Orphanet:309279" . _:da47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycoproteinosis"; rdfs:comment "preferred label from MONDO" . _:da48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010670" . _:da49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309279" . _:da4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227"; "MONDO:cjm" . _:da4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis"^^xsd:anyURI; "GARD:0010670" . a owl:Class; rdfs:subClassOf ; , ; "ICD-10:E74.0", "ICD10:E74.0", "MONDO:0017738", "UMLS:CN203642"; "lysosomal glycogen storage disease"; "Orphanet:309337"; ; rdfs:label "Lysosomal glycogen storage disease", "Lysosomal glycogen storage disease"@en; "ORPHA:309337" . _:da51d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20307; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20307 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Attributed"@en . _:da53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:da54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:relatedTo", "ORDO:309337/attributed", "ORDO:309337/ntbt", "Orphanet:309337" . _:da55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203642"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:da56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal glycogen storage disease"; rdfs:comment "preferred label from MONDO" . _:da57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309337" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017739", "UMLS:CN227186"; "disorder of lysosomal-related organelles"; "Orphanet:309340"; ; rdfs:label "Disorder of lysosomal-related organelles" . _:da5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227186"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:da5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lysosomal-related organelles"; rdfs:comment "preferred label from MONDO" . _:da5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309340" . a owl:Class; rdfs:subClassOf , ; "A disease that has its basis in the disruption of protein O-linked glycosylation."; , ; "ICD10:E77.8", "MONDO:0017741", "UMLS:CN227188"; "disorder of protein O-glycosylation", "disorder of protein O-linked glycosylation", "protein O-linked glycosylation disease"; "disorder of protein O-linked glycosylation"; "Orphanet:309447"; ; rdfs:label "Disorder of protein O-glycosylation" . _:da63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disease that has its basis in the disruption of protein O-linked glycosylation."; "MONDO:patterns/basis_in_disruption_of_process" . _:da64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:309447/attributed", "ORDO:309447/ntbt", "Orphanet:309447" . _:da65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227188"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:da67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of protein O-glycosylation"; rdfs:comment "preferred label from MONDO" . _:da68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of protein O-linked glycosylation"; "MONDO:patterns/basis_in_disruption_of_process" . _:da69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "protein O-linked glycosylation disease"; "MONDO:design_pattern" . _:da6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of protein O-linked glycosylation"; "MONDO:patterns/basis_in_disruption_of_process" . _:da6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309447" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E77.8", "MONDO:0017742", "UMLS:CN227189"; "disorder of O-xylosylglycan synthesis"; "Orphanet:309450"; ; rdfs:label "Disorder of O-xylosylglycan synthesis" . _:da70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:309450/attributed", "ORDO:309450/ntbt", "Orphanet:309450" . _:da71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227189"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:da73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of O-xylosylglycan synthesis"; rdfs:comment "preferred label from MONDO" . _:da75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309450" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E77.8", "MONDO:0017743", "UMLS:CN227190"; "disorder of O-N-acetylgalactosaminylglycan synthesis"; "Orphanet:309458"; ; rdfs:label "Disorder of O-N-acetylgalactosaminylglycan synthesis" . _:da7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:309458/attributed", "ORDO:309458/ntbt", "Orphanet:309458" . _:da7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227190"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:da7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of O-N-acetylgalactosaminylglycan synthesis"; rdfs:comment "preferred label from MONDO" . _:da80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309458" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E77.8", "MONDO:0017745", "UMLS:CN227192"; "disorder of O-mannosylglycan synthesis"; "Orphanet:309469"; ; rdfs:label "Disorder of O-mannosylglycan synthesis" . _:da84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:309469/attributed", "ORDO:309469/ntbt", "Orphanet:309469" . _:da86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227192"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:da87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of O-mannosylglycan synthesis"; rdfs:comment "preferred label from MONDO" . _:da8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309469" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E77.8", "MONDO:0017747", "UMLS:CN227193"; "disorder of fucoglycosan synthesis"; "Orphanet:309505"; ; rdfs:label "Disorder of fucoglycosan synthesis" . _:da8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:309505/attributed", "ORDO:309505/ntbt", "Orphanet:309505" . _:da8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227193"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:da90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of fucoglycosan synthesis"; rdfs:comment "preferred label from MONDO" . _:da91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309505" . a owl:Class; rdfs:subClassOf , , ; , ; "ICD10:E77.8", "MONDO:0017748", "OMIM:617816", "UMLS:CN227194"; "Disorder of glycosphingolipid and GPI-anchored proteins glycosylation", "disorder of glycosphingolipid and GPI-anchored proteins glycosylation", "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"; "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"; "Orphanet:309515"; ; rdfs:label "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" . _:da93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:309515/attributed", "ORDO:309515/ntbt", "Orphanet:309515" . _:da96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227194"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:da98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycosphingolipid and GPI-anchored proteins glycosylation"; "Orphanet:309515" . _:da9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"; rdfs:comment "preferred label from MONDO" . _:da9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"; "Orphanet:309515" . _:da9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309515" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E77.8", "MONDO:0017749", "UMLS:CN227195"; "disorder of multiple glycosylation"; "Orphanet:309526"; ; rdfs:label "Disorder of multiple glycosylation" . _:daa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:309526/attributed", "ORDO:309526/ntbt", "Orphanet:309526" . _:daa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227195"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:daa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of multiple glycosylation"; rdfs:comment "preferred label from MONDO" . _:daa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309526" . a owl:Class; rdfs:subClassOf , , , ; "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations."; ; , , , ; "Meacham-Winn-Culler syndrome"@en, "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome"@en; "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations."@en; "orphanet", "orphanet"@en; "GARD:0003432", "ICD-10:Q87.8", "ICD10:Q87.8", "MONDO:0012164", "OMIM:608978", "SCTID:722461004", "UMLS:C1837026", "UMLS:C2931752"; "Meacham syndrome", "Meacham-Winn-Culler syndrome", "Rhabdomyomatous dysplasia - cardiopathy - genital anomalies", "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome"; "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype", "Meacham Winn Culler syndrome"; "Orphanet:3097"; ; rdfs:label "Meacham syndrome", "Meacham syndrome"@en; "ORPHA:3097" . _:daafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations."; "Orphanet:3097" . _:dab1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003432"; "MONDO:equivalentTo", "Orphanet-shared" . _:dab4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20353; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20353 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:dab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:dab6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:3097/attributed", "ORDO:3097/ntbt", "Orphanet:3097" . _:dab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608978"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dab8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608978"; "MONDO:equivalentTo", "ORDO:3097/e", "Orphanet:3097" . _:dab9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722461004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:dabbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1837026"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dabdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1837026"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:608978", "Orphanet:3097" . _:dabfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931752"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meacham syndrome"; "OMIM:608978" . _:dac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meacham syndrome"; rdfs:comment "preferred label from MONDO" . _:dac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meacham-Winn-Culler syndrome"; "Orphanet:3097" . _:dac3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome"; "Orphanet:3097" . _:dac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype"; "GARD:0003432" . _:dac5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meacham Winn Culler syndrome"; "GARD:0003432" . _:dac6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3097" . a owl:Class; rdfs:subClassOf ; , ; "GARD:0012476", "MONDO:0017753", "UMLS:CN227198"; "disorder of peroxisomal alpha-, beta- and omega-oxidation"; "Orphanet:309810"; , ; rdfs:label "Disorder of peroxisomal alpha-, beta- and omega-oxidation"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation"^^xsd:anyURI . _:daccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012476"; "MONDO:equivalentTo" . _:dacdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227198"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:daced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of peroxisomal alpha-, beta- and omega-oxidation"; rdfs:comment "preferred label from MONDO" . _:dacfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012476" . _:dad0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309810" . _:dad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation"^^xsd:anyURI; "GARD:0012476" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process."; , , ; "disorder of porphyrin and haem metabolism"; "ICD-10:E80.0", "ICD-10:E80.1", "ICD-10:E80.2", "ICD-10:E80.3", "ICD-10:E80.4", "ICD-10:E80.5", "ICD-10:E80.6", "ICD-10:E80.7", "ICD10:E80.0", "ICD10:E80.1", "ICD10:E80.2", "ICD10:E80.3", "ICD10:E80.4", "ICD10:E80.5", "ICD10:E80.6", "ICD10:E80.7", "MONDO:0017754", "SCTID:403832004", "UMLS:C1275125"; "inborn disorder of porphyrin and haem metabolism", "inborn disorder of porphyrin metabolism", "inborn error of porphyrin-containing compound metabolic process", "inborn porphyrin-containing compound metabolic process disorder", "inherited disorder of porphyrin metabolism", "rare inborn error of porphyrin-containing compound metabolic process"; "rare inborn error of porphyrin-containing compound metabolic process"; "Orphanet:309813"; ; rdfs:comment "Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired."; rdfs:label "Disorder of porphyrin and haem metabolism", "Disorder of porphyrin and heme metabolism"@en; "ORPHA:309813" . _:dad2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process."; "MONDO:patterns/inborn_metabolic" . _:dad3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of porphyrin and haem metabolism"; "Orphanet:309813" . _:dad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.0"; "BTNT (broader term maps to a narrower term)"@en . _:dad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.0"; "Specific code (The term has its own code in the ICD10)"@en . _:dad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.1"; "BTNT (broader term maps to a narrower term)"@en . _:dad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.1"; "Specific code (The term has its own code in the ICD10)"@en . _:dad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "BTNT (broader term maps to a narrower term)"@en . _:dad9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "Specific code (The term has its own code in the ICD10)"@en . _:dadbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.3"; "BTNT (broader term maps to a narrower term)"@en . _:daddd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20385; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20385 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.3"; "Specific code (The term has its own code in the ICD10)"@en . _:dadfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.4"; "BTNT (broader term maps to a narrower term)"@en . _:dae3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.4"; "Specific code (The term has its own code in the ICD10)"@en . _:dae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.5"; "BTNT (broader term maps to a narrower term)"@en . _:dae5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.5"; "Specific code (The term has its own code in the ICD10)"@en . _:dae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.6"; "BTNT (broader term maps to a narrower term)"@en . _:dae9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.6"; "Specific code (The term has its own code in the ICD10)"@en . _:daebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.7"; "BTNT (broader term maps to a narrower term)"@en . _:daedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.7"; "Specific code (The term has its own code in the ICD10)"@en . _:daefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.0"; "ORDO:309813/btnt", "ORDO:309813/specific", "Orphanet:309813" . _:daf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.1"; "ORDO:309813/btnt", "ORDO:309813/specific", "Orphanet:309813" . _:daf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.2"; "ORDO:309813/btnt", "ORDO:309813/specific", "Orphanet:309813" . _:daf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.3"; "ORDO:309813/btnt", "ORDO:309813/specific", "Orphanet:309813" . _:daf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.4"; "MONDO:relatedTo", "ORDO:309813/btnt", "ORDO:309813/specific", "Orphanet:309813" . _:dafad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.5"; "MONDO:superClassOf", "ORDO:309813/btnt", "ORDO:309813/specific", "Orphanet:309813" . _:dafed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.6"; "ORDO:309813/btnt", "ORDO:309813/specific", "Orphanet:309813" . _:db00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.7"; "ORDO:309813/btnt", "ORDO:309813/specific", "Orphanet:309813" . _:db01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:403832004"; "MONDO:equivalentTo" . _:db03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1275125"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:db07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of porphyrin and haem metabolism"; "Orphanet:309813" . _:db08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of porphyrin metabolism"; rdfs:comment "preferred label from MONDO" . _:db09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of porphyrin-containing compound metabolic process"; "MONDO:patterns/inborn_metabolic" . _:db2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of porphyrin-containing compound metabolic process"; "MONDO:patterns/inborn_metabolic" . _:db30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of porphyrin-containing compound metabolic process"; "MONDO:patterns/inborn_metabolic" . _:db31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309813" . a owl:Class; rdfs:subClassOf , ; "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome."; , ; "MONDO:0017755", "OMIM:614335", "UMLS:CN227200"; "disorder of bilirubin metabolism", "disorder of bilirubin metabolism and excretion", "hereditary bilirubin metabolism disease", "inborn disorder of bilirubin metabolism", "inborn disorder of bilirubin metabolism and excretion"; "bilirubin metabolism disorder"; "Orphanet:309816"; ; rdfs:label "Disorder of bilirubin metabolism and excretion" . _:db33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:db35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227200"; "MONDO:equivalentTo" . _:db36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of bilirubin metabolism"; "MONDO:0024289" . _:db37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary bilirubin metabolism disease"; "MONDO:patterns/hereditary" . _:db38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of bilirubin metabolism"; rdfs:comment "preferred label from MONDO" . _:db3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309816" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017756", "UMLS:CN227201"; "disorder of pterin metabolism"; "Orphanet:309819"; ; rdfs:label "Disorder of pterin metabolism", "Disorder of pterin metabolism"@en; "ORPHA:309819" . _:db41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227201"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:db44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of pterin metabolism"; rdfs:comment "preferred label from MONDO" . _:db45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309819" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017757", "UMLS:CN227202"; "disorder of metabolite absorption and transport"; "Orphanet:309824"; ; rdfs:label "Disorder of metabolite absorption and transport", "Disorder of metabolite absorption and transport"@en; "ORPHA:309824" . _:db46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227202"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:db49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of metabolite absorption and transport"; rdfs:comment "preferred label from MONDO" . _:db4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309824" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017758", "UMLS:CN227203"; "disorder of vitamin and non-protein cofactor absorption and transport"; "Orphanet:309827"; ; rdfs:label "Disorder of vitamin and non-protein cofactor absorption and transport " . _:db50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227203"; "MONDO:equivalentTo" . _:db51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vitamin and non-protein cofactor absorption and transport"; "Orphanet:309827" . _:db52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of vitamin and non-protein cofactor absorption and transport"; rdfs:comment "preferred label from MONDO" . _:db53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309827" . a owl:Class; rdfs:subClassOf ; , , ; "ICD9:270.8", "MONDO:0017759", "SCTID:237921002", "UMLS:C0342685"; "disorder of catecholamine synthesis"; "Orphanet:309830"; ; rdfs:label "Disorder of catecholamine synthesis", "Disorder of catecholamine synthesis"@en; "ORPHA:309830" . _:db55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:db56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237921002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:db57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342685"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:db58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342685"; "MONDO:equivalentTo", "ORDO:309830/e", "Orphanet:309830" . _:db5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of catecholamine synthesis"; rdfs:comment "preferred label from MONDO" . _:db5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309830" . a owl:Class; rdfs:subClassOf ; , ; "ICD-10:E83.0", "ICD-10:E83.1", "ICD-10:E83.2", "ICD-10:E83.3", "ICD-10:E83.4", "ICD-10:E83.5", "ICD-10:E83.8", "ICD-10:E83.9", "ICD10:E83.0", "ICD10:E83.1", "ICD10:E83.2", "ICD10:E83.3", "ICD10:E83.4", "ICD10:E83.5", "ICD10:E83.8", "ICD10:E83.9", "MONDO:0017761", "UMLS:CN227205"; "disorder of mineral absorption and transport"; "Orphanet:309836"; ; rdfs:label "Disorder of mineral absorption and transport", "Disorder of mineral absorption and transport"@en; "ORPHA:309836" . _:db65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.0"; "BTNT (broader term maps to a narrower term)"@en . _:db66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.0"; "Specific code (The term has its own code in the ICD10)"@en . _:db67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1"; "BTNT (broader term maps to a narrower term)"@en . _:db68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1"; "Specific code (The term has its own code in the ICD10)"@en . _:db6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.2"; "BTNT (broader term maps to a narrower term)"@en . _:db6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.2"; "Specific code (The term has its own code in the ICD10)"@en . _:db6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "BTNT (broader term maps to a narrower term)"@en . _:db6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "Specific code (The term has its own code in the ICD10)"@en . _:db70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "BTNT (broader term maps to a narrower term)"@en . _:db71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "Specific code (The term has its own code in the ICD10)"@en . _:db74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "BTNT (broader term maps to a narrower term)"@en . _:db75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "Specific code (The term has its own code in the ICD10)"@en . _:db76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.8"; "BTNT (broader term maps to a narrower term)"@en . _:db77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.8"; "Specific code (The term has its own code in the ICD10)"@en . _:db78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.9"; "BTNT (broader term maps to a narrower term)"@en . _:db79d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20448; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20448 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.9"; "Specific code (The term has its own code in the ICD10)"@en . _:db7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.0"; "ORDO:309836/btnt", "ORDO:309836/specific", "Orphanet:309836" . _:db7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.1"; "MONDO:relatedTo", "ORDO:309836/btnt", "ORDO:309836/specific", "Orphanet:309836" . _:db7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.2"; "ORDO:309836/btnt", "ORDO:309836/specific", "Orphanet:309836" . _:db86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.3"; "MONDO:relatedTo", "ORDO:309836/btnt", "ORDO:309836/specific", "Orphanet:309836" . _:db87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.4"; "ORDO:309836/btnt", "ORDO:309836/specific", "Orphanet:309836" . _:db88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.5"; "ORDO:309836/btnt", "ORDO:309836/specific", "Orphanet:309836" . _:db89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.8"; "ORDO:309836/btnt", "ORDO:309836/specific", "Orphanet:309836" . _:db8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.9"; "ORDO:309836/btnt", "ORDO:309836/specific", "Orphanet:309836" . _:db8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227205"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:db90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of mineral absorption and transport"; rdfs:comment "preferred label from MONDO" . _:db91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309836" . a owl:Class; rdfs:subClassOf ; "An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis."; , , , , ; "COHD:436672", "ICD10:E83.0", "ICD9:275.1", "MONDO:0017762", "MedDRA:10061091", "SCTID:79886009", "UMLS:C0012714", "UMLS:CN043585"; "disorder of copper metabolism", "inborn cellular copper ion homeostasis disorder", "inborn error of cellular copper ion homeostasis", "rare inborn error of cellular copper ion homeostasis"; "copper Transport disorders", "rare inborn error of cellular copper ion homeostasis"; "Orphanet:309839"; ; rdfs:label "Disorder of copper metabolism" . _:db94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis."; "MONDO:patterns/inborn_metabolic" . _:db97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:436672"; "MONDO:equivalentTo" . _:db98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.0"; "ORDO:309839/e", "ORDO:309839/specific", "Orphanet:309839" . _:db9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.1"; "MONDO:equivalentTo", "i2s" . _:db9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061091"; "ORDO:309839/e", "Orphanet:309839" . _:db9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:79886009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:dba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0012714"; "MONDO:equivalentTo", "ORDO:309839/e", "Orphanet:309839" . _:dba1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN043585"; "MONDO:equivalentTo" . _:dba2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of copper metabolism"; rdfs:comment "preferred label from MONDO" . _:dba3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of cellular copper ion homeostasis"; "MONDO:patterns/inborn_metabolic" . _:dba4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of cellular copper ion homeostasis"; "MONDO:patterns/inborn_metabolic" . _:dba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "copper Transport disorders"; "GTR:AN0119091" . _:dba6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of cellular copper ion homeostasis"; "MONDO:patterns/inborn_metabolic" . _:dba7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309839" . a owl:Class; rdfs:subClassOf ; , ; "ICD-10:E83.1", "ICD10:E83.1", "MONDO:0017763", "UMLS:CN227206"; "disorder of iron metabolism and transport"; "Orphanet:309842"; ; rdfs:label "Disorder of iron metabolism and transport", "Disorder of iron metabolism and transport"@en; "ORPHA:309842" . _:dba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dbacd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20476; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20476 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1"; "Specific code (The term has its own code in the ICD10)"@en . _:dbafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.1"; "MONDO:relatedTo", "ORDO:309842/e", "ORDO:309842/specific", "Orphanet:309842" . _:dbb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227206"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:dbb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of iron metabolism and transport"; rdfs:comment "preferred label from MONDO" . _:dbb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309842" . a owl:Class; rdfs:subClassOf ; "An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport."; , ; "ICD-10:E83.4", "ICD10:E83.4", "MONDO:0017765", "UMLS:CN227207"; "disorder of magnesium transport", "inborn error of magnesium ion transport", "inborn magnesium ion transport disorder", "rare inborn error of magnesium ion transport"; "rare inborn error of magnesium ion transport"; "Orphanet:309848"; ; rdfs:label "Disorder of magnesium transport", "Disorder of magnesium transport"@en; "ORPHA:309848" . _:dbb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport."; "MONDO:patterns/inborn_metabolic" . _:dbb5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20483; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20483 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "Attributed"@en . _:dbb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "NTBT (narrower term maps to a broader term)"@en . _:dbbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.4"; "ORDO:309848/attributed", "ORDO:309848/ntbt", "Orphanet:309848" . _:dbbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227207"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:dbbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of magnesium transport"; rdfs:comment "preferred label from MONDO" . _:dbc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of magnesium ion transport"; "MONDO:patterns/inborn_metabolic" . _:dbc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of magnesium ion transport"; "MONDO:patterns/inborn_metabolic" . _:dbc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of magnesium ion transport"; "MONDO:patterns/inborn_metabolic" . _:dbc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:309848" . a owl:Class; rdfs:subClassOf , ; "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure."; "FHHNC without severe ocular involvement"@en, "HOMG3"@en, "Renal hypomagnesemia type 3"@en; "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure."@en; "orphanet", "orphanet"@en; "ICD-10:E83.4", "OMIM:248250"; "FHHNC without severe ocular involvement", "HOMG3", "Renal hypomagnesemia type 3"; rdfs:label "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement", "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"@en; "ORPHA:31043" . _:dbcad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20493; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20493 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "Attributed"@en . _:dbd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "NTBT (narrower term maps to a broader term)"@en . _:dbd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:248250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms).", "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations."; ; , , ; "MRKH syndrome"@en, "Rokitansky syndrome"@en; "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms)."@en; "orphanet", "orphanet"@en; "ICD-10:Q51.8", "ICD10:Q51.8", "MONDO:0017771", "MedDRA:10065148", "NCIT:C124853", "OMIM:158330", "OMIM:277000", "OMIM:601076", "UMLS:C1698581"; "MRKH", "MRKH syndrome", "Mayer-Rokitansky-Kuster-Hauser syndrome", "Mullerian aplasia/dysgenesis", "Rokitansky syndrome"; "Mayer-Rokitansky-Küster-Hauser syndrome"; "Orphanet:3109"; ; rdfs:label "Mayer-Rokitansky-Küster-Hauser syndrome", "Mayer-Rokitansky-Küster-Hauser syndrome"@en; "ORPHA:3109" . _:dbdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms)."; "Orphanet:3109" . _:dbddd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20498; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20498 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q51.8"; "Attributed"@en . _:dbe0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q51.8"; "NTBT (narrower term maps to a broader term)"@en . _:dbe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q51.8"; "ORDO:3109/attributed", "ORDO:3109/ntbt", "Orphanet:3109" . _:dbe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065148"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dbe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065148"; "ORDO:3109/e", "Orphanet:3109" . _:dbe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C124853"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.66/1.22" . _:dbe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277000"; "BTNT (broader term maps to a narrower term)"@en . _:dbebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601076"; "BTNT (broader term maps to a narrower term)"@en . _:dbefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1698581"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dbf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRKH"; "NCIT:C124853" . _:dbf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRKH syndrome"; "Orphanet:3109" . _:dbf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayer-Rokitansky-Kuster-Hauser syndrome"; rdfs:comment "preferred label from MONDO" . _:dbf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mullerian aplasia/dysgenesis"; "NCIT:C124853" . _:dbf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rokitansky syndrome"; "Orphanet:3109" . _:dbf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayer-Rokitansky-Küster-Hauser syndrome"; "Orphanet:3109" . _:dbf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3109" . a owl:Class; rdfs:subClassOf ; "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood."; , , , , , ; "ICD10:E78.6", "MESH:D052456", "MONDO:0017773", "MSH:D052456", "MedDRA:10065156", "NCIT:C84774", "SCTID:190785000", "UMLS:C0473527"; "hypoalphalipoproteinemia"; "Orphanet:31153"; ; rdfs:label "Hypoalphalipoproteinemia" . _:dbf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood."; "NCIT:C84774" . _:dbf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E78.6"; "ORDO:31153/attributed", "ORDO:31153/ntbt", "Orphanet:31153" . _:dbf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D052456"; "MONDO:equivalentTo", "ORDO:31153/e", "Orphanet:31153" . _:dbfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065156"; "ORDO:31153/e", "Orphanet:31153" . _:dbfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84774"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:dbfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190785000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:dbfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0473527"; "MONDO:equivalentTo", "NCIT:C84774", "ORDO:31153/e", "Orphanet:31153" . _:dbfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoalphalipoproteinemia"; rdfs:comment "preferred label from MONDO" . _:dbffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:31153" . a owl:Class; rdfs:subClassOf , , ; "Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma."; , , , ; "Classic lamellar ichthyosis"@en, "Congenital lamellar ichthyosis"@en, "LI"@en; "Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma."@en; "orphanet", "orphanet"@en; "GARD:0010803", "ICD-10:Q80.2", "ICD10:Q80.2", "MESH:D017490", "MONDO:0017778", "MSH:D017490", "MeSH:D017490", "MedDRA:10023686", "NCIT:C84805", "OMIM:146750", "OMIM:242300", "OMIM:601277", "OMIM:604777", "OMIM:606545", "OMIM:612281", "OMIM:613943", "OMIM:617571", "OMIM:617574"; "Classic lamellar ichthyosis", "Congenital lamellar ichthyosis", "LI", "classic lamellar ichthyosis", "congenital lamellar ichthyosis", "lamellar ichthyosis"; "Orphanet:313"; ; rdfs:label "Lamellar ichthyosis", "Lamellar ichthyosis"@en; "ORPHA:313" . _:dc11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma."; "Orphanet:313" . _:dc12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010803"; "MONDO:equivalentTo" . _:dc13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dc15d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20527; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20527 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.2"; "Specific code (The term has its own code in the ICD10)"@en . _:dc17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q80.2"; "ORDO:313/e", "ORDO:313/specific", "Orphanet:313" . _:dc19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017490"; "MONDO:equivalentTo", "ORDO:313/e", "Orphanet:313" . _:dc1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017490"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dc1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10023686"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dc1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10023686"; "ORDO:313/e", "Orphanet:313" . _:dc1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84805"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.86/0.11" . _:dc1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146750"; "W (incorrect mapping (two different concepts)"@en . _:dc20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242300"; "NTBT (narrower term maps to a broader term)"@en . _:dc21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601277"; "BTNT (broader term maps to a narrower term)"@en . _:dc22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604777"; "BTNT (broader term maps to a narrower term)"@en . _:dc25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606545"; "BTNT (broader term maps to a narrower term)"@en . _:dc27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612281"; "BTNT (broader term maps to a narrower term)"@en . _:dc37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613943"; "BTNT (broader term maps to a narrower term)"@en . _:dc38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617571"; "BTNT (broader term maps to a narrower term)"@en . _:dc39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617571"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:dc3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617574"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:dc3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LI"; "Orphanet:313" . _:dc3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic lamellar ichthyosis"; "Orphanet:313" . _:dc3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lamellar ichthyosis"; "Orphanet:313" . _:dc41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lamellar ichthyosis"; rdfs:comment "preferred label from MONDO" . _:dc43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:313" . a owl:Class; rdfs:subClassOf , , , , ; , , ; "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported."@en; "orphanet"@en; "MONDO:0013806", "OMIM:614564", "UMLS:C3281203"; "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"; "FCTCS", "cutaneous telangiectasia and cancer syndrome, familial", "cutaneous telangiectasia and cancer syndrome, familial; FCTCS", "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome", "telangiectasia, cutaneous, and cancer syndrome, familial"; "Orphanet:313846"; ; rdfs:label "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"@en, "Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"; "ORPHA:313846" . _:dc47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614564"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dc4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614564"; "MONDO:equivalentTo", "ORDO:313846/e", "Orphanet:313846" . _:dc4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3281203"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614564" . _:dc4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"; rdfs:comment "preferred label from MONDO" . _:dc4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FCTCS"; "MONDO:Lexical", "OMIM:614564" . _:dc52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous telangiectasia and cancer syndrome, familial"; "MONDO:Lexical", "OMIM:614564" . _:dc54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutaneous telangiectasia and cancer syndrome, familial; FCTCS"; "OMIM:614564" . _:dc55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"; "Orphanet:313846" . _:dc58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "telangiectasia, cutaneous, and cancer syndrome, familial"; "OMIM:614564" . _:dc59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:313846" . a owl:Class; rdfs:subClassOf ; "Familial fundic gland polyposis with gastric cancer"@en, "GAPPS"@en; "Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis."@en; "orphanet"@en; rdfs:label "Gastric adenocarcinoma and proximal polyposis of the stomach"@en; "ORPHA:314022" . a owl:Class; rdfs:subClassOf ; "APS type 2"@en, "APS2"@en, "Autoimmune polyendocrine syndrome type 2"@en, "Autoimmune polyglandular syndrome type 2"@en, "Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome"@en, "Schmidt syndrome"@en; "Autoimmune polyendocrinopathy type 2 is a rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present."@en; "orphanet"@en; "ICD-10:E31.0", "OMIM:269200", "UMLS:C0085860"; rdfs:label "Autoimmune polyendocrinopathy type 2"@en; "ORPHA:3143" . _:dc66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dc68d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20561; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20561 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.0"; "Specific code (The term has its own code in the ICD10)"@en . _:dc69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:269200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dc6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085860"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent."@en; "orphanet"@en; "ICD-10:K43.6"; rdfs:label "Spigelian hernia-cryptorchidism syndrome"@en; "ORPHA:314432" . _:dc6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K43.6"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , , , , , ; "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly."; , ; "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly."@en; "orphanet"@en; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0017806", "OMIM:614846", "UMLS:CN203769"; "15q overgrowth syndrome"; "Orphanet:314585"; ; rdfs:label "15q overgrowth syndrome", "15q overgrowth syndrome"@en; "ORPHA:314585" . _:dc74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly."; "Orphanet:314585" . _:dc75d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20567; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20567 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:dc76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:dc77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:314585/attributed", "ORDO:314585/ntbt", "Orphanet:314585" . _:dc79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614846"; "BTNT (broader term maps to a narrower term)"@en . _:dc7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203769"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:dc7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "15q overgrowth syndrome"; rdfs:comment "preferred label from MONDO" . _:dc7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:314585" . a owl:Class; rdfs:subClassOf , ; , ; "A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated."@en; "orphanet"@en; "MONDO:0017812", "UMLS:CN203781"; "segmental progressive overgrowth syndrome with fibroadipose hyperplasia"; "Orphanet:314662"; ; rdfs:label "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia", "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"@en; "ORPHA:314662" . _:dc81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203781"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:dc83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "segmental progressive overgrowth syndrome with fibroadipose hyperplasia"; rdfs:comment "preferred label from MONDO" . _:dc86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:314662" . a owl:Class; rdfs:subClassOf , ; "Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)."; , , ; "CID due to STK4 deficiency"@en; "Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)."@en; "orphanet"@en; "ICD-10:D81.8", "ICD10:D81.8", "MONDO:0013934", "OMIM:614868", "UMLS:C3553943"; "CID due to STK4 deficiency", "Cid due to STK4 deficiency", "combined immunodeficiency due to STK4 deficiency"; "Mst1 deficiency", "STK4 deficiency", "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations", "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations; TIIAC", "TIIAC"; "Orphanet:314689"; ; rdfs:label "Combined immunodeficiency due to STK4 deficiency", "Combined immunodeficiency due to STK4 deficiency"@en; "ORPHA:314689" . _:dc8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)."; "Orphanet:314689" . _:dc8fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20579; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20579 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:dc93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:dc95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:314689/attributed", "ORDO:314689/ntbt", "Orphanet:314689" . _:dc97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614868"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dc98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614868"; "MONDO:equivalentTo", "ORDO:314689/e", "Orphanet:314689" . _:dc9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3553943"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614868" . _:dc9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cid due to STK4 deficiency"; "Orphanet:314689" . _:dca0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to STK4 deficiency"; rdfs:comment "preferred label from MONDO" . _:dca3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mst1 deficiency"; "OMIM:614868" . _:dca5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STK4 deficiency"; "OMIM:614868" . _:dca6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations"; "MONDO:Lexical", "OMIM:614868" . _:dca8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations; TIIAC"; "OMIM:614868" . _:dcabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TIIAC"; "MONDO:Lexical", "OMIM:614868" . _:dcaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:314689" . a owl:Class; rdfs:subClassOf ; "Endocrine active pituitary adenoma"@en, "Secreting pituitary adenoma"@en; "UMLS:C0854486"; rdfs:label "Functioning pituitary adenoma"@en; "ORPHA:314753" . _:dcb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0854486"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Mixed secreting pituitary adenoma"@en; "UMLS:C0346305"; rdfs:label "Mixed functioning pituitary adenoma"@en; "ORPHA:314759" . _:dcb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0346305"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "GH and PRL cosecreting pituitary adenoma"@en, "Growth hormone and prolactin cosecreting pituitary adenoma"@en, "Somatolactotropinoma"@en, "Somatoprolactinoma"@en; "Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia."@en; "orphanet"@en; "ICD-10:D35.2"; rdfs:label "Somatomammotropinoma"@en; "ORPHA:314769" . _:dcb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "FIPA"@en; "A rare, genetic endocrine tumor characterized by variable clinical manifestations, resulting from the tumor size, excess hormone secretion or lack of hormone secretion. Tumor can be growth hormone-secreting, prolactin-secreting, growth hormone and prolactin co-secreting, and non-functioning pituitary adenomas. In rare cases, adenomas secrete TSH or ACTH. Within the same family, both same or different type of pituitary adenoma scan be present."@en; "orphanet"@en; "ICD-10:D35.2", "OMIM:102200", "OMIM:600634", "UMLS:C1863340"; rdfs:label "Familial isolated pituitary adenoma"@en; "ORPHA:314777" . _:dcb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . _:dcb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102200"; "NTBT (narrower term maps to a broader term)"@en . _:dcb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600634"; "BTNT (broader term maps to a narrower term)"@en . _:dcb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1863340"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:D35.2"; rdfs:label "Silent pituitary adenoma"@en; "ORPHA:314786" . _:dcbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:D35.2"; rdfs:label "Null pituitary adenoma"@en; "ORPHA:314790" . _:dcbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; ; "ICD10:N25.8", "MONDO:0017828"; "primary renal tubular acidosis"; "Orphanet:314822"; ; rdfs:label "Primary renal tubular acidosis" . _:dcc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25.8"; "ORDO:314822/attributed", "ORDO:314822/ntbt", "Orphanet:314822" . _:dcc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary renal tubular acidosis"; rdfs:comment "preferred label from MONDO" . _:dcc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:314822" . a owl:Class; rdfs:subClassOf ; rdfs:label "Autoimmune disease with skin involvement"@en; "ORPHA:315350" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy."; ; , , , ; "Nephronophthisis with retinal dystrophy"@en, "Renal dysplasia-retinal aplasia syndrome"@en, "SLSN"@en; "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy."@en; "orphanet", "orphanet"@en; "DOID:0050576", "GARD:0000322", "ICD-10:Q61.5", "ICD10:Q61.5", "MESH:C537580", "MONDO:0017842", "MSH:C537580", "MeSH:C537580", "OMIM:266900", "OMIM:606995", "OMIM:606996", "OMIM:609254", "OMIM:610189", "OMIM:613615", "OMIM:614845", "OMIM:616307", "OMIM:616629", "OMIMPS:266900", "UMLS:C0403553", "UMLS:CN117960"; "Loken Senior syndrome", "Nephronophthisis with retinal dystrophy", "Renal dysplasia - retinal aplasia", "SLSN", "Senior-Loken syndrome", "nephronophthisis with retinal dystrophy", "renal dysplasia-retinal aplasia syndrome", "renal-retinal syndrome"; "Senior Loken syndrome", "renal dysplasia retinal aplasia"; "Orphanet:3156"; ; rdfs:label "Senior-Loken syndrome", "Senior-Loken syndrome"@en; "ORPHA:3156" . _:dcd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy."; "Orphanet:3156" . _:dcd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050576"; "MONDO:equivalentTo" . _:dcd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000322"; "MONDO:equivalentTo", "Orphanet-shared" . _:dcd9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20609; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20609 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "Attributed"@en . _:dcdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "NTBT (narrower term maps to a broader term)"@en . _:dcdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.5"; "DOID:0050576", "ORDO:3156/attributed", "ORDO:3156/ntbt", "Orphanet:3156" . _:dcddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537580"; "MONDO:equivalentTo", "ORDO:3156/e", "Orphanet:3156" . _:dcded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537580"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dce4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:266900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606995"; "BTNT (broader term maps to a narrower term)"@en . _:dce8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606996"; "BTNT (broader term maps to a narrower term)"@en . _:dce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609254"; "BTNT (broader term maps to a narrower term)"@en . _:dcead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610189"; "BTNT (broader term maps to a narrower term)"@en . _:dcedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613615"; "BTNT (broader term maps to a narrower term)"@en . _:dcefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614845"; "BTNT (broader term maps to a narrower term)"@en . _:dcf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616307"; "BTNT (broader term maps to a narrower term)"@en . _:dcf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616307"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:dcf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616629"; "BTNT (broader term maps to a narrower term)"@en . _:dcf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:266900"; "MONDO:cjm", "MONDO:equivalentTo" . _:dcf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0403553"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dcf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN117960"; "MONDO:equivalentTo" . _:dcf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Loken Senior syndrome"; "DOID:0050576" . _:dcf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLSN"; "Orphanet:3156" . _:dcf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Senior-Loken syndrome"; rdfs:comment "preferred label from MONDO" . _:dcfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephronophthisis with retinal dystrophy"; "Orphanet:3156" . _:dcfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal dysplasia-retinal aplasia syndrome"; "Orphanet:3156" . _:dcfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal-retinal syndrome"; "DOID:0050576" . _:dcfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Senior Loken syndrome"; "GARD:0000322" . _:dcfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal dysplasia retinal aplasia"; "GARD:0000322" . _:dcffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3156" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects."; ; , , , , , , , ; "De Morsier syndrome"@en, "SOD"@en, "Septo-optic dysplasia"@en; "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects."@en; "orphanet", "orphanet"@en; "DOID:0060857", "GARD:0007627", "ICD-10:Q04.4", "ICD10:Q04.8", "MESH:D025962", "MONDO:0008428", "MSH:D025962", "MeSH:D025962", "MedDRA:10067159", "NCIT:C85063", "OMIM:182230", "SCTID:7611002", "UMLS:C0162809", "UMLS:C0338503"; "De Morsier syndrome", "SOD", "Septo-optic dysplasia spectrum", "septo-optic dysplasia", "septo-optic dysplasia sequence", "septooptic dysplasia"; "Growth hormone deficiency with pituitary anomalies", "hypopituitarism and septooptic 'dysplasia'", "pituitary hormone deficiency, combined, 5", "septo-optic dysplasia spectrum", "septo-optic dysplasia with growth hormone deficiency"; "Orphanet:3157"; ; rdfs:label "Septo-optic dysplasia", "Septo-optic dysplasia spectrum"@en; "ORPHA:3157" . _:dd04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects."; "Orphanet:3157" . _:dd05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060857"; "MONDO:equivalentTo" . _:dd09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007627"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:dd0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd0bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20641; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20641 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.4"; "Specific code (The term has its own code in the ICD10)"@en . _:dd0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.8"; "DOID:0060857", "ORDO:3157/attributed", "ORDO:3157/ntbt", "Orphanet:3157" . _:dd10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D025962"; "DOID:0060857", "MONDO:equivalentTo", "ORDO:3157/e", "Orphanet:3157" . _:dd13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D025962"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067159"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067159"; "ORDO:3157/e", "Orphanet:3157" . _:dd1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85063"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/25.80" . _:dd1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:182230"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:182230"; "DOID:0060857", "MONDO:equivalentTo", "ORDO:3157/e", "Orphanet:3157" . _:dd20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:7611002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.59" . _:dd25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162809"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0338503"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0338503"; "DOID:0060857", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85063", "OMIM:182230", "ORDO:3157/e", "Orphanet:3157" . _:dd2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "De Morsier syndrome"; "DOID:0060857", "OMIM:182230", "Orphanet:3157" . _:dd2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOD"; "DOID:0060857", "Orphanet:3157" . _:dd31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "septo-optic dysplasia"; "DOID:0060857", "Orphanet:3157" . _:dd33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "septo-optic dysplasia sequence"; "NCIT:C85063" . _:dd34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "septooptic dysplasia"; "OMIM:182230" . _:dd35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "septooptic dysplasia"; rdfs:comment "preferred label from MONDO" . _:dd37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth hormone deficiency with pituitary anomalies"; "OMIM:182230" . _:dd39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypopituitarism and septooptic 'dysplasia'"; "GARD:0007627" . _:dd3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary hormone deficiency, combined, 5"; "OMIM:182230" . _:dd3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "septo-optic dysplasia spectrum"; "Orphanet:3157" . _:dd3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "septo-optic dysplasia with growth hormone deficiency"; "GARD:0007627" . _:dd3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3157" . a owl:Class; rdfs:subClassOf ; "Congenital bronchopulmonary sequestration"@en; "Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants."@en; "orphanet"@en; "ICD-10:Q33.2"; rdfs:label "Congenital pulmonary sequestration"@en; "ORPHA:3161" . _:dd43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q33.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Sézary lymphoma"@en; "Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells)."@en; "orphanet"@en; "ICD-10:C84.1", "MeSH:D012751", "MedDRA:10040493", "UMLS:C0036920"; rdfs:label "Sézary syndrome"@en; "ORPHA:3162" . _:dd61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C84.1"; "NTBT (narrower term maps to a broader term)"@en . _:dd62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012751"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10040493"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036920"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990."; , ; "Tsao-Ellingson syndrome"@en; "Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990."@en; "orphanet"@en; "GARD:0003002", "ICD-10:G40.4", "ICD10:G40.4", "MONDO:0017852", "UMLS:CN203849"; "Tsao-Ellingson syndrome", "infantile spasms-broad thumbs syndrome"; "Tsao Ellingson syndrome", "infantile spasms broad thumbs"; "Orphanet:3173"; , ; rdfs:label "Infantile spasms - broad thumbs", "Infantile spasms-broad thumbs syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs"^^xsd:anyURI; "ORPHA:3173" . _:dd6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990."; "Orphanet:3173" . _:dd6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003002"; "MONDO:equivalentTo" . _:dd71d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20674; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20674 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "Attributed"@en . _:dd73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "NTBT (narrower term maps to a broader term)"@en . _:dd75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.4"; "ORDO:3173/attributed", "ORDO:3173/ntbt", "Orphanet:3173" . _:dd77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203849"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:dd79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tsao-Ellingson syndrome"; "Orphanet:3173" . _:dd7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile spasms-broad thumbs syndrome"; rdfs:comment "preferred label from MONDO" . _:dd7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tsao Ellingson syndrome"; "GARD:0003002" . _:dd81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile spasms broad thumbs"; "GARD:0003002" . _:dd83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3173" . _:dd85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs"^^xsd:anyURI; "GARD:0003002" . a owl:Class; rdfs:subClassOf , ; "Extrinsic allergic alveolitis"@en, "HP"@en; "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized."@en; "orphanet"@en; "ICD-10:J67.0", "ICD-10:J67.1", "ICD-10:J67.2", "ICD-10:J67.3", "ICD-10:J67.4", "ICD-10:J67.5", "ICD-10:J67.6", "ICD-10:J67.7", "ICD-10:J67.8", "ICD-10:J67.9", "MeSH:D000542", "MedDRA:10001890", "UMLS:C0002390"; rdfs:label "Hypersensitivity pneumonitis"@en; "ORPHA:31740" . _:dd86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.0"; "BTNT (broader term maps to a narrower term)"@en . _:dd87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.1"; "BTNT (broader term maps to a narrower term)"@en . _:dd88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.2"; "BTNT (broader term maps to a narrower term)"@en . _:dd89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.3"; "BTNT (broader term maps to a narrower term)"@en . _:dd8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.4"; "BTNT (broader term maps to a narrower term)"@en . _:dd8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.5"; "BTNT (broader term maps to a narrower term)"@en . _:dd8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.6"; "BTNT (broader term maps to a narrower term)"@en . _:dd8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.7"; "BTNT (broader term maps to a narrower term)"@en . _:dd90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.8"; "BTNT (broader term maps to a narrower term)"@en . _:dd91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J67.9"; "BTNT (broader term maps to a narrower term)"@en . _:dd93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000542"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001890"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002390"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive."; ; "T-B+ SCID"@en; "T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive."@en; "orphanet", "orphanet"@en; "ICD-10:D81.2", "ICD10:D81.2", "MONDO:0044200"; "T-B+ SCID", "T-B+ severe combined immunodeficiency", "T-cell negative B-cell positive SCID"; "Orphanet:317416"; ; rdfs:label "T-B+ severe combined immunodeficiency", "T-B+ severe combined immunodeficiency"@en; "ORPHA:317416" . _:dd9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive."; "Orphanet:317416" . _:dd9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dd9fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20700; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20700 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Specific code (The term has its own code in the ICD10)"@en . _:dda1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "Orphanet:317416" . _:dda3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ SCID"; "Orphanet:317416" . _:dda5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ severe combined immunodeficiency"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types."; ; "T-B- SCID"@en; "T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types."@en; "orphanet", "orphanet"@en; "ICD-10:D81.1", "ICD10:D81.1", "MONDO:0017855"; "T-B- SCID", "T-B- severe combined immunodeficiency"; "Orphanet:317419"; ; rdfs:label "T-B- severe combined immunodeficiency", "T-B- severe combined immunodeficiency"@en; "ORPHA:317419" . _:ddaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types."; "Orphanet:317419" . _:ddacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ddaed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20707; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20707 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "Specific code (The term has its own code in the ICD10)"@en . _:ddb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.1"; "ORDO:317419/e", "ORDO:317419/specific", "Orphanet:317419" . _:ddb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B- SCID"; "Orphanet:317419" . _:ddb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B- severe combined immunodeficiency"; rdfs:comment "preferred label from MONDO" . _:ddb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:317419" . a owl:Class; rdfs:subClassOf , ; "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation."; , , , ; "SCID due to DNA-PKcs deficiency"@en; "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation."@en; "orphanet", "orphanet"@en; "ICD-10:D81.1", "ICD10:D81.1", "MONDO:0014423", "OMIM:615966", "SCTID:716871006", "UMLS:C4014833"; "SCID due to DNA-PKcs deficiency", "severe combined immunodeficiency due to DNA-PKcs deficiency"; "IMD26", "immunodeficiency 26 with or without neurologic abnormalities", "immunodeficiency 26 with or without neurologic abnormalities; IMD26"; "Orphanet:317425"; ; rdfs:label "Severe combined immunodeficiency due to DNA-PKcs deficiency", "Severe combined immunodeficiency due to DNA-PKcs deficiency"@en; "ORPHA:317425" . _:ddbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation."; "Orphanet:317425" . _:ddbcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20714; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20714 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "Attributed"@en . _:ddbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "NTBT (narrower term maps to a broader term)"@en . _:ddc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.1"; "ORDO:317425/attributed", "ORDO:317425/ntbt", "Orphanet:317425" . _:ddc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615966"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ddc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615966"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ddc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615966"; "MONDO:equivalentTo", "ORDO:317425/e", "Orphanet:317425" . _:ddc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716871006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/11.85" . _:ddccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4014833"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:ddcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to DNA-PKcs deficiency"; "Orphanet:317425" . _:ddd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to DNA-PKcs deficiency"; rdfs:comment "preferred label from MONDO" . _:ddd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD26"; "MONDO:Lexical", "OMIM:615966" . _:ddd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 26 with or without neurologic abnormalities"; "MONDO:Lexical", "OMIM:615966" . _:ddd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 26 with or without neurologic abnormalities; IMD26"; "OMIM:615966" . _:ddd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:317425" . a owl:Class; rdfs:subClassOf , ; " deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.", "deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis."; , , , ; "CID due to ORAI1 deficiency"@en; "Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis."@en; "orphanet", "orphanet"@en; "GARD:0010524", "ICD-10:D81.8", "ICD10:D81.8", "MESH:C557826", "MONDO:0013007", "OMIM:612782", "UMLS:C2748568"; "CID due to ORAI1 deficiency", "Cid due to ORAI1 deficiency", "combined immunodeficiency due to ORAI1 deficiency", "immunodeficiency type 9"; "IMD9", "immune dysfunction with T-cell inactivation due to calcium entry defect 1", "immunodeficiency 9", "immunodeficiency 9; IMD9"; "Orphanet:317428"; ; rdfs:label "Combined immunodeficiency due to ORAI1 deficiency", "Combined immunodeficiency due to ORAI1 deficiency"@en; "ORPHA:317428" . _:dde0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis."; "Orphanet:317428" . _:dde1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010524"; "MONDO:equivalentTo", "OMIM-shared" . _:dde2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20731; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20731 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:dde3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:dde4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:317428/attributed", "ORDO:317428/ntbt", "Orphanet:317428" . _:dde5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C557826"; "MONDO:equivalentTo", "MONDO:ontobio" . _:dde6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612782"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dde7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612782"; "MONDO:equivalentTo", "ORDO:317428/e", "Orphanet:317428" . _:dde8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2748568"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:612782" . _:ddead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cid due to ORAI1 deficiency"; "Orphanet:317428" . _:ddecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to ORAI1 deficiency"; rdfs:comment "preferred label from MONDO" . _:ddedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 9"; "MONDORULE:1", "OMIM:612782" . _:ddefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD9"; "MONDO:Lexical", "OMIM:612782" . _:ddf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune dysfunction with T-cell inactivation due to calcium entry defect 1"; "OMIM:612782" . _:ddf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 9"; "MONDO:Lexical", "OMIM:612782" . _:ddf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 9; IMD9"; "OMIM:612782" . _:ddf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:317428" . a owl:Class; rdfs:subClassOf , ; " deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.", "deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia."; , , , ; "CID due to STIM1 deficiency"@en; "Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia."@en; "orphanet", "orphanet"@en; "GARD:0010523", "ICD-10:D81.8", "ICD10:D81.8", "MESH:C557827", "MONDO:0013008", "OMIM:612783", "UMLS:C2748557"; "CID due to STIM1 deficiency", "Cid due to STIM1 deficiency", "combined immunodeficiency due to STIM1 deficiency", "immunodeficiency type 10"; "IMD10", "STIM1 deficiency", "immune dysfunction with T-cell inactivation due to calcium entry defect 2", "immunodeficiency 10", "immunodeficiency 10; IMD10"; "Orphanet:317430"; ; rdfs:label "Combined immunodeficiency due to STIM1 deficiency", "Combined immunodeficiency due to STIM1 deficiency"@en; "ORPHA:317430" . _:ddfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia."; "Orphanet:317430" . _:de02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010523"; "MONDO:equivalentTo", "OMIM-shared" . _:de04d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20749; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20749 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:de05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:de06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:317430/attributed", "ORDO:317430/ntbt", "Orphanet:317430" . _:de07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C557827"; "MONDO:equivalentTo", "MONDO:ontobio" . _:de0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612783"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:de0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612783"; "MONDO:equivalentTo", "ORDO:317430/e", "Orphanet:317430" . _:de0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2748557"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:612783" . _:de10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cid due to STIM1 deficiency"; "Orphanet:317430" . _:de12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to STIM1 deficiency"; rdfs:comment "preferred label from MONDO" . _:de15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 10"; "MONDORULE:2", "OMIM:612783" . _:de18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD10"; "MONDO:Lexical", "OMIM:612783" . _:de19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STIM1 deficiency"; "OMIM:612783" . _:de1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune dysfunction with T-cell inactivation due to calcium entry defect 2"; "OMIM:612783" . _:de1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 10"; "MONDO:Lexical", "OMIM:612783" . _:de20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 10; IMD10"; "OMIM:612783" . _:de21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:317430" . a owl:Class; rdfs:subClassOf ; "AML M6"@en, "Acute myeloid leukemia M6"@en, "Erythroleukemia"@en; "ICD-10:C94.0", "OMIM:133180", "UMLS:C0023440"; rdfs:label "Acute erythroid leukemia"@en; "ORPHA:318" . _:de23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C94.0"; "NTBT (narrower term maps to a broader term)"@en . _:de25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:133180"; "BTNT (broader term maps to a narrower term)"@en . _:de28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023440"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days."@en; "orphanet"@en; "ICD-10:T50.4"; rdfs:label "Colchicine poisoning"@en; "ORPHA:31824" . _:de2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T50.4"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)."@en; "orphanet"@en; "ICD-10:T51.1"; rdfs:label "Methanol poisoning"@en; "ORPHA:31825" . _:de2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T51.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure."@en; "orphanet"@en; "ICD-10:T52.8", "UMLS:C0413194"; rdfs:label "Ethylene glycol poisoning"@en; "ORPHA:31826" . _:de30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T52.8"; "NTBT (narrower term maps to a broader term)"@en . _:de31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0413194"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported."@en; "orphanet"@en; "ICD-10:T60.3"; rdfs:label "Paraquat poisoning"@en; "ORPHA:31827" . _:de32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T60.3"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances."@en; "orphanet"@en; "ICD-10:T46.0"; rdfs:label "Digitalis poisoning"@en; "ORPHA:31828" . _:de33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T46.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.", "Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both.", "Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction."; "Sirarat Sarntivijai"; , , , , , , ; "orphanet"; "DOID:5453", "GARD:0010153", "ICD9:416.8", "MESH:D011668", "MONDO:0009937", "MSH:D011668", "MeSH:D011668", "MedDRA:10037458", "NCIT:C85039", "OMIM:265450", "OMIMPS:265450", "SCTID:89420002", "UMLS:C0034091"; "PVOD", "Pulmonary Veno-Occlusive Disease", "pulmonary veno-occlusive disease", "pulmonary veno-occlusive disease (disorder)", "pulmonary venoocclusive disease"; "obstructive disease of the pulmonary veins"; "Orphanet:31837"; , , ; rdfs:label "Pulmonary venoocclusive disease", "Pulmonary venoocclusive disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease"^^xsd:anyURI; "ORPHA:31837" . _:de38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension."; "NCIT:P378" . _:de3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:de40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:de41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5453"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:de45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5453"; "MONDO:equivalentTo" . _:de47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010153"; "MONDO:equivalentTo" . _:de49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:416.8"; "MONDO:relatedTo", "i2s" . _:de4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011668"; "DOID:5453", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:31837/e", "Orphanet:31837" . _:de4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D011668"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:de50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011668"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:de51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037458"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:de54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037458"; "ORDO:31837/e", "Orphanet:31837" . _:de57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85039"; "DOID:5453", "MONDO:equivalentTo" . _:de59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:265450"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:de5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:265450"; "MONDO:cjm", "MONDO:equivalentTo" . _:de5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:89420002"; "DOID:5453", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:de5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0034091"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:de60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0034091"; "DOID:5453", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:265450", "ORDO:31837/e", "Orphanet:31837" . _:de63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PVOD"; "OMIM:265450" . _:de64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pulmonary Veno-Occlusive Disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:de66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary veno-occlusive disease"; "DOID:5453" . _:de68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary veno-occlusive disease (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:de6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary venoocclusive disease"; rdfs:comment "preferred label from MONDO" . _:de6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obstructive disease of the pulmonary veins"; "GARD:0010153" . _:de6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010153" . _:de72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:31837" . _:de75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease"^^xsd:anyURI; "GARD:0010153" . a owl:Class; rdfs:subClassOf , , , , , ; "Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder."; , , , , ; "Steinfeld syndrome"@en; "Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder."@en; "orphanet"@en; "GARD:0002727", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:C566655", "MONDO:0008488", "OMIM:184705", "SCTID:716233007", "UMLS:C1866649"; "Steinfeld syndrome", "holoprosencephaly-radial heart renal anomalies syndrome"; "STEINFELD syndrome", "holoprosencephaly radial heart renal anomalies"; "Orphanet:3186"; , ; rdfs:label "Holoprosencephaly - radial heart renal anomalies", "Holoprosencephaly-radial heart renal anomalies syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome"^^xsd:anyURI; "ORPHA:3186" . _:deaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder."; "Orphanet:3186" . _:deafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002727"; "MONDO:equivalentTo" . _:deb2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20804; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20804 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:deb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:deb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:3186/attributed", "ORDO:3186/ntbt", "Orphanet:3186" . _:deb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566655"; "MONDO:equivalentTo", "MONDO:ontobio" . _:deb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:184705"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:debbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:184705"; "GARD:0002727", "MONDO:equivalentTo", "ORDO:3186/e", "Orphanet:3186" . _:debed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716233007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:dec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1866649"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dec1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1866649"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:184705", "Orphanet:3186" . _:dec5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steinfeld syndrome"; "Orphanet:3186" . _:dec8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "holoprosencephaly-radial heart renal anomalies syndrome"; rdfs:comment "preferred label from MONDO" . _:dec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STEINFELD syndrome"; "OMIM:184705" . _:decad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "holoprosencephaly radial heart renal anomalies"; "GARD:0002727" . _:deced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3186" . _:decfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome"^^xsd:anyURI; "GARD:0002727" . a owl:Class; rdfs:subClassOf ; "Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential."@en; "orphanet"@en; "ICD-10:C40.0", "ICD-10:C40.1", "ICD-10:C40.2", "ICD-10:C40.3", "ICD-10:C41.2", "ICD-10:C41.3", "ICD-10:C41.4", "MedDRA:10015560", "OMIM:612219", "UMLS:C0553580"; rdfs:label "Ewing sarcoma"@en; "ORPHA:319" . _:ded4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C40.0"; "NTBT (narrower term maps to a broader term)"@en . _:ded5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C40.1"; "NTBT (narrower term maps to a broader term)"@en . _:ded6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C40.2"; "NTBT (narrower term maps to a broader term)"@en . _:ded8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C40.3"; "NTBT (narrower term maps to a broader term)"@en . _:ded9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C41.2"; "NTBT (narrower term maps to a broader term)"@en . _:dedbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C41.3"; "NTBT (narrower term maps to a broader term)"@en . _:dedcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C41.4"; "NTBT (narrower term maps to a broader term)"@en . _:deded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10015560"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dee0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612219"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dee1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0553580"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0017891", "UMLS:CN203941"; "inherited renal cancer-predisposing syndrome"; "Orphanet:319328"; ; rdfs:label "Inherited renal cancer-predisposing syndrome", "Inherited renal cancer-predisposing syndrome"@en; "ORPHA:319328" . _:dee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203941"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:dee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited renal cancer-predisposing syndrome"; rdfs:comment "preferred label from MONDO" . _:dee8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319328" . a owl:Class; rdfs:subClassOf , , ; "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."; ; , ; "Carney complex variant"@en; "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."@en; "orphanet"@en; "ICD-10:Q68.8", "ICD10:Q68.8", "MONDO:0012137", "OMIM:608837", "UMLS:C1837245"; "Carney complex - trismus - pseudocamptodactyly syndrome", "Carney complex variant"; "CARNEY complex variant"; "Orphanet:319340"; ; rdfs:label "Carney complex-trismus-pseudocamptodactyly syndrome", "Carney complex-trismus-pseudocamptodactyly syndrome"@en; "ORPHA:319340" . _:deead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."; "Orphanet:319340" . _:deebd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20834; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20834 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q68.8"; "Attributed"@en . _:deecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q68.8"; "NTBT (narrower term maps to a broader term)"@en . _:deedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q68.8"; "ORDO:319340/attributed", "ORDO:319340/ntbt", "Orphanet:319340" . _:deeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608837"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:deefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608837"; "MONDO:equivalentTo", "ORDO:319340/e", "Orphanet:319340" . _:def0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1837245"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:def1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney complex - trismus - pseudocamptodactyly syndrome"; rdfs:comment "preferred label from MONDO" . _:def2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney complex variant"; "Orphanet:319340" . _:def3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARNEY complex variant"; "OMIM:608837" . _:def4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319340" . a owl:Class; rdfs:subClassOf , ; "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML."@en; "orphanet"@en; "OMIM:605724"; rdfs:label "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations", "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"@en; "ORPHA:319462" . _:def5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605724"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients."; , , , ; "FNMTC"@en, "Familial pure nonmedullary thyroid carcinoma"@en; "Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology."@en; "orphanet"@en; "ICD-10:C73", "ICD10:C73", "MONDO:0017895", "NCIT:C118829", "OMIM:188470", "OMIM:188550", "OMIM:603386", "OMIM:603744", "OMIM:606240", "OMIM:616534", "OMIM:616535", "UMLS:C3896673", "UMLS:CN227215"; "FNMTC", "Familial pure nonmedullary thyroid carcinoma", "familial nonmedullary thyroid gland carcinoma", "familial papillary or follicular thyroid carcinoma", "familial pure nonmedullary thyroid carcinoma"; "Orphanet:319487"; ; rdfs:label "Familial papillary or follicular thyroid carcinoma", "Familial papillary or follicular thyroid carcinoma"@en; "ORPHA:319487" . _:def8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients."; "NCIT:C118829" . _:def9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20847; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20847 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C73"; "Attributed"@en . _:defbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C73"; "NTBT (narrower term maps to a broader term)"@en . _:defcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C73"; "ORDO:319487/attributed", "ORDO:319487/ntbt", "Orphanet:319487" . _:df00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C118829"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:df03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188470"; "BTNT (broader term maps to a narrower term)"@en . _:df06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188550"; "NTBT (narrower term maps to a broader term)"@en . _:df07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603386"; "BTNT (broader term maps to a narrower term)"@en . _:df0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603744"; "BTNT (broader term maps to a narrower term)"@en . _:df0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606240"; "BTNT (broader term maps to a narrower term)"@en . _:df11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616534"; "BTNT (broader term maps to a narrower term)"@en . _:df13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616535"; "BTNT (broader term maps to a narrower term)"@en . _:df14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3896673"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C118829" . _:df18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227215"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:df1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FNMTC"; "NCIT:C118829", "Orphanet:319487" . _:df1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial nonmedullary thyroid gland carcinoma"; "NCIT:C118829" . _:df1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial papillary or follicular thyroid carcinoma"; rdfs:comment "preferred label from MONDO" . _:df23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial pure nonmedullary thyroid carcinoma"; "Orphanet:319487" . _:df25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319487" . a owl:Class; rdfs:subClassOf , ; "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting."; , , ; "orphanet"; "DC:0000711", "ICD10:C73", "MONDO:0017896", "OMIMPS:188550", "UMLS:C3501843", "UMLS:CN227216"; "familial nonmedullary thyroid carcinoma", "thyroid cancer, nonmedullary"; "Orphanet:319494"; ; rdfs:comment "Note the OMIM phenotypic series lacks a member classified by ORDO"; rdfs:label "Familial nonmedullary thyroid carcinoma" . _:df2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting."; "Orphanet:319494" . _:df2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000711"; "MONDO:equivalentTo" . _:df2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C73"; "ORDO:319494/attributed", "ORDO:319494/ntbt", "Orphanet:319494" . _:df2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:188550"; "DC:0000711", "MONDO:equivalentTo" . _:df31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3501843"; "MONDO:equivalentTo" . _:df32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227216"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:df33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial nonmedullary thyroid carcinoma"; rdfs:comment "preferred label from MONDO" . _:df34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid cancer, nonmedullary"; "MONDO:0000201" . _:df36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319494" . a owl:Class; rdfs:subClassOf ; "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)."; , ; "Autosomal recessive MSMD due to a complete deficiency"@en; "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0017897", "UMLS:CN203953"; "Autosomal recessive MSMD due to a complete deficiency", "autosomal recessive MSMD due to a complete deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive"; "Orphanet:319535"; , ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"@en; "ORPHA:319535" . _:df3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)."; "Orphanet:319535" . _:df3fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20876; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20876 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:df40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:df45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319535/attributed", "ORDO:319535/ntbt", "Orphanet:319535" . _:df4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203953"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:df4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive MSMD due to a complete deficiency"; "Orphanet:319535" . _:df4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"; rdfs:comment "preferred label from MONDO" . _:df4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:df4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319535" . a owl:Class; rdfs:subClassOf ; " genes which lead to a residual response of IFN-gamma.", "Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency."; , ; "Autosomal recessive MSMD due to a partial deficiency"@en; "Autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD) due to a partial deficiency describes a group of genetic variants of MSMD (see this term) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0017898", "UMLS:CN203954"; "Autosomal recessive MSMD due to a partial deficiency", "autosomal recessive MSMD due to a partial deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive"; "Orphanet:319539"; , ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency"@en; "ORPHA:319539" . _:df4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency."; "MONDO:patterns/autosomal_recessive" . _:df50d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20886; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20886 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:df51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:df52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319539/attributed", "ORDO:319539/ntbt", "Orphanet:319539" . _:df53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203954"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:df54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive MSMD due to a partial deficiency"; "Orphanet:319539" . _:df55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency"; rdfs:comment "preferred label from MONDO" . _:df56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:df57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319539" . a owl:Class; rdfs:subClassOf ; "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)."; , ; "Autosomal dominant MSMD due to a partial deficiency"@en; "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0017899", "UMLS:CN203955"; "Autosomal dominant MSMD due to a partial deficiency", "autosomal dominant MSMD due to a partial deficiency", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant"; "Orphanet:319543"; , ; rdfs:label "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency"@en; "ORPHA:319543" . _:df5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)."; "Orphanet:319543" . _:df61d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20896; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20896 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:df63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:df65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319543/attributed", "ORDO:319543/ntbt", "Orphanet:319543" . _:df67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203955"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:df6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant MSMD due to a partial deficiency"; "Orphanet:319543" . _:df6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency"; rdfs:comment "preferred label from MONDO" . _:df72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:df73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319543" . a owl:Class; rdfs:subClassOf , , , ; "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).", "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."; , ; "MSMD due to complete IFNgammaR2 deficiency"@en, "MSMD due to complete interferon gamma receptor 2 deficiency"@en, "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency"@en; "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0017900", "OMIM:614889", "UMLS:CN203956"; "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "MSMD due to complete IFNgammaR2 deficiency", "MSMD due to complete interferon gamma receptor 2 deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"; "Orphanet:319547"; , ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"@en; "ORPHA:319547" . _:df77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."; "Orphanet:319547" . _:df78d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20906; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20906 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:df79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:df7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319547/attributed", "ORDO:319547/ntbt", "Orphanet:319547" . _:df7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614889"; "NTBT (narrower term maps to a broader term)"@en . _:df7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614889"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:df7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203956"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:df7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"; "MONDO:patterns/disease_series_by_gene" . _:df7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete IFNgammaR2 deficiency"; "Orphanet:319547" . _:df80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete interferon gamma receptor 2 deficiency"; "Orphanet:319547" . _:df81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency"; "Orphanet:319547" . _:df82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"; rdfs:comment "preferred label from MONDO" . _:df83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319547" . a owl:Class; rdfs:subClassOf , ; " infections.", "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene."; , , ; "MSMD due to complete IL12RB1 deficiency"@en, "MSMD due to complete interleukin 12 receptor beta 1 deficiency"@en, "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"@en; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections."@en; "orphanet", "orphanet"@en; "GARD:0010984", "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0013955", "OMIM:614891", "UMLS:C4013949"; "IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "MSMD due to complete IL12RB1 deficiency", "MSMD due to complete interleukin 12 receptor beta 1 deficiency", "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1", "immunodeficiency type 30", "mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"; "IL-12Râ1 deficiency", "IL12RB1 deficiency", "IMD30", "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency", "immunodeficiency 30", "immunodeficiency 30; IMD30"; "Orphanet:319552"; , ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"@en; "ORPHA:319552" . _:df88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene."; "MONDO:patterns/disease_series_by_gene" . _:df89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010984"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:df8ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20921; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20921 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:df8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:df8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319552/attributed", "ORDO:319552/ntbt", "Orphanet:319552" . _:df90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614891"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:df92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614891"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:df93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614891"; "MONDO:equivalentTo", "ORDO:319552/e", "Orphanet:319552" . _:df94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4013949"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:df96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"; "MONDO:patterns/disease_series_by_gene" . _:df97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete IL12RB1 deficiency"; "Orphanet:319552" . _:df99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete interleukin 12 receptor beta 1 deficiency"; "Orphanet:319552" . _:df9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"; "Orphanet:319552" . _:dfa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 30"; "MONDORULE:2", "OMIM:614891" . _:dfa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"; rdfs:comment "preferred label from MONDO" . _:dfa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL-12Râ1 deficiency"; "GARD:0010984" . _:dfa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL12RB1 deficiency"; "OMIM:614891" . _:dfcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD30"; "MONDO:Lexical", "OMIM:614891" . _:dfcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency"; "GARD:0010984" . _:dfd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 30"; "MONDO:Lexical", "OMIM:614891" . _:dfd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 30; IMD30"; "OMIM:614891" . _:dfd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319552" . a owl:Class; rdfs:subClassOf , ; " infections.", "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene."; , , ; "MSMD due to complete IL12B deficiency"@en, "MSMD due to complete interleukin 12B deficiency"@en, "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"@en; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0013954", "OMIM:614890", "UMLS:C4013948"; "IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "MSMD due to complete IL12B deficiency", "MSMD due to complete interleukin 12B deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B", "immunodeficiency type 29", "mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"; "IL12B deficiency", "IMD29", "immunodeficiency 29", "immunodeficiency 29; IMD29"; "Orphanet:319558"; , ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"@en; "ORPHA:319558" . _:dfddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene."; "MONDO:patterns/disease_series_by_gene" . _:dfded a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20943; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20943 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:dfdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:dfe0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319558/attributed", "ORDO:319558/ntbt", "Orphanet:319558" . _:dfe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614890"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:dfe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614890"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:dfe3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614890"; "MONDO:equivalentTo", "ORDO:319558/e", "Orphanet:319558" . _:dfe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4013948"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:dfe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"; "MONDO:patterns/disease_series_by_gene" . _:dfe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete IL12B deficiency"; "Orphanet:319558" . _:dfe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete interleukin 12B deficiency"; "Orphanet:319558" . _:dfe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"; "Orphanet:319558" . _:dfe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 29"; "MONDORULE:2", "OMIM:614890" . _:dfead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"; rdfs:comment "preferred label from MONDO" . _:dfedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL12B deficiency"; "OMIM:614890" . _:dfeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD29"; "MONDO:Lexical", "OMIM:614890" . _:dfefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 29"; "MONDO:Lexical", "OMIM:614890" . _:dff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 29; IMD29"; "OMIM:614890" . _:dff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319558" . a owl:Class; rdfs:subClassOf , ; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-GuC)rin (BCG) infections.", "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections."; , , ; ; "MSMD due to complete ISG15 deficiency"@en; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0014502", "OMIM:616126", "UMLS:C4015293"; "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "MSMD due to complete ISG15 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15", "mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"; "IMD38", "ISG15 deficiency, autosomal recessive", "immunodeficiency 38 with basal ganglia calcification", "immunodeficiency 38 with basal ganglia calcification; IMD38", "immunodeficiency 38, Mycobacteriosis, autosomal recessive"; "Orphanet:319563"; , ; rdfs:comment "Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease"; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"@en; "ORPHA:319563" . _:dffcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-GuC)rin (BCG) infections."; "Orphanet:319563" . _:dffed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319563" . _:dfffd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20964; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20964 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e001d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e003d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319563/attributed", "ORDO:319563/ntbt", "Orphanet:319563" . _:e006d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616126"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e008d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616126"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e00ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616126"; "MONDO:equivalentTo", "ORDO:319563/e", "Orphanet:319563" . _:e00ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4015293"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:e010d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"; "MONDO:patterns/disease_series_by_gene" . _:e012d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete ISG15 deficiency"; "Orphanet:319563" . _:e014d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"; rdfs:comment "preferred label from MONDO" . _:e017d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD38"; "MONDO:Lexical", "OMIM:616126" . _:e01bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISG15 deficiency, autosomal recessive"; "OMIM:616126" . _:e01dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 38 with basal ganglia calcification"; "MONDO:Lexical", "OMIM:616126" . _:e01fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 38 with basal ganglia calcification; IMD38"; "OMIM:616126" . _:e021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 38, Mycobacteriosis, autosomal recessive"; "OMIM:616126" . _:e025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319563" . a owl:Class; rdfs:subClassOf , , ; "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).", "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."; , ; "Autosomal recessive MSMD due to partial IFNgammaR1 deficiency"@en, "Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency"@en, "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"@en; "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0017901", "OMIM:209950", "UMLS:CN203960"; "Autosomal recessive MSMD due to partial IFNgammaR1 deficiency", "Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency", "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "autosomal recessive MSMD due to partial IFNgammaR1 deficiency", "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"; "Orphanet:319569"; , ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"@en; "ORPHA:319569" . _:e02bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."; "Orphanet:319569" . _:e02dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20982; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e02fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e030d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319569/attributed", "ORDO:319569/ntbt", "Orphanet:319569" . _:e032d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209950"; "NTBT (narrower term maps to a broader term)"@en . _:e034d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203960"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:e035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency"; "MONDO:patterns/disease_series_by_gene" . _:e037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive MSMD due to partial IFNgammaR1 deficiency"; "Orphanet:319569" . _:e039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency"; "Orphanet:319569" . _:e03bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"; rdfs:comment "preferred label from MONDO" . _:e03fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"; "Orphanet:319569" . _:e041d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319569" . a owl:Class; rdfs:subClassOf , , , ; "Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).", "Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."; , ; "Autosomal recessive MSMD due to partial IFNgammaR2 deficiency"@en, "Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency"@en, "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"@en; "Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0017902", "OMIM:614889", "UMLS:CN203961"; "Autosomal recessive MSMD due to partial IFNgammaR2 deficiency", "Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency", "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "autosomal recessive MSMD due to partial IFNgammaR2 deficiency", "autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"; "Orphanet:319574"; , ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"@en; "ORPHA:319574" . _:e043d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."; "Orphanet:319574" . _:e044d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid20995; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid20995 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319574/attributed", "ORDO:319574/ntbt", "Orphanet:319574" . _:e04bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614889"; "NTBT (narrower term maps to a broader term)"@en . _:e04cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203961"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:e04ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency"; "MONDO:patterns/disease_series_by_gene" . _:e050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive MSMD due to partial IFNgammaR2 deficiency"; "Orphanet:319574" . _:e052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency"; "Orphanet:319574" . _:e055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"; rdfs:comment "preferred label from MONDO" . _:e056d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"; "Orphanet:319574" . _:e059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319574" . a owl:Class; rdfs:subClassOf , ; "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).", "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."; , , ; "Autosomal dominant MSMD due to partial IFNgammaR1 deficiency"@en, "Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency"@en, "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"@en; "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0014429", "OMIM:615978", "UMLS:C4014863"; "Autosomal dominant MSMD due to partial IFNgammaR1 deficiency", "Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency", "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "autosomal dominant MSMD due to partial IFNgammaR1 deficiency", "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency", "immunodeficiency type 27B"; "IFNGR1 deficiency, autosomal dominant", "IMD27B", "immunodeficiency 27B", "immunodeficiency 27B, Mycobacteriosis, autosomal dominant", "immunodeficiency 27B; IMD27B"; "Orphanet:319581"; , ; rdfs:label "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"@en; "ORPHA:319581" . _:e05fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."; "Orphanet:319581" . _:e060d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21008; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21008 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e06dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319581/attributed", "ORDO:319581/ntbt", "Orphanet:319581" . _:e06ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615978"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e06fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615978"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e070d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615978"; "MONDO:equivalentTo", "ORDO:319581/e", "Orphanet:319581" . _:e071d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4014863"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:e072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency"; "MONDO:patterns/disease_series_by_gene" . _:e073d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant MSMD due to partial IFNgammaR1 deficiency"; "Orphanet:319581" . _:e074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency"; "Orphanet:319581" . _:e075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"; rdfs:comment "preferred label from MONDO" . _:e076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"; "Orphanet:319581" . _:e077d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 27B"; "MONDORULE:4", "OMIM:615978" . _:e078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR1 deficiency, autosomal dominant"; "OMIM:615978" . _:e079d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD27B"; "MONDO:Lexical", "OMIM:615978" . _:e07ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 27B"; "MONDO:Lexical", "OMIM:615978" . _:e07bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 27B, Mycobacteriosis, autosomal dominant"; "OMIM:615978" . _:e07cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 27B; IMD27B"; "OMIM:615978" . _:e07dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319581" . a owl:Class; rdfs:subClassOf , ; "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).", "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."; , ; "Autosomal dominant MSMD due to partial IFNgammaR2 deficiency"@en, "Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency"@en, "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"@en; "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0017903", "UMLS:CN203963"; "Autosomal dominant MSMD due to partial IFNgammaR2 deficiency", "Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency", "IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "autosomal dominant MSMD due to partial IFNgammaR2 deficiency", "autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"; "Orphanet:319589"; , ; rdfs:label "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"@en; "ORPHA:319589" . _:e081d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."; "Orphanet:319589" . _:e084d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21029; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21029 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e087d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319589/attributed", "ORDO:319589/ntbt", "Orphanet:319589" . _:e089d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203963"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:e08bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency"; "MONDO:patterns/disease_series_by_gene" . _:e08dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant MSMD due to partial IFNgammaR2 deficiency"; "Orphanet:319589" . _:e090d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency"; "Orphanet:319589" . _:e091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"; rdfs:comment "preferred label from MONDO" . _:e093d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"; "Orphanet:319589" . _:e095d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319589" . a owl:Class; rdfs:subClassOf , , ; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections."; , , ; "MSMD due to partial STAT1 deficiency"@en, "MSMD due to partial signal transducer and activator of transcription 1 deficiency"@en, "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency"@en; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0013956", "OMIM:614892", "UMLS:C4013950"; "MSMD due to partial STAT1 deficiency", "MSMD due to partial signal transducer and activator of transcription 1 deficiency", "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency", "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1", "immunodeficiency type 31A", "mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"; "IMD31A", "Stat1 deficiency, autosomal dominant", "immunodeficiency 31A", "immunodeficiency 31A, Mycobacteriosis, autosomal dominant", "immunodeficiency 31A; IMD31A"; "Orphanet:319595"; , ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency", "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"@en; "ORPHA:319595" . _:e09bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections."; "Orphanet:319595" . _:e09cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21041; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21041 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e09fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e0a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319595/attributed", "ORDO:319595/ntbt", "Orphanet:319595" . _:e0a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614892"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e0a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614892"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e0a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614892"; "MONDO:equivalentTo", "ORDO:319595/e", "Orphanet:319595" . _:e0a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4013950"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:e0a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to partial STAT1 deficiency"; "Orphanet:319595" . _:e0aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to partial signal transducer and activator of transcription 1 deficiency"; "Orphanet:319595" . _:e0add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency"; "Orphanet:319595" . _:e0afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency"; "MONDO:patterns/disease_series_by_gene" . _:e0b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 31A"; "MONDORULE:4", "OMIM:614892" . _:e0b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"; rdfs:comment "preferred label from MONDO" . _:e0b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD31A"; "MONDO:Lexical", "OMIM:614892" . _:e0b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stat1 deficiency, autosomal dominant"; "OMIM:614892" . _:e0b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31A"; "MONDO:Lexical", "OMIM:614892" . _:e0b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31A, Mycobacteriosis, autosomal dominant"; "OMIM:614892" . _:e0bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31A; IMD31A"; "OMIM:614892" . _:e0bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319595" . a owl:Class; rdfs:subClassOf , ; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG)..", "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG).."; , , ; "MSMD due to partial IRF8 deficiency"@en, "MSMD due to partial interferon regulatory factor 8 deficiency"@en, "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"@en; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG).."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0013957", "OMIM:614893", "OMIM:614894", "UMLS:C3808589"; "IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "MSMD due to partial IRF8 deficiency", "MSMD due to partial interferon regulatory factor 8 deficiency", "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency", "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8", "immunodeficiency type 32A", "mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"; "CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant", "IMD32A", "IRF8 deficiency, autosomal dominant", "immunodeficiency 32A", "immunodeficiency 32A, Mycobacteriosis, autosomal dominant", "immunodeficiency 32A; IMD32A"; "Orphanet:319600"; , ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency", "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"@en; "ORPHA:319600" . _:e0c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG).."; "Orphanet:319600" . _:e0c5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21062; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e0c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e0c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319600/attributed", "ORDO:319600/ntbt", "Orphanet:319600" . _:e0c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614893"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e0cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614893"; "MONDO:equivalentTo", "ORDO:319600/e", "Orphanet:319600" . _:e0cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614894"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e0cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3808589"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614893" . _:e0f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency"; "MONDO:patterns/disease_series_by_gene" . _:e0f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to partial IRF8 deficiency"; "Orphanet:319600" . _:e0f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to partial interferon regulatory factor 8 deficiency"; "Orphanet:319600" . _:e0f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"; "Orphanet:319600" . _:e0f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 32A"; "MONDORULE:4", "OMIM:614893" . _:e0f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"; rdfs:comment "preferred label from MONDO" . _:e0fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant"; "OMIM:614893" . _:e0fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD32A"; "MONDO:Lexical", "OMIM:614893" . _:e0fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRF8 deficiency, autosomal dominant"; "OMIM:614893" . _:e0ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 32A"; "MONDO:Lexical", "OMIM:614893" . _:e101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 32A, Mycobacteriosis, autosomal dominant"; "OMIM:614893" . _:e102d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 32A; IMD32A"; "OMIM:614893" . _:e106d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319600" . a owl:Class; rdfs:subClassOf , ; ") genes. They are characterized by mycobacterial infections, occuring in males.", "X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males."; , , , ; "X-linked MSMD"@en; "X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males."@en; "orphanet", "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0017905", "OMIM:300584", "OMIM:300636", "OMIM:300645", "SCTID:719814009", "UMLS:C4304413", "UMLS:CN203967"; "X-linked MSMD", "X-linked mendelian susceptibility to mycobacterial diseases", "mendelian susceptibility to mycobacterial diseases, X-linked"; "Orphanet:319605"; , ; rdfs:label "X-linked mendelian susceptibility to mycobacterial diseases", "X-linked mendelian susceptibility to mycobacterial diseases"@en; "ORPHA:319605" . _:e10bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males."; "Orphanet:319605" . _:e10dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21084; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21084 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e10fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e110d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319605/attributed", "ORDO:319605/ntbt", "Orphanet:319605" . _:e111d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300584"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e112d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300636"; "BTNT (broader term maps to a narrower term)"@en . _:e113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300645"; "BTNT (broader term maps to a narrower term)"@en . _:e116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:719814009"; "MONDO:equivalentTo" . _:e117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4304413"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo" . _:e11cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203967"; "MEDGEN:kboom-pr96-c96", "MONDO:equivalentTo" . _:e11dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked MSMD"; "Orphanet:319605" . _:e11ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked mendelian susceptibility to mycobacterial diseases"; rdfs:comment "preferred label from MONDO" . _:e11fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases, X-linked"; "MONDO:patterns/x_linked" . _:e120d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319605" . a owl:Class; rdfs:subClassOf , ; "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the IKBKG gene."; , , , ; "X-linked MSMD due to IKBKG deficiency"@en, "X-linked MSMD due to NEMO deficiency"@en, "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency"@en; "GARD:0012915", "ICD-10:D84.8", "ICD10:D84.8", "MESH:C567070", "MONDO:0010386", "OMIM:300636", "UMLS:C1970879"; "IKBKG X-linked mendelian susceptibility to mycobacterial diseases", "X-linked MSMD due to IKBKG deficiency", "X-linked MSMD due to NEMO deficiency", "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG", "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency", "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency", "immunodeficiency type 33"; "IMD33", "NEMO deficiency syndrome", "NF-kappa B essential modulator deficiency", "atypical Mycobacteriosis, familial, X-linked 1", "familial X-linked 1 atypical mycobacteriosis", "immunodeficiency 33", "immunodeficiency 33, Mycobacteriosis, X-linked", "immunodeficiency 33; IMD33"; "Orphanet:319612"; , ; rdfs:label "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency", "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"@en; "ORPHA:319612" . _:e122d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the IKBKG gene."; "MONDO:patterns/disease_series_by_gene" . _:e123d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012915"; "MONDO:equivalentTo", "OMIM-shared" . _:e126d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21100; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21100 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e128d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e129d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319612/attributed", "ORDO:319612/ntbt", "Orphanet:319612" . _:e12bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567070"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e12ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300636"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e12fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300636"; "MONDO:equivalentTo", "ORDO:319612/e", "Orphanet:319612" . _:e131d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970879"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:300636" . _:e132d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IKBKG X-linked mendelian susceptibility to mycobacterial diseases"; "MONDO:patterns/disease_series_by_gene" . _:e134d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked MSMD due to IKBKG deficiency"; "Orphanet:319612" . _:e136d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked MSMD due to NEMO deficiency"; "Orphanet:319612" . _:e137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"; rdfs:comment "preferred label from MONDO" . _:e138d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency"; "Orphanet:319612" . _:e139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 33"; "MONDORULE:2", "OMIM:300636" . _:e13ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD33"; "MONDO:Lexical", "OMIM:300636" . _:e13bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEMO deficiency syndrome"; "GARD:0012915" . _:e13dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NF-kappa B essential modulator deficiency"; "GARD:0012915" . _:e13ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical Mycobacteriosis, familial, X-linked 1"; "OMIM:300636" . _:e141d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial X-linked 1 atypical mycobacteriosis"; "GARD:0012915" . _:e143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 33"; "MONDO:Lexical", "OMIM:300636" . _:e145d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 33, Mycobacteriosis, X-linked"; "OMIM:300636" . _:e146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 33; IMD33"; "OMIM:300636" . _:e148d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319612" . a owl:Class; rdfs:subClassOf , ; "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene."; , , , ; "X-linked MSMD due to CYBB deficiency"@en; "ICD-10:D84.8", "ICD10:D84.8", "MESH:C567068", "MONDO:0010389", "OMIM:300645", "UMLS:C1970859"; "CYBB X-linked mendelian susceptibility to mycobacterial diseases", "X-linked MSMD due to CYBB deficiency", "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB", "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "immunodeficiency type 34"; "IMD34", "atypical Mycobacteriosis, familial, X-linked 2", "immunodeficiency 34", "immunodeficiency 34, Mycobacteriosis, X-linked", "immunodeficiency 34; IMD34"; "Orphanet:319623"; , ; rdfs:label "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"@en; "ORPHA:319623" . _:e14dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene."; "MONDO:patterns/disease_series_by_gene" . _:e14ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21124; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21124 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:e14fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:e151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:319623/attributed", "ORDO:319623/ntbt", "Orphanet:319623" . _:e153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567068"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e154d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300645"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e155d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300645"; "MONDO:equivalentTo", "ORDO:319623/e", "Orphanet:319623" . _:e157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970859"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:300645" . _:e15cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CYBB X-linked mendelian susceptibility to mycobacterial diseases"; "MONDO:patterns/disease_series_by_gene" . _:e15dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked MSMD due to CYBB deficiency"; "Orphanet:319623" . _:e15ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"; rdfs:comment "preferred label from MONDO" . _:e15fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 34"; "MONDORULE:2", "OMIM:300645" . _:e160d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD34"; "MONDO:Lexical", "OMIM:300645" . _:e161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atypical Mycobacteriosis, familial, X-linked 2"; "OMIM:300645" . _:e162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 34"; "MONDO:Lexical", "OMIM:300645" . _:e163d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 34, Mycobacteriosis, X-linked"; "OMIM:300645" . _:e164d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 34; IMD34"; "OMIM:300645" . _:e165d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319623" . a owl:Class; rdfs:subClassOf , , , , ; ; , , , ; "DHFR deficiency"@en, "Dihydrofolate reductase deficiency"@en; "GARD:0011000", "ICD-10:D52.8", "ICD10:D52.8", "MESH:C565095", "MONDO:0013456", "OMIM:613839", "SCTID:124178006", "UMLS:C3151205"; "DHFR deficiency", "Dihydrofolate reductase deficiency", "constitutional megaloblastic anemia with severe neurologic disease", "dihydrofolate reductase deficiency"; "megaloblastic anemia due to dihydrofolate reductase deficiency"; "Orphanet:319651"; ; rdfs:label "Constitutional megaloblastic anemia with severe neurologic disease", "Constitutional megaloblastic anemia with severe neurologic disease"@en; "ORPHA:319651" . _:e16dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011000"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:e16fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21143; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21143 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D52.8"; "Attributed"@en . _:e170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D52.8"; "NTBT (narrower term maps to a broader term)"@en . _:e171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D52.8"; "ORDO:319651/attributed", "ORDO:319651/ntbt", "Orphanet:319651" . _:e172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C565095"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e174d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613839"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e175d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613839"; "MONDO:equivalentTo", "ORDO:319651/e", "Orphanet:319651" . _:e177d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124178006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.60" . _:e17ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151205"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e17cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHFR deficiency"; "OMIM:613839", "Orphanet:319651" . _:e17dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional megaloblastic anemia with severe neurologic disease"; rdfs:comment "preferred label from MONDO" . _:e17ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dihydrofolate reductase deficiency"; "Orphanet:319651" . _:e180d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megaloblastic anemia due to dihydrofolate reductase deficiency"; "OMIM:613839" . _:e182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:319651" . a owl:Class; rdfs:subClassOf , , , ; "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism."; ; , , , , , , , , , , ; ; "11-beta-hydroxysteroid dehydrogenase deficiency type 2"@en, "Ulick syndrome"@en; "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism."@en; "orphanet", "orphanet"@en; "DOID:0090121", "GARD:0000433", "ICD-10:E26.1", "ICD10:E26.1", "MESH:C537422", "MONDO:0009025", "MSH:C537422", "MSH:D043204", "MeSH:C537422", "MeSH:D043204", "NCIT:C131083", "OMIM:218030", "SCTID:703256004", "UMLS:C0342488", "UMLS:C2936861", "UMLS:C3887949", "UMLS:CN203981"; "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency", "11-beta-hydroxysteroid dehydrogenase deficiency type 2", "Ulick syndrome", "ape", "apparent mineralocorticoid excess", "cortisol 11-beta-ketoreductase deficiency"; "AME", "AME 1", "Ame1", "apparent mineralocorticoid EXCESS; AME", "cortisol 11-Beta-ketoreductase deficiency"; "Orphanet:320"; , ; rdfs:label "Apparent mineralocorticoid excess", "Apparent mineralocorticoid excess"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess"^^xsd:anyURI; "ORPHA:320" . _:e191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism."; "Orphanet:320" . _:e192d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:0090121" . _:e193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090121"; "MONDO:equivalentTo" . _:e194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000433"; "MONDO:equivalentTo" . _:e195d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21161; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21161 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.1"; "Attributed"@en . _:e196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.1"; "NTBT (narrower term maps to a broader term)"@en . _:e197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.1"; "DOID:0090121", "ORDO:320/attributed", "ORDO:320/ntbt", "Orphanet:320" . _:e198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537422"; "DOID:0090121", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:320/e", "Orphanet:320" . _:e199d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537422"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e19cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D043204"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e19ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131083"; "MONDO:equivalentTo" . _:e1a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:218030"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e1a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:218030"; "DOID:0090121", "MONDO:equivalentTo", "ORDO:320/e", "Orphanet:320" . _:e1a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703256004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e1a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342488"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e1aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936861"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e1acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936861"; "DOID:0090121", "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "ORDO:320/e", "Orphanet:320" . _:e1aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3887949"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e1afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3887949"; "MONDO:equivalentTo", "Orphanet:320" . _:e1b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203981"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:e1b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency"; "NCIT:C131083" . _:e1b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "11-beta-hydroxysteroid dehydrogenase deficiency type 2"; "DOID:0090121", "Orphanet:320" . _:e1b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ulick syndrome"; "DOID:0090121", "Orphanet:320" . _:e1bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ape"; "DOID:0090121" . _:e1bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apparent mineralocorticoid excess"; "MONDO:Lexical", "OMIM:218030" . _:e1bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apparent mineralocorticoid excess"; rdfs:comment "preferred label from MONDO" . _:e1c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cortisol 11-beta-ketoreductase deficiency"; "DOID:0090121" . _:e1c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AME"; "MONDO:Lexical", "OMIM:218030" . _:e1cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AME 1"; "GARD:0000433" . _:e1cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ame1"; "OMIM:218030" . _:e1d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apparent mineralocorticoid EXCESS; AME"; "OMIM:218030" . _:e1d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cortisol 11-Beta-ketoreductase deficiency"; "OMIM:218030" . _:e1d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000433" . _:e1d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:320" . _:e1d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess"^^xsd:anyURI; "GARD:0000433" . a owl:Class; rdfs:subClassOf , , , , , , ; "Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones."; , , , , ; , , , , , , ; "Bessel-Hagen disease"@en, "Multiple cartilaginous exostoses"@en; "Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones."@en; "orphanet"@en; "DOID:206", "EFO:0005560", "GARD:0007035", "ICD-10:Q78.6", "ICD10:Q78.6", "MESH:D005097", "MONDO:0005508", "NCIT:C5183", "OMIM:133700", "OMIM:133701", "OMIM:600209", "SCTID:254044004", "SCTID:716742001", "UMLS:C0015306", "UMLS:C0206641", "UMLS:CN204014"; "Bessel-Hagen disease", "EXT1/EXT2-CDG", "Multiple cartilaginous exostoses", "hereditary multiple osteochondromas", "multiple cartilaginous exostoses", "multiple congenital exostosis", "multiple exostosis syndromes", "multiple ostechondromas", "osteochondromatosis syndrome", "osteochondromatosis syndrome (disorder) [ambiguous]"; "hereditary multiple exostoses 1", "hereditary multiple exostoses 2", "hereditary multiple exostoses 3"; "EXT", "HMO", "hereditary multiple exostoses", "hereditary multiple exostosis", "multiple exostoses"; "Orphanet:321"; , ; rdfs:label "Multiple osteochondromas", "Multiple osteochondromas"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas"^^xsd:anyURI; "ORPHA:321" . _:e1eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones."; "Orphanet:321" . _:e1f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:206"; "EFO:0005560", "MONDO:equivalentTo" . _:e1f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0005560"; "MONDO:equivalentTo" . _:e1f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007035"; "MONDO:equivalentTo" . _:e1fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.6"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e200d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21198; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21198 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.6"; "Specific code (The term has its own code in the ICD10)"@en . _:e206d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.6"; "DOID:206", "ORDO:321/e", "ORDO:321/specific", "Orphanet:321" . _:e208d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005097"; "DOID:206", "MONDO:equivalentTo" . _:e20ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C5183"; "DOID:206", "EFO:0005560", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:e20cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:133700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e20dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:133701"; "BTNT (broader term maps to a narrower term)"@en . _:e220d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600209"; "BTNT (broader term maps to a narrower term)"@en . _:e221d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254044004"; "DOID:206", "EFO:0005560", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.78/0.05" . _:e222d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716742001"; "MONDO:equivalentTo" . _:e223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015306"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e224d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206641"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e225d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204014"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:e226d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bessel-Hagen disease"; "Orphanet:321" . _:e227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple osteochondromas"; rdfs:comment "preferred label from MONDO" . _:e229d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cartilaginous exostoses"; "Orphanet:321" . _:e22ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple congenital exostosis"; "DOID:206" . _:e22bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple exostosis syndromes"; "DOID:206" . _:e22dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple ostechondromas"; "DOID:206" . _:e22fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteochondromatosis syndrome"; "DOID:206" . _:e231d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteochondromatosis syndrome (disorder) [ambiguous]"; "DOID:206" . _:e232d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple exostoses 1"; "DOID:206" . _:e233d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple exostoses 2"; "DOID:206" . _:e234d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple exostoses 3"; "DOID:206" . _:e236d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMO"; "GARD:0007035" . _:e237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple exostoses"; "GARD:0007035" . _:e239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple exostosis"; "GARD:0007035" . _:e23bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple exostoses"; "GARD:0007035" . _:e23dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:321" . _:e23ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas"^^xsd:anyURI; "GARD:0007035" . a owl:Class; rdfs:subClassOf , , , ; "Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus."; , , ; , , ; "BEEC"@en, "Bladder exstrophy-epispadias-cloacal extrophy complex"@en, "EEC"@en; "Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus."@en; "orphanet"@en; "DOID:0080173", "GARD:0002207", "ICD-10:Q64.1", "ICD10:Q64.1", "MONDO:0017919", "OMIM:258040", "OMIM:600057", "UMLS:C1838703"; "BEEC", "Bladder exstrophy-epispadias-cloacal extrophy complex", "EEC", "bladder exstrophy-epispadias-cloacal exstrophy complex", "bladder exstrophy-epispadias-cloacal extrophy complex", "exstrophy-epispadias complex"; "Orphanet:322"; ; rdfs:label "Exstrophy-epispadias complex", "Exstrophy-epispadias complex"@en; "ORPHA:322" . _:e247d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus."; "Orphanet:322" . _:e248d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:322" . _:e249d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:322" . _:e24ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:322" . _:e251d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080173"; "MONDO:equivalentTo" . _:e253d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002207"; "MONDO:equivalentTo", "Orphanet-shared" . _:e254d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21234; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21234 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q64.1"; "Attributed"@en . _:e257d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q64.1"; "NTBT (narrower term maps to a broader term)"@en . _:e259d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q64.1"; "ORDO:322/attributed", "ORDO:322/ntbt", "Orphanet:322" . _:e25dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:258040"; "BTNT (broader term maps to a narrower term)"@en . _:e25fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600057"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e260d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1838703"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1838703"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:322" . _:e262d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BEEC"; "Orphanet:322" . _:e263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EEC"; "Orphanet:322" . _:e264d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bladder exstrophy-epispadias-cloacal exstrophy complex"; rdfs:comment "preferred label from MONDO" . _:e265d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bladder exstrophy-epispadias-cloacal extrophy complex"; "Orphanet:322" . _:e266d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "exstrophy-epispadias complex"; "DOID:0080173" . _:e267d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:322" . a owl:Class; rdfs:subClassOf , , , ; "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues."; , ; ; "Deafness-thyroid hormone resistance syndrome"@en, "Refetoff syndrome"@en; "ICD-10:E07.8", "ICD10:E07.8", "MONDO:0009043", "OMIM:188570", "OMIM:274300", "UMLS:C2940786", "UMLS:C3489796"; "Deafness - thyroid hormone resistance", "GRTH", "Refetoff syndrome", "generalized resistance to thyroid hormone"; "deafness-thyroid hormone resistance syndrome"; "Orphanet:3221"; ; rdfs:label "Generalized resistance to thyroid hormone", "Generalized resistance to thyroid hormone"@en; "ORPHA:3221" . _:e26bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues."; "MONDO:cjm", "PMID:8475937" . _:e26cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21249; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21249 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E07.8"; "Attributed"@en . _:e26fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E07.8"; "NTBT (narrower term maps to a broader term)"@en . _:e270d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E07.8"; "ORDO:3221/attributed", "ORDO:3221/ntbt", "Orphanet:3221" . _:e271d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188570"; "BTNT (broader term maps to a narrower term)"@en . _:e272d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:274300"; "BTNT (broader term maps to a narrower term)"@en . _:e273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2940786"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e275d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3489796"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRTH"; "PMID:8475937" . _:e27ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Refetoff syndrome"; "Orphanet:3221" . _:e27bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalized resistance to thyroid hormone"; rdfs:comment "preferred label from MONDO" . _:e27cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deafness-thyroid hormone resistance syndrome"; "Orphanet:3221" . _:e27ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3221" . a owl:Class; rdfs:subClassOf , , ; , ; "Orphanet:68347", "UMLS:CN205528"; "tumor of hematopoietic and lymphoid tissues"; "Orphanet:322126"; ; rdfs:label "Genetic tumor of hematopoietic and lymphoid tissues" . _:e282d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:68347"; "MONDO:equivalentTo" . _:e284d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205528"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:e285d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of hematopoietic and lymphoid tissues"; rdfs:comment "preferred label from MONDO" . _:e286d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68347" . a owl:Class; rdfs:subClassOf , , , , ; "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement.", "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms)."; , , , , ; "PRPP synthetase superactivity"@en, "PRPS1 superactivity"@en; "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms)."@en; "orphanet", "orphanet"@en; "ICD-10:E79.8", "ICD10:E79.8", "MESH:C567064", "MONDO:0010395", "OMIM:300661", "SCTID:723454008", "UMLS:C1970827"; "PRPP synthetase superactivity", "PRPS1 superactivity", "phosphoribosylpyrophosphate synthetase superactivity"; "gout, PRPS-related"; "Orphanet:3222"; ; rdfs:label "Phosphoribosylpyrophosphate synthetase superactivity", "Phosphoribosylpyrophosphate synthetase superactivity"@en; "ORPHA:3222" . _:e28dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms)."; "Orphanet:3222" . _:e28ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21267; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21267 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E79.8"; "Attributed"@en . _:e290d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E79.8"; "NTBT (narrower term maps to a broader term)"@en . _:e291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E79.8"; "ORDO:3222/attributed", "ORDO:3222/ntbt", "Orphanet:3222" . _:e292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567064"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e293d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300661"; "NTBT (narrower term maps to a broader term)"@en . _:e297d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300661"; "MONDO:equivalentTo", "ORDO:3222/e", "Orphanet:3222" . _:e299d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:723454008"; "MONDO:equivalentTo" . _:e29ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970827"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e29cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970827"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:300661", "Orphanet:3222" . _:e29fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRPP synthetase superactivity"; "Orphanet:3222" . _:e2a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRPS1 superactivity"; "OMIM:300661", "Orphanet:3222" . _:e2a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphoribosylpyrophosphate synthetase superactivity"; "OMIM:300661" . _:e2a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphoribosylpyrophosphate synthetase superactivity"; rdfs:comment "preferred label from MONDO" . _:e2a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gout, PRPS-related"; "OMIM:300661" . _:e2a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3222" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , , , ; "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations."; , , , , ; , , , , , , , , ; "Alpha-galactosidase A deficiency"@en, "Anderson-Fabry disease"@en, "Angiokeratoma corporis diffusum"@en, "Diffuse angiokeratoma"@en, "FD"@en; "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations."@en; "orphanet", "orphanet"@en; "DOID:14499", "GARD:0006400", "ICD-10:E75.2", "ICD10:E75.2", "ICD10:E75.21", "MESH:D000795", "MONDO:0010526", "MSH:D000795", "MeSH:D000795", "MedDRA:10016016", "NCIT:C84701", "OMIM:301500", "SCTID:16652001", "UMLS:C0002986"; "Alpha-galactosidase A deficiency", "Anderson-Fabry disease", "Angiokeratoma corporis diffusum", "Diffuse angiokeratoma", "FD", "Fabry disease", "Fabry's disease", "Fd", "alpha galactosidase deficiency", "angiokeratoma corporis diffusum", "deficiency of melibiase", "diffuse angiokeratoma"; "Fabry disease, Cardiac variant", "Gla deficiency", "angiokeratoma, diffuse", "ceramide trihexosidase deficiency", "hereditary dystopic lipidosis"; "Orphanet:324"; , ; rdfs:label "Fabry disease", "Fabry disease"@en; "ORPHA:324" . _:e2bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations."; "Orphanet:324" . _:e2c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14499"; "MONDO:equivalentTo" . _:e2c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006400"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:e2c3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21286; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21286 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:e2c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "NTBT (narrower term maps to a broader term)"@en . _:e2c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.2"; "ORDO:324/inclusion", "ORDO:324/ntbt", "Orphanet:324" . _:e2cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.21"; "DOID:14499" . _:e2cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000795"; "DOID:14499", "MONDO:equivalentTo", "ORDO:324/e", "Orphanet:324" . _:e2ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000795"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e2cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016016"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e2ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016016"; "ORDO:324/e", "Orphanet:324" . _:e2cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84701"; "DOID:14499", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:e2d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e2d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301500"; "DOID:14499", "MONDO:equivalentTo", "ORDO:324/e", "Orphanet:324" . _:e2d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:16652001"; "DOID:14499", "MONDO:equivalentTo" . _:e2d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002986"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e2d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002986"; "DOID:14499", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:301500", "ORDO:324/e", "Orphanet:324" . _:e2d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-galactosidase A deficiency"; "DOID:14499", "Orphanet:324" . _:e2d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anderson-Fabry disease"; "OMIM:301500", "Orphanet:324" . _:e2d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fabry disease"; "OMIM:301500" . _:e2dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fabry disease"; rdfs:comment "preferred label from MONDO" . _:e2dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fabry's disease"; "DOID:14499", "MTHICD9_2006:272.7" . _:e2e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fd"; "Orphanet:324" . _:e2e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha galactosidase deficiency"; "CSP2005:1849-9034", "DOID:14499" . _:e2e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angiokeratoma corporis diffusum"; "DOID:14499", "NCIT:C27528", "OMIM:301500", "Orphanet:324" . _:e2edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of melibiase"; "DOID:14499" . _:e2eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse angiokeratoma"; "Orphanet:324" . _:e2f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fabry disease, Cardiac variant"; "OMIM:301500" . _:e2f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gla deficiency"; "OMIM:301500" . _:e2f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angiokeratoma, diffuse"; "GARD:0006400" . _:e2f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ceramide trihexosidase deficiency"; "OMIM:301500" . _:e2f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary dystopic lipidosis"; "OMIM:301500" . _:e2fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:324" . a owl:Class; rdfs:subClassOf , ; "#945;)'.", "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life."; , , ; "Hyperinsulinemic hypoglycemia due to HNF1A deficiency"@en; "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life."@en; "orphanet", "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0017935", "SCTID:721234004", "UMLS:C4303475"; "Hyperinsulinemic hypoglycemia due to HNF1A deficiency", "hyperinsulinemic hypoglycemia due to HNF1A deficiency", "hyperinsulinism due to HNF1A deficiency"; "Orphanet:324575"; ; rdfs:label "Hyperinsulinism due to HNF1A deficiency", "Hyperinsulinism due to HNF1A deficiency"@en; "ORPHA:324575" . _:e301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life."; "Orphanet:324575" . _:e303d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21318; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21318 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:e30ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:e30bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:324575/attributed", "ORDO:324575/ntbt", "Orphanet:324575" . _:e30cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721234004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e30dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4303475"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e30ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to HNF1A deficiency"; "Orphanet:324575" . _:e30fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to HNF1A deficiency"; rdfs:comment "preferred label from MONDO" . _:e310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:324575" . a owl:Class; rdfs:subClassOf , , , , ; , ; "DC:0000561", "ICD10:Q87.1", "MONDO:0017950", "UMLS:CN437676"; "microcephalic primordial dwarfism"; "Orphanet:324761"; ; rdfs:label "Microcephalic primordial dwarfism" . _:e311d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000561"; "MONDO:equivalentTo" . _:e313d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:324761/attributed", "ORDO:324761/ntbt", "Orphanet:324761" . _:e317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN437676"; "MONDO:equivalentTo" . _:e318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephalic primordial dwarfism"; rdfs:comment "preferred label from MONDO" . _:e319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:324761" . a owl:Class; rdfs:subClassOf , , ; "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome."; , , ; "ICD10:E85.0", "MESH:D056660", "MONDO:0017953", "UMLS:CN204099"; "hereditary periodic fever syndrome"; "Orphanet:324924"; ; rdfs:label "Hereditary periodic fever syndrome" . _:e31ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:e31bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "ORDO:324924/attributed", "ORDO:324924/ntbt", "Orphanet:324924" . _:e31cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056660"; "MONDO:equivalentTo" . _:e31dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204099"; "MONDO:equivalentTo" . _:e31ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary periodic fever syndrome"; "MONDO:patterns/hereditary" . _:e31fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary periodic fever syndrome"; rdfs:comment "preferred label from MONDO" . _:e320d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:324924" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017961", "UMLS:CN227225"; "46,XX disorder of gonadal development"; "Orphanet:325055"; ; rdfs:label "46,XX disorder of gonadal development", "46,XX disorder of gonadal development"@en; "ORPHA:325055" . _:e322d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227225"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:e325d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX disorder of gonadal development"; rdfs:comment "preferred label from MONDO" . _:e327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325055" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017962", "UMLS:CN227226"; "46,XX DSD induced by fetoplacental androgens excess", "46,XX disorder of sex development induced by fetoplacental androgens excess"; "Orphanet:325061"; ; rdfs:label "46,XX disorder of sex development induced by fetoplacental androgens excess" . _:e358d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227226"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e359d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX DSD induced by fetoplacental androgens excess"; "Orphanet:325061" . _:e35bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX disorder of sex development induced by fetoplacental androgens excess"; rdfs:comment "preferred label from MONDO" . _:e35ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325061" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0017966", "UMLS:CN227229"; "46,XY disorder of gonadal development"; "Orphanet:325118"; ; rdfs:label "46,XY disorder of gonadal development", "46,XY disorder of gonadal development"@en; "ORPHA:325118" . _:e361d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227229"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:e362d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of gonadal development"; rdfs:comment "preferred label from MONDO" . _:e363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325118" . a owl:Class; rdfs:subClassOf , , ; "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated."; , , ; "46,XY ovotesticular DSD"@en; "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated."@en; "orphanet"@en; "MONDO:0017968", "SCTID:763683004", "UMLS:CN227231"; "46,XY ovotesticular DSD", "46,XY ovotesticular disorder of sex development"; "Orphanet:325345"; ; rdfs:label "46,XY ovotesticular disorder of sex development", "46,XY ovotesticular disorder of sex development"@en; "ORPHA:325345" . _:e364d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated."; "Orphanet:325345" . _:e365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:763683004"; "MONDO:equivalentTo" . _:e366d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227231"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e367d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY ovotesticular DSD"; "Orphanet:325345" . _:e368d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY ovotesticular disorder of sex development"; rdfs:comment "preferred label from MONDO" . _:e369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325345" . a owl:Class; rdfs:subClassOf ; "46,XY DSD of endocrine origin"@en; rdfs:label "46,XY disorder of sex development of endocrine origin"@en; "ORPHA:325351" . a owl:Class; rdfs:subClassOf , ; , ; "46,XY DSD due to impaired androgen production"@en; "MONDO:0017970", "UMLS:CN227233"; "46,XY DSD due to impaired androgen production", "46,XY disorder of sex development due to impaired androgen production"; "Orphanet:325357"; ; rdfs:label "46,XY disorder of sex development due to impaired androgen production", "46,XY disorder of sex development due to impaired androgen production"@en; "ORPHA:325357" . _:e36ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227233"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:e373d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to impaired androgen production"; "Orphanet:325357" . _:e374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to impaired androgen production"; rdfs:comment "preferred label from MONDO" . _:e375d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325357" . a owl:Class; rdfs:subClassOf , , ; "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene."; , , , , , ; "46,XY DSD due to LHB deficiency"@en, "46,XY DSD due to luteinizing hormone subunit beta deficiency"@en, "46,XY disorder of sex development due to LHB deficiency"@en, "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency"@en, "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency"@en; "DOID:0090091", "GARD:0010127", "ICD-10:Q56.1", "ICD10:Q56.1", "ICD9:253.4", "MESH:C537919", "MONDO:0009223", "OMIM:228300", "SCTID:8829008", "UMLS:C0271582"; "46,XY DSD due to LHB deficiency", "46,XY DSD due to luteinizing hormone subunit beta deficiency", "46,XY disorder of sex development due to LHB deficiency", "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency", "LHB hypogonadotropic hypogonadism", "Leydig cell hypoplasia due to LHB deficiency", "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency", "Pasqualini syndrome", "fertile eunuch syndrome", "hypogonadotropic hypogonadism 23 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in LHB"; "HH23", "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)", "hypogonadotropic hypogonadism 23 without anosmia", "hypogonadotropic hypogonadism 23 without anosmia; HH23"; "Orphanet:325448"; ; rdfs:label "Leydig cell hypoplasia due to LHB deficiency", "Leydig cell hypoplasia due to LHB deficiency"@en; "ORPHA:325448" . _:e381d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene."; "MONDO:patterns/disease_series_by_gene" . _:e382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090091"; "MONDO:equivalentTo" . _:e384d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010127"; "MONDO:equivalentTo", "OMIM-shared" . _:e386d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21362; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "Attributed"@en . _:e38bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "NTBT (narrower term maps to a broader term)"@en . _:e38dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56.1"; "DOID:0090091", "ORDO:325448/attributed", "ORDO:325448/ntbt", "Orphanet:325448" . _:e38fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.4"; "MONDO:relatedTo", "i2s" . _:e390d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537919"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:228300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e394d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:228300"; "DOID:0090091", "MONDO:equivalentTo", "ORDO:325448/e", "Orphanet:325448" . _:e395d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:8829008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.68" . _:e397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271582"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:228300" . _:e399d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to LHB deficiency"; "DOID:0090091", "Orphanet:325448" . _:e39ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to luteinizing hormone subunit beta deficiency"; "DOID:0090091", "Orphanet:325448" . _:e39bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to LHB deficiency"; "DOID:0090091", "Orphanet:325448" . _:e39cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency"; "DOID:0090091", "Orphanet:325448" . _:e39ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LHB hypogonadotropic hypogonadism"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:e39fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leydig cell hypoplasia due to LHB deficiency"; "DOID:0090091" . _:e3a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency"; "DOID:0090091", "Orphanet:325448" . _:e3a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pasqualini syndrome"; "DOID:0090091", "OMIM:228300" . _:e3a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fertile eunuch syndrome"; "DOID:0090091", "OMIM:228300" . _:e3a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropic hypogonadism 23 with or without anosmia"; rdfs:comment "preferred label from MONDO" . _:e3add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropic hypogonadism caused by mutation in LHB"; "MONDO:design_pattern" . _:e3afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HH23"; "MONDO:Lexical", "OMIM:228300" . _:e3b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)"; "GARD:0010127" . _:e3b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropic hypogonadism 23 without anosmia"; "MONDO:Lexical", "OMIM:228300" . _:e3b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropic hypogonadism 23 without anosmia; HH23"; "OMIM:228300" . _:e3bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325448" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017971", "UMLS:CN227234"; "46,XY DSD due to a cholesterol synthesis defect", "46,XY DSD due to cholesterol synthesis defect", "46,XY disorder of sex development due to a cholesterol synthesis defect"; "Orphanet:325511"; ; rdfs:label "46,XY disorder of sex development due to cholesterol synthesis defect" . _:e3bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227234"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e3c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to a cholesterol synthesis defect"; "Orphanet:325511" . _:e3c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to a cholesterol synthesis defect"; rdfs:comment "preferred label from MONDO" . _:e3c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325511" . a owl:Class; rdfs:subClassOf , ; "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism."; ; , ; "Sex chromosome DSD"@en; "MESH:D058533", "MONDO:0017975", "UMLS:C2936421"; "Sex chromosome DSD", "sex chromosome disorder of sex development"; "Orphanet:325546"; ; rdfs:label "Sex chromosome disorder of sex development", "Sex chromosome disorder of sex development"@en; "ORPHA:325546" . _:e3c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism."; "MESH:D058533" . _:e3cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058533"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e3ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936421"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e3cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sex chromosome DSD"; "Orphanet:325546" . _:e3cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sex chromosome disorder of sex development"; rdfs:comment "preferred label from MONDO" . _:e3d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325546" . a owl:Class; rdfs:subClassOf ; "DSD of gynecological interest"@en; rdfs:label "Disorder of sex development of gynecological interest"@en; "ORPHA:325620" . a owl:Class; rdfs:subClassOf , ; , ; "46,XY DSD of gynecological interest"@en; "MONDO:0017977", "UMLS:CN227238"; "46,XY DSD of gynecological interest", "46,XY disorder of sex development of gynecological interest"; "Orphanet:325632"; ; rdfs:label "46,XY disorder of sex development of gynecological interest", "46,XY disorder of sex development of gynecological interest"@en; "ORPHA:325632" . _:e3d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227238"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e3d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD of gynecological interest"; "Orphanet:325632" . _:e3d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development of gynecological interest"; rdfs:comment "preferred label from MONDO" . _:e3d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325632" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0017978", "UMLS:CN204125"; "Syndrome with DSD of gynecological interest", "syndrome with DSD of gynecological interest", "syndrome with disorder of sex development of gynecological interest"; "Orphanet:325638"; ; rdfs:label "Syndrome with disorder of sex development of gynecological interest" . _:e3d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204125"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e3d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with DSD of gynecological interest"; "Orphanet:325638" . _:e3dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with disorder of sex development of gynecological interest"; rdfs:comment "preferred label from MONDO" . _:e3dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325638" . a owl:Class; rdfs:subClassOf , ; , ; "Genetic DSD of gynecological interest"@en; "Orphanet:325620", "UMLS:CN227237"; "DSD of gynecological interest", "Genetic DSD of gynecological interest", "disorder of sex development of gynecological interest"; "Orphanet:325665"; ; rdfs:label "Genetic disorder of sex development of gynecological interest", "Genetic disorder of sex development of gynecological interest"@en; "ORPHA:325665" . _:e3ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:325620"; "MONDO:equivalentTo" . _:e3e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227237"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e3e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DSD of gynecological interest"; "Orphanet:325620" . _:e3ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sex development of gynecological interest"; rdfs:comment "preferred label from MONDO" . _:e3eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325620" . a owl:Class; rdfs:subClassOf , , , , ; "A congenital disorder characterized by abnormalities in the development of the sexual characteristics."; ; , , , , , , , ; "Genetic DSD"@en; "CARD", "DSD"; "DOID:1923", "GTR:AN1172969", "MESH:D012734", "MedDRA:10070597", "NCIT:C103186", "Orphanet:90771", "SCTID:39179006", "UMLS:CN757797"; "Genetic DSD", "conditions affecting reproductive development", "differences of Sex development", "disorder of sex development", "disorder of sex differentiation", "disorder of sexual differentiation", "disorders of Sex development", "intersex", "intersex conditions", "sex differentiation disease", "sex differentiation disorder", "sexual differentiation disorder"; "disorder of sex differentiation", "disorders of sex development (DSD)"; "Orphanet:325690"; ; rdfs:label "Genetic disorder of sex development", "Genetic disorder of sex development"@en; "ORPHA:325690" . _:e3f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital disorder characterized by abnormalities in the development of the sexual characteristics."; "NCIT:C103186" . _:e3fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARD"; "NCIT:C103186" . _:e3fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DSD"; "Orphanet:90771" . _:e3fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1923"; "MONDO:equivalentTo" . _:e400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN1172969"; "UMLS:CN757797" . _:e401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012734"; "DOID:1923", "MONDO:equivalentTo", "ORDO:90771/e", "Orphanet:90771" . _:e403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070597"; "ORDO:90771/e", "Orphanet:90771" . _:e405d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C103186"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.77/0.11" . _:e409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:90771"; "MONDO:equivalentTo" . _:e40ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:39179006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e40cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN757797"; "MONDO:equivalentTo" . _:e40ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conditions affecting reproductive development"; "NCIT:C103186" . _:e410d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "differences of Sex development"; "NCIT:C103186" . _:e411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sex development"; "MONDO:0019592" . _:e412d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sex differentiation"; "MONDO:patterns/basis_in_disruption_of_process" . _:e413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sexual differentiation"; "NCIT:C103186" . _:e414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders of Sex development"; "NCIT:C103186" . _:e416d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intersex"; "NCIT:C103186" . _:e418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intersex conditions"; "NCIT:C103186" . _:e41ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sex differentiation disease"; rdfs:comment "preferred label from MONDO" . _:e41cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sex differentiation disorder"; "CSP2005:2586-8784", "DOID:1923" . _:e41ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sexual differentiation disorder"; "NCIT:C103186" . _:e420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of sex differentiation"; "MONDO:patterns/basis_in_disruption_of_process" . _:e421d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders of sex development (DSD)"; "GTR:AN1172969" . _:e423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90771" . a owl:Class; rdfs:subClassOf ; "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures."; ; , , , , , ; "Genetic 46,XX DSD"@en; "ICD10:Q56.2", "MESH:D058489", "NCIT:C127169", "Orphanet:2982", "SCTID:8800006", "UMLS:C2936403", "UMLS:CN776919"; "46,XX DSD", "46,XX differences of Sex development", "46,XX disorder of sex development", "46,XX disorders of Sex development", "Genetic 46,XX DSD", "Genetic female pseudohermaphroditism", "female pseudohermaphroditism"; "Orphanet:325697"; ; rdfs:label "Genetic 46,XX disorder of sex development", "Genetic 46,XX disorder of sex development"@en; "ORPHA:325697" . _:e429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures."; "NCIT:C127169" . _:e42ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56.2"; "ORDO:2982/ntbt", "Orphanet:2982" . _:e42cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058489"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:2982/e", "Orphanet:2982" . _:e433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C127169"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:2982"; "MONDO:equivalentTo" . _:e437d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:8800006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/13.21" . _:e438d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936403"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e43ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936403"; "MONDO:equivalentTo", "NCIT:C127169", "ORDO:2982/e", "Orphanet:2982" . _:e43bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776919"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:e43cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX DSD"; "Orphanet:2982" . _:e43ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX differences of Sex development"; "NCIT:C127169" . _:e440d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX disorder of sex development"; rdfs:comment "preferred label from MONDO" . _:e441d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX disorders of Sex development"; "NCIT:C127169" . _:e444d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female pseudohermaphroditism"; "Orphanet:2982" . _:e445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:2982" . a owl:Class; rdfs:subClassOf ; "Differences of sex development in individuals with 46,XY karyotype."; , , , , ; "Genetic 46,XY DSD"@en; "GARD:0008538", "MESH:D058490", "NCIT:C127171", "Orphanet:98085", "SCTID:8234004", "UMLS:C2751824"; "46,XY DSD", "46,XY differences of Sex development", "46,XY disorder of sex development", "46,XY disorders of Sex development", "Genetic 46,XY DSD"; "46, XY DSD", "46, XY disorders of sexual development", "46, XY female", "XY female"; "Orphanet:325706"; ; rdfs:label "Genetic 46,XY disorder of sex development", "Genetic 46,XY disorder of sex development"@en; "ORPHA:325706" . _:e446d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Differences of sex development in individuals with 46,XY karyotype."; "NCIT:C127171" . _:e447d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008538"; "MONDO:equivalentTo", "Orphanet-shared" . _:e449d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058490"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:98085/e", "Orphanet:98085" . _:e44bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C127171"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e44cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98085"; "MONDO:equivalentTo" . _:e450d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:8234004"; "MONDO:equivalentTo" . _:e453d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2751824"; "MONDO:equivalentTo", "NCIT:C127171", "ORDO:98085/e", "Orphanet:98085" . _:e454d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD"; "Orphanet:98085" . _:e455d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY differences of Sex development"; "NCIT:C127171" . _:e456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development"; rdfs:comment "preferred label from MONDO" . _:e457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorders of Sex development"; "NCIT:C127171" . _:e458d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46, XY DSD"; "GARD:0008538" . _:e459d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46, XY disorders of sexual development"; "GARD:0008538" . _:e45ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46, XY female"; "GARD:0008538" . _:e460d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XY female"; "GARD:0008538" . _:e461d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98085" . a owl:Class; rdfs:subClassOf ; , ; "Genetic 46,XY DSD of endocrine origin"@en; "Orphanet:325351", "UMLS:CN227232"; "46,XY DSD of endocrine origin", "46,XY disorder of sex development of endocrine origin", "Genetic 46,XY DSD of endocrine origin"; "Orphanet:325713"; ; rdfs:label "Genetic 46,XY disorder of sex development of endocrine origin", "Genetic 46,XY disorder of sex development of endocrine origin"@en; "ORPHA:325713" . _:e462d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:325351"; "MONDO:equivalentTo" . _:e47dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227232"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e47ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD of endocrine origin"; "Orphanet:325351" . _:e480d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development of endocrine origin"; rdfs:comment "preferred label from MONDO" . _:e482d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:325351" . a owl:Class; rdfs:subClassOf , , , ; "An autoimmune hematologic disorder characterized by autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatomegaly and splenomegaly. Patients are at an increased risk of developing Hodgkin and non-Hodgkin lymphomas.", "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma."; , , , , , ; "ALPS"@en, "Canale-Smith syndrome"@en, "FAS deficiency"@en; "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma."@en; "orphanet", "orphanet"@en; "CSP:1560-5548", "DOID:6688", "GARD:0008686", "ICD-10:D47.9", "ICD10:D47.9", "ICD10:D72.8", "ICD10:D89.82", "ICD9:279.41", "MESH:D056735", "MONDO:0017979", "MSH:D056735", "MeSH:D056735", "MedDRA:10069521", "NCIT:C37864", "NCIt:C37864", "OMIM:601859", "OMIM:603909", "OMIM:614470", "OMIM:615559", "OMIM:616100", "UMLS:C1328840"; "ALPS", "ALPS (autoimmune lymphoproliferative syndrome)", "Canale-Smith syndrome", "FAS deficiency", "autoimmune lymphoproliferative syndrome"; "autoimmune lymphoproliferative syndrome type 1, autosomal dominant"; "Orphanet:3261"; ; rdfs:label "Autoimmune lymphoproliferative syndrome", "Autoimmune lymphoproliferative syndrome"@en; "ORPHA:3261" . _:e48dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autoimmune hematologic disorder characterized by autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatomegaly and splenomegaly. Patients are at an increased risk of developing Hodgkin and non-Hodgkin lymphomas."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e48ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma."; "Orphanet:3261" . _:e491d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSP:1560-5548"; "DOID:6688" . _:e492d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6688"; "MONDO:equivalentTo" . _:e494d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008686"; "MONDO:equivalentTo", "Orphanet-shared" . _:e498d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21477; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21477 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.9"; "Attributed"@en . _:e49bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.9"; "NTBT (narrower term maps to a broader term)"@en . _:e49dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D47.9"; "DOID:6688", "ORDO:3261/attributed", "ORDO:3261/ntbt", "Orphanet:3261" . _:e49ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D89.82"; "DOID:6688" . _:e49fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.41"; "DOID:6688", "MONDO:superClassOf" . _:e4a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056735"; "DOID:6688", "MONDO:equivalentTo", "ORDO:3261/e", "Orphanet:3261" . _:e4a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D056735"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069521"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069521"; "ORDO:3261/e", "Orphanet:3261" . _:e4acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C37864"; "DOID:6688", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.13" . _:e4aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C37864"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e4b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601859"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603909"; "BTNT (broader term maps to a narrower term)"@en . _:e4b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615559"; "BTNT (broader term maps to a narrower term)"@en . _:e4b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616100"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e4b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1328840"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1328840"; "DOID:6688", "MONDO:equivalentTo", "NCIT:C37864", "ORDO:3261/e", "Orphanet:3261" . _:e4b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPS"; "Orphanet:3261" . _:e4b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPS (autoimmune lymphoproliferative syndrome)"; "CSP2005:0427-1178", "DOID:6688" . _:e4b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Canale-Smith syndrome"; "DOID:6688", "Orphanet:3261" . _:e4bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAS deficiency"; "Orphanet:3261" . _:e4bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome"; rdfs:comment "preferred label from MONDO" . _:e4bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune lymphoproliferative syndrome type 1, autosomal dominant"; "GARD:0008686" . _:e4c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3261" . a owl:Class; rdfs:subClassOf , , ; "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor."; ; , , , , , ; "Congenital proconvertin deficiency"@en, "Hypoproconvertinemia"@en; "A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity."@en; "orphanet", "orphanet"@en; "DOID:2215", "GARD:0002238", "ICD-10:D68.2", "ICD10:D68.2", "MONDO:0009211", "MedDRA:10016079", "NCIT:C131631", "OMIM:227500", "UMLS:C0015503"; "Congenital proconvertin deficiency", "Hypoproconvertinemia", "congenital factor VII deficiency", "congenital proconvertin deficiency", "deficiency, stable", "hypoproconvertinemia"; "F7 deficiency", "factor 7 deficiency", "factor VII deficiency"; "Orphanet:327"; ; rdfs:label "Congenital factor VII deficiency", "Congenital factor VII deficiency"@en; "ORPHA:327" . _:e4c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor."; "Orphanet:327" . _:e4c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2215"; "MONDO:equivalentTo" . _:e4c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002238"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:e4cad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21505; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21505 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "Attributed"@en . _:e4cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "NTBT (narrower term maps to a broader term)"@en . _:e4cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.2"; "DOID:2215", "ORDO:327/attributed", "ORDO:327/ntbt", "Orphanet:327" . _:e4ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016079"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016079"; "ORDO:327/e", "Orphanet:327" . _:e4d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131631"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.87/0.21" . _:e4d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227500"; "MONDO:equivalentTo", "ORDO:327/e", "Orphanet:327" . _:e4dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015503"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015503"; "DOID:2215", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C131631", "OMIM:227500", "ORDO:327/e", "Orphanet:327" . _:e4e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital factor VII deficiency"; rdfs:comment "preferred label from MONDO" . _:e4e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital proconvertin deficiency"; "Orphanet:327" . _:e4e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency, stable"; "DOID:2215" . _:e4e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoproconvertinemia"; "OMIM:227500", "Orphanet:327" . _:e4ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F7 deficiency"; "OMIM:227500" . _:e4ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor 7 deficiency"; "GARD:0002238", "OMIM:227500" . _:e4edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor VII deficiency"; "OMIM:227500" . _:e4eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:327" . a owl:Class; rdfs:subClassOf ; "A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm."@en; "orphanet"@en; "ICD-10:M31.4", "MeSH:D013625", "MedDRA:10043097", "OMIM:207600", "UMLS:C0039263"; rdfs:label "Takayasu arteritis"@en; "ORPHA:3287" . _:e4f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013625"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043097"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:207600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e4f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039263"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery."; , , , , , , ; "Hemophilia C"@en, "PTA deficiency"@en, "Plasma thromboplastin antecedent deficiency"@en, "Rosenthal factor deficiency"@en, "Rosenthal syndrome"@en; "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery."@en; "orphanet"@en; "COHD:437256", "DOID:2229", "GARD:0009670", "ICD-10:D68.1", "ICD10:D68.1", "ICD9:286.2", "MESH:D005173", "MONDO:0012897", "NCIT:C84705", "OMIM:612416", "SCTID:49762007", "UMLS:C0015523"; "Hemophilia C", "PTA deficiency", "Plasma thromboplastin antecedent deficiency", "Rosenthal factor deficiency", "Rosenthal syndrome", "Rosenthal's disease", "congenital factor XI deficiency", "hemophilia C", "hereditary Factor XI deficiency", "hereditary factor XI deficiency", "hereditary factor XI deficiency disease", "plasma thromboplastin antecedent deficiency"; "F11 deficiency", "factor 11 deficiency", "factor XI deficiency"; "Orphanet:329"; , ; rdfs:label "Congenital factor XI deficiency", "Congenital factor XI deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency"^^xsd:anyURI; "ORPHA:329" . _:e501d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery."; "Orphanet:329" . _:e502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:437256"; "MONDO:equivalentTo" . _:e503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2229"; "MONDO:equivalentTo" . _:e504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009670"; "MONDO:equivalentTo" . _:e505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e506d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21534; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21534 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.1"; "Specific code (The term has its own code in the ICD10)"@en . _:e509d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.1"; "DOID:2229", "ORDO:329/e", "ORDO:329/specific", "Orphanet:329" . _:e50bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286.2"; "DOID:2229", "MONDO:equivalentTo", "i2s" . _:e50fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005173"; "DOID:2229", "MONDO:equivalentTo", "MONDO:ontobio" . _:e510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84705"; "DOID:2229", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.77/0.07" . _:e515d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612416"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612416"; "DOID:2229", "MONDO:equivalentTo", "ORDO:329/e", "Orphanet:329" . _:e517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:49762007"; "DOID:2229", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:e519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015523"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e51ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015523"; "DOID:2229", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84705", "OMIM:612416", "Orphanet:329" . _:e520d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PTA deficiency"; "OMIM:612416", "Orphanet:329" . _:e522d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rosenthal factor deficiency"; "Orphanet:329" . _:e523d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rosenthal syndrome"; "OMIM:612416", "Orphanet:329" . _:e525d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rosenthal's disease"; "DOID:2229", "MTHICD9_2006:286.2" . _:e527d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital factor XI deficiency"; "DOID:2229", "ICD9CM_2006:286.2" . _:e529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital factor XI deficiency"; rdfs:comment "preferred label from MONDO" . _:e52bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia C"; "DOID:2229", "Orphanet:329" . _:e52ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary Factor XI deficiency"; "NCIT:C84705" . _:e52fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary factor XI deficiency"; "MONDO:patterns/hereditary" . _:e531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary factor XI deficiency disease"; "DOID:2229" . _:e532d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "plasma thromboplastin antecedent deficiency"; "DOID:2229", "Orphanet:329" . _:e535d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F11 deficiency"; "OMIM:612416" . _:e537d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor 11 deficiency"; "OMIM:612416" . _:e539d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor XI deficiency"; "OMIM:612416" . _:e53ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009670" . _:e53cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:329" . _:e53ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency"^^xsd:anyURI; "GARD:0009670" . a owl:Class; rdfs:subClassOf , ; , ; "A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior."@en; "orphanet"@en; "ICD-10:E66.8", "ICD10:E66.8", "MONDO:0017994", "UMLS:CN204200"; "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"; "Orphanet:329249"; ; rdfs:label "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency", "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"@en; "ORPHA:329249" . _:e540d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21562; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E66.8"; "Attributed"@en . _:e541d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E66.8"; "NTBT (narrower term maps to a broader term)"@en . _:e542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E66.8"; "ORDO:329249/attributed", "ORDO:329249/ntbt", "Orphanet:329249" . _:e543d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204200"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:e549d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"; rdfs:comment "preferred label from MONDO" . _:e54dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:329249" . a owl:Class; rdfs:subClassOf , , , ; "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)."; ; , , , , , ; ; "Familial Hibernian fever"@en, "TNF receptor 1-associated periodic syndrome"@en, "TRAPS syndrome"@en; "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)."@en; "orphanet", "orphanet"@en; "DOID:0090018", "GARD:0008457", "ICD-10:E85.0", "ICD10:E85.0", "MESH:C536657", "MONDO:0007727", "NCIT:C119051", "OMIM:142680", "SCTID:403833009", "UMLS:C1275126"; "Familial Hibernian fever", "TNF receptor 1 associated periodic syndrome", "TNF receptor 1-associated periodic syndrome", "TRAPS", "TRAPS syndrome", "autosomal dominant familial periodic fever", "familial Hibernian fever", "tumor necrosis factor receptor 1 associated periodic syndrome", "tumor necrosis factor receptor 1-associated periodic syndrome"; "FHF", "FPF", "Hibernian fever, familial", "TNF receptor-associated periodic fever syndrome", "TNF receptor-associated periodic syndrome", "periodic FEVER, familial, autosomal dominant", "tumor necrosis factor receptor-associated periodic syndrome"; "Orphanet:32960"; ; rdfs:label "Tumor necrosis factor receptor 1 associated periodic syndrome", "Tumor necrosis factor receptor 1 associated periodic syndrome"@en; "ORPHA:32960" . _:e54ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)."; "Orphanet:32960" . _:e550d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:0090018" . _:e551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090018"; "MONDO:equivalentTo" . _:e553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008457"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:e556d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21573; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21573 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.0"; "Attributed"@en . _:e559d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.0"; "NTBT (narrower term maps to a broader term)"@en . _:e55ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "DOID:0090018", "ORDO:32960/attributed", "ORDO:32960/ntbt", "Orphanet:32960" . _:e55dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536657"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e560d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C119051"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:142680"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:142680"; "DOID:0090018", "MONDO:equivalentTo", "ORDO:32960/e", "Orphanet:32960" . _:e565d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:403833009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.57" . _:e568d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1275126"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e569d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TNF receptor 1-associated periodic syndrome"; "DOID:0090018", "Orphanet:32960" . _:e56cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRAPS"; "NCIT:C119051" . _:e56ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRAPS syndrome"; "Orphanet:32960" . _:e573d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant familial periodic fever"; rdfs:comment "preferred label from MONDO" . _:e574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial Hibernian fever"; "DOID:0090018", "OMIM:142680", "Orphanet:32960" . _:e577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor necrosis factor receptor 1 associated periodic syndrome"; "DOID:0090018" . _:e582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor necrosis factor receptor 1-associated periodic syndrome"; "NCIT:C119051" . _:e585d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHF"; "GARD:0008457" . _:e587d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FPF"; "OMIM:142680" . _:e589d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hibernian fever, familial"; "OMIM:142680" . _:e58bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TNF receptor-associated periodic fever syndrome"; "GARD:0008457" . _:e58ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TNF receptor-associated periodic syndrome"; "OMIM:142680" . _:e58fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodic FEVER, familial, autosomal dominant"; "OMIM:142680" . _:e590d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor necrosis factor receptor-associated periodic syndrome"; "OMIM:142680" . _:e591d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:32960" . a owl:Class; rdfs:subClassOf ; ; "ICD10:N00.5", "MONDO:0018013", "OMIM:609814", "OMIM:614809"; "C3 glomerulopathy", "Non-Ig-mediated MPGN", "Non-Ig-mediated membranoproliferative glomerulonephritis", "Non-immunoglobulin-mediated MPGN", "non-Ig-mediated MPGN", "non-Ig-mediated membranoproliferative glomerulonephritis", "non-immunoglobulin-mediated MPGN", "non-immunoglobulin-mediated membranoproliferative glomerulonephritis"; "Orphanet:329918"; ; rdfs:label "Non-immunoglobulin-mediated membranoproliferative glomerulonephritis" . _:e592d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N00.5"; "ORDO:329918/attributed", "ORDO:329918/ntbt", "Orphanet:329918" . _:e593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C3 glomerulopathy"; "Orphanet:329918" . _:e594d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-Ig-mediated MPGN"; "Orphanet:329918" . _:e595d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-Ig-mediated membranoproliferative glomerulonephritis"; "Orphanet:329918" . _:e597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-immunoglobulin-mediated MPGN"; "Orphanet:329918" . _:e598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-immunoglobulin-mediated membranoproliferative glomerulonephritis"; rdfs:comment "preferred label from MONDO" . _:e5add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:329918" . a owl:Class; rdfs:subClassOf , ; "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease."; , , , , , ; "ICD-10:N00.5", "ICD10:N00.5", "MONDO:0013892", "NCIT:C123043", "OMIM:614809", "UMLS:C3553720", "UMLS:C4055342", "UMLS:CN187045"; "C3 glomerulonephritis", "complement-mediated membranoproliferative glomerulonephritis"; "CFHR5 deficiency"; "Orphanet:329931"; ; rdfs:label "C3 glomerulonephritis", "C3 glomerulonephritis"@en; "ORPHA:329931" . _:e5b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease."; "NCIT:P378" . _:e5b4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21606; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21606 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N00.5"; "Attributed"@en . _:e5b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N00.5"; "NTBT (narrower term maps to a broader term)"@en . _:e5b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N00.5"; "ORDO:329931/attributed", "ORDO:329931/ntbt", "Orphanet:329931" . _:e5bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123043"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:e5bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614809"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e5bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614809"; "MONDO:equivalentTo", "ORDO:329931/e", "Orphanet:329931" . _:e5bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3553720"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614809" . _:e5c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4055342"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C123043" . _:e5c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN187045"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:e5c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C3 glomerulonephritis"; rdfs:comment "preferred label from MONDO" . _:e5c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complement-mediated membranoproliferative glomerulonephritis"; "NCIT:C123043" . _:e5c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFHR5 deficiency"; "OMIM:614809" . _:e5c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:329931" . a owl:Class; rdfs:subClassOf , ; "Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported.", "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported."; , , , , , , ; "Isovaleric acid CoA dehydrogenase deficiency"@en; "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported."@en; "orphanet", "orphanet"@en; "DOID:14753", "GARD:0000465", "ICD-10:E71.1", "ICD10:E71.1", "ICD10:E71.110", "MESH:C538167", "MONDO:0009475", "MSH:C538167", "MeSH:C538167", "NCIT:C98964", "OMIM:243500", "SCTID:87827003", "UMLS:C0268575"; "Isovaleric acid CoA dehydrogenase deficiency", "Isovalericacidemia", "isovaleric acid CoA dehydrogenase deficiency", "isovaleric acidemia", "isovaleric aciduria", "isovaleryl-CoA dehydrogenase deficiency"; "IVA", "IVD deficiency", "isovaleric acid Coa dehydrogenase deficiency", "isovaleric acidemia; IVA", "isovaleryl CoA carboxylase deficiency"; "Orphanet:33"; , ; rdfs:label "Isovaleric acidemia", "Isovaleric acidemia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia"^^xsd:anyURI; "ORPHA:33" . _:e5cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported."; "Orphanet:33" . _:e5cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14753"; "MONDO:equivalentTo" . _:e5d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000465"; "MONDO:equivalentTo" . _:e5d2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21623; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21623 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:e5d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "NTBT (narrower term maps to a broader term)"@en . _:e5d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "ORDO:33/inclusion", "ORDO:33/ntbt", "Orphanet:33" . _:e5d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.110"; "DOID:14753", "MONDO:equivalentTo" . _:e5dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538167"; "DOID:14753", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:33/e", "Orphanet:33" . _:e5ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538167"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e5ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98964"; "DOID:14753", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:e5dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:243500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e5e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:243500"; "DOID:14753", "MONDO:equivalentTo", "ORDO:33/e", "Orphanet:33" . _:e5e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:87827003"; "DOID:14753", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/11.67" . _:e5e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268575"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e5e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268575"; "DOID:14753", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C98964", "OMIM:243500", "ORDO:33/e", "Orphanet:33" . _:e5e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Isovalericacidemia"; "NCIT:C98964" . _:e5e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isovaleric acid CoA dehydrogenase deficiency"; "DOID:14753", "Orphanet:33" . _:e5e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isovaleric acidemia"; "MONDO:Lexical", "OMIM:243500" . _:e5e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isovaleric acidemia"; rdfs:comment "preferred label from MONDO" . _:e5e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isovaleric aciduria"; "DOID:14753" . _:e5e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isovaleryl-CoA dehydrogenase deficiency"; "NCIT:C98964" . _:e5ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IVA"; "MONDO:Lexical", "OMIM:243500" . _:e5edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IVD deficiency"; "OMIM:243500" . _:e5efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isovaleric acid Coa dehydrogenase deficiency"; "OMIM:243500" . _:e5f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isovaleric acidemia; IVA"; "OMIM:243500" . _:e5f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isovaleryl CoA carboxylase deficiency"; "GARD:0000465" . _:e5f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000465" . _:e5f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:33" . _:e5f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia"^^xsd:anyURI; "GARD:0000465" . a owl:Class; rdfs:subClassOf , , , ; ; "Orphanet:102284"; "Genetic MCA/variable MR", "Genetic multiple congenital anomalies - variable intellectual disability with or without dysmorphism", "MCA/variable MR", "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome", "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"; "Orphanet:330197"; ; rdfs:label "Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability" . _:e5fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:102284"; "MONDO:equivalentTo" . _:e5fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCA/variable MR"; "Orphanet:102284" . _:e5fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"; "Orphanet:102284" . _:e5ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"; rdfs:comment "preferred label from MONDO" . _:e601d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102284" . a owl:Class; rdfs:subClassOf , ; "An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome."; ; "MONDO:0043008"; "Genetic MCA", "Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)", "genetic MCA", "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)", "genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability", "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability"; "Orphanet:330206"; ; rdfs:label "Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability" . _:e605d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:e607d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic MCA"; "Orphanet:330206" . _:e609d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)"; "Orphanet:330206" . _:e60bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability"; rdfs:comment "preferred label from MONDO" . _:e60cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability"; "MONDO:patterns/hereditary" . a owl:Class; rdfs:subClassOf ; "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy."@en; "orphanet"@en; "ICD-10:Q21.3", "MeSH:D013771", "MedDRA:10016193", "OMIM:187500", "UMLS:C0039685"; rdfs:label "Tetralogy of Fallot"@en; "ORPHA:3303" . _:e60fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q21.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013771"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e614d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016193"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e616d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:187500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e61ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039685"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment."; "Gautier Koscielny"; , , , , , ; "DS"@en, "SMEI"@en, "Severe myoclonic epilepsy of infancy"@en, "Severe myoclonus epilepsy of infancy"@en; "Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment."@en; "orphanet", "orphanet"@en; "DOID:0060171", "GARD:0010430", "ICD-10:G40.4", "ICD10:G40.4", "ICD9:345.10", "MONDO:0011794", "MSH:D004831", "NCIT:C116573", "OMIM:607208", "OMIM:612164", "OMIM:615744", "SCTID:230437002", "UMLS:C0751122"; "DS", "Dravet syndrome", "SMEI", "Severe myoclonic epilepsy of infancy", "Severe myoclonus epilepsy of infancy", "epileptic encephalopathy, early infantile, type 6", "severe myoclonic epilepsy in infancy", "severe myoclonic epilepsy of infancy", "severe myoclonus epilepsy of infancy"; "EIEE6", "SME", "epileptic encephalopathy, early infantile, 6", "epileptic encephalopathy, early infantile, 6; EIEE6", "myoclonic epilepsy, severe, of infancy"; "Orphanet:33069"; , ; rdfs:comment "This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745"; rdfs:label "Dravet syndrome", "Dravet syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome"^^xsd:anyURI; "ORPHA:33069" . _:e628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment."; "Orphanet:33069" . _:e629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e62ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060171"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e62bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060171"; "MONDO:equivalentTo" . _:e62dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010430"; "MONDO:equivalentTo" . _:e62ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21670; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21670 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "Attributed"@en . _:e62fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.4"; "NTBT (narrower term maps to a broader term)"@en . _:e630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.4"; "ORDO:33069/attributed", "ORDO:33069/ntbt", "Orphanet:33069" . _:e631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:345.10"; "MONDO:relatedTo", "i2s" . _:e632d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D004831"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C116573"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607208"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607208"; "DOID:0060171", "MONDO:equivalentTo", "ORDO:33069/e", "Orphanet:33069" . _:e63bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612164"; "BTNT (broader term maps to a narrower term)"@en . _:e63dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615744"; "BTNT (broader term maps to a narrower term)"@en . _:e640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615744"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:e643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230437002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e645d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751122"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751122"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C116573", "OMIM:607208", "Orphanet:33069" . _:e647d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DS"; "Orphanet:33069" . _:e648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dravet syndrome"; "OMIM:607208" . _:e649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dravet syndrome"; rdfs:comment "preferred label from MONDO" . _:e64ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMEI"; "DOID:0060171", "Orphanet:33069" . _:e64bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epileptic encephalopathy, early infantile, type 6"; "MONDORULE:1", "OMIM:607208" . _:e64cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe myoclonic epilepsy in infancy"; "DOID:0060171" . _:e64dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe myoclonic epilepsy of infancy"; "OMIM:607208", "Orphanet:33069" . _:e64ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe myoclonus epilepsy of infancy"; "Orphanet:33069" . _:e64fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EIEE6"; "MONDO:Lexical", "OMIM:607208" . _:e650d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SME"; "GARD:0010430" . _:e651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epileptic encephalopathy, early infantile, 6"; "MONDO:Lexical", "OMIM:607208" . _:e653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epileptic encephalopathy, early infantile, 6; EIEE6"; "OMIM:607208" . _:e655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myoclonic epilepsy, severe, of infancy"; "GARD:0010430" . _:e658d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010430" . _:e65ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:33069" . _:e65bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome"^^xsd:anyURI; "GARD:0010430" . a owl:Class; rdfs:subClassOf , , ; "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies."; , , ; , , , , ; "Fibrin-stabilizing factor deficiency"@en; "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies."@en; "orphanet"@en; "fibrin-stabilizing factor deficiency"; "DOID:2211", "GARD:0010766", "ICD-10:D68.2", "ICD10:D68.2", "ICD9:286.3", "MESH:D005177", "MONDO:0018029", "NCIT:C131633", "OMIM:613225", "OMIM:613235", "SCTID:50189006", "UMLS:C0015530"; "Fibrin-stabilizing factor deficiency", "congenital factor XIII deficiency", "deficiency, Laki-Lorand factor", "factor XIII deficiency disease", "hereditary factor XIII deficiency disease"; "factor XIII deficiency", "fibrin stabilizing factor deficiency"; "Orphanet:331"; ; rdfs:label "Congenital factor XIII deficiency", "Congenital factor XIII deficiency"@en; "ORPHA:331" . _:e65fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies."; "Orphanet:331" . _:e661d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fibrin-stabilizing factor deficiency"; "Orphanet:331" . _:e671d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2211"; "MONDO:equivalentTo" . _:e674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010766"; "MONDO:equivalentTo", "Orphanet-shared" . _:e676d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21705; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21705 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "Attributed"@en . _:e678d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "NTBT (narrower term maps to a broader term)"@en . _:e67ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.2"; "ORDO:331/attributed", "ORDO:331/ntbt", "Orphanet:331" . _:e67dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286.3"; "MONDO:relatedTo", "i2s" . _:e67fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005177"; "DOID:2211", "MONDO:equivalentTo", "MONDO:ontobio" . _:e682d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131633"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:e684d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613225"; "BTNT (broader term maps to a narrower term)"@en . _:e685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613235"; "BTNT (broader term maps to a narrower term)"@en . _:e688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:50189006"; "DOID:2211", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.76/0.31" . _:e689d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015530"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e68ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital factor XIII deficiency"; rdfs:comment "preferred label from MONDO" . _:e68bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency, Laki-Lorand factor"; "DOID:2211", "MTHICD9_2006:286.3" . _:e68cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor XIII deficiency disease"; "DOID:2211" . _:e68dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary factor XIII deficiency disease"; "DOID:2211" . _:e68ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor XIII deficiency"; "DOID:2211" . _:e68fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fibrin stabilizing factor deficiency"; "GARD:0010766" . _:e690d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331" . a owl:Class; rdfs:subClassOf , ; "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea."; ; , , ; "Agammaglobulinemia, non-Bruton type"@en; "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea."@en; "orphanet", "orphanet"@en; "GARD:0009640", "ICD-10:D80.0", "ICD10:D80.0", "MESH:C538056", "MONDO:0011096", "OMIM:601495", "OMIM:612692", "OMIM:613500", "OMIM:613501", "OMIM:613502", "OMIM:613506", "OMIM:615214", "OMIM:616941", "UMLS:C1832241"; "AGM", "Agammaglobulinemia, non-Bruton type", "agammaglobulinemia, non-Bruton type", "autosomal agammaglobulinemia"; "agammaglobulinemia, autosomal recessive, due to IGHM defect"; "Orphanet:33110"; ; rdfs:label "Autosomal agammaglobulinemia", "Autosomal agammaglobulinemia"@en; "ORPHA:33110" . _:e693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea."; "Orphanet:33110" . _:e696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009640"; "MONDO:equivalentTo", "Orphanet-shared" . _:e698d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21725; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21725 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:e699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.0"; "NTBT (narrower term maps to a broader term)"@en . _:e69cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.0"; "ORDO:33110/inclusion", "ORDO:33110/ntbt", "Orphanet:33110" . _:e69fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538056"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e6a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601495"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e6a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612692"; "BTNT (broader term maps to a narrower term)"@en . _:e6a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613500"; "BTNT (broader term maps to a narrower term)"@en . _:e6a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613501"; "BTNT (broader term maps to a narrower term)"@en . _:e6a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613502"; "BTNT (broader term maps to a narrower term)"@en . _:e6a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613506"; "BTNT (broader term maps to a narrower term)"@en . _:e6aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615214"; "BTNT (broader term maps to a narrower term)"@en . _:e6acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616941"; "BTNT (broader term maps to a narrower term)"@en . _:e6aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832241"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e6b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832241"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "Orphanet:33110" . _:e6b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGM"; "MONDO:cjm" . _:e70bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agammaglobulinemia, non-Bruton type"; "Orphanet:33110" . _:e70cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal agammaglobulinemia"; rdfs:comment "preferred label from MONDO" . _:e70dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agammaglobulinemia, autosomal recessive, due to IGHM defect"; "OMIM:601495" . _:e70ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:33110" . a owl:Class; rdfs:subClassOf ; "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin."@en; "orphanet"@en; "ICD-10:C84.0", "UMLS:C0376407", "UMLS:C0457002"; rdfs:label "Granulomatous slack skin"@en; "ORPHA:33111" . _:e70fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C84.0"; "NTBT (narrower term maps to a broader term)"@en . _:e710d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0376407"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e711d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0457002"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , ; , , ; "SCN4"@en, "Severe congenital neutropenia type 4"@en, "Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"@en; "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated."@en; "orphanet"@en; "ICD-10:D70", "ICD10:D70", "MONDO:0012930", "OMIM:612541", "UMLS:C2675526"; "SCN4", "Severe congenital neutropenia - pulmonary hypertension - superficial venous angiectasis", "Severe congenital neutropenia type 4", "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency", "severe congenital neutropenia type 4", "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"; "Dursun syndrome", "neutropenia, severe congenital, 4, autosomal recessive", "neutropenia, severe congenital, 4, autosomal recessive; SCN4", "pulmonary arterial hypertension, leukopenia, and atrial septal defect"; "Orphanet:331176"; ; rdfs:label "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency", "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"@en; "ORPHA:331176" . _:e719d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21748; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21748 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Attributed"@en . _:e71dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:e71fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70"; "MONDO:subClassOf", "ORDO:331176/attributed", "ORDO:331176/ntbt", "Orphanet:331176" . _:e722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612541"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e723d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612541"; "MONDO:equivalentTo", "ORDO:331176/e", "Orphanet:331176" . _:e725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2675526"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e727d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2675526"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:612541", "Orphanet:331176" . _:e72ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCN4"; "MONDO:Lexical", "OMIM:612541", "Orphanet:331176" . _:e72cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"; rdfs:comment "preferred label from MONDO" . _:e72dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia type 4"; "Orphanet:331176" . _:e72fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"; "Orphanet:331176" . _:e733d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dursun syndrome"; "OMIM:612541" . _:e734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia, severe congenital, 4, autosomal recessive"; "MONDO:Lexical", "OMIM:612541" . _:e735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia, severe congenital, 4, autosomal recessive; SCN4"; "OMIM:612541" . _:e736d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary arterial hypertension, leukopenia, and atrial septal defect"; "OMIM:612541" . _:e737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331176" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0018032"; "constitutional neutropenia with extra-hematopoietic manifestations"; "Orphanet:331184"; ; rdfs:label "Constitutional neutropenia with extra-haematopoietic manifestations" . _:e738d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional neutropenia with extra-hematopoietic manifestations"; rdfs:comment "preferred label from MONDO" . _:e739d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331184" . a owl:Class; rdfs:subClassOf , ; , , , ; "Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear."@en; "orphanet"@en; "ICD-10:D84.1", "ICD10:D84.1", "MONDO:0013467", "OMIM:613860", "SCTID:766705006", "UMLS:C3151226"; "immunodeficiency due to ficolin3 deficiency"; "Fcn3 deficiency", "ficolin 3 deficiency", "immunodeficiency due to ficolin 3 deficiency", "lectin complement activation pathway, defect in, 3"; "Orphanet:331190"; ; rdfs:label "Immunodeficiency due to ficolin3 deficiency", "Immunodeficiency due to ficolin3 deficiency"@en; "ORPHA:331190" . _:e746d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21767; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21767 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Attributed"@en . _:e749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:e74bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:331190/attributed", "ORDO:331190/ntbt", "Orphanet:331190" . _:e74ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613860"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613860"; "MONDO:equivalentTo", "ORDO:331190/e", "Orphanet:331190" . _:e754d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:766705006"; "MONDO:equivalentTo" . _:e75cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151226"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613860" . _:e75dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to ficolin3 deficiency"; rdfs:comment "preferred label from MONDO" . _:e75ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fcn3 deficiency"; "OMIM:613860" . _:e75fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ficolin 3 deficiency"; "OMIM:613860" . _:e760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to ficolin 3 deficiency"; "OMIM:613860" . _:e761d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lectin complement activation pathway, defect in, 3"; "OMIM:613860" . _:e762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331190" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018033", "UMLS:CN204276"; "other immunodeficiency syndromes due to defects in innate immunity"; "Orphanet:331193"; , ; rdfs:comment "Editor note: consider merging"; rdfs:label "Other immunodeficiency syndromes due to defects in innate immunity" . _:e768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204276"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:e769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "other immunodeficiency syndromes due to defects in innate immunity"; rdfs:comment "preferred label from MONDO" . _:e76ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331193" . a owl:Class; rdfs:subClassOf , ; "SCID due to complete RAG1/2 deficiency"@en; "Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia."@en; "orphanet"@en; "ICD-10:D81.1", "ICD10:D81.1", "OMIM:601457", "UMLS:C1832322"; "SCID due to complete RAG1/2 deficiency"; rdfs:label "Severe combined immunodeficiency due to complete RAG1/2 deficiency", "Severe combined immunodeficiency due to complete RAG1/2 deficiency"@en; "ORPHA:331206" . _:e76ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21784; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21784 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "Attributed"@en . _:e771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.1"; "NTBT (narrower term maps to a broader term)"@en . _:e773d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601457"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e77dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832322"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Other immunodeficiency syndrome due to defects in adaptive immunity", "Syndrome with combined immunodeficiency"@en; "ORPHA:331217" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:D81.4", "MONDO:0018036"; "immunodeficiency due to absence of thymus"; "Orphanet:331220"; ; rdfs:label "Immunodeficiency due to absence of thymus" . _:e781d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.4"; "ORDO:331220/attributed", "ORDO:331220/ntbt", "Orphanet:331220" . _:e784d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to absence of thymus"; rdfs:comment "preferred label from MONDO" . _:e786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331220" . a owl:Class; rdfs:subClassOf , , ; "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections."; ; , , ; "GARD:0010956", "ICD-10:D82.4", "ICD10:D82.4", "MONDO:0018037", "NCIT:C3144", "UMLS:C3887645", "UMLS:CN204280"; "hyper-IgE syndrome", "hyperimmunoglobulin E syndrome"; "HIES", "hyper-IgE recurrent infection syndrome", "hyperimmunoglobulin E syndrome"; "Orphanet:331223"; , ; rdfs:label "Hyper-IgE syndrome", "Hyper-IgE syndrome"@en; "ORPHA:331223" . _:e78cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections."; "NCIT:C3144" . _:e78dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010956"; "MONDO:equivalentTo" . _:e78ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e78fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21795; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21795 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.4"; "Specific code (The term has its own code in the ICD10)"@en . _:e790d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D82.4"; "ORDO:331223/e", "ORDO:331223/specific", "Orphanet:331223" . _:e791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3144"; "MONDO:equivalentTo" . _:e792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3887645"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204280"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:e794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper-IgE syndrome"; rdfs:comment "preferred label from MONDO" . _:e795d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperimmunoglobulin E syndrome"; "NCIT:C3144" . _:e796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIES"; "GARD:0010956" . _:e797d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper-IgE recurrent infection syndrome"; "GARD:0010956" . _:e798d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperimmunoglobulin E syndrome"; "GARD:0010956" . _:e799d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331223" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0018038"; "immunodeficiency with isotype or light chain deficiencies with normal number of B-cells"; "Orphanet:331232"; ; rdfs:label "Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells" . _:e79ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency with isotype or light chain deficiencies with normal number of B-cells"; rdfs:comment "preferred label from MONDO" . _:e79bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331232" . a owl:Class; rdfs:subClassOf , , ; "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M ( IgM ) , normal levels of other immunoglobulins , and recurrent infections (especially by Staphylococcus aureus , Streptococcus pneumoniae , Hemophilus influenza ). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines , people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement ."; , , ; "Selective immunoglobulin M deficiency"@en; "COHD:434893", "DOID:0050222", "GARD:0012547", "ICD-10:D80.4", "ICD10:D80.4", "ICD9:279.02", "MONDO:0018039", "SCTID:190980000"; "Selective immunoglobulin M deficiency", "selective IgM deficiency", "selective IgM deficiency disease", "selective immunoglobulin M deficiency"; "SIgMD"; "Orphanet:331235"; , ; rdfs:label "Selective IgM deficiency", "Selective IgM deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency"^^xsd:anyURI; "ORPHA:331235" . _:e7a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M ( IgM ) , normal levels of other immunoglobulins , and recurrent infections (especially by Staphylococcus aureus , Streptococcus pneumoniae , Hemophilus influenza ). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines , people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement ."; "https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency" . _:e7a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434893"; "MONDO:equivalentTo" . _:e7a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050222"; "MONDO:equivalentTo" . _:e7a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012547"; "MONDO:equivalentTo" . _:e7a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e7a7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21814; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21814 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.4"; "Specific code (The term has its own code in the ICD10)"@en . _:e7aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.4"; "ORDO:331235/e", "ORDO:331235/specific", "Orphanet:331235" . _:e7add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.02"; "MONDO:equivalentTo", "i2s" . _:e7b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190980000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e7b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective IgM deficiency"; rdfs:comment "preferred label from MONDO" . _:e7b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective IgM deficiency disease"; "MONDO:0000289" . _:e7b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective immunoglobulin M deficiency"; "Orphanet:331235" . _:e7b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIgMD"; "GARD:0012547" . _:e7bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012547" . _:e7bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331235" . _:e7bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency"^^xsd:anyURI; "GARD:0012547" . a owl:Class; rdfs:subClassOf , , , ; , ; "MONDO:0018042", "UMLS:CN204283"; "immunodeficiency syndrome with abnormal pigmentation"; "immunodeficiency syndrome with hypopigmentation"; "Orphanet:331249"; ; rdfs:label "Immunodeficiency syndrome with hypopigmentation" . _:e7c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204283"; "MONDO:equivalentTo" . _:e7cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency syndrome with abnormal pigmentation"; rdfs:comment "preferred label from MONDO" . _:e7ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency syndrome with hypopigmentation"; "Orphanet:331249" . _:e7cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:331249" . a owl:Class; rdfs:subClassOf ; "ET"@en, "Essential thrombocytosis"@en; "Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage."@en; "orphanet"@en; "ICD-10:D47.3", "MeSH:D013920", "MedDRA:10015493", "OMIM:187950", "OMIM:601977", "OMIM:614521", "UMLS:C0040028"; rdfs:label "Essential thrombocythemia"@en; "ORPHA:3318" . _:e7d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e7dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013920"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e7dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10015493"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e7dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:187950"; "NTBT (narrower term maps to a broader term)"@en . _:e7ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601977"; "NTBT (narrower term maps to a broader term)"@en . _:e7ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614521"; "NTBT (narrower term maps to a broader term)"@en . _:e7dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040028"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Primary hypersomnia"@en; "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time."@en; "orphanet"@en; "ICD-10:F51.1", "UMLS:C0751757"; rdfs:label "Idiopathic hypersomnia"@en; "ORPHA:33208" . _:e7e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F51.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e7e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751757"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia."; , , , ; "Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome"@en; "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia."@en; "orphanet", "orphanet"@en; "GARD:0000346", "ICD-10:D61.0", "ICD10:D61.0", "MESH:C536068", "MONDO:0018045", "MSH:C536068", "MeSH:C536068", "OMIM:305000", "OMIM:613989", "OMIM:613990", "OMIM:615190", "OMIM:616353", "OMIM:616553", "SCTID:707276009", "UMLS:C1846142"; "Hoyeraal-Hreidarsson syndrome", "Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia", "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome"; "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia", "Hoyeraal Hreidarsson syndrome"; "Orphanet:3322"; ; rdfs:comment "Editor note: consider merge with MONDO:0010584"; rdfs:label "Hoyeraal-Hreidarsson syndrome", "Hoyeraal-Hreidarsson syndrome"@en; "ORPHA:3322" . _:e7e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia."; "Orphanet:3322" . _:e7ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000346"; "MONDO:equivalentTo", "Orphanet-shared" . _:e7edd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21841; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21841 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D61.0"; "Attributed"@en . _:e7f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D61.0"; "NTBT (narrower term maps to a broader term)"@en . _:e7f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D61.0"; "MONDO:subClassOf", "ORDO:3322/attributed", "ORDO:3322/ntbt", "Orphanet:3322" . _:e7f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536068"; "MONDO:equivalentTo", "ORDO:3322/e", "Orphanet:3322" . _:e7f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536068"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e7fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:305000"; "NTBT (narrower term maps to a broader term)"@en . _:e7fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613989"; "BTNT (broader term maps to a narrower term)"@en . _:e7fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613990"; "BTNT (broader term maps to a narrower term)"@en . _:e800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615190"; "BTNT (broader term maps to a narrower term)"@en . _:e801d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616353"; "BTNT (broader term maps to a narrower term)"@en . _:e802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616553"; "BTNT (broader term maps to a narrower term)"@en . _:e803d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:707276009"; "MONDO:equivalentTo" . _:e804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1846142"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e805d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1846142"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:3322/e", "Orphanet:3322" . _:e806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hoyeraal-Hreidarsson syndrome"; rdfs:comment "preferred label from MONDO" . _:e807d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome"; "Orphanet:3322" . _:e808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia"; "GARD:0000346" . _:e809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hoyeraal Hreidarsson syndrome"; "GARD:0000346" . _:e80ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3322" . a owl:Class; rdfs:subClassOf , ; "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait."; , , , , , ; "Cutler-Bass-Romshe syndrome"@en; "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait."@en; "orphanet"@en; "GARD:0005203", "MESH:C536908", "MONDO:0010128", "OMIM:274240", "SCTID:733096007", "UMLS:C1848813", "UMLS:C4518579"; "Cutler-Bass-Romshe syndrome", "cutler-Bass-Romshe syndrome", "thyrocerebrorenal syndrome"; "THYROCEREBRORETINAL syndrome", "Thyrocerebral-retinal syndrome"; "Orphanet:3327"; ; rdfs:label "Thyrocerebrorenal syndrome", "Thyrocerebrorenal syndrome"@en; "ORPHA:3327" . _:e80bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait."; "Orphanet:3327" . _:e80ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005203"; "MONDO:equivalentTo", "OMIM-shared" . _:e810d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536908"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e812d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:274240"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e814d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:274240"; "MONDO:equivalentTo", "ORDO:3327/e", "Orphanet:3327" . _:e815d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:733096007"; "MONDO:equivalentTo" . _:e816d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1848813"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e817d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1848813"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:274240", "Orphanet:3327" . _:e818d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4518579"; "MEDGEN:kboom-pr95-c96", "MONDO:equivalentTo" . _:e819d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cutler-Bass-Romshe syndrome"; "Orphanet:3327" . _:e81ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyrocerebrorenal syndrome"; rdfs:comment "preferred label from MONDO" . _:e81bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THYROCEREBRORETINAL syndrome"; "OMIM:274240" . _:e81dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Thyrocerebral-retinal syndrome"; "GARD:0005203" . _:e81ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3327" . a owl:Class; rdfs:subClassOf , , , ; "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia."; ; ; "Aplasia of tibia with split-hand/split-foot deformity"@en, "SHFLD syndrome"@en, "SHFM associated with aplasia of long bones"@en, "Split hand/foot malformation with long bone deficiency"@en, "Split-hand/foot malformation associated with aplasia of long bones"@en, "TH-SHFM"@en, "Tibial hemimelia with split hand/foot malformation"@en, "Tibial hemimelia-ectrodactyly syndrome"@en; "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia."@en; "orphanet"@en; "GARD:0001369", "ICD-10:Q73.8", "ICD10:Q73.8", "MONDO:0018050", "OMIM:119100", "OMIM:610685", "OMIM:612576", "UMLS:C1861553"; "Aplasia of tibia with split-hand/split-foot deformity", "SHFLD syndrome", "SHFM associated with aplasia of long bones", "Split hand/foot malformation with long bone deficiency", "Split-hand/foot malformation associated with aplasia of long bones", "TH-SHFM", "Tibial hemimelia with split hand/foot malformation", "Tibial hemimelia-ectrodactyly syndrome", "aplasia of tibia with split-hand/split-foot deformity", "split hand/foot malformation with long bone deficiency", "split-hand/foot malformation associated with aplasia of long bones", "tibial aplasia-ectrodactyly syndrome", "tibial hemimelia with split hand/foot malformation", "tibial hemimelia-ectrodactyly syndrome"; "SHFLD", "aplasia of tibia with ectrodactyly", "ectrodactyly with aplasia of long bones", "split-hand/foot malformation with long bone deficiency", "tibial aplasia with split-hand/split-foot deformity"; "Orphanet:3329"; , ; rdfs:label "Tibial aplasia - ectrodactyly", "Tibial aplasia-ectrodactyly syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia"^^xsd:anyURI; "ORPHA:3329" . _:e866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia."; "Orphanet:3329" . _:e867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001369"; "MONDO:equivalentTo" . _:e868d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21877; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21877 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.8"; "Attributed"@en . _:e86bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.8"; "NTBT (narrower term maps to a broader term)"@en . _:e86cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q73.8"; "ORDO:3329/attributed", "ORDO:3329/ntbt", "Orphanet:3329" . _:e870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:119100"; "BTNT (broader term maps to a narrower term)"@en . _:e872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610685"; "BTNT (broader term maps to a narrower term)"@en . _:e874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612576"; "BTNT (broader term maps to a narrower term)"@en . _:e875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1861553"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHFLD syndrome"; "Orphanet:3329" . _:e877d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHFM associated with aplasia of long bones"; "Orphanet:3329" . _:e878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TH-SHFM"; "Orphanet:3329" . _:e879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aplasia of tibia with split-hand/split-foot deformity"; "Orphanet:3329" . _:e87ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split hand/foot malformation with long bone deficiency"; "Orphanet:3329" . _:e87bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split-hand/foot malformation associated with aplasia of long bones"; "Orphanet:3329" . _:e87cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tibial aplasia-ectrodactyly syndrome"; rdfs:comment "preferred label from MONDO" . _:e87dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tibial hemimelia with split hand/foot malformation"; "Orphanet:3329" . _:e87ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tibial hemimelia-ectrodactyly syndrome"; "Orphanet:3329" . _:e87fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHFLD"; "GARD:0001369" . _:e880d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aplasia of tibia with ectrodactyly"; "GARD:0001369" . _:e881d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectrodactyly with aplasia of long bones"; "GARD:0001369" . _:e882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "split-hand/foot malformation with long bone deficiency"; "GARD:0001369" . _:e883d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tibial aplasia with split-hand/split-foot deformity"; "GARD:0001369" . _:e887d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3329" . _:e889d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia"^^xsd:anyURI; "GARD:0001369" . a owl:Class; rdfs:subClassOf , , ; "Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands."; , , ; "Werner mesomelic syndrome"@en; "Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands."@en; "orphanet"@en; "ICD-10:Q74.8", "ICD10:Q74.8", "MONDO:0018052", "OMIM:188740", "SCTID:716741008", "UMLS:CN204341"; "Werner mesomelic syndrome", "hypoplastic tibiae-postaxial polydactyly syndrome"; "Orphanet:3332"; ; rdfs:label "Hypoplastic tibiae - postaxial polydactyly", "Hypoplastic tibiae-postaxial polydactyly syndrome"@en; "ORPHA:3332" . _:e88dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands."; "Orphanet:3332" . _:e88ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21902; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q74.8"; "Attributed"@en . _:e88fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q74.8"; "NTBT (narrower term maps to a broader term)"@en . _:e891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q74.8"; "ORDO:3332/attributed", "ORDO:3332/ntbt", "Orphanet:3332" . _:e894d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188740"; "NTBT (narrower term maps to a broader term)"@en . _:e895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716741008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/10.36" . _:e899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204341"; "MONDO:equivalentTo" . _:e89bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Werner mesomelic syndrome"; "Orphanet:3332" . _:e89fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoplastic tibiae-postaxial polydactyly syndrome"; rdfs:comment "preferred label from MONDO" . _:e8a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3332" . a owl:Class; rdfs:subClassOf , , ; "Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine , fructose , galactose , or glycogen , are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration ), weakness, and abnormalities of the bones."; , ; "Primary Fanconi renotubular syndrome"@en; "GARD:0009118", "ICD-10:E72.0", "ICD10:E72.0", "MONDO:0007600", "NCIT:C123229", "OMIM:134600", "OMIM:613388", "OMIM:615605"; "Primary Fanconi renotubular syndrome", "primary Fanconi renotubular syndrome", "primary Fanconi syndrome"; "FRTS1", "Fanconi renotubular syndrome 1"; "Orphanet:3337"; , ; rdfs:comment "Editor note: TODO, consider merge with parent"; rdfs:label "Primary Fanconi syndrome", "Primary Fanconi syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome"^^xsd:anyURI; "ORPHA:3337" . _:e8a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine , fructose , galactose , or glycogen , are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration ), weakness, and abnormalities of the bones."; "https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome" . _:e8aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009118"; "MONDO:equivalentTo" . _:e8add a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21914; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21914 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:e8b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "NTBT (narrower term maps to a broader term)"@en . _:e8b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.0"; "ORDO:3337/inclusion", "ORDO:3337/ntbt", "Orphanet:3337" . _:e8bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123229"; "MONDO:equivalentTo" . _:e8bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:134600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e8bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613388"; "BTNT (broader term maps to a narrower term)"@en . _:e8bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615605"; "BTNT (broader term maps to a narrower term)"@en . _:e8c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary Fanconi renotubular syndrome"; "Orphanet:3337" . _:e8c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary Fanconi syndrome"; rdfs:comment "preferred label from MONDO" . _:e8c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FRTS1"; "MONDO:Lexical", "OMIM:134600" . _:e8c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi renotubular syndrome 1"; "MONDO:Lexical", "OMIM:134600" . _:e8c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009118" . _:e8c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3337" . _:e8cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome"^^xsd:anyURI; "GARD:0009118" . a owl:Class; rdfs:subClassOf ; "Childhood-onset HCC"@en, "Childhood-onset hepatocellular carcinoma"@en, "Pediatric HCC"@en; "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age."@en; "orphanet"@en; "ICD-10:C22.0"; rdfs:label "Pediatric hepatocellular carcinoma"@en; "ORPHA:33402" . _:e8cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C22.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)."; ; ; "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)."@en; "orphanet"@en; "GARD:0002320", "ICD-10:D68.2", "ICD10:D68.2", "MONDO:0018060", "OMIM:202400", "OMIM:616004"; "congenital fibrinogen deficiency"; "fibrinogen deficiency, congenital"; "Orphanet:335"; , ; rdfs:label "Congenital fibrinogen deficiency", "Congenital fibrinogen deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital"^^xsd:anyURI; "ORPHA:335" . _:e8d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)."; "Orphanet:335" . _:e8d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002320"; "MONDO:equivalentTo" . _:e8d7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21932; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "Attributed"@en . _:e8d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "NTBT (narrower term maps to a broader term)"@en . _:e8d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.2"; "ORDO:335/attributed", "ORDO:335/ntbt", "Orphanet:335" . _:e8dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202400"; "BTNT (broader term maps to a narrower term)"@en . _:e8ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616004"; "BTNT (broader term maps to a narrower term)"@en . _:e8dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital fibrinogen deficiency"; rdfs:comment "preferred label from MONDO" . _:e8e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fibrinogen deficiency, congenital"; "GARD:0002320" . _:e8e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002320" . _:e8e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:335" . _:e8e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital"^^xsd:anyURI; "GARD:0002320" . a owl:Class; rdfs:subClassOf ; "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances."@en; "orphanet"@en; "ICD-10:G47.8", "MeSH:D017593", "MedDRA:10053712", "OMIM:148840", "UMLS:C0206085"; rdfs:label "Kleine-Levin syndrome"@en; "ORPHA:33543" . _:e8e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G47.8"; "NTBT (narrower term maps to a broader term)"@en . _:e8f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017593"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e8f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053712"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e8f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:148840"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e8f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206085"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation."; , , , ; "Patau syndrome"@en; "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation."@en; "orphanet"@en; "GARD:0007341", "ICD-10:Q91.4", "ICD-10:Q91.5", "ICD-10:Q91.6", "ICD-10:Q91.7", "ICD10:Q91.4", "ICD10:Q91.5", "ICD10:Q91.6", "ICD10:Q91.7", "MONDO:0018068", "MedDRA:10044686", "NCIT:C36529", "UMLS:C0152095", "UMLS:C2936830"; "Patau syndrome", "trisomy 13", "trisomy type 13"; "D trisomy syndrome (formerly)", "Patau syndrome", "chromosome 13, trisomy 13 complete"; "Orphanet:3378"; ; rdfs:label "Trisomy 13", "Trisomy 13"@en; "ORPHA:3378" . _:e8fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation."; "Orphanet:3378" . _:e8ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007341"; "MONDO:equivalentTo", "Orphanet-shared" . _:e900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.4"; "BTNT (broader term maps to a narrower term)"@en . _:e905d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21951; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21951 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.4"; "Specific code (The term has its own code in the ICD10)"@en . _:e906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.5"; "BTNT (broader term maps to a narrower term)"@en . _:e90ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.5"; "Specific code (The term has its own code in the ICD10)"@en . _:e90bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.6"; "BTNT (broader term maps to a narrower term)"@en . _:e90cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.6"; "Specific code (The term has its own code in the ICD10)"@en . _:e90dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.7"; "BTNT (broader term maps to a narrower term)"@en . _:e90ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.7"; "Specific code (The term has its own code in the ICD10)"@en . _:e910d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q91.4"; "ORDO:3378/btnt", "ORDO:3378/specific", "Orphanet:3378" . _:e913d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q91.5"; "ORDO:3378/btnt", "ORDO:3378/specific", "Orphanet:3378" . _:e917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q91.6"; "ORDO:3378/btnt", "ORDO:3378/specific", "Orphanet:3378" . _:e918d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q91.7"; "ORDO:3378/btnt", "ORDO:3378/specific", "Orphanet:3378" . _:e91bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10044686"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e91cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10044686"; "ORDO:3378/e", "Orphanet:3378" . _:e91fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C36529"; "MONDO:equivalentTo", "MONDO:otherHierarchy", "kboom:pr0.85-conf12.42" . _:e920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152095"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936830"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e923d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy 13"; rdfs:comment "preferred label from MONDO" . _:e924d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy type 13"; "MONDORULE:2", "Orphanet:3378" . _:e926d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "D trisomy syndrome (formerly)"; "GARD:0007341" . _:e929d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Patau syndrome"; "Orphanet:3378" . _:e92ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 13, trisomy 13 complete"; "GARD:0007341" . _:e92bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3378" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations."; , , , ; , , , , , , ; "Chromosome 18 duplication"@en, "Edwards syndrome"@en; "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations."@en; "orphanet"@en; "DOID:1085", "GARD:0006321", "ICD-10:Q91.0", "ICD-10:Q91.1", "ICD-10:Q91.2", "ICD-10:Q91.3", "ICD10:Q91.0", "ICD10:Q91.1", "ICD10:Q91.2", "ICD10:Q91.3", "ICD9:758.2", "MESH:C580500", "MONDO:0018071", "MedDRA:10053884", "NCIT:C36626", "SCTID:51500006", "UMLS:C0152096"; "Chromosome 18 duplication", "E3 trisomy", "Edwards syndrome", "chromosome 18 duplication", "complete trisomy 18 syndrome", "trisomy 18", "trisomy type 18"; "18 trisomy", "chromosome 18 trisomy", "trisomy 16-18 (formerly)", "trisomy E (formerly)"; "Orphanet:3380"; ; rdfs:label "Trisomy 18", "Trisomy 18"@en; "ORPHA:3380" . _:e93ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations."; "Orphanet:3380" . _:e93bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1085"; "MONDO:equivalentTo" . _:e93cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006321"; "MONDO:equivalentTo", "Orphanet-shared" . _:e93dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.0"; "BTNT (broader term maps to a narrower term)"@en . _:e93fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid21978; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid21978 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.0"; "Specific code (The term has its own code in the ICD10)"@en . _:e944d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.1"; "BTNT (broader term maps to a narrower term)"@en . _:e946d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.1"; "Specific code (The term has its own code in the ICD10)"@en . _:e947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.2"; "BTNT (broader term maps to a narrower term)"@en . _:e948d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.2"; "Specific code (The term has its own code in the ICD10)"@en . _:e949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.3"; "BTNT (broader term maps to a narrower term)"@en . _:e94ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q91.3"; "Specific code (The term has its own code in the ICD10)"@en . _:e94bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q91.0"; "ORDO:3380/btnt", "ORDO:3380/specific", "Orphanet:3380" . _:e94dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q91.1"; "ORDO:3380/btnt", "ORDO:3380/specific", "Orphanet:3380" . _:e950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q91.2"; "ORDO:3380/btnt", "ORDO:3380/specific", "Orphanet:3380" . _:e951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q91.3"; "DOID:1085", "ORDO:3380/btnt", "ORDO:3380/specific", "Orphanet:3380" . _:e953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.2"; "DOID:1085", "MONDO:equivalentTo", "i2s" . _:e957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580500"; "DOID:1085", "MONDO:equivalentTo" . _:e958d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053884"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e95bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053884"; "ORDO:3380/e", "Orphanet:3380" . _:e95cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C36626"; "MONDO:equivalentTo", "MONDO:otherHierarchy", "exact-label-match" . _:e95dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:51500006"; "DOID:1085", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.18" . _:e95ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152096"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e95fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152096"; "DOID:1085", "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "ORDO:3380/e", "Orphanet:3380" . _:e960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "E3 trisomy"; "DOID:1085", "NCIT:C36626" . _:e961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Edwards syndrome"; "MONDO:0001140", "Orphanet:3380" . _:e963d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 18 duplication"; "Orphanet:3380" . _:e964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complete trisomy 18 syndrome"; "DOID:1085" . _:e965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy 18"; "DOID:1085" . _:e967d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy 18"; rdfs:comment "preferred label from MONDO" . _:e968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy type 18"; "MONDORULE:2", "Orphanet:3380" . _:e969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "18 trisomy"; "GARD:0006321" . _:e96ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 18 trisomy"; "GARD:0006321" . _:e96bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy 16-18 (formerly)"; "GARD:0006321" . _:e96cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy E (formerly)"; "GARD:0006321" . _:e96dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3380" . a owl:Class; rdfs:subClassOf ; "Common aorticopulmonary trunk"@en, "Common arterial trunk"@en, "TAC"@en; "Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance."@en; "orphanet"@en; "ICD-10:Q20.0", "OMIM:217095", "UMLS:C0041207"; rdfs:label "Truncus arteriosus"@en; "ORPHA:3384" . _:e96ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q20.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e96fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22011; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22011 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q20.0"; "Specific code (The term has its own code in the ICD10)"@en . _:e997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:217095"; "NTBT (narrower term maps to a broader term)"@en . _:e998d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0041207"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida."; ; , , , , ; , ; "DOID:0080074", "ICD9:742.8", "MESH:D009436", "MONDO:0018075", "NCIT:C84923", "SCTID:253098009"; "NTD", "neural tube defect", "spinal dysraphism"; "Orphanet:3388"; ; rdfs:label "Neural tube defect", "Neural tube defect"@en; "ORPHA:3388" . _:e99dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida."; "NCIT:C84923" . _:e99fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3388" . _:e9a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDO:Redundant", "Orphanet:3388", "Orphanet:3388/inferred" . _:e9a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080074"; "MONDO:equivalentTo" . _:e9a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:742.8"; "MONDO:relatedTo", "i2s" . _:e9a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009436"; "MONDO:equivalentTo" . _:e9abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84923"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.79/0.14" . _:e9aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:253098009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:e9b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NTD"; "NCIT:C84923" . _:e9b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neural tube defect"; rdfs:comment "preferred label from MONDO" . _:e9b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinal dysraphism"; "NCIT:C84923" . _:e9b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3388" . a owl:Class; rdfs:subClassOf , , , , ; "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity."; , , , , ; "Intellectual disability-short stature-hand contractures-genital anomalies syndrome"@en, "Prader-Willi habitus-osteopenia-camptodactyly syndrome"@en; "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity."@en; "orphanet"@en; "GARD:0005426", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:C538276", "MONDO:0009905", "OMIM:264010", "SCTID:716334004", "UMLS:C0796189"; "Intellectual disability - short stature - hand contractures - genital anomalies", "Prader-Willi habitus - osteopenia - camptodactyly", "Prader-Willi habitus-osteopenia-camptodactyly syndrome", "intellectual disability-short stature-hand contractures-genital anomalies syndrome", "urban-Rogers-Meyer syndrome"; "Prader-Willi habitus, osteopenia, and camptodactyly"; "Orphanet:3409"; ; rdfs:label "Urban-Rogers-Meyer syndrome", "Urban-Rogers-Meyer syndrome"@en; "ORPHA:3409" . _:e9bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity."; "Orphanet:3409" . _:e9c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005426"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:e9c3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22029; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22029 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:e9c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:e9c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:3409/attributed", "ORDO:3409/ntbt", "Orphanet:3409" . _:e9c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538276"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e9c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264010"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e9c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264010"; "MONDO:equivalentTo", "ORDO:3409/e", "Orphanet:3409" . _:e9c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716334004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.66" . _:e9cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796189"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e9cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796189"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:264010", "Orphanet:3409" . _:e9ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi habitus-osteopenia-camptodactyly syndrome"; "Orphanet:3409" . _:e9cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intellectual disability-short stature-hand contractures-genital anomalies syndrome"; "Orphanet:3409" . _:e9ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urban-Rogers-Meyer syndrome"; "OMIM:264010" . _:e9cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urban-Rogers-Meyer syndrome"; rdfs:comment "preferred label from MONDO" . _:e9d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi habitus, osteopenia, and camptodactyly"; "OMIM:264010" . _:e9d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3409" . a owl:Class; rdfs:subClassOf , ; "An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1."; , , , , , , , , ; "ADTKD"@en, "Autosomal dominant medullary cystic kidney disease"@en, "MCKD"@en; "A chronic tubulointerstitial nephropathy, which belongs, together with nephronophthisis (NPH), to a heterogeneous group of inherited tubulo-interstitial nephritis, termed NPH-MCKD complex."@en; "orphanet"@en; "EFO:0008617", "GARD:0010801", "ICD-10:Q61.5", "ICD10:Q61.5", "MEDGEN:358137", "MEDGEN:881357", "MESH:C536137", "MONDO:0008264", "OMIM:174000", "OMIM:603860", "OMIM:609886", "SCTID:444699000", "UMLS:C4054549", "UMLS:C4511620", "UMLS:CN204412", "UMLS:CN536252"; "ADTKD", "autosomal dominant interstitial kidney disease", "autosomal dominant medullary cystic kidney disease", "autosomal dominant medullary cystic kidney disease with or without hyperuricemia"; "MCKD", "autosomal dominant tubulointerstitial kidney disease", "medullary cystic disease", "medullary cystic kidney disease", "polycystic kidneys, medullary type"; "Orphanet:34149"; , ; rdfs:label "Autosomal dominant medullary cystic kidney disease with or without hyperuricemia", "Autosomal dominant tubulointerstitial kidney disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease"^^xsd:anyURI; "ORPHA:34149" . _:e9d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1."; "NCIT:P378" . _:e9d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0008617"; "MONDO:equivalentTo" . _:e9d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010801"; "MONDO:equivalentTo" . _:e9dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:e9dcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22049; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22049 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "Specific code (The term has its own code in the ICD10)"@en . _:e9ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.5"; "ORDO:34149/e", "ORDO:34149/specific", "Orphanet:34149" . _:e9dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEDGEN:358137"; "MONDO:equivalentTo", "UMLS:C1868139" . _:e9e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEDGEN:881357"; "MONDO:equivalentTo", "UMLS:C4054549" . _:e9e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536137"; "MONDO:equivalentTo", "MONDO:ontobio" . _:e9e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:174000"; "BTNT (broader term maps to a narrower term)"@en . _:e9e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603860"; "BTNT (broader term maps to a narrower term)"@en . _:e9e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609886"; "BTNT (broader term maps to a narrower term)"@en . _:e9e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:444699000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:e9e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4054549"; "MONDO:equivalentTo", "NCIT:C123171" . _:e9ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4511620"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:e9edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204412"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:e9efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN536252"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:e9f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADTKD"; "Orphanet:34149" . _:e9f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant interstitial kidney disease"; "NCIT:C123171" . _:e9f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant medullary cystic kidney disease"; "Orphanet:34149" . _:e9f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant medullary cystic kidney disease with or without hyperuricemia"; "GARD:0010801" . _:e9f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant medullary cystic kidney disease with or without hyperuricemia"; rdfs:comment "preferred label from MONDO" . _:e9f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCKD"; "GARD:0010801", "OMIM:174000" . _:e9f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant tubulointerstitial kidney disease"; "Orphanet:34149" . _:e9fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary cystic disease"; "GARD:0010801" . _:e9ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary cystic kidney disease"; "GARD:0010801" . _:ea01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic kidneys, medullary type"; "OMIM:174000" . _:ea03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:34149" . _:ea04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease"^^xsd:anyURI; "GARD:0010801" . a owl:Class; rdfs:subClassOf , , , ; "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles."; , , , , , , , ; ; "Benign paroxysmal peritonitis"@en, "Benign recurrent polyserositis"@en, "FMF"@en, "Familial paroxysmal polyserositis"@en, "Periodic disease"@en; "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles."@en; "orphanet", "orphanet"@en; "COHD:193445", "DOID:2987", "GARD:0006421", "ICD-10:E85.0", "ICD10:E85.0", "ICD9:277.31", "MESH:D010505", "MONDO:0018088", "MSH:D010505", "MeSH:D010505", "MedDRA:10016207", "NCIT:C84707", "OMIM:134610", "OMIM:249100", "SCTID:12579009", "UMLS:C0031069", "UMLS:C0585274"; "Benign paroxysmal peritonitis", "Benign recurrent polyserositis", "FMF", "Familial paroxysmal polyserositis", "Periodic disease", "benign paroxysmal peritonitis", "benign recurrent polyserositis", "familial Mediterranean fever", "familial paroxysmal polyserositis", "periodic disease"; "Orphanet:342"; ; rdfs:label "Familial Mediterranean fever", "Familial Mediterranean fever"@en; "ORPHA:342" . _:ea0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles."; "Orphanet:342" . _:ea0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:2987" . _:ea14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:193445"; "MONDO:equivalentTo" . _:ea15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2987"; "MONDO:equivalentTo" . _:ea16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006421"; "MONDO:equivalentTo" . _:ea17d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22080; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22080 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ea18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.0"; "NTBT (narrower term maps to a broader term)"@en . _:ea19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "DOID:2987", "ORDO:342/inclusion", "ORDO:342/ntbt", "Orphanet:342" . _:ea1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.31"; "DOID:2987", "MONDO:equivalentTo", "i2s" . _:ea1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010505"; "DOID:2987", "MONDO:equivalentTo", "ORDO:342/e", "Orphanet:342" . _:ea20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D010505"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ea21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016207"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ea22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016207"; "ORDO:342/e", "Orphanet:342" . _:ea23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84707"; "DOID:2987", "MONDO:equivalentTo", "MONDO:kboom-pr-0.95/0.78/1.55" . _:ea24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:134610"; "BTNT (broader term maps to a narrower term)"@en . _:ea25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:249100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ea27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:12579009"; "DOID:2987", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.21" . _:ea28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031069"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ea29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031069"; "DOID:2987", "MONDO:equivalentTo", "NCIT:C84707", "ORDO:342/e", "Orphanet:342" . _:ea2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0585274"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ea2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FMF"; "Orphanet:342" . _:ea30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign paroxysmal peritonitis"; "DOID:2987", "MTHICD9_2006:277.3", "Orphanet:342" . _:ea31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign recurrent polyserositis"; "Orphanet:342" . _:ea32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial Mediterranean fever"; rdfs:comment "preferred label from MONDO" . _:ea35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial paroxysmal polyserositis"; "Orphanet:342" . _:ea37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodic disease"; "Orphanet:342" . _:ea39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:342" . a owl:Class; rdfs:subClassOf , , , , , ; "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry."; , ; , , , , , , , ; "Camptodactyly-overgrowth-unusual facies syndrome"@en; "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry."@en; "orphanet"@en; "DOID:14731", "GARD:0007878", "GTR:AN0102079", "GTR:AN0102080", "ICD-10:Q87.3", "ICD10:Q87.3", "ICD9:759.89", "MESH:C536687", "MONDO:0010193", "MSH:C536687", "MeSH:C536687", "NCIT:C125599", "OMIM:277590", "SCTID:63119004", "UMLS:C0265210", "UMLS:CN036342"; "Camptodactyly - overgrowth - unusual facies", "WEAVER-like syndrome", "Weaver syndrome", "Weaver-Williams syndrome", "camptodactyly-overgrowth-unusual facies syndrome"; "EZH2 related overgrowth", "WEAVER syndrome; WVS", "WVS", "Weaver Smith syndrome", "Weaver Williams syndrome", "Weaver like syndrome", "Weaver-Smith syndrome", "Weaver-like syndrome", "camptodactyly - overgrowth - unusual facies", "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate", "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly"; "Orphanet:3447"; ; rdfs:label "Weaver syndrome", "Weaver syndrome"@en; "ORPHA:3447" . _:ea44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry."; "Orphanet:3447" . _:ea45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14731"; "MONDO:equivalentTo" . _:ea47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007878"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:ea49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0102079"; "UMLS:CN036342" . _:ea4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0102080"; "UMLS:CN036342" . _:ea4cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22108; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22108 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ea4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:ea4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:3447/inclusion", "ORDO:3447/ntbt", "Orphanet:3447" . _:ea50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:ea51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536687"; "MONDO:equivalentTo", "ORDO:3447/e", "Orphanet:3447" . _:ea52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536687"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ea53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C125599"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:ea54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277590"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ea58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277590"; "DOID:14731", "MONDO:equivalentTo", "ORDO:3447/e", "Orphanet:3447" . _:ea5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:63119004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:ea5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265210"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ea5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265210"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C125599", "OMIM:277590", "ORDO:3447/e", "Orphanet:3447" . _:ea64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN036342"; "MONDO:equivalentTo" . _:ea66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WEAVER-like syndrome"; "DOID:14731" . _:ea67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver syndrome"; "MONDO:Lexical", "OMIM:277590" . _:ea68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver syndrome"; rdfs:comment "preferred label from MONDO" . _:ea69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver-Williams syndrome"; "DOID:14731" . _:ea6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "camptodactyly-overgrowth-unusual facies syndrome"; "Orphanet:3447" . _:ea6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EZH2 related overgrowth"; "GARD:0007878" . _:ea6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WEAVER syndrome; WVS"; "OMIM:277590" . _:ea6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WVS"; "MONDO:Lexical", "OMIM:277590" . _:ea74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver Smith syndrome"; "GARD:0007878" . _:ea76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver Williams syndrome"; "GTR:AN0102079" . _:ea78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver like syndrome"; "GARD:0007878" . _:ea79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver-Smith syndrome"; "OMIM:277590" . _:ea7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weaver-like syndrome"; "OMIM:277590" . _:ea7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "camptodactyly - overgrowth - unusual facies"; "GARD:0007878" . _:ea7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate"; "GTR:AN0102080" . _:ea7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly"; "GARD:0007878" . _:ea7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3447" . a owl:Class; rdfs:subClassOf , , , , ; "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency.", "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported."; ; , , , , , ; "LGMD2I"@en, "Limb-girdle muscular dystrophy due to FKRP deficiency"@en; "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported."@en; "orphanet", "orphanet"@en; "DOID:0110299", "GARD:0012533", "ICD-10:G71.0", "ICD10:G71.0", "MESH:C564612", "MONDO:0011787", "NCIT:C126739", "OMIM:607155", "SCTID:718180000", "UMLS:C1846672"; "FKRP autosomal recessive limb-girdle muscular dystrophy", "LGMD2I", "Limb-girdle muscular dystrophy due to FKRP deficiency", "MDDGC5", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "autosomal recessive limb-girdle muscular dystrophy type 2I", "limb-girdle muscular dystrophy due to FKRP deficiency", "muscular dystrophy limb-girdle type 2I", "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5", "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related"; "limb-girdle muscular dystrophy type 2I", "muscular dystrophy, limb-girdle, type 2I", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; MDDGC5", "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related"; "Orphanet:34515"; ; rdfs:label "Autosomal recessive limb-girdle muscular dystrophy type 2I", "Autosomal recessive limb-girdle muscular dystrophy type 2I"@en; "ORPHA:34515" . _:ea85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported."; "Orphanet:34515" . _:ea87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110299"; "MONDO:equivalentTo" . _:ea8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012533"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:ea8dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22142; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:eab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:eab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:0110299", "MONDO:subClassOf", "ORDO:34515/inclusion", "ORDO:34515/ntbt", "Orphanet:34515" . _:eabbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564612"; "MONDO:equivalentTo", "MONDO:ontobio" . _:eabdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126739"; "MONDO:equivalentTo" . _:eabed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607155"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eabfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607155"; "DOID:0110299", "MONDO:equivalentTo", "ORDO:34515/e", "Orphanet:34515" . _:eac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718180000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.65" . _:eac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1846672"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FKRP autosomal recessive limb-girdle muscular dystrophy"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:eac5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD2I"; "DOID:0110299", "Orphanet:34515" . _:eac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDDGC5"; "DOID:0110299", "MONDO:Lexical", "OMIM:607155" . _:eac9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP"; "MONDO:design_pattern" . _:eacbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive limb-girdle muscular dystrophy type 2I"; rdfs:comment "preferred label from MONDO" . _:eacdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy due to FKRP deficiency"; "DOID:0110299", "Orphanet:34515" . _:ead3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy limb-girdle type 2I"; "DOID:0110299" . _:ead9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5"; "NCIT:C126739" . _:eadad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5"; "DOID:0110299" . _:eadcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related"; "DOID:0110299" . _:eaded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy type 2I"; "GARD:0012533" . _:eae2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 2I"; "OMIM:607155" . _:eae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5"; "MONDO:Lexical", "OMIM:607155" . _:eae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; MDDGC5"; "OMIM:607155" . _:eae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related"; "OMIM:607155" . _:eae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:34515" . a owl:Class; rdfs:subClassOf , ; "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria.", "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3."; , , , , ; "LGMD1D"@en; "A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed."@en; "orphanet", "orphanet"@en; "DOID:0110305", "GARD:0012528", "ICD-10:G71.0", "ICD10:G71.0", "MESH:C566370", "MONDO:0021018", "OMIM:603511", "UMLS:C3501858"; "DNAJB6 autosomal dominant limb-girdle muscular dystrophy", "LGMD1D", "LGMD1D (DNAJB6)", "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6", "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"; "LGMD1E", "LGMD1E (Bushby and Beckmann, 2003)", "autosomal dominant limb-girdle muscular dystrophy type 1D", "autosomal dominant limb-girdle muscular dystrophy type 1E", "limb-girdle muscular dystrophy type 1D", "muscular dystrophy limb-girdle type 1D", "muscular dystrophy limb-girdle type 1E", "muscular dystrophy, limb-girdle, type 1D", "muscular dystrophy, limb-girdle, type 1D, formerly", "muscular dystrophy, limb-girdle, type 1E", "muscular dystrophy, limb-girdle, type 1E; LGMD1E"; "Orphanet:34516"; ; rdfs:comment "Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3"; rdfs:label "Autosomal dominant limb-girdle muscular dystrophy type 1D", "Autosomal dominant limb-girdle muscular dystrophy type 1D"@en; "ORPHA:34516" . _:eaf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3."; "Orphanet:34516", "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/" . _:eaf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110305"; "MONDO:equivalentTo" . _:eaf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012528"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:eaf8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22171; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22171 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Attributed"@en . _:eaf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:eafcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:0110305", "MONDO:subClassOf", "ORDO:34516/attributed", "ORDO:34516/ntbt", "Orphanet:34516", "Orphanet:34517" . _:eafed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566370"; "MONDO:equivalentTo", "MONDO:ontobio" . _:eaffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603511"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eb02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603511"; "MONDO:cjm", "MONDO:equivalentTo", "ORDO:34516/e", "Orphanet:34516" . _:eb04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3501858"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eb06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3501858"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:34516" . _:eb08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNAJB6 autosomal dominant limb-girdle muscular dystrophy"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:eb09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD1D"; "Orphanet:34516" . _:eb0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD1D (DNAJB6)"; "MONDO:cjm" . _:eb0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6"; "MONDO:design_pattern" . _:eb0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"; rdfs:comment "preferred label from MONDO" . _:eb0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD1E"; "MONDO:Lexical", "OMIM:603511", "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/"; . _:eb11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGMD1E (Bushby and Beckmann, 2003)"; "OMIM:603511", "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/"; . _:eb12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant limb-girdle muscular dystrophy type 1D"; "Orphanet:34516" . _:eb13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant limb-girdle muscular dystrophy type 1E"; "DOID:0110305"; . _:eb16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy type 1D"; "GARD:0012528" . _:eb17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy limb-girdle type 1D"; "DOID:0110305" . _:eb19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy limb-girdle type 1E"; "DOID:0110305"; . _:eb1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 1D"; "OMIM:603511" . _:eb1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 1D, formerly"; "OMIM:603511" . _:eb1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 1E"; "MONDO:Lexical", "OMIM:603511"; . _:eb1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, limb-girdle, type 1E; LGMD1E"; "OMIM:603511"; . _:eb20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:34516" . _:eb21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3"; "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/" . a owl:Class; rdfs:subClassOf , , , , ; "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.", "Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood."; ; , , , ; "A rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood."@en; "orphanet", "orphanet"@en; "hypomagnesemia"; "DOID:0060879", "GARD:0002906", "ICD-10:E83.4", "ICD10:E83.4", "MONDO:0018100", "NCIT:C123263", "OMIMPS:602014", "SCTID:80710001"; "HOMG", "familial primary hypomagnesemia", "primary familial hypomagnesemia"; "Orphanet:34526"; ; rdfs:label "Familial primary hypomagnesemia", "Familial primary hypomagnesemia"@en; "ORPHA:34526" . _:eb24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration."; "NCIT:C123263" . _:eb25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia"; "OMIMPS:602014" . _:eb26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060879"; "MONDO:equivalentTo" . _:eb27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002906"; "MONDO:equivalentTo", "Orphanet-shared" . _:eb29d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22202; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "Attributed"@en . _:eb2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "NTBT (narrower term maps to a broader term)"@en . _:eb2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.4"; "DOID:0060879", "ORDO:34526/attributed", "ORDO:34526/ntbt", "Orphanet:34526" . _:eb2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123263"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.72" . _:eb32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:602014"; "DOID:0060879", "MONDO:equivalentTo" . _:eb33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:80710001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:eb35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOMG"; "DOID:0060879" . _:eb36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hypomagnesemia"; "NCIT:C123263" . _:eb38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hypomagnesemia"; rdfs:comment "preferred label from MONDO" . _:eb39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary familial hypomagnesemia"; "DOID:0060879" . _:eb3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:34526" . a owl:Class; rdfs:subClassOf , ; "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay."; , , , ; "A form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay."@en; "orphanet", "orphanet"@en; "ICD-10:E83.4", "ICD10:E83.4", "MONDO:0018101", "OMIM:611718", "OMIM:613882", "OMIM:616418", "SCTID:725031005", "UMLS:C4510731", "UMLS:CN204443"; "familial primary hypomagnesemia with normocalciuria and normocalcemia"; "Orphanet:34527"; ; rdfs:label "Familial primary hypomagnesemia with normocalciuria and normocalcemia", "Familial primary hypomagnesemia with normocalciuria and normocalcemia"@en; "ORPHA:34527" . _:eb44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay."; "Orphanet:34527" . _:eb45d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22215; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22215 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "Attributed"@en . _:eb47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "NTBT (narrower term maps to a broader term)"@en . _:eb4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.4"; "ORDO:34527/attributed", "ORDO:34527/ntbt", "Orphanet:34527" . _:eb4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611718"; "BTNT (broader term maps to a narrower term)"@en . _:eb4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613882"; "BTNT (broader term maps to a narrower term)"@en . _:eb51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616418"; "BTNT (broader term maps to a narrower term)"@en . _:eb52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616418"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:eb53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725031005"; "MONDO:equivalentTo" . _:eb57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4510731"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:eb58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204443"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:eb5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hypomagnesemia with normocalciuria and normocalcemia"; rdfs:comment "preferred label from MONDO" . _:eb5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:34527" . a owl:Class; rdfs:subClassOf , ; "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed."; , , , , , , ; "HOMG2"@en, "Isolated autosomal dominant hypomagnesemia"@en, "Isolated renal magnesium wasting"@en, "Renal hypomagnesemia type 2"@en; "A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed."@en; "orphanet", "orphanet"@en; "DOID:0060885", "GARD:0003350", "ICD-10:E83.4", "ICD10:E83.4", "MESH:C537152", "MONDO:0007937", "OMIM:154020", "SCTID:725393000", "UMLS:C1835171", "UMLS:C4511005"; "FXYD2 familial primary hypomagnesemia", "FXYD2 primary hypomagnesemia", "HOMG2", "Isolated autosomal dominant hypomagnesemia", "Isolated renal magnesium wasting", "Renal hypomagnesemia type 2", "familial primary hypomagnesemia caused by mutation in FXYD2", "isolated autosomal dominant hypomagnesemia", "isolated renal magnesium wasting", "primary hypomagnesemia caused by mutation in FXYD2", "renal hypomagnesemia 2", "renal hypomagnesemia type 2"; "autosomal dominant primary hypomagnesemia with hypocalciuria", "hypomagnesemia 2, renal", "hypomagnesemia 2, renal; HOMG2", "magnesium loss, isolated renal", "magnesium wasting, renal"; "Orphanet:34528"; , ; rdfs:label "Autosomal dominant primary hypomagnesemia with hypocalciuria", "Autosomal dominant primary hypomagnesemia with hypocalciuria"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2"^^xsd:anyURI; "ORPHA:34528" . _:eb68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed."; "Orphanet:34528" . _:eb6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060885"; "MONDO:equivalentTo" . _:eb6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003350"; "MONDO:equivalentTo" . _:eb6ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22231; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22231 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "Attributed"@en . _:eb72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.4"; "NTBT (narrower term maps to a broader term)"@en . _:eb75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.4"; "DOID:0060885", "ORDO:34528/attributed", "ORDO:34528/ntbt", "Orphanet:34528" . _:eb76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537152"; "MONDO:equivalentTo", "MONDO:ontobio" . _:eb78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154020"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eb79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154020"; "DOID:0060885", "MONDO:equivalentTo", "ORDO:34528/e", "Orphanet:34528" . _:eb7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725393000"; "MONDO:equivalentTo" . _:eb7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1835171"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eb7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1835171"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:154020", "Orphanet:34528" . _:eb7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4511005"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:eb80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FXYD2 familial primary hypomagnesemia"; "MONDO:patterns/disease_series_by_gene" . _:eb81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FXYD2 primary hypomagnesemia"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:eb82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOMG2"; "DOID:0060885", "MONDO:Lexical", "OMIM:154020", "Orphanet:34528" . _:eb83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated autosomal dominant hypomagnesemia"; "Orphanet:34528" . _:eb84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated renal magnesium wasting"; "Orphanet:34528" . _:eb86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hypomagnesemia caused by mutation in FXYD2"; "MONDO:design_pattern" . _:eb88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal hypomagnesemia 2"; rdfs:comment "preferred label from MONDO" . _:eb92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal hypomagnesemia type 2"; "DOID:0060885", "MONDORULE:1", "Orphanet:34528" . _:eb96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant primary hypomagnesemia with hypocalciuria"; "DOID:0060885" . _:eb99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia 2, renal"; "MONDO:Lexical", "OMIM:154020" . _:eb9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia 2, renal; HOMG2"; "OMIM:154020" . _:eb9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "magnesium loss, isolated renal"; "OMIM:154020" . _:eb9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "magnesium wasting, renal"; "OMIM:154020" . _:eb9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003350" . _:eba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:34528" . _:eba2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2"^^xsd:anyURI; "GARD:0003350" . a owl:Class; rdfs:subClassOf , , , , , , ; "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure."; , ; , , , , , , , ; , ; "APECED syndrome"@en, "APS type 1"@en, "APS1"@en, "Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome"@en, "Autoimmune polyendocrine syndrome type 1"@en, "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome"@en, "Autoimmune polyglandular syndrome type 1"@en, "HAM syndrome"@en, "Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome"@en, "MEDAC syndrome"@en, "Multiple endocrine deficiency-Addison disease-candidiasis syndrome"@en; "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure."@en; "orphanet", "orphanet"@en; "DOID:0050167", "GARD:0005558", "GARD:0008466", "ICD-10:E31.0", "ICD10:E31.0", "ICD9:258.8", "MONDO:0009411", "MSH:C538275", "MeSH:C538275", "NCIT:C129727", "OMIM:240300", "SCTID:11244009", "UMLS:C0085859", "UMLS:C3494489"; "AIRE autoimmune polyendocrinopathy", "APECED syndrome", "APS type 1", "APS1", "Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease", "Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease", "Autoimmune polyendocrine syndrome type 1", "Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome", "Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome", "Autoimmune polyglandular syndrome type 1", "HAM syndrome", "Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis", "Hypoparathyroidism - Addison's disease - mucocutaneous candidosis", "MEDAC syndrome", "Multiple endocrine deficiency - Addison's disease - candidiasis", "Multiple endocrine deficiency - Addison's disease - candidosis", "Whitaker syndrom", "aire autoimmune polyendocrinopathy", "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome", "autoimmune polyendocrine syndrome type 1", "autoimmune polyendocrinopathy caused by mutation in AIRE", "autoimmune polyendocrinopathy caused by mutation in aire", "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome", "autoimmune polyglandular syndrome I", "autoimmune polyglandular syndrome type 1", "autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome", "ham syndrome", "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome", "multiple endocrine deficiency-Addison disease-candidiasis syndrome", "polyglandular autoimmune syndrome type 1"; "APS 1", "PGA 1", "Whitaker syndrome", "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia", "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia; APS1", "autoimmune polyendocrinopathy syndrome type 1", "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant", "autoimmune polyendocrinopathy type 1", "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "autoimmune polyglandular syndrome, type 1", "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis", "polyglandular autoimmune syndrome, type 1", "polyglandular deficiency syndrome, Persian-Jewish type"; "Orphanet:3453"; , ; rdfs:label "Autoimmune polyendocrinopathy type 1", "Autoimmune polyendocrinopathy type 1"@en; "ORPHA:3453" . _:ebaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure."; "Orphanet:3453" . _:ebabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3453" . _:ebadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3453" . _:ebaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050167"; "MONDO:equivalentTo" . _:ebafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005558"; "MONDO:equivalentTo" . _:ebb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008466"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:ebb2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22264; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22264 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ebb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.0"; "NTBT (narrower term maps to a broader term)"@en . _:ebb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.0"; "MONDO:subClassOf", "ORDO:3453/inclusion", "ORDO:3453/ntbt", "Orphanet:3453" . _:ebb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:258.8"; "MONDO:relatedTo", "i2s" . _:ebb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538275"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ebb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129727"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:ebbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:240300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ebbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:240300"; "DOID:0050167", "MONDO:equivalentTo", "ORDO:3453/e", "Orphanet:3453" . _:ebbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:11244009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.85" . _:ebbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085859"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ebbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085859"; "GARD:0005558", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C129727", "OMIM:240300", "Orphanet:3453" . _:ebe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3494489"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ebe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AIRE autoimmune polyendocrinopathy"; "MONDO:patterns/disease_series_by_gene" . _:ebe3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APECED syndrome"; "Orphanet:3453" . _:ebe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APS type 1"; "Orphanet:3453" . _:ebe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APS1"; "MONDO:Lexical", "OMIM:240300", "Orphanet:3453" . _:ebe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEDAC syndrome"; "Orphanet:3453" . _:ebead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Whitaker syndrom"; "DOID:0050167" . _:ebedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aire autoimmune polyendocrinopathy"; "MONDO:design_pattern" . _:ebf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome"; "Orphanet:3453" . _:ebf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrine syndrome type 1"; "Orphanet:3453" . _:ebf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrine syndrome type 1"; rdfs:comment "preferred label from MONDO" . _:ebf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy caused by mutation in aire"; "MONDO:design_pattern" . _:ebf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"; "DOID:0050167", "OMIM:240300" . _:ebfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome"; "Orphanet:3453" . _:ebffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyglandular syndrome I"; "DOID:0050167" . _:ec02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyglandular syndrome type 1"; "Orphanet:3453" . _:ec05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ham syndrome"; "Orphanet:3453" . _:ec06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome"; "Orphanet:3453" . _:ec08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine deficiency-Addison disease-candidiasis syndrome"; "Orphanet:3453" . _:ec0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyglandular autoimmune syndrome type 1"; "NCIT:C129727" . _:ec0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APS 1"; "OMIM:240300" . _:ec0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGA 1"; "OMIM:240300" . _:ec0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Whitaker syndrome"; "GTR:AN0156902" . _:ec10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia"; "MONDO:Lexical", "OMIM:240300" . _:ec11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia; APS1"; "OMIM:240300" . _:ec14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy syndrome type 1"; "GARD:0008466" . _:ec16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant"; "OMIM:240300" . _:ec23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy type 1"; "Orphanet:3453" . _:ec24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)"; "GARD:0008466" . _:ec25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune polyglandular syndrome, type 1"; "OMIM:240300" . _:ec26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis"; "OMIM:240300" . _:ec27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyglandular autoimmune syndrome, type 1"; "OMIM:240300" . _:ec28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyglandular deficiency syndrome, Persian-Jewish type"; "OMIM:240300" . _:ec29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3453" . a owl:Class; rdfs:subClassOf , ; "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value."; , , , , , ; , , , , , , ; "orphanet"; "DOID:2566", "HP:0001131", "ICD10:H18.5", "ICD10:H18.50", "ICD9:371.5", "ICD9:371.50", "MESH:D003317", "MONDO:0018102", "MSH:D003317", "MedDRA:10011005", "NCIT:C34513", "SCTID:5587004", "UMLS:C0010036"; "corneal dystrophy", "corneal dystrophy (disease)"; "Orphanet:34533"; ; rdfs:comment "Editor note: NCIT distinguishes between acquired and genetic"; rdfs:label "Corneal dystrophy" . _:ec2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value."; "Orphanet:34533" . _:ec2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2566"; "MONDO:equivalentTo" . _:ec2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001131"; "MONDO:otherHierarchy", "ontobio" . _:ec2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H18.5"; "DOID:2566", "ORDO:34533/e", "ORDO:34533/specific", "Orphanet:34533" . _:ec31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H18.50"; "DOID:2566" . _:ec32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:371.5"; "DOID:2566" . _:ec33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:371.50"; "DOID:2566" . _:ec34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003317"; "DOID:2566", "MONDO:equivalentTo", "ORDO:34533/e", "Orphanet:34533" . _:ec36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011005"; "ORDO:34533/e", "Orphanet:34533" . _:ec37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34513"; "DOID:2566", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:ec39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:5587004"; "DOID:2566", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:ec3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010036"; "DOID:2566", "MONDO:equivalentTo", "NCIT:C34513", "ORDO:34533/e", "Orphanet:34533" . _:ec3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "corneal dystrophy"; "MONDO:ambiguous" . _:ec3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "corneal dystrophy (disease)"; rdfs:comment "preferred label from MONDO" . _:ec3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:34533" . a owl:Class; rdfs:subClassOf , ; "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections."; , , , , ; ; "Bare lymphocyte syndrome type 1"@en, "MHC class I deficiency"@en; "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections."@en; "orphanet"@en; "DOID:0060009", "GARD:0008427", "ICD-10:D81.6", "ICD10:D81.6", "MONDO:0011476", "OMIM:241600", "OMIM:604571", "SCTID:725136003", "UMLS:C1858266"; "BLS, type I", "BLSI", "Bare lymphocyte syndrome type 1", "HLA CLASS I deficiency", "MHC class I deficiency", "bare lymphocyte syndrome type I", "immunodeficiency by defective expression of HLA class 1", "immunodeficiency by defective expression of HLA class type 1"; "BARE lymphocyte syndrome, type I", "BLS type 1", "Bare lymphocyte syndrome, type 1", "Bls, type 1", "HLA Class 1 deficiency"; "Orphanet:34592"; ; rdfs:label "Immunodeficiency by defective expression of HLA class 1", "Immunodeficiency by defective expression of MHC class I"@en; "ORPHA:34592" . _:ec49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections."; "Orphanet:34592" . _:ec4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:0060009", "https://github.com/monarch-initiative/mondo-build/issues/108" . _:ec4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060009"; "MONDO:equivalentTo" . _:ec51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008427"; "MONDO:equivalentTo", "OMIM-shared" . _:ec53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.6"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ec54d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22330; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22330 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.6"; "Specific code (The term has its own code in the ICD10)"@en . _:ec58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.6"; "ORDO:34592/e", "ORDO:34592/specific", "Orphanet:34592" . _:ec59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:241600"; "BTNT (broader term maps to a narrower term)"@en . _:ec5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604571"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ec5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604571"; "DOID:0060009", "MONDO:equivalentTo", "ORDO:34592/e", "Orphanet:34592" . _:ec5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:725136003"; "MONDO:equivalentTo" . _:ec5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1858266"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ec5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1858266"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:604571", "Orphanet:34592" . _:ec5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLS, type I"; "DOID:0060009" . _:ec62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLSI"; "DOID:0060009" . _:ec65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome type 1"; "Orphanet:34592" . _:ec67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLA CLASS I deficiency"; "DOID:0060009" . _:ec6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHC class I deficiency"; rdfs:comment "preferred label from MONDO" . _:ec6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bare lymphocyte syndrome type I"; "DOID:0060009" . _:ec6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency by defective expression of HLA class 1"; "Orphanet:34592" . _:ec6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency by defective expression of HLA class type 1"; "MONDORULE:1", "Orphanet:34592" . _:ec71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BARE lymphocyte syndrome, type I"; "OMIM:604571" . _:ec73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLS type 1"; "GARD:0008427" . _:ec75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome, type 1"; "OMIM:604571" . _:ec77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bls, type 1"; "OMIM:604571" . _:ec78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLA Class 1 deficiency"; "OMIM:604571" . _:ec7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:34592" . a owl:Class; rdfs:subClassOf , , , , ; "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)."; , , , , , , ; "DIDMOAD syndrome"@en, "Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome"@en; "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)."@en; "orphanet", "orphanet"@en; "DOID:10632", "GARD:0007898", "ICD-10:E13.8", "ICD10:E13.8", "ICD9:250.80", "MESH:D014929", "MONDO:0018105", "MSH:D014929", "MeSH:D014929", "NCIT:C35133", "OMIM:222300", "OMIM:598500", "OMIM:604928", "OMIM:614296", "SCTID:70694009", "UMLS:C0043207", "UMLS:CN184630"; "DIDMOAD", "DIDMOAD syndrome", "Diabetes insipidus - diabetes mellitus - optic atrophy - deafness", "WFS", "Wolfram syndrome", "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome", "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome", "diabetes mellitus and insipidus with optic atrophy and deafness"; "Orphanet:3463"; ; rdfs:label "Wolfram syndrome", "Wolfram syndrome"@en; "ORPHA:3463" . _:ec83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)."; "Orphanet:3463" . _:ec84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10632"; "MONDO:equivalentTo" . _:ec85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007898"; "MONDO:equivalentTo", "Orphanet-shared" . _:ec86d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22356; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22356 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13.8"; "Attributed"@en . _:ec87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13.8"; "NTBT (narrower term maps to a broader term)"@en . _:ec88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E13.8"; "ORDO:3463/attributed", "ORDO:3463/ntbt", "Orphanet:3463" . _:ec89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:250.80"; "MONDO:relatedTo", "i2s" . _:ec8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014929"; "DOID:10632", "MONDO:equivalentTo", "ORDO:3463/e", "Orphanet:3463" . _:ec8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014929"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ec8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35133"; "DOID:10632", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:ec8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:222300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ec8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:598500"; "BTNT (broader term maps to a narrower term)"@en . _:ec8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604928"; "BTNT (broader term maps to a narrower term)"@en . _:ec90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:70694009"; "DOID:10632", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.74/0.37" . _:ec91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043207"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ec92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043207"; "DOID:10632", "MONDO:equivalentTo", "NCIT:C35133", "ORDO:3463/e", "Orphanet:3463" . _:ec93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN184630"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ec96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIDMOAD"; "DOID:10632" . _:ec97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIDMOAD syndrome"; "Orphanet:3463" . _:ec9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WFS"; "DOID:10632" . _:ec9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wolfram syndrome"; rdfs:comment "preferred label from MONDO" . _:ec9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome"; "NCIT:C35133" . _:eca0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome"; "Orphanet:3463" . _:eca2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus and insipidus with optic atrophy and deafness"; "DOID:10632" . _:eca6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3463" . a owl:Class; rdfs:subClassOf , , , ; "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis."; , ; , , ; "Classic xanthinuria"@en, "Xanthic urolithiasis"@en, "Xanthine stone disease"@en; "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis."@en; "orphanet", "orphanet"@en; "DOID:0060236", "HP:0010934", "ICD-10:E79.8", "ICD10:E79.8", "ICD9:277.2", "MONDO:0018106", "OMIM:278300", "OMIM:603592", "SCTID:54627004"; "Classical xanthinuria", "Xanthic urolithiasis", "Xanthine stone disease", "classic xanthinuria", "hereditary xanthinuria", "xanthic urolithiasis", "xanthine dehydrogenase deficiency", "xanthine oxidase deficiency", "xanthine stone disease"; "xanthinuria"; "Orphanet:3467"; ; rdfs:label "Hereditary xanthinuria", "Hereditary xanthinuria"@en; "ORPHA:3467" . _:ecb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis."; "Orphanet:3467" . _:ecb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060236"; "MONDO:equivalentTo" . _:ecb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0010934"; "DOID:0060236", "MONDO:otherHierarchy" . _:ecb9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22382; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E79.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ecbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E79.8"; "NTBT (narrower term maps to a broader term)"@en . _:ecbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E79.8"; "ORDO:3467/inclusion", "ORDO:3467/ntbt", "Orphanet:3467" . _:ecbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.2"; "MONDO:relatedTo", "i2s" . _:ecbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278300"; "BTNT (broader term maps to a narrower term)"@en . _:ecc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603592"; "BTNT (broader term maps to a narrower term)"@en . _:ecc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:54627004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.85/0.06" . _:ecc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic xanthinuria"; "Orphanet:3467" . _:ecc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary xanthinuria"; "MONDO:patterns/hereditary" . _:ecc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary xanthinuria"; rdfs:comment "preferred label from MONDO" . _:eccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xanthic urolithiasis"; "Orphanet:3467" . _:eccbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xanthine dehydrogenase deficiency"; "DOID:0060236" . _:ecccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xanthine oxidase deficiency"; "DOID:0060236" . _:eccdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xanthine stone disease"; "Orphanet:3467" . _:ecced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xanthinuria"; "DOID:0060236" . _:eccfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3467" . a owl:Class; rdfs:subClassOf , , , , , ; "Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma."; , , , , , , ; "Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma."@en; "orphanet"@en; "DOID:0050438", "GARD:0002375", "ICD-10:N04.1", "ICD10:N04.1", "ICD9:759.89", "MESH:D052159", "MONDO:0007635", "MSH:D052159", "MeSH:D052159", "NCIT:C122805", "OMIM:136680", "SCTID:445431000", "UMLS:C0950122"; "Frasier syndrome"; "Orphanet:347"; , ; rdfs:label "Frasier syndrome", "Frasier syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome"^^xsd:anyURI; "ORPHA:347" . _:ecd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma."; "Orphanet:347" . _:ecd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050438"; "MONDO:equivalentTo" . _:ecd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002375"; "MONDO:equivalentTo" . _:ecd8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22402; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "Attributed"@en . _:ecdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "NTBT (narrower term maps to a broader term)"@en . _:ecdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.1"; "ORDO:347/attributed", "ORDO:347/ntbt", "Orphanet:347" . _:ecddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:ecdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D052159"; "DOID:0050438", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:347/e", "Orphanet:347" . _:ece0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D052159"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ece1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122805"; "DOID:0050438", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:ece3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:136680"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ece5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:136680"; "DOID:0050438", "MONDO:equivalentTo", "ORDO:347/e", "Orphanet:347" . _:ece7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:445431000"; "DOID:0050438", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:ece8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0950122"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ece9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0950122"; "DOID:0050438", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C122805", "OMIM:136680", "ORDO:347/e", "Orphanet:347" . _:ecebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Frasier syndrome"; "OMIM:136680" . _:ececd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Frasier syndrome"; rdfs:comment "preferred label from MONDO" . _:eceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002375" . _:ecf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:347" . _:ecf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome"^^xsd:anyURI; "GARD:0002375" . a owl:Class; rdfs:subClassOf , , , , ; "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections."; , , , , , ; "Azoospermia-sinopulmonary infections syndrome"@en; "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections."@en; "orphanet"@en; "GARD:0000341", "ICD-10:N46", "ICD10:N46", "ICD9:759.89", "MESH:C536718", "MONDO:0010220", "MSH:C536718", "MeSH:C536718", "MedDRA:10063689", "OMIM:279000", "SCTID:233666007", "UMLS:C0340037"; "Azoospermia - sinopulmonary infections", "azoospermia-sinopulmonary infections syndrome", "young syndrome"; "Barry Perkins Young syndrome", "Barry-Perkins-Young syndrome", "azoospermia obstructive and chronic sinopulmonary infections", "azoospermia, obstructive, and chronic sinopulmonary infections", "sinusitis-infertility syndrome"; "Orphanet:3471"; , ; rdfs:label "Young syndrome", "Young syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/341/young-syndrome"^^xsd:anyURI; "ORPHA:3471" . _:ed10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections."; "Orphanet:3471" . _:ed14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000341"; "MONDO:equivalentTo" . _:ed16d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22422; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N46"; "Attributed"@en . _:ed19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N46"; "NTBT (narrower term maps to a broader term)"@en . _:ed1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:3471/attributed", "ORDO:3471/ntbt", "Orphanet:3471" . _:ed1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:ed1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536718"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:3471/e", "Orphanet:3471" . _:ed21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536718"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063689"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063689"; "ORDO:3471/e", "Orphanet:3471" . _:ed28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:279000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:279000"; "MONDO:equivalentTo", "ORDO:3471/e", "Orphanet:3471" . _:ed2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:233666007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/7.31" . _:ed2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0340037"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0340037"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:279000", "ORDO:3471/e", "Orphanet:3471" . _:ed2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "azoospermia-sinopulmonary infections syndrome"; "Orphanet:3471" . _:ed2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "young syndrome"; "OMIM:279000" . _:ed30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "young syndrome"; rdfs:comment "preferred label from MONDO" . _:ed31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Barry Perkins Young syndrome"; "GARD:0000341" . _:ed33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Barry-Perkins-Young syndrome"; "OMIM:279000" . _:ed35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "azoospermia obstructive and chronic sinopulmonary infections"; "GARD:0000341" . _:ed38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "azoospermia, obstructive, and chronic sinopulmonary infections"; "OMIM:279000" . _:ed39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sinusitis-infertility syndrome"; "OMIM:279000" . _:ed3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000341" . _:ed3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:3471" . _:ed3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/341/young-syndrome"^^xsd:anyURI; "GARD:0000341" . a owl:Class; rdfs:subClassOf , ; "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy."; , , , , , ; , , , , , , , ; "Ketotic hyperglycinemia"@en, "Propionic aciduria"@en, "Propionyl-CoA carboxylase deficiency"@en; "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy."@en; "orphanet", "orphanet"@en; "DOID:14701", "GARD:0000467", "ICD-10:E71.1", "ICD10:E71.1", "ICD10:E71.121", "MESH:D056693", "MONDO:0011628", "MSH:D056693", "MeSH:D056693", "NCIT:C85030", "OMIM:606054", "SCTID:69080001", "UMLS:C0268579", "UMLS:C0311298", "UMLS:C2717876"; "GLYCINEMIA, ketotic", "Ketotic hyperglycinemia", "Propionic aciduria", "Propionyl-CoA carboxylase deficiency", "ketotic II glycinemia", "ketotic glycinemia", "ketotic hyperglycinemia", "propionic acidemia", "propionic aciduria", "propionyl-CoA carboxylase deficiency"; "Glycinemia, ketotic", "PCC deficiency", "Propionicacidemia", "hyperglycinemia with ketoacidosis and leukopenia", "prop", "propionyl-Coa carboxylase deficiency"; "Orphanet:35"; , ; rdfs:label "Propionic acidemia", "Propionic acidemia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia"^^xsd:anyURI; "ORPHA:35" . _:ed44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy."; "Orphanet:35" . _:ed46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14701"; "MONDO:equivalentTo" . _:ed47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000467"; "MONDO:equivalentTo" . _:ed48d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22450; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22450 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ed4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "NTBT (narrower term maps to a broader term)"@en . _:ed4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "ORDO:35/inclusion", "ORDO:35/ntbt", "Orphanet:35" . _:ed4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.121"; "DOID:14701", "MONDO:equivalentTo" . _:ed4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056693"; "DOID:14701", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:35/e", "Orphanet:35" . _:ed52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D056693"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85030"; "DOID:14701", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:ed55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606054"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606054"; "DOID:14701", "MONDO:equivalentTo", "ORDO:35/e", "Orphanet:35" . _:ed5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:69080001"; "DOID:14701", "MONDO:equivalentTo" . _:ed5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268579"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268579"; "DOID:14701", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85030", "OMIM:606054", "ORDO:35/e", "Orphanet:35" . _:ed5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0311298"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2717876"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLYCINEMIA, ketotic"; "DOID:14701" . _:ed63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ketotic II glycinemia"; "DOID:14701" . _:ed65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ketotic glycinemia"; "DOID:14701" . _:ed66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ketotic hyperglycinemia"; "DOID:14701", "OMIM:606054", "Orphanet:35" . _:ed67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "propionic acidemia"; "OMIM:606054" . _:ed69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "propionic acidemia"; rdfs:comment "preferred label from MONDO" . _:ed6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "propionic aciduria"; "DOID:14701", "Orphanet:35" . _:ed6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "propionyl-CoA carboxylase deficiency"; "DOID:14701", "Orphanet:35" . _:ed6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycinemia, ketotic"; "OMIM:606054" . _:ed6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCC deficiency"; "OMIM:606054" . _:ed75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Propionicacidemia"; "GARD:0000467" . _:ed78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperglycinemia with ketoacidosis and leukopenia"; "OMIM:606054" . _:ed7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "prop"; "GARD:0000467" . _:ed7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "propionyl-Coa carboxylase deficiency"; "OMIM:606054" . _:ed7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000467" . _:ed81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:35" . _:ed83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia"^^xsd:anyURI; "GARD:0000467" . a owl:Class; rdfs:subClassOf , ; "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."; , , , , , ; "T-B+ SCID due to JAK3 deficiency"@en; "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."@en; "orphanet", "orphanet"@en; "ICD-10:D81.2", "ICD10:D81.2", "MESH:C563440", "MONDO:0010938", "OMIM:600802", "SCTID:718107000", "UMLS:C1833275", "UMLS:C4273742"; "T-B+ SCID due to JAK3 deficiency", "T-B+ severe combined immunodeficiency due to JAK3 deficiency", "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency"; "SCID, T cell-negative, B cell-positive, NK cell-negative", "severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency", "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE"; "Orphanet:35078"; ; rdfs:label "T-B+ severe combined immunodeficiency due to JAK3 deficiency", "T-B+ severe combined immunodeficiency due to JAK3 deficiency"@en; "ORPHA:35078" . _:ed86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."; "Orphanet:35078" . _:ed88d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22483; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22483 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:ed8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:ed8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:35078/attributed", "ORDO:35078/ntbt", "Orphanet:35078" . _:ed8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563440"; "MONDO:equivalentTo" . _:ed8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600802"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ed8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600802"; "MONDO:equivalentTo", "ORDO:35078/e", "Orphanet:35078" . _:ed90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718107000"; "MONDO:equivalentTo" . _:ed91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833275"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:600802" . _:ed94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4273742"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:ed97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ SCID due to JAK3 deficiency"; "Orphanet:35078" . _:ed98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-B+ severe combined immunodeficiency due to JAK3 deficiency"; rdfs:comment "preferred label from MONDO" . _:ed9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID, T cell-negative, B cell-positive, NK cell-negative"; "OMIM:600802" . _:ed9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE"; "OMIM:600802" . _:ed9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:35078" . a owl:Class; rdfs:subClassOf , , , , ; "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)."; , , , ; , , , , , , ; "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)."@en; "orphanet", "orphanet"@en; "COHD:439788", "DOID:9870", "GARD:0002424", "ICD-10:E74.2", "ICD10:E74.2", "ICD10:E74.21", "ICD9:271.1", "MESH:D005693", "MONDO:0018116", "MSH:D005693", "MeSH:D005693", "MedDRA:10017604", "NCIT:C84723", "OMIM:230200", "OMIM:230350", "OMIM:230400", "SCTID:190745006", "UMLS:C0016952"; "Galactosaemia", "galactose intolerance", "galactosemia"; "Orphanet:352"; ; rdfs:label "Galactosemia", "Galactosemia"@en; "ORPHA:352" . _:eda7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)."; "Orphanet:352" . _:eda9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:439788"; "MONDO:equivalentTo" . _:edabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9870"; "MONDO:equivalentTo" . _:edacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002424"; "MONDO:equivalentTo", "Orphanet-shared" . _:edafd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22502; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:edb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.2"; "NTBT (narrower term maps to a broader term)"@en . _:edb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.2"; "ORDO:352/inclusion", "ORDO:352/ntbt", "Orphanet:352" . _:edb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.21"; "DOID:9870" . _:edb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.1"; "DOID:9870", "MONDO:equivalentTo", "i2s" . _:edb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005693"; "DOID:9870", "MONDO:equivalentTo", "ORDO:352/e", "Orphanet:352" . _:edbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D005693"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:edbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10017604"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:edbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10017604"; "ORDO:352/e", "Orphanet:352" . _:edc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84723"; "DOID:9870", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.70/1.22" . _:edc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:230200"; "BTNT (broader term maps to a narrower term)"@en . _:edc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:230350"; "BTNT (broader term maps to a narrower term)"@en . _:edc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:230400"; "BTNT (broader term maps to a narrower term)"@en . _:edc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190745006"; "DOID:9870", "MONDO:equivalentTo", "MONDO:kboom-pr-0.86/0.70/0.09" . _:edccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0016952"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:edcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0016952"; "DOID:9870", "MONDO:equivalentTo", "NCIT:C84723", "ORDO:352/e", "Orphanet:352" . _:edced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galactosaemia"; "DOID:9870" . _:edcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "galactose intolerance"; "DOID:9870" . _:edd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "galactosemia"; "MONDO:0004908" . _:edd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "galactosemia"; rdfs:comment "preferred label from MONDO" . _:edd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:352" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic muscular channelopathy" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018117", "UMLS:CN227264"; "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"; "Orphanet:352301"; ; rdfs:label "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis" . _:edd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227264"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:edd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"; rdfs:comment "preferred label from MONDO" . _:edd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:352301" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018118", "UMLS:CN227265"; "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement"; "Orphanet:352306"; ; rdfs:label "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement" . _:edd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227265"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:eddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement"; rdfs:comment "preferred label from MONDO" . _:edddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:352306" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018120", "UMLS:CN227267"; "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement"; "Orphanet:352312"; ; rdfs:label "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" . _:eddfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227267"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ede0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement"; rdfs:comment "preferred label from MONDO" . _:ede1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:352312" . a owl:Class; rdfs:subClassOf ; "An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance."; , ; "MONDO:0018121", "UMLS:CN204491"; "inborn error of mitochondrial genome maintenance", "inborn mitochondrial genome maintenance disorder", "mitochondrial DNA maintenance syndrome", "mtDNA maintenance syndrome", "rare inborn error of mitochondrial genome maintenance"; "rare inborn error of mitochondrial genome maintenance"; "Orphanet:352456"; ; rdfs:label "Mitochondrial DNA maintenance syndrome" . _:ede8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance."; "MONDO:patterns/inborn_metabolic" . _:edebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204491"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:ededd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of mitochondrial genome maintenance"; "MONDO:patterns/inborn_metabolic" . _:edf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial DNA maintenance syndrome"; rdfs:comment "preferred label from MONDO" . _:edf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mtDNA maintenance syndrome"; "Orphanet:352456" . _:edf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of mitochondrial genome maintenance"; "MONDO:patterns/inborn_metabolic" . _:edf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of mitochondrial genome maintenance"; "MONDO:patterns/inborn_metabolic" . _:edf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:352456" . a owl:Class; rdfs:subClassOf , , ; "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."; , , , ; "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."@en; "orphanet", "orphanet"@en; "ICD-10:G25.8", "ICD10:G25.8", "MONDO:0018130", "OMIM:618049", "SCTID:717942003", "UMLS:C4303546", "UMLS:CN204508"; "brain dopamine-serotonin vesicular transport disease"; "Orphanet:352649"; ; rdfs:label "Brain dopamine-serotonin vesicular transport disease", "Brain dopamine-serotonin vesicular transport disease"@en; "ORPHA:352649" . _:edfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."; "Orphanet:352649" . _:edfcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22542; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G25.8"; "Attributed"@en . _:edfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G25.8"; "NTBT (narrower term maps to a broader term)"@en . _:edffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G25.8"; "ORDO:352649/attributed", "ORDO:352649/ntbt", "Orphanet:352649" . _:ee01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618049"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ee02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717942003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:ee03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4303546"; "MEDGEN:kboom-pr99-c99", "MONDO:equivalentTo" . _:ee05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204508"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:ee07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain dopamine-serotonin vesicular transport disease"; rdfs:comment "preferred label from MONDO" . _:ee0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:352649" . a owl:Class; rdfs:subClassOf , ; "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy."; ; "GARD:0012588", "MONDO:0018132"; "Lissencephaly type 2 with muscular and ocular involvement", "MDDGA", "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "lissencephaly type 2 with muscular and ocular involvement"; "Orphanet:352687"; , ; rdfs:label "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies"^^xsd:anyURI . _:ee34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy."; "Orphanet:352687" . _:ee36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012588"; "MONDO:equivalentTo" . _:ee38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDDGA"; "Orphanet:352687" . _:ee3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies"; rdfs:comment "preferred label from MONDO" . _:ee41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lissencephaly type 2 with muscular and ocular involvement"; "Orphanet:352687" . _:ee42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012588" . _:ee43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:352687" . _:ee47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies"^^xsd:anyURI; "GARD:0012588" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018134", "UMLS:CN227269"; "disorder of melanin metabolism"; "Orphanet:352728"; ; rdfs:label "Disorder of melanin metabolism" . _:ee4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227269"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:ee4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of melanin metabolism"; rdfs:comment "preferred label from MONDO" . _:ee4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:352728" . a owl:Class; rdfs:subClassOf , , , , ; "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)."; , , ; , , , , , , ; "Acid beta-glucosidase deficiency"@en, "Glucocerebrosidase deficiency"@en; "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)."@en; "orphanet", "orphanet"@en; "true"; "DOID:1926", "GARD:0008233", "ICD-10:E75.2", "ICD10:E75.2", "ICD10:E75.22", "MESH:D005776", "MONDO:0018150", "MSH:D005776", "MeSH:D005776", "MedDRA:10018048", "NCIT:C61268", "OMIM:230800", "OMIM:230900", "OMIM:231000", "OMIM:231005", "OMIM:608013", "OMIM:610539", "SCTID:190794006", "UMLS:C0017205"; "Acid beta-glucosidase deficiency", "Gaucher disease", "Gaucher syndrome", "Gaucher's disease", "Glucocerebrosidase deficiency", "acid beta-glucosidase deficiency", "glocucerebrosidase deficiency", "glucocerebrosidase deficiency", "glucocerebrosidosis", "glucosylceramidase deficiency", "glucosylceramide beta-glucosidase deficiency", "kerasin thesaurismosis", "lipoid histiocytosis", "lipoid histiocytosis (kerasin type)"; "acute cerebral Gaucher disease"; "Gaucher splenomegaly", "cerebroside lipidosis syndrome", "glucosyl cerebroside lipidosis", "kerasin histiocytosis", "kerasin lipoidosis", "sphingolipidosis 1"; "Orphanet:355"; ; rdfs:label "Gaucher disease", "Gaucher disease"@en; "ORPHA:355" . _:ee63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)."; "Orphanet:355" . _:ee65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1926"; "MONDO:equivalentTo" . _:ee66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008233"; "MONDO:equivalentTo", "Orphanet-shared" . _:ee67d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22566; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22566 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:ee68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "NTBT (narrower term maps to a broader term)"@en . _:ee69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.2"; "ORDO:355/inclusion", "ORDO:355/ntbt", "Orphanet:355" . _:ee6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.22"; "DOID:1926", "MONDO:equivalentTo" . _:ee6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005776"; "DOID:1926", "MONDO:equivalentTo", "ORDO:355/e", "Orphanet:355" . _:ee6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D005776"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ee6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018048"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ee6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018048"; "ORDO:355/e", "Orphanet:355" . _:ee6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61268"; "DOID:1926", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:ee70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:230800"; "BTNT (broader term maps to a narrower term)"@en . _:ee71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:230900"; "BTNT (broader term maps to a narrower term)"@en . _:ee72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:231000"; "BTNT (broader term maps to a narrower term)"@en . _:ee73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:231005"; "BTNT (broader term maps to a narrower term)"@en . _:ee74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608013"; "BTNT (broader term maps to a narrower term)"@en . _:ee75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610539"; "BTNT (broader term maps to a narrower term)"@en . _:ee76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190794006"; "DOID:1926", "MONDO:equivalentTo" . _:ee77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017205"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ee78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017205"; "DOID:1926", "MONDO:equivalentTo", "NCIT:C61268", "ORDO:355/e", "Orphanet:355" . _:ee79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gaucher disease"; "DOID:1926" . _:ee7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gaucher disease"; rdfs:comment "preferred label from MONDO" . _:ee7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gaucher's disease"; "DOID:1926" . _:ee80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acid beta-glucosidase deficiency"; "DOID:1926", "Orphanet:355" . _:ee86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glocucerebrosidase deficiency"; "DOID:1926" . _:ee8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucocerebrosidase deficiency"; "Orphanet:355" . _:ee8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucosylceramide beta-glucosidase deficiency"; "DOID:1926" . _:ee96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kerasin thesaurismosis"; "DOID:1926" . _:ee9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid histiocytosis"; "DOID:1926" . _:ee9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid histiocytosis (kerasin type)"; "CSP2005:1849-8920", "DOID:1926" . _:eea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute cerebral Gaucher disease"; "GARD:0008233" . _:eea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucosyl cerebroside lipidosis"; "GARD:0008233" . _:eea3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingolipidosis 1"; "GARD:0008233" . _:eea5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:355" . a owl:Class; rdfs:subClassOf , ; "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production."; ; , , , , , ; "Adult-onset PLS"@en, "Adult-onset primary lateral sclerosis"@en, "PLS"@en; "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production."@en; "orphanet"@en; "COHD:381003", "DOID:230", "GARD:0010684", "ICD-10:G12.2", "ICD10:G12.2", "ICD10:G12.29", "ICD9:335.24", "MONDO:0018155", "MedDRA:10036704", "NCIT:C129933", "OMIM:611637", "SCTID:81211007", "UMLS:C0154682", "UMLS:C1968845"; "Adult-onset PLS", "Adult-onset primary lateral sclerosis", "PLS", "adult-onset PLS", "adult-onset primary lateral sclerosis", "lateral sclerosis", "primary lateral sclerosis"; "Orphanet:35689"; ; rdfs:label "Primary lateral sclerosis", "Primary lateral sclerosis"@en; "ORPHA:35689" . _:eeacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production."; "Orphanet:35689" . _:eeaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:381003"; "MONDO:equivalentTo" . _:eeb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:230"; "MONDO:equivalentTo" . _:eeb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010684"; "MONDO:equivalentTo", "shared-umls-xref" . _:eeb2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22603; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22603 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G12.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:eeb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G12.2"; "NTBT (narrower term maps to a broader term)"@en . _:eeb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G12.2"; "MONDO:subClassOf", "ORDO:35689/inclusion", "ORDO:35689/ntbt", "Orphanet:35689" . _:eeb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G12.29"; "DOID:230" . _:eebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:335.24"; "DOID:230", "MONDO:equivalentTo", "i2s" . _:eebed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036704"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eebfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036704"; "ORDO:35689/e", "Orphanet:35689" . _:eec1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129933"; "MONDO:equivalentTo" . _:eec2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611637"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eec3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:81211007"; "DOID:230", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:eec4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154682"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eec5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154682"; "DOID:230", "MONDO:equivalentTo", "Orphanet:35689" . _:eec7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1968845"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:eec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PLS"; "Orphanet:35689" . _:eecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adult-onset PLS"; "Orphanet:35689" . _:eeccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adult-onset primary lateral sclerosis"; "DOID:230", "Orphanet:35689" . _:eecdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lateral sclerosis"; rdfs:comment "preferred label from MONDO" . _:eecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary lateral sclerosis"; "DOID:230", "ICD9CM_2006:335.24" . _:eed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:35689" . a owl:Class; rdfs:subClassOf , , , ; "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome (see these terms).", "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form."; , , , ; "orphanet"; "DC:0000284", "ICD10:G71.3", "MONDO:0018158", "MedDRA:10059396", "OMIMPS:603041", "UMLS:C0342782", "UMLS:CN239350"; "mitochondrial DNA depletion syndrome", "mtDNA depletion syndrome"; "Orphanet:35698"; ; rdfs:label "Mitochondrial DNA depletion syndrome" . _:eed3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome (see these terms)."; "Orphanet:35698" . _:eed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000284"; "MONDO:equivalentTo" . _:eed5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.3"; "ORDO:35698/attributed", "ORDO:35698/ntbt", "Orphanet:35698" . _:eed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059396"; "ORDO:35698/e", "Orphanet:35698" . _:eed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:603041"; "DC:0000284", "MONDO:equivalentTo" . _:eed8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239350"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:eed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial DNA depletion syndrome"; rdfs:comment "preferred label from MONDO" . _:eedad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mtDNA depletion syndrome"; "Orphanet:35698" . _:eedbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:35698" . a owl:Class; rdfs:subClassOf , , ; "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)."; , ; "Serine deficiency"@en; "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)."@en; "orphanet", "orphanet"@en; "ICD-10:E72.8", "ICD10:E72.8", "MONDO:0018162", "UMLS:CN227274"; "Serine deficiency", "neurometabolic disorder due to serine deficiency", "serine deficiency"; "Orphanet:35705"; ; rdfs:label "Neurometabolic disorder due to serine deficiency", "Neurometabolic disorder due to serine deficiency"@en; "ORPHA:35705" . _:eee4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)."; "Orphanet:35705" . _:eee5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22633; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22633 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "Attributed"@en . _:eee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "NTBT (narrower term maps to a broader term)"@en . _:eee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.8"; "ORDO:35705/attributed", "ORDO:35705/ntbt", "Orphanet:35705" . _:eeebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227274"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:eeedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurometabolic disorder due to serine deficiency"; rdfs:comment "preferred label from MONDO" . _:eeefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "serine deficiency"; "Orphanet:35705" . _:eef0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:35705" . a owl:Class; rdfs:subClassOf , , ; "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction."; ; , , , , , , ; "AADC deficiency"@en; "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction."@en; "orphanet"@en; "DOID:0090123", "GARD:0000770", "GARD:770", "ICD-10:G24.8", "ICD10:G24.8", "ICD9:270.8", "MESH:C537437", "MONDO:0012084", "NCIT:C142085", "OMIM:608643", "SCTID:237922009", "UMLS:C0342686", "UMLS:C1291564"; "AADC deficiency", "aromatic L-amino acid decarboxylase deficiency", "aromatic L-amino-acid decarboxylase deficiency"; "Aadc deficiency", "DDC deficiency", "Dopa decarboxylase deficiency", "aromatic amino acid decarboxylase deficiency"; "Orphanet:35708"; , ; rdfs:label "Aromatic L-amino acid decarboxylase deficiency", "Aromatic L-amino acid decarboxylase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency"^^xsd:anyURI; "ORPHA:35708" . _:eef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction."; "Orphanet:35708" . _:eef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090123"; "MONDO:equivalentTo" . _:eef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000770"; "MONDO:equivalentTo" . _:eef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:770"; "DOID:0090123" . _:eef9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22645; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22645 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.8"; "Attributed"@en . _:eefbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.8"; "NTBT (narrower term maps to a broader term)"@en . _:eefcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.8"; "DOID:0090123", "ORDO:35708/attributed", "ORDO:35708/ntbt", "Orphanet:35708" . _:eefdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:eefed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537437"; "MONDO:equivalentTo", "MONDO:ontobio" . _:eeffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C142085"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:ef00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608643"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ef01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608643"; "DOID:0090123", "MONDO:equivalentTo", "ORDO:35708/e", "Orphanet:35708" . _:ef03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237922009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.46/0.05" . _:ef04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342686"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ef05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1291564"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ef06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AADC deficiency"; "DOID:0090123", "Orphanet:35708" . _:ef09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aromatic L-amino acid decarboxylase deficiency"; "OMIM:608643" . _:ef0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aromatic L-amino acid decarboxylase deficiency"; rdfs:comment "preferred label from MONDO" . _:ef0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aromatic L-amino-acid decarboxylase deficiency"; "NCIT:C142085" . _:ef0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aadc deficiency"; "OMIM:608643" . _:ef15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DDC deficiency"; "OMIM:608643" . _:ef17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dopa decarboxylase deficiency"; "OMIM:608643" . _:ef19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aromatic amino acid decarboxylase deficiency"; "GARD:0000770" . _:ef1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000770" . _:ef1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:35708" . _:ef1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency"^^xsd:anyURI; "GARD:0000770" . a owl:Class; rdfs:subClassOf , ; "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections."; , , ; "SCID due to CARD11 deficiency"@en; "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections."@en; "orphanet"@en; "ICD-10:D81.2", "ICD10:D81.2", "MONDO:0014081", "OMIM:615206", "OMIM:617638", "UMLS:C3554686"; "SCID due to CARD11 deficiency", "immunodeficiency type 11", "severe combined immunodeficiency due to CARD11 deficiency"; "CARD11 immunodeficiency", "IMD11", "IMD11A", "immunodeficiency 11", "immunodeficiency 11; IMD11", "immunodeficiency 11; IMD11A"; "Orphanet:357237"; ; rdfs:label "Severe combined immunodeficiency due to CARD11 deficiency", "Severe combined immunodeficiency due to CARD11 deficiency"@en; "ORPHA:357237" . _:ef1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections."; "Orphanet:357237" . _:ef20d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22669; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22669 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:ef21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:ef25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:357237/attributed", "ORDO:357237/ntbt", "Orphanet:357237" . _:ef26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615206"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ef28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615206"; "MONDO:equivalentTo", "ORDO:357237/e", "Orphanet:357237" . _:ef2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617638"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:ef2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3554686"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:615206" . _:ef2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to CARD11 deficiency"; "Orphanet:357237" . _:ef2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 11"; "MONDORULE:2", "OMIM:615206" . _:ef2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to CARD11 deficiency"; rdfs:comment "preferred label from MONDO" . _:ef33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARD11 immunodeficiency"; "OMIM:615206" . _:ef34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD11"; "MONDO:Lexical", "OMIM:615206" . _:ef37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD11A"; "OMIM:615206" . _:ef38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 11"; "MONDO:Lexical", "OMIM:615206" . _:ef3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 11; IMD11"; "OMIM:615206" . _:ef3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 11; IMD11A"; "OMIM:615206" . _:ef3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:357237" . a owl:Class; rdfs:subClassOf , ; , , ; "A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection."@en; "orphanet"@en; "ICD-10:D81.8", "ICD10:D81.8", "MONDO:0014082", "OMIM:615207", "UMLS:C3554687"; "cryptosporidiosis-chronic cholangitis-liver disease syndrome"; "IL21R immunodeficiency", "IMD56", "immunodeficiency 56", "immunodeficiency 56; IMD56"; "Orphanet:357329"; ; rdfs:label "Combined immunodeficiency due to IL21R deficiency"@en, "Cryptosporidiosis - chronic cholangitis - liver disease"; "ORPHA:357329" . _:ef59d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22687; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22687 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:ef5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:ef5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:357329/attributed", "ORDO:357329/ntbt", "Orphanet:357329" . _:ef5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615207"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ef5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615207"; "MONDO:equivalentTo", "ORDO:357329/e", "Orphanet:357329" . _:ef60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3554687"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:615207" . _:ef62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cryptosporidiosis-chronic cholangitis-liver disease syndrome"; rdfs:comment "preferred label from MONDO" . _:ef63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IL21R immunodeficiency"; "OMIM:615207" . _:ef64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD56"; "OMIM:615207" . _:ef65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 56"; "OMIM:615207" . _:ef68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 56; IMD56"; "OMIM:615207" . _:ef69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:357329" . a owl:Class; rdfs:subClassOf ; "A renal or urinary tract malformation that is not part of a larger syndrome."; ; "Orphanet:93546"; "isolated congenital anomaly of kidney and urinary tract", "non-syndromic renal or urinary tract malformation", "nonsyndromic congenital anomaly of kidney and urinary tract", "nonsyndromic renal or urinary tract malformation"; "isolated renal or urinary tract malformation"; "Orphanet:357506"; ; rdfs:label "Genetic non-syndromic renal or urinary tract malformation" . _:ef6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A renal or urinary tract malformation that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:ef70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:93546"; "MONDO:equivalentTo" . _:ef7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic renal or urinary tract malformation"; rdfs:comment "preferred label from MONDO" . _:ef7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic congenital anomaly of kidney and urinary tract"; "MONDO:patterns/isolated" . _:ef80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic renal or urinary tract malformation"; "MONDO:DesignPattern", "MONDO:patterns/isolated" . _:ef83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated renal or urinary tract malformation"; "MONDO:DesignPattern" . _:ef87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93546" . a owl:Class; rdfs:subClassOf , , , ; "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion."; ; , , , , , , , ; "Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria"@en; "A rare genetic renal salt-losing tubular disease, that is characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria."@en; "orphanet"@en; "DOID:0050450", "GARD:0008547", "ICD-10:N15.8", "ICD10:N15.8", "ICD9:275.49", "MESH:D053579", "MONDO:0009904", "MSH:D053579", "MeSH:D053579", "MedDRA:10062906", "NCIT:C84730", "OMIM:263800", "SCTID:707756004", "UMLS:C0268450"; "Gitelman syndrome", "Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria", "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria", "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria"; "GTLMNS", "Gitelman syndrome; GTLMNS", "Gitelman's syndrome", "Potassium and magnesium depletion", "familial hypokalemia-hypomagnesemia"; "Orphanet:358"; , ; rdfs:label "Gitelman syndrome", "Gitelman syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome"^^xsd:anyURI; "ORPHA:358" . _:ef8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion."; "Orphanet:358" . _:ef8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050450"; "MONDO:equivalentTo" . _:ef90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008547"; "MONDO:equivalentTo" . _:ef91d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22710; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22710 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N15.8"; "Attributed"@en . _:ef92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N15.8"; "NTBT (narrower term maps to a broader term)"@en . _:ef93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N15.8"; "ORDO:358/attributed", "ORDO:358/ntbt", "Orphanet:358" . _:ef94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.49"; "MONDO:relatedTo", "i2s" . _:ef98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D053579"; "DOID:0050450", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:358/e", "Orphanet:358" . _:ef9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D053579"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ef9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062906"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ef9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062906"; "ORDO:358/e", "Orphanet:358" . _:ef9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84730"; "DOID:0050450", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:efa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:263800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:efa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:263800"; "DOID:0050450", "MONDO:equivalentTo", "ORDO:358/e", "Orphanet:358" . _:efa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:707756004"; "DOID:0050450", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.48" . _:efa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268450"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:efa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268450"; "DOID:0050450", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84730", "OMIM:263800", "ORDO:358/e", "Orphanet:358" . _:efa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gitelman syndrome"; "OMIM:263800" . _:efa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gitelman syndrome"; rdfs:comment "preferred label from MONDO" . _:efafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria"; "DOID:0050450", "OMIM:263800" . _:efb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria"; "Orphanet:358" . _:efb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTLMNS"; "OMIM:263800" . _:efb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gitelman syndrome; GTLMNS"; "OMIM:263800" . _:efb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gitelman's syndrome"; "GARD:0008547" . _:efb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Potassium and magnesium depletion"; "OMIM:263800" . _:efb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypokalemia-hypomagnesemia"; "GARD:0008547" . _:efbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0008547" . _:efbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:358" . _:efc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome"^^xsd:anyURI; "GARD:0008547" . a owl:Class; rdfs:subClassOf , , , ; "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.", "Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae."; , , , , , ; "HI/HA syndrome"@en; "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur."@en; "orphanet", "orphanet"@en; "DOID:0070217", "GARD:0009931", "ICD-10:E72.8", "ICD10:E72.8", "MESH:C538375", "MONDO:0011717", "NCIT:C131832", "OMIM:606762", "UMLS:C1847555"; "GDH hyperinsulinism", "GLUD1 hyperinsulinism", "HI/HA syndrome", "glutamate dehydrogenase 1 hyperinsulinism", "hi/HA syndrome", "hyperinsulinemic hypoglycemia, familial, type 6", "hyperinsulinism-hyperammonemia syndrome", "hyperinsulinism/hyperammonemia syndrome"; "HA/hi syndrome", "HHF6", "hyperinsulinemic hypoglycemia familial 6", "hyperinsulinemic hypoglycemia, familial, 6", "hyperinsulinemic hypoglycemia, familial, 6; HHF6", "hyperinsulinism hyperammonemia syndrome"; "Orphanet:35878"; , ; rdfs:label "Hyperinsulinism-hyperammonemia syndrome", "Hyperinsulinism-hyperammonemia syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome"^^xsd:anyURI; "ORPHA:35878" . _:efc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur."; "Orphanet:35878" . _:efc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070217"; "MONDO:equivalentTo" . _:efc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009931"; "MONDO:equivalentTo" . _:efcad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22740; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22740 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "Attributed"@en . _:efcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "NTBT (narrower term maps to a broader term)"@en . _:efccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.8"; "ORDO:35878/attributed", "ORDO:35878/ntbt", "Orphanet:35878" . _:efcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538375"; "MONDO:equivalentTo", "MONDO:ontobio" . _:efcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131832"; "MONDO:equivalentTo" . _:efd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606762"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:efd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606762"; "MONDO:equivalentTo", "ORDO:35878/e", "Orphanet:35878" . _:efd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1847555"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:606762" . _:efd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GDH hyperinsulinism"; "NCIT:C131832" . _:efdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLUD1 hyperinsulinism"; "NCIT:C131832" . _:efded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutamate dehydrogenase 1 hyperinsulinism"; "NCIT:C131832" . _:efe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hi/HA syndrome"; "Orphanet:35878" . _:efe3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, type 6"; "MONDORULE:1", "OMIM:606762" . _:efe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism-hyperammonemia syndrome"; "OMIM:606762" . _:efe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism-hyperammonemia syndrome"; rdfs:comment "preferred label from MONDO" . _:efe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism/hyperammonemia syndrome"; "NCIT:C131832" . _:efe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HA/hi syndrome"; "GARD:0009931" . _:efead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHF6"; "MONDO:Lexical", "OMIM:606762" . _:efecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia familial 6"; "GARD:0009931" . _:efeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 6"; "MONDO:Lexical", "OMIM:606762" . _:efefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 6; HHF6"; "OMIM:606762" . _:eff0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism hyperammonemia syndrome"; "GARD:0009931" . _:eff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009931" . _:eff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:35878" . _:eff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome"^^xsd:anyURI; "GARD:0009931" . a owl:Class; rdfs:subClassOf ; "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication."@en; "orphanet"@en; "ICD-10:T40.0", "ICD-10:T40.1", "ICD-10:T40.2"; rdfs:label "Acute opioid poisoning"@en; "ORPHA:35889" . _:eff7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T40.0"; "BTNT (broader term maps to a narrower term)"@en . _:eff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T40.1"; "BTNT (broader term maps to a narrower term)"@en . _:effad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T40.2"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf , , ; "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.", "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome; see these terms). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities."; , , ; ; "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities."@en; "orphanet", "orphanet"@en; "GARD:0002486", "MESH:C580055", "MONDO:0018174", "UMLS:CN227278"; "hereditary glaucoma", "hereditary glaucoma (disease)"; "glaucoma, hereditary"; "Orphanet:359"; , ; rdfs:label "Hereditary glaucoma", "Hereditary glaucoma"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary"^^xsd:anyURI; "ORPHA:359" . _:effbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome; see these terms). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities."; "Orphanet:359" . _:effcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:359" . _:efffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002486"; "MONDO:equivalentTo" . _:f000d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580055"; "MONDO:equivalentTo", "MONDO:ontobio" . _:f004d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227278"; "MONDO:equivalentTo" . _:f005d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary glaucoma"; rdfs:comment "preferred label from MONDO" . _:f007d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary glaucoma (disease)"; "MONDO:patterns/hereditary" . _:f009d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glaucoma, hereditary"; "GARD:0002486" . _:f00bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002486" . _:f00cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:359" . _:f00dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary"^^xsd:anyURI; "GARD:0002486" . a owl:Class; rdfs:subClassOf , ; "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms."; , , ; "F5F8D"@en, "FV and FVIII combined deficiency"@en, "Familial multiple coagulation factor deficiency"@en; "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms."@en; "orphanet", "orphanet"@en; "DC:0000517", "ICD-10:D68.8", "ICD10:D68.8", "MONDO:0018175", "OMIM:227300", "OMIM:227310", "OMIM:613625", "SCTID:715559004", "UMLS:C1856883"; "F5F8D", "FV and FVIII combined deficiency", "Familial multiple coagulation factor deficiency", "combined deficiency of factor V and factor VIII", "combined deficiency of factor V and factor type VIII", "familial multiple coagulation factor deficiency"; "Orphanet:35909"; ; rdfs:label "Combined deficiency of factor V and factor VIII", "Combined deficiency of factor V and factor VIII"@en; "ORPHA:35909" . _:f017d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms."; "Orphanet:35909" . _:f018d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000517"; "MONDO:equivalentTo" . _:f01ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22782; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.8"; "Attributed"@en . _:f01bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.8"; "NTBT (narrower term maps to a broader term)"@en . _:f01ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.8"; "ORDO:35909/attributed", "ORDO:35909/ntbt", "Orphanet:35909" . _:f021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227300"; "BTNT (broader term maps to a narrower term)"@en . _:f022d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227310"; "BTNT (broader term maps to a narrower term)"@en . _:f023d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613625"; "BTNT (broader term maps to a narrower term)"@en . _:f025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715559004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:f026d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1856883"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f027d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1856883"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:35909" . _:f028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F5F8D"; "Orphanet:35909" . _:f029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FV and FVIII combined deficiency"; "Orphanet:35909" . _:f02ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined deficiency of factor V and factor VIII"; rdfs:comment "preferred label from MONDO" . _:f02dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined deficiency of factor V and factor type VIII"; "MONDORULE:3", "Orphanet:35909" . _:f02fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial multiple coagulation factor deficiency"; "Orphanet:35909" . _:f030d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:35909" . a owl:Class; rdfs:subClassOf ; "GBM"@en, "Glioblastoma multiforme"@en; "Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification)."@en; "orphanet"@en; "ICD-10:C71.9", "MeSH:D005909", "MedDRA:10018336", "MedDRA:10018337", "OMIM:137800", "OMIM:613029", "UMLS:C0017636", "UMLS:C1621958"; rdfs:label "Glioblastoma"@en; "ORPHA:360" . _:f036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C71.9"; "NTBT (narrower term maps to a broader term)"@en . _:f037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D005909"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018336"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f03bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018337"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f03cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137800"; "NTBT (narrower term maps to a broader term)"@en . _:f046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613029"; "NTBT (narrower term maps to a broader term)"@en . _:f047d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017636"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f048d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1621958"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency."; , , , ; "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency."@en; "orphanet"@en; "glucocorticoid deficiency"; "GARD:0002498", "ICD-10:E27.1", "ICD10:E27.1", "MESH:C565974", "MONDO:0008733", "OMIM:202200", "OMIM:202355", "OMIM:607398", "OMIM:609197", "OMIM:614736", "OMIM:617825", "OMIMPS:202200", "SCTID:765326001", "UMLS:CN204661"; "ACTH resistance", "familial glucocorticoid deficiency"; "GCCD"; "Orphanet:361"; , ; rdfs:label "Familial glucocorticoid deficiency", "Familial glucocorticoid deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency"^^xsd:anyURI; "ORPHA:361" . _:f04ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency."; "Orphanet:361" . _:f04cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucocorticoid deficiency"; "MONDO:Lexical", "MONDORULE:1", "OMIM:202200" . _:f04ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002498"; "MONDO:equivalentTo" . _:f04fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22809; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22809 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E27.1"; "Attributed"@en . _:f052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E27.1"; "NTBT (narrower term maps to a broader term)"@en . _:f053d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E27.1"; "ORDO:361/attributed", "ORDO:361/ntbt", "Orphanet:361" . _:f059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C565974"; "MONDO:equivalentTo", "MONDO:ontobio" . _:f05ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f05cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202355"; "BTNT (broader term maps to a narrower term)"@en . _:f05ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607398"; "BTNT (broader term maps to a narrower term)"@en . _:f060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609197"; "BTNT (broader term maps to a narrower term)"@en . _:f061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614736"; "BTNT (broader term maps to a narrower term)"@en . _:f062d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617825"; "BTNT (broader term maps to a narrower term)"@en . _:f064d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:202200"; "MONDO:equivalentTo" . _:f065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:765326001"; "MONDO:equivalentTo" . _:f067d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204661"; "MONDO:equivalentTo" . _:f069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial glucocorticoid deficiency"; rdfs:comment "preferred label from MONDO" . _:f06ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCCD"; "MONDO:Lexical", "OMIM:202200" . _:f06ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0002498" . _:f071d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:361" . _:f072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency"^^xsd:anyURI; "GARD:0002498" . a owl:Class; rdfs:subClassOf ; "Thromboangiitis obliterans"@en; "Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco."@en; "orphanet"@en; "ICD-10:I73.1", "OMIM:211480", "UMLS:C0040021"; rdfs:label "Buerger disease"@en; "ORPHA:36258" . _:f09cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I73.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f0a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:211480"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f0a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040021"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Borrmann gastric cancer type 4"@en, "Linitis plastica of the stomach"@en; "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma."@en; "orphanet"@en; "ICD-10:C16.9"; rdfs:label "Gastric linitis plastica"@en; "ORPHA:36273" . _:f0a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C16.9"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; "UMLS:C0158632"; rdfs:label "Congenital anomaly of the great veins"@en; "ORPHA:363189" . _:f0a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0158632"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD10:E34.8"; rdfs:label "Genetic progeroid syndrome" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018187", "UMLS:CN204685"; "genetic syndromic Pierre Robin syndrome"; "Orphanet:363294"; ; rdfs:label "Genetic syndromic Pierre Robin syndrome" . _:f0a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204685"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:f0a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic syndromic Pierre Robin syndrome"; rdfs:comment "preferred label from MONDO" . _:f0aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:363294" . a owl:Class; rdfs:subClassOf , ; "Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium."; ; "Orphanet:73014"; "IDI", "intractable diarrhea of infancy"; "Orphanet:363300"; ; rdfs:label "Genetic intractable diarrhea of infancy" . _:f0abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium."; "Orphanet:73014" . _:f0acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:73014"; "MONDO:equivalentTo" . _:f0aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDI"; "Orphanet:73014" . _:f0b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intractable diarrhea of infancy"; rdfs:comment "preferred label from MONDO" . _:f0b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:73014" . a owl:Class; rdfs:subClassOf , , , ; , ; "ICD10:D12.6", "MONDO:0018188", "UMLS:C2713443"; "Familial intestinal polyposis", "familial intestinal polyposis", "genetic intestinal polyposis"; "Orphanet:363314"; ; rdfs:label "Genetic intestinal polyposis" . _:f0b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D12.6"; "ORDO:363314/attributed", "ORDO:363314/ntbt", "Orphanet:363314" . _:f0b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2713443"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "Orphanet:363314" . _:f0bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial intestinal polyposis"; "Orphanet:363314" . _:f0bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic intestinal polyposis"; rdfs:comment "preferred label from MONDO" . _:f0bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:363314" . a owl:Class; rdfs:subClassOf , , , ; "Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)."; , , , , , ; "GEFS+"@en; "Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)."@en; "orphanet", "orphanet"@en; "DOID:0060170", "ICD-10:G40.3", "ICD10:G40.3", "MESH:C565808", "MONDO:0018214", "NCIT:C122811", "OMIM:604233", "OMIM:604403", "OMIM:609800", "OMIM:611277", "OMIM:612279", "OMIM:613060", "OMIM:613828", "OMIM:613863", "OMIM:616172", "OMIMPS:604233", "SCTID:699688008", "UMLS:C3502809"; "GEFS+", "epilepsy, generalized, with febrile seizures plus", "generalized epilepsy with febrile seizures plus"; "generalized epilepsy with febrile seizures-plus"; "Orphanet:36387"; ; rdfs:label "Generalized epilepsy with febrile seizures-plus", "Generalized epilepsy with febrile seizures-plus"@en; "ORPHA:36387" . _:f0c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)."; "Orphanet:36387" . _:f0c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060170"; "MONDO:equivalentTo" . _:f0c9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22848; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22848 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.3"; "Attributed"@en . _:f0ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G40.3"; "NTBT (narrower term maps to a broader term)"@en . _:f0cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.3"; "DOID:0060170", "ORDO:36387/attributed", "ORDO:36387/ntbt", "Orphanet:36387" . _:f0d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C565808"; "MONDO:equivalentTo", "MONDO:ontobio" . _:f0d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122811"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:f0d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604233"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f0d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604403"; "BTNT (broader term maps to a narrower term)"@en . _:f0d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609800"; "BTNT (broader term maps to a narrower term)"@en . _:f0dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611277"; "BTNT (broader term maps to a narrower term)"@en . _:f0dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612279"; "BTNT (broader term maps to a narrower term)"@en . _:f0ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613060"; "NTBT (narrower term maps to a broader term)"@en . _:f0dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613828"; "BTNT (broader term maps to a narrower term)"@en . _:f0e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613863"; "BTNT (broader term maps to a narrower term)"@en . _:f0e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616172"; "BTNT (broader term maps to a narrower term)"@en . _:f0e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616172"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:f0e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:604233"; "MONDO:cjm", "MONDO:equivalentTo" . _:f0e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:699688008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:f0ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3502809"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f0ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3502809"; "MONDO:equivalentTo", "NCIT:C122811", "Orphanet:36387" . _:f0ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEFS+"; "DOID:0060170", "Orphanet:36387" . _:f0eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epilepsy, generalized, with febrile seizures plus"; "OMIMPS:604233" . _:f0efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalized epilepsy with febrile seizures plus"; rdfs:comment "preferred label from MONDO" . _:f0f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalized epilepsy with febrile seizures-plus"; "Orphanet:36387" . _:f0f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:36387" . a owl:Class; rdfs:subClassOf , , ; "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL."; , , , ; "CBL syndrome"@en, "Noonan syndrome-like disorder with JMML"@en; "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated."@en; "orphanet"@en; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0013308", "OMIM:613563", "UMLS:C3150803", "UMLS:C4016301"; "CBL syndrome", "CBL-related disorder", "Cbl syndrome", "Noonan syndrome-like disorder with JMML", "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia", "Noonan-like syndrome"; "Cbl mutation-associated syndrome", "NSLL", "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia", "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NSLL"; "Orphanet:363972"; ; rdfs:label "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia", "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"@en; "ORPHA:363972" . _:f102d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL."; "PMID:20619386", "PMID:21901340", "PMID:24458550", "PMID:25283271", "PMID:25358541", "PMID:25952305", "PMID:26911351", "PMID:28343148", "PMID:28414188", "PMID:28589114", "PMID:29259247" . _:f103d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22874; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22874 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:f106d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:f108d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:363972/attributed", "ORDO:363972/ntbt", "Orphanet:363972" . _:f10bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613563"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f10dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613563"; "MONDO:equivalentTo", "ORDO:363972/e", "Orphanet:363972" . _:f10fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3150803"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613563" . _:f111d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4016301"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f112d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBL-related disorder"; rdfs:comment "preferred label from MONDO" . _:f113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cbl syndrome"; "OMIM:613563", "Orphanet:363972" . _:f116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome-like disorder with JMML"; "Orphanet:363972" . _:f117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cbl mutation-associated syndrome"; "OMIM:613563" . _:f118d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSLL"; "MONDO:Lexical", "OMIM:613563" . _:f11bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"; "MONDO:Lexical", "OMIM:613563" . _:f11cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NSLL"; "OMIM:613563" . _:f11fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:363972" . a owl:Class; rdfs:subClassOf , , , , ; "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver."; , , ; , , , , , , ; "G6P deficiency"@en, "GSD due to G6P deficiency"@en, "GSD type 1"@en, "GSD type I"@en, "Glycogen storage disease due to G6P deficiency"@en, "Glycogen storage disease type 1"@en, "Glycogen storage disease type I"@en, "Glycogenosis type 1"@en, "Glycogenosis type I"@en, "Hepatorenal glycogenosis"@en, "Von Gierke disease"@en; "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver."@en; "orphanet", "orphanet"@en; "MONDO:0018220"; "DOID:2749", "ICD-10:E74.0", "ICD10:E74.0", "ICD10:E74.01", "MESH:D005953", "MONDO:0002413", "MSH:D005953", "MedDRA:10018464", "NCIT:C84733", "OMIM:232200", "OMIM:232220", "OMIM:232240", "SCTID:7265005", "UMLS:C0017920", "UMLS:C2919796"; "G6P deficiency", "GSD due to G6P deficiency", "GSD type 1", "GSD type I", "GSD1", "Glycogen Storage Disease Type I", "Glycogen storage disease due to G6P deficiency", "Glycogen storage disease type 1", "Glycogen storage disease, type I (disorder)", "Glycogenosis type 1", "Hepatorenal glycogenosis", "Von Gierke disease", "deficiency of glucose-6-phosphatase", "glycogen storage disease I", "glycogen storage disease due to G6P deficiency", "glycogen storage disease due to glucose-6-phosphatase deficiency", "glycogen storage disease type 1", "glycogen storage disease type I", "glycogen storage disease, type I", "glycogenosis type 1", "glycogenosis type I", "hepatorenal glycogenosis", "von Gierke disease", "von Gierke's disease"; "Orphanet:364"; ; rdfs:label "Glycogen storage disease due to glucose-6-phosphatase deficiency", "Glycogen storage disease due to glucose-6-phosphatase deficiency"@en; "ORPHA:364" . _:f124d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver."; "Orphanet:364" . _:f126d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2749"; "MONDO:equivalentTo" . _:f127d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22892; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f12cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:f12ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:364/inclusion", "ORDO:364/ntbt", "Orphanet:364" . _:f131d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.01"; "DOID:2749", "MONDO:equivalentTo" . _:f132d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005953"; "DOID:2749", "MONDO:directSiblingOf", "MONDO:equivalentTo" . _:f133d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018464"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018464"; "ORDO:364/e", "Orphanet:364" . _:f139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84733"; "DOID:2749", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.85/0.08" . _:f13bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232200"; "BTNT (broader term maps to a narrower term)"@en . _:f13ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232220"; "BTNT (broader term maps to a narrower term)"@en . _:f140d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232240"; "BTNT (broader term maps to a narrower term)"@en . _:f142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:7265005"; "DOID:2749", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.78/0.43" . _:f143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017920"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2919796"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G6P deficiency"; "Orphanet:364" . _:f148d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to G6P deficiency"; "Orphanet:364" . _:f14ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 1"; "Orphanet:364" . _:f14cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type I"; "Orphanet:364" . _:f14dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of glucose-6-phosphatase"; "DOID:2749" . _:f150d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease I"; rdfs:comment "preferred label from MONDO" . _:f151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to G6P deficiency"; "Orphanet:364" . _:f153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to glucose-6-phosphatase deficiency"; "Orphanet:364" . _:f155d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 1"; "Orphanet:364" . _:f156d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type I"; "DOID:2749", "MONDORULE:1", "Orphanet:364" . _:f158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease, type I"; "DOID:2749", "https://www.ncbi.nlm.nih.gov/books/NBK1312/" . _:f15cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type 1"; "Orphanet:364", "https://www.ncbi.nlm.nih.gov/books/NBK1312/" . _:f161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type I"; "CSP2005:1849-3779", "DOID:2749", "Orphanet:364", "https://www.ncbi.nlm.nih.gov/books/NBK1312/" . _:f162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatorenal glycogenosis"; "Orphanet:364" . _:f163d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Gierke disease"; "DOID:2749", "Orphanet:364", "https://www.ncbi.nlm.nih.gov/books/NBK1312/" . _:f166d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Gierke's disease"; "DOID:2749", "MTHICD9_2006:271.0", "https://www.ncbi.nlm.nih.gov/books/NBK1312/" . _:f169d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364" . a owl:Class; rdfs:subClassOf ; "Anti-C1q vasculitis"@en, "Mac Duffie hypocomplementemic urticarial vasculitis"@en, "Mac Duffie syndrome"@en, "McDuffie hypocomplementemic urticarial vasculitis"@en, "McDuffie syndrome"@en; "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations."@en; "orphanet"@en; "ICD-10:M31.8"; rdfs:label "Hypocomplementemic urticarial vasculitis"@en; "ORPHA:36412" . _:f16fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.8"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Dermatostomatitis, Stevens Johnson type"@en; "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area."@en; "orphanet"@en; "ICD-10:L51.1", "MeSH:D013262", "MedDRA:10042033", "OMIM:608579", "UMLS:C0038325"; rdfs:label "Stevens-Johnson syndrome"@en; "ORPHA:36426" . _:f170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L51.1"; "NTBT (narrower term maps to a broader term)"@en . _:f171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013262"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10042033"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608579"; "NTBT (narrower term maps to a broader term)"@en . _:f176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0038325"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; ; , ; "Primary osteodysplasia"@en, "Primary skeletal dysplasia"@en; "MONDO:0018230"; "Primary osteodysplasia", "Primary skeletal dysplasia", "primary bone dysplasia", "primary osteodysplasia", "primary skeletal dysplasia"; "Orphanet:364526"; ; rdfs:comment "Editor note: ORDO has these as genetic, but some forms may not be genetic - check this"; rdfs:label "Primary bone dysplasia", "Primary bone dysplasia"@en; "ORPHA:364526" . _:f17bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364526" . _:f17cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364526" . _:f17dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary bone dysplasia"; rdfs:comment "preferred label from MONDO" . _:f17ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary osteodysplasia"; "Orphanet:364526" . _:f180d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary skeletal dysplasia"; "Orphanet:364526" . _:f181d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364526" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0018232"; "Primary osteodysplasia with micromelia", "Primary skeletal dysplasia with micromelia", "primary bone dysplasia with micromelia", "primary osteodysplasia with micromelia", "primary skeletal dysplasia with micromelia"; "Orphanet:364536"; ; rdfs:label "Primary bone dysplasia with micromelia" . _:f183d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary bone dysplasia with micromelia"; rdfs:comment "preferred label from MONDO" . _:f185d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary osteodysplasia with micromelia"; "Orphanet:364536" . _:f187d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary skeletal dysplasia with micromelia"; "Orphanet:364536" . _:f189d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364536" . a owl:Class; rdfs:subClassOf , ; "UMLS:C0013393"; rdfs:label "Dysostosis"@en; "ORPHA:364559" . _:f18ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013393"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Dysostosis with limb anomaly as a major feature"@en; "ORPHA:364568" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0018236"; "dysostosis with limb and face anomalies as a major feature"; "Orphanet:364571"; , ; rdfs:label "Dysostosis with limb and face anomalies as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:f18dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysostosis with limb and face anomalies as a major feature"; rdfs:comment "preferred label from MONDO" . _:f190d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364571" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018238", "UMLS:CN204768"; "rare bone disease related to a common gene or pathway defect"; "Orphanet:364803"; , ; rdfs:label "Rare bone disease related to a common gene or pathway defect"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:f196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204768"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bone disease related to a common gene or pathway defect"; rdfs:comment "preferred label from MONDO" . _:f198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:364803" . a owl:Class; rdfs:subClassOf , , , , , , ; "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal."; , , , , , , , ; , , , , , , , , , ; "Alpha-1,4-glucosidase acid deficiency"@en, "GSD due to acid maltase deficiency"@en, "GSD type 2"@en, "GSD type II"@en, "Glycogen storage disease type 2"@en, "Glycogen storage disease type II"@en, "Glycogenosis due to acid maltase deficiency"@en, "Glycogenosis type 2"@en, "Glycogenosis type II"@en, "Pompe disease"@en; "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal."@en; "orphanet", "orphanet"@en; "DOID:2752", "GARD:0002503", "GARD:0005714", "ICD-10:E74.0", "ICD10:E74.0", "ICD10:E74.02", "MONDO:0009290", "MSH:D006009", "MeSH:D006009", "MedDRA:10053185", "NCIT:C84734", "OMIM:232300", "SCTID:274864009", "UMLS:C0017921", "UMLS:C1968741", "UMLS:C3695005"; "Alpha-1,4-glucosidase acid deficiency", "GAA glycogen storage disease", "GSD due to acid maltase deficiency", "GSD type 2", "GSD type II", "Glycogen storage disease type 2", "Glycogenosis due to acid maltase deficiency", "Glycogenosis type 2", "Pompe disease", "Pompe's disease", "acid maltase deficiency", "deficiency of glucoamylase", "deficiency of maltase", "generalized glycogenosis", "glycogen storage disease II", "glycogen storage disease caused by mutation in GAA", "glycogen storage disease type 2", "glycogen storage disease type II", "glycogen storage disease, type II", "glycogenosis due to acid maltase deficiency", "glycogenosis type 2", "glycogenosis type II", "glycogenosis, type 2", "lysosomal alpha-1,4-glucosidase deficiency"; "Aglucosidase alfa", "Alpha-1,4-glucosidase deficiency", "Cardiomegalia Glycogenica diffusa", "GAA deficiency", "GSD 2", "GSD II", "GSD2", "acid maltase deficiency disease", "deficiency of alpha-glucosidase", "deficiency of lysosomal alpha-glucosidase", "glucosidase acid-1,4-alpha deficiency", "glycogen storage disease 2", "glycogen storage disease II; GSD2", "glycogen storage disease due to acid maltase deficiency", "glycogenosis, generalized, Cardiac form"; "Orphanet:365"; , , ; rdfs:label "Glycogen storage disease due to acid maltase deficiency", "Glycogen storage disease due to acid maltase deficiency"@en; "ORPHA:365" . _:f1b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal."; "Orphanet:365" . _:f1bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2752"; "MONDO:equivalentTo" . _:f1bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002503"; "MONDO:equivalentTo" . _:f1bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005714"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:f1c0d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid22950; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid22950 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f1c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:f1c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:365/inclusion", "ORDO:365/ntbt", "Orphanet:365" . _:f1c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.02"; "DOID:2752" . _:f1c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006009"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f1c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053185"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f1cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053185"; "ORDO:365/e", "Orphanet:365" . _:f1cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84734"; "DOID:2752", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:f1d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f1d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232300"; "DOID:2752", "MONDO:equivalentTo", "ORDO:365/e", "Orphanet:365" . _:f1d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:274864009"; "MONDO:equivalentTo" . _:f1d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017921"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f1d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017921"; "DOID:2752", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84734", "OMIM:232300", "ORDO:365/e", "Orphanet:365" . _:f1d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1968741"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:f1dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3695005"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:f1dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-1,4-glucosidase acid deficiency"; "Orphanet:365" . _:f1dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAA glycogen storage disease"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:f1ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to acid maltase deficiency"; "Orphanet:365" . _:f1ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 2"; "Orphanet:365" . _:f1e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type II"; "Orphanet:365" . _:f1e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pompe disease"; "OMIM:232300", "Orphanet:365" . _:f1e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pompe's disease"; "DOID:2752" . _:f1e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acid maltase deficiency"; "CSP2005:1849-3836", "DOID:2752", "OMIM:232300" . _:f1e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of glucoamylase"; "DOID:2752" . _:f1e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of maltase"; "DOID:2752" . _:f1e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalized glycogenosis"; "DOID:2752" . _:f1e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease II"; "MONDO:Lexical", "OMIM:232300" . _:f1ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease II"; rdfs:comment "preferred label from MONDO" . _:f1ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease caused by mutation in GAA"; "MONDO:design_pattern" . _:f1efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 2"; "MONDORULE:1", "OMIM:232300", "Orphanet:365" . _:f1f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type II"; "DOID:2752", "MONDORULE:3", "Orphanet:365" . _:f1f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease, type II"; "DOID:2752" . _:f1f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to acid maltase deficiency"; "Orphanet:365" . _:f1f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type 2"; "Orphanet:365" . _:f1f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type II"; "Orphanet:365" . _:f1f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis, type 2"; "DOID:2752" . _:f1f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal alpha-1,4-glucosidase deficiency"; "DOID:2752" . _:f1f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aglucosidase alfa"; "GARD:0005714" . _:f1f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-1,4-glucosidase deficiency"; "OMIM:232300" . _:f1fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiomegalia Glycogenica diffusa"; "OMIM:232300" . _:f1fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAA deficiency"; "OMIM:232300" . _:f1fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD 2"; "OMIM:232300" . _:f1fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD II"; "GARD:0005714" . _:f201d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD2"; "MONDO:Lexical", "OMIM:232300" . _:f202d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acid maltase deficiency disease"; "GARD:0005714" . _:f203d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of alpha-glucosidase"; "GARD:0005714" . _:f206d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of lysosomal alpha-glucosidase"; "GARD:0005714" . _:f208d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucosidase acid-1,4-alpha deficiency"; "GARD:0002503" . _:f20ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease 2"; "OMIM:232300" . _:f20bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease II; GSD2"; "OMIM:232300" . _:f20dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to acid maltase deficiency"; "Orphanet:365" . _:f20fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis, generalized, Cardiac form"; "OMIM:232300" . _:f211d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:365" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:Q41.0", "MONDO:0018241", "UMLS:CN204780"; "primary short bowel syndrome"; "Orphanet:365563"; ; rdfs:label "Primary short bowel syndrome" . _:f213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q41.0"; "ORDO:365563/attributed", "ORDO:365563/ntbt", "Orphanet:365563" . _:f216d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204780"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:f218d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary short bowel syndrome"; rdfs:comment "preferred label from MONDO" . _:f21bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:365563" . a owl:Class; rdfs:subClassOf , , , ; "An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent."; "Amylo-1,6-glucosidase deficiency"@en, "Cori disease"@en, "Cori-Forbes disease"@en, "Forbes disease"@en, "GDE deficiency"@en, "GSD due to glycogen debranching enzyme deficiency"@en, "GSD type 3"@en, "GSDIII"@en, "Glycogen storage disease type 3"@en, "Glycogen storage disease type III"@en, "Glycogenosis due to glycogen debranching enzyme deficiency"@en, "Glycogenosis type 3"@en, "Glycogenosis type III"@en, "Limit dextrinosis"@en; "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."@en; "orphanet"@en; "DOID:2748", "ICD-10:E74.0", "ICD10:E74.0", "MSH:D006010", "MedDRA:10053250", "OMIM:232400", "UMLS:C0017922", "UMLS:C2936915"; "Amylo-1,6-glucosidase deficiency", "Cori disease", "Cori-Forbes disease", "Forbes disease", "GDE deficiency", "GSD due to glycogen debranching enzyme deficiency", "GSD type 3", "GSDIII", "Glycogen Storage Disease Type III", "Glycogen storage disease type 3", "Glycogen storage disease, type III (disorder)", "Glycogenosis due to glycogen debranching enzyme deficiency", "Glycogenosis type 3", "Limit dextrinosis", "amylo 1,6 glucosidase deficiency", "deficiency of debranching enzyme", "deficiency of dextrin", "glycogen storage disease III"; rdfs:label "Glycogen storage disease due to glycogen debranching enzyme deficiency", "Glycogen storage disease due to glycogen debranching enzyme deficiency"@en; "ORPHA:366" . _:f22fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23008; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23008 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:f231d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f232d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f233d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017922"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f234d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936915"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.", "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms)."; , , , , , ; , , , , , , , , ; "Amylopectinosis"@en, "Andersen disease"@en, "GSD due to glycogen branching enzyme deficiency"@en, "GSD type 4"@en, "GSD type IV"@en, "Glycogen storage disease type 4"@en, "Glycogen storage disease type IV"@en, "Glycogenosis due to glycogen branching enzyme deficiency"@en, "Glycogenosis type 4"@en, "Glycogenosis type IV"@en; "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms)."@en; "orphanet"@en; "DOID:2750", "GARD:0002520", "ICD-10:E74.0", "ICD10:E74.0", "ICD10:E74.09", "ICD9:277.6", "MONDO:0009292", "MSH:D006011", "MedDRA:10053249", "NCIT:C84737", "OMIM:232500", "OMIM:263570", "SCTID:124267007", "UMLS:C0017923", "UMLS:C1563715", "UMLS:CN204783"; "Amylopectinosis", "Andersen disease", "Andersen's disease", "Branching-transferase deficiency glycogenosis (disorder)", "GBE1 glycogen storage disease", "GSD due to glycogen branching enzyme deficiency", "GSD type 4", "GSD type IV", "Glycogen Storage Disease Type IV", "Glycogen storage disease type 4", "Glycogen storage disease, type IV (disorder)", "Glycogenosis due to glycogen branching enzyme deficiency", "Glycogenosis type 4", "amylopectinosis", "brancher deficiency glycogenosis", "branching-transferase deficiency glycogenosis", "deficiency of 1,4-alpha-glucan branching enzyme", "glycogen storage disease caused by mutation in GBE1", "glycogen storage disease due to glycogen branching enzyme deficiency", "glycogen storage disease type 4", "glycogen storage disease type IV", "glycogen storage disease, type IV", "glycogenosis due to glycogen branching enzyme deficiency", "glycogenosis type 4", "glycogenosis type IV"; "GSD 4", "GSD IV", "GSD IV, classic hepatic", "GSD IV, neuromuscular form, adult, with isolated myopathy", "GSD IV, neuromuscular form, childhood", "GSD IV, neuromuscular form, congenital", "GSD IV, neuromuscular form, fatal perinatal", "GSD IV, nonprogressive hepatic", "GSD4", "Gbe1 deficiency", "brancher deficiency", "cirrhosis, familial, with deposition of abnormal glycogen", "glycogen branching enzyme deficiency", "glycogen storage disease 4", "glycogen storage disease IV", "glycogen storage disease IV; GSD4", "glycogenosis 4"; "Orphanet:367"; ; rdfs:label "Glycogen storage disease due to glycogen branching enzyme deficiency", "Glycogen storage disease due to glycogen branching enzyme deficiency"@en; "ORPHA:367" . _:f23bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms)."; "Orphanet:367" . _:f23dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2750"; "MONDO:equivalentTo" . _:f23ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002520"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:f23fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23018; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23018 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f241d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:f244d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:367/inclusion", "ORDO:367/ntbt", "Orphanet:367" . _:f247d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.09"; "DOID:2750" . _:f248d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.6"; "MONDO:relatedTo", "i2s" . _:f24ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053249"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f24bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053249"; "ORDO:367/e", "Orphanet:367" . _:f24cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84737"; "DOID:2750", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:f24dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232500"; "BTNT (broader term maps to a narrower term)"@en . _:f24ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232500"; "DOID:2750", "MONDO:equivalentTo", "ORDO:367/btnt", "Orphanet:367" . _:f24fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:263570"; "BTNT (broader term maps to a narrower term)"@en . _:f250d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124267007"; "DOID:2750", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.08" . _:f251d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017923"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f252d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017923"; "DOID:2750", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84737", "OMIM:232500", "ORDO:367/e", "Orphanet:367" . _:f25bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1563715"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f25dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204783"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f25ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Andersen disease"; "OMIM:232500", "Orphanet:367" . _:f260d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GBE1 glycogen storage disease"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:f261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to glycogen branching enzyme deficiency"; "Orphanet:367" . _:f262d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 4"; "Orphanet:367" . _:f263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type IV"; "Orphanet:367" . _:f265d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amylopectinosis"; "DOID:2750", "MTHICD9_2006:271.0", "OMIM:232500", "Orphanet:367" . _:f266d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brancher deficiency glycogenosis"; "CSP2005:1849-3950", "DOID:2750" . _:f269d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "branching-transferase deficiency glycogenosis"; "DOID:2750" . _:f26ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of 1,4-alpha-glucan branching enzyme"; "DOID:2750" . _:f26bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease caused by mutation in GBE1"; "MONDO:design_pattern" . _:f26cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to glycogen branching enzyme deficiency"; rdfs:comment "preferred label from MONDO" . _:f26dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 4"; "MONDORULE:1", "OMIM:232500", "Orphanet:367" . _:f26fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type IV"; "DOID:2750", "MONDORULE:3", "Orphanet:367" . _:f270d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease, type IV"; "DOID:2750" . _:f271d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to glycogen branching enzyme deficiency"; "Orphanet:367" . _:f273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type 4"; "Orphanet:367" . _:f275d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type IV"; "Orphanet:367" . _:f278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD 4"; "OMIM:232500" . _:f27dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD IV"; "GARD:0002520" . _:f27ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD IV, classic hepatic"; "OMIM:232500" . _:f27fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD IV, neuromuscular form, adult, with isolated myopathy"; "OMIM:232500" . _:f281d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD IV, neuromuscular form, childhood"; "OMIM:232500" . _:f284d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD IV, neuromuscular form, congenital"; "OMIM:232500" . _:f285d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD IV, neuromuscular form, fatal perinatal"; "OMIM:232500" . _:f286d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD IV, nonprogressive hepatic"; "OMIM:232500" . _:f288d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD4"; "MONDO:Lexical", "OMIM:232500" . _:f289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gbe1 deficiency"; "OMIM:232500" . _:f28ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brancher deficiency"; "OMIM:232500" . _:f28bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cirrhosis, familial, with deposition of abnormal glycogen"; "OMIM:232500" . _:f28cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen branching enzyme deficiency"; "OMIM:232500" . _:f28dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease 4"; "OMIM:232500" . _:f28ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease IV"; "MONDO:Lexical", "OMIM:232500" . _:f28fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease IV; GSD4"; "OMIM:232500" . _:f292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis 4"; "OMIM:232500" . _:f293d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:367" . a owl:Class; rdfs:subClassOf , , ; "GSD due to muscle glycogen phosphorylase deficiency"@en, "GSD type 5"@en, "GSD type V"@en, "Glycogen storage disease type 5"@en, "Glycogen storage disease type V"@en, "Glycogenosis due to muscle glycogen phosphorylase deficiency"@en, "Glycogenosis type 5"@en, "Glycogenosis type V"@en, "McArdle disease"@en, "Myophosphorylase deficiency"@en; "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance."@en; "orphanet"@en; "ICD-10:E74.0", "ICD10:E74.0", "MSH:C537276", "MSH:D006012", "MeSH:C537276", "MeSH:D006012", "MedDRA:10018462", "OMIM:232600", "UMLS:C0017924", "UMLS:C2936916"; "GSD due to muscle glycogen phosphorylase deficiency", "GSD type 5", "Glycogen storage disease type 5", "Glycogenosis due to muscle glycogen phosphorylase deficiency", "Glycogenosis type 5", "McArdle disease", "Myophosphorylase deficiency"; rdfs:label "Glycogen storage disease due to muscle glycogen phosphorylase deficiency", "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"@en; "ORPHA:368" . _:f29dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23070; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23070 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f2a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:f2a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537276"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f2a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006012"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f2a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018462"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f2a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f2a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017924"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f2aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936916"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:E20.8", "UMLS:C0271865"; rdfs:label "Autoimmune hypoparathyroidism"@en; "ORPHA:36913" . _:f2abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.8"; "NTBT (narrower term maps to a broader term)"@en . _:f2acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271865"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , , ; "CblJ defects"@en, "Cobalamin J defect"@en, "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ"@en, "Methylmalonic aciduria with homocystinuria, type cblJ"@en; "GARD:0012621", "ICD-10:E71.1", "ICD10:E71.1", "MONDO:0013925", "OMIM:614857", "UMLS:C3553915"; "CblJ defects", "Cobalamin J defect", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ", "Methylmalonic aciduria with homocystinuria, type cblJ", "cblJ defects", "cobalamin J defect", "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ", "methylmalonic acidemia with homocystinuria, type cblJ", "methylmalonic aciduria with homocystinuria, type cblJ"; "MAHCJ", "methylmalonic acidemia with homocystinuria type cblJ", "methylmalonic aciduria and homocystinuria, cblJ type", "methylmalonic aciduria and homocystinuria, cblJ type; MAHCJ"; "Orphanet:369955"; , ; rdfs:label "Methylmalonic acidemia with homocystinuria, type cblJ", "Methylmalonic acidemia with homocystinuria, type cblJ"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj"^^xsd:anyURI; "ORPHA:369955" . _:f2b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012621"; "MONDO:equivalentTo" . _:f2b2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23082; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "Attributed"@en . _:f2b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.1"; "NTBT (narrower term maps to a broader term)"@en . _:f2b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.1"; "ORDO:369955/attributed", "ORDO:369955/ntbt", "Orphanet:369955" . _:f2b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614857"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f2b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614857"; "MONDO:equivalentTo", "ORDO:369955/e", "Orphanet:369955" . _:f2b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3553915"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614857" . _:f2bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cblJ defects"; "Orphanet:369955" . _:f2bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobalamin J defect"; "Orphanet:369955" . _:f2bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ"; "Orphanet:369955" . _:f2bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia with homocystinuria, type cblJ"; rdfs:comment "preferred label from MONDO" . _:f2bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria with homocystinuria, type cblJ"; "Orphanet:369955" . _:f2bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAHCJ"; "MONDO:Lexical", "OMIM:614857" . _:f2c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia with homocystinuria type cblJ"; "GARD:0012621" . _:f2c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria, cblJ type"; "GARD:0012621", "MONDO:Lexical", "OMIM:614857" . _:f2c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria, cblJ type; MAHCJ"; "OMIM:614857" . _:f2c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012621" . _:f2c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:369955" . _:f2c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj"^^xsd:anyURI; "GARD:0012621" . a owl:Class; rdfs:subClassOf , ; "Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)."; , , , , , , ; "GSD due to phosphorylase kinase deficiency"@en, "GSD type 9"@en, "GSD type IX"@en, "Glycogen storage disease due to PhK deficiency"@en, "Glycogen storage disease type 9"@en, "Glycogen storage disease type IX"@en, "Glycogenosis due to phosphorylase kinase deficiency"@en, "Glycogenosis type 9"@en, "Glycogenosis type IX"@en, "Gycogenosis due to PhK deficiency"@en; "Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)."@en; "orphanet", "orphanet"@en; "DOID:0050594", "ICD-10:E74.0", "ICD10:E74.0", "MESH:C580130", "MONDO:0018251", "NCIT:C122662", "OMIM:261740", "SCTID:235908005", "SCTID:40191005", "UMLS:C0268147"; "GSD IX", "GSD due to phosphorylase kinase deficiency", "GSD type 9", "GSD type IX", "GSDIX", "Glycogen storage disease due to PhK deficiency", "Glycogen storage disease type 9", "Glycogen storage disease type IX", "Glycogenosis due to phosphorylase kinase deficiency", "Glycogenosis type 9", "Glycogenosis type IX", "Gycogenosis due to PhK deficiency", "glycogen storage disease IX", "glycogen storage disease due to PhK deficiency", "glycogen storage disease due to phosphorylase kinase deficiency", "glycogen storage disease type 9", "glycogen storage disease type IX", "glycogenosis due to phosphorylase kinase deficiency", "glycogenosis type 9", "glycogenosis type IX", "gycogenosis due to PhK deficiency", "phosphorylase kinase deficiency"; "Orphanet:370"; ; rdfs:label "Glycogen storage disease due to phosphorylase kinase deficiency", "Glycogen storage disease due to phosphorylase kinase deficiency"@en; "ORPHA:370" . _:f2c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)."; "Orphanet:370" . _:f2c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050594"; "MONDO:equivalentTo" . _:f2cad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23103; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23103 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f2ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:f2cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:370/inclusion", "ORDO:370/ntbt", "Orphanet:370" . _:f2cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580130"; "MONDO:equivalentTo" . _:f2d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122662"; "MONDO:equivalentTo" . _:f2d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:235908005"; "MONDO:equivalentTo" . _:f2d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:40191005"; "MONDO:equivalentTo" . _:f2d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268147"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f2dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268147"; "MONDO:equivalentTo", "NCIT:C122662", "ORDO:370/e", "Orphanet:370" . _:f2dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD IX"; "https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix", "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to phosphorylase kinase deficiency"; "Orphanet:370" . _:f2dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 9"; "Orphanet:370" . _:f2e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type IX"; "Orphanet:370" . _:f2e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSDIX"; "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease IX"; "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to PhK deficiency"; "Orphanet:370" . _:f2ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to phosphorylase kinase deficiency"; rdfs:comment "preferred label from MONDO" . _:f2ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 9"; "Orphanet:370", "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type IX"; "DOID:0050594", "MONDORULE:3", "Orphanet:370", "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to phosphorylase kinase deficiency"; "Orphanet:370", "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type 9"; "Orphanet:370", "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type IX"; "Orphanet:370", "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gycogenosis due to PhK deficiency"; "Orphanet:370" . _:f2f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphorylase kinase deficiency"; "NCIT:C122662", "https://www.ncbi.nlm.nih.gov/books/NBK55061/" . _:f2f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:370" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018265", "UMLS:CN227296"; "rare disorder with dystonia and other neurologic or systemic manifestation"; "Orphanet:370106"; , ; rdfs:label "Rare disorder with dystonia and other neurologic or systemic manifestation"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:f2fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227296"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:f2fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disorder with dystonia and other neurologic or systemic manifestation"; rdfs:comment "preferred label from MONDO" . _:f300d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:370106" . a owl:Class; rdfs:subClassOf , , , , , ; "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections."; , ; , , , , , ; "Autoimmune enteropathy type 1"@en, "IPEX"@en; "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections."@en; "orphanet", "orphanet"@en; "DOID:0090110", "GARD:0001850", "GARD:1850", "ICD-10:E31.0", "ICD10:E31.0", "ICD9:250.81", "MESH:C580192", "MONDO:0010580", "NCIT:C131009", "OMIM:304790", "SCTID:237618001", "UMLS:C0342288"; "Autoimmune enteropathy type 1", "DMSD", "IDDM-secretory diarrhea syndrome", "IPEX", "X linked polyendocrinopathy", "X-linked autoimmunity-allergic dysregulation syndrome", "XLAAD", "XPID", "autoimmune enteropathy type 1", "autoimmunity-immunodeficiency syndrome, X-linked", "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea", "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked", "immune dysfunction and diarrhea syndrome", "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome", "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked", "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked"; "IDDM secretory diarrhea syndrome", "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked", "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked; IPEX", "IPEX syndrome", "Iddm-secretory diarrhea syndrome", "Immunodysregulation, polyendocrinopathy and enteropathy X-linked", "autoimmunity-immunodeficiency syndrome x-linked", "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy", "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly", "islets of Langerhans, absence of", "polyendocrinopathy, immune dysfunction and diarrhea x-linked", "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked"; "Orphanet:37042"; ; rdfs:label "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"@en; "ORPHA:37042" . _:f30cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections."; "Orphanet:37042" . _:f30dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090110"; "MONDO:equivalentTo" . _:f310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001850"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:f311d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:1850"; "DOID:0090110" . _:f312d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23136; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23136 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.0"; "Attributed"@en . _:f317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E31.0"; "NTBT (narrower term maps to a broader term)"@en . _:f319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.0"; "DOID:0090110", "MONDO:directSiblingOf", "ORDO:37042/attributed", "ORDO:37042/ntbt", "Orphanet:37042" . _:f31dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:250.81"; "MONDO:relatedTo", "i2s" . _:f31ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580192"; "MONDO:equivalentTo", "MONDO:ontobio" . _:f31fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/14.86" . _:f320d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:304790"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f321d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:304790"; "DOID:0090110", "MONDO:equivalentTo", "ORDO:37042/e", "Orphanet:37042" . _:f322d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237618001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.37/0.50" . _:f323d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342288"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f324d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMSD"; "DOID:0090110" . _:f328d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDDM-secretory diarrhea syndrome"; "DOID:0090110" . _:f32ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPEX"; "DOID:0090110", "MONDO:Lexical", "OMIM:304790", "Orphanet:37042" . _:f32cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X linked polyendocrinopathy"; "NCIT:C131009" . _:f32dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked autoimmunity-allergic dysregulation syndrome"; "DOID:0090110", "OMIM:304790" . _:f331d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XLAAD"; "DOID:0090110" . _:f335d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XPID"; "DOID:0090110" . _:f33cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune enteropathy type 1"; "DOID:0090110", "Orphanet:37042" . _:f33ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmunity-immunodeficiency syndrome, X-linked"; "DOID:0090110" . _:f33fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea"; "DOID:0090110" . _:f340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked"; "DOID:0090110" . _:f341d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune dysfunction and diarrhea syndrome"; "NCIT:C131009" . _:f342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome"; "NCIT:C131009" . _:f343d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"; rdfs:comment "preferred label from MONDO" . _:f344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked"; "DOID:0090110" . _:f346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked"; "DOID:0090110" . _:f347d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDDM secretory diarrhea syndrome"; "GARD:0001850" . _:f348d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked"; "MONDO:Lexical", "OMIM:304790" . _:f349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked; IPEX"; "OMIM:304790" . _:f34bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPEX syndrome"; "GARD:0001850" . _:f34cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Iddm-secretory diarrhea syndrome"; "OMIM:304790" . _:f34dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Immunodysregulation, polyendocrinopathy and enteropathy X-linked"; "GARD:0001850" . _:f34ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmunity-immunodeficiency syndrome x-linked"; "GARD:0001850" . _:f34fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy"; "OMIM:304790" . _:f358d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly"; "OMIM:304790" . _:f35ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "islets of Langerhans, absence of"; "OMIM:304790" . _:f35cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyendocrinopathy, immune dysfunction and diarrhea x-linked"; "GARD:0001850" . _:f360d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked"; "OMIM:304790" . _:f364d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:37042" . a owl:Class; rdfs:subClassOf ; , , ; "CMD due to dystroglycanopathy"@en; "DOID:0050588", "GARD:0012584", "ICD-10:G71.2", "ICD10:G71.2", "MONDO:0018276", "UMLS:CN229783"; "CMD due to dystroglycanopathy", "muscular dystrophy-dystroglycanopathy"; "congenital muscular dystrophy due to dystroglycanopathy"; "Orphanet:370953"; ; rdfs:label "Congenital muscular dystrophy due to dystroglycanopathy", "Congenital muscular dystrophy due to dystroglycanopathy"@en; "ORPHA:370953" . _:f36dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050588"; "MONDO:equivalentTo" . _:f36ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012584"; "MONDO:equivalentTo", "Orphanet-shared" . _:f374d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23178; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23178 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Attributed"@en . _:f378d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:f37ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "DOID:0050588", "ORDO:370953/attributed", "ORDO:370953/ntbt", "Orphanet:370953" . _:f37ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN229783"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:f380d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMD due to dystroglycanopathy"; "DOID:0050588", "ORDO:370953", "Orphanet:370953" . _:f381d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy-dystroglycanopathy"; rdfs:comment "preferred label from MONDO" . _:f382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital muscular dystrophy due to dystroglycanopathy"; "Orphanet:370953" . _:f384d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:370953" . a owl:Class; rdfs:subClassOf , , , ; "GSD due to muscle phosphofructokinase deficiency"@en, "GSD type 7"@en, "GSD type VII"@en, "Glycogen storage disease type 7"@en, "Glycogen storage disease type VII"@en, "Glycogenosis due to muscle phosphofructokinase deficiency"@en, "Glycogenosis type 7"@en, "Glycogenosis type VII"@en, "Tarui disease"@en; "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood."@en; "orphanet"@en; "ICD-10:E74.0", "ICD10:E74.0", "MedDRA:10053241", "OMIM:232800", "UMLS:C0017926"; "GSD due to muscle phosphofructokinase deficiency", "GSD type 7", "Glycogen storage disease type 7", "Glycogenosis due to muscle phosphofructokinase deficiency", "Glycogenosis type 7", "Tarui disease"; rdfs:label "Glycogen storage disease due to muscle phosphofructokinase deficiency", "Glycogen storage disease due to muscle phosphofructokinase deficiency"@en; "ORPHA:371" . _:f38cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23187; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23187 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f38fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:f390d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053241"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f392d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017926"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; ; ; "Alpha-dystroglycanopathy"@en, "Dystroglycanopathy"@en; "ICD-10:G71.2", "ICD10:G71.2", "MONDO:0018282", "UMLS:C2936406"; "Alpha-dystroglycanopathy", "Dystroglycanopathy", "dystroglycanopathy", "qualitative or quantitative defects of alpha-dystroglycan"; "Orphanet:371024"; ; rdfs:label "Qualitative or quantitative defects of alpha-dystroglycan", "Qualitative or quantitative defects of alpha-dystroglycan"@en; "ORPHA:371024" . _:f395d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23193; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23193 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Attributed"@en . _:f397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:f39dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "ORDO:371024/attributed", "ORDO:371024/ntbt", "Orphanet:371024" . _:f39ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936406"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f39fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-dystroglycanopathy"; "Orphanet:371024" . _:f3a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystroglycanopathy"; "Orphanet:371024" . _:f3a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "qualitative or quantitative defects of alpha-dystroglycan"; rdfs:comment "preferred label from MONDO" . _:f3a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371024" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:E77.8", "MONDO:0018284"; "CDG with neurological involvement", "congenital disorder of glycosylation with neurological involvement"; "Orphanet:371047"; ; rdfs:label "Congenital disorder of glycosylation with neurological involvement" . _:f3a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:371047/attributed", "ORDO:371047/ntbt", "Orphanet:371047" . _:f3a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDG with neurological involvement"; "Orphanet:371047" . _:f3a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital disorder of glycosylation with neurological involvement"; rdfs:comment "preferred label from MONDO" . _:f3a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371047" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:E77.8", "MONDO:0018286"; "Non-X-linked CDG with intellectual disability as a major feature", "non-X-linked CDG with intellectual disability as a major feature", "non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature"; "Orphanet:371064"; , ; rdfs:label "Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:f3acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:371064/attributed", "ORDO:371064/ntbt", "Orphanet:371064" . _:f3afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-X-linked CDG with intellectual disability as a major feature"; "Orphanet:371064" . _:f3b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature"; rdfs:comment "preferred label from MONDO" . _:f3b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371064" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:E77.8", "MONDO:0018287"; "CDG with epilepsy as a major feature", "congenital disorder of glycosylation with epilepsy as a major feature"; "Orphanet:371071"; , ; rdfs:label "Congenital disorder of glycosylation with epilepsy as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:f3c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:371071/attributed", "ORDO:371071/ntbt", "Orphanet:371071" . _:f3c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDG with epilepsy as a major feature"; "Orphanet:371071" . _:f3c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital disorder of glycosylation with epilepsy as a major feature"; rdfs:comment "preferred label from MONDO" . _:f3c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371071" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:E77.8", "MONDO:0018290"; "CDG with cardiac malformation as a major feature", "congenital disorder of glycosylation with cardiac malformation as a major feature"; "Orphanet:371183"; , ; rdfs:label "Congenital disorder of glycosylation with cardiac malformation as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:f3cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:371183/attributed", "ORDO:371183/ntbt", "Orphanet:371183" . _:f3ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDG with cardiac malformation as a major feature"; "Orphanet:371183" . _:f3cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital disorder of glycosylation with cardiac malformation as a major feature"; rdfs:comment "preferred label from MONDO" . _:f3d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371183" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:E77.8", "MONDO:0018292"; "CDG-related bone disorder", "congenital disorder of glycosylation-related bone disorder"; "Orphanet:371195"; ; rdfs:label "Congenital disorder of glycosylation-related bone disorder" . _:f3d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:371195/attributed", "ORDO:371195/ntbt", "Orphanet:371195" . _:f3d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDG-related bone disorder"; "Orphanet:371195" . _:f3d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital disorder of glycosylation-related bone disorder"; rdfs:comment "preferred label from MONDO" . _:f3dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371195" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:E77.8", "MONDO:0018293"; "CDG with skin involvement", "congenital disorder of glycosylation with skin involvement"; "Orphanet:371200"; ; rdfs:label "Congenital disorder of glycosylation with skin involvement" . _:f3ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:371200/attributed", "ORDO:371200/ntbt", "Orphanet:371200" . _:f3dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDG with skin involvement"; "Orphanet:371200" . _:f3e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital disorder of glycosylation with skin involvement"; rdfs:comment "preferred label from MONDO" . _:f3e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371200" . a owl:Class; rdfs:subClassOf , ; ; "GARD:0012782", "ICD10:E77.8", "MONDO:0018296"; "CDG with developmental anomaly", "congenital disorder of glycosylation with developmental anomaly"; "Orphanet:371235"; , ; rdfs:label "Congenital disorder of glycosylation with developmental anomaly"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly"^^xsd:anyURI . _:f3e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012782"; "MONDO:equivalentTo" . _:f3e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.8"; "ORDO:371235/attributed", "ORDO:371235/ntbt", "Orphanet:371235" . _:f3ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDG with developmental anomaly"; "Orphanet:371235" . _:f3ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital disorder of glycosylation with developmental anomaly"; rdfs:comment "preferred label from MONDO" . _:f3ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012782" . _:f3edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:371235" . _:f3eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly"^^xsd:anyURI; "GARD:0012782" . a owl:Class; rdfs:subClassOf , ; ; "Orphanet:102006"; "neurovascular malformation"; "Orphanet:371436"; ; rdfs:label "Genetic neurovascular malformation" . _:f3f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:102006"; "MONDO:equivalentTo" . _:f3f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurovascular malformation"; rdfs:comment "preferred label from MONDO" . _:f3f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:102006" . a owl:Class; rdfs:subClassOf , , ; ; "Orphanet:98549"; "cerebrovascular dementia"; "rare cerebrovascular dementia"; "Orphanet:371439"; ; rdfs:label "Genetic cerebrovascular dementia" . _:f3f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98549"; "MONDO:equivalentTo" . _:f3fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebrovascular dementia"; rdfs:comment "preferred label from MONDO" . _:f3fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare cerebrovascular dementia"; "Orphanet:98549" . _:f3ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98549" . a owl:Class; rdfs:subClassOf , ; "A esophageal malformation that is part of a larger syndrome."; , ; "Orphanet:108961", "UMLS:CN226625"; "syndrome associated with esophageal malformation", "syndromic esophageal malformation"; "syndrome associated with esophageal malformation"; "Orphanet:371445"; ; rdfs:label "Genetic syndromic esophageal malformation" . _:f40cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A esophageal malformation that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:f40ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:108961"; "MONDO:equivalentTo" . _:f411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226625"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with esophageal malformation"; "MONDO:patterns/syndromic" . _:f415d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic esophageal malformation"; "MONDO:patterns/syndromic" . _:f417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic esophageal malformation"; rdfs:comment "preferred label from MONDO" . _:f418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with esophageal malformation"; "MONDO:patterns/syndromic" . _:f419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:108961" . a owl:Class; rdfs:subClassOf , , , ; "ICD-10:E26.0", "ICD10:E26.0"; rdfs:label "Genetic hyperaldosteronism", "Genetic hyperaldosteronism"@en; "ORPHA:371861" . _:f41bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23248; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23248 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "Attributed"@en . _:f41dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk."; , ; , , , , ; "DGSX"@en, "Golabi-Rosen syndrome"@en, "SDYS"@en, "SGBS"@en, "SGBS1"@en, "Simpson dysmorphia syndrome"@en, "Simpson-Golabi-Behmel syndrome type 1"@en, "X-linked dysplasia gigantism syndrome"@en; "Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk."@en; "orphanet"@en; "GARD:0007649", "ICD-10:Q87.3", "ICD10:Q87.3", "ICD9:759.89", "MESH:C537340", "MONDO:0010731", "MSH:C537340", "MeSH:C537340", "NCIT:C131002", "OMIM:312870", "SCTID:439143004", "UMLS:C0796154"; "DGSX", "Golabi-Rosen syndrome", "SDYS", "SGB syndrome", "SGBS", "SGBS1", "Sara Angers syndrome", "Simpson dysmorphia syndrome", "Simpson-Golabi-Behmel syndrome", "Simpson-Golabi-Behmel syndrome type 1", "X-linked dysplasia gigantism syndrome"; "Sgbs", "dysplasia gigantism syndrome, X-linked"; "Orphanet:373"; , ; rdfs:label "Simpson-Golabi-Behmel syndrome", "Simpson-Golabi-Behmel syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome"^^xsd:anyURI; "ORPHA:373" . _:f429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk."; "Orphanet:373" . _:f42bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007649"; "MONDO:equivalentTo" . _:f42dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23253; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23253 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:f42fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:f430d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:373/attributed", "ORDO:373/ntbt", "Orphanet:373" . _:f432d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:f435d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537340"; "DOID:0060248", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:373/e", "Orphanet:373" . _:f436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537340"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f437d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.86/0.20" . _:f439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312870"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f43bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:439143004"; "DOID:0060248", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:f445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796154"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f447d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DGSX"; "Orphanet:373" . _:f448d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Golabi-Rosen syndrome"; "DOID:0060248", "Orphanet:373" . _:f449d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDYS"; "Orphanet:373" . _:f44cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGB syndrome"; "DOID:0060248" . _:f44dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGBS"; "Orphanet:373" . _:f44ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sara Angers syndrome"; "DOID:0060248" . _:f44fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Simpson-Golabi-Behmel syndrome"; rdfs:comment "preferred label from MONDO" . _:f451d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked dysplasia gigantism syndrome"; "DOID:0060248", "Orphanet:373" . _:f452d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sgbs"; "OMIM:312870" . _:f455d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysplasia gigantism syndrome, X-linked"; "OMIM:312870" . _:f456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007649" . _:f457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:373" . _:f458d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome"^^xsd:anyURI; "GARD:0007649" . a owl:Class; rdfs:subClassOf ; "Anti-GBM syndrome"@en, "Goodpasture syndrome"@en; "Anti-glomerular basement membrane (anti-GBM) disease is a rapidly progressive and generally fulminant rare autoimmune condition characterized by the presence of anti-GBM antibodies, affecting glomerular and/or pulmonary capillaries. It may manifest as an isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage (Goodpasture's syndrome)."@en; "orphanet"@en; "ICD-10:M31.0+", "ICD-10:N08.5*", "MedDRA:10018620", "OMIM:233450", "UMLS:C0403529"; rdfs:label "Anti-glomerular basement membrane disease"@en; "ORPHA:375" . _:f45dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.0+"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f45fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N08.5*"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f461d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018620"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233450"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f466d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0403529"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; ; "ICD10:G24.1", "MONDO:0018303"; "generalized isolated dystonia"; "Orphanet:376724"; ; rdfs:comment "Editor note: consider merging with generalized dystonia if no complex forms"; rdfs:label "Generalized isolated dystonia" . _:f467d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.1"; "ORDO:376724/attributed", "ORDO:376724/ntbt", "Orphanet:376724" . _:f468d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "generalized isolated dystonia"; rdfs:comment "preferred label from MONDO" . _:f469d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:376724" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities."; , , ; , , , , , , ; "Basal cell nevus syndrome"@en, "Gorlin-Goltz syndrome"@en, "NBCCS"@en, "Nevoid basal cell carcinoma syndrome"@en; "Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities."@en; "orphanet"@en; "DOID:2512", "GARD:0007166", "ICD-10:Q87.8", "ICD10:Q87.8", "MONDO:0007187", "MedDRA:10062804", "NCIT:C2892", "OMIM:109400", "SCTID:69408002", "UMLS:C0004779", "UMLS:C0812437"; "Basal cell nevus syndrome", "Gorlin syndrome", "Gorlin-Goltz syndrome", "NBCCS", "Nevoid basal cell carcinoma syndrome", "basal cell nevus syndrome", "multiple basal cell carcinomas", "nevoid basal cell cancer syndrome", "nevoid basal cell carcinoma syndrome"; "BCNS", "basal cell nevus syndrome", "basal cell nevus syndrome; BCNS", "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies"; "Orphanet:377"; , ; rdfs:label "Gorlin syndrome", "Gorlin syndrome"@en; "ORPHA:377" . _:f46cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities."; "Orphanet:377" . _:f46dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2512"; "MONDO:equivalentTo" . _:f46ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007166"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:f473d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23288; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23288 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:f475d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:f476d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:377/attributed", "ORDO:377/ntbt", "Orphanet:377" . _:f47ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062804"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f47dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062804"; "ORDO:377/e", "Orphanet:377" . _:f47ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2892"; "DOID:2512", "MONDO:equivalentTo" . _:f47fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:109400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f480d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:109400"; "DOID:2512", "MONDO:equivalentTo", "ORDO:377/e", "Orphanet:377" . _:f481d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:69408002"; "DOID:2512", "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.41/0.19" . _:f482d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004779"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f483d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004779"; "DOID:2512", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C2892", "OMIM:109400", "ORDO:377/e", "Orphanet:377" . _:f490d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0812437"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f492d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gorlin syndrome"; "DOID:2512", "OMIM:109400" . _:f494d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gorlin-Goltz syndrome"; "OMIM:109400", "Orphanet:377" . _:f495d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBCCS"; "Orphanet:377" . _:f497d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "basal cell nevus syndrome"; "DOID:2512", "Orphanet:377" . _:f49ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple basal cell carcinomas"; "NCIT:C2892" . _:f49cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nevoid basal cell cancer syndrome"; "NCIT:C2892" . _:f49dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nevoid basal cell carcinoma syndrome"; "OMIM:109400", "Orphanet:377" . _:f49ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nevoid basal cell carcinoma syndrome"; rdfs:comment "preferred label from MONDO" . _:f49fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCNS"; "MONDO:Lexical", "OMIM:109400" . _:f4a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "basal cell nevus syndrome"; "MONDO:Lexical", "OMIM:109400" . _:f4a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "basal cell nevus syndrome; BCNS"; "OMIM:109400" . _:f4a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies"; "OMIM:109400" . _:f4abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:377" . a owl:Class; rdfs:subClassOf ; "Clinical entity defined by a set of phenotypic abnormalities resulting from a common physiopathological mechanism with a homogeneous evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies."@en; rdfs:label "disease"@en . a owl:Class; rdfs:subClassOf ; "Clinical entity defined by a set of morphological abnormalities resulting from a developmental anomaly involving more than one morphogenetic field. Includes sequences and associations."@en; rdfs:label "malformation syndrome"@en . a owl:Class; rdfs:subClassOf ; "Clinical entity defined by a set of physiological abnormalities without clear associated clinical manifestations."@en; rdfs:label "biological anomaly"@en . a owl:Class; rdfs:subClassOf ; "Clinical entity defined by an alteration of the normal morphology resulting from a development anomaly involving a single morphogenetic field."@en; rdfs:label "morphological anomaly"@en . a owl:Class; rdfs:subClassOf ; "Clinical entity defined by a set of phenotypic abnormalities with a homogeneous evolution and homogeneous therapeutic possibilities, regardless of the physiopathological mechanism."@en; rdfs:label "clinical syndrome"@en . a owl:Class; rdfs:subClassOf ; "Clinical entity defined by a set of phenotypic abnormalities occurring in particular circumstances."@en; rdfs:label "particular clinical situation in a disease or syndrome"@en . a owl:Class; rdfs:subClassOf ; "Clinical entity defined by a set of phenotypic abnormalities shared by several diseases, malformation or clinical syndromes, morphological or biological anomalies, and particular clinical situations in a disease or a syndrome and used to group them together."@en; rdfs:label "group of disorders"@en . a owl:Class; rdfs:subClassOf ; "Subdivision of a disease, malformation syndrome, morphological anomaly, biological anomaly or particular clinical situation in a disease or a syndrome further defined by its aetiology."@en; rdfs:label "etiological subtype"@en . a owl:Class; rdfs:subClassOf ; "Subdivision of a disease, malformation syndrome, morphological anomaly, biological anomaly, clinical syndrome or particular clinical situation in a disease or a syndrome further defined by its particular clinical presentation."@en; rdfs:label "clinical subtype"@en . a owl:Class; rdfs:subClassOf ; "Subdivision of a disease, malformation syndrome, morphological anomaly, biological anomaly, clinical syndrome or particular clinical situation in a disease defined by the histological abnormalities in affected tissues."@en; rdfs:label "histopathological subtype"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , ; "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas."; , , ; , , , , , , ; "CGD"@en, "Chronic septic granulomatosis"@en; "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas."@en; "orphanet", "orphanet"@en; "DOID:3265", "GARD:0006100", "ICD-10:D71", "ICD10:D71", "MESH:D006105", "MONDO:0018305", "MSH:D006105", "MeSH:D006105", "MedDRA:10008906", "NCIT:C26788", "OMIM:233670", "OMIM:233690", "OMIM:233700", "OMIM:233710", "OMIM:306400", "OMIM:613960", "OMIMPS:306400", "SCTID:387759001", "UMLS:C0018203"; "Bridges-Good syndrome", "CGD", "Chronic septic granulomatosis", "Quie syndrome", "chronic granulomatous disease", "chronic septic granulomatosis", "congenital dysphagocytosis"; "granulomatous disease, chronic"; "Orphanet:379"; , ; rdfs:label "Chronic granulomatous disease", "Chronic granulomatous disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease"^^xsd:anyURI; "ORPHA:379" . _:f4c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas."; "Orphanet:379" . _:f4c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3265"; "MONDO:equivalentTo" . _:f4c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006100"; "MONDO:equivalentTo" . _:f4c7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23317; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23317 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D71"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f4c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D71"; "NTBT (narrower term maps to a broader term)"@en . _:f4c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D71"; "DOID:3265", "ORDO:379/inclusion", "ORDO:379/ntbt", "Orphanet:379" . _:f4cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006105"; "DOID:3265", "MONDO:equivalentTo", "ORDO:379/e", "Orphanet:379" . _:f4cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006105"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f4ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008906"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f4cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008906"; "ORDO:379/e", "Orphanet:379" . _:f4ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26788"; "DOID:3265", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.78/1.05" . _:f4cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233670"; "BTNT (broader term maps to a narrower term)"@en . _:f4d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233690"; "BTNT (broader term maps to a narrower term)"@en . _:f4d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233700"; "BTNT (broader term maps to a narrower term)"@en . _:f4d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233710"; "BTNT (broader term maps to a narrower term)"@en . _:f4d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:306400"; "BTNT (broader term maps to a narrower term)"@en . _:f4d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613960"; "BTNT (broader term maps to a narrower term)"@en . _:f4dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:306400"; "MONDO:cjm", "MONDO:equivalentTo" . _:f4ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:387759001"; "DOID:3265", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/27.05" . _:f4ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018203"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f4e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018203"; "DOID:3265", "MONDO:equivalentTo", "NCIT:C26788", "ORDO:379/e", "Orphanet:379" . _:f4e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bridges-Good syndrome"; "DOID:3265" . _:f4e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGD"; "DOID:3265", "NCIT:C26788", "Orphanet:379" . _:f4e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Quie syndrome"; "DOID:3265" . _:f4e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic granulomatous disease"; rdfs:comment "preferred label from MONDO" . _:f4ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic septic granulomatosis"; "Orphanet:379" . _:f4ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital dysphagocytosis"; "DOID:3265", "MTHICD9_2006:288.1" . _:f4edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "granulomatous disease, chronic"; "GARD:0006100" . _:f4efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006100" . _:f4f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:379" . _:f4f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease"^^xsd:anyURI; "GARD:0006100" . a owl:Class; rdfs:subClassOf ; "Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)."; , , , ; "DC:0000356", "DOID:0060831", "GARD:0010913", "ICD10:E70.3", "ICD9:270.2", "MONDO:0018306", "OMIM:214450", "OMIM:607624", "OMIM:609227", "OMIMPS:214450", "SCTID:37548006", "UMLS:CN204933"; "ChC)diak-Higashi-like syndrome", "Chédiak-Higashi-like syndrome", "Ch��diak-Higashi-like syndrome", "Griscelli syndrome", "Griscelli-PruniC)ras syndrome", "Griscelli-Pruniéras syndrome", "Griscelli-Pruni��ras syndrome", "Partial albinism - immunodeficiency", "partial albinism-immunodeficiency syndrome"; "Griscelli disease"; "Orphanet:381"; , ; rdfs:label "Griscelli disease"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome"^^xsd:anyURI . _:f4f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)."; "Orphanet:381" . _:f4f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000356"; "MONDO:equivalentTo" . _:f4f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060831"; "MONDO:equivalentTo" . _:f4fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010913"; "MONDO:equivalentTo" . _:f4fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.3"; "DOID:0060831", "MONDO:relatedTo", "ORDO:381/attributed", "ORDO:381/ntbt", "Orphanet:381" . _:f500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.2"; "MONDO:relatedTo", "i2s" . _:f503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:214450"; "DOID:0060831", "MONDO:equivalentTo" . _:f505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:37548006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.47" . _:f506d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN204933"; "MONDO:equivalentTo" . _:f507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ChC)diak-Higashi-like syndrome"; "Orphanet:381" . _:f509d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chédiak-Higashi-like syndrome"; "DOID:0060831" . _:f50ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ch��diak-Higashi-like syndrome"; "DOID:0060831" . _:f50bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli syndrome"; rdfs:comment "preferred label from MONDO" . _:f50cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli-PruniC)ras syndrome"; "Orphanet:381" . _:f50dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli-Pruniéras syndrome"; "DOID:0060831" . _:f50ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli-Pruni��ras syndrome"; "DOID:0060831" . _:f50fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial albinism-immunodeficiency syndrome"; "DOID:0060831", "Orphanet:381" . _:f510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli disease"; "GARD:0010913" . _:f511d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010913" . _:f512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:381" . _:f513d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome"^^xsd:anyURI; "GARD:0010913" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."; , , , ; "NBIA"@en; "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."@en; "orphanet", "orphanet"@en; "DC:0000320", "DOID:0110734", "GARD:0011899", "ICD-10:G23.0", "ICD10:G23.0", "MESH:C538421", "MONDO:0018307", "MSH:C538421", "MeSH:C538421", "OMIMPS:234200", "UMLS:C2931845"; "NBIA", "neurodegeneration with brain iron accumulation"; "Orphanet:385"; ; rdfs:comment "Editor note: check relationship to PKAN"; rdfs:label "Neurodegeneration with brain iron accumulation", "Neurodegeneration with brain iron accumulation"@en; "ORPHA:385" . _:f51ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."; "Orphanet:385" . _:f51bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000320"; "MONDO:equivalentTo" . _:f51ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110734"; "MONDO:equivalentTo" . _:f51fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011899"; "MONDO:equivalentTo", "Orphanet-shared" . _:f525d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23371; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23371 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G23.0"; "Attributed"@en . _:f528d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G23.0"; "NTBT (narrower term maps to a broader term)"@en . _:f52ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G23.0"; "DOID:0110734", "ORDO:385/attributed", "ORDO:385/ntbt", "Orphanet:385" . _:f52cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538421"; "DOID:0110734", "MONDO:equivalentTo", "ORDO:385/e", "Orphanet:385" . _:f52fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538421"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f530d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:234200"; "DC:0000320", "DOID:0110734", "MONDO:equivalentTo" . _:f532d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931845"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f534d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBIA"; "DOID:0110734", "Orphanet:385" . _:f536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurodegeneration with brain iron accumulation"; rdfs:comment "preferred label from MONDO" . _:f538d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:385" . a owl:Class; rdfs:subClassOf , ; "Histiocytosis X"@en, "Langerhans cell granulomatosis"@en; "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues."@en; "orphanet"@en; "ICD-10:C96.0", "ICD-10:C96.5", "ICD-10:C96.6", "MeSH:D006646", "MedDRA:10069698", "OMIM:604856", "UMLS:C0019621"; rdfs:label "Langerhans cell histiocytosis"@en; "ORPHA:389" . _:f539d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.0"; "BTNT (broader term maps to a narrower term)"@en . _:f53ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.5"; "BTNT (broader term maps to a narrower term)"@en . _:f53bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.6"; "BTNT (broader term maps to a narrower term)"@en . _:f53cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006646"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f53dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069698"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f53ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604856"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f53fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019621"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)."; , ; , , , , , , ; ; "Combined immunodeficiency with hypereosinophilia"@en; "Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)."@en; "orphanet", "orphanet"@en; "DOID:0060010", "GARD:0008198", "ICD-10:D81.8", "ICD10:D81.8", "MONDO:0011338", "MedDRA:10069097", "NCIT:C61240", "OMIM:603554", "SCTID:722067005", "UMLS:C1801959", "UMLS:C2700553"; "Combined immunodeficiency with hypereosinophilia", "Omenn syndrome", "combined immunodeficiency with hypereosinophilia"; "reticuloendotheliosis familial with eosinophilia", "reticuloendotheliosis, familial, with eosinophilia", "severe combined immunodeficiency with hypereosinophilia"; "Orphanet:39041"; , ; rdfs:label "Omenn syndrome", "Omenn syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome"^^xsd:anyURI; "ORPHA:39041" . _:f552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)."; "Orphanet:39041" . _:f553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:39041", "https://github.com/monarch-initiative/mondo-build/issues/108" . _:f554d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060010"; "MONDO:equivalentTo" . _:f557d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008198"; "MONDO:equivalentTo" . _:f558d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23393; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23393 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:f55ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:f55bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "DOID:0060010", "ORDO:39041/attributed", "ORDO:39041/ntbt", "Orphanet:39041" . _:f55dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069097"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f560d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10069097"; "ORDO:39041/e", "Orphanet:39041" . _:f564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61240"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:f565d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603554"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603554"; "DOID:0060010", "MONDO:equivalentTo", "ORDO:39041/e", "Orphanet:39041" . _:f568d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722067005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/11.37" . _:f56bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1801959"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C61240", "OMIM:603554" . _:f56fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2700553"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f570d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Omenn syndrome"; "OMIM:603554" . _:f573d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Omenn syndrome"; rdfs:comment "preferred label from MONDO" . _:f574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency with hypereosinophilia"; "DOID:0060010", "Orphanet:39041" . _:f576d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reticuloendotheliosis familial with eosinophilia"; "GARD:0008198" . _:f577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reticuloendotheliosis, familial, with eosinophilia"; "OMIM:603554" . _:f578d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency with hypereosinophilia"; "OMIM:603554" . _:f579d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0008198" . _:f57bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:39041" . _:f57cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome"^^xsd:anyURI; "GARD:0008198" . a owl:Class; rdfs:subClassOf ; "Choroidal melanoma"@en, "Iris melanoma"@en; "Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis."@en; "orphanet"@en; "ICD-10:C69.3", "MeSH:C536494", "MedDRA:10061252", "OMIM:155720", "OMIM:606660", "OMIM:606661", "UMLS:C0220633", "UMLS:C0346373", "UMLS:C0346388"; rdfs:label "Uveal melanoma"@en; "ORPHA:39044" . _:f57dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C69.3"; "NTBT (narrower term maps to a broader term)"@en . _:f57ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536494"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f57fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061252"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155720"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606660"; "BTNT (broader term maps to a narrower term)"@en . _:f585d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606661"; "BTNT (broader term maps to a narrower term)"@en . _:f586d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0220633"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f587d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0346373"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f588d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0346388"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Classic Hodgkin disease"@en; "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells."@en; "orphanet"@en; "ICD-10:C81.0", "ICD-10:C81.1", "ICD-10:C81.2", "ICD-10:C81.3", "ICD-10:C81.4", "ICD-10:C81.7", "ICD-10:C81.9", "OMIM:236000", "OMIM:300221", "OMIM:400021"; rdfs:label "Classic Hodgkin lymphoma"@en; "ORPHA:391" . _:f589d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C81.0"; "BTNT (broader term maps to a narrower term)"@en . _:f58bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C81.1"; "BTNT (broader term maps to a narrower term)"@en . _:f58dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C81.2"; "BTNT (broader term maps to a narrower term)"@en . _:f58ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C81.3"; "BTNT (broader term maps to a narrower term)"@en . _:f58fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C81.4"; "BTNT (broader term maps to a narrower term)"@en . _:f590d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C81.7"; "BTNT (broader term maps to a narrower term)"@en . _:f591d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C81.9"; "BTNT (broader term maps to a narrower term)"@en . _:f593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f594d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300221"; "BTNT (broader term maps to a narrower term)"@en . _:f595d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:400021"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf ; , , ; "true"; "susceptibility to viral and mycobacterial infections"; "ICD10:D84.8", "MONDO:0013427", "OMIM:613796", "UMLS:C3151088"; "STAT1 deficiency", "immunodeficiency 31B", "immunodeficiency type 31B"; "IMD31B", "Stat1 deficiency, autosomal recessive", "immunodeficiency 31B", "immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive", "immunodeficiency 31B; IMD31B"; "Orphanet:391311"; ; rdfs:label "Susceptibility to viral and mycobacterial infections" . _:f597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "susceptibility to viral and mycobacterial infections"; "Orphanet:391311" . _:f599d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:391311/attributed", "ORDO:391311/ntbt", "Orphanet:391311" . _:f59ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613796"; "MONDO:equivalentTo", "ORDO:391311/e", "Orphanet:391311" . _:f59cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151088"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613796" . _:f59fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STAT1 deficiency"; "Orphanet:391311" . _:f5a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31B"; rdfs:comment "preferred label from MONDO" . _:f5a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 31B"; "MONDORULE:4", "OMIM:613796" . _:f5a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD31B"; "MONDO:Lexical", "OMIM:613796" . _:f5a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stat1 deficiency, autosomal recessive"; "OMIM:613796" . _:f5a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31B"; "MONDO:Lexical", "OMIM:613796" . _:f5a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive"; "OMIM:613796" . _:f5aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31B; IMD31B"; "OMIM:613796" . _:f5abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:391311" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."; , , ; "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."@en; "orphanet"@en; "GARD:0012314", "ICD-10:K63.9", "ICD10:K63.9", "MONDO:0013599", "OMIM:614162", "UMLS:C3279990"; "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome", "immunodeficiency type 31C"; "CANDF7", "IMD31C", "candidiasis familial chronic mucocutaneous, autosomal dominant", "candidiasis familial, 7", "candidiasis, familial chronic mucocutaneous, autosomal dominant", "candidiasis, familial, 7", "familial chronic mucocutaneous, autosomal dominant", "immunodeficiency 31C", "immunodeficiency 31C; IMD31C"; "Orphanet:391487"; , ; rdfs:label "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome", "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"@en; "ORPHA:391487" . _:f5b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."; "Orphanet:391487" . _:f5b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012314"; "MONDO:equivalentTo", "OMIM-shared" . _:f5bbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23448; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23448 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K63.9"; "Attributed"@en . _:f5bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K63.9"; "NTBT (narrower term maps to a broader term)"@en . _:f5bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K63.9"; "ORDO:391487/attributed", "ORDO:391487/ntbt", "Orphanet:391487" . _:f5c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614162"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f5c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614162"; "MONDO:equivalentTo", "ORDO:391487/e", "Orphanet:391487" . _:f5c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3279990"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614162" . _:f5c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"; rdfs:comment "preferred label from MONDO" . _:f5cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 31C"; "MONDORULE:4", "OMIM:614162" . _:f5cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CANDF7"; "GARD:0012314" . _:f5ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD31C"; "MONDO:Lexical", "OMIM:614162" . _:f5cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "candidiasis familial chronic mucocutaneous, autosomal dominant"; "GARD:0012314" . _:f5d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "candidiasis familial, 7"; "GARD:0012314" . _:f5d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "candidiasis, familial chronic mucocutaneous, autosomal dominant"; "OMIM:614162" . _:f5d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "candidiasis, familial, 7"; "OMIM:614162" . _:f5d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial chronic mucocutaneous, autosomal dominant"; "GARD:0012314" . _:f5d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31C"; "MONDO:Lexical", "OMIM:614162" . _:f5d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 31C; IMD31C"; "OMIM:614162" . _:f5d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:391487" . a owl:Class; rdfs:subClassOf ; ; "ICD-10:G24.1", "ICD10:G24.1", "MONDO:0018329"; "persistent combined dystonia"; "Orphanet:391711"; ; rdfs:label "Persistent combined dystonia", "Persistent combined dystonia"@en; "ORPHA:391711" . _:f5dcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23467; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23467 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "Attributed"@en . _:f5dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "NTBT (narrower term maps to a broader term)"@en . _:f5e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.1"; "ORDO:391711/attributed", "ORDO:391711/ntbt", "Orphanet:391711" . _:f5e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent combined dystonia"; rdfs:comment "preferred label from MONDO" . _:f5e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:391711" . a owl:Class; rdfs:subClassOf , ; "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome."; , , ; "Rare genetic dystonic disorder"@en; "MONDO:0044807", "NCIT:C35527", "UMLS:CN227322"; "Rare genetic dystonic disorder", "familial dystonia", "hereditary dystonic disorder", "inherited dystonia", "rare genetic dystonia", "rare genetic dystonic disorder"; "Orphanet:391799"; ; rdfs:label "Rare genetic dystonia", "Rare genetic dystonia"@en; "ORPHA:391799" . _:f5fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:f5fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35527"; "MONDO:equivalentTo" . _:f5fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227322"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:f602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial dystonia"; "NCIT:C35527" . _:f605d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary dystonic disorder"; "MONDO:patterns/hereditary" . _:f607d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited dystonia"; rdfs:comment "preferred label from MONDO" . _:f609d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic dystonia"; "MONDO:0018331" . _:f60ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic dystonic disorder"; "Orphanet:391799" . _:f611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:391799" . a owl:Class; rdfs:subClassOf , ; "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency."; , , , , , , ; "46,XX testicular DSD"@en, "De la Chapelle syndrome"@en, "XX, male syndrome"@en; "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency."@en; "orphanet", "orphanet"@en; "GARD:0000399", "ICD-10:Q99.1", "ICD10:Q99.1", "MESH:D058531", "MONDO:0010766", "MSH:D058531", "MeSH:D058531", "NCIT:C127170", "OMIM:154230", "OMIM:278850", "OMIM:300018", "OMIM:300833", "OMIM:400045", "OMIM:612965", "OMIM:613080", "OMIM:613762", "UMLS:C0432475", "UMLS:C2936419", "UMLS:CN205000"; "46,XX Sex reversal type 1", "46,XX testicular DSD", "46,XX testicular differences of Sex development", "46,XX testicular disorder of sex development", "46,XX testicular disorders of Sex development", "De la Chapelle syndrome", "XX, male syndrome"; "46, XX gonadal sex reversal", "46,XX SEX reversal 1", "46,XX SEX reversal 1; SRXX1", "46,XX Sex reversal, Sry-positive", "46,XX gonadal dysgenesis, complete, Sry-positive", "46,XX true hermaphroditism, Sry-positive", "SRXX1", "XX Male, Sry-positive", "XX male syndrome", "XX sex reversal", "ovotesticular DSD", "ovotesticular disorder of Sex development"; "Orphanet:393"; ; rdfs:label "46,XX testicular disorder of sex development", "46,XX testicular disorder of sex development"@en; "ORPHA:393" . _:f61bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency."; "Orphanet:393" . _:f61cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000399"; "MONDO:equivalentTo", "Orphanet-shared" . _:f61dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23484; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23484 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q99.1"; "Attributed"@en . _:f624d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q99.1"; "NTBT (narrower term maps to a broader term)"@en . _:f625d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.1"; "ORDO:393/attributed", "ORDO:393/ntbt", "Orphanet:393" . _:f627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058531"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:393/e", "Orphanet:393" . _:f62ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058531"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f62cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C127170"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.33" . _:f62ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278850"; "BTNT (broader term maps to a narrower term)"@en . _:f62fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300833"; "BTNT (broader term maps to a narrower term)"@en . _:f630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:400045"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:400045"; "MONDO:equivalentTo", "ORDO:393/e", "Orphanet:393" . _:f632d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0432475"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936419"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936419"; "MONDO:equivalentTo", "NCIT:C127170", "ORDO:393/e", "Orphanet:393" . _:f63bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205000"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:f63dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX Sex reversal type 1"; "MONDORULE:1", "OMIM:400045" . _:f63fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX testicular DSD"; "Orphanet:393" . _:f641d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX testicular differences of Sex development"; "NCIT:C127170" . _:f643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX testicular disorder of sex development"; "OMIM:400045" . _:f646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX testicular disorder of sex development"; rdfs:comment "preferred label from MONDO" . _:f648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX testicular disorders of Sex development"; "NCIT:C127170" . _:f649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "De la Chapelle syndrome"; "Orphanet:393" . _:f64bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XX, male syndrome"; "Orphanet:393" . _:f64cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46, XX gonadal sex reversal"; "GARD:0000399" . _:f651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX SEX reversal 1"; "MONDO:Lexical", "OMIM:400045" . _:f653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX SEX reversal 1; SRXX1"; "OMIM:400045" . _:f655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX Sex reversal, Sry-positive"; "OMIM:400045" . _:f656d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX gonadal dysgenesis, complete, Sry-positive"; "OMIM:400045" . _:f659d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX true hermaphroditism, Sry-positive"; "OMIM:400045" . _:f65ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRXX1"; "MONDO:Lexical", "OMIM:400045" . _:f65ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XX Male, Sry-positive"; "OMIM:400045" . _:f661d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XX male syndrome"; "GARD:0000399" . _:f663d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XX sex reversal"; "GARD:0000399" . _:f664d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovotesticular DSD"; "OMIM:400045" . _:f668d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovotesticular disorder of Sex development"; "OMIM:400045" . _:f66cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:393" . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system."; , ; , , , , ; "Cystathionine beta-synthase deficiency"@en, "Homocystinuria due to cystathionine beta-synthase deficiency"@en; "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system."@en; "orphanet"@en; "GARD:0006667", "ICD-10:E72.1", "ICD10:E72.1", "MONDO:0009352", "MedDRA:10071093", "OMIM:236200", "SCTID:24308003", "UMLS:C0751202"; "Cystathionine beta-synthase deficiency", "Homocystinuria due to cystathionine beta-synthase deficiency", "classic homocystinuria", "cystathionine beta-synthase deficiency", "homocystinuria due to cystathionine beta-synthase deficiency"; "CBS deficiency", "homocystinuria due to CBS deficiency", "homocystinuria with or without response to pyridoxine", "hyperhomocysteinemia, thrombotic, CBS-related"; "Orphanet:394"; , ; rdfs:label "Classic homocystinuria"@en, "Classical homocystinuria"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency"^^xsd:anyURI; "ORPHA:394" . _:f673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system."; "Orphanet:394" . _:f676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006667"; "MONDO:equivalentTo" . _:f678d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23522; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f67bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:f67cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:394/inclusion", "ORDO:394/ntbt", "Orphanet:394" . _:f67dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071093"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f67ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071093"; "ORDO:394/e", "Orphanet:394" . _:f67fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236200"; "GARD:0006667", "MONDO:equivalentTo", "ORDO:394/e", "Orphanet:394" . _:f681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:24308003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.76/1.18" . _:f683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751202"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751202"; "GARD:0006667", "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "ORDO:394/e", "Orphanet:394" . _:f687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic homocystinuria"; rdfs:comment "preferred label from MONDO" . _:f688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cystathionine beta-synthase deficiency"; "GARD:0006667", "OMIM:236200", "Orphanet:394" . _:f68ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria due to cystathionine beta-synthase deficiency"; "GARD:0006667", "OMIM:236200", "Orphanet:394" . _:f68dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBS deficiency"; "GARD:0006667", "OMIM:236200" . _:f68fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria due to CBS deficiency"; "GARD:0006667" . _:f692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria with or without response to pyridoxine"; "OMIM:236200" . _:f694d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperhomocysteinemia, thrombotic, CBS-related"; "OMIM:236200" . _:f696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:394" . _:f697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency"^^xsd:anyURI; "GARD:0006667" . a owl:Class; rdfs:subClassOf , , , ; "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations."; , , ; , , ; "MTHFR deficiency"@en, "Methylene tetrahydrofolate reductase deficiency"@en; "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations."@en; "orphanet"@en; "GARD:0002734", "ICD-10:E72.1", "ICD10:E72.1", "MONDO:0009353", "OMIM:236250", "SCTID:41797007", "UMLS:C1856061"; "MTHFR deficiency", "Methylene tetrahydrofolate reductase deficiency", "homocystinuria due to methylene tetrahydrofolate reductase deficiency", "methylene tetrahydrofolate reductase deficiency"; "5,10 alpha methylenetetrahydro-folate reductase deficiency", "5,10-alpha-methylenetetrahydro-folate reductase deficiency", "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency", "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency", "MTHFR deficiency, thermolabile type", "Methylenetetrahydro-folate reductase deficiency", "homocystinuria due to MTHFR deficiency", "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity", "methylenetetrahydrofolate reductase deficiency"; "Orphanet:395"; ; rdfs:label "Homocystinuria due to methylene tetrahydrofolate reductase deficiency", "Homocystinuria due to methylene tetrahydrofolate reductase deficiency"@en; "ORPHA:395" . _:f69dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations."; "Orphanet:395" . _:f69ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002734"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:f69fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23544; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23544 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f6a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:f6a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:395/inclusion", "ORDO:395/ntbt", "Orphanet:395" . _:f6a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f6a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236250"; "MONDO:equivalentTo", "ORDO:395/e", "Orphanet:395" . _:f6a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:41797007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.20" . _:f6a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1856061"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f6a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTHFR deficiency"; "OMIM:236250", "Orphanet:395" . _:f6a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria due to methylene tetrahydrofolate reductase deficiency"; rdfs:comment "preferred label from MONDO" . _:f6a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylene tetrahydrofolate reductase deficiency"; "Orphanet:395" . _:f6a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "5,10 alpha methylenetetrahydro-folate reductase deficiency"; "GARD:0002734" . _:f6aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "5,10-alpha-methylenetetrahydro-folate reductase deficiency"; "GARD:0002734" . _:f6abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency"; "GARD:0002734" . _:f6acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency"; "GARD:0002734" . _:f6aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTHFR deficiency, thermolabile type"; "OMIM:236250" . _:f6b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Methylenetetrahydro-folate reductase deficiency"; "GARD:0002734" . _:f6b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria due to MTHFR deficiency"; "GARD:0002734" . _:f6b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity"; "OMIM:236250" . _:f6b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylenetetrahydrofolate reductase deficiency"; "OMIM:236250" . _:f6b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:395" . a owl:Class; rdfs:subClassOf ; "Horton disease"@en, "Temporal arteritis"@en; "Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries."@en; "orphanet"@en; "ICD-10:M31.6", "MeSH:D013700", "MedDRA:10018250", "MedDRA:10043207", "OMIM:187360", "UMLS:C0039483", "UMLS:C1956391"; rdfs:label "Giant cell arteritis"@en; "ORPHA:397" . _:f6bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.6"; "NTBT (narrower term maps to a broader term)"@en . _:f6bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f6bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f6bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043207"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f6c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:187360"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f6c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039483"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f6c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1956391"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Disseminated granulomatous dermatophytosis"@en; "ICD-10:B35.8", "UMLS:C1395264"; rdfs:label "Deep dermatophytosis"@en; "ORPHA:397587" . _:f6c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B35.8"; "NTBT (narrower term maps to a broader term)"@en . _:f6cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1395264"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0018336", "UMLS:CN225933"; "Silver-Russell syndrome due to a point mutation"; "Orphanet:397590"; ; rdfs:label "Silver-Russell syndrome due to a point mutation", "Silver-Russell syndrome due to a point mutation"@en; "ORPHA:397590" . _:f6ced a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23574; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23574 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:f6d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:f6d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:397590/attributed", "ORDO:397590/ntbt", "Orphanet:397590" . _:f6d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN225933"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:f6dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to a point mutation"; rdfs:comment "preferred label from MONDO" . _:f6ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:397590" . a owl:Class; rdfs:subClassOf , ; "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present."; , , ; "SCID due to IKK2 deficiency"@en; "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present."@en; "orphanet"@en; "ICD-10:D81.2", "ICD10:D81.2", "MONDO:0014267", "OMIM:615592", "OMIM:618204", "UMLS:C3810043"; "SCID due to IKK2 deficiency", "immunodeficiency type 15", "severe combined immunodeficiency due to IKK2 deficiency"; "IMD15", "immunodeficiency 15", "immunodeficiency 15; IMD15"; "Orphanet:397787"; ; rdfs:label "Severe combined immunodeficiency due to IKK2 deficiency", "Severe combined immunodeficiency due to IKK2 deficiency"@en; "ORPHA:397787" . _:f6e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present."; "Orphanet:397787" . _:f6e1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23582; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:f6e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:f6e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "ORDO:397787/attributed", "ORDO:397787/ntbt", "Orphanet:397787" . _:f6e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615592"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f6e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615592"; "MONDO:equivalentTo", "ORDO:397787/e", "Orphanet:397787" . _:f6e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618204"; "BTNT (broader term maps to a narrower term)"@en . _:f6ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3810043"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:615592" . _:f6ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to IKK2 deficiency"; "Orphanet:397787" . _:f6edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 15"; "MONDORULE:2", "OMIM:615592" . _:f6eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to IKK2 deficiency"; rdfs:comment "preferred label from MONDO" . _:f6efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD15"; "MONDO:Lexical", "OMIM:615592" . _:f6f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 15"; "MONDO:Lexical", "OMIM:615592" . _:f6f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 15; IMD15"; "OMIM:615592" . _:f6f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:397787" . a owl:Class; rdfs:subClassOf ; ; "ICD10:D81.2", "MONDO:0044201"; "T+ B+ severe combined immunodeficiency", "T+B+ SCID", "T-cell positive B-cell positive SCID"; "Orphanet:397802"; ; rdfs:label "T+ B+ severe combined immunodeficiency" . _:f6f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.2"; "Orphanet:397802" . _:f6fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T+ B+ severe combined immunodeficiency"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections."; , , ; "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections."@en; "orphanet"@en; "ICD-10:D81.8", "ICD10:D81.8", "MONDO:0014197", "OMIM:615468", "UMLS:C3809583"; "combined immunodeficiency due to MALT1 deficiency", "immunodeficiency type 12"; "IMD12", "immunodeficiency 12", "immunodeficiency 12; IMD12"; "Orphanet:397964"; ; rdfs:label "Combined immunodeficiency due to MALT1 deficiency", "Combined immunodeficiency due to MALT1 deficiency"@en; "ORPHA:397964" . _:f701d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections."; "Orphanet:397964" . _:f70ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23600; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23600 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:f70ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:f70fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:397964/attributed", "ORDO:397964/ntbt", "Orphanet:397964" . _:f711d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615468"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615468"; "MONDO:equivalentTo", "ORDO:397964/e", "Orphanet:397964" . _:f714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3809583"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:615468" . _:f715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to MALT1 deficiency"; rdfs:comment "preferred label from MONDO" . _:f716d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency type 12"; "MONDORULE:2", "OMIM:615468" . _:f718d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD12"; "MONDO:Lexical", "OMIM:615468" . _:f724d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 12"; "MONDO:Lexical", "OMIM:615468" . _:f725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 12; IMD12"; "OMIM:615468" . _:f728d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:397964" . a owl:Class; rdfs:subClassOf , ; , , ; "PWS due to a point mutation"@en, "Schaaf-Yang syndrome"@en; "GARD:0013316", "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0014243", "OMIM:615547", "UMLS:C3809877"; "PWS due to a point mutation", "PWS due to point mutation", "Prader-Willi syndrome due to point mutation", "Schaaf-Yang syndrome"; "Prader-Willi syndrome due to a point mutation", "Prader-Willi-like syndrome", "SHFYNG", "Schaaf-YANG syndrome", "Schaaf-YANG syndrome; SHFYNG"; "Orphanet:398069"; ; rdfs:label "Prader-Willi syndrome due to a point mutation"@en, "Prader-Willi syndrome due to point mutation"; "ORPHA:398069" . _:f72fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013316"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:f732d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23614; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23614 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:f734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:f735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:398069/attributed", "ORDO:398069/ntbt", "Orphanet:398069" . _:f737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615547"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f73bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615547"; "MONDO:equivalentTo", "ORDO:398069/e", "Orphanet:398069" . _:f73cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3809877"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:615547" . _:f73dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PWS due to a point mutation"; "Orphanet:398069" . _:f73ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PWS due to point mutation"; "Orphanet:398069" . _:f73fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to point mutation"; rdfs:comment "preferred label from MONDO" . _:f740d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schaaf-Yang syndrome"; "Orphanet:398069" . _:f741d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to a point mutation"; "Orphanet:398069" . _:f743d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi-like syndrome"; "OMIM:615547" . _:f746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHFYNG"; "MONDO:Lexical", "OMIM:615547" . _:f747d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schaaf-YANG syndrome"; "MONDO:Lexical", "OMIM:615547" . _:f749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schaaf-YANG syndrome; SHFYNG"; "OMIM:615547" . _:f74fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:398069" . a owl:Class; rdfs:subClassOf , , , , , , ; "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities."; , ; "PWS-like"@en; "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities."@en; "orphanet"@en; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0018354", "UMLS:CN226094"; "PWS-like", "Prader-Willi-like syndrome"; "Orphanet:398073"; ; rdfs:label "Prader-Willi-like syndrome", "Prader-Willi-like syndrome"@en; "ORPHA:398073" . _:f75dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities."; "Orphanet:398073" . _:f75ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23632; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:f760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:f761d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:398073/attributed", "ORDO:398073/ntbt", "Orphanet:398073" . _:f762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226094"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f763d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PWS-like"; "Orphanet:398073" . _:f764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi-like syndrome"; rdfs:comment "preferred label from MONDO" . _:f765d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:398073" . a owl:Class; rdfs:subClassOf , ; , ; "PWS-like due to a point mutation"@en; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0018355", "UMLS:CN226095"; "PWS-like due to a point mutation", "PWS-like due to point mutation", "Prader-Willi-like syndrome due to point mutation"; "Prader-Willi-like syndrome due to a point mutation"; "Orphanet:398079"; ; rdfs:label "Prader-Willi-like syndrome due to a point mutation"@en, "Prader-Willi-like syndrome due to point mutation"; "ORPHA:398079" . _:f768d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23640; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23640 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:f76ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:f76bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:398079/attributed", "ORDO:398079/ntbt", "Orphanet:398079" . _:f76ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226095"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:f76fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PWS-like due to a point mutation"; "Orphanet:398079" . _:f771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PWS-like due to point mutation"; "Orphanet:398079" . _:f774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi-like syndrome due to point mutation"; rdfs:comment "preferred label from MONDO" . _:f775d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi-like syndrome due to a point mutation"; "Orphanet:398079" . _:f77ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:398079" . a owl:Class; rdfs:subClassOf , , ; "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor."; , ; , , , , ; "true"; "DOID:2151", "GARD:0009362", "ICD10:C56", "MESH:C538090", "MONDO:0018364", "NCIT:C40026", "SCTID:254849005"; "Epithelial cancer of ovary", "Ovarian epithelial cancer", "Ovarian malignant epithelial tumor", "epithelial cancer of ovary", "malignant epithelial tumor of ovary", "malignant ovarian epithelial tumor", "malignant ovarian surface epithelial-stromal neoplasm", "malignant ovarian surface epithelial-stromal tumor", "ovarian epithelial cancer", "ovarian epithelial tumor, malignant", "ovarian malignant epithelial tumor", "ovarian stromal cancer"; "Orphanet:398934"; ; rdfs:comment "Editor note: check inference with carcinoma"; rdfs:label "Malignant epithelial tumor of ovary" . _:f780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor."; "NCIT:C40026" . _:f781d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2151"; "MONDO:equivalentTo" . _:f782d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009362"; "MONDO:equivalentTo" . _:f786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538090"; "MONDO:equivalentTo", "MONDO:ontobio" . _:f787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C40026"; "DOID:2151", "MONDO:equivalentTo", "MONDO:kboom-pr-0.65/0.29/0.05" . _:f788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254849005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.92/0.39" . _:f789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epithelial cancer of ovary"; "Orphanet:398934" . _:f78ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant epithelial tumor of ovary"; rdfs:comment "preferred label from MONDO" . _:f78cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ovarian epithelial tumor"; "NCIT:C40026" . _:f78dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ovarian surface epithelial-stromal neoplasm"; "DOID:2151", "NCIT:C40026", "https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/167" . _:f78fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ovarian surface epithelial-stromal tumor"; "NCIT:C40026" . _:f790d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian epithelial cancer"; "Orphanet:398934" . _:f791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian epithelial tumor, malignant"; "MONDO:patterns/malignant" . _:f792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian malignant epithelial tumor"; "Orphanet:398934" . _:f795d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian stromal cancer"; "NCIT:C40026" . _:f796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:398934" . a owl:Class; rdfs:subClassOf ; "Non-epithelial cancer of ovary"@en, "Ovarian malignant non-epithelial tumor"@en, "Ovarian non-epithelial cancer"@en; rdfs:label "Malignant non-epithelial tumor of ovary"@en; "ORPHA:398940" . a owl:Class; rdfs:subClassOf , , , ; "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia."; ; , , , , , , , ; "Huntington chorea"@en; "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia."@en; "orphanet", "orphanet"@en; "true"; "COHD:374341", "DOID:12858", "GARD:0006677", "ICD-10:G10", "ICD10:G10", "ICD9:333.4", "KEGG:05016", "MONDO:0007739", "MSH:D006816", "MeSH:D006816", "MedDRA:10070668", "NCIT:C82342", "OMIM:143100", "SCTID:58756001", "UMLS:C0020179"; "HD", "Huntington chorea", "Huntington disease", "Huntington's chorea", "Huntington's disease"; "Huntington disease; HD"; "Orphanet:399"; ; rdfs:label "Huntington disease", "Huntington disease"@en; "ORPHA:399" . _:f79fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia."; "Orphanet:399" . _:f7a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:374341"; "MONDO:equivalentTo" . _:f7a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12858"; "MONDO:equivalentTo" . _:f7a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006677"; "MONDO:equivalentTo", "Orphanet-shared" . _:f7a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G10"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f7aad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23671; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23671 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G10"; "Specific code (The term has its own code in the ICD10)"@en . _:f7acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G10"; "DOID:12858", "ORDO:399/e", "ORDO:399/specific", "Orphanet:399" . _:f7b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:333.4"; "DOID:12858", "MONDO:equivalentTo", "i2s" . _:f7b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:05016"; "DOID:12858", "MONDO:equivalentTo" . _:f7b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006816"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f7b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070668"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f7b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070668"; "ORDO:399/e", "Orphanet:399" . _:f7b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C82342"; "DOID:12858", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:f7b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:143100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f7b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:143100"; "DOID:12858", "MONDO:equivalentTo", "ORDO:399/e", "Orphanet:399" . _:f7b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:58756001"; "DOID:12858", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:f7bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020179"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f7bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020179"; "DOID:12858", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C82342", "OMIM:143100", "ORDO:399/e", "Orphanet:399" . _:f7bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HD"; "CSP2005:2057-3283", "DOID:12858", "MONDO:Lexical", "OMIM:143100" . _:f7bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington chorea"; "OMIM:143100", "Orphanet:399" . _:f7c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington disease"; "DOID:12858", "MONDO:Lexical", "OMIM:143100" . _:f7c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington disease"; rdfs:comment "preferred label from MONDO" . _:f7ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington's chorea"; "DOID:12858", "ICD9CM_2006:333.4" . _:f7ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington's disease"; "MONDO:LexicalVariant", "doi:10.1093/jama/9780195176339.003.0016" . _:f7d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Huntington disease; HD"; "OMIM:143100" . _:f7d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399" . a owl:Class; rdfs:subClassOf , ; "Bone necrosis"@en; "ICD-10:M87.0", "ICD-10:M87.1", "ICD-10:M87.2", "ICD-10:M87.3", "ICD-10:M87.8", "ICD-10:M87.9", "UMLS:C0029445"; rdfs:label "Osteonecrosis"@en; "ORPHA:399158" . _:f7d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.0"; "NTBT (narrower term maps to a broader term)"@en . _:f7dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.1"; "NTBT (narrower term maps to a broader term)"@en . _:f7ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.2"; "NTBT (narrower term maps to a broader term)"@en . _:f7dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.3"; "NTBT (narrower term maps to a broader term)"@en . _:f7e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.8"; "NTBT (narrower term maps to a broader term)"@en . _:f7e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.9"; "NTBT (narrower term maps to a broader term)"@en . _:f7e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029445"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "AVN"@en; "ICD-10:M87.0", "ICD-10:M87.1", "ICD-10:M87.2", "ICD-10:M87.3", "ICD-10:M87.8", "ICD-10:M87.9"; rdfs:label "Avascular necrosis"@en; "ORPHA:399164" . _:f7ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.0"; "BTNT (broader term maps to a narrower term)"@en . _:f7ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.1"; "BTNT (broader term maps to a narrower term)"@en . _:f7edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.2"; "BTNT (broader term maps to a narrower term)"@en . _:f7eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.3"; "BTNT (broader term maps to a narrower term)"@en . _:f7efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.8"; "BTNT (broader term maps to a narrower term)"@en . _:f7f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.9"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf ; "Secondary AVN"@en; "ICD-10:M87.1", "ICD-10:M87.2", "ICD-10:M87.3"; rdfs:label "Secondary avascular necrosis"@en; "ORPHA:399169" . _:f7f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.1"; "NTBT (narrower term maps to a broader term)"@en . _:f7f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.2"; "NTBT (narrower term maps to a broader term)"@en . _:f7fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M87.3"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0018377", "UMLS:CN205038"; "rare hereditary disease with avascular necrosis"; "Orphanet:399185"; , ; rdfs:label "Rare hereditary disease with avascular necrosis", "Rare hereditary disease with avascular necrosis"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:399185" . _:f7fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205038"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:f7fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hereditary disease with avascular necrosis"; rdfs:comment "preferred label from MONDO" . _:f7ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399185" . a owl:Class; rdfs:subClassOf ; "ICD-10:K10.2", "UMLS:C2711248"; rdfs:label "Osteonecrosis of the jaw"@en; "ORPHA:399293" . _:f800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K10.2"; "NTBT (narrower term maps to a broader term)"@en . _:f801d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2711248"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "An instance of osteonecrosis that is caused by a modification of the individual's genome."; ; "Bone necrosis of genetic origin"@en; "ICD-10:M93.9", "ICD10:M93.9", "MONDO:0018383"; "Bone necrosis of genetic origin", "bone necrosis of genetic origin", "genetic osteonecrosis", "osteonecrosis of genetic origin"; "Orphanet:399380"; ; rdfs:label "Osteonecrosis of genetic origin", "Osteonecrosis of genetic origin"@en; "ORPHA:399380" . _:f80ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of osteonecrosis that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:f80cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23715; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23715 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M93.9"; "Attributed"@en . _:f80dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M93.9"; "NTBT (narrower term maps to a broader term)"@en . _:f80fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M93.9"; "ORDO:399380/attributed", "ORDO:399380/ntbt", "Orphanet:399380" . _:f811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bone necrosis of genetic origin"; "Orphanet:399380" . _:f813d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic osteonecrosis"; "MONDO:patterns/genetic" . _:f815d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteonecrosis of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f818d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399380" . a owl:Class; rdfs:subClassOf , ; "An instance of avascular necrosis that is caused by a modification of the individual's genome."; ; "ICD-10:M93.9", "ICD10:M93.9", "MONDO:0018384"; "avascular necrosis of genetic origin", "genetic avascular necrosis"; "Orphanet:399388"; ; rdfs:label "Avascular necrosis of genetic origin", "Avascular necrosis of genetic origin"@en; "ORPHA:399388" . _:f81bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of avascular necrosis that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:f81cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23724; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23724 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M93.9"; "Attributed"@en . _:f820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M93.9"; "NTBT (narrower term maps to a broader term)"@en . _:f821d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M93.9"; "ORDO:399388/attributed", "ORDO:399388/ntbt", "Orphanet:399388" . _:f823d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "avascular necrosis of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f825d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic avascular necrosis"; "MONDO:patterns/genetic" . _:f827d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399388" . a owl:Class; rdfs:subClassOf ; "Rare male infertility due to gonadotropic axis disorder"@en, "Rare male infertility due to hypothalamic-pituitary-testicular axis disorder"@en; "ICD-10:N46"; rdfs:label "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder"@en; "ORPHA:399572" . _:f828d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N46"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:N46"; rdfs:label "Rare male infertility due to adrenal disorder"@en; "ORPHA:399584" . _:f82bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N46"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:N46", "ICD10:N46", "MONDO:0018388", "UMLS:CN227336"; "rare male infertility due to testicular endocrine disorder"; "Orphanet:399685"; , ; rdfs:label "Rare male infertility due to testicular endocrine disorder", "Rare male infertility due to testicular endocrine disorder"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:399685" . _:f82ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23733; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23733 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N46"; "Attributed"@en . _:f830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N46"; "NTBT (narrower term maps to a broader term)"@en . _:f833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399685/attributed", "ORDO:399685/ntbt", "Orphanet:399685" . _:f836d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227336"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:f837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare male infertility due to testicular endocrine disorder"; rdfs:comment "preferred label from MONDO" . _:f838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399685" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:N46", "MONDO:0018389", "UMLS:CN227337"; "Male infertility due to testicular dysgenesis or sperm disorder", "male infertility due to gonadal dysgenesis or sperm disorder"; "Orphanet:399764"; ; rdfs:label "Male infertility due to gonadal dysgenesis or sperm disorder" . _:f869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399764/attributed", "ORDO:399764/ntbt", "Orphanet:399764" . _:f86ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227337"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:f86bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male infertility due to testicular dysgenesis or sperm disorder"; "Orphanet:399764" . _:f86cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male infertility due to gonadal dysgenesis or sperm disorder"; rdfs:comment "preferred label from MONDO" . _:f86dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399764" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:N46", "MONDO:0018390", "UMLS:CN227338"; "male infertility due to sperm disorder"; "Orphanet:399771"; ; rdfs:label "Male infertility due to sperm disorder" . _:f870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399771/attributed", "ORDO:399771/ntbt", "Orphanet:399771" . _:f872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227338"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:f874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male infertility due to sperm disorder"; rdfs:comment "preferred label from MONDO" . _:f876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399771" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:N46", "MONDO:0018395", "UMLS:CN227341"; "Male infertility due to asthenozoospermia", "male infertility due to sperm motility disorder"; "Orphanet:399813"; ; rdfs:label "Male infertility due to sperm motility disorder" . _:f879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399813/attributed", "ORDO:399813/ntbt", "Orphanet:399813" . _:f87cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227341"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f87dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male infertility due to asthenozoospermia"; "Orphanet:399813" . _:f87fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male infertility due to sperm motility disorder"; rdfs:comment "preferred label from MONDO" . _:f882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399813" . a owl:Class; rdfs:subClassOf ; "Rare female infertility due to gonadotropic axis disorder"@en, "Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder"@en; "ICD-10:N97.0"; rdfs:label "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder"@en; "ORPHA:399831" . _:f888d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N97.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; ; "ICD-10:N97.0", "ICD10:N97.0", "MONDO:0018398"; "female infertility due to a congenital hypogonadotropic hypogonadism"; "Orphanet:399839"; , ; rdfs:label "Rare female infertility due to a congenital hypogonadotropic hypogonadism", "Rare female infertility due to a congenital hypogonadotropic hypogonadism"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:399839" . _:f893d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23755; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23755 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N97.0"; "Attributed"@en . _:f894d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N97.0"; "NTBT (narrower term maps to a broader term)"@en . _:f895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97.0"; "ORDO:399839/attributed", "ORDO:399839/ntbt", "Orphanet:399839" . _:f897d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female infertility due to a congenital hypogonadotropic hypogonadism"; rdfs:comment "preferred label from MONDO" . _:f898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399839" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0018399"; "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism"; "Orphanet:399846"; , ; rdfs:comment "Editor note: consider merge"; rdfs:label "Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:f89ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism"; rdfs:comment "preferred label from MONDO" . _:f89dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399846" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare female infertility due to an adrenal disorder"@en; "ORPHA:399849" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:N97.0", "MONDO:0018402"; "Female infertility due to ovarian dysgenesis", "female infertility due to gonadal dysgenesis", "female infertility due to ovarian dysgenesis", "rare female infertility due to ovarian dysgenesis"; "rare female infertility due to gonadal dysgenesis"; "Orphanet:399877"; ; rdfs:label "Female infertility due to gonadal dysgenesis" . _:f8a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97.0"; "ORDO:399877/attributed", "ORDO:399877/ntbt", "Orphanet:399877" . _:f8a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female infertility due to gonadal dysgenesis"; rdfs:comment "preferred label from MONDO" . _:f8abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female infertility due to ovarian dysgenesis"; "Orphanet:399877" . _:f8acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to ovarian dysgenesis"; "Orphanet:399877" . _:f8add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to gonadal dysgenesis"; "Orphanet:399877" . _:f8b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399877" . a owl:Class; rdfs:subClassOf , ; "ICD10:N46"; rdfs:label "Rare genetic male infertility", "Rare genetic male infertility"@en; "ORPHA:399980" . a owl:Class; rdfs:subClassOf , ; "An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome."; , ; "Rare male infertility due to gonadotropic axis disorder of genetic origin"@en, "Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin"@en; "ICD-10:N46", "ICD10:N46", "MONDO:0018405", "UMLS:CN227350"; "Rare male infertility due to gonadotropic axis disorder of genetic origin", "Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin", "genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder", "rare male infertility due to gonadotropic axis disorder of genetic origin", "rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin", "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin"; "Orphanet:399983"; , ; rdfs:label "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin", "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:399983" . _:f8b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:f8bad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23770; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23770 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N46"; "Attributed"@en . _:f8bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N46"; "NTBT (narrower term maps to a broader term)"@en . _:f8bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399983/attributed", "ORDO:399983/ntbt", "Orphanet:399983" . _:f8c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227350"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f8c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder"; "MONDO:patterns/genetic" . _:f8c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare male infertility due to gonadotropic axis disorder of genetic origin"; "Orphanet:399983" . _:f8c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f8c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin"; "Orphanet:399983" . _:f8cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399983" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:N46", "MONDO:0018406", "UMLS:CN227351"; "rare male infertility due to adrenal disorder of genetic origin"; "Orphanet:399994"; , ; rdfs:label "Rare male infertility due to adrenal disorder of genetic origin"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:f8d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399994/attributed", "ORDO:399994/ntbt", "Orphanet:399994" . _:f8d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227351"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f8d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare male infertility due to adrenal disorder of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f8d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399994" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:N46", "MONDO:0018407"; "Male infertility due to impaired sperm transport of genetic origin", "male infertility due to obstructive azoospermia of genetic origin"; "Orphanet:399998"; ; rdfs:label "Male infertility due to obstructive azoospermia of genetic origin" . _:f8ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N46"; "MONDO:subClassOf", "ORDO:399998/attributed", "ORDO:399998/ntbt", "Orphanet:399998" . _:f8dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male infertility due to impaired sperm transport of genetic origin"; "Orphanet:399998" . _:f8e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male infertility due to obstructive azoospermia of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f8e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:399998" . a owl:Class; rdfs:subClassOf ; "Hydatid disease"@en, "Hydatidosis"@en; "Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement."@en; "orphanet"@en; "ICD-10:B67.0", "ICD-10:B67.1", "ICD-10:B67.2", "ICD-10:B67.3", "ICD-10:B67.4", "ICD-10:B67.5", "ICD-10:B67.6", "ICD-10:B67.7", "ICD-10:B67.8", "ICD-10:B67.9", "MeSH:D004443", "MedDRA:10014096", "UMLS:C0013502"; rdfs:label "Cystic echinococcosis"@en; "ORPHA:400" . _:f8e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.0"; "BTNT (broader term maps to a narrower term)"@en . _:f8e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.1"; "BTNT (broader term maps to a narrower term)"@en . _:f8e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.2"; "BTNT (broader term maps to a narrower term)"@en . _:f8e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.3"; "BTNT (broader term maps to a narrower term)"@en . _:f8e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.4"; "BTNT (broader term maps to a narrower term)"@en . _:f8e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.5"; "BTNT (broader term maps to a narrower term)"@en . _:f8e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.6"; "BTNT (broader term maps to a narrower term)"@en . _:f8ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.7"; "BTNT (broader term maps to a narrower term)"@en . _:f8eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.8"; "BTNT (broader term maps to a narrower term)"@en . _:f8f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B67.9"; "BTNT (broader term maps to a narrower term)"@en . _:f8f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D004443"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f8f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10014096"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f8f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013502"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0018409", "UMLS:CN227352"; "Rare genetic disorder due to impaired sperm transport", "rare genetic disorder due to impaired sperm transport", "rare genetic disorder with obstructive azoospermia"; "Orphanet:400003"; , ; rdfs:comment "Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens"; rdfs:label "Rare genetic disorder with obstructive azoospermia"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:f8fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227352"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f8fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic disorder due to impaired sperm transport"; "Orphanet:400003" . _:f8fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic disorder with obstructive azoospermia"; rdfs:comment "preferred label from MONDO" . _:f8ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:400003" . a owl:Class; rdfs:subClassOf , ; "OMIM:616814", "OMIM:617234"; rdfs:label "Rare genetic female infertility", "Rare genetic female infertility"@en; "ORPHA:400008" . _:f902d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616814"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , ; "An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome."; , ; "Rare female infertility due to gonadotropic axis disorder of genetic origin"@en, "Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin"@en; "ICD-10:N97.0", "ICD10:N97.0", "MONDO:0018411", "UMLS:CN227354"; "Rare female infertility due to gonadotropic axis disorder of genetic origin", "Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin", "genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder", "rare female infertility due to gonadotropic axis disorder of genetic origin", "rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin", "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin"; "Orphanet:400011"; , ; rdfs:label "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin", "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:400011" . _:f90bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:f90dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23807; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23807 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N97.0"; "Attributed"@en . _:f910d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N97.0"; "NTBT (narrower term maps to a broader term)"@en . _:f911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97.0"; "ORDO:400011/attributed", "ORDO:400011/ntbt", "Orphanet:400011" . _:f912d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227354"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f913d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder"; "MONDO:patterns/genetic" . _:f914d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to gonadotropic axis disorder of genetic origin"; "Orphanet:400011" . _:f915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin"; "Orphanet:400011" . _:f917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:400011" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0018412", "UMLS:CN227355"; "rare female infertility due to adrenal disorder of genetic origin"; "Orphanet:400018"; , ; rdfs:label "Rare female infertility due to adrenal disorder of genetic origin"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:f919d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227355"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f91dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare female infertility due to adrenal disorder of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f91fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:400018" . a owl:Class; rdfs:subClassOf , , ; , ; ; "ICD10:N97.0", "MONDO:0018413", "UMLS:CN227356"; "female infertility due to an anomaly of ovarian function of genetic origin"; "Orphanet:400022"; , ; rdfs:label "Rare female infertility due to an anomaly of ovarian function of genetic origin"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:f921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDO:Redundant", "Orphanet:400022" . _:f922d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97.0"; "ORDO:400022/attributed", "ORDO:400022/ntbt", "Orphanet:400022" . _:f924d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227356"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f927d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female infertility due to an anomaly of ovarian function of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:400022" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:N97.2", "MONDO:0018414"; "female infertility due to an implantation defect of genetic origin"; "Orphanet:400025"; ; rdfs:label "Female infertility due to an implantation defect of genetic origin" . _:f92bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N97.2"; "MONDO:relatedTo", "ORDO:400025/attributed", "ORDO:400025/ntbt", "Orphanet:400025" . _:f92dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "female infertility due to an implantation defect of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f92ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:400025" . a owl:Class; rdfs:subClassOf , , , ; "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol."; "Dexamethasone-sensitive hypertension"@en, "FH-I"@en, "FH1"@en, "Familial hyperaldosteronism type 1"@en, "GRA"@en, "Glucocorticoid-remediable aldosteronism"@en, "Glucocorticoid-sensitive hypertension"@en; "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol."@en; "orphanet", "orphanet"@en; "ICD-10:E26.0", "ICD10:E26.0", "OMIM:103900", "UMLS:C1260386"; "Dexamethasone sensitive hypertension", "FH-I", "FH1", "GRA", "Glucocorticoid sensitive hypertension", "Glucocorticoid-remediable aldosteronism"; rdfs:label "Familial hyperaldosteronism type I", "Familial hyperaldosteronism type I"@en; "ORPHA:403" . _:f933d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23828; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23828 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "Attributed"@en . _:f937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "NTBT (narrower term maps to a broader term)"@en . _:f93ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:103900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f93cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1260386"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism."; , , , , , ; "FH-II"@en, "FH2"@en, "Familial adrenal adenoma"@en, "Familial hyperaldosteronism type 2"@en; "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism."@en; "orphanet", "orphanet"@en; "GARD:0002789", "ICD-10:E26.0", "ICD10:E26.0", "MESH:C565312", "MONDO:0011576", "OMIM:605635", "SCTID:703233008", "UMLS:C1854107", "UMLS:C3839212"; "FH-II", "FH2", "Familial adrenal adenoma", "Familial hyperaldosteronism type 2", "familial adrenal adenoma", "familial hyperaldosteronism type 2", "familial hyperaldosteronism type II"; "FH 2", "FHII", "HALD2", "hyperaldosteronism, familial, type II", "hyperaldosteronism, familial, type II; HALD2"; "Orphanet:404"; ; rdfs:label "Familial hyperaldosteronism type II", "Familial hyperaldosteronism type II"@en; "ORPHA:404" . _:f942d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism."; "Orphanet:404" . _:f945d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002789"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:f946d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23835; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23835 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:f948d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E26.0"; "NTBT (narrower term maps to a broader term)"@en . _:f949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E26.0"; "MONDO:subClassOf", "ORDO:404/inclusion", "ORDO:404/ntbt", "Orphanet:404" . _:f94cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C565312"; "MONDO:equivalentTo", "MONDO:ontobio" . _:f94ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605635"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605635"; "MONDO:equivalentTo", "ORDO:404/e", "Orphanet:404" . _:f953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703233008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:f955d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1854107"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f956d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1854107"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:605635", "Orphanet:404" . _:f957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3839212"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:f958d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH-II"; "Orphanet:404" . _:f959d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH2"; "Orphanet:404" . _:f95bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adrenal adenoma"; "Orphanet:404" . _:f95cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperaldosteronism type 2"; "Orphanet:404" . _:f964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperaldosteronism type II"; rdfs:comment "preferred label from MONDO" . _:f965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH 2"; "OMIM:605635" . _:f966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHII"; "GARD:0002789" . _:f967d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HALD2"; "OMIM:605635" . _:f968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperaldosteronism, familial, type II"; "OMIM:605635" . _:f969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperaldosteronism, familial, type II; HALD2"; "OMIM:605635" . _:f96ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:404" . a owl:Class; rdfs:subClassOf , , , , ; , , , ; "DNMT3A-related overgrowth syndrome"@en, "Tatton-Brown-Rahman overgrowth syndrome"@en; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0014382", "OMIM:615879", "OMIM:617537", "OMIM:617561", "SCTID:768843007", "UMLS:C4014545"; "DNMT3A-related overgrowth syndrome", "Tatton-Brown-Rahman overgrowth syndrome", "tall stature-intellectual disability-facial dysmorphism syndrome"; "TATTON-BROWN-Rahman syndrome", "TATTON-BROWN-Rahman syndrome; TBRS", "TBRS"; "Orphanet:404443"; ; rdfs:label "Tall stature-intellectual disability-facial dysmorphism syndrome", "Tall stature-intellectual disability-facial dysmorphism syndrome"@en; "ORPHA:404443" . _:f96bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23857; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23857 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:f96cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:f986d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:404443/attributed", "ORDO:404443/ntbt", "Orphanet:404443" . _:f988d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615879"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f989d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615879"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:f98bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615879"; "MONDO:equivalentTo", "ORDO:404443/e", "Orphanet:404443" . _:f98dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617537"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:f98fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617561"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:f991d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:768843007"; "MONDO:equivalentTo" . _:f992d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4014545"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:f993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNMT3A-related overgrowth syndrome"; "Orphanet:404443" . _:f994d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tatton-Brown-Rahman overgrowth syndrome"; "Orphanet:404443" . _:f996d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tall stature-intellectual disability-facial dysmorphism syndrome"; rdfs:comment "preferred label from MONDO" . _:f997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TATTON-BROWN-Rahman syndrome"; "MONDO:Lexical", "OMIM:615879" . _:f99dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TATTON-BROWN-Rahman syndrome; TBRS"; "OMIM:615879" . _:f99fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TBRS"; "MONDO:Lexical", "OMIM:615879" . _:f9a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:404443" . a owl:Class; rdfs:subClassOf , , , ; , ; "GLOW syndrome"@en; "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior."@en; "orphanet"@en; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0018445", "OMIM:618272", "UMLS:CN226190"; "GLOW syndrome", "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome", "glow syndrome"; "Orphanet:404476"; ; rdfs:label "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome", "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"@en; "ORPHA:404476" . _:f9a6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23875; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23875 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:f9abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:f9add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:404476/attributed", "ORDO:404476/ntbt", "Orphanet:404476" . _:f9b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618272"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f9b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN226190"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:f9b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome"; rdfs:comment "preferred label from MONDO" . _:f9b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glow syndrome"; "Orphanet:404476" . _:f9b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:404476" . a owl:Class; rdfs:subClassOf , , ; , , ; , ; ; "B-K mole syndrome"@en, "FAMM-PC syndrome"@en, "FAMMM syndrome"@en, "Familial Clark nevus syndrome"@en, "Familial atypical mole syndrome"@en, "Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome"@en, "Familial dysplastic nevus syndrome"@en, "Melanoma-pancreatic cancer syndrome"@en; "Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies."@en; "orphanet"@en; "ICD-10:D22.9", "ICD10:D22.9", "MONDO:0018453", "NCIT:C27264", "OMIM:155600", "OMIM:606719", "UMLS:C0013403", "UMLS:C0205747", "UMLS:C1838547", "UMLS:C2314896"; "B-K mole syndrome", "FAMM syndrome", "FAMM-PC syndrome", "FAMMM syndrome", "Familial atypical mole syndrome", "Familial dysplastic nevus syndrome", "familial Clark nevus syndrome", "familial atypical mole melanoma syndrome", "familial atypical mole syndrome", "familial atypical multiple mole melanoma syndrome", "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome", "familial dysplastic nevus syndrome", "melanoma-pancreatic cancer syndrome"; "Orphanet:404560"; ; rdfs:label "Familial atypical multiple mole melanoma syndrome", "Familial atypical multiple mole melanoma syndrome"@en; "ORPHA:404560" . _:f9bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:404560" . _:f9bcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23885; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "ND (not yet decided/unable to decide)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23885 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D22.9"; "Attributed"@en . _:f9c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D22.9"; "ND (not yet decided/unable to decide)"@en . _:f9c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D22.9"; "ORDO:404560/attributed", "ORDO:404560/nd", "Orphanet:404560" . _:f9c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27264"; "MONDO:equivalentTo" . _:f9c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155600"; "BTNT (broader term maps to a narrower term)"@en . _:f9c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606719"; "BTNT (broader term maps to a narrower term)"@en . _:f9c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606719"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:f9cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013403"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f9cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0205747"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f9ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1838547"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f9d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2314896"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:f9d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "B-K mole syndrome"; "Orphanet:404560" . _:f9d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAMM syndrome"; "NCIT:C27264" . _:f9d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAMM-PC syndrome"; "Orphanet:404560" . _:f9d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAMMM syndrome"; "Orphanet:404560" . _:f9d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial Clark nevus syndrome"; "Orphanet:404560" . _:f9d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial atypical mole melanoma syndrome"; "NCIT:C27264" . _:f9dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial atypical mole syndrome"; "Orphanet:404560" . _:f9dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial atypical multiple mole melanoma syndrome"; rdfs:comment "preferred label from MONDO" . _:f9dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome"; "Orphanet:404560" . _:f9e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial dysplastic nevus syndrome"; "Orphanet:404560" . _:f9e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanoma-pancreatic cancer syndrome"; "Orphanet:404560" . _:f9e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:404560" . a owl:Class; rdfs:subClassOf , , ; "An instance of dysostosis that is caused by a modification of the individual's genome."; ; "MONDO:0018454"; "dysostosis of genetic origin", "genetic dysostosis"; "Orphanet:404568"; ; rdfs:label "Dysostosis of genetic origin", "Dysostosis of genetic origin"@en; "ORPHA:404568" . _:f9e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of dysostosis that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:f9e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysostosis of genetic origin"; rdfs:comment "preferred label from MONDO" . _:f9e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic dysostosis"; "MONDO:patterns/genetic" . _:f9ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:404568" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0018455"; "dysostosis of genetic origin with limb anomaly as a major feature"; "Orphanet:404571"; , ; rdfs:label "Dysostosis of genetic origin with limb anomaly as a major feature", "Dysostosis of genetic origin with limb anomaly as a major feature"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI; "ORPHA:404571" . _:f9ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysostosis of genetic origin with limb anomaly as a major feature"; rdfs:comment "preferred label from MONDO" . _:f9edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:404571" . a owl:Class; rdfs:subClassOf , ; , ; "Orphanet:294955", "UMLS:CN203180"; "syndrome with limb reduction defects"; "Orphanet:404574"; ; rdfs:label "Genetic syndrome with limb reduction defects" . _:f9eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:294955"; "MONDO:equivalentTo" . _:f9efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN203180"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:f9f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with limb reduction defects"; rdfs:comment "preferred label from MONDO" . _:f9f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:294955" . a owl:Class; rdfs:subClassOf , , ; , ; "ICD10:Q87.2", "Orphanet:109009", "UMLS:CN197565"; "syndrome with limb malformations as a major feature"; "Orphanet:404577"; , ; rdfs:label "Genetic syndrome with limb malformations as a major feature"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI . _:f9f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.2"; "ORDO:109009/e", "Orphanet:109009" . _:fa01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:109009"; "MONDO:equivalentTo" . _:fa02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN197565"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:fa06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with limb malformations as a major feature"; rdfs:comment "preferred label from MONDO" . _:fa07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:109009" . a owl:Class; rdfs:subClassOf , , ; , ; "Rare genetic skeletal development disorder"@en; "MONDO:0018457", "UMLS:CN227376"; "Rare genetic skeletal development disorder", "rare genetic bone development disorder", "rare genetic skeletal development disorder"; "Orphanet:404584"; , ; rdfs:label "Rare genetic bone development disorder", "Rare genetic bone development disorder"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:404584" . _:fa0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227376"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:fa0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic bone development disorder"; rdfs:comment "preferred label from MONDO" . _:fa11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic skeletal development disorder"; "Orphanet:404584" . _:fa13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:404584" . a owl:Class; rdfs:subClassOf , , , , , ; "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration."; , , , , , ; "FBH"@en, "FBHH"@en, "FHH"@en, "Familial benign hypercalcemia"@en, "Familial benign hypocalciuric hypercalcemia"@en; "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration."@en; "orphanet", "orphanet"@en; "DOID:0060699", "GARD:0010828", "ICD-10:E83.5", "ICD10:E83.5", "MONDO:0018458", "NCIT:C123262", "OMIM:145980", "OMIM:145981", "OMIM:600740", "OMIMPS:145980", "SCTID:237885008", "UMLS:C0342637", "UMLS:C1809471"; "FBH", "FBHH", "FHH", "Familial benign hypercalcemia", "Familial benign hypocalciuric hypercalcemia", "familial benign hypercalcemia", "familial benign hypocalciuric hypercalcemia", "familial hypocalciuric hypercalcemia"; "FBH", "FBHH", "FHH", "hypocalciuric hypercalcemia"; "Orphanet:405"; ; rdfs:label "Familial hypocalciuric hypercalcemia", "Familial hypocalciuric hypercalcemia"@en; "ORPHA:405" . _:fa1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration."; "Orphanet:405" . _:fa1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060699"; "MONDO:equivalentTo" . _:fa21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010828"; "MONDO:equivalentTo", "Orphanet-shared" . _:fa23d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23931; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23931 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "Attributed"@en . _:fa29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "NTBT (narrower term maps to a broader term)"@en . _:fa2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.5"; "DOID:0060699", "ORDO:405/attributed", "ORDO:405/ntbt", "Orphanet:405" . _:fa2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123262"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.78/0.40" . _:fa2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145980"; "BTNT (broader term maps to a narrower term)"@en . _:fa2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145981"; "BTNT (broader term maps to a narrower term)"@en . _:fa2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600740"; "BTNT (broader term maps to a narrower term)"@en . _:fa2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:145980"; "DOID:0060699", "MONDO:equivalentTo" . _:fa30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237885008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.12" . _:fa31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342637"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:fa32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1809471"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fa33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1809471"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C123262", "Orphanet:405" . _:fa34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial benign hypercalcemia"; "DOID:0060699", "Orphanet:405" . _:fa35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial benign hypocalciuric hypercalcemia"; "DOID:0060699", "Orphanet:405" . _:fa36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia"; rdfs:comment "preferred label from MONDO" . _:fa37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBH"; "DOID:0060699", "Orphanet:405" . _:fa38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBHH"; "DOID:0060699", "Orphanet:405" . _:fa3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHH"; "DOID:0060699", "Orphanet:405" . _:fa41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia"; "OMIMPS:145980" . _:fa43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:405" . a owl:Class; rdfs:subClassOf , , , , , ; "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.", "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity."; "Sirarat Sarntivijai"; , ; , , , , , ; "NKA"@en, "Non-ketotic hyperglycinemia"@en; "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity."@en; "orphanet", "orphanet"@en; "DOID:9268", "GARD:0007219", "ICD-10:E72.5", "ICD10:E72.5", "ICD10:E72.51", "ICD9:270.7", "MONDO:0011612", "MSH:D020158", "NCIT:C84937", "OMIM:605899", "SCTID:237939006", "UMLS:C0751748"; "Hyperglycinemia, Nonketotic", "NKA", "Non-ketotic hyperglycinemia", "Non-ketotic hyperglycinemia (disorder)", "glycine encephalopathy", "non-ketotic hyperglycinemia", "nonketotic hyperglycinemia"; "GCE", "GLYCINE encephalopathy; GCE", "Glycine synthase deficiency", "hyperglycinemia nonketotic", "hyperglycinemia, Nonketotic", "hyperglycinemia, transient neonatal"; "Orphanet:407"; , ; rdfs:label "Glycine encephalopathy", "Glycine encephalopathy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy"^^xsd:anyURI; "ORPHA:407" . _:fa4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fa4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity."; "Orphanet:407" . _:fa50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sirarat Sarntivijai"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fa52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9268"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fa57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9268"; "MONDO:equivalentTo" . _:fa59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007219"; "MONDO:equivalentTo" . _:fa5cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23958; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23958 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:fa5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.5"; "NTBT (narrower term maps to a broader term)"@en . _:fa60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.5"; "ORDO:407/inclusion", "ORDO:407/ntbt", "Orphanet:407" . _:fa64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.51"; "DOID:9268" . _:fa65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.7"; "MONDO:relatedTo", "i2s" . _:fa69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH:D020158"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fa6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84937"; "DOID:9268", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:fa6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605899"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fa6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605899"; "DOID:9268", "MONDO:equivalentTo", "ORDO:407/e", "Orphanet:407" . _:fa71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237939006"; "DOID:9268", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.82/0.07" . _:fa73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751748"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fa74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751748"; "DOID:9268", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84937", "OMIM:605899", "Orphanet:407" . _:fa75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperglycinemia, Nonketotic"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fa79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NKA"; "Orphanet:407" . _:fa7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Non-ketotic hyperglycinemia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fa7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Non-ketotic hyperglycinemia (disorder)"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fa7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycine encephalopathy"; "MONDO:Lexical", "OMIM:605899" . _:fa81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycine encephalopathy"; rdfs:comment "preferred label from MONDO" . _:fa82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-ketotic hyperglycinemia"; "DOID:9268", "Orphanet:407" . _:fa83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonketotic hyperglycinemia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fa84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonketotic hyperglycinemia"; "CSP2005:1849-0664", "DOID:9268" . _:fa85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCE"; "MONDO:Lexical", "OMIM:605899" . _:fa86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLYCINE encephalopathy; GCE"; "OMIM:605899" . _:fa87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycine synthase deficiency"; "GARD:0007219" . _:fa88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperglycinemia nonketotic"; "GARD:0007219" . _:fa89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperglycinemia, Nonketotic"; "OMIM:605899" . _:fa8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperglycinemia, transient neonatal"; "OMIM:605899" . _:fa8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007219" . _:fa8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:407" . _:fa8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy"^^xsd:anyURI; "GARD:0007219" . a owl:Class; rdfs:subClassOf ; "Before birth."@en; rdfs:label "antenatal"@en . a owl:Class; rdfs:subClassOf ; "Intermediate cystinosis"@en, "Juvenile cystinosis"@en; "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."@en; "orphanet"@en; "ICD-10:E72.0+", "ICD-10:N16.3*", "OMIM:219900", "UMLS:C0268626"; rdfs:label "Juvenile nephropathic cystinosis"@en; "ORPHA:411634" . _:fa8fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23989; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23989 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0+"; "Attributed"@en . _:fa93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0+"; "NTBT (narrower term maps to a broader term)"@en . _:fa94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N16.3*"; "Attributed"@en . _:fa95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N16.3*"; "NTBT (narrower term maps to a broader term)"@en . _:fa97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:219900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fa99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268626"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.", "Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia."; , , , , , , ; "HHH syndrome"@en, "ORNT1 deficiency"@en, "Ornithine carrier deficiency"@en, "Ornithine translocase deficiency"@en, "Triple H syndrome"@en; "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction."@en; "orphanet", "orphanet"@en; "DOID:0050720", "GARD:0002830", "ICD-10:E72.4", "ICD10:E72.4", "MESH:C538380", "MONDO:0009393", "NCIT:C129029", "OMIM:238970", "SCTID:30287008", "UMLS:C0268540"; "HHH syndrome", "ORNT1 deficiency", "Triple H syndrome", "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome", "ornithine carrier deficiency", "ornithine translocase deficiency", "triple H syndrome"; "HHH", "HHHS", "Hhh syndrome", "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "ornithine translocase deficiency syndrome"; "Orphanet:415"; ; rdfs:label "Hyperornithinemia-hyperammonemia-homocitrullinuria", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"@en; "ORPHA:415" . _:fac7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction."; "Orphanet:415" . _:fac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050720"; "MONDO:equivalentTo" . _:facbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002830"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:faccd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid23999; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid23999 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.4"; "Attributed"@en . _:fadfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.4"; "NTBT (narrower term maps to a broader term)"@en . _:fae0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.4"; "ORDO:415/attributed", "ORDO:415/ntbt", "Orphanet:415" . _:fae1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538380"; "MONDO:equivalentTo", "MONDO:ontobio" . _:fae2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129029"; "MONDO:equivalentTo" . _:fae3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:238970"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:238970"; "DOID:0050720", "MONDO:equivalentTo", "ORDO:415/e", "Orphanet:415" . _:fae5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30287008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.89" . _:fae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268540"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268540"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:238970", "ORDO:415/e", "Orphanet:415" . _:fae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHH syndrome"; "DOID:0050720", "Orphanet:415" . _:fae9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORNT1 deficiency"; "Orphanet:415" . _:faedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome"; "DOID:0050720" . _:faeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ornithine carrier deficiency"; "Orphanet:415" . _:faf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ornithine translocase deficiency"; "OMIM:238970", "Orphanet:415" . _:faf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ornithine translocase deficiency"; rdfs:comment "preferred label from MONDO" . _:faf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triple H syndrome"; "Orphanet:415" . _:faf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHH"; "GARD:0002830" . _:faf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHHS"; "GARD:0002830" . _:faf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hhh syndrome"; "OMIM:238970" . _:fafbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"; "OMIM:238970" . _:fafdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ornithine translocase deficiency syndrome"; "GARD:0002830" . _:fb00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:415" . a owl:Class; rdfs:subClassOf , , , , ; "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.", "Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)."; , ; , , , , , , , , ; "Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)."@en; "orphanet", "orphanet"@en; "DOID:2977", "ICD-10:E74.8", "ICD10:E72.53", "ICD10:E74.8", "ICD9:271.8", "MESH:D006960", "MONDO:0002474", "MSH:D006959", "MeSH:D006959", "MedDRA:10020703", "NCIT:C123158", "OMIM:259900", "OMIM:260000", "OMIM:613616", "OMIMPS:259900", "SCTID:17901006", "UMLS:C0020500", "UMLS:C0020501"; "hyperoxaluria, primary", "primary hyperoxaluria"; "Orphanet:416"; ; rdfs:label "Primary hyperoxaluria", "Primary hyperoxaluria"@en; "ORPHA:416" . _:fb03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria."; "NCIT:P378" . _:fb05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2977"; "MONDO:equivalentTo" . _:fb06d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24025; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24025 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:fb0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.8"; "NTBT (narrower term maps to a broader term)"@en . _:fb0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.53"; "DOID:2977" . _:fb0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.8"; "ORDO:416/inclusion", "ORDO:416/ntbt", "Orphanet:416" . _:fb0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.8"; "MONDO:relatedTo", "i2s" . _:fb10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006960"; "DOID:2977", "MONDO:equivalentTo", "MONDO:ontobio" . _:fb11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006959"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020703"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020703"; "ORDO:416/e", "Orphanet:416" . _:fb16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123158"; "DOID:2977", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:fb17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:259900"; "BTNT (broader term maps to a narrower term)"@en . _:fb1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:260000"; "BTNT (broader term maps to a narrower term)"@en . _:fb1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613616"; "BTNT (broader term maps to a narrower term)"@en . _:fb1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:259900"; "MONDO:cjm", "MONDO:equivalentTo" . _:fb1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:17901006"; "DOID:2977", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:fb1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020501"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020501"; "DOID:2977", "MONDO:equivalentTo", "NCIT:C123158", "Orphanet:416" . _:fb22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperoxaluria, primary"; "OMIMPS:259900" . _:fb23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hyperoxaluria"; "MONDO:0018478" . _:fb27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary hyperoxaluria"; rdfs:comment "preferred label from MONDO" . _:fb29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:416" . a owl:Class; rdfs:subClassOf , , , ; " 3.5 mM) from birth and associated with major hyperparathyroidism.", "3.5 mM) from birth and associated with major hyperparathyroidism."; ; , , , , , ; "NSHPT"@en; "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism."@en; "orphanet", "orphanet"@en; "GARD:0002838", "ICD-10:E21.0", "ICD10:E21.0", "MESH:C563375", "MONDO:0009397", "NCIT:C131853", "OMIM:239200", "OMIM:618188", "SCTID:715218009", "UMLS:C1832615"; "NSHPT", "neonatal severe primary hyperparathyroidism"; "Nsph", "hyperparathyroidism, neonatal severe", "hyperparathyroidism, neonatal severe primary", "hyperparathyroidism, neonatal severe; NSHPT", "neonatal severe hyperparathyroidism"; "Orphanet:417"; ; rdfs:label "Neonatal severe primary hyperparathyroidism", "Neonatal severe primary hyperparathyroidism"@en; "ORPHA:417" . _:fb2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3.5 mM) from birth and associated with major hyperparathyroidism."; "Orphanet:417" . _:fb2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002838"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:fb2ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24050; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24050 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "Attributed"@en . _:fb34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "NTBT (narrower term maps to a broader term)"@en . _:fb36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E21.0"; "ORDO:417/attributed", "ORDO:417/ntbt", "Orphanet:417" . _:fb38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563375"; "MONDO:equivalentTo", "MONDO:ontobio" . _:fb3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131853"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:fb3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:239200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:239200"; "MONDO:equivalentTo", "ORDO:417/e", "Orphanet:417" . _:fb40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618188"; "BTNT (broader term maps to a narrower term)"@en . _:fb42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715218009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:fb43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832615"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832615"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C131853", "Orphanet:417" . _:fb45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSHPT"; "MONDO:Lexical", "OMIM:239200", "Orphanet:417" . _:fb47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neonatal severe primary hyperparathyroidism"; rdfs:comment "preferred label from MONDO" . _:fb48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nsph"; "OMIM:239200" . _:fb49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism, neonatal severe"; "MONDO:Lexical", "OMIM:239200" . _:fb4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism, neonatal severe primary"; "OMIM:239200" . _:fb4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism, neonatal severe; NSHPT"; "OMIM:239200" . _:fb50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neonatal severe hyperparathyroidism"; "GARD:0002838" . _:fb51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:417" . a owl:Class; rdfs:subClassOf , , , , , , ; "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease."; , , ; , , , , , , , ; "CAH"@en; "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease."@en; "orphanet", "orphanet"@en; "DOID:0050811", "GARD:0001467", "ICD-10:E25.0", "ICD10:E25", "ICD10:E25.0", "ICD10:E25.9", "ICD9:255.2", "MESH:D000312", "MONDO:0018479", "MSH:D000312", "MeSH:D000312", "MedDRA:10010323", "NCIT:C34360", "OMIM:201710", "OMIM:201810", "OMIM:201910", "OMIM:202010", "OMIM:202110", "OMIM:613571", "SCTID:237751000", "UMLS:C0001627", "UMLS:C0701163"; "CAH", "adrenal hyperplasia", "adrenal hyperplasia, congenital", "adrenogenital disorder", "adrenogenital syndrome", "congenital adrenal gland hyperplasia", "congenital adrenal hyperplasia", "congenital lipoid adrenal hyperplasia", "lipoid CAH"; "Orphanet:418"; ; rdfs:label "Congenital adrenal hyperplasia", "Congenital adrenal hyperplasia"@en; "ORPHA:418" . _:fb58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease."; "Orphanet:418" . _:fb5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050811"; "MONDO:equivalentTo" . _:fb5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001467"; "MONDO:equivalentTo", "Orphanet-shared" . _:fb60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb62d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24074; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24074 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "Specific code (The term has its own code in the ICD10)"@en . _:fb64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25"; "DOID:0050811" . _:fb65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.0"; "ORDO:418/e", "ORDO:418/specific", "Orphanet:418" . _:fb66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.9"; "DOID:0050811" . _:fb69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.2"; "DOID:0050811" . _:fb6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000312"; "MONDO:equivalentTo", "ORDO:418/e", "Orphanet:418" . _:fb6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000312"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010323"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010323"; "ORDO:418/e", "Orphanet:418" . _:fb70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34360"; "MONDO:equivalentTo" . _:fb71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201710"; "BTNT (broader term maps to a narrower term)"@en . _:fb72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201810"; "BTNT (broader term maps to a narrower term)"@en . _:fb73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201910"; "BTNT (broader term maps to a narrower term)"@en . _:fb74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202010"; "BTNT (broader term maps to a narrower term)"@en . _:fb75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202110"; "BTNT (broader term maps to a narrower term)"@en . _:fb76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613571"; "BTNT (broader term maps to a narrower term)"@en . _:fb78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237751000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.76/0.27" . _:fb7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001627"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fb7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001627"; "MONDO:equivalentTo", "NCIT:C34360", "ORDO:418/e", "Orphanet:418" . _:fb87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0701163"; "DOID:0050811", "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:fb89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAH"; "Orphanet:418" . _:fb8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia"; "NCIT:C34360" . _:fb8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, congenital"; "NCIT:C34360" . _:fb8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenogenital disorder"; "NCIT:C34360" . _:fb8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenogenital syndrome"; "NCIT:C34360" . _:fb91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal gland hyperplasia"; "NCIT:C34360" . _:fb93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia"; rdfs:comment "preferred label from MONDO" . _:fb96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipoid adrenal hyperplasia"; "DOID:0050811" . _:fb98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid CAH"; "DOID:0050811" . _:fb99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:418" . a owl:Class; rdfs:subClassOf ; "Sotos syndrome 2"@en; "Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies."@en; "orphanet"@en; "ICD-10:Q87.3", "OMIM:614753"; rdfs:label "Malan overgrowth syndrome"@en; "ORPHA:420179" . _:fb9dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24105; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24105 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:fb9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:fba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614753"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "SCID due to CTPS1 deficiency"@en; "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella)), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens."@en; "orphanet"@en; "ICD-10:D81.2", "OMIM:615897"; rdfs:label "Severe combined immunodeficiency due to CTPS1 deficiency"@en; "ORPHA:420573" . _:fba2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24109; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24109 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "Attributed"@en . _:fba7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.2"; "NTBT (narrower term maps to a broader term)"@en . _:fba8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615897"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2."@en; "orphanet"@en; "ICD-10:D70"; rdfs:label "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"@en; "ORPHA:420699" . _:fbacd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24113; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24113 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Attributed"@en . _:fbadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated."@en; "orphanet"@en; "ICD-10:D70", "OMIM:617014"; rdfs:label "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"@en; "ORPHA:420702" . _:fbaed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24116; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24116 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Attributed"@en . _:fbb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:fbb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617014"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown .", "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown."; , , ; , ; ; "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ."@en; "orphanet", "orphanet"@en; "ICD-10:I27.0", "ICD10:I27.0", "MONDO:0008347", "OMIM:178600", "OMIM:265400", "OMIM:615342", "OMIM:615343", "OMIM:615344", "UMLS:CN205068"; "IFPAH", "idiopathic and/or familial pulmonary arterial hypertension", "pulmonary hypertension, primary, type 1"; "PPH1", "pulmonary hypertension, primary, 1"; "Orphanet:422"; ; rdfs:label "Idiopathic and/or familial pulmonary arterial hypertension", "Idiopathic and/or familial pulmonary arterial hypertension"@en; "ORPHA:422" . _:fbb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ."; "Orphanet:422" . _:fbb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:422" . _:fbb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fbbad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24123; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24123 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I27.0"; "Specific code (The term has its own code in the ICD10)"@en . _:fbbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I27.0"; "MONDO:subClassOf", "ORDO:422/e", "ORDO:422/specific", "Orphanet:422" . _:fbbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:178600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fbbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:265400"; "BTNT (broader term maps to a narrower term)"@en . _:fbbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615342"; "BTNT (broader term maps to a narrower term)"@en . _:fbbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615343"; "BTNT (broader term maps to a narrower term)"@en . _:fbc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615344"; "BTNT (broader term maps to a narrower term)"@en . _:fbf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205068"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:fbf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFPAH"; "MONDO:cjm" . _:fbf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic and/or familial pulmonary arterial hypertension"; rdfs:comment "preferred label from MONDO" . _:fbfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary hypertension, primary, type 1"; "MONDORULE:1", "OMIM:178600" . _:fbfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPH1"; "MONDO:Lexical", "OMIM:178600" . _:fbfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary hypertension, primary, 1"; "MONDO:Lexical", "OMIM:178600" . _:fbffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:422" . a owl:Class; rdfs:subClassOf ; rdfs:label "3-Phosphoglycerate dehydrogenase deficiency"@en; "ORPHA:422519" . a owl:Class; rdfs:subClassOf , , , , ; "Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat."; , , , , , ; , , , , , , ; ; "Hyperthermia of anesthesia"@en; "Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat."@en; "orphanet"@en; "DOID:8545", "HP:0002047", "ICD-10:T88.3", "ICD10:T88.3", "ICD9:995.86", "MESH:D008305", "MONDO:0018493", "MSH:D008305", "MeSH:D008305", "MedDRA:10020844", "NCIT:C84869", "OMIM:145600", "OMIM:154275", "OMIM:154276", "OMIM:600467", "OMIM:601887", "OMIM:601888", "OMIMPS:145600", "SCTID:405501007", "UMLS:C0024591"; "Hyperthermia of anesthesia", "Malignant hyperpyrexia", "Pharmacogenetic myopathy of anesthesia", "anesthesia related hyperthermia", "hyperthermia of anesthesia", "malignant hyperpyrexia", "malignant hyperpyrexia due to anesthesia", "malignant hyperthermia", "malignant hyperthermia of anesthesia", "malignant hyperthermia syndrome"; "Orphanet:423"; , ; rdfs:label "Malignant hyperthermia", "Malignant hyperthermia of anesthesia"@en; "ORPHA:423" . _:fc0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat."; "Orphanet:423" . _:fc11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C84869" . _:fc13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8545"; "MONDO:equivalentTo" . _:fc16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0002047"; "MONDO:otherHierarchy", "ontobio" . _:fc18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T88.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fc1ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24143; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24143 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T88.3"; "Specific code (The term has its own code in the ICD10)"@en . _:fc1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:T88.3"; "DOID:8545", "ORDO:423/e", "ORDO:423/specific", "Orphanet:423" . _:fc20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:995.86"; "DOID:8545" . _:fc22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008305"; "DOID:8545", "MONDO:equivalentTo", "ORDO:423/e", "Orphanet:423" . _:fc2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008305"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fc2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020844"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fc2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020844"; "ORDO:423/e", "Orphanet:423" . _:fc2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84869"; "DOID:8545", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.30" . _:fc2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fc2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154275"; "BTNT (broader term maps to a narrower term)"@en . _:fc30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154276"; "BTNT (broader term maps to a narrower term)"@en . _:fc31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600467"; "BTNT (broader term maps to a narrower term)"@en . _:fc32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601887"; "BTNT (broader term maps to a narrower term)"@en . _:fc33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601888"; "BTNT (broader term maps to a narrower term)"@en . _:fc34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:145600"; "MONDO:cjm", "MONDO:equivalentTo" . _:fc38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:405501007"; "DOID:8545", "MONDO:equivalentTo" . _:fc3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024591"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fc3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024591"; "DOID:8545", "MONDO:equivalentTo", "NCIT:C84869", "ORDO:423/e", "Orphanet:423" . _:fc3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anesthesia related hyperthermia"; "CSP2005:2871-4352", "DOID:8545" . _:fc3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperthermia of anesthesia"; "Orphanet:423" . _:fc41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant hyperpyrexia"; "NCIT:C84869" . _:fc42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant hyperpyrexia due to anesthesia"; "DOID:8545", "MTHICD9_2006:995.86" . _:fc47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant hyperthermia"; "MONDO:ambiguous" . _:fc48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant hyperthermia of anesthesia"; rdfs:comment "preferred label from MONDO" . _:fc4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant hyperthermia syndrome"; "NCIT:C84869" . _:fc4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:423" . a owl:Class; rdfs:subClassOf ; "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coractation of aorta, as well as bone and urogenital abnormalities, may also be associated."@en; "orphanet"@en; "ICD-10:D70", "OMIM:616022"; rdfs:label "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"@en; "ORPHA:423384" . _:fc50d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24170; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24170 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Attributed"@en . _:fc54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:fc55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616022"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "UMLS:C1145628"; rdfs:label "Rare autonomic nervous system disorder"@en; "ORPHA:423662" . _:fc60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1145628"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history."; , , , ; "Familial non-immune hyperthyroidism"@en, "Resistance to thyroid stimulating hormone"@en; "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history."@en; "orphanet", "orphanet"@en; "GARD:0002858", "ICD-10:E05.8", "ICD10:E05.8", "MESH:C563786", "MONDO:0012203", "OMIM:609152", "UMLS:C1836706"; "Familial non-immune hyperthyroidism", "Resistance to thyroid stimulating hormone", "familial hyperthyroidism due to mutations in TSH receptor", "familial non-immune hyperthyroidism", "resistance to thyroid stimulating hormone"; "Nonautoimmune hyperthyroidism", "hyperthyroidism, NONAUTOIMMUNE", "hyperthyroidism, Nonautoimmune, autosomal dominant", "hyperthyroidism, congenital Nonautoimmune", "toxic Thyroid hyperplasia, autosomal dominant"; "Orphanet:424"; ; rdfs:label "Familial hyperthyroidism due to mutations in TSH receptor", "Familial hyperthyroidism due to mutations in TSH receptor"@en; "ORPHA:424" . _:fc64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history."; "Orphanet:424" . _:fc66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002858"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:fc67d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24177; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24177 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E05.8"; "Attributed"@en . _:fc69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E05.8"; "NTBT (narrower term maps to a broader term)"@en . _:fc6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E05.8"; "ORDO:424/attributed", "ORDO:424/ntbt", "Orphanet:424" . _:fc6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563786"; "MONDO:equivalentTo" . _:fc6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609152"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fc6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609152"; "MONDO:equivalentTo", "ORDO:424/e", "Orphanet:424" . _:fc71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1836706"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:609152" . _:fc72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperthyroidism due to mutations in TSH receptor"; rdfs:comment "preferred label from MONDO" . _:fc73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial non-immune hyperthyroidism"; "Orphanet:424" . _:fc74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "resistance to thyroid stimulating hormone"; "Orphanet:424" . _:fc75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonautoimmune hyperthyroidism"; "GARD:0002858" . _:fc76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperthyroidism, NONAUTOIMMUNE"; "OMIM:609152" . _:fc77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperthyroidism, Nonautoimmune, autosomal dominant"; "OMIM:609152" . _:fc78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperthyroidism, congenital Nonautoimmune"; "OMIM:609152" . _:fc79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "toxic Thyroid hyperplasia, autosomal dominant"; "OMIM:609152" . _:fc7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:424" . a owl:Class; rdfs:subClassOf ; "Rare epithelial tumor of liver and IBT"@en; rdfs:label "Rare epithelial tumor of liver and intrahepatic biliary tract"@en; "ORPHA:424933" . a owl:Class; rdfs:subClassOf ; "Carcinoma of liver and IBT"@en; "UMLS:C0221287"; rdfs:label "Carcinoma of liver and intrahepatic biliary tract"@en; "ORPHA:424936" . _:fc7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221287"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; rdfs:label "Inherited digestive cancer-predisposing syndrome"@en; "ORPHA:425003" . a owl:Class; rdfs:subClassOf , , , , ; "PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis."; ; , , , , ; ; "Marshall syndrome with periodic fever"@en, "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"@en; "PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis."@en; "orphanet", "orphanet"@en; "GARD:0005657", "ICD-10:E85.0", "ICD10:E85.0", "MONDO:0018540", "NCIT:C116917", "SCTID:717231003", "UMLS:C2938935", "UMLS:C4082167", "UMLS:CN205072"; "Marshall syndrome", "Marshall syndrome with periodic fever", "PFAPA", "PFAPA syndrome", "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome", "periodic fever, aphthous stomatitis, pharyngitis and adenitis", "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome", "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"; "Orphanet:42642"; ; rdfs:comment "Editor note: TODO check NCIT assigns this to be autoimmune but this is likely a mistake"; rdfs:label "PFAPA syndrome", "PFAPA syndrome"@en; "ORPHA:42642" . _:fc87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis."; "Orphanet:42642" . _:fc88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C116917" . _:fc89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005657"; "MONDO:equivalentTo", "Orphanet-shared" . _:fc8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.0"; "NTBT (narrower term maps to a broader term)"@en . _:fc90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "ORDO:42642/ntbt", "Orphanet:42642" . _:fc91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C116917"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.76/1.21" . _:fc92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717231003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.37" . _:fc94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2938935"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fc95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4082167"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo", "NCIT:C116917" . _:fc96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205072"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:fc97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marshall syndrome"; "NCIT:C116917" . _:fc98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marshall syndrome with periodic fever"; "Orphanet:42642" . _:fc99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PFAPA"; "GARD:0005657" . _:fc9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PFAPA syndrome"; rdfs:comment "preferred label from MONDO" . _:fc9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodic fever, aphthous stomatitis, pharyngitis and adenitis"; "GARD:0005657" . _:fc9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome"; "NCIT:C116917" . _:fc9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"; "Orphanet:42642" . _:fc9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:42642" . a owl:Class; rdfs:subClassOf ; , , , , , ; "Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit."@en; "orphanet"@en; "DOID:0050590", "ICD-10:D70", "ICD10:D70", "ICD9:288.01", "MONDO:0018542", "MSH:C537592", "MeSH:C537592", "MedDRA:10052210", "OMIM:616022", "OMIM:617014", "OMIMPS:202700", "SCTID:89655007", "UMLS:C1853118"; "SCN", "neutropenia, severe congenital", "severe congenital neutropenia"; "Orphanet:42738"; ; rdfs:label "Severe congenital neutropenia", "Severe congenital neutropenia"@en; "ORPHA:42738" . _:fcbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050590"; "MONDO:equivalentTo" . _:fcbed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24214; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24214 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Attributed"@en . _:fcbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:fcc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70"; "DOID:0050590", "MONDO:subClassOf", "ORDO:42738/attributed", "ORDO:42738/ntbt", "Orphanet:42738" . _:fcc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:288.01"; "MONDO:equivalentTo", "i2s" . _:fcc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537592"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fcc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10052210"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fcc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10052210"; "ORDO:42738/e", "Orphanet:42738" . _:fcc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616022"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fcc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617014"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fcc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:202700"; "MONDO:cjm", "MONDO:equivalentTo" . _:fcc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:89655007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.70/0.37/0.09" . _:fcc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853118"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia, severe congenital"; "OMIMPS:202700" . _:fccbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia"; rdfs:comment "preferred label from MONDO" . _:fcccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:42738" . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency."; , , , , ; , , , , , ; "ALD"@en, "X-ALD"@en, "X-linked ALD"@en; "X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency."@en; "orphanet", "orphanet"@en; "DOID:10588", "GARD:0005758", "ICD-10:E71.3", "ICD10:E71.3", "ICD10:E71.52", "ICD10:E71.529", "ICD10:G37.0", "ICD9:341.1", "MESH:D000326", "MONDO:0018544", "MSH:D000326", "MeSH:D000326", "MedDRA:10051260", "NCIT:C61252", "OMIM:300100", "OMIM:302700", "UMLS:C0162309"; "ALD", "Bronze-Schilder disease", "Schilder disease", "Schilder's disease", "Siemerling-Creutzfeldt disease", "X-ALD", "X-linked ALD", "X-linked adrenoleukodystrophy", "adrenoleukodystrophy, X-linked", "diffuse cerebral sclerosis of Schilder", "diffuse sclerosis", "encephalitis periaxialis concentrica", "encephalitis periaxialis, Schilder's", "sudanophilic cerebral sclerosis"; "adrenoleukodystrophy"; "Orphanet:43"; ; rdfs:label "X-linked adrenoleukodystrophy", "X-linked adrenoleukodystrophy"@en; "ORPHA:43" . _:fccdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency."; "Orphanet:43" . _:fcd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10588"; "MONDO:equivalentTo" . _:fcd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005758"; "MONDO:equivalentTo", "Orphanet-shared" . _:fcd7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24233; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24233 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:fcd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "NTBT (narrower term maps to a broader term)"@en . _:fcdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:43/inclusion", "ORDO:43/ntbt", "Orphanet:43" . _:fcdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.52"; "DOID:10588" . _:fce0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.529"; "DOID:10588" . _:fce1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G37.0"; "DOID:10588" . _:fce2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:341.1"; "DOID:10588", "MONDO:relatedTo" . _:fce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000326"; "DOID:10588", "MONDO:equivalentTo", "ORDO:43/e", "Orphanet:43" . _:fce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000326"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fcebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051260"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fcecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051260"; "ORDO:43/e", "Orphanet:43" . _:fcedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61252"; "DOID:10588", "MONDO:equivalentTo" . _:fceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fcefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:302700"; "BTNT (broader term maps to a narrower term)"@en . _:fcf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162309"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fcf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALD"; "CSP2005:4001-0003", "DOID:10588", "Orphanet:43" . _:fcf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bronze-Schilder disease"; "DOID:10588" . _:fcfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schilder disease"; "DOID:10588" . _:fcfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schilder's disease"; "DOID:10588" . _:fd01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Siemerling-Creutzfeldt disease"; "DOID:10588" . _:fd02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-ALD"; "Orphanet:43" . _:fd03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked ALD"; "Orphanet:43" . _:fd04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked adrenoleukodystrophy"; "DOID:10588", "MTHICD9_2006:277.86" . _:fd06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked adrenoleukodystrophy"; rdfs:comment "preferred label from MONDO" . _:fd09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenoleukodystrophy, X-linked"; "MONDO:patterns/x_linked" . _:fd0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse cerebral sclerosis of Schilder"; "DOID:10588" . _:fd0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diffuse sclerosis"; "CSP2005:2042-2215", "DOID:10588" . _:fd0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephalitis periaxialis concentrica"; "DOID:10588" . _:fd0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "encephalitis periaxialis, Schilder's"; "DOID:10588", "MTHICD9_2006:341.1" . _:fd10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sudanophilic cerebral sclerosis"; "DOID:10588" . _:fd11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenoleukodystrophy"; "DOID:10588" . _:fd13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:43" . a owl:Class; rdfs:subClassOf ; "Combined immunodeficiency with childhood-onset Kaposi sarcoma"@en, "Combined immunodeficiency with impaired immunity to HHV-8"@en, "Combined immunodeficiency with impaired immunity to human herpes virus 8"@en; "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma."@en; "orphanet"@en; "ICD-10:D81.8", "OMIM:615593"; rdfs:label "Combined immunodeficiency due to OX40 deficiency"@en; "ORPHA:431149" . _:fd49d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24266; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24266 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:fd4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:fd4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615593"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "X-linked SPMD"@en, "X-linked scapuloperoneal syndrome"@en; "A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging."@en; "orphanet"@en; "ICD-10:G71.0", "OMIM:300695"; rdfs:label "X-linked scapuloperoneal muscular dystrophy"@en; "ORPHA:431272" . _:fd53d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24270; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24270 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Attributed"@en . _:fd55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:fd58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300695"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction."@en; "orphanet"@en; rdfs:label "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"@en; "ORPHA:431353" . a owl:Class; rdfs:subClassOf , ; "Gonadotropic deficiency"@en, "Isolated congenital gonadotropin deficiency"@en, "Normosmic idiopathic hypogonadotropic hypogonadism"@en, "nIHH"@en; "ICD-10:E23.0", "ICD10:E23.0", "OMIM:146110", "OMIM:147950", "OMIM:228300", "OMIM:244200", "OMIM:308700", "OMIM:610628", "OMIM:612370", "OMIM:612702", "OMIM:614837", "OMIM:614838", "OMIM:614839", "OMIM:614840", "OMIM:614841", "OMIM:614842", "OMIM:614858", "OMIM:614880", "OMIM:615266", "OMIM:615269", "OMIM:615270"; "Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Normosmic idiopathic hypogonadotropic hypogonadism", "nIHH"; rdfs:label "Normosmic congenital hypogonadotropic hypogonadism", "Normosmic congenital hypogonadotropic hypogonadism"@en; "ORPHA:432" . _:fd61d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24274; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24274 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:fd63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:fd66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146110"; "BTNT (broader term maps to a narrower term)"@en . _:fd68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147950"; "NTBT (narrower term maps to a broader term)"@en . _:fd6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:244200"; "BTNT (broader term maps to a narrower term)"@en . _:fd6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308700"; "BTNT (broader term maps to a narrower term)"@en . _:fd6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610628"; "BTNT (broader term maps to a narrower term)"@en . _:fd70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612370"; "BTNT (broader term maps to a narrower term)"@en . _:fd71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612702"; "BTNT (broader term maps to a narrower term)"@en . _:fd72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614837"; "BTNT (broader term maps to a narrower term)"@en . _:fd73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614838"; "BTNT (broader term maps to a narrower term)"@en . _:fd7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614839"; "BTNT (broader term maps to a narrower term)"@en . _:fd81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614840"; "BTNT (broader term maps to a narrower term)"@en . _:fd83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614841"; "BTNT (broader term maps to a narrower term)"@en . _:fd84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614842"; "BTNT (broader term maps to a narrower term)"@en . _:fd85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614858"; "BTNT (broader term maps to a narrower term)"@en . _:fd86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614880"; "BTNT (broader term maps to a narrower term)"@en . _:fd87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615266"; "BTNT (broader term maps to a narrower term)"@en . _:fd88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615269"; "BTNT (broader term maps to a narrower term)"@en . _:fd89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615270"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic precocious puberty"@en; "ORPHA:435554" . a owl:Class; rdfs:subClassOf ; "ALPS due to CTLA4 haploinsuffiency"@en, "CHAI"@en, "CTLA-4 haploinsufficiency with autoimmune infiltration disease"@en; "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy."@en; "orphanet"@en; "ICD-10:D47.9", "OMIM:616100"; rdfs:label "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"@en; "ORPHA:436159" . _:fd8ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24295; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24295 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.9"; "Attributed"@en . _:fd8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.9"; "NTBT (narrower term maps to a broader term)"@en . _:fd8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:Q87.1", "OMIM:616541", "OMIM:617253"; rdfs:label "Microcephalic primordial dwarfism-insulin resistance syndrome"@en; "ORPHA:436182" . _:fd8fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24299; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24299 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:fd91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:fd93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616541"; "BTNT (broader term maps to a narrower term)"@en . _:fd94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617253"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf , , , ; "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.", "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D."; , ; "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium."@en; "orphanet", "orphanet"@en; "ICD-10:E83.3", "ICD10:E83.3", "MESH:D063730", "MedDRA:10060873", "NCIT:C131449", "UMLS:C1704375", "UMLS:C2363065", "UMLS:C3536983"; "Phosphopenic rickets", "hypophosphatemic rickets"; "acquired Vitamin D resistant rickets", "acquired Vitamin D-resistant rickets"; "Ricket, hypophosphatemic", "Vitamin D-resistant rickets", "hypophosphatemia, Vitamin D-resistant rickets", "hypophosphatemic Ricket", "hypophosphatemic Vitamin D resistant rickets", "hypophosphatemic Vitamin D-resistant rickets", "rickets, Vitamin D resistant", "rickets, Vitamin D-resistant"; "Orphanet:437"; rdfs:label "Hypophosphatemic rickets", "Hypophosphatemic rickets"@en; "ORPHA:437" . _:fd9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D."; "NCIT:C131449" . _:fd9fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24305; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24305 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:fda2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "NTBT (narrower term maps to a broader term)"@en . _:fda3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D063730"; "MONDO:equivalentTo" . _:fda4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060873"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fda6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131449"; "MONDO:equivalentTo" . _:fda7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1704375"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fda8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2363065"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fdabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3536983"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fdacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phosphopenic rickets"; "NCIT:C131449" . _:fdaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets"; "MESH:D063730", "NCIT:C131449" . _:fdafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets"; rdfs:comment "preferred label from MONDO" . _:fdb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acquired Vitamin D resistant rickets"; "MESH:D063730" . _:fdb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acquired Vitamin D-resistant rickets"; "MESH:D063730" . _:fdb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ricket, hypophosphatemic"; "MESH:D063730" . _:fdb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D-resistant rickets"; "MESH:D063730"; . _:fdbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemia, Vitamin D-resistant rickets"; "MESH:D063730" . _:fdbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic Ricket"; "MESH:D063730" . _:fdbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic Vitamin D resistant rickets"; "MESH:D063730" . _:fdbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic Vitamin D-resistant rickets"; "MESH:D063730" . _:fdc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rickets, Vitamin D resistant"; "MESH:D063730"; . _:fdc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rickets, Vitamin D-resistant"; "MESH:D063730"; . a owl:Class; rdfs:subClassOf ; "A rare, genetic, lypmhoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variabe autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells."@en; "orphanet"@en; "ICD-10:M35.8", "OMIM:615952"; rdfs:label "STAT3-related early-onset multisystem autoimmune disease"@en; "ORPHA:438159" . _:fdcdd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24327; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24327 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M35.8"; "Attributed"@en . _:fdd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M35.8"; "NTBT (narrower term maps to a broader term)"@en . _:fdd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615952"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Autosomal recessive severe congenital neutropenia"@en; "ORPHA:439849" . a owl:Class; rdfs:subClassOf , , , , , ; "Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)."; , , , , ; "NALD"@en; "Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)."@en; "orphanet", "orphanet"@en; "GARD:0000559", "ICD-10:E71.3", "ICD10:E71.3", "ICD10:E71.511", "MONDO:0018598", "MSH:D018901", "MeSH:D018901", "NCIT:C99251", "OMIM:202370", "OMIM:266510", "OMIM:601539", "OMIM:614863", "OMIM:614867", "OMIM:614871", "OMIM:614873", "OMIM:614877", "OMIM:614885", "OMIM:614920", "OMIM:617370", "SCTID:238061001", "UMLS:C0282525"; "NALD", "neonatal adrenoleukodystrophy"; "adrenoleukodystrophy autosomal neonatal form"; "Orphanet:44"; , ; rdfs:label "Neonatal adrenoleukodystrophy", "Neonatal adrenoleukodystrophy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy"^^xsd:anyURI; "ORPHA:44" . _:fdd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)."; "Orphanet:44" . _:fdd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000559"; "MONDO:equivalentTo" . _:fdd7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24333; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24333 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "Attributed"@en . _:fdd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "NTBT (narrower term maps to a broader term)"@en . _:fdd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:44/attributed", "ORDO:44/ntbt", "Orphanet:44" . _:fddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.511"; "MONDO:equivalentTo" . _:fddcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018901"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fdddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99251"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:fdded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202370"; "BTNT (broader term maps to a narrower term)"@en . _:fddfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:266510"; "BTNT (broader term maps to a narrower term)"@en . _:fde1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601539"; "NTBT (narrower term maps to a broader term)"@en . _:fde3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614863"; "BTNT (broader term maps to a narrower term)"@en . _:fde7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614867"; "BTNT (broader term maps to a narrower term)"@en . _:fde8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614871"; "BTNT (broader term maps to a narrower term)"@en . _:fde9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614873"; "BTNT (broader term maps to a narrower term)"@en . _:fdead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614877"; "BTNT (broader term maps to a narrower term)"@en . _:fdebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614885"; "BTNT (broader term maps to a narrower term)"@en . _:fdecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614920"; "BTNT (broader term maps to a narrower term)"@en . _:fdedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617370"; "NTBT (narrower term maps to a broader term)"@en . _:fdeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617370"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:fdefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238061001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.38" . _:fdf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0282525"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fdf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0282525"; "MONDO:equivalentTo", "NCIT:C99251", "ORDO:44/e", "Orphanet:44" . _:fdf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NALD"; "Orphanet:44" . _:fdf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neonatal adrenoleukodystrophy"; rdfs:comment "preferred label from MONDO" . _:fdf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenoleukodystrophy autosomal neonatal form"; "GARD:0000559" . _:fdf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000559" . _:fdfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:44" . _:fdfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy"^^xsd:anyURI; "GARD:0000559" . a owl:Class; rdfs:subClassOf , ; "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce."@en; "orphanet"@en; "true"; "ICD-10:Q54.0", "ICD-10:Q54.1", "ICD-10:Q54.2", "ICD-10:Q54.3", "ICD-10:Q54.4", "ICD-10:Q54.8", "ICD-10:Q54.9", "ICD10:Q54.0", "ICD10:Q54.1", "ICD10:Q54.2", "ICD10:Q54.3", "ICD10:Q54.4", "ICD10:Q54.8", "ICD10:Q54.9", "OMIM:146450", "OMIM:300633", "OMIM:300758", "OMIM:300856"; rdfs:label "Familial hypospadias", "Familial hypospadias"@en; "ORPHA:440" . _:fe00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.0"; "Attributed"@en . _:fe01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.0"; "NTBT (narrower term maps to a broader term)"@en . _:fe03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.1"; "Attributed"@en . _:fe05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.1"; "NTBT (narrower term maps to a broader term)"@en . _:fe06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.2"; "Attributed"@en . _:fe07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.2"; "NTBT (narrower term maps to a broader term)"@en . _:fe09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.3"; "Attributed"@en . _:fe0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.3"; "NTBT (narrower term maps to a broader term)"@en . _:fe0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.4"; "Attributed"@en . _:fe0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.4"; "NTBT (narrower term maps to a broader term)"@en . _:fe0fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24371; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24371 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.8"; "Attributed"@en . _:fe11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.8"; "NTBT (narrower term maps to a broader term)"@en . _:fe12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.9"; "Attributed"@en . _:fe13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q54.9"; "NTBT (narrower term maps to a broader term)"@en . _:fe16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146450"; "BTNT (broader term maps to a narrower term)"@en . _:fe18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300633"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fe19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300758"; "BTNT (broader term maps to a narrower term)"@en . _:fe1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300856"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf , , ; "Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth."; , , , , , , , ; , , , , , , , , ; "Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth."@en; "orphanet", "orphanet"@en; "DOID:0050328", "GARD:0001487", "ICD-10:E00.0", "ICD-10:E00.1", "ICD-10:E00.2", "ICD-10:E00.9", "ICD-10:E03.0", "ICD-10:E03.1", "ICD10:E00.0", "ICD10:E00.1", "ICD10:E00.2", "ICD10:E00.9", "ICD10:E03.0", "ICD10:E03.1", "ICD9:243", "ICD9:269.3", "ICD9:759.89", "MESH:D003409", "MONDO:0018612", "MSH:D003409", "MeSH:D003409", "MedDRA:10010510", "NCIT:C26734", "SCTID:190268003", "SCTID:217710005", "UMLS:C0010308"; "congenital hypothyroidism", "congenital iodine deficiency syndrome"; "congenital goiter", "congenital hypothyroidism not due to iodine deficiency", "cretinism", "fetal iodine deficiency syndrome", "infantile hypothyroidism"; "Orphanet:442"; ; rdfs:label "Congenital hypothyroidism", "Congenital hypothyroidism"@en; "ORPHA:442" . _:fe1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth."; "Orphanet:442" . _:fe26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050328"; "MONDO:equivalentTo" . _:fe27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001487"; "MONDO:equivalentTo", "Orphanet-shared" . _:fe28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E00.0"; "BTNT (broader term maps to a narrower term)"@en . _:fe29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E00.0"; "Specific code (The term has its own code in the ICD10)"@en . _:fe2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E00.1"; "BTNT (broader term maps to a narrower term)"@en . _:fe2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E00.1"; "Specific code (The term has its own code in the ICD10)"@en . _:fe2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E00.2"; "BTNT (broader term maps to a narrower term)"@en . _:fe2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E00.2"; "Specific code (The term has its own code in the ICD10)"@en . _:fe2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E00.9"; "BTNT (broader term maps to a narrower term)"@en . _:fe2fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24390; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24390 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E00.9"; "Specific code (The term has its own code in the ICD10)"@en . _:fe30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.0"; "BTNT (broader term maps to a narrower term)"@en . _:fe31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.0"; "Specific code (The term has its own code in the ICD10)"@en . _:fe32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.1"; "BTNT (broader term maps to a narrower term)"@en . _:fe33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.1"; "Specific code (The term has its own code in the ICD10)"@en . _:fe35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E00.0"; "ORDO:442/btnt", "ORDO:442/specific", "Orphanet:442" . _:fe38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E00.1"; "DOID:0050328", "ORDO:442/btnt", "ORDO:442/specific", "Orphanet:442" . _:fe39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E00.2"; "ORDO:442/btnt", "ORDO:442/specific", "Orphanet:442" . _:fe3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E00.9"; "ORDO:442/btnt", "ORDO:442/specific", "Orphanet:442" . _:fe3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E03.0"; "ORDO:442/btnt", "ORDO:442/specific", "Orphanet:442" . _:fe3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E03.1"; "DOID:0050328", "ORDO:442/btnt", "ORDO:442/specific", "Orphanet:442" . _:fe3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:243"; "DOID:0050328", "linkedlifedata" . _:fe41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:269.3"; "linkedlifedata" . _:fe43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "linkedlifedata" . _:fe44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D003409"; "DOID:0050328", "MONDO:equivalentTo", "ORDO:442/e", "Orphanet:442" . _:fe73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D003409"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fe75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010510"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fe76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010510"; "ORDO:442/e", "Orphanet:442" . _:fe77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26734"; "DOID:0050328", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:fe79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:190268003"; "DOID:0050328", "MONDO:equivalentTo" . _:fe7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:217710005"; "MONDO:equivalentTo" . _:fe7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010308"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fe7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010308"; "DOID:0050328", "MONDO:equivalentTo", "NCIT:C26734", "ORDO:442/e", "Orphanet:442" . _:fe80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hypothyroidism"; "MONDO:patterns/congenital" . _:fe82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hypothyroidism"; rdfs:comment "preferred label from MONDO" . _:fe83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cretinism"; "CSP2005:2928-6883", "DOID:0050328"; . _:fe84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:442" . a owl:Class; rdfs:subClassOf ; rdfs:label "Hyperinsulinemic hypoglycaemia"@en; "ORPHA:443095" . a owl:Class; rdfs:subClassOf ; rdfs:label "ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor"@en; "ORPHA:443287" . a owl:Class; rdfs:subClassOf ; "CID due to LRBA deficiency"@en; "A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia."@en; "orphanet"@en; "ICD-10:D81.8", "OMIM:614700"; rdfs:label "Combined immunodeficiency due to LRBA deficiency"@en; "ORPHA:445018" . _:fe85d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24418; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24418 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:fe86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:fe87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events."; , , , , , , , ; , , , , , , , ; ; "Marchiafava-Micheli disease"@en, "PNH"@en; "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events."@en; "orphanet"@en; "DOID:0060284", "GARD:0007337", "HGNC:8957", "HP:0004818", "ICD-10:D59.5", "ICD10:D59.1", "ICD10:D59.5", "ICD10:D59.6", "MONDO:0018641", "MSH:D006457", "MeSH:D006457", "MedDRA:10034042", "NCIT:C61233", "OMIM:300818", "OMIM:615399", "OMIMPS:300818", "SCTID:1963002", "UMLS:C0019050", "UMLS:C0024790"; "Marchiafava-Micheli disease", "PNH", "paroxysmal hemoglobinuria", "paroxysmal nocturnal hemoglobinuria"; "Orphanet:447"; , ; rdfs:label "Paroxysmal nocturnal hemoglobinuria", "Paroxysmal nocturnal hemoglobinuria"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria"^^xsd:anyURI; "ORPHA:447" . _:fe90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events."; "Orphanet:447" . _:fe91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:447", "https://github.com/monarch-initiative/mondo/issues/134" . _:fe93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060284"; "MONDO:equivalentTo" . _:fe96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007337"; "MONDO:equivalentTo" . _:fe97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGNC:8957"; "GARD:0007337" . _:fe99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0004818"; "DOID:0060284", "MONDO:otherHierarchy" . _:fe9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.5"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fe9dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24429; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24429 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.5"; "Specific code (The term has its own code in the ICD10)"@en . _:fea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D59.1"; "DOID:0060284" . _:fea3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D59.5"; "DOID:0060284", "ORDO:447/e", "ORDO:447/specific", "Orphanet:447" . _:fea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D59.6"; "DOID:0060284" . _:fea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006457"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034042"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:feabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034042"; "ORDO:447/e", "Orphanet:447" . _:feadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61233"; "DOID:0060284", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:feaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300818"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:feafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615399"; "BTNT (broader term maps to a narrower term)"@en . _:feb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:300818"; "MONDO:cjm", "MONDO:equivalentTo" . _:feb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:1963002"; "DOID:0060284", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:feb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019050"; "DOID:0060284", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:feb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024790"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:feb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024790"; "DOID:0060284", "MONDO:equivalentTo", "NCIT:C61233", "ORDO:447/e", "Orphanet:447" . _:febdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marchiafava-Micheli disease"; "Orphanet:447" . _:febfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNH"; "Orphanet:447" . _:fec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "paroxysmal hemoglobinuria"; "NCIT:C61233" . _:fec2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "paroxysmal nocturnal hemoglobinuria"; rdfs:comment "preferred label from MONDO" . _:fec3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007337" . _:fec4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:447" . _:fec8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria"^^xsd:anyURI; "GARD:0007337" . a owl:Class; rdfs:subClassOf ; "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency."; , , , , ; ; "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency."@en; "orphanet"@en; "GARD:0010418", "ICD10:D66", "ICD10:D67", "MONDO:0018660", "MedDRA:10061992", "NCIT:C3093", "SCTID:90935002", "UMLS:C0684275"; "hemophilia"; "Orphanet:448"; ; rdfs:label "Hemophilia", "Hemophilia"@en; "ORPHA:448" . _:fecbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency."; "Orphanet:448" . _:fed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:448" . _:fed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010418"; "MONDO:equivalentTo", "Orphanet-shared" . _:fed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061992"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061992"; "ORDO:448/e", "Orphanet:448" . _:fed5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3093"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.59/1.32" . _:fed8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:90935002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.83/0.64/0.11" . _:fed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0684275"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fedad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0684275"; "MONDO:equivalentTo", "NCIT:C3093", "ORDO:448/e", "Orphanet:448" . _:fedbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia"; rdfs:comment "preferred label from MONDO" . _:feddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:448" . a owl:Class; rdfs:subClassOf , , ; "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1 (see these terms)."; ; , , , , , , , , ; "GIST"@en, "Gastrointestinal stromal sarcoma"@en; "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1."@en; "orphanet"@en; "DOID:9253", "GARD:0008598", "ICD-10:C26.9", "ICD10:C26.9", "ICDO:8936/1", "MESH:D046152", "MONDO:0011719", "MSH:D046152", "MeSH:D046152", "MedDRA:10051066", "NCIT:C3868", "OMIM:606764", "ONCOTREE:GIST", "SCTID:420120006", "UMLS:C0238198", "UMLS:C3179349"; "GIST", "Gastrointestinal stromal sarcoma", "gant", "gastrointestinal stromal neoplasm", "gastrointestinal stromal sarcoma", "gastrointestinal stromal tumor", "gastrointestinal stromal tumor (gist)", "gist", "stromal tumor of gastrointestinal tract"; "gastrointestinal stromal tumor; gist", "gastrointestinal stromal tumors"; "Orphanet:44890"; ; rdfs:label "Gastrointestinal stromal tumor", "Gastrointestinal stromal tumor"@en; "ORPHA:44890" . _:fee8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1 (see these terms)."; "Orphanet:44890" . _:fee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9253"; "MONDO:equivalentTo" . _:feead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008598"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:feebd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24466; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24466 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C26.9"; "Attributed"@en . _:feecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C26.9"; "NTBT (narrower term maps to a broader term)"@en . _:feedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C26.9"; "ORDO:44890/attributed", "ORDO:44890/ntbt", "Orphanet:44890" . _:feeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8936/1"; "NCIT:C3868" . _:feefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D046152"; "DOID:9253", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:44890/e", "Orphanet:44890" . _:fef0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D046152"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fef1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051066"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fef2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051066"; "ORDO:44890/e", "Orphanet:44890" . _:fef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3868"; "DOID:9253", "MONDO:equivalentTo" . _:fef4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606764"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606764"; "DOID:9253", "MONDO:equivalentTo", "ORDO:44890/e", "Orphanet:44890" . _:fef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:GIST"; "MONDO:equivalentTo" . _:fef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:420120006"; "DOID:9253", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/7.15" . _:fef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238198"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238198"; "DOID:9253", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3868", "OMIM:606764", "ORDO:44890/e", "Orphanet:44890" . _:fefed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3179349"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:feffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3179349"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:44890" . _:ff01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gant"; "DOID:9253", "NCIT:C27940" . _:ff02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal stromal neoplasm"; "NCIT:C3868" . _:ff03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal stromal sarcoma"; "Orphanet:44890" . _:ff04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal stromal tumor"; "MONDO:Lexical", "OMIM:606764" . _:ff05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal stromal tumor"; rdfs:comment "preferred label from MONDO" . _:ff06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal stromal tumor (gist)"; "NCIT:C3868" . _:ff07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gist"; "DOID:9253", "MONDO:Lexical", "OMIM:606764", "Orphanet:44890" . _:ff0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "stromal tumor of gastrointestinal tract"; "DOID:9253", "NCIT:C3868" . _:ff0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal stromal tumor; gist"; "OMIM:606764" . _:ff0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastrointestinal stromal tumors"; "GARD:0008598" . _:ff10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:44890" . a owl:Class; rdfs:subClassOf ; "Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5 % of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy."@en; "orphanet"@en; "ICD-10:C22.2", "MeSH:D018197", "MedDRA:10062001", "OMIM:114550", "UMLS:C0206624"; rdfs:label "Hepatoblastoma"@en; "ORPHA:449" . _:ff16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C22.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018197"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062001"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:114550"; "NTBT (narrower term maps to a broader term)"@en . _:ff1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206624"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue."; , , , , ; "AMP deaminase deficiency"@en, "Myoadenylate deaminase deficiency"@en; "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue."@en; "orphanet"@en; "ICD-10:G71.3", "ICD10:G71.3", "ICD9:277.2", "MESH:C538234", "MONDO:0013028", "MSH:C538234", "MeSH:C538234", "OMIM:612874", "OMIM:615511", "SCTID:9105005", "UMLS:C0268123", "UMLS:C2931781"; "AMP deaminase deficiency", "Myoadenylate deaminase deficiency", "adenosine monophosphate deaminase deficiency", "myoadenylate deaminase deficiency"; "Orphanet:45"; ; rdfs:label "Adenosine monophosphate deaminase deficiency", "Adenosine monophosphate deaminase deficiency"@en; "ORPHA:45" . _:ff25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue."; "Orphanet:45" . _:ff2ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24501; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24501 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.3"; "Attributed"@en . _:ff2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.3"; "NTBT (narrower term maps to a broader term)"@en . _:ff2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.3"; "ORDO:45/attributed", "ORDO:45/ntbt", "Orphanet:45" . _:ff30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.2"; "MONDO:relatedTo", "i2s" . _:ff32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538234"; "MONDO:equivalentTo", "ORDO:45/e", "Orphanet:45" . _:ff38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538234"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612874"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615511"; "BTNT (broader term maps to a narrower term)"@en . _:ff3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:9105005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.47/0.08" . _:ff40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268123"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931781"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMP deaminase deficiency"; "Orphanet:45" . _:ff44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenosine monophosphate deaminase deficiency"; rdfs:comment "preferred label from MONDO" . _:ff45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myoadenylate deaminase deficiency"; "Orphanet:45" . _:ff47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:45" . a owl:Class; rdfs:subClassOf , , ; "Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes.", "Miyoshi myopathy (MM) is a distal myopathy (see this term), characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes."; , , , ; "Miyoshi myopathy (MM) is a distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes."@en; "orphanet", "orphanet"@en; "DOID:0070198", "GARD:0009676", "ICD-10:G71.0", "ICD10:G71.0", "MESH:C537480", "MONDO:0009685", "MSH:C537480", "MeSH:C537480", "NCIT:C118846", "OMIM:254130", "OMIM:613318", "OMIMPS:254130", "ORDO:45448", "UMLS:C1850808"; "Miyoshi muscular dystrophy", "Miyoshi muscular dystrophy type 1", "Miyoshi myopathy"; "MM", "MMD1", "Miyoshi distal myopathy", "Miyoshi muscular dystrophy 1", "muscular dystrophy, distal, late onset, autosomal recessive"; "Orphanet:45448"; , , ; rdfs:comment "Editor note: consider splitting out type 1"; rdfs:label "Miyoshi myopathy", "Miyoshi myopathy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy"^^xsd:anyURI; "ORPHA:45448" . _:ff4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Miyoshi myopathy (MM) is a distal myopathy (see this term), characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes."; "Orphanet:45448" . _:ff4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070198"; "MONDO:equivalentTo" . _:ff50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009676"; "DOID:0070198", "MONDO:equivalentTo" . _:ff54d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24520; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24520 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Attributed"@en . _:ff56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:ff57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:45448/attributed", "ORDO:45448/ntbt", "Orphanet:45448" . _:ff58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537480"; "DOID:0070198", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:45448/e", "Orphanet:45448" . _:ff59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537480"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C118846"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/6.98" . _:ff5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:254130"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613318"; "BTNT (broader term maps to a narrower term)"@en . _:ff5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:254130"; "DOID:0070198", "MONDO:cjm", "MONDO:equivalentTo" . _:ff5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORDO:45448"; "DOID:0070198" . _:ff61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850808"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Miyoshi muscular dystrophy"; "DOID:0070198" . _:ff63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Miyoshi muscular dystrophy type 1"; "MONDORULE:1", "OMIM:254130" . _:ff64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Miyoshi myopathy"; rdfs:comment "preferred label from MONDO" . _:ff65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MM"; "GARD:0009676" . _:ff66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MMD1"; "MONDO:Lexical", "OMIM:254130" . _:ff67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Miyoshi distal myopathy"; "GARD:0009676" . _:ff68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Miyoshi muscular dystrophy 1"; "MONDO:Lexical", "OMIM:254130" . _:ff69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, distal, late onset, autosomal recessive"; "GARD:0009676" . _:ff8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009676" . _:ff8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:45448" . _:ff8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy"^^xsd:anyURI; "GARD:0009676" . a owl:Class; rdfs:subClassOf ; "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma."; , , , , , , , ; "HI"@en, "Ichthyosis congenita, Harlequin type"@en, "Ichthyosis fetalis, Harlequin type"@en; "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma."@en; "orphanet", "orphanet"@en; "DOID:0060713", "GARD:0006568", "ICD-10:Q80.4", "ICD10:Q80.4", "MONDO:0009443", "MedDRA:10019163", "NCIT:C98934", "OMIM:242500", "SCTID:205548006", "UMLS:C0239849", "UMLS:C0598226"; "ARCI4B", "HI", "Ichthyosis congenita, harlequin type", "Ichthyosis fetalis, Harlequin type", "autosomal recessive congenital ichthyosis 4B", "autosomal recessive congenital ichthyosis type 4B", "harlequin ichthyosis", "harlequin type ichthyosis congenita", "harlequin type ichthyosis fetalis", "hi", "ichthyosis congenita, Harlequin type", "ichthyosis fetalis, Harlequin type", "ichthyosis, congenital, autosomal recessive type 4B"; "'Harlequin fetus'", "Harlequin fetus", "ichthyosis congenita, Harlequin fetus type", "ichthyosis, congenital, autosomal recessive 4B", "ichthyosis, congenital, autosomal recessive 4B; ARCI4B"; "Orphanet:457"; ; rdfs:label "Harlequin ichthyosis", "Harlequin ichthyosis"@en; "ORPHA:457" . _:ff98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma."; "Orphanet:457" . _:ff9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060713"; "MONDO:equivalentTo" . _:ff9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006568"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:ff9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ff9ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24547; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24547 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.4"; "Specific code (The term has its own code in the ICD10)"@en . _:ffa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q80.4"; "DOID:0060713", "ORDO:457/e", "ORDO:457/specific", "Orphanet:457" . _:ffa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019163"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ffa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019163"; "ORDO:457/e", "Orphanet:457" . _:ffa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98934"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:ffa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ffaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242500"; "DOID:0060713", "MONDO:equivalentTo", "ORDO:457/e", "Orphanet:457" . _:ffadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:205548006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.77/0.13" . _:ffafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0239849"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ffb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0239849"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C98934", "OMIM:242500", "ORDO:457/e", "Orphanet:457" . _:ffb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0598226"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ffb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARCI4B"; "DOID:0060713", "MONDO:Lexical", "OMIM:242500" . _:ffb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive congenital ichthyosis 4B"; rdfs:comment "preferred label from MONDO" . _:ffb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive congenital ichthyosis type 4B"; "DOID:0060713", "MONDORULE:4" . _:ffb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "harlequin ichthyosis"; "DOID:0060713" . _:ffb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "harlequin type ichthyosis congenita"; "DOID:0060713" . _:ffb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "harlequin type ichthyosis fetalis"; "DOID:0060713" . _:ffb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hi"; "Orphanet:457" . _:ffb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis congenita, Harlequin type"; "Orphanet:457" . _:ffbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis fetalis, Harlequin type"; "Orphanet:457" . _:ffbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, congenital, autosomal recessive type 4B"; "MONDORULE:4", "OMIM:242500" . _:ffbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "'Harlequin fetus'"; "OMIM:242500" . _:ffbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Harlequin fetus"; "GARD:0006568" . _:ffbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis congenita, Harlequin fetus type"; "OMIM:242500" . _:ffbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, congenital, autosomal recessive 4B"; "MONDO:Lexical", "OMIM:242500" . _:ffc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, congenital, autosomal recessive 4B; ARCI4B"; "OMIM:242500" . _:ffc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:457" . a owl:Class; rdfs:subClassOf , , , , , ; rdfs:label "Pseudohypoparathyroidism with Albright hereditary osteodystrophy"@en; "ORPHA:457059" . a owl:Class; rdfs:subClassOf ; rdfs:label "Pseudohypoparathyroidism without Albright hereditary osteodystrophy"@en; "ORPHA:457062" . a owl:Class; rdfs:subClassOf ; "OMIM:617011"; rdfs:label "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"@en; "ORPHA:457359" . _:ffccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617011"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare vascular malformation of major vessels"@en; "ORPHA:458844" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin."; , , , , , ; , , , , , , , , ; "RXLI"@en, "Steroid sulfatase deficiency"@en, "X-linked ichthyosis"@en, "XLI"@en; "Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin."@en; "orphanet", "orphanet"@en; "DOID:1700", "GARD:0007904", "ICD-10:Q80.1", "ICD10:Q80.1", "MONDO:0010622", "MSH:D016114", "MeSH:D016114", "MedDRA:10048063", "NCIT:C84779", "OMIM:300001", "OMIM:308100", "SCTID:3944006", "UMLS:C0079588", "UMLS:C2717836", "UMLS:C2720163"; "RXLI", "Steroid sulfatase deficiency", "X-linked ichthyosis", "X-linked ichthyosis with steryl-sulphatase deficiency", "X-linked placental steryl-sulphatase deficiency", "X-linked recessive ichthyosis", "XLI", "ichthyosis (disease), X-linked", "recessive X-linked ichthyosis", "steroid sulfatase deficiency"; "SSDD", "STS deficiency", "X linked ichthyosis", "ichthyosis, X-linked", "ichthyosis, X-linked, complicated", "ichthyosis, X-linked; XLI", "placental steroid sulfatase deficiency", "steroid sulfatase deficiency disease"; "Orphanet:461"; ; rdfs:label "Recessive X-linked ichthyosis", "Recessive X-linked ichthyosis"@en; "ORPHA:461" . _:ffded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin."; "Orphanet:461" . _:ffe0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1700"; "MONDO:equivalentTo" . _:ffe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007904"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:ffe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ffe6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24580; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24580 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.1"; "Specific code (The term has its own code in the ICD10)"@en . _:ffead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q80.1"; "DOID:1700", "ORDO:461/e", "ORDO:461/specific", "Orphanet:461" . _:ffecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016114"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ffeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048063"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ffefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048063"; "ORDO:461/e", "Orphanet:461" . _:fff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84779"; "DOID:1700", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:fff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300001"; "BTNT (broader term maps to a narrower term)"@en . _:fff5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:fff6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308100"; "DOID:1700", "MONDO:equivalentTo", "ORDO:461/e", "Orphanet:461" . _:fff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:3944006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.45/0.05" . _:fffed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079588"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:ffffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079588"; "DOID:1700", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84779", "OMIM:308100", "ORDO:461/e", "Orphanet:461" . _:10001d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2717836"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10002d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2720163"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10003d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RXLI"; "Orphanet:461" . _:10005d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked ichthyosis"; "Orphanet:461" . _:10007d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked ichthyosis with steryl-sulphatase deficiency"; "DOID:1700" . _:1000ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked placental steryl-sulphatase deficiency"; "DOID:1700" . _:1000bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked recessive ichthyosis"; "DOID:1700" . _:1000cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XLI"; "MONDO:Lexical", "OMIM:308100", "Orphanet:461" . _:1000fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis (disease), X-linked"; "MONDO:patterns/x_linked" . _:10011d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "recessive X-linked ichthyosis"; rdfs:comment "preferred label from MONDO" . _:10013d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "steroid sulfatase deficiency"; "OMIM:308100", "Orphanet:461" . _:10017d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SSDD"; "GARD:0007904" . _:1001ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STS deficiency"; "OMIM:308100" . _:1001dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X linked ichthyosis"; "GARD:0007904" . _:1001ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, X-linked"; "MONDO:Lexical", "OMIM:308100" . _:1001fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, X-linked, complicated"; "OMIM:308100" . _:10020d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, X-linked; XLI"; "OMIM:308100" . _:10021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "placental steroid sulfatase deficiency"; "OMIM:308100" . _:10023d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "steroid sulfatase deficiency disease"; "OMIM:308100" . _:10024d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:461" . a owl:Class; rdfs:subClassOf ; "PCNSL"@en, "Primary CNS lymphoma"@en, "Primary brain lymphoma"@en; "Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes."@en; "orphanet"@en; "ICD-10:C83.3", "MedDRA:10036685", "UMLS:C0240803", "UMLS:C0280803"; rdfs:label "Primary central nervous system lymphoma"@en; "ORPHA:46135" . _:10029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C83.3"; "NTBT (narrower term maps to a broader term)"@en . _:1002bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036685"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1002cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0240803"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1002dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0280803"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "CAPS"@en, "Catastrophic APS"@en; "ICD-10:D68.6"; rdfs:label "Catastrophic antiphospholipid syndrome"@en; "ORPHA:464343" . _:10031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.6"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic hemoglobinopathy"@en; "ORPHA:466066" . a owl:Class; rdfs:subClassOf ; rdfs:label "Genetic otorhinolaryngologic disease"@en; "ORPHA:466084" . a owl:Class; rdfs:subClassOf ; "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis."; ; "Congenital combined pituitary hormone deficiency"@en, "Congenital hypopituitarism"@en; "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis."@en; "orphanet"@en; "ICD-10:E23.0", "ICD10:E23.0", "MONDO:0018762"; "Congenital combined pituitary hormone deficiency", "Congenital hypopituitarism", "congenital combined pituitary hormone deficiency", "congenital hypopituitarism", "non-acquired combined pituitary hormone deficiency"; "Orphanet:467"; ; rdfs:label "Non-acquired combined pituitary hormone deficiency", "Non-acquired combined pituitary hormone deficiency"@en; "ORPHA:467" . _:1003fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis."; "Orphanet:467" . _:10040d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24619; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24619 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Attributed"@en . _:10043d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:10045d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "MONDO:relatedTo", "ORDO:467/attributed", "ORDO:467/ntbt", "Orphanet:467" . _:10047d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital combined pituitary hormone deficiency"; "Orphanet:467" . _:10049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hypopituitarism"; "Orphanet:467" . _:1004ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-acquired combined pituitary hormone deficiency"; rdfs:comment "preferred label from MONDO" . _:1004dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:467" . a owl:Class; rdfs:subClassOf , ; "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy."; , , ; , , , , , , , ; "BTK-deficiency"@en, "Bruton type agammaglobulinemia"@en; "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy."@en; "orphanet", "orphanet"@en; "DOID:14179", "GARD:0001033", "ICD-10:D80.0", "ICD10:D80.0", "MESH:C537409", "MONDO:0010421", "MSH:C537409", "MeSH:C537409", "MedDRA:10060360", "NCIT:C3822", "OMIM:300310", "OMIM:300755", "SCTID:65880007", "UMLS:C0221026"; "BTK deficiency", "BTK-deficiency", "Bruton agammaglobulinemia tyrosine kinase deficiency", "Bruton type agammaglobulinemia", "Bruton's Sex-linked agammaglobulinemia", "Bruton's X-linked agammaglobulinemia", "Bruton's agammaglobulinaemia", "Bruton's type agammaglobulinemia", "Bruton-type agammaglobulinemia", "X-linked agammaglobulinemia"; "Bruton's agammaglobulinemia", "XLA", "agammaglobulinemia, BTK", "agammaglobulinemia, Bruton tyrosine kinase", "agammaglobulinemia, X-linked", "agammaglobulinemia, X-linked, type 1", "agammaglobulinemia, X-linked; XLA", "hypogammaglobulinemia, X-linked", "immunodeficiency 1"; "Orphanet:47"; ; rdfs:label "X-linked agammaglobulinemia", "X-linked agammaglobulinemia"@en; "ORPHA:47" . _:10060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy."; "Orphanet:47" . _:10061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14179"; "MONDO:equivalentTo" . _:10062d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001033"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:10063d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24630; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24630 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10064d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D80.0"; "NTBT (narrower term maps to a broader term)"@en . _:10065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80.0"; "ORDO:47/inclusion", "ORDO:47/ntbt", "Orphanet:47" . _:10069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537409"; "DOID:14179", "MONDO:equivalentTo", "ORDO:47/e", "Orphanet:47" . _:1006bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537409"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1006cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060360"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1006dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060360"; "ORDO:47/e", "Orphanet:47" . _:1006ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3822"; "DOID:14179", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:1006fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300310"; "BTNT (broader term maps to a narrower term)"@en . _:10071d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300755"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300755"; "DOID:14179", "MONDO:equivalentTo", "ORDO:47/e", "Orphanet:47" . _:10074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:65880007"; "DOID:14179", "MONDO:equivalentTo" . _:10077d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221026"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10079d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221026"; "DOID:14179", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3822", "OMIM:300755", "ORDO:47/e", "Orphanet:47" . _:1007cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BTK deficiency"; "DOID:14179" . _:10080d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BTK-deficiency"; "Orphanet:47" . _:10082d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton agammaglobulinemia tyrosine kinase deficiency"; "DOID:14179" . _:10083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton type agammaglobulinemia"; "Orphanet:47" . _:10085d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton's Sex-linked agammaglobulinemia"; "DOID:14179", "NCIT:C3822" . _:10087d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton's X-linked agammaglobulinemia"; "NCIT:C3822" . _:10088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton's agammaglobulinaemia"; "DOID:14179" . _:10089d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton's type agammaglobulinemia"; "DOID:14179", "MTHICD9_2006:279.04" . _:1008ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton-type agammaglobulinemia"; "OMIM:300755" . _:1008cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton-type agammaglobulinemia"; rdfs:comment "preferred label from MONDO" . _:1008ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked agammaglobulinemia"; "NCIT:C3822" . _:10091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bruton's agammaglobulinemia"; "GARD:0001033" . _:10092d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XLA"; "MONDO:Lexical", "OMIM:300755" . _:10094d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agammaglobulinemia, BTK"; "GARD:0001033" . _:10095d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agammaglobulinemia, Bruton tyrosine kinase"; "GARD:0001033" . _:10096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agammaglobulinemia, X-linked"; "MONDO:Lexical", "OMIM:300755" . _:10097d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agammaglobulinemia, X-linked, type 1"; "OMIM:300755" . _:100a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agammaglobulinemia, X-linked; XLA"; "OMIM:300755" . _:100a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogammaglobulinemia, X-linked"; "OMIM:300755" . _:100a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 1"; "OMIM:300755" . _:100aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:47" . a owl:Class; rdfs:subClassOf , , ; "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism."; , , , ; , , , , , , , ; "Hyperdibasic aminoaciduria type 2"@en, "LPI"@en; "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism."@en; "orphanet", "orphanet"@en; "DOID:0060439", "GARD:0001853", "GARD:0003335", "ICD-10:E72.0", "ICD10:E72.0", "ICD9:270.8", "MESH:C562687", "MONDO:0009109", "MedDRA:10058300", "NCIT:C121563", "OMIM:222700", "SCTID:303852004", "UMLS:C0268647"; "Hyperdibasic aminoaciduria type 2", "LPI", "dibasic amino aciduria II", "hyperdibasic aminoaciduria", "hyperdibasic aminoaciduria type 2", "lysinuric protein intolerance"; "Dibasicamino aciduria II", "dibasic amino aciduria 2", "dibasic aminoaciduria 2", "lysinuric PROTEIN intolerance; LPI"; "Orphanet:470"; , ; rdfs:label "Lysinuric protein intolerance", "Lysinuric protein intolerance"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2"^^xsd:anyURI, "https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance"^^xsd:anyURI; "ORPHA:470" . _:100d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism."; "Orphanet:470" . _:100d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060439"; "MONDO:equivalentTo" . _:100d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001853"; "MONDO:equivalentTo" . _:100dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003335"; "MONDO:equivalentTo" . _:100ded a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24670; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24670 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "Attributed"@en . _:100e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "NTBT (narrower term maps to a broader term)"@en . _:100e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.0"; "ORDO:470/attributed", "ORDO:470/ntbt", "Orphanet:470" . _:100e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:100e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562687"; "DOID:0060439", "MONDO:equivalentTo", "MONDO:ontobio" . _:100ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:100ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058300"; "ORDO:470/e", "Orphanet:470" . _:100edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C121563"; "DOID:0060439", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.86/0.20" . _:100efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:222700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:100f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:222700"; "DOID:0060439", "MONDO:equivalentTo", "ORDO:470/e", "Orphanet:470" . _:100f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:303852004"; "DOID:0060439", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:100fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268647"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:100fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268647"; "DOID:0060439", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C121563", "OMIM:222700", "ORDO:470/e", "Orphanet:470" . _:10101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LPI"; "DOID:0060439", "MONDO:Lexical", "OMIM:222700", "Orphanet:470" . _:10108d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dibasic amino aciduria II"; "DOID:0060439" . _:1010ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperdibasic aminoaciduria"; "DOID:0060439" . _:1010bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperdibasic aminoaciduria type 2"; "Orphanet:470" . _:1010ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysinuric protein intolerance"; "MONDO:Lexical", "OMIM:222700" . _:1010fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysinuric protein intolerance"; rdfs:comment "preferred label from MONDO" . _:10110d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dibasicamino aciduria II"; "GARD:0003335" . _:10111d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dibasic amino aciduria 2"; "OMIM:222700" . _:10112d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dibasic aminoaciduria 2"; "GARD:0001853" . _:10113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysinuric PROTEIN intolerance; LPI"; "OMIM:222700" . _:10114d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003335" . _:10115d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:470" . _:10116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2"^^xsd:anyURI; "GARD:0001853" . _:10117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance"^^xsd:anyURI; "GARD:0003335" . a owl:Class; rdfs:subClassOf , , , ; "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis."; ; , , , ; "Renal tubular acidosis type 2"@en, "pRTA"@en; "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis."@en; "orphanet", "orphanet"@en; "ICD-10:N25.8", "ICD10:N25.8", "ICD9:588.89", "MONDO:0008369", "MedDRA:10037080", "OMIM:179830", "OMIM:604278", "SCTID:24790002", "UMLS:C0268435"; "Renal tubular acidosis type 2", "pRTA", "proximal renal tubular acidosis", "renal tubular acidosis type 2"; "RTA, proximal type", "RTA, rate type", "renal tubular acidosis 2", "renal tubular acidosis, proximal"; "Orphanet:47159"; ; rdfs:label "Proximal renal tubular acidosis", "Proximal renal tubular acidosis"@en; "ORPHA:47159" . _:10119d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis."; "Orphanet:47159" . _:1011dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24699; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24699 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.8"; "Attributed"@en . _:1011ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.8"; "NTBT (narrower term maps to a broader term)"@en . _:10120d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25.8"; "ORDO:47159/attributed", "ORDO:47159/ntbt", "Orphanet:47159" . _:10122d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.89"; "MONDO:relatedTo", "i2s" . _:10124d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037080"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10126d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037080"; "ORDO:47159/e", "Orphanet:47159" . _:10129d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:179830"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1012bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:179830"; "MONDO:equivalentTo", "ORDO:47159/e", "Orphanet:47159" . _:1012cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604278"; "BTNT (broader term maps to a narrower term)"@en . _:1012ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:24790002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:10130d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268435"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10132d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pRTA"; "Orphanet:47159" . _:10133d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proximal renal tubular acidosis"; rdfs:comment "preferred label from MONDO" . _:10134d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular acidosis type 2"; "Orphanet:47159" . _:10136d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RTA, proximal type"; "OMIM:179830" . _:10137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RTA, rate type"; "OMIM:179830" . _:10138d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular acidosis 2"; "OMIM:179830" . _:1013ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal tubular acidosis, proximal"; "OMIM:179830" . _:1013bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:47159" . a owl:Class; rdfs:subClassOf , , , , , ; "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes."; , , , , , , ; "Asphyxiating thoracic dystrophy of the newborn"@en, "JATD"@en, "Jeune asphyxiating thoracic dystrophy"@en; "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes."@en; "orphanet", "orphanet"@en; "DOID:0050592", "GARD:0003049", "ICD-10:Q77.2", "ICD10:Q77.2", "MESH:C537571", "MONDO:0018770", "MSH:C537571", "MeSH:C537571", "MedDRA:10057621", "NCIT:C84794", "OMIM:208500", "OMIM:611263", "OMIM:613091", "OMIM:613819", "OMIM:614376", "OMIM:615630", "OMIM:615633", "OMIM:616300", "OMIM:617088", "OMIM:617405", "OMIMPS:208500", "SCTID:75049004", "UMLS:C0265275"; "Asphyxiating thoracic dystrophy of the newborn", "JATD", "Jeune asphyxiating thoracic dystrophy", "Jeune syndrome", "asphyxiating thoracic dystrophy of the newborn", "short-rib thoracic dysplasia", "short-rib thoracic dysplasia with or without polydactyly", "thoracic pelvic phalangeal dystrophy"; "ATD", "Chondroectodermal dysplasia-like syndrome", "Jeune's syndrome", "asphyxiating thoracic dystrophy", "infantile thoracic dystrophy"; "Orphanet:474"; ; rdfs:label "Jeune syndrome", "Jeune syndrome"@en; "ORPHA:474" . _:10147d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes."; "Orphanet:474" . _:10149d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050592"; "MONDO:equivalentTo" . _:1014cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003049"; "MONDO:equivalentTo", "Orphanet-shared" . _:1014fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24722; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.2"; "NTBT (narrower term maps to a broader term)"@en . _:10157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q77.2"; "DOID:0050592", "ORDO:474/inclusion", "ORDO:474/ntbt", "Orphanet:474" . _:10158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537571"; "MONDO:equivalentTo", "ORDO:474/e", "Orphanet:474" . _:1015ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537571"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1015bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10057621"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1015dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10057621"; "ORDO:474/e", "Orphanet:474" . _:1015ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84794"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.74/0.99" . _:1015fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:208500"; "BTNT (broader term maps to a narrower term)"@en . _:10162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611263"; "BTNT (broader term maps to a narrower term)"@en . _:10164d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613091"; "BTNT (broader term maps to a narrower term)"@en . _:10166d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613819"; "BTNT (broader term maps to a narrower term)"@en . _:10168d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614376"; "BTNT (broader term maps to a narrower term)"@en . _:1016cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615630"; "BTNT (broader term maps to a narrower term)"@en . _:1016dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615633"; "BTNT (broader term maps to a narrower term)"@en . _:1016ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616300"; "BTNT (broader term maps to a narrower term)"@en . _:1016fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616300"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617088"; "BTNT (broader term maps to a narrower term)"@en . _:10171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617405"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:208500"; "DOID:0050592", "MONDO:equivalentTo" . _:10173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75049004"; "MONDO:equivalentTo" . _:10175d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265275"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10177d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265275"; "MONDO:equivalentTo", "NCIT:C84794", "ORDO:474/e", "Orphanet:474" . _:1017ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JATD"; "Orphanet:474" . _:1017bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jeune asphyxiating thoracic dystrophy"; "Orphanet:474" . _:1017cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jeune syndrome"; "DOID:0050592" . _:1017ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jeune syndrome"; rdfs:comment "preferred label from MONDO" . _:10181d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "asphyxiating thoracic dystrophy of the newborn"; "Orphanet:474" . _:10182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short-rib thoracic dysplasia"; "OMIMPS:208500" . _:10183d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short-rib thoracic dysplasia with or without polydactyly"; "DOID:0050592" . _:10184d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thoracic pelvic phalangeal dystrophy"; "DOID:0050592", "PMID:6636109" . _:10185d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATD"; "GARD:0003049" . _:10186d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chondroectodermal dysplasia-like syndrome"; "GARD:0003049" . _:10187d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jeune's syndrome"; "GARD:0003049" . _:10188d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "asphyxiating thoracic dystrophy"; "DOID:0050592" . _:10189d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile thoracic dystrophy"; "GARD:0003049" . _:1018ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:474" . a owl:Class; rdfs:subClassOf , , ; "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."; ; , , , ; "orphanet"; "DOID:0050777", "GARD:0006802", "ICD10:Q04.3", "MONDO:0018772", "NCIT:C74996", "OMIM:213300", "OMIM:610688", "OMIM:612291", "OMIM:614173", "OMIM:614175", "OMIM:614424", "OMIM:614464", "OMIM:614615", "OMIM:614970", "OMIM:615636", "OMIM:616490", "OMIM:616654", "OMIM:616781", "OMIM:616784", "OMIM:617120", "OMIM:617622", "OMIM:617757", "OMIM:617761", "OMIM:617767", "OMIMPS:213300", "SCTID:716997004"; "CPD IV", "Cerebelloparenchymal disorder IV", "Classic Joubert syndrome", "JBTS", "Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "Pure Joubert syndrome", "cerebelloparenchymal disorder IV", "classic Joubert syndrome", "pure Joubert syndrome"; "cerebellar vermis agenesis"; "Orphanet:475"; ; rdfs:label "Joubert syndrome" . _:10197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."; "Orphanet:475" . _:10198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050777"; "MONDO:equivalentTo" . _:1019ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006802"; "MONDO:equivalentTo", "Orphanet-shared" . _:1019dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "DOID:0050777", "ORDO:475/attributed", "ORDO:475/ntbt", "Orphanet:475" . _:101a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C74996"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.69/0.83" . _:101a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616490"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:101a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616781"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:101a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616784"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:101abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617120"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:101aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617622"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:101b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:213300"; "DOID:0050777", "MONDO:equivalentTo" . _:101bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716997004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.67/1.23" . _:101c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPD IV"; "Orphanet:475" . _:101c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JBTS"; "DOID:0050777" . _:101c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome"; rdfs:comment "preferred label from MONDO" . _:101c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert syndrome type A"; "Orphanet:475" . _:101c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Joubert-Boltshauser syndrome"; "Orphanet:475" . _:101cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebelloparenchymal disorder IV"; "Orphanet:475" . _:101ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic Joubert syndrome"; "Orphanet:475" . _:101cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pure Joubert syndrome"; "Orphanet:475" . _:101cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar vermis agenesis"; "GARD:0006802" . _:101d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:475" . a owl:Class; rdfs:subClassOf ; "CID due to TFRC deficiency"@en, "TFRC-related combined immunodeficiency"@en; "OMIM:616740"; rdfs:label "Combined immunodeficiency due to TFRC deficiency"@en; "ORPHA:476113" . _:101d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616740"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "IL21-related infantile IBD"@en; "OMIM:615767"; rdfs:label "IL21-related infantile inflammatory bowel disease"@en; "ORPHA:477661" . _:101d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615767"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Other genetic dermis disorder"@en; "ORPHA:477808" . a owl:Class; rdfs:subClassOf ; "Kosaki overgrowth syndrome"@en; "OMIM:616592"; rdfs:label "Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"@en; "ORPHA:477831" . _:101dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616592"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Autosomal recessive MSMD due to complete RORgamma receptor defiency"@en, "Autosomal recessive primary immunodeficiency due to RORC mutation"@en; "OMIM:616622"; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"@en; "ORPHA:477857" . _:101e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616622"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)."; ; , , , , , , ; "Congenital hypogonadotropic hypogonadism with anosmia"@en, "Olfacto-genital pathological sequence"@en; "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)."@en; "orphanet", "orphanet"@en; "DOID:3614", "GARD:0010771", "ICD-10:E23.0", "ICD10:E23.0", "ICD9:253.4", "MESH:D017436", "MONDO:0018800", "MSH:D017436", "MeSH:D017436", "MedDRA:10053142", "NCIT:C75479", "OMIM:147950", "OMIM:244200", "OMIM:308700", "OMIM:610628", "OMIM:612370", "OMIM:612702", "OMIM:614837", "OMIM:614838", "OMIM:614840", "OMIM:614858", "OMIM:614880", "OMIM:614897", "OMIM:615266", "OMIM:615267", "OMIM:615269", "OMIM:615270", "OMIM:615271", "OMIM:616030", "SCTID:93559003", "UMLS:C0162809"; "Congenital hypogonadotropic hypogonadism with anosmia", "Kallman syndrome", "Kallman's syndrome", "Kallmann syndrome", "Olfacto-genital pathological sequence", "congenital hypogonadotropic hypogonadism with anosmia", "familial hypogonadism with anosmia", "hypogonadism with anosmia", "hypogonadotropic hypogonadism with anosmia"; "Orphanet:478"; ; rdfs:label "Kallmann syndrome", "Kallmann syndrome"@en; "ORPHA:478" . _:101f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)."; "Orphanet:478" . _:101f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3614"; "MONDO:equivalentTo" . _:101f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010771"; "MONDO:equivalentTo" . _:101f5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24789; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24789 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:101f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:101fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "DOID:3614", "MONDO:relatedTo", "ORDO:478/inclusion", "ORDO:478/ntbt", "Orphanet:478" . _:101fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.4"; "MONDO:relatedTo", "i2s" . _:101ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017436"; "DOID:3614", "MONDO:equivalentTo", "ORDO:478/e", "Orphanet:478" . _:10202d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017436"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10204d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053142"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10205d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053142"; "ORDO:478/e", "Orphanet:478" . _:10206d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75479"; "DOID:3614", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:1020dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147950"; "NTBT (narrower term maps to a broader term)"@en . _:10213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:244200"; "BTNT (broader term maps to a narrower term)"@en . _:10215d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:308700"; "BTNT (broader term maps to a narrower term)"@en . _:10217d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610628"; "BTNT (broader term maps to a narrower term)"@en . _:10218d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612370"; "BTNT (broader term maps to a narrower term)"@en . _:10248d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612702"; "BTNT (broader term maps to a narrower term)"@en . _:10249d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614837"; "BTNT (broader term maps to a narrower term)"@en . _:1024ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614838"; "BTNT (broader term maps to a narrower term)"@en . _:1024bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614840"; "BTNT (broader term maps to a narrower term)"@en . _:1024cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614858"; "BTNT (broader term maps to a narrower term)"@en . _:1024dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614880"; "BTNT (broader term maps to a narrower term)"@en . _:1024ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614897"; "BTNT (broader term maps to a narrower term)"@en . _:1024fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615266"; "BTNT (broader term maps to a narrower term)"@en . _:10250d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615267"; "BTNT (broader term maps to a narrower term)"@en . _:10251d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615269"; "BTNT (broader term maps to a narrower term)"@en . _:10252d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615270"; "BTNT (broader term maps to a narrower term)"@en . _:10254d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615271"; "BTNT (broader term maps to a narrower term)"@en . _:10256d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616030"; "BTNT (broader term maps to a narrower term)"@en . _:10258d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:93559003"; "DOID:3614", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.75/1.75" . _:1025ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162809"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1025fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162809"; "DOID:3614", "MONDO:equivalentTo", "NCIT:C75479", "ORDO:478/e", "Orphanet:478" . _:10262d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kallman syndrome"; "DOID:3614" . _:10263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kallman's syndrome"; "DOID:3614" . _:10265d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kallmann syndrome"; rdfs:comment "preferred label from MONDO" . _:10268d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Olfacto-genital pathological sequence"; "Orphanet:478" . _:10269d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hypogonadotropic hypogonadism with anosmia"; "Orphanet:478" . _:1026ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypogonadism with anosmia"; "CSP2005:2586-8846", "DOID:3614" . _:1026bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadism with anosmia"; "DOID:3614" . _:1026dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypogonadotropic hypogonadism with anosmia"; "NCIT:C75479" . _:1026ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:478" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , ; "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block."; , ; , , , , , , , ; "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block."@en; "orphanet", "orphanet"@en; "COHD:81539", "DOID:12934", "GARD:0006817", "ICD-10:H49.8", "ICD10:H49.8", "ICD10:H49.81", "MESH:D007625", "MONDO:0010787", "MSH:D007625", "MeSH:D007625", "MedDRA:10048804", "NCIT:C84798", "OMIM:530000", "SCTID:25792000", "UMLS:C0022541"; "Kearns-Sayre syndrome"; "CPEO with myopathy", "CPEO with ragged red fibers", "CPEO with ragged-Red fibers", "KSS", "Kearns-Sayre syndrome; KSS", "chronic progressive external ophthalmoplegia with myopathy", "mitochondrial Cytopathy", "oculocraniosomatic syndrome", "ophthalmoplegia plus syndrome", "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy", "ophthalmoplegia, progressive external, with ragged red fibers", "ophthalmoplegia, progressive external, with ragged-Red fibers", "ophthalmoplegia-plus syndrome"; "Orphanet:480"; , ; rdfs:label "Kearns-Sayre syndrome", "Kearns-Sayre syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome"^^xsd:anyURI; "ORPHA:480" . _:10270d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block."; "Orphanet:480" . _:10273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:81539"; "MONDO:equivalentTo" . _:10277d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12934"; "MONDO:equivalentTo" . _:10278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006817"; "MONDO:equivalentTo" . _:1027cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24833; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24833 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H49.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10280d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H49.8"; "NTBT (narrower term maps to a broader term)"@en . _:10281d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H49.8"; "ORDO:480/inclusion", "ORDO:480/ntbt", "Orphanet:480" . _:10284d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H49.81"; "DOID:12934" . _:10286d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D007625"; "DOID:12934", "MONDO:equivalentTo", "ORDO:480/e", "Orphanet:480" . _:10288d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D007625"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048804"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1028ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048804"; "ORDO:480/e", "Orphanet:480" . _:1028bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84798"; "DOID:12934", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:1028cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:530000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1028dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:530000"; "DOID:12934", "MONDO:equivalentTo", "ORDO:480/e", "Orphanet:480" . _:10291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:25792000"; "DOID:12934", "MONDO:equivalentTo" . _:10292d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022541"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10293d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0022541"; "DOID:12934", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84798", "OMIM:530000", "ORDO:480/e", "Orphanet:480" . _:10297d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kearns-Sayre syndrome"; "MONDO:Lexical", "OMIM:530000" . _:1029ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kearns-Sayre syndrome"; rdfs:comment "preferred label from MONDO" . _:1029cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPEO with myopathy"; "OMIM:530000" . _:1029ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPEO with ragged red fibers"; "GARD:0006817" . _:102a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPEO with ragged-Red fibers"; "OMIM:530000" . _:102a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KSS"; "MONDO:Lexical", "OMIM:530000" . _:102a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kearns-Sayre syndrome; KSS"; "OMIM:530000" . _:102a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic progressive external ophthalmoplegia with myopathy"; "OMIM:530000" . _:102a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial Cytopathy"; "OMIM:530000" . _:102a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculocraniosomatic syndrome"; "OMIM:530000" . _:102a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia plus syndrome"; "GARD:0006817" . _:102aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy"; "OMIM:530000" . _:102abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia, progressive external, with ragged red fibers"; "GARD:0006817" . _:102aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia, progressive external, with ragged-Red fibers"; "OMIM:530000" . _:102b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ophthalmoplegia-plus syndrome"; "OMIM:530000" . _:102b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006817" . _:102b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:480" . _:102bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome"^^xsd:anyURI; "GARD:0006817" . a owl:Class; rdfs:subClassOf , , , ; "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis."; , ; , , , , , , ; "DOID:0050453", "GARD:0007300", "GARD:0012291", "HP:0001339", "ICD10:Q04.3", "ICD10:Q04.8", "MESH:D054082", "MONDO:0018838", "MSH:D054082", "MedDRA:10048911", "NCIT:C103921", "OMIM:616212", "OMIM:617255", "OMIMPS:607432", "SCTID:204036008", "UMLS:C0266463"; "lissencephaly", "lissencephaly (disease)"; "Broad gyri of cerebrum", "large gyri of cerebrum", "macrogyria", "pachygyria"; "Orphanet:48471"; ; rdfs:label "Lissencephaly" . _:102cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis."; "Orphanet:48471" . _:102cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050453"; "MONDO:equivalentTo" . _:102ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007300"; "MONDO:equivalentTo", "shared-umls-xref" . _:102d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012291"; "MONDO:equivalentTo", "Orphanet-shared" . _:102d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0001339"; "MONDO:otherHierarchy", "ontobio" . _:102d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "DOID:0050453", "ORDO:48471/inclusion", "ORDO:48471/ntbt", "Orphanet:48471" . _:102d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.8"; "DOID:0050453" . _:102d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D054082"; "DOID:0050453", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:48471/e", "Orphanet:48471" . _:102dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048911"; "ORDO:48471/e", "Orphanet:48471" . _:102ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C103921"; "DOID:0050453", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:102dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616212"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:102e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617255"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:102e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:607432"; "MONDO:cjm", "MONDO:equivalentTo" . _:102e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:204036008"; "DOID:0050453", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:102e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266463"; "DOID:0050453", "MONDO:equivalentTo", "NCIT:C103921", "ORDO:48471/e", "Orphanet:48471" . _:102ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lissencephaly"; "MONDO:ambiguous" . _:102edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lissencephaly (disease)"; rdfs:comment "preferred label from MONDO" . _:102eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Broad gyri of cerebrum"; "GARD:0007300" . _:102f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "large gyri of cerebrum"; "GARD:0007300" . _:102f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "macrogyria"; "GARD:0007300" . _:102f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pachygyria"; "GARD:0007300" . _:102f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:48471" . a owl:Class; rdfs:subClassOf , , ; "Autosomal dominant form of severe congenital neutropenia."; , ; "Autosomal dominant severe congenital neutropenia is a rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections."@en; "orphanet"@en; "GARD:0009558", "ICD-10:D70", "ICD10:D70", "MONDO:0008742", "OMIM:202700", "OMIM:257100", "OMIM:613107", "UMLS:C1859966"; "autosomal dominant severe congenital neutropenia", "severe congenital neutropenia, autosomal dominant"; "severe congenital neutropenia autosomal dominant"; "Orphanet:486"; , ; rdfs:label "Autosomal dominant severe congenital neutropenia", "Autosomal dominant severe congenital neutropenia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant"^^xsd:anyURI; "ORPHA:486" . _:102fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant form of severe congenital neutropenia."; "MONDO:patterns/autosomal_dominant" . _:102fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009558"; "MONDO:equivalentTo" . _:102ffd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24890; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24890 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Attributed"@en . _:10302d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:10303d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70"; "MONDO:subClassOf", "ORDO:486/attributed", "ORDO:486/ntbt", "Orphanet:486" . _:10304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10305d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:257100"; "BTNT (broader term maps to a narrower term)"@en . _:10306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613107"; "BTNT (broader term maps to a narrower term)"@en . _:10307d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1859966"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:202700" . _:10308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant severe congenital neutropenia"; rdfs:comment "preferred label from MONDO" . _:10309d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:1030ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia autosomal dominant"; "GARD:0009558" . _:1030bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009558" . _:1030fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:486" . _:10310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant"^^xsd:anyURI; "GARD:0009558" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare pediatric rheumatologic disease"@en; "ORPHA:486955" . a owl:Class; rdfs:subClassOf , , , , , , ; "Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms."; , ; , , , , ; "Hereditary ceruloplasmin deficiency"@en; "Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms."@en; "orphanet", "orphanet"@en; "DOID:0050711", "GARD:0009499", "ICD-10:G23.0", "ICD10:G23.0", "ICD9:277.6", "MONDO:0011426", "MSH:C536004", "MeSH:C536004", "OMIM:604290", "SCTID:124224004", "UMLS:C0878682"; "Hereditary ceruloplasmin deficiency", "aceruloplasminemia", "hereditary ceruloplasmin deficiency"; "ceruloplasmin deficiency", "familial apoceruloplasmin deficiency", "hemosiderosis, systemic, due to aceruloplasminemia", "hypoceruloplasminemia", "systemic hemosiderosis due to aceruloplasminemia"; "Orphanet:48818"; , ; rdfs:label "Aceruloplasminemia", "Aceruloplasminemia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia"^^xsd:anyURI; "ORPHA:48818" . _:10313d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms."; "Orphanet:48818" . _:10314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050711"; "MONDO:equivalentTo" . _:10319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009499"; "MONDO:equivalentTo" . _:1031ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24907; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24907 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G23.0"; "Attributed"@en . _:1031dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G23.0"; "NTBT (narrower term maps to a broader term)"@en . _:1031fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G23.0"; "ORDO:48818/attributed", "ORDO:48818/ntbt", "Orphanet:48818" . _:10320d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.6"; "MONDO:relatedTo", "i2s" . _:10322d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536004"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10323d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604290"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10324d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604290"; "DOID:0050711", "MONDO:equivalentTo", "ORDO:48818/e", "Orphanet:48818" . _:10327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124224004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.37/0.51" . _:10328d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0878682"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1032bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aceruloplasminemia"; "OMIM:604290" . _:1032cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aceruloplasminemia"; rdfs:comment "preferred label from MONDO" . _:1032fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary ceruloplasmin deficiency"; "Orphanet:48818" . _:10330d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ceruloplasmin deficiency"; "OMIM:604290" . _:10331d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial apoceruloplasmin deficiency"; "GARD:0009499" . _:10334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemosiderosis, systemic, due to aceruloplasminemia"; "OMIM:604290" . _:10336d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoceruloplasminemia"; "OMIM:604290" . _:10337d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "systemic hemosiderosis due to aceruloplasminemia"; "GARD:0009499" . _:10338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009499" . _:10339d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:48818" . _:1033ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia"^^xsd:anyURI; "GARD:0009499" . a owl:Class; rdfs:subClassOf ; "Focal nodular myositis"@en, "Inflammatory pseudotumor of skeletal muscle"@en; "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities."@en; "orphanet"@en; "ICD-10:M60.8", "UMLS:C0751357"; rdfs:label "Focal myositis"@en; "ORPHA:48918" . _:1033ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M60.8"; "NTBT (narrower term maps to a broader term)"@en . _:1033fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751357"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Idiopathic retroperitoneal fibrosis"@en, "Ormond disease"@en; "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle."@en; "orphanet"@en; "ICD-10:N13.5", "MeSH:D012185", "MedDRA:10038979", "OMIM:228800", "UMLS:C0035357"; rdfs:label "IgG4-related retroperitoneal fibrosis"@en; "ORPHA:49041" . _:10344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N13.5"; "NTBT (narrower term maps to a broader term)"@en . _:10346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012185"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10347d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038979"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:228800"; "BTNT (broader term maps to a narrower term)"@en . _:1034ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035357"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.", "Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide."; , ; , , , , , ; "ACHM"@en, "Complete or incomplete color blindness"@en, "Pingelapese blindness"@en, "Rod monochromacy"@en, "Rod monochromatism"@en, "Total color blindness"@en; "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function."@en; "orphanet", "orphanet"@en; "DOID:13911", "ICD-10:H53.5", "ICD10:H53.5", "ICD10:H53.51", "ICD9:368.54", "MONDO:0018852", "MedDRA:10000454", "NCIT:C84528", "OMIM:216900", "OMIM:262300", "OMIM:610024", "OMIM:613093", "OMIM:613856", "OMIM:616517", "SCTID:102450007", "UMLS:C0152200"; "ACHM", "Complete or incomplete color blindness", "Pingelapese blindness", "Rod monochromacy", "Rod monochromatism", "Total color blindness", "achromatopsia", "complete or incomplete color blindness", "complete or incomplete colour blindness", "monochromatism", "total color blindness", "total colour blindness"; "Orphanet:49382"; , ; rdfs:comment "Editor note: we include incomplete forms here, such as BCM"; rdfs:label "Achromatopsia", "Achromatopsia"@en; "ORPHA:49382" . _:1034fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function."; "Orphanet:49382" . _:10350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13911"; "MONDO:equivalentTo" . _:10351d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24937; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24937 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H53.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10353d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H53.5"; "NTBT (narrower term maps to a broader term)"@en . _:1038dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H53.5"; "ORDO:49382/inclusion", "ORDO:49382/ntbt", "Orphanet:49382" . _:1038fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H53.51"; "DOID:13911", "MONDO:equivalentTo" . _:10393d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:368.54"; "DOID:13911" . _:10395d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000454"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000454"; "ORDO:49382/e", "Orphanet:49382" . _:10399d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84528"; "DOID:13911", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:1039bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:216900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1039cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:262300"; "BTNT (broader term maps to a narrower term)"@en . _:1039dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610024"; "BTNT (broader term maps to a narrower term)"@en . _:1039ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613093"; "NTBT (narrower term maps to a broader term)"@en . _:103a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613093"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:103a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613856"; "BTNT (broader term maps to a narrower term)"@en . _:103a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616517"; "BTNT (broader term maps to a narrower term)"@en . _:103a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616517"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:103a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:102450007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.77/2.51" . _:103a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152200"; "DOID:13911", "MONDO:equivalentTo", "NCIT:C84528", "ORDO:49382/e", "Orphanet:49382" . _:103a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACHM"; "DOID:13911", "Orphanet:49382" . _:103abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pingelapese blindness"; "Orphanet:49382" . _:103acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rod monochromacy"; "Orphanet:49382" . _:103aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rod monochromatism"; "Orphanet:49382" . _:103afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achromatopsia"; rdfs:comment "preferred label from MONDO" . _:103b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complete or incomplete color blindness"; "Orphanet:49382" . _:103b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monochromatism"; "DOID:13911", "MTHICD9_2006:368.54" . _:103b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "total color blindness"; "Orphanet:49382" . _:103b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:49382" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare hyperkinetic movement disorder"@en; "ORPHA:494457" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic hyperkinetic movement disorder"@en; "ORPHA:496916" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness."; ; , , , , , ; "Rogers syndrome"@en, "TRMA"@en, "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness"@en; "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness."@en; "orphanet", "orphanet"@en; "DOID:0090117", "GARD:0009210", "GARD:9210", "ICD-10:Q21.0", "ICD10:D53.1", "ICD10:Q21.0", "MESH:C536510", "MONDO:0009575", "MSH:C536510", "MeSH:C536510", "OMIM:249270", "SCTID:237617006", "UMLS:C0342287"; "Rogers syndrome", "THMD1", "TRMA", "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness", "thiamine metabolism dysfunction syndrome 1", "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)", "thiamine-responsive anemia syndrome", "thiamine-responsive megaloblastic anemia syndrome", "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness", "thiamine-responsive myelodysplasia"; "megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness", "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness", "thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)", "thiamine responsive megaloblastic anemia syndrome", "thiamine-responsive Anemia syndrome", "thiamine-responsive megaloblastic anemia syndrome; TRMA"; "Orphanet:49827"; , ; rdfs:label "Thiamine-responsive megaloblastic anemia syndrome", "Thiamine-responsive megaloblastic anemia syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome"^^xsd:anyURI; "ORPHA:49827" . _:103bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness."; "Orphanet:49827" . _:103bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0090117"; "MONDO:equivalentTo" . _:103bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009210"; "MONDO:equivalentTo" . _:103c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:9210"; "DOID:0090117" . _:103c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q21.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103c5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid24971; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid24971 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q21.0"; "Index term"@en . _:103c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q21.0"; "DOID:0090117", "ORDO:49827/e", "ORDO:49827/index", "Orphanet:49827" . _:103c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536510"; "DOID:0090117", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:49827/e", "Orphanet:49827" . _:103cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536510"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:249270"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:249270"; "DOID:0090117", "MONDO:equivalentTo", "ORDO:49827/e", "Orphanet:49827" . _:103d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237617006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.63" . _:103d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342287"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rogers syndrome"; "DOID:0090117", "Orphanet:49827" . _:103d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THMD1"; "DOID:0090117" . _:103d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRMA"; "DOID:0090117", "MONDO:Lexical", "OMIM:249270", "Orphanet:49827" . _:103d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine metabolism dysfunction syndrome 1"; "DOID:0090117" . _:103ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)"; "DOID:0090117" . _:103ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine-responsive anemia syndrome"; "DOID:0090117" . _:103dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine-responsive megaloblastic anemia syndrome"; "MONDO:Lexical", "OMIM:249270" . _:103e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine-responsive megaloblastic anemia syndrome"; rdfs:comment "preferred label from MONDO" . _:103e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness"; "DOID:0090117", "Orphanet:49827" . _:103e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine-responsive myelodysplasia"; "DOID:0090117", "OMIM:249270" . _:103e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness"; "OMIM:249270" . _:103e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness"; "GARD:0009210" . _:103e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)"; "OMIM:249270" . _:103e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine responsive megaloblastic anemia syndrome"; "GARD:0009210" . _:103e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine-responsive Anemia syndrome"; "OMIM:249270" . _:103e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thiamine-responsive megaloblastic anemia syndrome; TRMA"; "OMIM:249270" . _:103ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009210" . _:103edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:49827" . _:103eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome"^^xsd:anyURI; "GARD:0009210" . a owl:Class; rdfs:subClassOf ; rdfs:label "Overgrowth or tall stature syndrome with skeletal involvement"@en; "ORPHA:498448" . a owl:Class; rdfs:subClassOf ; rdfs:label "Longitudinal limb defect"@en; "ORPHA:498457" . a owl:Class; rdfs:subClassOf ; rdfs:label "Non-syndromic preaxial polydactyly"@en; "ORPHA:498464" . a owl:Class; rdfs:subClassOf ; rdfs:label "Non-syndromic postaxial polydactyly"@en; "ORPHA:498467" . a owl:Class; rdfs:subClassOf ; "OMIM:608811"; rdfs:label "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"@en; "ORPHA:498485" . _:103f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608811"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Overgrowth syndrome with 2q37 translocation"@en; "ORPHA:498488" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Cardiomyopathic lentiginosis"@en, "Familial multiple lentigines syndrome"@en, "LEOPARD syndrome"@en; "Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features."@en; "orphanet"@en; "ICD-10:Q87.1", "ICD10:Q87.8", "MSH:C537116", "MSH:D044542", "MeSH:C537116", "MeSH:D044542", "MedDRA:10062901", "OMIM:151100", "OMIM:611554", "OMIM:613707", "UMLS:C0175704", "UMLS:C2931424"; "Cardiomyopathic lentiginosis", "Familial multiple lentigines syndrome"; rdfs:label "LEOPARD syndrome", "Noonan syndrome with multiple lentigines"@en; "ORPHA:500" . _:103f6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25000; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25000 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:103f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:103fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537116"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D044542"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062901"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:151100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:103ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611554"; "BTNT (broader term maps to a narrower term)"@en . _:10400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613707"; "BTNT (broader term maps to a narrower term)"@en . _:10402d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175704"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10404d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931424"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis."@en; "orphanet"@en; "ICD-10:C45.0", "MeSH:D008654", "MedDRA:10027406", "OMIM:156240", "UMLS:C0025500", "UMLS:C0812413", "UMLS:C1377913"; rdfs:label "Pleural mesothelioma"@en; "ORPHA:50251" . _:1040ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C45.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1040dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008654"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1040ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027406"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10412d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:156240"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0812413"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1041ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1377913"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency"@en; "OMIM:617575"; rdfs:label "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency"@en; "ORPHA:506334" . _:1041ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617575"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia."; , , , , ; "FTCD deficiency"@en, "Formiminotransferase cyclodeaminase deficiency"@en, "Glutamate formiminotransferase deficiency"@en; "A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated."@en; "orphanet"@en; "GARD:0009279", "ICD-10:E70.8", "ICD10:E70.8", "ICD9:270.8", "MESH:C537425", "MONDO:0009240", "OMIM:229100", "SCTID:59761008", "UMLS:C0268609"; "FTCD deficiency", "Formiminotransferase cyclodeaminase deficiency", "Glutamate formiminotransferase deficiency", "formiminoglutamic aciduria", "formiminotransferase cyclodeaminase deficiency", "glutamate formiminotransferase deficiency"; "Arakawa syndrome 1", "Figlu-Uria", "Formiminoglutamicaciduria (FIGLU-Uria)", "formiminoglutamic acidemia", "formiminotransferase deficiency", "formiminotransferase deficiency syndrome"; "Orphanet:51208"; ; rdfs:label "Formiminoglutamic aciduria", "Formiminoglutamic aciduria"@en; "ORPHA:51208" . _:10420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia."; "Orphanet:51208" . _:10421d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009279"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:10422d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25021; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25021 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.8"; "Attributed"@en . _:10423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.8"; "NTBT (narrower term maps to a broader term)"@en . _:10424d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.8"; "ORDO:51208/attributed", "ORDO:51208/ntbt", "Orphanet:51208" . _:10427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:10429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537425"; "MONDO:equivalentTo", "MONDO:ontobio" . _:1042cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:229100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1042ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:229100"; "MONDO:equivalentTo", "ORDO:51208/e", "Orphanet:51208" . _:10431d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:59761008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:10432d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268609"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268609"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:229100", "Orphanet:51208" . _:10435d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FTCD deficiency"; "Orphanet:51208" . _:10436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "formiminoglutamic aciduria"; "OMIM:229100" . _:10437d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "formiminoglutamic aciduria"; rdfs:comment "preferred label from MONDO" . _:10438d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "formiminotransferase cyclodeaminase deficiency"; "Orphanet:51208" . _:10439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glutamate formiminotransferase deficiency"; "OMIM:229100", "Orphanet:51208" . _:1043ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arakawa syndrome 1"; "GARD:0009279" . _:1043bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Figlu-Uria"; "OMIM:229100" . _:1043cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Formiminoglutamicaciduria (FIGLU-Uria)"; "GARD:0009279" . _:1043ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "formiminoglutamic acidemia"; "GARD:0009279" . _:10440d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "formiminotransferase deficiency"; "OMIM:229100" . _:10441d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "formiminotransferase deficiency syndrome"; "GARD:0009279" . _:10443d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:51208" . a owl:Class; rdfs:subClassOf ; "ALL"@en, "Acute lymphoblastic leukemia/lymphoma"@en, "Acute lymphocytic leukemia"@en; "Acute lymphoblastic leukaemia (ALL) is a malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia."@en; "orphanet"@en; "ICD-10:C91.0", "OMIM:247640", "OMIM:613065", "OMIM:613067", "UMLS:C0023449"; rdfs:label "Acute lymphoblastic leukemia"@en; "ORPHA:513" . _:10448d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C91.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1044bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:247640"; "BTNT (broader term maps to a narrower term)"@en . _:1044dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613065"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1044fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613067"; "BTNT (broader term maps to a narrower term)"@en . _:10450d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023449"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "AML M5"@en, "Acute monocytic leukemia"@en; "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)."@en; "orphanet"@en; "ICD-10:C92.7", "MeSH:D007948", "MedDRA:10000871", "MedDRA:10059439", "UMLS:C0023465", "UMLS:C0457334", "UMLS:C1318544"; rdfs:label "Acute monoblastic leukemia"@en; "ORPHA:514" . _:10452d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C92.7"; "NTBT (narrower term maps to a broader term)"@en . _:10453d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D007948"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10454d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000871"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10455d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059439"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023465"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0457334"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10458d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1318544"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent."; ; , ; "ICD10:Q04.3", "MONDO:0018869", "SCTID:253149002"; "Lissencephaly type 2", "cobblestone lissencephaly", "lissencephaly type 2"; "Orphanet:51577"; ; rdfs:label "Cobblestone lissencephaly" . _:1045ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent."; "Orphanet:51577" . _:1045cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "ORDO:51577/inclusion", "ORDO:51577/ntbt", "Orphanet:51577" . _:1045fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:253149002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.68/0.30/0.22" . _:1046bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobblestone lissencephaly"; rdfs:comment "preferred label from MONDO" . _:1046cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lissencephaly type 2"; "Orphanet:51577" . _:1046dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:51577" . a owl:Class; rdfs:subClassOf , , ; "WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).", "WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)."; , , , , , ; "WILM"@en, "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome"@en, "Warts-infections-leukopenia-myelokatexis syndrome"@en; "WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)."@en; "orphanet", "orphanet"@en; "DOID:0060591", "GARD:0009297", "ICD-10:D81.8", "ICD10:D81.8", "MESH:C536697", "MONDO:0008674", "MSH:C536697", "MeSH:C536697", "OMIM:193670", "SCTID:234571003", "UMLS:C0472817"; "WHIM syndrome", "WHIMS", "WILM", "Warts, hypogammaglobulinemia, infections, and myelokathexis", "Warts-hypogammaglobulinemia-infections-myelokathexis", "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome", "Warts-infections-leukopenia-myelokatexis", "Warts-infections-leukopenia-myelokatexis syndrome"; "WHIM syndrome; WHIMS", "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome"; "Orphanet:51636"; , ; rdfs:label "WHIM syndrome", "WHIM syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome"^^xsd:anyURI; "ORPHA:51636" . _:10479d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)."; "Orphanet:51636" . _:1047ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060591"; "MONDO:equivalentTo" . _:1047bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009297"; "MONDO:equivalentTo" . _:1047cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25065; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25065 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:1047dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:1047ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "DOID:0060591", "ORDO:51636/attributed", "ORDO:51636/ntbt", "Orphanet:51636" . _:1047fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536697"; "DOID:0060591", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:51636/e", "Orphanet:51636" . _:10480d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536697"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10481d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:193670"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10482d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:193670"; "DOID:0060591", "MONDO:equivalentTo", "ORDO:51636/e", "Orphanet:51636" . _:10483d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234571003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:104a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0472817"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0472817"; "DOID:0060591", "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:193670", "ORDO:51636/e", "Orphanet:51636" . _:104a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHIM syndrome"; "MONDO:Lexical", "OMIM:193670" . _:104a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHIM syndrome"; rdfs:comment "preferred label from MONDO" . _:104a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHIMS"; "DOID:0060591", "MONDO:Lexical", "OMIM:193670" . _:104a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WILM"; "Orphanet:51636" . _:104a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Warts, hypogammaglobulinemia, infections, and myelokathexis"; "DOID:0060591" . _:104a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome"; "DOID:0060591", "Orphanet:51636" . _:104aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Warts-infections-leukopenia-myelokatexis syndrome"; "Orphanet:51636" . _:104abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHIM syndrome; WHIMS"; "OMIM:193670" . _:104b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome"; "OMIM:193670" . _:104b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009297" . _:104b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:51636" . _:104b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome"^^xsd:anyURI; "GARD:0009297" . a owl:Class; rdfs:subClassOf ; "AML M4"@en, "AMMoL"@en; "Acute myelomonocytic leukemia (AML-M4) is a form of acute myeloid leukemia (AML; see this term) that usually presents with fever, pallor, dyspnoea, fatigue, loss of weight and bleeding disorders. Leukemia cutis and gingival infiltration can also be seen. AML-M4 may in some cases be associated with abnormal bone marrow eosinophilia (AML-M4Eo) and/or with inv (16) which is associated with a high response rate to chemotherapy and favorable clinical outcome compared to other types of AML. Intracranial masses can occur, usually in the setting of AML-M4Eo with inv (16)."@en; "orphanet"@en; "ICD-10:C92.5", "MeSH:D015479", "MedDRA:10000890", "UMLS:C0023479"; rdfs:label "Acute myelomonocytic leukemia"@en; "ORPHA:517" . _:104b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C92.5"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015479"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000890"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023479"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "AMKL"@en, "AML M7"@en, "Acute megakaryocytic leukemia"@en, "Acute myeloid leukemia M7"@en; "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML; see this term) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis (see this term)may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis."@en; "orphanet"@en; "ICD-10:C94.2", "UMLS:C0023462"; rdfs:label "Acute megakaryoblastic leukemia"@en; "ORPHA:518" . _:104bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C94.2"; "NTBT (narrower term maps to a broader term)"@en . _:104bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023462"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "AML"@en, "Acute myelogenous leukemia"@en; "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections."@en; "orphanet"@en; "ICD-10:C92.0", "MeSH:D015470", "MedDRA:10000880", "OMIM:601626", "UMLS:C0023467", "UMLS:C1879321"; rdfs:label "Acute myeloid leukemia"@en; "ORPHA:519" . _:104c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C92.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015470"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000880"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601626"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023467"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1879321"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare disorder of the ocular adnexa"@en; "ORPHA:519266" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare disorder with ectropion"@en; "ORPHA:519268" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Structural developmental eye defect"@en; "ORPHA:519272" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare disorder of the anterior segment of the eye"@en; "ORPHA:519284" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare disorder of the posterior segment of the eye"@en; "ORPHA:519311" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare retinal disorder"@en; "ORPHA:519315" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare disorder involving multiple structures of the eye"@en; "ORPHA:519329" . a owl:Class; rdfs:subClassOf ; rdfs:label "Secondary early-onset glaucoma"@en; "ORPHA:519331" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys."; , , , , , , ; "Alagille-Watson syndrome"@en, "Arteriohepatic dysplasia"@en, "Syndromic bile duct paucity"@en; "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys."@en; "orphanet"@en; "true"; "DOID:9245", "GARD:0000804", "ICD-10:Q44.7", "ICD10:Q44.7", "ICD9:759.89", "MESH:D016738", "MONDO:0007318", "MSH:D016738", "MeSH:D016738", "MedDRA:10053870", "NCIT:C35139", "OMIM:118450", "OMIM:610205", "OMIMPS:118450", "SCTID:31742004", "UMLS:C0085280"; "Alagille syndrome", "Alagille-Watson syndrome", "Arteriohepatic dysplasia", "Syndromic bile duct paucity", "syndromic bile duct paucity"; "Cardiovertebral syndrome", "Hepatofacioneurocardiovertebral syndrome", "Watson Alagille syndrome", "Watson-Miller syndrome", "hepatic ductular hypoplasia", "paucity of interlobular bile ducts"; "Orphanet:52"; ; rdfs:label "Alagille syndrome", "Alagille syndrome"@en; "ORPHA:52" . _:104d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys."; "Orphanet:52" . _:104d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9245"; "MONDO:equivalentTo" . _:104d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000804"; "MONDO:equivalentTo", "Orphanet-shared" . _:104ddd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25103; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25103 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q44.7"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:104e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q44.7"; "NTBT (narrower term maps to a broader term)"@en . _:104e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q44.7"; "DOID:9245", "ORDO:52/inclusion", "ORDO:52/ntbt", "Orphanet:52" . _:104e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:104e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016738"; "DOID:9245", "MONDO:equivalentTo", "ORDO:52/e", "Orphanet:52" . _:104ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016738"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053870"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053870"; "ORDO:52/e", "Orphanet:52" . _:104f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35139"; "DOID:9245", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.70/1.14" . _:104f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:118450"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610205"; "BTNT (broader term maps to a narrower term)"@en . _:104f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:118450"; "MONDO:cjm", "MONDO:equivalentTo" . _:104f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:31742004"; "DOID:9245", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.75/1.57" . _:104fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085280"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:104fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085280"; "DOID:9245", "MONDO:equivalentTo", "NCIT:C35139", "OMIM:118450", "ORDO:52/e", "Orphanet:52" . _:104ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alagille syndrome"; "OMIM:118450" . _:10501d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alagille syndrome"; rdfs:comment "preferred label from MONDO" . _:10502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alagille-Watson syndrome"; "CSP2005:5005-0002", "DOID:9245", "Orphanet:52" . _:10504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arteriohepatic dysplasia"; "Orphanet:52" . _:10505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic bile duct paucity"; "Orphanet:52" . _:10507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiovertebral syndrome"; "GARD:0000804" . _:10508d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hepatofacioneurocardiovertebral syndrome"; "GARD:0000804" . _:1050bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Watson Alagille syndrome"; "GARD:0000804" . _:1050ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Watson-Miller syndrome"; "GARD:0000804" . _:10510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatic ductular hypoplasia"; "GARD:0000804" . _:10512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "paucity of interlobular bile ducts"; "GARD:0000804" . _:10513d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:52" . a owl:Class; rdfs:subClassOf ; "AML M3"@en, "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants"@en, "APML"@en, "Acute myeloblastic leukemia 3"@en, "Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants"@en; "Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue."@en; "orphanet"@en; "ICD-10:C92.4", "MeSH:D015473", "MedDRA:10001019", "OMIM:612376", "UMLS:C0023487"; rdfs:label "Acute promyelocytic leukemia"@en; "ORPHA:520" . _:10519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C92.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1051ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015473"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1051bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001019"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1051cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612376"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1051dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023487"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare disorder of the visual organs"@en; "ORPHA:520814" . a owl:Class; rdfs:subClassOf ; "CML"@en, "Chronic granulocytic leukemia"@en, "Chronic myelogenous leukemia"@en; "Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases."@en; "orphanet"@en; "ICD-10:C92.1", "MedDRA:10009013", "OMIM:608232", "UMLS:C0023473"; rdfs:label "Chronic myeloid leukemia"@en; "ORPHA:521" . _:1051ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C92.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10520d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10009013"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10522d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608232"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10523d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023473"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic disorder of the visual organs"@en; "ORPHA:522504" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic disorder of the ocular adnexa"@en; "ORPHA:522524" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare genetic palpebral disorder"@en; "ORPHA:522526" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic eyelid malposition disorder"@en; "ORPHA:522528" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Structural developmental eye defect of genetic origin"@en; "ORPHA:522536" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic disorder of the anterior segment of the eye"@en; "ORPHA:522538" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic disorder with lens opacification"@en; "ORPHA:522546" . a owl:Class; rdfs:subClassOf ; rdfs:label "Syndromic genetic cataract"@en; "ORPHA:522548" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic disorder of the posterior segment of the eye"@en; "ORPHA:522570" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic retinal disorder"@en; "ORPHA:522572" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic disorder involving multiple structures of the eye"@en; "ORPHA:522578" . a owl:Class; rdfs:subClassOf ; rdfs:label "Secondary early-onset glaucoma of genetic origin"@en; "ORPHA:522580" . a owl:Class; rdfs:subClassOf , , , ; "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer."; , , , , , ; ; "Familial leiomyomatosis and renal cell cancer"@en, "Familial leiomyomatosis cutis et uteri"@en, "Familial leiomyomatosis with renal carcinoma"@en, "Familial multiple cutaneous leiomyomas"@en, "HLRCC"@en, "Hereditary leiomyomatosis"@en, "Hereditary leiomyomatosis with renal carcinoma"@en, "Hereditary multiple cutaneous leiomyomas"@en, "MCUL"@en, "Multiple cutaneous and uterine leiomyomas"@en, "Reed syndrome"@en; "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer."@en; "orphanet", "orphanet"@en; "GARD:0010096", "ICD-10:C64", "ICD10:C64", "ICD10:D23", "MESH:C535516", "MONDO:0007888", "NCIT:C51302", "OMIM:150800", "UMLS:C1708350", "UMLS:CN239164"; "Familial leiomyomatosis and renal cell cancer", "Familial leiomyomatosis cutis et uteri", "Familial leiomyomatosis with renal carcinoma", "Familial multiple cutaneous leiomyomas", "HLRCC", "Hereditary leiomyomatosis", "Hereditary leiomyomatosis with renal carcinoma", "Hereditary multiple cutaneous leiomyomas", "MCUL", "Multiple cutaneous and uterine leiomyomas", "Reed syndrome", "familial leiomyomatosis and renal cell cancer", "familial leiomyomatosis cutis et uteri", "familial leiomyomatosis with renal carcinoma", "familial multiple cutaneous leiomyomas", "hereditary leiomyomatosis", "hereditary leiomyomatosis and renal cell cancer", "hereditary leiomyomatosis and renal cell cancer syndrome", "hereditary leiomyomatosis and renal cell carcinoma", "hereditary leiomyomatosis with renal carcinoma", "hereditary multiple cutaneous leiomyomas", "multiple cutaneous and uterine leiomyomas"; "LRCC", "Reed's syndrome", "hereditary leiomyomatosis and renal cell cancer; HLRCC", "leiomyoma, multiple cutaneous", "leiomyomatosis and renal cell cancer, hereditary", "multiple cutaneous and uterine leiomyomata", "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma", "multiple cutaneous leiomyomata"; "Orphanet:523"; ; rdfs:label "Hereditary leiomyomatosis and renal cell cancer", "Hereditary leiomyomatosis and renal cell cancer"@en; "ORPHA:523" . _:1052fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer."; "Orphanet:523" . _:10530d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:523" . _:10533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010096"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:10535d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25143; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25143 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C64"; "Attributed"@en . _:1053ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C64"; "NTBT (narrower term maps to a broader term)"@en . _:1053bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C64"; "ORDO:523/attributed", "ORDO:523/ntbt", "Orphanet:523" . _:1053dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535516"; "MONDO:equivalentTo", "MONDO:ontobio" . _:1053fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C51302"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:10540d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:150800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:150800"; "MONDO:equivalentTo", "ORDO:523/e", "Orphanet:523" . _:10548d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1708350"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1054ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1708350"; "MEDGEN:kboom-pr92-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C51302", "OMIM:150800", "Orphanet:523" . _:1054dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239164"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:1054fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLRCC"; "MONDO:Lexical", "OMIM:150800", "Orphanet:523" . _:10551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCUL"; "Orphanet:523" . _:10552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reed syndrome"; "Orphanet:523" . _:10555d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial leiomyomatosis and renal cell cancer"; "Orphanet:523" . _:10558d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial leiomyomatosis cutis et uteri"; "Orphanet:523" . _:1055ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial leiomyomatosis with renal carcinoma"; "Orphanet:523" . _:1055cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial multiple cutaneous leiomyomas"; "Orphanet:523" . _:1055fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary leiomyomatosis"; "Orphanet:523" . _:10560d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary leiomyomatosis and renal cell cancer"; "MONDO:Lexical", "OMIM:150800" . _:10561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary leiomyomatosis and renal cell cancer"; rdfs:comment "preferred label from MONDO" . _:10562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary leiomyomatosis and renal cell cancer syndrome"; "NCIT:C51302" . _:10564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary leiomyomatosis and renal cell carcinoma"; "NCIT:C51302" . _:10566d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary leiomyomatosis with renal carcinoma"; "Orphanet:523" . _:10567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary multiple cutaneous leiomyomas"; "Orphanet:523" . _:1056ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cutaneous and uterine leiomyomas"; "Orphanet:523" . _:1056bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LRCC"; "GARD:0010096" . _:1056cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reed's syndrome"; "GARD:0010096" . _:1056ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary leiomyomatosis and renal cell cancer; HLRCC"; "OMIM:150800" . _:1056fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leiomyoma, multiple cutaneous"; "OMIM:150800" . _:10570d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leiomyomatosis and renal cell cancer, hereditary"; "OMIM:150800" . _:10571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cutaneous and uterine leiomyomata"; "GARD:0010096" . _:10574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma"; "OMIM:150800" . _:10575d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple cutaneous leiomyomata"; "GARD:0010096" . _:10577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:523" . a owl:Class; rdfs:subClassOf ; rdfs:label "Pediatric-onset glaucoma"@en; "ORPHA:523000" . a owl:Class; rdfs:subClassOf , , , , , ; "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)."; , , , , , , ; "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)."@en; "orphanet", "orphanet"@en; "DOID:3012", "GARD:0006902", "ICD-10:D48.9", "ICD10:D48.9", "ICD9:V84.01", "MESH:D016864", "MONDO:0018875", "MSH:D016864", "MeSH:D016864", "MedDRA:10066795", "NCIT:C3476", "OMIM:151623", "OMIM:609265", "OMIM:609266", "OMIMPS:151623", "SCTID:428850001", "UMLS:C0085390"; "Li-Fraumeni familial cancer susceptibility syndrome", "Li-Fraumeni familiar cancer susceptibility syndrome", "Li-Fraumeni syndrome", "SBLA syndrome", "sarcoma, breast, leukaemia and adrenal gland syndrome"; "Li Fraumeni syndrome", "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "sarcoma family syndrome of Li and Fraumeni"; "Orphanet:524"; ; rdfs:label "Li-Fraumeni syndrome", "Li-Fraumeni syndrome"@en; "ORPHA:524" . _:1057fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)."; "Orphanet:524" . _:10581d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3012"; "MONDO:equivalentTo" . _:10584d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006902"; "MONDO:equivalentTo", "Orphanet-shared" . _:10586d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25181; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25181 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D48.9"; "Attributed"@en . _:10589d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D48.9"; "NTBT (narrower term maps to a broader term)"@en . _:1058ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D48.9"; "ORDO:524/attributed", "ORDO:524/ntbt", "Orphanet:524" . _:1058bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:V84.01"; "MONDO:relatedTo", "i2s" . _:1058dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016864"; "DOID:3012", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:524/e", "Orphanet:524" . _:1058fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016864"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10591d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066795"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10592d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066795"; "ORDO:524/e", "Orphanet:524" . _:10593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3476"; "DOID:3012", "MONDO:equivalentTo", "exact-label-match" . _:10595d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:151623"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10596d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609265"; "BTNT (broader term maps to a narrower term)"@en . _:10597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609266"; "BTNT (broader term maps to a narrower term)"@en . _:10598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:151623"; "MONDO:cjm", "MONDO:equivalentTo" . _:105d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:428850001"; "DOID:3012", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:105d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085390"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:105d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085390"; "DOID:3012", "MONDO:equivalentTo", "NCIT:C3476", "ORDO:524/e", "Orphanet:524" . _:105d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Li-Fraumeni familial cancer susceptibility syndrome"; "NCIT:C3476" . _:105dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Li-Fraumeni familiar cancer susceptibility syndrome"; "DOID:3012", "NCIT:C3476" . _:105dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Li-Fraumeni syndrome"; "NCIT:C3476" . _:105e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Li-Fraumeni syndrome"; rdfs:comment "preferred label from MONDO" . _:105e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBLA syndrome"; "DOID:3012" . _:105e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sarcoma, breast, leukaemia and adrenal gland syndrome"; "DOID:3012" . _:105e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Li Fraumeni syndrome"; "GARD:0006902" . _:105e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)"; "GARD:0006902" . _:105e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sarcoma family syndrome of Li and Fraumeni"; "GARD:0006902" . _:105ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:524" . a owl:Class; rdfs:subClassOf ; "LCM"@en, "MCL"@en, "Mantle zone lymphoma"@en; "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''."@en; "orphanet"@en; "ICD-10:C83.1", "MeSH:D020522", "MedDRA:10061275", "UMLS:C0555202"; rdfs:label "Mantle cell lymphoma"@en; "ORPHA:52416" . _:105eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C83.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:105f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020522"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:105f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061275"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:105f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0555202"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Extranodal marginal zone B-cell lymphoma"@en, "MALToma"@en, "Mucosa-associated lymphatic tissue lymphoma"@en, "Mucosa-associated lymphoid tissue lymphoma"@en; "MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes."@en; "orphanet"@en; "ICD-10:C88.4", "MedDRA:10060707", "OMIM:137245", "UMLS:C0242647"; rdfs:label "MALT lymphoma"@en; "ORPHA:52417" . _:105f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C88.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:105fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060707"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:105fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137245"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:105fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242647"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure."; , , , ; "IBMPFD"@en, "Limb-girdle muscular dystrophy with Paget disease of bone"@en, "Pagetoid amyotrophic lateral sclerosis"@en, "Pagetoid neuroskeletal syndrome"@en; "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure."@en; "orphanet"@en; "DC:0000545", "DOID:0050881", "GARD:0010899", "ICD-10:G71.8", "ICD10:G71.8", "MONDO:0000507", "OMIM:167320", "OMIM:615422", "OMIM:615424", "OMIMPS:167320", "SCTID:703544004", "UMLS:C1833662"; "IBMPFD", "Limb-girdle muscular dystrophy with Paget disease of bone", "Pagetoid amyotrophic lateral sclerosis", "Pagetoid neuroskeletal syndrome", "inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia", "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia", "inclusion body myopathy/Paget disease/frontotemporal dementia", "limb-girdle muscular dystrophy with Paget disease of bone", "pagetoid amyotrophic lateral sclerosis", "pagetoid neuroskeletal syndrome"; "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia"; "Orphanet:52430"; ; rdfs:label "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"@en; "ORPHA:52430" . _:10600d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure."; "Orphanet:52430" . _:10601d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000545"; "MONDO:equivalentTo" . _:10602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050881"; "MONDO:equivalentTo" . _:10604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010899"; "MONDO:equivalentTo", "Orphanet-shared" . _:10605d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25220; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25220 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.8"; "Attributed"@en . _:10608d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.8"; "NTBT (narrower term maps to a broader term)"@en . _:10609d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.8"; "ORDO:52430/attributed", "ORDO:52430/ntbt", "Orphanet:52430" . _:1060ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:167320"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1060ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615422"; "BTNT (broader term maps to a narrower term)"@en . _:1060fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615424"; "BTNT (broader term maps to a narrower term)"@en . _:10610d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:167320"; "DC:0000545", "MONDO:equivalentTo" . _:10611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703544004"; "MONDO:equivalentTo" . _:10612d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833662"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10613d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833662"; "MONDO:equivalentTo" . _:10614d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBMPFD"; "DOID:0050881", "Orphanet:52430" . _:10616d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy with Paget disease of bone and frontotemporal dementia"; rdfs:comment "preferred label from MONDO" . _:10618d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia"; "DOID:0050881" . _:1061ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia"; "DC:0000545" . _:1061dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy/Paget disease/frontotemporal dementia"; "OMIMPS:167320" . _:10621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "limb-girdle muscular dystrophy with Paget disease of bone"; "Orphanet:52430" . _:10623d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pagetoid amyotrophic lateral sclerosis"; "Orphanet:52430" . _:10624d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pagetoid neuroskeletal syndrome"; "OMIM:167320", "Orphanet:52430" . _:10628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia"; "GARD:0010899" . _:10629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:52430" . a owl:Class; rdfs:subClassOf ; "Pediatric-onset Basedow disease"@en; rdfs:label "Pediatric-onset Graves disease"@en; "ORPHA:525731" . a owl:Class; rdfs:subClassOf ; "Acquired embryofetopathy"@en; rdfs:label "Rare teratologic disease"@en; "ORPHA:52662" . a owl:Class; rdfs:subClassOf ; "MeSH:D009190", "MedDRA:10028532", "OMIM:614286", "UMLS:C0026985", "UMLS:C3463824"; rdfs:label "Myelodysplastic syndrome"@en; "ORPHA:52688" . _:1062dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009190"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1062fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028532"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614286"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10632d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026985"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3463824"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Systemic vasculitis"@en; "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease, see this term) to relatively minor skin disease."@en; "orphanet"@en; "MeSH:D014657", "MeSH:D056647", "MedDRA:10036023", "MedDRA:10047115", "UMLS:C0042384", "UMLS:C0264939"; rdfs:label "Vasculitis"@en; "ORPHA:52759" . _:10638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014657"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D056647"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1063ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036023"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1063dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047115"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1063ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042384"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0264939"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "PROS"@en; rdfs:label "PIK3CA-related overgrowth syndrome"@en; "ORPHA:530313" . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction.", "oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure."; ; , , , , , , , ; "Lowe disease"@en, "Lowe oculo-cerebro-renal syndrome"@en, "Lowe syndrome"@en, "OCR"@en, "OCRL"@en, "Oculo-cerebro-renal dystrophy"@en, "Oculo-cerebro-renal syndrome"@en, "Oculocerebrorenal dystrophy"@en, "Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency"@en; "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure."@en; "orphanet", "orphanet"@en; "DOID:1056", "GARD:0003295", "ICD-10:E72.0", "ICD10:E72.0", "ICD10:E72.03", "ICD9:270.8", "MESH:D009800", "MONDO:0010645", "MSH:D009800", "MeSH:D009800", "MedDRA:10051707", "NCIT:C84940", "OMIM:309000", "SCTID:79385002", "UMLS:C0028860"; "Lowe disease", "Lowe oculo-cerebro-renal syndrome", "Lowe oculocerebrorenal syndrome", "Lowe syndrome", "OCR", "OCRL", "Oculo-cerebro-renal dystrophy", "Oculo-cerebro-renal syndrome", "Oculocerebrorenal dystrophy", "Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency", "oculo-cerebro-renal dystrophy", "oculo-cerebro-renal syndrome", "oculocerebrorenal dystrophy", "oculocerebrorenal syndrome", "oculocerebrorenal syndrome of Lowe", "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency"; "Lowe oculocerebrorenal syndrome", "Lowe oculocerebrorenal syndrome; OCRL", "Ocrl1", "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency"; "Orphanet:534"; ; rdfs:label "Oculocerebrorenal syndrome", "Oculocerebrorenal syndrome of Lowe"@en; "ORPHA:534" . _:10651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure."; "Orphanet:534" . _:10653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1056"; "MONDO:equivalentTo" . _:10657d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003295"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:1065ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25255; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25255 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1065bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "NTBT (narrower term maps to a broader term)"@en . _:1065cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.0"; "ORDO:534/inclusion", "ORDO:534/ntbt", "Orphanet:534" . _:1065dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.03"; "DOID:1056" . _:1065fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:10660d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009800"; "DOID:1056", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:534/e", "Orphanet:534" . _:10662d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10663d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051707"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10664d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051707"; "ORDO:534/e", "Orphanet:534" . _:10665d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84940"; "DOID:1056", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:10667d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:309000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10669d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:309000"; "DOID:1056", "MONDO:equivalentTo", "ORDO:534/e", "Orphanet:534" . _:1066cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:79385002"; "DOID:1056", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.55" . _:1066dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0028860"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10670d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0028860"; "DOID:1056", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84940", "OMIM:309000", "ORDO:534/e", "Orphanet:534" . _:10671d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lowe disease"; "Orphanet:534" . _:10672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lowe oculo-cerebro-renal syndrome"; "Orphanet:534" . _:10673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lowe oculocerebrorenal syndrome"; "DOID:1056" . _:10675d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lowe syndrome"; "DOID:1056", "OMIM:309000", "Orphanet:534" . _:10676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCR"; "Orphanet:534" . _:10677d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCRL"; "MONDO:Lexical", "OMIM:309000", "Orphanet:534" . _:10678d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculo-cerebro-renal dystrophy"; "Orphanet:534" . _:10679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculo-cerebro-renal syndrome"; "Orphanet:534" . _:1067ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculocerebrorenal dystrophy"; "Orphanet:534" . _:1067bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculocerebrorenal syndrome"; rdfs:comment "preferred label from MONDO" . _:1067cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculocerebrorenal syndrome of Lowe"; "CSP2005:1849-1861", "DOID:1056" . _:1067ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency"; "Orphanet:534" . _:1067fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lowe oculocerebrorenal syndrome"; "MONDO:Lexical", "OMIM:309000" . _:10681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lowe oculocerebrorenal syndrome; OCRL"; "OMIM:309000" . _:10682d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ocrl1"; "OMIM:309000" . _:10683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency"; "OMIM:309000" . _:10685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:534" . a owl:Class; rdfs:subClassOf ; "Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE)."@en; "orphanet"@en; "ICD-10:L93.0", "ICD-10:L93.1", "ICD-10:L93.2", "MeSH:D008178", "MedDRA:10056509", "UMLS:C0024137"; rdfs:label "Rare cutaneous lupus erythematosus"@en; "ORPHA:535" . _:10687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L93.0"; "BTNT (broader term maps to a narrower term)"@en . _:10688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L93.1"; "BTNT (broader term maps to a narrower term)"@en . _:1068dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L93.2"; "BTNT (broader term maps to a narrower term)"@en . _:1068fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008178"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10690d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056509"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10691d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024137"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "RASopathy"@en; "ORPHA:536391" . a owl:Class; rdfs:subClassOf , ; "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)."; , , , , ; "Fellman disease"@en, "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"@en, "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"@en; "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)."@en; "orphanet", "orphanet"@en; "GARD:0000001", "ICD-10:E88.8", "ICD10:E88.8", "ICD9:759.89", "MESH:C537934", "MONDO:0011308", "MSH:C537934", "MeSH:C537934", "OMIM:603358", "SCTID:703388005", "UMLS:C1864002"; "Fellman disease", "Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death", "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome", "Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death", "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome", "gracile syndrome"; "FLNMS", "Fellman syndrome", "Finnish lactic acidosis with hepatic hemosiderosis", "Finnish lethal neonatal metabolic syndrome", "Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death", "Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death", "lactic acidosis, Finnish, with hepatic hemosiderosis"; "Orphanet:53693"; , ; rdfs:label "GRACILE syndrome", "GRACILE syndrome"@en; "ORPHA:53693" . _:106a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)."; "Orphanet:53693" . _:106a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000001"; "MONDO:equivalentTo" . _:106a6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25296; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25296 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E88.8"; "Attributed"@en . _:106a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E88.8"; "NTBT (narrower term maps to a broader term)"@en . _:106acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E88.8"; "ORDO:53693/attributed", "ORDO:53693/ntbt", "Orphanet:53693" . _:106aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:106afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537934"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:53693/e", "Orphanet:53693" . _:106b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537934"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:106b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603358"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:106b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603358"; "GARD:0000001", "MONDO:equivalentTo", "ORDO:53693/e", "Orphanet:53693" . _:106b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703388005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.95" . _:106bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864002"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:106bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864002"; "GARD:0000001", "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:603358", "ORDO:53693/e", "Orphanet:53693" . _:106bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fellman disease"; "Orphanet:53693" . _:106bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"; "Orphanet:53693" . _:106bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"; "Orphanet:53693" . _:106c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gracile syndrome"; "OMIM:603358" . _:106c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gracile syndrome"; rdfs:comment "preferred label from MONDO" . _:106c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FLNMS"; "GARD:0000001" . _:106c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fellman syndrome"; "GARD:0000001", "OMIM:603358" . _:106c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finnish lactic acidosis with hepatic hemosiderosis"; "GARD:0000001" . _:106c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finnish lethal neonatal metabolic syndrome"; "GARD:0000001", "OMIM:603358" . _:106c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death"; "OMIM:603358" . _:106cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death"; "GARD:0000001" . _:106ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lactic acidosis, Finnish, with hepatic hemosiderosis"; "OMIM:603358" . _:106cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:53693" . a owl:Class; rdfs:subClassOf , , ; "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis."; "ICD10:M11.2", "MedDRA:10059364", "OMIM:211900", "OMIM:610455", "UMLS:C0263628"; rdfs:label "Tumoral calcinosis" . a owl:Class; rdfs:subClassOf , , , ; "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.", "Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)."; ; "LAM"@en; "Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC)."@en; "orphanet", "orphanet"@en; "ICD-10:D48.7", "ICD10:J84.81", "ICD10:J98.4", "ICDO:9174/1", "MSH:D018192", "MeSH:D018192", "MedDRA:10049459", "NCIT:C3725", "OMIM:606690", "UMLS:C0751674"; "LAM", "lymphangioleiomyomatosis", "lymphangiomyomatosis"; "lung lymphangioleiomyomatosis", "pulmonary lymphangioleiomyomatosis"; "LAM", "lymphangio-myomatosis", "lymphangioleiomyomatosis; LAM"; "Orphanet:538"; , ; rdfs:label "Lymphangioleiomyomatosis", "Lymphangioleiomyomatosis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis"^^xsd:anyURI; "ORPHA:538" . _:106d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites."; "NCIT:C3725" . _:106d1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25322; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D48.7"; "Attributed"@en . _:106f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D48.7"; "NTBT (narrower term maps to a broader term)"@en . _:106f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:J84.81"; "MONDO:equivalentTo" . _:106f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:9174/1"; "NCIT:C3725" . _:106f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018192"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:106f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049459"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:106f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3725"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.70/0.66" . _:106fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606690"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:106fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751674"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:106fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangioleiomyomatosis"; "MONDO:Lexical", "NCIT:C3725", "OMIM:606690" . _:10700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangioleiomyomatosis"; rdfs:comment "preferred label from MONDO" . _:10701d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangiomyomatosis"; "CSP2005:4009-0064", "DOID:3319", "NCIT:C3725", "OMIM:606690" . _:10705d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lung lymphangioleiomyomatosis"; "DOID:3319" . _:10706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary lymphangioleiomyomatosis"; "DOID:3319" . _:10708d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAM"; "MONDO:Lexical", "OMIM:606690", "Orphanet:538" . _:1070ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangio-myomatosis"; "GARD:0003319" . _:1070bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphangioleiomyomatosis; LAM"; "OMIM:606690" . _:10710d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003319" . _:10712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:538" . _:10713d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis"^^xsd:anyURI; "GARD:0003319" . a owl:Class; rdfs:subClassOf , , , ; "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth."; , , , , , , , ; "Familial HLH"@en; "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth."@en; "orphanet", "orphanet"@en; "DOID:0110921", "ICD-10:D76.1", "ICD10:D76.1", "MONDO:0009974", "MedDRA:10070904", "NCIT:C61276", "OMIM:267700", "OMIM:603552", "OMIM:603553", "OMIM:608898", "OMIM:613101", "UMLS:C0272199", "UMLS:CN034020", "UMLS:CN205265"; "FHL1", "Familial HLH", "HLH1", "HPLH1", "familial HLH", "familial hemophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis type 1"; "Erythrophagocytic lymphohistiocytosis, familial", "Hlh1", "Hplh1", "familial hemophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis 1", "hemophagocytic lymphohistiocytosis, familial", "hemophagocytic lymphohistiocytosis, familial, 1", "hemophagocytic lymphohistiocytosis, familial, 1; FHL1", "hemophagocytic reticulosis, familial", "reticulosis, familial histiocytic"; "Orphanet:540"; , ; rdfs:comment "Editor note: type 1 split out"; rdfs:label "Familial hemophagocytic lymphohistiocytosis", "Familial hemophagocytic lymphohistiocytosis"@en; "ORPHA:540" . _:10725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth."; "Orphanet:540" . _:10726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110921"; "MONDO:equivalentTo" . _:10728d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25345; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25345 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D76.1"; "Attributed"@en . _:1072ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D76.1"; "NTBT (narrower term maps to a broader term)"@en . _:1072bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D76.1"; "ORDO:540/attributed", "ORDO:540/ntbt", "Orphanet:540" . _:1072ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070904"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1072fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070904"; "ORDO:540/e", "Orphanet:540" . _:10730d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61276"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.56" . _:10734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:267700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10736d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:267700"; "DOID:0110921", "MONDO:equivalentTo", "ORDO:540/e", "Orphanet:540" . _:10739d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603552"; "BTNT (broader term maps to a narrower term)"@en . _:1073bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603553"; "BTNT (broader term maps to a narrower term)"@en . _:1073cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608898"; "BTNT (broader term maps to a narrower term)"@en . _:1073ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613101"; "BTNT (broader term maps to a narrower term)"@en . _:1073fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0272199"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10740d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0272199"; "MONDO:equivalentTo", "NCIT:C61276", "OMIM:267700", "ORDO:540/e", "Orphanet:540" . _:10741d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN034020"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:10742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205265"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:10743d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHL1"; "DOID:0110921", "MONDO:Lexical", "OMIM:267700" . _:10744d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLH1"; "DOID:0110921" . _:10746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPLH1"; "DOID:0110921" . _:10748d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial HLH"; "Orphanet:540" . _:10749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hemophagocytic lymphohistiocytosis"; "NCIT:C61276" . _:1074ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hemophagocytic lymphohistiocytosis type 1"; "DOID:0110921", "MONDORULE:1" . _:1074cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hemophagocytic lymphohistiocytosis type 1"; rdfs:comment "preferred label from MONDO" . _:1074dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Erythrophagocytic lymphohistiocytosis, familial"; "OMIM:267700" . _:1074fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hlh1"; "OMIM:267700" . _:10750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hplh1"; "OMIM:267700" . _:10752d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hemophagocytic lymphohistiocytosis"; "NCIT:C61276" . _:10753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hemophagocytic lymphohistiocytosis 1"; "DOID:0110921" . _:10755d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophagocytic lymphohistiocytosis, familial"; "OMIM:267700" . _:10756d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophagocytic lymphohistiocytosis, familial, 1"; "MONDO:Lexical", "OMIM:267700" . _:10758d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophagocytic lymphohistiocytosis, familial, 1; FHL1"; "OMIM:267700" . _:10759d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophagocytic reticulosis, familial"; "OMIM:267700" . _:1075bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reticulosis, familial histiocytic"; "OMIM:267700" . _:1075cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:540" . a owl:Class; rdfs:subClassOf ; "Moschcowitz disease"@en, "TTP"@en; "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms)."@en; "orphanet"@en; "ICD-10:M31.1", "MeSH:D011697", "MedDRA:10043648", "OMIM:274150", "UMLS:C0034155"; rdfs:label "Thrombotic thrombocytopenic purpura"@en; "ORPHA:54057" . _:1075ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.1"; "NTBT (narrower term maps to a broader term)"@en . _:1075fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011697"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043648"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10761d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:274150"; "BTNT (broader term maps to a narrower term)"@en . _:10762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0034155"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Primary cutaneous Ki-1+ T-cell lymphoproliferative disease"@en; "ICD-10:C86.6", "MeSH:D054446", "MedDRA:10065863", "UMLS:C1301362", "UMLS:C1698767"; rdfs:label "Primary cutaneous CD30+ T-cell lymphoproliferative disease"@en; "ORPHA:541" . _:10763d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C86.6"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054446"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10765d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065863"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1301362"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1698767"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities."@en; "orphanet"@en; "MedDRA:10051708", "UMLS:C1276146", "UMLS:C1302772"; rdfs:label "Primary cutaneous lymphoma"@en; "ORPHA:542" . _:10768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10051708"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1076ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1276146"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1302772"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Aseptic abscesses syndrome"@en, "Aseptic systemic abscesses"@en, "Disseminated aseptic abscesses"@en; "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders."@en; "orphanet"@en; rdfs:label "Corticosteroid-sensitive aseptic abscess syndrome"@en; "ORPHA:54251" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events."; ; , , , , ; "LVNC"@en, "Left ventricular hypertrabeculation"@en, "Spongy myocardium"@en; "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events."@en; "orphanet", "orphanet"@en; "DOID:0060480", "GARD:0010985", "ICD-10:I42.8", "ICD10:I42.8", "MONDO:0018901", "NCIT:C99544", "OMIM:601493", "OMIM:601494", "OMIM:604169", "OMIM:609470", "OMIM:611878", "OMIM:613424", "OMIM:613426", "OMIM:615092", "OMIM:615373", "OMIM:615396", "OMIMPS:604169", "UMLS:C1960469", "UMLS:C4021133"; "LVNC", "Left ventricular hypertrabeculation", "Lv non-compaction syndrome", "Spongy myocardium", "left ventricular hypertrabeculation", "left ventricular non-compaction cardiomyopathy", "left ventricular non-compaction syndrome", "left ventricular noncompaction", "spongy myocardium"; "Orphanet:54260"; , ; rdfs:label "Left ventricular noncompaction", "Left ventricular noncompaction"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction"^^xsd:anyURI; "ORPHA:54260" . _:10777d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events."; "Orphanet:54260" . _:10778d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060480"; "MONDO:equivalentTo" . _:1077ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010985"; "MONDO:equivalentTo" . _:1077fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25396; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25396 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I42.8"; "Attributed"@en . _:10782d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I42.8"; "NTBT (narrower term maps to a broader term)"@en . _:10783d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I42.8"; "ORDO:54260/attributed", "ORDO:54260/ntbt", "Orphanet:54260" . _:10786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99544"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:10788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601493"; "NTBT (narrower term maps to a broader term)"@en . _:10789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601494"; "NTBT (narrower term maps to a broader term)"@en . _:1078ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604169"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1078cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609470"; "BTNT (broader term maps to a narrower term)"@en . _:1078fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611878"; "NTBT (narrower term maps to a broader term)"@en . _:10792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613424"; "NTBT (narrower term maps to a broader term)"@en . _:10794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613426"; "NTBT (narrower term maps to a broader term)"@en . _:10795d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615092"; "BTNT (broader term maps to a narrower term)"@en . _:10796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615373"; "BTNT (broader term maps to a narrower term)"@en . _:10798d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615396"; "BTNT (broader term maps to a narrower term)"@en . _:1079ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:604169"; "MONDO:cjm", "MONDO:equivalentTo" . _:1079bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1960469"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1079cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1960469"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "ORDO:54260/e", "Orphanet:54260" . _:1079dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4021133"; "MEDGEN:kboom-pr95-c98", "MONDO:equivalentTo" . _:1079ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LVNC"; "Orphanet:54260" . _:1079fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lv non-compaction syndrome"; "NCIT:C99544" . _:107a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "left ventricular hypertrabeculation"; "DOID:0060480", "Orphanet:54260" . _:107a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "left ventricular non-compaction cardiomyopathy"; "NCIT:C99544" . _:107a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "left ventricular non-compaction syndrome"; "NCIT:C99544" . _:107a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "left ventricular noncompaction"; rdfs:comment "preferred label from MONDO" . _:107a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spongy myocardium"; "Orphanet:54260" . _:107a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010985" . _:107a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:54260" . _:107a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction"^^xsd:anyURI; "GARD:0010985" . a owl:Class; rdfs:subClassOf ; "Small non-cleaved cell lymphoma"@en; "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma."@en; "orphanet"@en; "ICD-10:C83.7", "MeSH:D002051", "MeSH:D008228", "MedDRA:10006595", "MedDRA:10053518", "MedDRA:10067184", "OMIM:113970", "UMLS:C0006413", "UMLS:C0079770"; rdfs:label "Burkitt lymphoma"@en; "ORPHA:543" . _:107acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C83.7"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002051"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008228"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10006595"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053518"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067184"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:113970"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006413"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079770"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes."; , , , , , ; "MPGN"@en, "Mesangiocapillary glomerulonephritis"@en; "Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes."@en; "orphanet", "orphanet"@en; "COHD:433257", "GARD:0011982", "ICD-10:N00.5", "ICD10:N00.5", "ICD9:583.2", "MONDO:0018904", "MSH:D015432", "MeSH:D015432", "MedDRA:10018370", "NCIT:C34644", "OMIM:305800", "OMIM:609814", "OMIM:614809", "OMIM:615008", "SCTID:80321008", "UMLS:C0017662"; "MPGN", "Mesangiocapillary glomerulonephritis", "membranoproliferative glomerulonephritis", "primary membranoproliferative glomerulonephritis"; "membranoproliferative glomerulonephritis"; "Orphanet:54370"; ; rdfs:label "Primary membranoproliferative glomerulonephritis", "Primary membranoproliferative glomerulonephritis"@en; "ORPHA:54370" . _:107c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes."; "Orphanet:54370" . _:107c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:433257"; "MONDO:equivalentTo" . _:107c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011982"; "MONDO:equivalentTo", "Orphanet-shared" . _:107d1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25437; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25437 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N00.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:107d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N00.5"; "NTBT (narrower term maps to a broader term)"@en . _:107d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N00.5"; "ORDO:54370/inclusion", "ORDO:54370/ntbt", "Orphanet:54370" . _:107d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:583.2"; "MONDO:equivalentTo", "i2s" . _:107dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015432"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018370"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10018370"; "ORDO:54370/e", "Orphanet:54370" . _:107ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34644"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.08" . _:107dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:305800"; "BTNT (broader term maps to a narrower term)"@en . _:107e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609814"; "BTNT (broader term maps to a narrower term)"@en . _:107e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614809"; "BTNT (broader term maps to a narrower term)"@en . _:107e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615008"; "BTNT (broader term maps to a narrower term)"@en . _:107e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:80321008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.21" . _:107ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017662"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017662"; "MONDO:equivalentTo", "NCIT:C34644", "ORDO:54370/e", "Orphanet:54370" . _:107eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPGN"; "Orphanet:54370" . _:107f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mesangiocapillary glomerulonephritis"; "Orphanet:54370" . _:107f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "membranoproliferative glomerulonephritis"; "NCIT:C34644" . _:107f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary membranoproliferative glomerulonephritis"; rdfs:comment "preferred label from MONDO" . _:107f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "membranoproliferative glomerulonephritis"; "NCIT:C34644" . _:107f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:54370" . a owl:Class; rdfs:subClassOf ; "DLBCL"@en; "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common."@en; "orphanet"@en; "ICD-10:C83.3", "MeSH:D016403", "MedDRA:10012818", "UMLS:C0079744"; rdfs:label "Diffuse large B-cell lymphoma"@en; "ORPHA:544" . _:107fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C83.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:107fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016403"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10012818"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079744"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved."@en; "orphanet"@en; "ICD-10:C82.0", "ICD-10:C82.1", "ICD-10:C82.2", "ICD-10:C82.3", "ICD-10:C82.4", "ICD-10:C82.5", "ICD-10:C82.6", "ICD-10:C82.7", "ICD-10:C82.9", "MeSH:D008224", "OMIM:613024", "UMLS:C0024301"; rdfs:label "Follicular lymphoma"@en; "ORPHA:545" . _:10805d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.0"; "BTNT (broader term maps to a narrower term)"@en . _:10806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.1"; "BTNT (broader term maps to a narrower term)"@en . _:10807d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.2"; "BTNT (broader term maps to a narrower term)"@en . _:10827d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.3"; "BTNT (broader term maps to a narrower term)"@en . _:10828d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.4"; "BTNT (broader term maps to a narrower term)"@en . _:1082ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.5"; "BTNT (broader term maps to a narrower term)"@en . _:1082cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.6"; "BTNT (broader term maps to a narrower term)"@en . _:1082ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.7"; "BTNT (broader term maps to a narrower term)"@en . _:10830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C82.9"; "BTNT (broader term maps to a narrower term)"@en . _:10837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008224"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1083ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613024"; "BTNT (broader term maps to a narrower term)"@en . _:1083cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024301"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "NHL"@en; "Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system."@en; "orphanet"@en; "MeSH:D008228", "MedDRA:10029547", "OMIM:605027", "UMLS:C0024305"; rdfs:label "Non-Hodgkin lymphoma"@en; "ORPHA:547" . _:1083dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008228"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1083ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029547"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1083fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605027"; "BTNT (broader term maps to a narrower term)"@en . _:10840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024305"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Legionnaires disease"@en; "Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia."@en; "orphanet"@en; "ICD-10:A48.1", "MeSH:D007876", "MeSH:D007877", "MedDRA:10035718", "MedDRA:10061266", "UMLS:C0023240", "UMLS:C0023241"; rdfs:label "Legionellosis"@en; "ORPHA:549" . _:10841d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:A48.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D007876"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10843d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D007877"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10847d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10035718"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10849d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061266"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1084bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023240"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1084dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023241"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes."; , , , , , , ; "Maturity-onset diabetes of the young"@en; "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes."@en; "orphanet", "orphanet"@en; "DOID:0050524", "GARD:0003697", "HP:0004904", "ICD-10:E11.9", "ICD10:E11.8", "ICD10:E11.9", "KEGG:04950", "MESH:C562772", "MONDO:0018911", "NCIT:C114769", "OMIM:125850", "OMIM:125851", "OMIM:600496", "OMIM:606391", "OMIM:606392", "OMIM:606394", "OMIM:609812", "OMIM:610508", "OMIM:612225", "OMIM:613370", "OMIM:613375", "OMIM:616329", "OMIM:616511", "SCTID:609561005", "UMLS:C0342276"; "MODY", "Mason-type diabetes", "Maturity-onset diabetes of the young", "maturity onset diabetes of the young", "maturity-onset diabetes of the young", "maturity-onset diabetes of the young (disease)"; "Mason type diabetes", "maturity-onset diabetes of the young; MODY"; "Orphanet:552"; ; rdfs:comment "Maturity onset diabetes of the young (MODY) MODY is a rare form of diabetes which is different from both Type 1 and Type 2 diabetes, and runs strongly in families. MODY is caused by a mutation (or change) in a single gene. (https://www.diabetes.org.uk/Diabetes-the-basics/Other-types-of-diabetes/MODY/)"; rdfs:label "MODY", "MODY"@en; "ORPHA:552" . _:1085bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes."; "Orphanet:552" . _:1085cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050524"; "MONDO:equivalentTo" . _:1085dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003697"; "MONDO:equivalentTo", "OMIM-shared" . _:1085ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0004904"; "MONDO:otherHierarchy", "ontobio" . _:10860d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25490; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25490 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E11.9"; "Attributed"@en . _:10861d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E11.9"; "NTBT (narrower term maps to a broader term)"@en . _:10862d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E11.8"; "DOID:0050524" . _:10864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E11.9"; "ORDO:552/attributed", "ORDO:552/ntbt", "Orphanet:552" . _:10867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEGG:04950"; "DOID:0050524", "MONDO:equivalentTo" . _:10868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562772"; "MONDO:equivalentTo", "MONDO:ontobio" . _:1086ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C114769"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.20" . _:1086cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:125850"; "BTNT (broader term maps to a narrower term)"@en . _:1086dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:125851"; "BTNT (broader term maps to a narrower term)"@en . _:1086ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600496"; "BTNT (broader term maps to a narrower term)"@en . _:1086fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606391"; "BTNT (broader term maps to a narrower term)"@en . _:10872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606391"; "DOID:0050524", "MONDO:equivalentTo", "ORDO:552/btnt", "Orphanet:552" . _:10875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606392"; "BTNT (broader term maps to a narrower term)"@en . _:10877d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606394"; "BTNT (broader term maps to a narrower term)"@en . _:10878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609812"; "BTNT (broader term maps to a narrower term)"@en . _:10879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610508"; "BTNT (broader term maps to a narrower term)"@en . _:1087ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612225"; "BTNT (broader term maps to a narrower term)"@en . _:1087bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613370"; "BTNT (broader term maps to a narrower term)"@en . _:1087cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613375"; "BTNT (broader term maps to a narrower term)"@en . _:1087dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616329"; "BTNT (broader term maps to a narrower term)"@en . _:1087ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616329"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1087fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616511"; "BTNT (broader term maps to a narrower term)"@en . _:10880d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616511"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10881d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:609561005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:10882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342276"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10884d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342276"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C114769", "OMIM:606391", "Orphanet:552" . _:1088bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MODY"; "DOID:0050524", "MONDO:Lexical", "OMIM:606391" . _:1088dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mason-type diabetes"; "DOID:0050524" . _:1088fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "maturity onset diabetes of the young"; "NCIT:C114769" . _:10891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "maturity-onset diabetes of the young"; "MONDO:Lexical", "MONDO:ambiguous", "OMIM:606391", "Orphanet:552" . _:10892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "maturity-onset diabetes of the young (disease)"; rdfs:comment "preferred label from MONDO" . _:10893d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mason type diabetes"; "GARD:0003697" . _:10894d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "maturity-onset diabetes of the young; MODY"; "OMIM:606391" . _:10895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:552" . a owl:Class; rdfs:subClassOf ; "Cushing's syndrome"@en, "Hyperadrenocorticism"@en, "Hypercortisolism"@en; "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin."@en; "orphanet"@en; "ICD-10:E24.0", "ICD-10:E24.1", "ICD-10:E24.2", "ICD-10:E24.3", "ICD-10:E24.4", "ICD-10:E24.8", "ICD-10:E24.9", "MeSH:D000308", "MeSH:D003480", "MedDRA:10011652", "MedDRA:10020562", "MedDRA:10020564", "MedDRA:10020610", "UMLS:C0001622", "UMLS:C0010481"; rdfs:label "Cushing syndrome"@en; "ORPHA:553" . _:10896d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.0"; "BTNT (broader term maps to a narrower term)"@en . _:10897d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.1"; "BTNT (broader term maps to a narrower term)"@en . _:10898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.2"; "BTNT (broader term maps to a narrower term)"@en . _:10899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.3"; "BTNT (broader term maps to a narrower term)"@en . _:1089ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.4"; "BTNT (broader term maps to a narrower term)"@en . _:1089bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.8"; "BTNT (broader term maps to a narrower term)"@en . _:1089cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.9"; "BTNT (broader term maps to a narrower term)"@en . _:1089dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000308"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1089ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D003480"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1089fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011652"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020562"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020564"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10020610"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001622"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010481"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls."; ; ; "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls."@en; "orphanet"@en; "ICD-10:Q42.0", "ICD-10:Q42.1", "ICD-10:Q42.2", "ICD-10:Q42.3", "ICD10:Q42.0", "ICD10:Q42.1", "ICD10:Q42.2", "ICD10:Q42.3", "MONDO:0018916", "MSH:C537771", "MeSH:C537771", "OMIM:107100", "OMIM:207500", "OMIM:301800", "UMLS:C3495676"; "isolated anorectal malformation", "nonsyndromic anorectal malformation"; "Orphanet:557"; ; rdfs:label "Isolated anorectal malformation", "Isolated anorectal malformation"@en; "ORPHA:557" . _:108abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls."; "Orphanet:557" . _:108aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.0"; "Specific code (The term has its own code in the ICD10)"@en . _:108b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108b6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25544; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25544 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.1"; "Specific code (The term has its own code in the ICD10)"@en . _:108bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.2"; "Specific code (The term has its own code in the ICD10)"@en . _:108c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q42.3"; "Specific code (The term has its own code in the ICD10)"@en . _:108c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q42.0"; "ORDO:557/e", "ORDO:557/specific", "Orphanet:557" . _:108c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q42.1"; "ORDO:557/e", "ORDO:557/specific", "Orphanet:557" . _:108c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q42.2"; "ORDO:557/e", "ORDO:557/specific", "Orphanet:557" . _:108c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q42.3"; "ORDO:557/e", "ORDO:557/specific", "Orphanet:557" . _:108cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537771"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:107100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:207500"; "BTNT (broader term maps to a narrower term)"@en . _:108e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301800"; "BTNT (broader term maps to a narrower term)"@en . _:108e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495676"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated anorectal malformation"; rdfs:comment "preferred label from MONDO" . _:108e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic anorectal malformation"; "MONDO:patterns/isolated" . _:108ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:557" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new ( de novo ) mutation. Treatment is based on the signs and symptoms in each person.", "Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations."; , , ; , , , , , , , , , ; "Contractural arachnodactyly"; "MFS"@en; "Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations."@en; "orphanet", "orphanet"@en; "true"; "COHD:258540", "DOID:14323", "GARD:0006975", "ICD-10:Q87.4", "ICD10:Q87.4", "ICD10:Q87.40", "ICD9:759.82", "MESH:D008382", "MONDO:0007947", "MSH:D008382", "MeSH:D008382", "MedDRA:10026829", "NCIT:C34807", "OMIM:154700", "OMIM:610168", "Orphanet:284963", "SCTID:19346006", "UMLS:C0024796", "UMLS:CN202883"; "MFS", "MFS1", "Marfan syndrome", "Marfan's syndrome"; "Marfan syndrome type 1", "Marfan syndrome, type 1", "Marfan syndrome; MFS"; "Orphanet:558"; , , , , ; rdfs:label "Marfan syndrome", "Marfan syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome"^^xsd:anyURI; "ORPHA:558" . _:108f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new ( de novo ) mutation. Treatment is based on the signs and symptoms in each person."; "https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome" . _:108f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Contractural arachnodactyly"; "GARD:0006975" . _:108f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:258540"; "MONDO:equivalentTo" . _:108f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14323"; "MONDO:equivalentTo" . _:108f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006975"; "MONDO:equivalentTo" . _:108f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:108f8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25568; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25568 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.4"; "Specific code (The term has its own code in the ICD10)"@en . _:108fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.4"; "DOID:14323", "ORDO:284963/attributed", "ORDO:284963/ntbt", "ORDO:558/e", "ORDO:558/specific", "Orphanet:284963", "Orphanet:558" . _:108fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.40"; "DOID:14323" . _:10900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.82"; "DOID:14323", "MONDO:equivalentTo", "i2s" . _:10903d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008382"; "DOID:14323", "MONDO:equivalentTo", "ORDO:558/e", "Orphanet:558" . _:10906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008382"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10908d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10026829"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1090ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10026829"; "ORDO:558/e", "Orphanet:558" . _:1090cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34807"; "DOID:14323", "MONDO:equivalentTo" . _:1090ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154700"; "BTNT (broader term maps to a narrower term)"@en . _:1090fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154700"; "DOID:14323", "MONDO:equivalentTo", "ORDO:284963/e", "ORDO:558/btnt", "Orphanet:284963", "Orphanet:558" . _:10911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610168"; "NTBT (narrower term maps to a broader term)"@en . _:10912d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:284963"; "MONDO:equivalentTo", "OMIM:154700" . _:10914d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:19346006"; "DOID:14323", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.45" . _:10915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024796"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024796"; "DOID:14323", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C34807", "OMIM:154700", "ORDO:558/e", "Orphanet:558" . _:10918d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN202883"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:10919d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MFS"; "MONDO:Lexical", "OMIM:154700", "Orphanet:558" . _:1091bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MFS1"; "Orphanet:284963" . _:1091cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marfan syndrome"; "MONDO:Lexical", "OMIM:154700" . _:1091dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marfan syndrome"; rdfs:comment "preferred label from MONDO" . _:1091ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marfan's syndrome"; "DOID:14323" . _:1091fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marfan syndrome type 1"; "Orphanet:284963" . _:10920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marfan syndrome, type 1"; "OMIM:154700" . _:10921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marfan syndrome; MFS"; "OMIM:154700" . _:10923d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006975" . _:10928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:284963" . _:10930d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:558" . _:10932d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://github.com/monarch-initiative/monarch-disease-ontology/issues/101" . _:10937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome"^^xsd:anyURI; "GARD:0006975" . a owl:Class; rdfs:subClassOf ; "Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection."@en; "orphanet"@en; "ICD-10:C49.9", "MeSH:D002813", "MedDRA:10008734", "OMIM:215300", "UMLS:C0008479"; rdfs:label "Chondrosarcoma"@en; "ORPHA:55880" . _:1093bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C49.9"; "NTBT (narrower term maps to a broader term)"@en . _:1093dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002813"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1093fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008734"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10941d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:215300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10942d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008479"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Carcinoma of gallbladder and EBT"@en; "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites."@en; "orphanet"@en; "MedDRA:10007426", "UMLS:C0153452", "UMLS:C0235782"; rdfs:label "Carcinoma of gallbladder and extrahepatic biliary tract"@en; "ORPHA:56044" . _:10943d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10007426"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10944d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0153452"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10945d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0235782"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , ; "Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele (see this term), large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate (see these terms), cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia."; , , , ; , , , , ; "Meckel-Gruber syndrome"@en; "Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia."@en; "orphanet"@en; "DOID:0050778", "GARD:0003436", "ICD-10:Q61.9", "ICD10:Q61.9", "ICD9:753.1", "ICD9:753.10", "ICD9:759.89", "MONDO:0018921", "NCIT:C98978", "OMIM:249000", "OMIM:603194", "OMIM:607361", "OMIM:609345", "OMIM:611134", "OMIM:611561", "OMIM:612284", "OMIM:613885", "OMIM:614175", "OMIM:614209", "OMIM:615397", "OMIM:616258", "OMIM:617562", "OMIMPS:249000", "SCTID:29076005", "UMLS:C0265215"; "Meckel syndrome", "Meckel-Gruber syndrome"; "Orphanet:564"; ; rdfs:label "Meckel syndrome", "Meckel syndrome"@en; "ORPHA:564" . _:1097bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele (see this term), large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate (see these terms), cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia."; "Orphanet:564" . _:1097cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050778"; "MONDO:equivalentTo" . _:1097ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003436"; "MONDO:equivalentTo", "Orphanet-shared" . _:10981d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25610; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25610 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.9"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.9"; "NTBT (narrower term maps to a broader term)"@en . _:10985d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.9"; "ORDO:564/inclusion", "ORDO:564/ntbt", "Orphanet:564" . _:10987d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:753.1"; "DOID:0050778" . _:10989d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:753.10"; "DOID:0050778" . _:1098bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:1098ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98978"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.74/1.29" . _:10992d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:249000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603194"; "BTNT (broader term maps to a narrower term)"@en . _:10994d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607361"; "BTNT (broader term maps to a narrower term)"@en . _:10995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609345"; "BTNT (broader term maps to a narrower term)"@en . _:10996d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611134"; "BTNT (broader term maps to a narrower term)"@en . _:10999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611561"; "BTNT (broader term maps to a narrower term)"@en . _:1099cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612284"; "BTNT (broader term maps to a narrower term)"@en . _:1099dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613885"; "BTNT (broader term maps to a narrower term)"@en . _:1099fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614209"; "BTNT (broader term maps to a narrower term)"@en . _:109a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615397"; "BTNT (broader term maps to a narrower term)"@en . _:109a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616258"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:109a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617562"; "BTNT (broader term maps to a narrower term)"@en . _:109a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617562"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:109aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:249000"; "MONDO:cjm", "MONDO:equivalentTo" . _:109abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:29076005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.74/1.52" . _:109add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265215"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265215"; "MONDO:equivalentTo", "NCIT:C98978", "ORDO:564/e", "Orphanet:564" . _:109afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel syndrome"; rdfs:comment "preferred label from MONDO" . _:109b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Meckel-Gruber syndrome"; "DOID:0050778", "Orphanet:564" . _:109b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:564" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , ; "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency."; , , , , , , , , ; "22q11DS"@en, "CATCH 22"@en, "Cayler cardiofacial syndrome"@en, "Conotruncal anomaly face syndrome"@en, "DiGeorge sequence"@en, "DiGeorge syndrome"@en, "Microdeletion 22q11.2"@en, "Monosomy 22q11"@en, "Sedlackova syndrome"@en, "Shprintzen syndrome"@en, "Takao syndrome"@en, "Velocardiofacial syndrome"@en; "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency."@en; "orphanet", "orphanet"@en; "GARD:0010299", "ICD-10:D82.1", "ICD10:D82.1", "MONDO:0018923", "MSH:D058165", "MeSH:D058165", "MedDRA:10012979", "MedDRA:10066430", "OMIM:188400", "OMIM:192430", "UMLS:C0012236", "UMLS:C0220704", "UMLS:C0431406", "UMLS:C0795907", "UMLS:C2936346", "UMLS:C3266101"; "22q11.2 deletion syndrome", "22q11DS", "CATCH 22", "Cayler cardiofacial syndrome", "Conotruncal anomaly face syndrome", "DiGeorge sequence", "DiGeorge syndrome", "Microdeletion 22q11.2", "Monosomy 22q11", "Sedlackova syndrome", "Shprintzen syndrome", "Takao syndrome", "Velocardiofacial syndrome", "catch 22", "conotruncal anomaly face syndrome", "microdeletion 22q11.2", "monosomy 22q11", "velocardiofacial syndrome"; "VCFS"; "Orphanet:567"; ; rdfs:label "22q11.2 deletion syndrome", "22q11.2 deletion syndrome"@en; "ORPHA:567" . _:109c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency."; "Orphanet:567" . _:109c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010299"; "MONDO:equivalentTo", "Orphanet-shared" . _:109c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109c5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25641; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25641 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.1"; "Specific code (The term has its own code in the ICD10)"@en . _:109c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D82.1"; "ORDO:567/e", "ORDO:567/specific", "Orphanet:567" . _:109c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058165"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10012979"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10012979"; "ORDO:567/e", "Orphanet:567" . _:109cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066430"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066430"; "ORDO:567/e", "Orphanet:567" . _:109ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188400"; "BTNT (broader term maps to a narrower term)"@en . _:109cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:192430"; "BTNT (broader term maps to a narrower term)"@en . _:109d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0012236"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0220704"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0431406"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0795907"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936346"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3266101"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:109ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "22q11.2 deletion syndrome"; rdfs:comment "preferred label from MONDO" . _:109dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "22q11DS"; "Orphanet:567" . _:109e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cayler cardiofacial syndrome"; "Orphanet:567" . _:109e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DiGeorge sequence"; "Orphanet:567" . _:109e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DiGeorge syndrome"; "Orphanet:567" . _:109e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sedlackova syndrome"; "Orphanet:567" . _:109e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shprintzen syndrome"; "Orphanet:567" . _:109ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Takao syndrome"; "Orphanet:567" . _:109ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "catch 22"; "Orphanet:567" . _:109edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conotruncal anomaly face syndrome"; "Orphanet:567" . _:109eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microdeletion 22q11.2"; "Orphanet:567" . _:109f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy 22q11"; "Orphanet:567" . _:109f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "velocardiofacial syndrome"; "Orphanet:567" . _:109f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VCFS"; "GARD:0010299" . _:109f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:567" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).", "Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)."; , ; ; "Lenz microphthalmia"@en; "Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)."@en; "orphanet", "orphanet"@en; "GARD:0000087", "ICD-10:Q11.2", "ICD10:Q11.2", "MONDO:0018924", "OMIM:300166", "OMIM:309800", "UMLS:C0796016"; "Lenz microphthalmia", "microphthalmia, Lenz type"; "Lenz dysplasia", "MAA (formerly)", "MCOPS1", "microphthalmia Lenz type", "microphthalmia or anophthalmos with associated anomalies (formerly)", "microphthalmia syndromic 1", "syndromic microphthalmia type 1"; "Orphanet:568"; , ; rdfs:comment "Editors note: TODO check"; rdfs:label "Microphthalmia, Lenz type", "Microphthalmia, Lenz type"@en; "ORPHA:568" . _:10a08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)."; "Orphanet:568" . _:10a09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:568" . _:10a0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000087"; "MONDO:equivalentTo" . _:10a0bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25675; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25675 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.2"; "Attributed"@en . _:10a0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.2"; "NTBT (narrower term maps to a broader term)"@en . _:10a16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q11.2"; "ORDO:568/attributed", "ORDO:568/ntbt", "Orphanet:568" . _:10a17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300166"; "NTBT (narrower term maps to a broader term)"@en . _:10a1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:309800"; "BTNT (broader term maps to a narrower term)"@en . _:10a1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796016"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10a1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lenz microphthalmia"; "Orphanet:568" . _:10a21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia, Lenz type"; rdfs:comment "preferred label from MONDO" . _:10a23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lenz dysplasia"; "GARD:0000087" . _:10a24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAA (formerly)"; "GARD:0000087" . _:10a27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCOPS1"; "GARD:0000087" . _:10a28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia Lenz type"; "GARD:0000087" . _:10a2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia or anophthalmos with associated anomalies (formerly)"; "GARD:0000087" . _:10a2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microphthalmia syndromic 1"; "GARD:0000087" . _:10a30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic microphthalmia type 1"; "GARD:0000087" . _:10a31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:568" . a owl:Class; rdfs:subClassOf , , , ; "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)."; ; "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)."@en; "orphanet"@en; "ICD-10:G43.1", "ICD10:G43.1", "MONDO:0018925", "OMIM:141500", "OMIM:602481", "OMIM:607516", "OMIM:609634"; "familial or sporadic hemiplegic migraine"; "Orphanet:569"; ; rdfs:label "Familial or sporadic hemiplegic migraine", "Familial or sporadic hemiplegic migraine"@en; "ORPHA:569" . _:10a39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)."; "Orphanet:569" . _:10a3ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25693; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25693 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G43.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10a3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G43.1"; "NTBT (narrower term maps to a broader term)"@en . _:10a3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G43.1"; "ORDO:569/inclusion", "ORDO:569/ntbt", "Orphanet:569" . _:10a3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:141500"; "BTNT (broader term maps to a narrower term)"@en . _:10a3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602481"; "BTNT (broader term maps to a narrower term)"@en . _:10a40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607516"; "NTBT (narrower term maps to a broader term)"@en . _:10a42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609634"; "BTNT (broader term maps to a narrower term)"@en . _:10a44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial or sporadic hemiplegic migraine"; rdfs:comment "preferred label from MONDO" . _:10a46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:569" . a owl:Class; rdfs:subClassOf ; "TSE"@en, "Transmissible spongiform encephalopathy"@en; "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD; see this term) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease (see these terms). Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)."@en; "orphanet"@en; "ICD-10:A81.0", "ICD-10:A81.1", "ICD-10:A81.8", "ICD-10:A81.9", "UMLS:C0162534"; rdfs:label "Human prion disease"@en; "ORPHA:56970" . _:10a48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:A81.0"; "BTNT (broader term maps to a narrower term)"@en . _:10a49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:A81.1"; "BTNT (broader term maps to a narrower term)"@en . _:10a4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:A81.8"; "BTNT (broader term maps to a narrower term)"@en . _:10a4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:A81.9"; "BTNT (broader term maps to a narrower term)"@en . _:10a4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162534"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare hepatic disease"@en; "ORPHA:57146" . a owl:Class; rdfs:subClassOf , ; "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood."; , , , , , , ; , , , , , , ; ; "Bare lymphocyte syndrome type 2"@en, "MHC class II deficiency"@en; "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood."@en; "orphanet"@en; "DOID:5812", "GARD:0000824", "ICD-10:D81.7", "ICD10:D81.6", "ICD10:D81.7", "MESH:C537079", "MONDO:0008855", "NCIT:C3895", "OMIM:209920", "SCTID:71904008", "UMLS:C2931418", "UMLS:CN239286"; "BLSII", "Bare lymphocyte syndrome type 2", "HLA class 2-negative SCID", "HLA class 2-negative severe combined immunodeficiency", "MHC class II deficiency", "MHC class II expression deficiency", "SCID due to absent class II HLA antigens", "bare lymphocyte syndrome type II", "immunodeficiency by defective expression of HLA class type 2", "major histocompatibility complex class II expression deficiency"; "BARE lymphocyte syndrome", "BARE lymphocyte syndrome, type II", "BARE lymphocyte syndrome, type II, complementation group B, included", "BARE lymphocyte syndrome, type II, complementation group C, included", "BARE lymphocyte syndrome, type II, complementation group D, included", "BARE lymphocyte syndrome, type II, complementation group E, included", "BLS", "BLS 2", "BLS type II", "BLS, type II", "Bare lymphocyte syndrome", "Bare lymphocyte syndrome 2", "Bare lymphocyte syndrome, type 2", "Bare lymphocyte syndrome, type II", "Bare lymphocyte syndrome, type II, complementation group A", "Bare lymphocyte syndrome, type II, complementation group B", "Bare lymphocyte syndrome, type II, complementation group C", "Bare lymphocyte syndrome, type II, complementation group D", "Bare lymphocyte syndrome, type II, complementation group E", "Bls, type 2", "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included", "SCID, HLA Class 2-negative", "SCID, HLA Class II-negative", "immunodeficiency by defective expression of HLA class 2", "severe combined immunodeficiency, HLA Class II-negative", "severe combined immunodeficiency, HLA class ii-negative"; "Orphanet:572"; , ; rdfs:label "Immunodeficiency by defective expression of HLA class 2", "Immunodeficiency by defective expression of MHC class II"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2"^^xsd:anyURI; "ORPHA:572" . _:10a52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood."; "Orphanet:572" . _:10a53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:5812", "https://github.com/monarch-initiative/mondo-build/issues/108" . _:10a55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:5812"; "MONDO:equivalentTo" . _:10a56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000824"; "MONDO:equivalentTo" . _:10a5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.7"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10a5bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25713; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25713 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.7"; "Specific code (The term has its own code in the ICD10)"@en . _:10a5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.6"; "DOID:5812" . _:10a5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.7"; "ORDO:572/e", "ORDO:572/specific", "Orphanet:572" . _:10a5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537079"; "MONDO:equivalentTo" . _:10a5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3895"; "DOID:5812", "MONDO:equivalentTo" . _:10a60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209920"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10a62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209920"; "DOID:5812", "GARD:0000824", "MONDO:equivalentTo", "ORDO:572/e", "Orphanet:572" . _:10a6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:71904008"; "DOID:5812", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.76/8.53" . _:10a6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931418"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10a6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239286"; "MONDO:equivalentTo" . _:10a6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLSII"; "DOID:5812" . _:10a70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome type 2"; "GARD:0000824", "MESH:C537079", "Orphanet:572" . _:10a71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLA class 2-negative SCID"; "Orphanet:572" . _:10a74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLA class 2-negative severe combined immunodeficiency"; "Orphanet:572" . _:10a75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHC class II deficiency"; rdfs:comment "preferred label from MONDO" . _:10a76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHC class II expression deficiency"; "Orphanet:572" . _:10a77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID due to absent class II HLA antigens"; "DOID:5812" . _:10a78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bare lymphocyte syndrome type II"; "CSP2005:1560-6660", "DOID:5812" . _:10a7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency by defective expression of HLA class type 2"; "MONDORULE:1", "Orphanet:572" . _:10a81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "major histocompatibility complex class II expression deficiency"; "Orphanet:572" . _:10a83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BARE lymphocyte syndrome"; "MESH:C537079" . _:10a85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BARE lymphocyte syndrome, type II"; "OMIM:209920" . _:10a86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BARE lymphocyte syndrome, type II, complementation group B, included"; "MESH:C537079" . _:10a87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BARE lymphocyte syndrome, type II, complementation group C, included"; "MESH:C537079" . _:10a8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BARE lymphocyte syndrome, type II, complementation group D, included"; "MESH:C537079" . _:10a90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BARE lymphocyte syndrome, type II, complementation group E, included"; "MESH:C537079" . _:10a92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLS"; "MESH:C537079" . _:10a93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLS 2"; "GARD:0000824" . _:10a95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLS type II"; "MESH:C537079" . _:10a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLS, type II"; "MESH:C537079" . _:10acbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome"; "OMIM:209920" . _:10acfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome 2"; "GARD:0000824" . _:10ad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome, type 2"; "OMIM:209920" . _:10ad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome, type II"; "MESH:C537079" . _:10ad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome, type II, complementation group A"; "OMIM:209920" . _:10ad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome, type II, complementation group B"; "OMIM:209920" . _:10ad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome, type II, complementation group C"; "OMIM:209920" . _:10ad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome, type II, complementation group D"; "OMIM:209920" . _:10ad9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bare lymphocyte syndrome, type II, complementation group E"; "OMIM:209920" . _:10adad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bls, type 2"; "OMIM:209920" . _:10addd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included"; "MESH:C537079" . _:10adfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID, HLA Class 2-negative"; "GARD:0000824", "MESH:C537079" . _:10ae3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCID, HLA Class II-negative"; "MESH:C537079", "OMIM:209920" . _:10ae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency by defective expression of HLA class 2"; "Orphanet:572" . _:10ae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency, HLA Class II-negative"; "OMIM:209920" . _:10ae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency, HLA class ii-negative"; "GARD:0000824", "MESH:C537079" . _:10ae9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:572" . _:10aead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2"^^xsd:anyURI; "GARD:0000824" . a owl:Class; rdfs:subClassOf , , , ; "Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)."; , , , , , , , ; "Neutrophilic urticaria"@en; "Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)."@en; "orphanet", "orphanet"@en; "DOID:0050854", "GARD:0008472", "ICD-10:E85.0", "ICD10:E85.0", "ICD9:708.8", "MONDO:0008633", "MedDRA:10064569", "NCIT:C119054", "OMIM:191900", "SCTID:402417009", "UMLS:C0268390", "UMLS:C1304205"; "Muckle-Wells syndrome", "Neutrophilic urticaria", "neutrophilic urticaria"; "Cryopyrin-associated periodic syndrome 2", "MUCKLE-Wells syndrome; MWS", "MWS", "Muckle Wells syndrome", "Uda syndrome", "urticaria, deafness and amyloidosis", "urticaria-deafness-amyloidosis syndrome"; "Orphanet:575"; ; rdfs:label "Muckle-Wells syndrome", "Muckle-Wells syndrome"@en; "ORPHA:575" . _:10af5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)."; "Orphanet:575" . _:10af6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050854"; "MONDO:equivalentTo" . _:10af8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008472"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:10af9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25765; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25765 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.0"; "Attributed"@en . _:10afbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.0"; "NTBT (narrower term maps to a broader term)"@en . _:10afcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E85.0"; "ORDO:575/attributed", "ORDO:575/ntbt", "Orphanet:575" . _:10affd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:708.8"; "MONDO:relatedTo", "i2s" . _:10b01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064569"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064569"; "ORDO:575/e", "Orphanet:575" . _:10b05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C119054"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.86/0.31" . _:10b07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:191900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:191900"; "MONDO:equivalentTo", "ORDO:575/e", "Orphanet:575" . _:10b0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:402417009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.11" . _:10b0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268390"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268390"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C119054", "OMIM:191900", "ORDO:575/e", "Orphanet:575" . _:10b0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1304205"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:10b10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Muckle-Wells syndrome"; "MONDO:Lexical", "OMIM:191900" . _:10b12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Muckle-Wells syndrome"; rdfs:comment "preferred label from MONDO" . _:10b13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutrophilic urticaria"; "Orphanet:575" . _:10b14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cryopyrin-associated periodic syndrome 2"; "OMIM:191900" . _:10b16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MUCKLE-Wells syndrome; MWS"; "OMIM:191900" . _:10b17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MWS"; "MONDO:Lexical", "OMIM:191900" . _:10b1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Muckle Wells syndrome"; "GARD:0008472" . _:10b1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Uda syndrome"; "OMIM:191900" . _:10b1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urticaria, deafness and amyloidosis"; "GARD:0008472" . _:10b20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urticaria-deafness-amyloidosis syndrome"; "OMIM:191900" . _:10b21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:575" . a owl:Class; rdfs:subClassOf , , , , , , ; "Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.", "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)."; , ; , , , , , , , ; "Alpha-L-iduronidase deficiency"@en, "MPS1"@en, "MPSI"@en, "Mucopolysaccharidosis type I"@en; "Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype."@en; "orphanet", "orphanet"@en; "DOID:12802", "GARD:0010335", "ICD-10:E76.0", "ICD10:E76.0", "MONDO:0001586", "MSH:D008059", "MeSH:D008059", "MedDRA:10056886", "NCIT:C85053", "OMIM:607014", "OMIM:607015", "OMIM:607016", "SCTID:75610003", "UMLS:C0023786", "UMLS:C2713321"; "Alpha-L-iduronidase deficiency", "Hurler syndrome", "Hurler-Scheie syndrome", "MPS I - Hurler syndrome", "MPS1", "MPSI", "Mucopolysaccharidosis type I", "iduronidase deficiency disease", "lipochondrodystrophy", "mucopolysaccharidosis type 1", "mucopolysaccharidosis type I", "mucopolysaccharidosis, MPS-I", "mucopolysaccharidosis, type 1"; "Hurler syndrome (subtype)", "Hurler-Scheie syndrome (subtype)", "IDUA deficiency", "MPS 1", "MPS I", "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)", "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)", "mucopolysaccharidosis I", "severe MPS I (subtype, also known as Hurler syndrome)"; "Orphanet:579"; ; rdfs:label "Mucopolysaccharidosis type 1", "Mucopolysaccharidosis type 1"@en; "ORPHA:579" . _:10b22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)."; "NCIT:P378" . _:10b23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12802"; "MONDO:equivalentTo" . _:10b24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010335"; "MONDO:equivalentTo", "Orphanet-shared" . _:10b25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b26d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25794; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25794 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.0"; "Specific code (The term has its own code in the ICD10)"@en . _:10b27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E76.0"; "DOID:12802", "ORDO:579/e", "ORDO:579/specific", "Orphanet:579" . _:10b28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008059"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056886"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056886"; "ORDO:579/e", "Orphanet:579" . _:10b2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85053"; "DOID:12802", "MONDO:equivalentTo" . _:10b2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607014"; "BTNT (broader term maps to a narrower term)"@en . _:10b2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607015"; "BTNT (broader term maps to a narrower term)"@en . _:10b2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607016"; "BTNT (broader term maps to a narrower term)"@en . _:10b2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75610003"; "DOID:12802", "MONDO:equivalentTo" . _:10b30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023786"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2713321"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-L-iduronidase deficiency"; "Orphanet:579" . _:10b33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hurler syndrome"; "DOID:12802" . _:10b34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hurler-Scheie syndrome"; "DOID:12802" . _:10b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS I - Hurler syndrome"; "DOID:12802" . _:10b36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS1"; "Orphanet:579" . _:10b37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPSI"; "Orphanet:579" . _:10b38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iduronidase deficiency disease"; "CSP2005:1849-6334", "DOID:12802" . _:10b3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipochondrodystrophy"; "DOID:12802", "MTHICD9_2006:277.5" . _:10b3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis type 1"; "MONDO:0018934" . _:10b3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis type 1"; rdfs:comment "preferred label from MONDO" . _:10b3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis type I"; "DOID:12802", "MONDORULE:1", "Orphanet:579" . _:10b3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis, MPS-I"; "DOID:12802" . _:10b41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis, type 1"; "DOID:12802" . _:10b42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hurler syndrome (subtype)"; "GARD:0010335" . _:10b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hurler-Scheie syndrome (subtype)"; "GARD:0010335" . _:10b44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDUA deficiency"; "GARD:0010335" . _:10b45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS 1"; "GARD:0010335" . _:10b46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS I"; "GARD:0010335" . _:10b48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)"; "GARD:0010335" . _:10b4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)"; "GARD:0010335" . _:10b4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis I"; "DOID:12802" . _:10b4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe MPS I (subtype, also known as Hurler syndrome)"; "GARD:0010335" . _:10b4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:579" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement."; , ; , , , , , , , , ; "Hunter syndrome"@en, "Iduronate 2-sulfatase deficiency"@en, "MPS2"@en, "MPSII"@en, "Mucopolysaccharidosis type II"@en; "Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement."@en; "orphanet", "orphanet"@en; "DOID:12799", "GARD:0006675", "ICD-10:E76.1", "ICD10:E76.1", "MESH:D016532", "MONDO:0010674", "MSH:D016532", "MeSH:D016532", "MedDRA:10056889", "NCIT:C61260", "OMIM:309900", "SCTID:70737009", "UMLS:C0026705", "UMLS:C2718304"; "Hunter syndrome", "Hunter's syndrome", "Iduronate 2-sulfatase deficiency", "MPS II - Hunter syndrome", "MPS2", "MPSII", "Mucopolysaccharidosis type II", "deficiency of iduronate-2-sulphatase", "iduronate 2-sulfatase deficiency", "mucopolysaccharidosis type 2", "mucopolysaccharidosis type II", "mucopolysaccharidosis, MPS-II"; "I2S deficiency", "Ids deficiency", "MPS 2", "MPS II", "Sids deficiency", "attenuated MPS (subtype; formerly known as mild MPS II)", "mucopolysaccharidosis II", "mucopolysaccharidosis, type 2", "mucopolysaccharidosis, type II", "mucopolysaccharidosis, type II; MPS2", "severe MPS II", "sulfoiduronate sulfatase deficiency"; "Orphanet:580"; ; rdfs:label "Mucopolysaccharidosis type 2", "Mucopolysaccharidosis type 2"@en; "ORPHA:580" . _:10b5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement."; "Orphanet:580" . _:10b5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12799"; "MONDO:equivalentTo" . _:10b5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006675"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:10b5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b5fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25834; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25834 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.1"; "Specific code (The term has its own code in the ICD10)"@en . _:10b62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E76.1"; "DOID:12799", "MONDO:equivalentTo", "ORDO:580/e", "ORDO:580/specific", "Orphanet:580" . _:10b64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016532"; "DOID:12799", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:580/e", "Orphanet:580" . _:10b67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016532"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056889"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056889"; "ORDO:580/e", "Orphanet:580" . _:10b6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61260"; "DOID:12799", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:10b75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:309900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:309900"; "DOID:12799", "MONDO:equivalentTo", "ORDO:580/e", "Orphanet:580" . _:10b77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:70737009"; "DOID:12799", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.09" . _:10b7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026705"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026705"; "DOID:12799", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C61260", "OMIM:309900", "ORDO:580/e", "Orphanet:580" . _:10b84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2718304"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10b85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hunter syndrome"; "DOID:12799", "Orphanet:580" . _:10b89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hunter's syndrome"; "DOID:12799" . _:10b8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS II - Hunter syndrome"; "DOID:12799" . _:10b8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS2"; "MONDO:Lexical", "OMIM:309900", "Orphanet:580" . _:10b8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPSII"; "Orphanet:580" . _:10b90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of iduronate-2-sulphatase"; "DOID:12799" . _:10b92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iduronate 2-sulfatase deficiency"; "OMIM:309900", "Orphanet:580" . _:10b94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis type 2"; rdfs:comment "preferred label from MONDO" . _:10b96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis type II"; "DOID:12799", "MONDORULE:3", "Orphanet:580" . _:10b98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis, MPS-II"; "DOID:12799" . _:10b99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "I2S deficiency"; "GARD:0006675" . _:10ba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ids deficiency"; "OMIM:309900" . _:10ba2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS 2"; "OMIM:309900" . _:10ba3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS II"; "GARD:0006675" . _:10ba7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sids deficiency"; "OMIM:309900" . _:10ba8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "attenuated MPS (subtype; formerly known as mild MPS II)"; "GARD:0006675" . _:10ba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis II"; "DOID:12799" . _:10babd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis, type 2"; "OMIM:309900" . _:10badd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis, type II"; "MONDO:Lexical", "OMIM:309900" . _:10bafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis, type II; MPS2"; "OMIM:309900" . _:10bb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe MPS II"; "GARD:0006675" . _:10bb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sulfoiduronate sulfatase deficiency"; "OMIM:309900" . _:10bb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:580" . a owl:Class; rdfs:subClassOf , ; "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."; "CF"@en, "Mucoviscidosis"@en; "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."@en; "orphanet"@en; "true"; "ICD-10:E84.0", "ICD-10:E84.1", "ICD-10:E84.8", "ICD-10:E84.9", "ICD10:E84", "ICD10:E84.0", "ICD10:E84.1", "ICD10:E84.8", "ICD10:E84.9", "MSH:D003550", "MeSH:D003550", "MedDRA:10011762", "OMIM:219700", "UMLS:C0010674", "Wikipedia:Cystic_fibrosis"; "CF", "Mucoviscidosis"; rdfs:label "Cystic fibrosis", "Cystic fibrosis"@en; "ORPHA:586" . _:10bb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E84.0"; "BTNT (broader term maps to a narrower term)"@en . _:10bb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E84.0"; "Specific code (The term has its own code in the ICD10)"@en . _:10bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E84.1"; "BTNT (broader term maps to a narrower term)"@en . _:10bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E84.1"; "Specific code (The term has its own code in the ICD10)"@en . _:10bb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E84.8"; "BTNT (broader term maps to a narrower term)"@en . _:10bbad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25876; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25876 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E84.8"; "Specific code (The term has its own code in the ICD10)"@en . _:10bbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E84.9"; "BTNT (broader term maps to a narrower term)"@en . _:10bbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E84.9"; "Specific code (The term has its own code in the ICD10)"@en . _:10bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D003550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10bc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10011762"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10bc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:219700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10bc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010674"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth ( congenital muscular dystrophy ). Individuals with this condition are born with muscle weakness ( hypotonia ), severe nearsightedness ( myopia ), glaucoma , and brain abnormalities. They also have developmental delay and intellectual disability , a buildup of fluid in the brain ( hydrocephalus ), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person."; , , ; "MEB syndrome"@en, "Muscle-eye-brain syndrome"@en, "Santavuori congenital muscular dystrophy"@en; "GARD:0000156", "ICD-10:Q04.3", "ICD10:Q04.3", "ICD9:742.4", "MONDO:0018939", "OMIM:236670", "OMIM:253280", "OMIM:253800", "OMIM:613150", "OMIM:613153", "OMIM:613154", "OMIM:615181", "OMIM:615350", "SCTID:277950001", "UMLS:C0457133"; "MEB syndrome", "Muscle-eye-brain syndrome", "Santavuori congenital muscular dystrophy", "muscle-eye-brain disease", "muscle-eye-brain syndrome"; "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"; "MEB", "muscle eye brain disease"; "Orphanet:588"; , ; rdfs:label "Muscle-eye-brain disease", "Muscle-eye-brain disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease"^^xsd:anyURI; "ORPHA:588" . _:10bf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth ( congenital muscular dystrophy ). Individuals with this condition are born with muscle weakness ( hypotonia ), severe nearsightedness ( myopia ), glaucoma , and brain abnormalities. They also have developmental delay and intellectual disability , a buildup of fluid in the brain ( hydrocephalus ), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person."; "https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease" . _:10c00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000156"; "MONDO:equivalentTo" . _:10c01d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25886; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25886 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "Attributed"@en . _:10c02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "NTBT (narrower term maps to a broader term)"@en . _:10c03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "ORDO:588/attributed", "ORDO:588/ntbt", "Orphanet:588" . _:10c04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:742.4"; "MONDO:relatedTo", "i2s" . _:10c06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236670"; "NTBT (narrower term maps to a broader term)"@en . _:10c07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253280"; "BTNT (broader term maps to a narrower term)"@en . _:10c08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253800"; "BTNT (broader term maps to a narrower term)"@en . _:10c0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613150"; "BTNT (broader term maps to a narrower term)"@en . _:10c0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613153"; "BTNT (broader term maps to a narrower term)"@en . _:10c10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613154"; "BTNT (broader term maps to a narrower term)"@en . _:10c12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615181"; "BTNT (broader term maps to a narrower term)"@en . _:10c14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615350"; "BTNT (broader term maps to a narrower term)"@en . _:10c15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:277950001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.62" . _:10c18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0457133"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10c1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEB syndrome"; "Orphanet:588" . _:10c1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Santavuori congenital muscular dystrophy"; "Orphanet:588" . _:10c1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle-eye-brain disease"; rdfs:comment "preferred label from MONDO" . _:10c1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle-eye-brain syndrome"; "Orphanet:588" . _:10c20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"; "GARD:0000156" . _:10c21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEB"; "GARD:0000156" . _:10c22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle eye brain disease"; "GARD:0000156" . _:10c23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000156" . _:10c24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:588" . _:10c25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease"^^xsd:anyURI; "GARD:0000156" . a owl:Class; rdfs:subClassOf ; "Acquired myasthenia"@en, "Autoimmune myasthenia gravis"@en; "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles."@en; "orphanet"@en; "ICD-10:G70.0", "MeSH:D009157", "MedDRA:10028417", "OMIM:159400", "OMIM:254200", "OMIM:607085", "UMLS:C0026896"; rdfs:label "Myasthenia gravis"@en; "ORPHA:589" . _:10c28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G70.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10c29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009157"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10c2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028417"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10c2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:159400"; "BTNT (broader term maps to a narrower term)"@en . _:10c2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:254200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10c2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607085"; "BTNT (broader term maps to a narrower term)"@en . _:10c2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026896"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness."; , , , , , ; ; "CMS"@en; "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness."@en; "orphanet"@en; "DOID:3635", "GARD:0000098", "GARD:0011902", "ICD-10:G70.2", "ICD10:G70.2", "ICD9:358.00", "ICD9:V17.89", "MESH:D020294", "MONDO:0018940", "MSH:D020294", "MeSH:D020294", "NCIT:C84647", "OMIM:254190", "OMIM:254210", "OMIM:254300", "OMIM:601462", "OMIM:603034", "OMIM:605809", "OMIM:608930", "OMIM:608931", "OMIM:610542", "OMIM:614198", "OMIM:614750", "OMIM:615120", "OMIM:616040", "OMIM:616224", "OMIM:616227", "OMIM:616228", "OMIM:616304", "OMIM:616313", "OMIM:616314", "OMIM:616321", "OMIM:616322", "OMIM:616323", "OMIM:616324", "OMIM:616325", "OMIM:616326", "OMIM:616330", "OMIM:616720", "OMIM:617143", "OMIM:617239", "OMIMPS:601462", "SCTID:230672006", "UMLS:C0751882"; "CMS", "congenital myasthenic syndrome", "familial limb-girdle myasthenia", "myasthenic syndrome, congenital"; "congenital MG", "congenital myasthenia", "erb-Goldflam syndrome", "myasthenia gravis congenital", "myasthenia gravis pseudoparalytica"; "Orphanet:590"; , ; rdfs:label "Congenital myasthenic syndrome"@en, "Congenital myasthenic syndromes"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome"^^xsd:anyURI; "ORPHA:590" . _:10c38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness."; "Orphanet:590" . _:10c3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:590", "https://github.com/Orphanet/ORDO/issues/17" . _:10c40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3635"; "MONDO:equivalentTo" . _:10c41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000098"; "MONDO:equivalentTo" . _:10c43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011902"; "MONDO:equivalentTo" . _:10c44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G70.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10c45d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid25924; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid25924 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G70.2"; "Specific code (The term has its own code in the ICD10)"@en . _:10c48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G70.2"; "ORDO:590/e", "ORDO:590/specific", "Orphanet:590" . _:10c4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:358.00"; "MONDO:relatedTo", "i2s" . _:10c4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:V17.89"; "MONDO:relatedTo", "i2s" . _:10c4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020294"; "DOID:3635", "MONDO:equivalentTo", "ORDO:590/e", "Orphanet:590" . _:10c4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020294"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10c50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84647"; "DOID:3635", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:10c51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:254190"; "BTNT (broader term maps to a narrower term)"@en . _:10c53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:254210"; "BTNT (broader term maps to a narrower term)"@en . _:10c55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:254300"; "BTNT (broader term maps to a narrower term)"@en . _:10c57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601462"; "BTNT (broader term maps to a narrower term)"@en . _:10c58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603034"; "BTNT (broader term maps to a narrower term)"@en . _:10c5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605809"; "BTNT (broader term maps to a narrower term)"@en . _:10c5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605809"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608930"; "BTNT (broader term maps to a narrower term)"@en . _:10c60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608931"; "BTNT (broader term maps to a narrower term)"@en . _:10c64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610542"; "BTNT (broader term maps to a narrower term)"@en . _:10c67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614198"; "BTNT (broader term maps to a narrower term)"@en . _:10c68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614750"; "BTNT (broader term maps to a narrower term)"@en . _:10c69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615120"; "BTNT (broader term maps to a narrower term)"@en . _:10c6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615120"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616040"; "BTNT (broader term maps to a narrower term)"@en . _:10c6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616040"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616224"; "BTNT (broader term maps to a narrower term)"@en . _:10c73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616224"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616227"; "BTNT (broader term maps to a narrower term)"@en . _:10c76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616227"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616228"; "BTNT (broader term maps to a narrower term)"@en . _:10c78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616228"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616304"; "BTNT (broader term maps to a narrower term)"@en . _:10c7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616304"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616313"; "BTNT (broader term maps to a narrower term)"@en . _:10c7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616313"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616314"; "BTNT (broader term maps to a narrower term)"@en . _:10c7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616314"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616321"; "BTNT (broader term maps to a narrower term)"@en . _:10c81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616321"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616322"; "BTNT (broader term maps to a narrower term)"@en . _:10c83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616322"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616323"; "BTNT (broader term maps to a narrower term)"@en . _:10c87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616323"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616324"; "BTNT (broader term maps to a narrower term)"@en . _:10c8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616324"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616325"; "BTNT (broader term maps to a narrower term)"@en . _:10c90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616325"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616326"; "BTNT (broader term maps to a narrower term)"@en . _:10c93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616326"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616330"; "BTNT (broader term maps to a narrower term)"@en . _:10c97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616330"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616720"; "BTNT (broader term maps to a narrower term)"@en . _:10c9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616720"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10c9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617143"; "BTNT (broader term maps to a narrower term)"@en . _:10c9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617239"; "BTNT (broader term maps to a narrower term)"@en . _:10ca2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:601462"; "DOID:3635", "MONDO:equivalentTo" . _:10ca5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230672006"; "DOID:3635", "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.42" . _:10ca7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751882"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10ca9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751882"; "DOID:3635", "MONDO:equivalentTo", "NCIT:C84647", "ORDO:590/e", "Orphanet:590" . _:10cacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMS"; "Orphanet:590" . _:10cafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital myasthenic syndrome"; rdfs:comment "preferred label from MONDO" . _:10cb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial limb-girdle myasthenia"; "DOID:3635" . _:10cb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myasthenic syndrome, congenital"; "OMIMPS:601462" . _:10cb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital MG"; "GARD:0000098" . _:10cb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital myasthenia"; "GARD:0011902" . _:10cb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erb-Goldflam syndrome"; "GARD:0000098" . _:10cbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myasthenia gravis congenital"; "GARD:0000098" . _:10cbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myasthenia gravis pseudoparalytica"; "GARD:0000098" . _:10cbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0011902" . _:10cbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:590" . _:10cc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome"^^xsd:anyURI; "GARD:0011902" . a owl:Class; rdfs:subClassOf ; "MMF"@en; "ICD-10:M60.8", "MeSH:C537829", "UMLS:C2931639"; rdfs:label "Macrophagic myofasciitis"@en; "ORPHA:592" . _:10cc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M60.8"; "NTBT (narrower term maps to a broader term)"@en . _:10cc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537829"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10ccbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931639"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients."; , , , , , ; "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients."@en; "orphanet"@en; "DOID:0080307", "GARD:0010529", "HP:0003715", "ICD-10:G71.8", "ICD10:G71.8", "ICD9:359.89", "MESH:C580316", "MONDO:0018943", "NCIT:C83009", "OMIM:617114", "OMIM:617258", "OMIMPS:601419", "SCTID:699269005", "UMLS:C2678065"; "myofibrillar myopathy", "myofibrillar myopathy (disease)"; "Alpha Beta crystallinopathy (type)", "Desminopathy (type)", "Protein surplus myopathy (former name)", "Zaspopathy (type)", "desmin related myopathy (former name)", "desmin storage myopathy (former name)", "filaminopathy (type)", "myofibrillar myopathies", "myotilinopathy (type)"; "Orphanet:593"; , ; rdfs:label "Myofibrillar myopathy", "Myofibrillar myopathy"@en; "ORPHA:593" . _:10cd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients."; "Orphanet:593" . _:10cd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080307"; "MONDO:equivalentTo" . _:10cd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010529"; "MONDO:equivalentTo", "Orphanet-shared" . _:10cd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0003715"; "MONDO:otherHierarchy", "ontobio" . _:10cd8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26001; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26001 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.8"; "Attributed"@en . _:10cdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.8"; "NTBT (narrower term maps to a broader term)"@en . _:10cddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.8"; "ORDO:593/attributed", "ORDO:593/ntbt", "Orphanet:593" . _:10cdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.89"; "MONDO:relatedTo", "i2s" . _:10ce1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C580316"; "MONDO:equivalentTo", "MONDO:ontobio" . _:10ce3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C83009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.34" . _:10ce4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617114"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10ce8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617258"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10ce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:601419"; "DC:0000305", "DOID:0080307", "MONDO:equivalentTo" . _:10cecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:699269005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:10cedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2678065"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10cefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2678065"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C83009", "Orphanet:593" . _:10cf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myofibrillar myopathy"; "MONDO:ambiguous", "OMIMPS:601419" . _:10cf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myofibrillar myopathy (disease)"; rdfs:comment "preferred label from MONDO" . _:10cf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha Beta crystallinopathy (type)"; "GARD:0010529" . _:10cf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Desminopathy (type)"; "GARD:0010529" . _:10cf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein surplus myopathy (former name)"; "GARD:0010529" . _:10cf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zaspopathy (type)"; "GARD:0010529" . _:10cfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "desmin related myopathy (former name)"; "GARD:0010529" . _:10cfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "desmin storage myopathy (former name)"; "GARD:0010529" . _:10cffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "filaminopathy (type)"; "GARD:0010529" . _:10d00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myofibrillar myopathies"; "MESH:C580316" . _:10d06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotilinopathy (type)"; "GARD:0010529" . _:10d08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:593" . a owl:Class; rdfs:subClassOf ; "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres."@en; "orphanet"@en; "ICD-10:Q04.3", "UMLS:C1866130"; rdfs:label "Rhombencephalosynapsis"@en; "ORPHA:59315" . _:10d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "NTBT (narrower term maps to a broader term)"@en . _:10d0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1866130"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy."; , , ; , , , ; "CNM"@en; "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy."@en; "orphanet"@en; "DOID:14717", "GARD:0000101", "ICD-10:G71.2", "ICD10:G71.2", "MONDO:0018947", "OMIMPS:160150", "SCTID:82077006", "UMLS:C0175709"; "CNM", "centronuclear myopathy", "myopathy, centronuclear", "myotubular myopathy"; "myopathy, myotubular"; "Orphanet:595"; , ; rdfs:label "Centronuclear myopathy", "Centronuclear myopathy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy"^^xsd:anyURI; "ORPHA:595" . _:10d0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy."; "Orphanet:595" . _:10d11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14717"; "MONDO:equivalentTo" . _:10d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000101"; "MONDO:equivalentTo" . _:10d14d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26031; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26031 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10d16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:10d32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "ORDO:595/inclusion", "ORDO:595/ntbt", "Orphanet:595" . _:10d35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:160150"; "MONDO:cjm", "MONDO:equivalentTo" . _:10d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:82077006"; "DOID:14717", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:10d3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175709"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10d3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175709"; "DOID:14717", "MONDO:equivalentTo", "Orphanet:595" . _:10d3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNM"; "Orphanet:595" . _:10d3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "centronuclear myopathy"; rdfs:comment "preferred label from MONDO" . _:10d48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, centronuclear"; "OMIMPS:160150" . _:10d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotubular myopathy"; "DOID:14717", "MTHICD9_2006:359.0" . _:10d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, myotubular"; "GARD:0000101" . _:10d4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000101" . _:10d4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:595" . _:10d4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy"^^xsd:anyURI; "GARD:0000101" . a owl:Class; rdfs:subClassOf , , ; "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.", "Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy."; , , ; , , , , , , ; "Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy."@en; "orphanet"@en; "DOID:3529", "EFO:1000855", "GARD:0006014", "ICD-10:G71.2", "ICD10:G71.2", "MESH:D020512", "MONDO:0007294", "NCIT:C83010", "OMIM:117000", "SCTID:43152001", "UMLS:C0751951"; "central core disease", "central core myopathy"; "CCD", "Cco", "Shy-Magee syndrome", "central CORE disease of muscle", "central CORE disease of muscle; CCD", "minicore myopathy, moderate, with hand involvement", "multicore myopathy, moderate, with hand involvement", "multiminicore disease, moderate, with hand involvement", "muscle core disease", "muscular central core disease", "myopathy, central core", "myopathy, central fibrillar", "neuromuscular disease, congenital, with uniform type 1 Fiber"; "Orphanet:597"; ; rdfs:label "Central core disease", "Central core disease"@en; "ORPHA:597" . _:10d52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation."; "NCIT:P378" . _:10d54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3529"; "EFO:1000855", "MONDO:equivalentTo" . _:10d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1000855"; "MONDO:equivalentTo" . _:10d57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006014"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:10d5ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26051; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26051 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10d5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:10d5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "DOID:3529", "ORDO:597/inclusion", "ORDO:597/ntbt", "Orphanet:597" . _:10d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020512"; "DOID:3529", "EFO:1000855", "MONDO:equivalentTo" . _:10d5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C83010"; "DOID:3529", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:10d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:117000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10d61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:117000"; "DOID:3529", "MONDO:equivalentTo", "ORDO:597/e", "Orphanet:597" . _:10d62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:43152001"; "DOID:3529", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:10d65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751951"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10d66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751951"; "DOID:3529", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C83010", "OMIM:117000", "Orphanet:597" . _:10d67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central core disease"; "DOID:3529", "MTHICD9_2006:359.0" . _:10d69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central core myopathy"; rdfs:comment "preferred label from MONDO" . _:10d6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCD"; "MONDO:Lexical", "OMIM:117000" . _:10d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cco"; "OMIM:117000" . _:10d6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shy-Magee syndrome"; "GARD:0006014" . _:10d71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central CORE disease of muscle"; "MONDO:Lexical", "OMIM:117000" . _:10d73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central CORE disease of muscle; CCD"; "OMIM:117000" . _:10d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "minicore myopathy, moderate, with hand involvement"; "OMIM:117000" . _:10d75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multicore myopathy, moderate, with hand involvement"; "OMIM:117000" . _:10d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiminicore disease, moderate, with hand involvement"; "OMIM:117000" . _:10d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle core disease"; "GARD:0006014" . _:10d7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular central core disease"; "GARD:0006014" . _:10d7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, central core"; "GARD:0006014" . _:10d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, central fibrillar"; "GARD:0006014" . _:10d80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuromuscular disease, congenital, with uniform type 1 Fiber"; "OMIM:117000" . _:10d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:597" . a owl:Class; rdfs:subClassOf ; "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands."; , ; , , , , ; "Distal muscular dystrophy"@en; "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands."@en; "orphanet", "orphanet"@en; "DOID:11720", "ICD-10:G71.0", "ICD10:G71.0", "MONDO:0018949", "NCIT:C84675", "OMIM:614321", "SCTID:58795000", "UMLS:C0751336"; "Miyoshi muscular dystrophy", "distal muscular dystrophy", "distal myopathy"; "Orphanet:599"; ; rdfs:label "Distal myopathy", "Distal myopathy"@en; "ORPHA:599" . _:10d85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands."; "Orphanet:599" . _:10d87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11720"; "MONDO:equivalentTo" . _:10d89d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26080; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26080 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10d8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:10d8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:11720", "MONDO:subClassOf", "ORDO:599/inclusion", "ORDO:599/ntbt", "Orphanet:599" . _:10d8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84675"; "DOID:11720", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.86/0.11" . _:10d90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:58795000"; "DOID:11720", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.84/0.08" . _:10d92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751336"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751336"; "DOID:11720", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C84675", "Orphanet:599" . _:10d9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Miyoshi muscular dystrophy"; "DOID:11720" . _:10d9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal muscular dystrophy"; "MONDO:0001346", "Orphanet:599" . _:10d9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy"; "DOID:11720" . _:10d9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy"; rdfs:comment "preferred label from MONDO" . _:10da0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:599" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis."; , ; , , , , , , , , ; "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis."@en; "orphanet"@en; "COHD:192275", "DOID:13372", "GARD:0005784", "ICD-10:E88.0", "ICD10:E88.0", "ICD10:E88.01", "ICD9:273.4", "MESH:D019896", "MONDO:0013282", "MSH:C531610", "MSH:D019896", "MeSH:C531610", "MeSH:D019896", "MedDRA:10001806", "NCIT:C84397", "OMIM:613490", "SCTID:30188007", "UMLS:C0221757", "UMLS:C3501835"; "A-1ATD", "A1AD", "AAT deficiency", "alpha 1-antitrypsin deficiency", "deficiency in Alpa-1-proteinase inhibitor"; "A1AT deficiency", "A1ATD", "AATD", "ALPHA-1-antitrypsin deficiency; A1ATD", "Alpha 1 antitrypsin deficiency", "Alpha-1 antitrypsin deficiency", "alpha-1-antitrypsin deficiency"; "Orphanet:60"; , ; rdfs:label "Alpha-1-antitrypsin deficiency", "Alpha-1-antitrypsin deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency"^^xsd:anyURI; "ORPHA:60" . _:10da4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis."; "Orphanet:60" . _:10da5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:192275"; "MONDO:equivalentTo" . _:10da6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13372"; "MONDO:equivalentTo" . _:10da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005784"; "MONDO:equivalentTo" . _:10da8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26097; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26097 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E88.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10da9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E88.0"; "NTBT (narrower term maps to a broader term)"@en . _:10daad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E88.0"; "ORDO:60/inclusion", "ORDO:60/ntbt", "Orphanet:60" . _:10dabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E88.01"; "DOID:13372", "MONDO:equivalentTo" . _:10dacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:273.4"; "DOID:13372", "MONDO:equivalentTo", "i2s" . _:10dadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019896"; "DOID:13372", "MONDO:equivalentTo", "ORDO:60/e", "Orphanet:60" . _:10dafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C531610"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10db1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D019896"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10db2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001806"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10db4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001806"; "ORDO:60/e", "Orphanet:60" . _:10db6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84397"; "DOID:13372", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.77/6.29" . _:10db9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613490"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613490"; "DOID:13372", "MONDO:equivalentTo", "ORDO:60/e", "Orphanet:60" . _:10dc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30188007"; "DOID:13372", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/10.19" . _:10dc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221757"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10dc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221757"; "DOID:13372", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84397", "OMIM:613490", "ORDO:60/e", "Orphanet:60" . _:10dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3501835"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A-1ATD"; "NCIT:C84397" . _:10dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A1AD"; "NCIT:C84397" . _:10dcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAT deficiency"; "DOID:13372", "MTHICD9_2006:273.4" . _:10dcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha 1-antitrypsin deficiency"; rdfs:comment "preferred label from MONDO" . _:10dced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency in Alpa-1-proteinase inhibitor"; "Orphanet:60" . _:10dd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A1AT deficiency"; "GARD:0005784" . _:10dd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A1ATD"; "OMIM:613490" . _:10dd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AATD"; "GARD:0005784" . _:10dd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALPHA-1-antitrypsin deficiency; A1ATD"; "OMIM:613490" . _:10dd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha 1 antitrypsin deficiency"; "GARD:0005784" . _:10dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-1 antitrypsin deficiency"; "GARD:0005784" . _:10ddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha-1-antitrypsin deficiency"; "OMIM:613490" . _:10dddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005784" . _:10de1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:60" . _:10de2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency"^^xsd:anyURI; "GARD:0005784" . a owl:Class; rdfs:subClassOf ; "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory tract infections, pneumonia, dysphagia, stridor, and/or failure to thrive."@en; "orphanet"@en; "MeSH:C535297", "MedDRA:10059314", "UMLS:C1168198"; rdfs:label "Recurrent respiratory papillomatosis"@en; "ORPHA:60032" . _:10de4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535297"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10de5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059314"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10de6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1168198"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)."@en; "orphanet"@en; "ICD-10:J47", "OMIM:211400", "OMIM:613021", "OMIM:613071", "UMLS:C0339985"; rdfs:label "Idiopathic bronchiectasis"@en; "ORPHA:60033" . _:10de9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26133; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26133 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J47"; "Attributed"@en . _:10debd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J47"; "NTBT (narrower term maps to a broader term)"@en . _:10dedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:211400"; "BTNT (broader term maps to a narrower term)"@en . _:10defd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613021"; "BTNT (broader term maps to a narrower term)"@en . _:10df2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613071"; "BTNT (broader term maps to a narrower term)"@en . _:10df3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339985"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , ; "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."; , ; , , , ; "DMRV"@en, "Distal myopathy with rimmed vacuoles"@en, "Distal myopathy, Nonaka type"@en, "HIBM2"@en, "Hereditary inclusion body myopathy type 2"@en, "IBM2"@en, "Inclusion body myopathy type 2"@en, "Nonaka myopathy"@en, "Quadriceps-sparing myopathy"@en; "GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles."@en; "orphanet"@en; "GARD:0009493", "ICD-10:G71.8", "ICD10:G71.8", "MONDO:0011603", "MSH:C536816", "MeSH:C536816", "OMIM:600737", "OMIM:605820", "OMIM:617158", "SCTID:702382000", "UMLS:C1833373", "UMLS:C1853926"; "DMRV", "Distal myopathy with rimmed vacuoles", "GNE myopathy", "HIBM2", "Hereditary inclusion body myopathy type 2", "IBM2", "Inclusion body myopathy type 2", "Nonaka myopathy", "Quadriceps-sparing myopathy", "distal myopathy with rimmed vacuoles", "distal myopathy, Nonaka type", "hereditary inclusion body myopathy type 2", "inclusion body myopathy autosomal recessive", "inclusion body myopathy type 2", "quadriceps-sparing myopathy"; "NM", "Nonaka distal myopathy", "Nonaka myopathy", "Nonaka myopathy; NM", "QSM", "inclusion body myopathy 2, autosomal recessive", "inclusion body myopathy 2, autosomal recessive, formerly", "inclusion body myopathy, autosomal recessive", "inclusion body myopathy, hereditary, autosomal recessive", "inclusion body myopathy, quadriceps-sparing", "myopathy, distal, with or without rimmed vacuoles", "myopathy, distal, with rimmed vacuoles", "quadriceps sparing myopathy", "rimmed vacuole myopathy"; "Orphanet:602"; ; rdfs:label "Distal myopathy, Nonaka type", "GNE myopathy"@en; "ORPHA:602" . _:10dfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."; "Orphanet:602" . _:10dfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009493"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:10e01d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26142; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.8"; "Attributed"@en . _:10e02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.8"; "NTBT (narrower term maps to a broader term)"@en . _:10e04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.8"; "ORDO:602/attributed", "ORDO:602/ntbt", "Orphanet:602" . _:10e05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536816"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10e06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605820"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10e0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605820"; "MONDO:equivalentTo", "ORDO:602/e", "Orphanet:602" . _:10e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617158"; "BTNT (broader term maps to a narrower term)"@en . _:10e0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617158"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10e10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:702382000"; "MONDO:equivalentTo" . _:10e11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833373"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10e12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853926"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10e13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMRV"; "Orphanet:602" . _:10e14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GNE myopathy"; rdfs:comment "preferred label from MONDO" . _:10e15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIBM2"; "Orphanet:602" . _:10e16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBM2"; "Orphanet:602" . _:10e17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonaka myopathy"; "Orphanet:602" . _:10e18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy with rimmed vacuoles"; "Orphanet:602" . _:10e1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "distal myopathy, Nonaka type"; "Orphanet:602" . _:10e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary inclusion body myopathy type 2"; "Orphanet:602" . _:10e1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy autosomal recessive"; "OMIM:605820" . _:10e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy type 2"; "Orphanet:602" . _:10e21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "quadriceps-sparing myopathy"; "Orphanet:602" . _:10e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NM"; "MONDO:Lexical", "OMIM:605820" . _:10e2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonaka distal myopathy"; "OMIM:605820" . _:10e2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonaka myopathy"; "MONDO:Lexical", "OMIM:605820" . _:10e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonaka myopathy; NM"; "OMIM:605820" . _:10e2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QSM"; "GARD:0009493" . _:10e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy 2, autosomal recessive"; "OMIM:605820" . _:10e33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy 2, autosomal recessive, formerly"; "OMIM:605820" . _:10e6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy, autosomal recessive"; "GARD:0009493" . _:10e6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy, hereditary, autosomal recessive"; "OMIM:605820" . _:10e6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy, quadriceps-sparing"; "GARD:0009493", "OMIM:605820" . _:10e72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, distal, with or without rimmed vacuoles"; "OMIM:605820" . _:10e73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, distal, with rimmed vacuoles"; "OMIM:605820" . _:10e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "quadriceps sparing myopathy"; "GARD:0009493" . _:10e75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rimmed vacuole myopathy"; "GARD:0009493" . _:10e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:602" . a owl:Class; rdfs:subClassOf , , , , , ; "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders."; , , , , , , ; , , , , , ; "Myotonic dystrophy type 2"@en, "Proximal myotonic dystrophy"@en, "Ricker disease"@en, "Ricker syndrome"@en; "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders."@en; "orphanet"@en; "DOID:0050759", "GARD:0009728", "ICD-10:G71.1", "ICD10:G71.1", "ICD10:G71.19", "ICD9:359.2", "MONDO:0011266", "MSH:D020967", "MeSH:D020967", "NCIT:C84680", "OMIM:602668", "UMLS:C0752354", "UMLS:C2931689"; "CNBP myotonic dystrophy", "Myotonic dystrophy type 2", "Proximal myotonic dystrophy", "Ricker disease", "Ricker syndrome", "myotonic dystrophy caused by mutation in CNBP", "myotonic dystrophy type 2", "proximal myotonic dystrophy", "proximal myotonic myopathy", "ricker disease", "ricker syndrome"; "DM2", "PROMM", "dystrophia myotonica 2", "dystrophia myotonica type 2", "myotonic dystrophy 2", "myotonic dystrophy 2; DM2", "myotonic myopathy, proximal"; "Orphanet:606"; , ; rdfs:label "Proximal myotonic myopathy", "Proximal myotonic myopathy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2"^^xsd:anyURI; "ORPHA:606" . _:10e83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders."; "Orphanet:606" . _:10e85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050759"; "MONDO:equivalentTo" . _:10e87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009728"; "MONDO:equivalentTo" . _:10e8ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26183; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26183 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "Attributed"@en . _:10e8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.1"; "NTBT (narrower term maps to a broader term)"@en . _:10e8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.1"; "DOID:0050759", "ORDO:606/attributed", "ORDO:606/ntbt", "Orphanet:606" . _:10e8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.19"; "DOID:0050759" . _:10e91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.2"; "DOID:0050759" . _:10e92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020967"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10e93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84680"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:10e95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602668"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10e97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602668"; "DOID:0050759", "MONDO:equivalentTo", "ORDO:606/e", "Orphanet:606" . _:10e99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0752354"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931689"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10e9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNBP myotonic dystrophy"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:10e9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy caused by mutation in CNBP"; "MONDO:design_pattern" . _:10ea5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy type 2"; "MONDORULE:1", "OMIM:602668", "Orphanet:606" . _:10ea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy type 2"; rdfs:comment "preferred label from MONDO" . _:10eacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proximal myotonic dystrophy"; "Orphanet:606" . _:10eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proximal myotonic myopathy"; "DOID:0050759" . _:10eaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ricker disease"; "Orphanet:606" . _:10eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ricker syndrome"; "OMIM:602668", "Orphanet:606" . _:10eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DM2"; "MONDO:Lexical", "OMIM:602668" . _:10eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROMM"; "GARD:0009728" . _:10eb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophia myotonica 2"; "OMIM:602668" . _:10eb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophia myotonica type 2"; "GARD:0009728" . _:10ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy 2"; "MONDO:Lexical", "OMIM:602668" . _:10ebed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic dystrophy 2; DM2"; "OMIM:602668" . _:10ec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myotonic myopathy, proximal"; "OMIM:602668" . _:10ec1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009728" . _:10ec3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:606" . _:10ec4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2"^^xsd:anyURI; "GARD:0009728" . a owl:Class; rdfs:subClassOf , ; "Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.", "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy."; , , , , ; "NEM"@en, "NM"@en, "Nemaline rod myopathy"@en; "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy."@en; "orphanet", "orphanet"@en; "DOID:3191", "GARD:0012033", "ICD-10:G71.2", "ICD10:G71.2", "MESH:D017696", "MONDO:0018958", "MSH:D017696", "MeSH:D017696", "OMIM:161800", "OMIM:256030", "OMIM:605355", "OMIM:609273", "OMIM:609284", "OMIM:609285", "OMIM:610687", "OMIM:615348", "OMIM:615731", "OMIM:616165", "OMIM:617336", "OMIMPS:161800", "SCTID:75072002", "UMLS:C0206157"; "NEM", "NM", "Nemaline rod myopathy", "nemaline body disease", "nemaline myopathy", "nemaline rod myopathy", "rod myopathy"; "Rod body disease", "Rod-body myopathy", "congenital rod disease", "nemaline rod disease"; "Orphanet:607"; ; rdfs:label "Nemaline myopathy", "Nemaline myopathy"@en; "ORPHA:607" . _:10eccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy."; "Orphanet:607" . _:10eced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3191"; "MONDO:equivalentTo" . _:10ed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012033"; "MONDO:equivalentTo", "Orphanet-shared" . _:10ed2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26216; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26216 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10ed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:10ed8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "DOID:3191", "ORDO:607/inclusion", "ORDO:607/ntbt", "Orphanet:607" . _:10edad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017696"; "DOID:3191", "MONDO:equivalentTo", "ORDO:607/e", "Orphanet:607" . _:10edbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017696"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10edcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615731"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10eded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616165"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10edfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:161800"; "DOID:3191", "MONDO:equivalentTo" . _:10ee4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:75072002"; "DOID:3191", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:10ee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206157"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10ee6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206157"; "DOID:3191", "MONDO:equivalentTo", "ORDO:607/e", "Orphanet:607" . _:10ee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEM"; "Orphanet:607" . _:10eead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NM"; "Orphanet:607" . _:10eebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nemaline body disease"; "DOID:3191", "MTHICD9_2006:359.0" . _:10eefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nemaline myopathy"; rdfs:comment "preferred label from MONDO" . _:10ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nemaline rod myopathy"; "DOID:3191", "Orphanet:607" . _:10efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rod myopathy"; "DOID:3191" . _:10efdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rod body disease"; "GARD:0012033" . _:10efed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rod-body myopathy"; "GARD:0012033" . _:10effd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital rod disease"; "GARD:0012033" . _:10f01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nemaline rod disease"; "GARD:0012033" . _:10f02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:607" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit."; ; , , , , , , ; "Lysosomal alpha-D-mannosidase deficiency"@en; "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit."@en; "orphanet"@en; "DOID:3413", "GARD:0006968", "ICD-10:E77.1", "ICD10:E77.1", "ICD9:271.8", "MESH:D008363", "MONDO:0009561", "MSH:D008363", "MeSH:D008363", "NCIT:C84548", "OMIM:248500", "SCTID:65524005", "UMLS:C0024748"; "Alpha-D-mannosidosis", "Lysosomal alpha-D-mannosidase deficiency", "alpha-mannosidase deficiency", "alpha-mannosidosis", "deficiency of alpha-mannosidase", "lysosomal alpha-D-mannosidase deficiency"; "Alpha mannosidase B deficiency", "Alpha-mannosidase B deficiency", "MANSA", "lysosomal Alpha-D-mannosidase deficiency", "mannosidosis, ALPHA B, lysosomal", "mannosidosis, ALPHA B, lysosomal; MANSA", "mannosidosis, alpha B lysosomal"; "Orphanet:61"; , ; rdfs:label "Alpha-mannosidosis", "Alpha-mannosidosis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis"^^xsd:anyURI; "ORPHA:61" . _:10f0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit."; "Orphanet:61" . _:10f0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3413"; "MONDO:equivalentTo" . _:10f0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006968"; "MONDO:equivalentTo" . _:10f11d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26242; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E77.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:10f14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E77.1"; "NTBT (narrower term maps to a broader term)"@en . _:10f16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.1"; "ORDO:61/inclusion", "ORDO:61/ntbt", "Orphanet:61" . _:10f18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.8"; "MONDO:relatedTo", "i2s" . _:10f1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008363"; "DOID:3413", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:61/e", "Orphanet:61" . _:10f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008363"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84548"; "DOID:3413", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:10f22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:248500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:248500"; "DOID:3413", "MONDO:equivalentTo", "ORDO:61/e", "Orphanet:61" . _:10f26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:65524005"; "DOID:3413", "MONDO:equivalentTo" . _:10f27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024748"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024748"; "DOID:3413", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84548", "OMIM:248500", "ORDO:61/e", "Orphanet:61" . _:10f29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-D-mannosidosis"; "DOID:3413" . _:10f2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha-mannosidase deficiency"; "DOID:3413" . _:10f2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha-mannosidosis"; "OMIM:248500" . _:10f31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha-mannosidosis"; rdfs:comment "preferred label from MONDO" . _:10f33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of alpha-mannosidase"; "DOID:3413" . _:10f34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal alpha-D-mannosidase deficiency"; "Orphanet:61" . _:10f36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha mannosidase B deficiency"; "GARD:0006968" . _:10f39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-mannosidase B deficiency"; "OMIM:248500" . _:10f3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MANSA"; "MONDO:Lexical", "OMIM:248500" . _:10f3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal Alpha-D-mannosidase deficiency"; "OMIM:248500" . _:10f3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mannosidosis, ALPHA B, lysosomal"; "MONDO:Lexical", "OMIM:248500" . _:10f40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mannosidosis, ALPHA B, lysosomal; MANSA"; "OMIM:248500" . _:10f42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mannosidosis, alpha B lysosomal"; "GARD:0006968" . _:10f44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006968" . _:10f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:61" . _:10f48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis"^^xsd:anyURI; "GARD:0006968" . a owl:Class; rdfs:subClassOf , , , , ; "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles."; , , , , , ; "Benign autosomal dominant myopathy"@en; "Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy."@en; "orphanet"@en; "DOID:0050663", "GARD:0000873", "ICD-10:G71.0", "ICD10:G71.0", "MESH:C535436", "MONDO:0008029", "MSH:C535436", "MeSH:C535436", "NCIT:C126688", "OMIM:158810", "OMIM:616471", "OMIMPS:158810", "SCTID:718572004", "UMLS:C1834674"; "Benign autosomal dominant myopathy", "Bethlem myopathy", "Bethlem myopathy type 1", "benign autosomal dominant myopathy", "benign congenital muscular dystrophy"; "BTHLM1", "Bethlem myopathy 1"; "Orphanet:610"; , ; rdfs:comment "Editor note: consider separating type 1 form"; rdfs:label "Bethlem myopathy", "Bethlem myopathy"@en; "ORPHA:610" . _:10f4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles."; "NCIT:C126688" . _:10f50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050663"; "MONDO:equivalentTo" . _:10f51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000873"; "MONDO:equivalentTo", "Orphanet-shared" . _:10f53d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26274; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26274 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Attributed"@en . _:10f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:10f56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:610/attributed", "ORDO:610/ntbt", "Orphanet:610" . _:10f57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535436"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:610/e", "Orphanet:610" . _:10f58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535436"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126688"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/6.52" . _:10f5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:158810"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616471"; "BTNT (broader term maps to a narrower term)"@en . _:10f5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616471"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:10f60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:158810"; "MONDO:cjm", "MONDO:equivalentTo" . _:10f61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718572004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.28" . _:10f63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1834674"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1834674"; "MONDO:equivalentTo", "NCIT:C126688", "OMIM:158810", "ORDO:610/e", "Orphanet:610" . _:10f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bethlem myopathy"; rdfs:comment "preferred label from MONDO" . _:10f68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bethlem myopathy type 1"; "MONDORULE:1", "OMIM:158810" . _:10f6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign autosomal dominant myopathy"; "Orphanet:610" . _:10f6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign congenital muscular dystrophy"; "DOID:0050663" . _:10f6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BTHLM1"; "MONDO:Lexical", "OMIM:158810" . _:10f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bethlem myopathy 1"; "MONDO:Lexical", "OMIM:158810" . _:10f71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:610" . a owl:Class; rdfs:subClassOf ; "IBM"@en, "Sporadic inclusion body myositis"@en, "sIBM"@en; "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features."@en; "orphanet"@en; "ICD-10:M60.8", "MedDRA:10066407", "OMIM:147421", "UMLS:C0238190", "UMLS:C0751713"; rdfs:label "Inclusion body myositis"@en; "ORPHA:611" . _:10f76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M60.8"; "NTBT (narrower term maps to a broader term)"@en . _:10f78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066407"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:147421"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238190"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751713"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Medulloblastoma (MB) is an embryonic tumor of the neuroepithelial tissue and the most frequent primary pediatric solid malignancy. MB represents a heterogeneous group of cerebellar tumors characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia."@en; "orphanet"@en; "ICD-10:C71.6", "MeSH:D008527", "MedDRA:10027107", "OMIM:155255", "UMLS:C0025149"; rdfs:label "Medulloblastoma"@en; "ORPHA:616" . _:10f7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C71.6"; "NTBT (narrower term maps to a broader term)"@en . _:10f7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008527"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027107"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155255"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10f84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025149"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family."; ; , , , ; , , ; "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family."@en; "orphanet"@en; "DOID:6846", "GARD:0003460", "ICD-10:C43.0", "ICD-10:C43.1", "ICD-10:C43.2", "ICD-10:C43.3", "ICD-10:C43.4", "ICD-10:C43.5", "ICD-10:C43.6", "ICD-10:C43.7", "ICD-10:C43.8", "ICD10:C43", "ICD10:C43.0", "ICD10:C43.1", "ICD10:C43.2", "ICD10:C43.3", "ICD10:C43.4", "ICD10:C43.5", "ICD10:C43.6", "ICD10:C43.7", "ICD10:C43.8", "MONDO:0018961", "NCIT:C8498", "OMIM:155600", "OMIM:155601", "OMIM:155700", "OMIM:608035", "OMIM:609048", "OMIM:613099", "OMIM:613972", "OMIM:615134", "OMIM:615848", "UMLS:C2314896"; "familial melanoma", "hereditary melanoma (disease)"; "Orphanet:618"; , ; rdfs:label "Familial melanoma", "Familial melanoma"@en; "ORPHA:618" . _:10f93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family."; "Orphanet:618" . _:10f95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:618" . _:10f96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:618" . _:10f98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:618" . _:10f9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:6846"; "MONDO:equivalentTo" . _:10f9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003460"; "MONDO:equivalentTo" . _:10f9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.0"; "BTNT (broader term maps to a narrower term)"@en . _:10f9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.0"; "Specific code (The term has its own code in the ICD10)"@en . _:10f9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.1"; "BTNT (broader term maps to a narrower term)"@en . _:10fa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.1"; "Specific code (The term has its own code in the ICD10)"@en . _:10fa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.2"; "BTNT (broader term maps to a narrower term)"@en . _:10fa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.2"; "Specific code (The term has its own code in the ICD10)"@en . _:10fa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.3"; "BTNT (broader term maps to a narrower term)"@en . _:10fa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.3"; "Specific code (The term has its own code in the ICD10)"@en . _:10fa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.4"; "BTNT (broader term maps to a narrower term)"@en . _:10faad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.4"; "Specific code (The term has its own code in the ICD10)"@en . _:10facd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.5"; "BTNT (broader term maps to a narrower term)"@en . _:10fadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.5"; "Specific code (The term has its own code in the ICD10)"@en . _:10faed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.6"; "BTNT (broader term maps to a narrower term)"@en . _:10fafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.6"; "Specific code (The term has its own code in the ICD10)"@en . _:10fb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.7"; "BTNT (broader term maps to a narrower term)"@en . _:10fb1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26326; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26326 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.7"; "Specific code (The term has its own code in the ICD10)"@en . _:10fb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.8"; "BTNT (broader term maps to a narrower term)"@en . _:10fb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C43.8"; "Specific code (The term has its own code in the ICD10)"@en . _:10fb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.0"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.1"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.2"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.3"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.4"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.5"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.6"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.7"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C43.8"; "ORDO:618/btnt", "ORDO:618/specific", "Orphanet:618" . _:10fbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C8498"; "DOID:6846", "MONDO:equivalentTo" . _:10fc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155600"; "NTBT (narrower term maps to a broader term)"@en . _:10fc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155601"; "BTNT (broader term maps to a narrower term)"@en . _:10fc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155700"; "BTNT (broader term maps to a narrower term)"@en . _:10fc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608035"; "BTNT (broader term maps to a narrower term)"@en . _:10fc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609048"; "BTNT (broader term maps to a narrower term)"@en . _:10fc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613099"; "BTNT (broader term maps to a narrower term)"@en . _:10fc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613972"; "BTNT (broader term maps to a narrower term)"@en . _:10fc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615134"; "BTNT (broader term maps to a narrower term)"@en . _:10fc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615848"; "BTNT (broader term maps to a narrower term)"@en . _:10fcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2314896"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10fcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2314896"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:618" . _:10fd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial melanoma"; rdfs:comment "preferred label from MONDO" . _:10fd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary melanoma (disease)"; "MONDO:patterns/hereditary" . _:10fd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:618" . a owl:Class; rdfs:subClassOf , , , , , , ; "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).", "v1)."; , , ; "Functional methionine synthase deficiency"@en, "Methylcobalamin deficiency"@en; "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)."@en; "orphanet", "orphanet"@en; "ICD-10:E72.1", "ICD10:E72.1", "MONDO:0018964", "OMIM:236270", "OMIM:250940", "OMIM:277410", "SCTID:721225009", "UMLS:C4303479"; "Functional methionine synthase deficiency", "Methylcobalamin deficiency", "functional methionine synthase deficiency", "homocystinuria without methylmalonic aciduria", "methylcobalamin deficiency"; "Orphanet:622"; ; rdfs:label "Homocystinuria without methylmalonic aciduria", "Homocystinuria without methylmalonic aciduria"@en; "ORPHA:622" . _:10fdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)."; "Orphanet:622" . _:10fdcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26355; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26355 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:10fddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:10fded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:622/attributed", "ORDO:622/ntbt", "Orphanet:622" . _:10fe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236270"; "BTNT (broader term maps to a narrower term)"@en . _:10fe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:250940"; "BTNT (broader term maps to a narrower term)"@en . _:10fe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277410"; "BTNT (broader term maps to a narrower term)"@en . _:10fe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721225009"; "MONDO:equivalentTo" . _:10fe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4303479"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:10fe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "functional methionine synthase deficiency"; "Orphanet:622" . _:10fecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "homocystinuria without methylmalonic aciduria"; rdfs:comment "preferred label from MONDO" . _:10feed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylcobalamin deficiency"; "Orphanet:622" . _:10ff0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:622" . a owl:Class; rdfs:subClassOf , , ; "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation."; "Congenital pigmented nevus"@en, "GMN"@en, "Giant congenital melanocytic nevus"@en, "Giant pigmented hairy nevus"@en, "LCMN"@en; "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation."@en; "orphanet", "orphanet"@en; "ICD-10:Q82.5", "ICD10:D22", "MedDRA:10072036", "OMIM:137550", "UMLS:C1318558", "UMLS:C1842036"; "Congenital pigmented nevus", "GMN", "Giant congenital melanocytic nevus", "Giant pigmented hairy nevus", "LCMN"; rdfs:label "Large congenital melanocytic nevus", "Large congenital melanocytic nevus"@en; "ORPHA:626" . _:10ff8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26368; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26368 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.5"; "Attributed"@en . _:10ffad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.5"; "NTBT (narrower term maps to a broader term)"@en . _:10ffbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10072036"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10ffdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:10fffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137550"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11000d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1318558"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11001d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1842036"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , ; "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities."; , ; , , , , , ; "Alport deafness-nephropathy"@en; "Alport syndrome (AS) is an inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane."@en; "orphanet"@en; "DOID:10983", "ICD-10:Q87.8", "ICD10:Q87.8", "ICD10:Q87.81", "MONDO:0018965", "MSH:D009394", "MeSH:D009394", "MedDRA:10001843", "NCIT:C34842", "OMIM:104200", "OMIM:203780", "OMIM:301050", "UMLS:C1567741"; "Alport deafness-nephropathy", "Alport syndrome", "Alport's syndrome", "hereditary nephritis"; "Orphanet:63"; ; rdfs:label "Alport syndrome", "Alport syndrome"@en; "ORPHA:63" . _:1100dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities."; "NCIT:C34842" . _:1100ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10983"; "MONDO:equivalentTo" . _:1100fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26378; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26378 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11011d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:11012d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:63/inclusion", "ORDO:63/ntbt", "Orphanet:63" . _:11015d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.81"; "MONDO:equivalentTo" . _:11018d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009394"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1101cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001843"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1101dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001843"; "ORDO:63/e", "Orphanet:63" . _:1101fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34842"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.78/0.06" . _:11020d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:104200"; "BTNT (broader term maps to a narrower term)"@en . _:11021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:203780"; "BTNT (broader term maps to a narrower term)"@en . _:11022d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301050"; "BTNT (broader term maps to a narrower term)"@en . _:11024d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1567741"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11026d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1567741"; "MONDO:equivalentTo", "NCIT:C34842", "ORDO:63/e", "Orphanet:63" . _:11027d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alport deafness-nephropathy"; "Orphanet:63" . _:11029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alport syndrome"; rdfs:comment "preferred label from MONDO" . _:1102cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alport's syndrome"; "NCIT:C34842" . _:1102dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary nephritis"; "DOID:10983", "NCIT:C34842" . _:1102ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:63" . a owl:Class; rdfs:subClassOf , ; "Congenital IGHD"@en, "Congenital isolated GH deficiency"@en, "Congenital isolated growth hormone deficiency"@en; "ICD-10:E23.0", "ICD10:E23.0", "MedDRA:10035083", "OMIM:173100", "OMIM:262400", "OMIM:262650", "OMIM:300123", "OMIM:307200", "OMIM:612781", "UMLS:C0013338", "UMLS:C0271561"; "Congenital IGHD", "Congenital isolated GH deficiency", "Congenital isolated growth hormone deficiency"; rdfs:label "Non-acquired isolated growth hormone deficiency", "Non-acquired isolated growth hormone deficiency"@en; "ORPHA:631" . _:11033d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26397; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26397 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11034d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:11036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10035083"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:173100"; "BTNT (broader term maps to a narrower term)"@en . _:11039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:262400"; "BTNT (broader term maps to a narrower term)"@en . _:1103ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:262650"; "BTNT (broader term maps to a narrower term)"@en . _:1103bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300123"; "BTNT (broader term maps to a narrower term)"@en . _:1103cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307200"; "BTNT (broader term maps to a narrower term)"@en . _:1103ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612781"; "BTNT (broader term maps to a narrower term)"@en . _:1103fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013338"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11040d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271561"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration."; , , , , , ; "Complete growth hormone insensitivity"@en, "GH receptor deficiency"@en, "Growth hormone receptor deficiency"@en, "Laron-type dwarfism"@en, "Primary GH insensitivity"@en, "Primary GH resistance"@en, "Primary growth hormone insensitivity"@en, "Primary growth hormone resistance"@en, "Short stature due to growth hormone resistance"@en; "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration."@en; "orphanet", "orphanet"@en; "DOID:9521", "GARD:0006859", "ICD-10:E34.3", "ICD10:E34.3", "MESH:D046150", "MONDO:0009877", "MSH:D046150", "MeSH:D046150", "NCIT:C130994", "OMIM:262500", "SCTID:38196001", "UMLS:C0271568"; "Complete growth hormone insensitivity", "GH receptor deficiency", "Growth hormone receptor deficiency", "Laron syndrome", "Laron-type dwarfism", "Laron-type isolated somatotropin defect", "Primary GH insensitivity", "Primary GH resistance", "Primary growth hormone insensitivity", "Primary growth hormone resistance", "Short stature due to growth hormone resistance", "complete growth hormone insensitivity", "primary GH insensitivity", "primary GH resistance", "primary growth hormone insensitivity", "primary growth hormone resistance", "short stature due to growth hormone resistance"; "Laron dwarfism", "Laron type pituitary dwarfism I", "growth hormone insensitivity syndrome", "pituitary dwarfism 2", "pituitary dwarfism II"; "Orphanet:633"; ; rdfs:label "Laron syndrome", "Laron syndrome"@en; "ORPHA:633" . _:11046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration."; "Orphanet:633" . _:11047d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9521"; "MONDO:equivalentTo" . _:11048d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006859"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:1104ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26412; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.3"; "Attributed"@en . _:1104cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.3"; "NTBT (narrower term maps to a broader term)"@en . _:1104ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.3"; "DOID:9521", "ORDO:633/attributed", "ORDO:633/ntbt", "Orphanet:633" . _:11050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D046150"; "DOID:9521", "MONDO:equivalentTo", "ORDO:633/e", "Orphanet:633" . _:11052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D046150"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C130994"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.24" . _:11055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:262500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11056d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:262500"; "DOID:9521", "MONDO:equivalentTo", "ORDO:633/e", "Orphanet:633" . _:11059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:38196001"; "DOID:9521", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:1105dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271568"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1105ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GH receptor deficiency"; "Orphanet:633" . _:11060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth hormone receptor deficiency"; "OMIM:262500", "Orphanet:633" . _:11066d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laron syndrome"; "OMIM:262500" . _:11067d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laron syndrome"; rdfs:comment "preferred label from MONDO" . _:1106bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laron-type dwarfism"; "Orphanet:633" . _:1106cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laron-type isolated somatotropin defect"; "DOID:9521" . _:1106dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complete growth hormone insensitivity"; "Orphanet:633" . _:1106ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary GH insensitivity"; "Orphanet:633" . _:11071d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary GH resistance"; "Orphanet:633" . _:11072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary growth hormone insensitivity"; "Orphanet:633" . _:11073d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary growth hormone resistance"; "Orphanet:633" . _:11074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short stature due to growth hormone resistance"; "Orphanet:633" . _:11075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laron dwarfism"; "GARD:0006859" . _:11078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Laron type pituitary dwarfism I"; "GARD:0006859" . _:1107bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "growth hormone insensitivity syndrome"; "OMIM:262500" . _:1107cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary dwarfism 2"; "OMIM:262500" . _:1107ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary dwarfism II"; "GARD:0006859" . _:11080d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:633" . a owl:Class; rdfs:subClassOf , , , , , ; "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations."; , , , , ; , , , , , , ; "Bamboo hair syndrome"@en, "Comèl-Netherton syndrome"@en, "NS"@en; "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations."@en; "orphanet"@en; "DOID:0050474", "GARD:0007182", "ICD-10:Q80.8", "ICD10:Q80.3", "ICD10:Q80.8", "MESH:D056770", "MONDO:0009735", "MedDRA:10062909", "NCIT:C84922", "OMIM:256500", "SCTID:312514006", "UMLS:C0265962"; "Bamboo hair syndrome", "CoMèl-Netherton syndrome", "ComC(l-Netherton syndrome", "Comèl-Netherton syndrome", "NS", "Netherton syndrome", "bamboo hair syndrome"; "Comel-Netherton syndrome", "Netherton disease", "Netherton syndrome; neth", "Ns", "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE", "neth"; "Orphanet:634"; , ; rdfs:label "Netherton syndrome", "Netherton syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome"^^xsd:anyURI; "ORPHA:634" . _:110afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations."; "Orphanet:634" . _:110b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050474"; "MONDO:equivalentTo" . _:110b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007182"; "MONDO:equivalentTo" . _:110b4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26444; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26444 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.8"; "Attributed"@en . _:110b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.8"; "NTBT (narrower term maps to a broader term)"@en . _:110b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q80.8"; "ORDO:634/attributed", "ORDO:634/ntbt", "Orphanet:634" . _:110bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056770"; "DOID:0050474", "MONDO:equivalentTo", "MONDO:ontobio" . _:110bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062909"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:110bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062909"; "ORDO:634/e", "Orphanet:634" . _:110bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84922"; "DOID:0050474", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.78/0.06" . _:110c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:110c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256500"; "DOID:0050474", "MONDO:equivalentTo", "ORDO:634/e", "Orphanet:634" . _:110c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:312514006"; "DOID:0050474", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.38" . _:110c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265962"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:110c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CoMèl-Netherton syndrome"; "Orphanet:634" . _:110cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ComC(l-Netherton syndrome"; "Orphanet:634" . _:110ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NS"; "Orphanet:634" . _:110cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Netherton syndrome"; "MONDO:Lexical", "OMIM:256500" . _:110cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Netherton syndrome"; rdfs:comment "preferred label from MONDO" . _:110d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bamboo hair syndrome"; "Orphanet:634" . _:110d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Comel-Netherton syndrome"; "OMIM:256500" . _:110d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Netherton disease"; "OMIM:256500" . _:110d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Netherton syndrome; neth"; "OMIM:256500" . _:110d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ns"; "OMIM:256500" . _:110d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE"; "OMIM:256500" . _:110d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neth"; "MONDO:Lexical", "OMIM:256500" . _:110dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007182" . _:110dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:634" . _:110ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome"^^xsd:anyURI; "GARD:0007182" . a owl:Class; rdfs:subClassOf ; "Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children."@en; "orphanet"@en; "ICD-10:C74.9", "MeSH:C536408", "MeSH:D009447", "MedDRA:10029260", "OMIM:256700", "OMIM:613013", "OMIM:613014", "OMIM:613015", "OMIM:613016", "OMIM:613017", "OMIM:616792", "UMLS:C0027819", "UMLS:C2931189"; rdfs:label "Neuroblastoma"@en; "ORPHA:635" . _:110dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C74.9"; "NTBT (narrower term maps to a broader term)"@en . _:110e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536408"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:110e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009447"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:110e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029260"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:110e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256700"; "BTNT (broader term maps to a narrower term)"@en . _:110e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613013"; "BTNT (broader term maps to a narrower term)"@en . _:110e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613014"; "BTNT (broader term maps to a narrower term)"@en . _:110e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613015"; "BTNT (broader term maps to a narrower term)"@en . _:110ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613016"; "BTNT (broader term maps to a narrower term)"@en . _:110ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613017"; "BTNT (broader term maps to a narrower term)"@en . _:110edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616792"; "BTNT (broader term maps to a narrower term)"@en . _:110f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027819"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:110f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931189"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , , ; "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.", "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas."; , , , , , , , ; , ; "NF1"@en, "Von Recklinghausen disease"@en; "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas."@en; "orphanet", "orphanet"@en; "COHD:377252", "GARD:0007866", "ICD-10:Q85.0", "ICD10:Q85.0", "ICD9:237.71", "MESH:D009456", "MONDO:0018975", "MSH:C538607", "MSH:D009456", "MeSH:C538607", "MeSH:D009456", "MedDRA:10047712", "NCIT:C3273", "OMIM:162200", "OMIM:162210", "OMIM:193520", "OMIM:613675", "SCTID:92824003", "UMLS:C0027831"; "NF1", "Von Recklinghausen disease", "neurofibromatosis", "neurofibromatosis 1", "neurofibromatosis type 1", "neurofibromatosis type 1 microdeletion syndrome", "neurofibromatosis, type 1", "peripheral neurofibromatosis", "von Reklinghausen disease"; "Recklinghausen's disease", "neurofibromatosis, peripheral type", "neurofibromatosis, type I", "neurofibromatosis, type I; NF1", "type 1 neurofibromatosis"; "Orphanet:636"; ; rdfs:label "Neurofibromatosis type 1", "Neurofibromatosis type 1"@en; "ORPHA:636" . _:110fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas."; "Orphanet:636" . _:110fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:636" . _:110ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:636" . _:11101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:377252"; "MONDO:equivalentTo" . _:11102d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007866"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11104d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26489; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26489 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1110dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.0"; "NTBT (narrower term maps to a broader term)"@en . _:1110ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.0"; "ORDO:636/inclusion", "ORDO:636/ntbt", "Orphanet:636" . _:11113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.71"; "MONDO:equivalentTo", "i2s" . _:11116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009456"; "DOID:8712", "MONDO:equivalentTo", "ORDO:636/e", "Orphanet:636" . _:11118d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538607"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11119d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009456"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1111ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047712"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1111bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047712"; "ORDO:636/e", "Orphanet:636" . _:1111cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3273"; "DOID:8712", "MONDO:equivalentTo" . _:1111dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162200"; "BTNT (broader term maps to a narrower term)"@en . _:1111fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162200"; "DOID:8712", "MONDO:equivalentTo", "MONDO:superClassOf", "ORDO:636/btnt", "Orphanet:636" . _:11120d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162210"; "BTNT (broader term maps to a narrower term)"@en . _:11121d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:193520"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11122d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613675"; "BTNT (broader term maps to a narrower term)"@en . _:11123d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:92824003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11124d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027831"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11126d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027831"; "DOID:8712", "MONDO:equivalentTo", "NCIT:C3273", "OMIM:162200", "ORDO:636/e", "Orphanet:636" . _:1112bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NF1"; "MONDO:Lexical", "NCIT:C3273", "OMIM:162200", "Orphanet:636" . _:1112cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Von Recklinghausen disease"; "NCIT:C3273", "OMIM:162200", "Orphanet:636" . _:1112dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis"; "NCIT:C3273" . _:1112ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis 1"; "NCIT:C3273" . _:11130d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 1"; "NCIT:C3273" . _:11132d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 1"; rdfs:comment "preferred label from MONDO" . _:11134d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 1 microdeletion syndrome"; "NCIT:C3273" . _:11135d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis, type 1"; "MONDO:0008077" . _:11137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral neurofibromatosis"; "NCIT:C3273" . _:11138d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Reklinghausen disease"; "DOID:8712" . _:1113bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Recklinghausen's disease"; "GARD:0007866" . _:1113dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis, peripheral type"; "OMIM:162200" . _:1113ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis, type I"; "MONDO:Lexical", "OMIM:162200" . _:11141d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis, type I; NF1"; "OMIM:162200" . _:11143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type 1 neurofibromatosis"; "GARD:0007866" . _:11144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:636" . a owl:Class; rdfs:subClassOf , , ; "Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas."; , , ; , , , , , , , , , ; "Bilateral acoustic neurofibromatosis"@en, "Central neurofibromatosis"@en, "NF2"@en; "Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas."@en; "orphanet"@en; "COHD:380975", "GARD:0007193", "ICD-10:Q85.0", "ICD10:Q85.0", "ICD10:Q85.02", "ICD9:237.72", "MONDO:0007039", "MSH:D009464", "MSH:D016518", "MeSH:D009464", "MeSH:D016518", "MedDRA:10000523", "MedDRA:10029271", "NCIT:C3274", "OMIM:101000", "SCTID:92503002", "UMLS:C0027832", "UMLS:C0027859", "UMLS:C1136041"; "Familial acoustic neurinoma", "Familial acoustic neuroma", "Familial vestibular schwannoma", "NF2", "acoustic neurofibromatosis", "bilateral acoustic neurofibromatosis", "central neurofibromatosis", "neurofibromatosis 2", "neurofibromatosis type 2"; "acoustic Schwannomas, bilateral", "acoustic neurinoma bilateral", "acoustic neurinoma, bilateral", "acoustic schwannomas bilateral", "neurofibromatosis central type", "neurofibromatosis type II", "neurofibromatosis, central type", "neurofibromatosis, type 2", "neurofibromatosis, type II", "neurofibromatosis, type II; NF2"; "Orphanet:637"; , ; rdfs:label "Neurofibromatosis type 2", "Neurofibromatosis type 2"@en; "ORPHA:637" . _:11152d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas."; "Orphanet:637" . _:11153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:380975"; "MONDO:equivalentTo" . _:11155d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007193"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11157d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26527; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26527 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.0"; "Attributed"@en . _:11159d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.0"; "NTBT (narrower term maps to a broader term)"@en . _:1115bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.0"; "ORDO:637/attributed", "ORDO:637/ntbt", "Orphanet:637" . _:1115cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.02"; "MONDO:equivalentTo" . _:1115dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.72"; "MONDO:equivalentTo", "i2s" . _:1115fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009464"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11160d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016518"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000523"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000523"; "ORDO:637/e", "Orphanet:637" . _:11163d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029271"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11164d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029271"; "ORDO:637/e", "Orphanet:637" . _:11165d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3274"; "MONDO:equivalentTo" . _:11166d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:101000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11169d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:101000"; "MONDO:equivalentTo", "ORDO:637/e", "Orphanet:637" . _:1116cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:92503002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:1116fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027832"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027832"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3274", "OMIM:101000", "ORDO:637/e", "Orphanet:637" . _:11171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027859"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1136041"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11175d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NF2"; "MONDO:Lexical", "NCIT:C3274", "OMIM:101000", "Orphanet:637" . _:11179d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acoustic neurofibromatosis"; "NCIT:C3274" . _:1117ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bilateral acoustic neurofibromatosis"; "NCIT:C3274", "OMIM:101000", "Orphanet:637" . _:1117dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central neurofibromatosis"; "NCIT:C3274", "Orphanet:637" . _:11180d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis 2"; "NCIT:C3274" . _:11181d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 2"; "NCIT:C3274" . _:11182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 2"; rdfs:comment "preferred label from MONDO" . _:11183d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acoustic Schwannomas, bilateral"; "OMIM:101000" . _:11185d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acoustic neurinoma bilateral"; "GARD:0007193" . _:11186d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acoustic neurinoma, bilateral"; "OMIM:101000" . _:11187d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acoustic schwannomas bilateral"; "GARD:0007193" . _:11189d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis central type"; "GARD:0007193" . _:1118bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type II"; "GARD:0007193" . _:1118dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis, central type"; "OMIM:101000" . _:1118ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis, type 2"; "OMIM:101000" . _:11190d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis, type II"; "MONDO:Lexical", "OMIM:101000" . _:11192d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis, type II; NF2"; "OMIM:101000" . _:11195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:637" . a owl:Class; rdfs:subClassOf , , , ; "Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1; see this term) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS; see this term), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)."; , , , , , , ; ; "NFNS"@en, "Neurofibromatosis type 1-Noonan syndrome"@en; "Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS)."@en; "orphanet"@en; "GARD:0000372", "ICD-10:Q87.1", "ICD10:Q87.1", "MESH:C537393", "MONDO:0011035", "MSH:C537393", "MSH:D009456", "MeSH:C537393", "MeSH:D009456", "OMIM:601321", "SCTID:715344006", "UMLS:C0553586", "UMLS:C2931482"; "NFNS", "Neurofibromatosis type 1-Noonan syndrome", "neurofibromatosis type 1-Noonan syndrome", "neurofibromatosis-Noonan syndrome"; "Noonan neurofibromatosis syndrome", "Noonan-neurofibromatosis syndrome", "neurofibromatosis with Noonan phenotype", "neurofibromatosis-Noonan syndrome; NFNS"; "Orphanet:638"; , ; rdfs:label "Neurofibromatosis-Noonan syndrome", "Neurofibromatosis-Noonan syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome"^^xsd:anyURI; "ORPHA:638" . _:1119cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1; see this term) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS; see this term), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)."; "Orphanet:638" . _:1119ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:638" . _:1119fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000372"; "MONDO:equivalentTo" . _:111a1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26568; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26568 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:111a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:111a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:638/attributed", "ORDO:638/ntbt", "Orphanet:638" . _:111a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537393"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:638/e", "Orphanet:638" . _:111a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537393"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:111a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009456"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:111a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601321"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:111a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601321"; "MONDO:equivalentTo", "ORDO:638/e", "Orphanet:638" . _:111acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715344006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.70" . _:111add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0553586"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:111aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931482"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:111afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFNS"; "MONDO:Lexical", "OMIM:601321", "Orphanet:638" . _:111b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 1-Noonan syndrome"; "Orphanet:638" . _:111b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis-Noonan syndrome"; "MONDO:Lexical", "OMIM:601321" . _:111b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis-Noonan syndrome"; rdfs:comment "preferred label from MONDO" . _:111b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan neurofibromatosis syndrome"; "GARD:0000372" . _:111e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan-neurofibromatosis syndrome"; "OMIM:601321" . _:111e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis with Noonan phenotype"; "OMIM:601321" . _:111e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis-Noonan syndrome; NFNS"; "OMIM:601321" . _:111edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000372" . _:111eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:638" . _:111f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome"^^xsd:anyURI; "GARD:0000372" . a owl:Class; rdfs:subClassOf , , , , , ; "Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction."; "Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction."@en; "orphanet", "orphanet"@en; "ICD-10:Q87.8", "ICD10:Q87.8", "MSH:D056769", "MeSH:D056769", "MedDRA:10068783", "OMIM:203800", "UMLS:C0268425"; rdfs:label "Alström syndrome", "Alström syndrome"@en; "ORPHA:64" . _:111f3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26591; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26591 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:111f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:111f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D056769"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:111f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068783"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:111f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:203800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:111fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268425"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "MMN"@en, "MMNCB"@en, "Multifocal motor neuropathy with conduction block"@en; "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping."@en; "orphanet"@en; "ICD-10:G61.8", "UMLS:C0393847"; rdfs:label "Multifocal motor neuropathy"@en; "ORPHA:641" . _:111fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G61.8"; "NTBT (narrower term maps to a broader term)"@en . _:111fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0393847"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment."; , , , ; "Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders."@en; "orphanet"@en; "NPC"; "ICD-10:E75.2", "ICD10:E75.2", "MESH:D052556", "MONDO:0018982", "MSH:D052556", "MeSH:D052556", "OMIM:257220", "OMIM:607625", "SCTID:66751000", "UMLS:C0220756"; "Niemann-Pick disease type C"; "Orphanet:646"; ; rdfs:label "Niemann-Pick disease type C", "Niemann-Pick disease type C"@en; "ORPHA:646" . _:11207d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment."; "PMID:21502308" . _:11208d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPC"; "PMID:21502308" . _:1120ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26602; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1120bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "NTBT (narrower term maps to a broader term)"@en . _:1120cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.2"; "ORDO:646/inclusion", "ORDO:646/ntbt", "Orphanet:646" . _:1120ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D052556"; "MONDO:equivalentTo", "ORDO:646/e", "Orphanet:646" . _:11211d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D052556"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11212d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:257220"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607625"; "BTNT (broader term maps to a narrower term)"@en . _:11216d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:66751000"; "MONDO:equivalentTo" . _:11218d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0220756"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11219d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease type C"; rdfs:comment "preferred label from MONDO" . _:1121ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:646" . a owl:Class; rdfs:subClassOf , , , , , ; "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections."; ; , , , , , , , , , , ; "AT V1"@en, "Ataxia-telangiectasia, variant 1"@en, "Berlin breakage syndrome"@en, "Immunodeficiency-microcephaly-chromosomal instability syndrome"@en, "Microcephaly-immunodeficiency-lymphoreticuloma syndrome"@en, "NBS"@en, "Seemanova syndrome type 2"@en; "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections."@en; "orphanet", "orphanet"@en; "DOID:7400", "GARD:0003904", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:D049932", "MONDO:0009623", "MSH:C531759", "MSH:D049932", "MeSH:C531759", "MeSH:D049932", "MedDRA:10067857", "NCIT:C4692", "OMIM:251260", "SCTID:234638009", "UMLS:C0398791", "UMLS:C2930831", "UMLS:CN860323"; "AT V1", "Ataxia-telangiectasia, variant 1", "Berlin breakage syndrome", "Immunodeficiency - microcephaly - chromosomal instability", "Microcephaly - immunodeficiency - lymphoreticuloma", "NBS", "NBs", "Nijmegen breakage syndrome", "Seemanova syndrome", "Seemanova syndrome type 2", "ataxia-telangiectasia, variant 1", "immunodeficiency-microcephaly-chromosomal instability syndrome", "microcephaly, normal intelligence and immunodeficiency", "microcephaly-immunodeficiency-lymphoreticuloma syndrome"; "Nijmegen breakage syndrome; NBs", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "Nonsyndromal microcephaly, autosomal recessive, with Normal intelligence", "Seemanova syndrome 2", "ataxia-telangiectasia variant V1", "ataxia-telangiectasia variant V2", "immunodeficiency, microcephaly, and chromosomal instability", "microcephaly immunodeficiency lymphoreticuloma", "microcephaly with Normal intelligence, immunodeficiency, and lymphoreticular malignancies", "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies"; "Orphanet:647"; , ; rdfs:label "Nijmegen breakage syndrome", "Nijmegen breakage syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome"^^xsd:anyURI; "ORPHA:647" . _:1122ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections."; "Orphanet:647" . _:1122bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:7400"; "MONDO:equivalentTo" . _:1122cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003904"; "MONDO:equivalentTo" . _:1122dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26617; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26617 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:1122ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:1122fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:647/attributed", "ORDO:647/ntbt", "Orphanet:647" . _:11230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D049932"; "DOID:7400", "MONDO:equivalentTo", "ORDO:647/e", "Orphanet:647" . _:11231d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C531759"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1123ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D049932"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1123cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067857"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1123dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067857"; "ORDO:647/e", "Orphanet:647" . _:1123fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C4692"; "DOID:7400", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:11241d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251260"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11242d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:251260"; "DOID:7400", "MONDO:equivalentTo", "ORDO:647/e", "Orphanet:647" . _:11244d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234638009"; "DOID:7400", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11245d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398791"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11246d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398791"; "DOID:7400", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C4692", "OMIM:251260", "ORDO:647/e", "Orphanet:647" . _:11247d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2930831"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11248d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN860323"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:1124cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AT V1"; "Orphanet:647" . _:1124dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Berlin breakage syndrome"; "DOID:7400", "OMIM:251260", "Orphanet:647" . _:1124fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBs"; "Orphanet:647" . _:11250d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nijmegen breakage syndrome"; "OMIM:251260" . _:11252d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nijmegen breakage syndrome"; rdfs:comment "preferred label from MONDO" . _:11254d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Seemanova syndrome"; "CSP2005:5005-0018", "DOID:7400" . _:11255d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Seemanova syndrome type 2"; "Orphanet:647" . _:11256d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia-telangiectasia, variant 1"; "Orphanet:647" . _:11257d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency-microcephaly-chromosomal instability syndrome"; "Orphanet:647" . _:11258d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly, normal intelligence and immunodeficiency"; "DOID:7400" . _:11259d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly-immunodeficiency-lymphoreticuloma syndrome"; "Orphanet:647" . _:1125ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nijmegen breakage syndrome; NBs"; "OMIM:251260" . _:1125bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonsyndromal microcephaly autosomal recessive with normal intelligence"; "GARD:0003904" . _:1125dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonsyndromal microcephaly, autosomal recessive, with Normal intelligence"; "OMIM:251260" . _:1125fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Seemanova syndrome 2"; "OMIM:251260" . _:11261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia-telangiectasia variant V1"; "OMIM:251260" . _:11263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia-telangiectasia variant V2"; "OMIM:251260" . _:11264d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency, microcephaly, and chromosomal instability"; "OMIM:251260" . _:11266d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly immunodeficiency lymphoreticuloma"; "GARD:0003904" . _:11267d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly with Normal intelligence, immunodeficiency, and lymphoreticular malignancies"; "OMIM:251260" . _:11269d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies"; "GARD:0003904" . _:1126bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003904" . _:1126ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:647" . _:1126fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome"^^xsd:anyURI; "GARD:0003904" . a owl:Class; rdfs:subClassOf ; "ICD-10:C34.1", "ICD-10:C34.2", "ICD-10:C34.3", "ICD-10:C34.9", "MeSH:C537516", "OMIM:601200", "UMLS:C1266144"; rdfs:label "Pleuropulmonary blastoma"@en; "ORPHA:64742" . _:11274d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C34.1"; "BTNT (broader term maps to a narrower term)"@en . _:11276d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C34.2"; "BTNT (broader term maps to a narrower term)"@en . _:11278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C34.3"; "BTNT (broader term maps to a narrower term)"@en . _:11279d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C34.9"; "BTNT (broader term maps to a narrower term)"@en . _:1127ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537516"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1127bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1127cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1266144"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Obliterative portal venopathy"@en; "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding."@en; "orphanet"@en; "ICD-10:K74.1"; rdfs:label "Hepatoportal sclerosis"@en; "ORPHA:64743" . _:1127dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K74.1"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , ; "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects."; , , ; , , , , , , ; ; "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects."@en; "orphanet"@en; "DOID:3490", "GARD:0010955", "ICD-10:Q87.1", "ICD10:Q87.1", "ICD9:759.89", "MESH:D009634", "MONDO:0018997", "MSH:D009634", "MeSH:D009634", "MedDRA:10029748", "NCIT:C34854", "OMIM:163950", "OMIM:605275", "OMIM:609942", "OMIM:610733", "OMIM:611553", "OMIM:613224", "OMIM:613706", "OMIM:615355", "OMIM:616559", "OMIM:616564", "OMIMPS:163950", "SCTID:205824006", "UMLS:C0028326"; "Noonan syndrome", "Noonan's syndrome", "Turner's phenotype, karyotype normal"; "Noonan-Ehmke syndrome", "Ullrich-Noonan syndrome", "pseudo-Ullrich-Turner syndrome"; "Orphanet:648"; , ; rdfs:label "Noonan syndrome", "Noonan syndrome"@en; "ORPHA:648" . _:11286d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects."; "Orphanet:648" . _:11289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDO:cjm", "https://en.wikipedia.org/wiki/RASopathy" . _:1128ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3490"; "MONDO:equivalentTo" . _:1128cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010955"; "MONDO:equivalentTo", "Orphanet-shared" . _:11290d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26670; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26670 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11294d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:11295d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "DOID:3490", "ORDO:648/inclusion", "ORDO:648/ntbt", "Orphanet:648" . _:11298d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:1129bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009634"; "DOID:3490", "MONDO:equivalentTo", "ORDO:648/e", "Orphanet:648" . _:1129dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009634"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1129ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029748"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:112a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029748"; "ORDO:648/e", "Orphanet:648" . _:112a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34854"; "DOID:3490", "MONDO:equivalentTo" . _:112a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:163950"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:112a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605275"; "BTNT (broader term maps to a narrower term)"@en . _:112a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609942"; "BTNT (broader term maps to a narrower term)"@en . _:112a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610733"; "BTNT (broader term maps to a narrower term)"@en . _:112a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611553"; "BTNT (broader term maps to a narrower term)"@en . _:112a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613224"; "BTNT (broader term maps to a narrower term)"@en . _:112a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613706"; "BTNT (broader term maps to a narrower term)"@en . _:112a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615355"; "BTNT (broader term maps to a narrower term)"@en . _:112aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616559"; "BTNT (broader term maps to a narrower term)"@en . _:112abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616559"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:112acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616564"; "BTNT (broader term maps to a narrower term)"@en . _:112add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616564"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:112aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:163950"; "DOID:3490", "MONDO:equivalentTo" . _:112b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:205824006"; "DOID:3490", "MONDO:equivalentTo", "MONDO:kboom-pr-0.69/0.36/0.08" . _:112b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0028326"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:112b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0028326"; "DOID:3490", "MONDO:equivalentTo", "NCIT:C34854", "ORDO:648/e", "Orphanet:648" . _:112b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome"; "NCIT:C34854" . _:112b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome"; rdfs:comment "preferred label from MONDO" . _:112b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan's syndrome"; "NCIT:C34854" . _:112b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Turner's phenotype, karyotype normal"; "DOID:3490" . _:112b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan-Ehmke syndrome"; "GARD:0010955" . _:112b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ullrich-Noonan syndrome"; "GARD:0010955" . _:112bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudo-Ullrich-Turner syndrome"; "GARD:0010955" . _:112bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:648" . a owl:Class; rdfs:subClassOf , , , ; "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.", "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life."; , , , , , , ; "Amaurosis congenita of Leber"@en; "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life."@en; "orphanet", "orphanet"@en; "DOID:14791", "GARD:0000634", "ICD-10:H35.5", "ICD10:H35.5", "MESH:D057130", "MONDO:0018998", "MSH:D057130", "MeSH:D057130", "MedDRA:10070667", "NCIT:C129075", "OMIM:179900", "OMIM:204000", "OMIM:204100", "OMIM:604232", "OMIM:604393", "OMIM:604537", "OMIM:608553", "OMIM:610612", "OMIM:611755", "OMIM:612712", "OMIM:613341", "OMIM:613826", "OMIM:613829", "OMIM:613835", "OMIM:613837", "OMIM:613843", "OMIM:614186", "OMIM:615360", "OMIM:617879", "OMIMPS:204000", "SCTID:193413001", "UMLS:C0339527"; "Amaurosis congenita of Leber", "LCA", "Leber congenital amaurosis", "Leber's amaurosis", "Leber's congenital amaurosis", "Leber's disease", "amaurosis congenita of Leber"; "Leber's congenital tapetoretinal degeneration", "Leber's congenital tapetoretinal dysplasia", "congenital absence of the rods and cones", "congenital retinal blindness"; "Orphanet:65"; ; rdfs:label "Leber congenital amaurosis", "Leber congenital amaurosis"@en; "ORPHA:65" . _:112cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life."; "Orphanet:65" . _:112ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14791"; "MONDO:equivalentTo" . _:112d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000634"; "MONDO:equivalentTo", "Orphanet-shared" . _:112d1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26707; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26707 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "Index term"@en . _:112d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "NTBT (narrower term maps to a broader term)"@en . _:112d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "MONDO:directSiblingOf", "ORDO:65/index", "ORDO:65/ntbt", "Orphanet:65" . _:112d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D057130"; "DOID:14791", "MONDO:equivalentTo", "ORDO:65/e", "Orphanet:65" . _:112d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D057130"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:112d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070667"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:112d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070667"; "ORDO:65/e", "Orphanet:65" . _:112fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129075"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:112fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:179900"; "BTNT (broader term maps to a narrower term)"@en . _:112fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:204000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:112ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:204100"; "BTNT (broader term maps to a narrower term)"@en . _:11300d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604232"; "BTNT (broader term maps to a narrower term)"@en . _:11302d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604393"; "BTNT (broader term maps to a narrower term)"@en . _:11303d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604537"; "BTNT (broader term maps to a narrower term)"@en . _:11304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608553"; "BTNT (broader term maps to a narrower term)"@en . _:11305d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610612"; "BTNT (broader term maps to a narrower term)"@en . _:11308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611755"; "BTNT (broader term maps to a narrower term)"@en . _:1130ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612712"; "BTNT (broader term maps to a narrower term)"@en . _:1130cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613341"; "BTNT (broader term maps to a narrower term)"@en . _:1130ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613826"; "BTNT (broader term maps to a narrower term)"@en . _:1130fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613829"; "BTNT (broader term maps to a narrower term)"@en . _:11310d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613835"; "BTNT (broader term maps to a narrower term)"@en . _:11312d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613837"; "BTNT (broader term maps to a narrower term)"@en . _:11314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613843"; "BTNT (broader term maps to a narrower term)"@en . _:11315d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614186"; "BTNT (broader term maps to a narrower term)"@en . _:11316d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615360"; "BTNT (broader term maps to a narrower term)"@en . _:11317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:204000"; "DOID:14791", "MONDO:equivalentTo" . _:11318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:193413001"; "DOID:14791", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.75/0.49" . _:1131ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339527"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1131bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339527"; "DOID:14791", "MONDO:equivalentTo", "NCIT:C129075", "ORDO:65/e", "Orphanet:65" . _:1131cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCA"; "DOID:14791" . _:1131ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leber congenital amaurosis"; rdfs:comment "preferred label from MONDO" . _:1131fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leber's amaurosis"; "DOID:14791" . _:11323d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leber's congenital amaurosis"; "CSP2005:1114-9698", "DOID:14791" . _:11324d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leber's disease"; "CSP2005:5000-0048", "DOID:14791" . _:11325d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "amaurosis congenita of Leber"; "Orphanet:65" . _:11326d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leber's congenital tapetoretinal degeneration"; "GARD:0000634" . _:11327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leber's congenital tapetoretinal dysplasia"; "GARD:0000634" . _:11328d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital absence of the rods and cones"; "GARD:0000634" . _:11329d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital retinal blindness"; "GARD:0000634" . _:1132ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:65" . a owl:Class; rdfs:subClassOf , , , ; "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol."; ; , ; "Lecithin-cholesterol acyltransferase deficiency"@en; "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol."@en; "orphanet", "orphanet"@en; "ICD-10:E78.6", "ICD10:E78.6", "MONDO:0018999", "OMIM:136120", "OMIM:245900", "SCTID:49227001", "UMLS:C0023195"; "LCAT deficiency", "Lecithin-cholesterol acyltransferase deficiency", "lecithin-cholesterol acyltransferase deficiency"; "Orphanet:650"; ; rdfs:label "LCAT deficiency", "LCAT deficiency"@en; "ORPHA:650" . _:11332d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol."; "Orphanet:650" . _:11334d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26750; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26750 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.6"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E78.6"; "NTBT (narrower term maps to a broader term)"@en . _:1133bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E78.6"; "ORDO:650/inclusion", "ORDO:650/ntbt", "Orphanet:650" . _:1133cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:136120"; "BTNT (broader term maps to a narrower term)"@en . _:1133dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:245900"; "BTNT (broader term maps to a narrower term)"@en . _:1133ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:49227001"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.69/0.38/0.06" . _:11341d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023195"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCAT deficiency"; rdfs:comment "preferred label from MONDO" . _:11346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lecithin-cholesterol acyltransferase deficiency"; "Orphanet:650" . _:11349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:650" . a owl:Class; rdfs:subClassOf , , , , , , ; "Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution.", "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients."; , ; , , , , , , , ; "MEN1"@en, "Wermer syndrome"@en; "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients."@en; "orphanet", "orphanet"@en; "COHD:28127", "DOID:10017", "GARD:0003829", "ICD-10:D44.8", "ICD10:D44.8", "ICD10:E31.21", "ICD9:237.4", "ICD9:258.01", "MESH:D018761", "MONDO:0007540", "MSH:D018761", "MeSH:D018761", "MedDRA:10028190", "NCIT:C3225", "OMIM:131100", "SCTID:30664006", "UMLS:C0025267"; "MEA type 1", "MEA type I", "MEN 1", "MEN1", "MEN1 multiple endocrine neoplasia", "MEN1 syndrome", "Wermer syndrome", "Wermer's syndrome", "men 1", "men type 1", "men type I", "multiple endocrine adenomatosis", "multiple endocrine adenomatosis type 1", "multiple endocrine adenomatosis type I", "multiple endocrine adenomatosis, type I", "multiple endocrine neoplasia caused by mutation in MEN1", "multiple endocrine neoplasia type 1", "multiple endocrine neoplasia type 1 syndrome", "multiple endocrine neoplasia type I", "multiple endocrine neoplasia, type I"; "MEA 1", "MEN1", "MEN1 somatic mutations", "endocrine adenomatosis multiple", "endocrine adenomatosis, multiple", "multiple endocrine neoplasia, type 1", "multiple endocrine neoplasia, type I; MEN1"; "Orphanet:652"; , ; rdfs:label "Multiple endocrine neoplasia type 1", "Multiple endocrine neoplasia type 1"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1"^^xsd:anyURI; "ORPHA:652" . _:11356d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients."; "Orphanet:652" . _:11357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:28127"; "MONDO:equivalentTo" . _:11358d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10017"; "MONDO:equivalentTo" . _:1135bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003829"; "MONDO:equivalentTo" . _:1135fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26765; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26765 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Attributed"@en . _:11363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "NTBT (narrower term maps to a broader term)"@en . _:1136cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:subClassOf", "ORDO:652/attributed", "ORDO:652/ntbt", "Orphanet:652" . _:1136dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E31.21"; "DOID:10017" . _:1136ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.4"; "MONDO:relatedTo", "i2s" . _:1136fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:258.01"; "DOID:10017", "MONDO:equivalentTo", "i2s" . _:11370d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018761"; "DOID:10017", "MONDO:equivalentTo", "ORDO:652/e", "Orphanet:652" . _:11371d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018761"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028190"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11375d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028190"; "ORDO:652/e", "Orphanet:652" . _:11379d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3225"; "DOID:10017", "MONDO:equivalentTo" . _:1137ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:131100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1137bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:131100"; "DOID:10017", "MONDO:equivalentTo", "ORDO:652/e", "Orphanet:652" . _:1137fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30664006"; "DOID:10017", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.40" . _:11380d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025267"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11381d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025267"; "DOID:10017", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3225", "OMIM:131100", "ORDO:652/e", "Orphanet:652" . _:11383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEA type 1"; "NCIT:C3225" . _:11385d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEA type I"; "NCIT:C3225" . _:11387d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN1"; "Orphanet:652" . _:11388d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN1 multiple endocrine neoplasia"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:11389d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN1 syndrome"; "NCIT:C3225" . _:1138bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wermer syndrome"; "DOID:10017", "NCIT:C3225", "OMIM:131100", "Orphanet:652" . _:1138dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wermer's syndrome"; "DOID:10017", "MTHICD9_2006:258.0", "NCIT:C3225" . _:1138ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men 1"; "NCIT:C3225" . _:11390d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men type 1"; "NCIT:C3225" . _:11391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "men type I"; "DOID:10017", "NCIT:C3225" . _:11392d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis"; "NCIT:C3225" . _:11393d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis type 1"; "NCIT:C3225" . _:11397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis type I"; "NCIT:C3225" . _:11399d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine adenomatosis, type I"; "NCIT:C3225" . _:1139dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia caused by mutation in MEN1"; "MONDO:design_pattern" . _:1139ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 1"; "DOID:10017", "NCIT:C3225" . _:1139fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 1"; rdfs:comment "preferred label from MONDO" . _:113a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 1 syndrome"; "NCIT:C3225" . _:113a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type I"; "NCIT:C3225" . _:113a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type I"; "MONDO:Lexical", "NCIT:C3225", "OMIM:131100" . _:113a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEA 1"; "OMIM:131100" . _:113a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN1"; "MONDO:Lexical", "OMIM:131100" . _:113a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN1 somatic mutations"; "OMIM:131100" . _:113a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine adenomatosis multiple"; "GARD:0003829" . _:113a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endocrine adenomatosis, multiple"; "OMIM:131100" . _:113a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type 1"; "OMIM:131100" . _:113a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia, type I; MEN1"; "OMIM:131100" . _:113aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003829" . _:113abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:652" . _:113acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1"^^xsd:anyURI; "GARD:0003829" . a owl:Class; rdfs:subClassOf , , , ; "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms).", "Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)."; ; , , , , , ; "MEN2"@en; "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms)."@en; "orphanet", "orphanet"@en; "COHD:24612", "GARD:0003830", "ICD-10:D44.8", "ICD10:D44.8", "ICD9:194.8", "ICD9:258.02", "MONDO:0019003", "MedDRA:10028191", "NCIT:C123329", "OMIM:155240", "OMIM:162300", "OMIM:171400", "SCTID:61808009", "UMLS:C0025268", "UMLS:C4048306", "UMLS:CN073359"; "MEN2", "multiple endocrine neoplasia type 2"; "Orphanet:653"; , ; rdfs:label "Multiple endocrine neoplasia type 2", "Multiple endocrine neoplasia type 2"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2"^^xsd:anyURI; "ORPHA:653" . _:113b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms)."; "Orphanet:653" . _:113b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:24612"; "MONDO:equivalentTo" . _:113bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003830"; "MONDO:equivalentTo" . _:113c0d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26815; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26815 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Attributed"@en . _:113c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "NTBT (narrower term maps to a broader term)"@en . _:113c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:subClassOf", "ORDO:653/attributed", "ORDO:653/ntbt", "Orphanet:653" . _:113c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:194.8"; "MONDO:relatedTo", "i2s" . _:113c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:258.02"; "MONDO:equivalentTo", "i2s" . _:113c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028191"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:113cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028191"; "ORDO:653/e", "Orphanet:653" . _:113cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123329"; "MONDO:equivalentTo", "kboom:pr0.78-conf4.37" . _:113cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155240"; "BTNT (broader term maps to a narrower term)"@en . _:113d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162300"; "BTNT (broader term maps to a narrower term)"@en . _:113d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:171400"; "BTNT (broader term maps to a narrower term)"@en . _:113d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:61808009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.67/0.30/0.18" . _:113d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025268"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:113d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4048306"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C123329" . _:113dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN073359"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:113dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEN2"; "Orphanet:653" . _:113dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 2"; "NCIT:C123329" . _:113e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple endocrine neoplasia type 2"; rdfs:comment "preferred label from MONDO" . _:113e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003830" . _:113e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:653" . _:113e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2"^^xsd:anyURI; "GARD:0003830" . a owl:Class; rdfs:subClassOf , , , , ; "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.", "Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor."; ; , , ; "Renal embryonic tumor"@en, "Wilms tumor"@en; "Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor."@en; "orphanet", "orphanet"@en; "true"; "EFO:1000056", "GARD:0007892", "ICD-10:C64", "ICD10:C64", "MESH:D009396", "MSH:D009396", "MeSH:D009396", "MedDRA:10029145", "NCIT:C3267", "NCIt:C3267", "OMIM:194070", "OMIM:194071", "OMIM:194090", "OMIM:601363", "OMIM:601583", "OMIM:616806", "OMIMPS:194070", "UMLS:C0027708", "UMLS:CL343552", "UMLS:CN244940"; "Renal embryonic tumor", "Wilms tumor", "Wilms tumor (nephroblastoma)", "Wilms' tumor"; "Orphanet:654"; rdfs:label "Nephroblastoma", "Nephroblastoma"@en; "ORPHA:654"; "Wilms' tumor" . _:113e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix."; "NCIT:C3267" . _:113ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1000056"; "MONDO:equivalentTo" . _:113ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007892"; "MONDO:equivalentTo" . _:113ecd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26840; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26840 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C64"; "Index term"@en . _:113edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C64"; "NTBT (narrower term maps to a broader term)"@en . _:113f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009396"; "EFO:1000056", "MONDO:equivalentTo" . _:113f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009396"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:113f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029145"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:113f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3267"; "EFO:1000056", "MONDO:equivalentTo" . _:113fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C3267"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:113fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194070"; "BTNT (broader term maps to a narrower term)"@en . _:113fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194071"; "BTNT (broader term maps to a narrower term)"@en . _:11400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194090"; "BTNT (broader term maps to a narrower term)"@en . _:11403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601363"; "BTNT (broader term maps to a narrower term)"@en . _:11405d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601583"; "BTNT (broader term maps to a narrower term)"@en . _:11406d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616806"; "BTNT (broader term maps to a narrower term)"@en . _:11408d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616806"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1140dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:194070"; "MONDO:cjm", "MONDO:equivalentTo" . _:11411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027708"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11412d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CL343552"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN244940"; "MONDO:equivalentTo" . _:11414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor"; "MONDO:0021044", "NCIT:C3267" . _:11415d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor"; rdfs:comment "preferred label from MONDO" . _:11416d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor (nephroblastoma)"; "NCIT:C3267" . _:11418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms' tumor"; "NCIT:C3267" . _:11419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms' tumor"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , , , , ; "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure."; , ; , , , , ; "Nephronophthisis is a chronic tubulointerstitial nephropathy that progresses to end-stage renal failure."@en; "orphanet"@en; "DOID:12712", "GARD:0000206", "HP:0000090", "ICD-10:Q61.5", "ICD10:Q61.5", "MONDO:0019005", "NCIT:C123200", "OMIM:256100", "OMIM:602088", "OMIM:604387", "OMIM:606966", "OMIM:611498", "OMIM:613159", "OMIM:613820", "OMIM:613824", "OMIM:614377", "OMIM:615382", "OMIM:615862", "OMIM:616217", "OMIM:617271", "OMIMPS:256100", "UMLS:C0687120", "UMLS:C2939174"; "medullary cystic disease", "medullary cystic kidney", "nephronophthisis", "nephronophthisis (disease)"; "Orphanet:655"; , ; rdfs:label "Nephronophthisis", "Nephronophthisis"@en; "ORPHA:655" . _:11443d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure."; "NCIT:P378" . _:11445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12712"; "MONDO:equivalentTo" . _:11446d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000206"; "MONDO:equivalentTo" . _:11447d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000090"; "MONDO:otherHierarchy", "ontobio" . _:11448d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26868; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26868 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "Attributed"@en . _:11449d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.5"; "NTBT (narrower term maps to a broader term)"@en . _:1144bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.5"; "DOID:12712", "ORDO:655/attributed", "ORDO:655/ntbt", "Orphanet:655" . _:1144ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123200"; "DOID:12712", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:11450d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11451d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602088"; "BTNT (broader term maps to a narrower term)"@en . _:11452d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604387"; "BTNT (broader term maps to a narrower term)"@en . _:11453d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606966"; "BTNT (broader term maps to a narrower term)"@en . _:11455d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611498"; "BTNT (broader term maps to a narrower term)"@en . _:11456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613159"; "BTNT (broader term maps to a narrower term)"@en . _:11457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613820"; "BTNT (broader term maps to a narrower term)"@en . _:11459d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613824"; "BTNT (broader term maps to a narrower term)"@en . _:1145ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614377"; "BTNT (broader term maps to a narrower term)"@en . _:1145cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615382"; "BTNT (broader term maps to a narrower term)"@en . _:1145dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615862"; "BTNT (broader term maps to a narrower term)"@en . _:11460d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615862"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11462d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616217"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11463d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617271"; "BTNT (broader term maps to a narrower term)"@en . _:11464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:256100"; "DOID:12712", "MONDO:equivalentTo" . _:11466d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0687120"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11468d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0687120"; "DOID:12712", "MEDGEN:kboom-pr91-c94", "MONDO:equivalentTo", "NCIT:C123200", "Orphanet:655" . _:11474d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2939174"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:11475d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary cystic disease"; "DOID:12712" . _:11476d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medullary cystic kidney"; "DOID:12712", "ICD9CM_2006:753.16" . _:11478d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephronophthisis"; "MONDO:ambiguous" . _:1147bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephronophthisis (disease)"; rdfs:comment "preferred label from MONDO" . _:1147dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:655" . a owl:Class; rdfs:subClassOf , , ; "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset."; , , , , ; "Familial idiopathic nephrotic syndrome"@en; "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset."@en; "orphanet"@en; "ICD-10:N04.1", "ICD-10:N04.3", "ICD-10:N04.8", "ICD10:N04", "ICD10:N04.1", "ICD10:N04.3", "ICD10:N04.8", "MONDO:0019006", "OMIM:256370", "OMIM:600995", "OMIM:603278", "OMIM:603965", "OMIM:607832", "OMIM:610725", "OMIM:612551", "OMIM:613237", "OMIM:614131", "OMIM:614196", "OMIM:615244", "OMIM:615573", "OMIM:615861", "OMIM:616002", "OMIM:616032", "OMIM:616220", "OMIM:616730", "OMIM:616892", "OMIM:616893", "OMIM:617575", "OMIM:617609", "SCTID:718141008", "UMLS:C1868672", "UMLS:C4273714", "UMLS:CN536255"; "Familial idiopathic nephrotic syndrome", "familial idiopathic nephrotic syndrome", "familial idiopathic steroid-resistant nephrotic syndrome"; "Orphanet:656"; ; rdfs:label "Familial idiopathic steroid-resistant nephrotic syndrome", "Familial idiopathic steroid-resistant nephrotic syndrome"@en; "ORPHA:656" . _:11488d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset."; "Orphanet:656" . _:11489d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "Attributed"@en . _:1148ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "BTNT (broader term maps to a narrower term)"@en . _:11492d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.3"; "Attributed"@en . _:11493d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.3"; "BTNT (broader term maps to a narrower term)"@en . _:11496d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26901; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26901 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "Attributed"@en . _:11497d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "BTNT (broader term maps to a narrower term)"@en . _:11498d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.1"; "ORDO:656/attributed", "ORDO:656/btnt", "Orphanet:656" . _:11499d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.3"; "ORDO:656/attributed", "ORDO:656/btnt", "Orphanet:656" . _:1149ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.8"; "ORDO:656/attributed", "ORDO:656/btnt", "Orphanet:656" . _:1149cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256370"; "BTNT (broader term maps to a narrower term)"@en . _:1149dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600995"; "BTNT (broader term maps to a narrower term)"@en . _:1149fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603278"; "BTNT (broader term maps to a narrower term)"@en . _:114a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603965"; "BTNT (broader term maps to a narrower term)"@en . _:114a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607832"; "BTNT (broader term maps to a narrower term)"@en . _:114a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610725"; "BTNT (broader term maps to a narrower term)"@en . _:114a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613237"; "BTNT (broader term maps to a narrower term)"@en . _:114a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614131"; "BTNT (broader term maps to a narrower term)"@en . _:114a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614196"; "BTNT (broader term maps to a narrower term)"@en . _:114aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615244"; "BTNT (broader term maps to a narrower term)"@en . _:114abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615573"; "BTNT (broader term maps to a narrower term)"@en . _:114acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615861"; "NTBT (narrower term maps to a broader term)"@en . _:114add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616002"; "BTNT (broader term maps to a narrower term)"@en . _:114aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616032"; "BTNT (broader term maps to a narrower term)"@en . _:114afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616220"; "BTNT (broader term maps to a narrower term)"@en . _:114b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616730"; "BTNT (broader term maps to a narrower term)"@en . _:114b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616730"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:114b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616892"; "BTNT (broader term maps to a narrower term)"@en . _:114b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616892"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:114b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616893"; "BTNT (broader term maps to a narrower term)"@en . _:114b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616893"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:114b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617575"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:114b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617609"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:114b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718141008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:114b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1868672"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:114bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1868672"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "Orphanet:656" . _:114bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4273714"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:114bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN536255"; "MEDGEN:kboom-pr93-c94", "MONDO:equivalentTo" . _:114bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial idiopathic nephrotic syndrome"; "Orphanet:656" . _:114bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial idiopathic steroid-resistant nephrotic syndrome"; rdfs:comment "preferred label from MONDO" . _:114c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:656" . a owl:Class; rdfs:subClassOf , , , ; "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)."; , ; , , , ; "CHI"@en, "PHHI"@en, "Persistent hyperinsulinemic hypoglycemia of infancy"@en; "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)."@en; "orphanet", "orphanet"@en; "GARD:0003947", "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0019010", "MSH:D044903", "MeSH:D044903", "NCIT:C122923", "UMLS:C0027773", "UMLS:C1257959", "UMLS:C3888018"; "CHI", "PHHI", "Persistent hyperinsulinemic hypoglycemia of infancy", "chi", "congenital isolated hyperinsulinism", "persistent hyperinsulinemic hypoglycemia of infancy"; "congenital hyperinsulinism", "hyperinsulinemic hypoglycemia familial", "hyperinsulinism congenital", "hyperinsulinism familial with pancreatic nesidioblastosis", "hypoglycemia hyperinsulinemic of infancy"; "Orphanet:657"; ; rdfs:label "Congenital isolated hyperinsulinism", "Congenital isolated hyperinsulinism"@en; "ORPHA:657" . _:114c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)."; "Orphanet:657" . _:114cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003947"; "MONDO:equivalentTo", "Orphanet-shared" . _:114ced a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26940; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26940 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:114dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:114ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:657/attributed", "ORDO:657/ntbt", "Orphanet:657" . _:114dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D044903"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:114e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122923"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.21" . _:114e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027773"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:114e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1257959"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:114e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3888018"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:114e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHHI"; "Orphanet:657" . _:114e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chi"; "Orphanet:657" . _:114e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital isolated hyperinsulinism"; rdfs:comment "preferred label from MONDO" . _:114e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "persistent hyperinsulinemic hypoglycemia of infancy"; "Orphanet:657" . _:114e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hyperinsulinism"; "GARD:0003947" . _:114e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia familial"; "GARD:0003947" . _:114ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism congenital"; "GARD:0003947" . _:114ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism familial with pancreatic nesidioblastosis"; "GARD:0003947" . _:114edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoglycemia hyperinsulinemic of infancy"; "GARD:0003947" . _:114eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:657" . a owl:Class; rdfs:subClassOf , ; "Angioneurotic edema"@en, "Bradykinine-induced angioedema"@en, "Non histamine-induced angioedema"@en; "Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain."@en; "orphanet"@en; rdfs:label "Non-histaminic angioedema"@en; "ORPHA:658" . a owl:Class; rdfs:subClassOf ; "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac."@en; "orphanet"@en; "ICD-10:Q79.2", "MedDRA:10030308", "OMIM:164750", "OMIM:310980", "UMLS:C0795690"; rdfs:label "Omphalocele"@en; "ORPHA:660" . _:114f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.2"; "NTBT (narrower term maps to a broader term)"@en . _:114f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10030308"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:114f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:164750"; "BTNT (broader term maps to a narrower term)"@en . _:114f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:310980"; "BTNT (broader term maps to a narrower term)"@en . _:114f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0795690"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients."; ; , , , , , , , ; "CCHS"@en, "Central congenital hypoventilation syndrome"@en, "Congenital central alveolar hypoventilation syndrome"@en, "Ondine curse"@en; "Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients."@en; "orphanet"@en; "DOID:0060731", "GARD:0008535", "ICD-10:G47.3", "ICD10:G47.3", "MONDO:0008852", "MedDRA:10007982", "MedDRA:10066131", "NCIT:C98889", "OMIM:209880", "SCTID:230499002", "UMLS:C1275808"; "CCHS", "Central congenital hypoventilation syndrome", "Congenital central alveolar hypoventilation syndrome", "Ondine curse", "central congenital hypoventilation syndrome", "congenital central alveolar hypoventilation syndrome", "congenital central hypoventilation", "congenital central hypoventilation syndrome", "ondine curse", "ondine syndrome"; "Cchs with Hirschsprung disease", "Haddad syndrome", "autonomic control, congenital failure of", "central hypoventilation syndrome, congenital", "central hypoventilation syndrome, congenital; CCHS", "congenital failure of autonomic control", "congenital ondine curse", "idiopathic congenital central alveolar hypoventilation", "ondine curse (formerly)", "ondine curse, congenital", "ondine's curse (formerly)", "ondine-Hirschsprung disease", "primary alveolar hypoventilation"; "Orphanet:661"; , , ; rdfs:label "Ondine syndrome", "Ondine syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome"^^xsd:anyURI; "ORPHA:661" . _:11502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients."; "Orphanet:661" . _:11503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060731"; "MONDO:equivalentTo" . _:11504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008535"; "MONDO:equivalentTo" . _:11509d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid26967; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid26967 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G47.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1150bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G47.3"; "NTBT (narrower term maps to a broader term)"@en . _:1150cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G47.3"; "DOID:0060731", "MONDO:relatedTo", "ORDO:661/inclusion", "ORDO:661/ntbt", "Orphanet:661" . _:1150ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10007982"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11510d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10007982"; "ORDO:661/e", "Orphanet:661" . _:11515d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066131"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066131"; "ORDO:661/e", "Orphanet:661" . _:11517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98889"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11518d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209880"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209880"; "DOID:0060731", "MONDO:equivalentTo", "ORDO:661/e", "Orphanet:661" . _:1152fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:230499002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.43/0.20" . _:11531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1275808"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1275808"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C98889", "OMIM:209880", "ORDO:661/e", "Orphanet:661" . _:11538d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCHS"; "DOID:0060731", "MONDO:Lexical", "OMIM:209880", "Orphanet:661" . _:1153ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central congenital hypoventilation syndrome"; "DOID:0060731", "Orphanet:661" . _:1153bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital central alveolar hypoventilation syndrome"; "DOID:0060731", "Orphanet:661" . _:1153cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital central hypoventilation"; "NCIT:C98889" . _:1153dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital central hypoventilation syndrome"; rdfs:comment "preferred label from MONDO" . _:1153fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ondine curse"; "DOID:0060731", "Orphanet:661" . _:11540d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ondine syndrome"; "DOID:0060731" . _:11541d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cchs with Hirschsprung disease"; "OMIM:209880" . _:11542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Haddad syndrome"; "OMIM:209880" . _:11543d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autonomic control, congenital failure of"; "OMIM:209880" . _:11544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central hypoventilation syndrome, congenital"; "MONDO:Lexical", "OMIM:209880" . _:11545d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "central hypoventilation syndrome, congenital; CCHS"; "OMIM:209880" . _:11547d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital failure of autonomic control"; "GARD:0008535" . _:11548d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital ondine curse"; "GARD:0008535" . _:1154ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic congenital central alveolar hypoventilation"; "GARD:0008535" . _:1154dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ondine curse (formerly)"; "GARD:0008535" . _:1154fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ondine curse, congenital"; "OMIM:209880" . _:11551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ondine's curse (formerly)"; "GARD:0008535" . _:11552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ondine-Hirschsprung disease"; "OMIM:209880" . _:11554d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary alveolar hypoventilation"; "GARD:0008535" . _:11559d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0008535" . _:1155bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:661" . _:1155dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome"^^xsd:anyURI; "GARD:0008535" . a owl:Class; rdfs:subClassOf , , ; "Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders."; "OCT deficiency"@en, "OTC deficiency"@en, "Ornithine carbamoyltransferase deficiency"@en; "Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications."@en; "orphanet", "orphanet"@en; "ICD-10:E72.4", "ICD10:E72.2", "MSH:D020163", "MeSH:D020163", "MedDRA:10052450", "OMIM:311250", "UMLS:C0268542"; "OCT deficiency", "OTC deficiency", "Ornithine carbamoyltransferase deficiency"; rdfs:label "Ornithine transcarbamylase deficiency", "Ornithine transcarbamylase deficiency"@en; "ORPHA:664" . _:1157dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27004; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27004 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.4"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1157ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.4"; "NTBT (narrower term maps to a broader term)"@en . _:1157fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020163"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10052450"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11581d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:311250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11584d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268542"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay.", "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)."; , , , , , , ; "orphanet"; "DOID:0080053", "GARD:0005770", "GARD:0007486", "ICD10:E20.1", "ICD9:275.49", "MSH:C537045", "NCIT:C129721", "OMIM:103580", "OMIM:612462", "OMIM:612463", "Orphanet:79443", "SCTID:58833000", "UMLS:C2931404", "UMLS:C3494506"; "AHO-PHP syndrome Ia", "Albright hereditary osteodystrophy", "Albright hereditary osteodystrophy with multiple hormone resistance", "Albright hereditary osteodystrophy-PHP syndrome Ia", "Albright's hereditary osteodystrophy", "PHP1A", "pseudohypoparathyroidism type 1A"; "AHO", "PHP 1A", "PHP1A", "pseudohypoparathyroidism, type 1A", "pseudohypoparathyroidism, type IA", "pseudohypoparathyroidism, type IA; PHP1A"; "Orphanet:665"; , ; rdfs:label "Albright hereditary osteodystrophy" . _:1158dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)."; "Orphanet:79443" . _:11590d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080053"; "MONDO:equivalentTo" . _:11591d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005770"; "MONDO:equivalentTo" . _:11595d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007486"; "MONDO:equivalentTo", "Orphanet-shared" . _:11597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.1"; "MONDO:subClassOf", "ORDO:79443/attributed", "ORDO:79443/ntbt", "Orphanet:79443" . _:11599d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.49"; "MONDO:relatedTo", "i2s" . _:1159ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129721"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.75/0.68" . _:1159cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:103580"; "DOID:0080053", "GARD:0005770", "MONDO:equivalentTo", "ORDO:79443/e", "Orphanet:79443" . _:1159dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:79443"; "MONDO:equivalentTo", "OMIM:103580" . _:1159ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:58833000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.48" . _:115a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931404"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:115a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3494506"; "MONDO:equivalentTo", "NCIT:C129721", "OMIM:103580", "ORDO:79443/e", "Orphanet:79443" . _:115a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AHO-PHP syndrome Ia"; "Orphanet:79443" . _:115a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albright hereditary osteodystrophy"; "GARD:0005770" . _:115a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albright hereditary osteodystrophy with multiple hormone resistance"; "NCIT:C129721" . _:115aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albright hereditary osteodystrophy-PHP syndrome Ia"; "Orphanet:79443" . _:115acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albright's hereditary osteodystrophy"; "DOID:0080053" . _:115afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHP1A"; "NCIT:C129721" . _:115b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism type 1A"; "DOID:0080053", "NCIT:C129721" . _:115b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism type 1A"; rdfs:comment "preferred label from MONDO" . _:115b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AHO"; "GARD:0005770" . _:115b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHP 1A"; "OMIM:103580" . _:115b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHP1A"; "MONDO:Lexical", "OMIM:103580" . _:115b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type 1A"; "OMIM:103580" . _:115b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type IA"; "MONDO:Lexical", "OMIM:103580" . _:115b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type IA; PHP1A"; "OMIM:103580" . _:115bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79443" . a owl:Class; rdfs:subClassOf , ; "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant."; , ; "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant."@en; "orphanet"@en; "ICD-10:E13", "ICD10:E11", "ICD10:E13", "MONDO:0019017", "UMLS:CN205478"; "short fifth metacarpals-insulin resistance syndrome"; "Orphanet:66518"; ; rdfs:label "Short fifth metacarpals - insulin resistance", "Short fifth metacarpals-insulin resistance syndrome"@en; "ORPHA:66518" . _:115bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant."; "Orphanet:66518" . _:115bed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27039; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27039 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13"; "Attributed"@en . _:115bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E13"; "NTBT (narrower term maps to a broader term)"@en . _:115c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E13"; "ORDO:66518/attributed", "ORDO:66518/ntbt", "Orphanet:66518" . _:115c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205478"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:115c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short fifth metacarpals-insulin resistance syndrome"; rdfs:comment "preferred label from MONDO" . _:115c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:66518" . a owl:Class; rdfs:subClassOf , , ; "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity."; , , , , , , , , , , , , , ; , , , , , , ; "Brittle bone disease"@en, "Glass bone disease"@en, "Lobstein disease"@en, "OI"@en, "Osteopsathyrosis"@en, "Porak and Durante disease"@en; "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity."@en; "orphanet", "orphanet"@en; "COHD:78257", "DOID:12347", "GARD:0001017", "ICD-10:Q78.0", "ICD10:Q78.0", "ICD9:756.51", "MESH:D010013", "MONDO:0019019", "MSH:D010013", "MeSH:D010013", "MedDRA:10031243", "NCIT:C26837", "OMIM:166200", "OMIM:166210", "OMIM:166220", "OMIM:166230", "OMIM:259420", "OMIM:259440", "OMIM:610682", "OMIM:610915", "OMIM:610967", "OMIM:610968", "OMIM:613848", "OMIM:613849", "OMIM:613982", "OMIM:614856", "OMIM:615066", "OMIM:615220", "OMIM:616229", "OMIM:616507", "OMIM:617952", "OMIMPS:166200", "SCTID:78314001", "UMLS:C0023931", "UMLS:C0029434", "UMLS:C0268360", "UMLS:C1859069"; "Brittle bone disease", "Glass bone disease", "Lobstein disease", "Lobstein's syndrome", "OI", "Osteopsathyrosis", "Porak and Durante disease", "Vrolik's disease", "brittle bone disease", "glass bone disease", "osteogenesis imperfecta"; "Fragilitas ossium", "Vrolik disease"; "Orphanet:666"; , ; rdfs:label "Osteogenesis imperfecta", "Osteogenesis imperfecta"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta"^^xsd:anyURI; "ORPHA:666" . _:115c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity."; "Orphanet:666" . _:115c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:78257"; "MONDO:equivalentTo" . _:115c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12347"; "MONDO:equivalentTo" . _:115c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001017"; "MONDO:equivalentTo" . _:115c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:115c9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27051; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27051 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.0"; "Specific code (The term has its own code in the ICD10)"@en . _:115cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.0"; "DOID:12347", "MONDO:equivalentTo", "ORDO:666/e", "ORDO:666/specific", "Orphanet:666" . _:115cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.51"; "DOID:12347", "MONDO:equivalentTo", "i2s" . _:115ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010013"; "DOID:12347", "MONDO:equivalentTo", "ORDO:666/e", "Orphanet:666" . _:115cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D010013"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:115ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10031243"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:115cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10031243"; "ORDO:666/e", "Orphanet:666" . _:115d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26837"; "DOID:12347", "MONDO:equivalentTo" . _:115d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:166200"; "BTNT (broader term maps to a narrower term)"@en . _:115d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:166210"; "BTNT (broader term maps to a narrower term)"@en . _:115d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:166220"; "BTNT (broader term maps to a narrower term)"@en . _:115d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:166230"; "BTNT (broader term maps to a narrower term)"@en . _:115d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:259420"; "BTNT (broader term maps to a narrower term)"@en . _:115d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:259440"; "BTNT (broader term maps to a narrower term)"@en . _:115d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610682"; "BTNT (broader term maps to a narrower term)"@en . _:115d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610915"; "BTNT (broader term maps to a narrower term)"@en . _:115d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610967"; "BTNT (broader term maps to a narrower term)"@en . _:115dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610968"; "BTNT (broader term maps to a narrower term)"@en . _:115dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613848"; "BTNT (broader term maps to a narrower term)"@en . _:115dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613849"; "BTNT (broader term maps to a narrower term)"@en . _:115ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613982"; "BTNT (broader term maps to a narrower term)"@en . _:115ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614856"; "BTNT (broader term maps to a narrower term)"@en . _:115dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615066"; "BTNT (broader term maps to a narrower term)"@en . _:115e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615220"; "BTNT (broader term maps to a narrower term)"@en . _:115e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616229"; "BTNT (broader term maps to a narrower term)"@en . _:115e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616229"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:115e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616507"; "BTNT (broader term maps to a narrower term)"@en . _:115e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616507"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:115e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:166200"; "DOID:12347", "MONDO:equivalentTo" . _:115e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:78314001"; "DOID:12347", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.17" . _:115e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023931"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:115e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029434"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:115e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029434"; "DOID:12347", "MONDO:equivalentTo", "NCIT:C26837", "ORDO:666/e", "Orphanet:666" . _:115ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268360"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:115ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1859069"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:115ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lobstein disease"; "Orphanet:666" . _:115edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lobstein's syndrome"; "DOID:12347" . _:115eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OI"; "Orphanet:666" . _:115efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Osteopsathyrosis"; "DOID:12347", "MTHICD9_2006:756.51", "Orphanet:666" . _:115f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Porak and Durante disease"; "Orphanet:666" . _:115f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vrolik's disease"; "DOID:12347" . _:115f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brittle bone disease"; "CSP2005:1849-7175", "DOID:12347", "Orphanet:666" . _:115f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glass bone disease"; "Orphanet:666" . _:115f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteogenesis imperfecta"; rdfs:comment "preferred label from MONDO" . _:115f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fragilitas ossium"; "DOID:12347" . _:115f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vrolik disease"; "GARD:0001017" . _:115f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0001017" . _:115f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:666" . _:115f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta"^^xsd:anyURI; "GARD:0001017" . a owl:Class; rdfs:subClassOf , , ; "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration."; , , , ; "ICD10:Q78.2", "MONDO:0019026", "NCIT:C129733", "OMIM:259700", "OMIM:259710", "OMIM:611490", "OMIM:615085", "OMIMPS:259700", "SCTID:367489004", "UMLS:C1318518"; "Infantile malignant osteopetrosis", "OPTB", "autosomal recessive malignant osteopetrosis", "autosomal recessive osteopetrosis", "autosomal recessive osteopetrosis (disease)", "infantile malignant osteopetrosis", "osteopetrosis (disease), autosomal recessive"; "malignant osteopetrosis"; "Orphanet:667"; ; rdfs:label "Autosomal recessive malignant osteopetrosis" . _:115fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration."; "NCIT:C129733" . _:115fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.2"; "ORDO:667/attributed", "ORDO:667/ntbt", "Orphanet:667" . _:115fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129733"; "MONDO:equivalentTo" . _:115fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:259700"; "MONDO:equivalentTo" . _:115fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:367489004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:115ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive malignant osteopetrosis"; "Orphanet:667" . _:11600d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive osteopetrosis"; "NCIT:C129733" . _:11601d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive osteopetrosis"; rdfs:comment "preferred label from MONDO" . _:11602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile malignant osteopetrosis"; "Orphanet:667" . _:11603d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "osteopetrosis (disease), autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:11604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant osteopetrosis"; "NCIT:C129733" . _:11605d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:667" . a owl:Class; rdfs:subClassOf ; "Osteogenic sarcoma"@en; "Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells."@en; "orphanet"@en; "ICD-10:C41.9", "MeSH:D012516", "MedDRA:10031291", "OMIM:259500", "UMLS:C0029463"; rdfs:label "Osteosarcoma"@en; "ORPHA:668" . _:11606d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C41.9"; "NTBT (narrower term maps to a broader term)"@en . _:11607d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012516"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11608d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10031291"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11609d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:259500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1160ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0029463"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "use http://www.orpha.net/ORDO/Orphanet_98061 with label: Rare otorhinolaryngologic tumor"@en; rdfs:label "Squamous cell carcinoma of head and neck"@en . a owl:Class; rdfs:subClassOf ; "B-CLL"@en, "B-cell chronic lymphoid leukemia"@en, "Small lymphocytic lymphoma"@en; "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades."@en; "orphanet"@en; "ICD-10:C91.1", "MeSH:D015451", "MedDRA:10008958", "OMIM:109543", "OMIM:151400", "OMIM:609630", "OMIM:612557", "OMIM:612558", "OMIM:612559", "UMLS:C0023434", "UMLS:C0855095", "UMLS:C1868683"; rdfs:label "B-cell chronic lymphocytic leukemia"@en; "ORPHA:67038" . _:1160bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C91.1"; "NTBT (narrower term maps to a broader term)"@en . _:1160cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015451"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1160dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008958"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1160ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:109543"; "BTNT (broader term maps to a narrower term)"@en . _:1160fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:151400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11610d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609630"; "BTNT (broader term maps to a narrower term)"@en . _:11611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612557"; "BTNT (broader term maps to a narrower term)"@en . _:11612d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612558"; "BTNT (broader term maps to a narrower term)"@en . _:11613d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612559"; "BTNT (broader term maps to a narrower term)"@en . _:11614d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023434"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11615d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0855095"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11616d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1868683"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , ; "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations."; ; , , , , , , ; "Hypothalamic hamartoblastoma syndrome"@en; "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations."@en; "orphanet", "orphanet"@en; "DOID:9248", "GARD:0007305", "ICD-10:D33.0", "ICD10:D33.0", "ICD9:759.89", "MESH:D054975", "MONDO:0007804", "MSH:D054975", "MeSH:D054975", "NCIT:C84987", "OMIM:146510", "OMIM:615849", "SCTID:56677004", "UMLS:C0265220", "UMLS:C0342418"; "Hypothalamic hamartoblastoma syndrome", "PHS", "Pallister Hall syndrome", "Pallister-Hall syndrome", "Pallister-Hall syndrome; PHS", "Pallister-hall syndrome", "ano-cerebro-digital syndrome", "hypothalamic hamartoblastoma syndrome", "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly"; "Orphanet:672"; , ; rdfs:label "Pallister-Hall syndrome", "Pallister-Hall syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome"^^xsd:anyURI; "ORPHA:672" . _:11617d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations."; "Orphanet:672" . _:11618d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9248"; "MONDO:equivalentTo" . _:11619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007305"; "MONDO:equivalentTo" . _:1161ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27133; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27133 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D33.0"; "Attributed"@en . _:1161bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D33.0"; "NTBT (narrower term maps to a broader term)"@en . _:1161cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D33.0"; "ORDO:672/attributed", "ORDO:672/ntbt", "Orphanet:672" . _:1161dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:1161ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D054975"; "DOID:9248", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:672/e", "Orphanet:672" . _:1161fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054975"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11620d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84987"; "DOID:9248", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:11621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146510"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11622d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:146510"; "DOID:9248", "MONDO:equivalentTo", "ORDO:672/e", "Orphanet:672" . _:11623d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615849"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11624d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:56677004"; "DOID:9248", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11625d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265220"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11626d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265220"; "DOID:9248", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84987", "OMIM:146510", "ORDO:672/e", "Orphanet:672" . _:11627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342418"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHS"; "MONDO:Lexical", "OMIM:146510" . _:11629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pallister Hall syndrome"; "GARD:0007305" . _:1162ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pallister-Hall syndrome"; "MONDO:Lexical", "OMIM:146510" . _:1162bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pallister-Hall syndrome; PHS"; "OMIM:146510" . _:1162cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pallister-hall syndrome"; rdfs:comment "preferred label from MONDO" . _:1162dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ano-cerebro-digital syndrome"; "NCIT:C84987" . _:1162ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypothalamic hamartoblastoma syndrome"; "Orphanet:672" . _:1162fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly"; "OMIM:146510" . _:11630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007305" . _:11631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:672" . _:11632d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome"^^xsd:anyURI; "GARD:0007305" . a owl:Class; rdfs:subClassOf ; "Malaria is a preventable life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting."@en; "orphanet"@en; "ICD-10:B50.0", "ICD-10:B50.8", "ICD-10:B50.9", "ICD-10:B51.0", "ICD-10:B51.8", "ICD-10:B51.9", "ICD-10:B52.0", "ICD-10:B52.8", "ICD-10:B52.9", "ICD-10:B53.0", "ICD-10:B53.1", "ICD-10:B53.8", "ICD-10:B54", "MeSH:D008288", "MedDRA:10025487", "OMIM:611162", "UMLS:C0024530"; rdfs:label "Malaria"@en; "ORPHA:673" . _:11633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B50.0"; "BTNT (broader term maps to a narrower term)"@en . _:11634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B50.8"; "BTNT (broader term maps to a narrower term)"@en . _:11635d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B50.9"; "BTNT (broader term maps to a narrower term)"@en . _:11636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B51.0"; "BTNT (broader term maps to a narrower term)"@en . _:11637d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B51.8"; "BTNT (broader term maps to a narrower term)"@en . _:11638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B51.9"; "BTNT (broader term maps to a narrower term)"@en . _:11639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B52.0"; "BTNT (broader term maps to a narrower term)"@en . _:1163ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B52.8"; "BTNT (broader term maps to a narrower term)"@en . _:1163bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B52.9"; "BTNT (broader term maps to a narrower term)"@en . _:1163cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B53.0"; "BTNT (broader term maps to a narrower term)"@en . _:1163dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B53.1"; "BTNT (broader term maps to a narrower term)"@en . _:1163ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B53.8"; "BTNT (broader term maps to a narrower term)"@en . _:1163fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B54"; "BTNT (broader term maps to a narrower term)"@en . _:11640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008288"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11641d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10025487"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11642d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611162"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024530"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas."; , , , ; , , , , , ; "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas."@en; "orphanet", "orphanet"@en; "GARD:0006632", "ICD-10:K86.1", "ICD10:K86.1", "ICD9:577.8", "MESH:C537262", "MONDO:0008185", "NCIT:C95436", "OMIM:167800", "SCTID:68072000", "UMLS:C0238339", "UMLS:C0341474"; "hereditary chronic pancreatitis", "hereditary pancreatitis"; "HPC", "Hp", "PCTT", "autosomal dominant hereditary pancreatitis", "familial pancreatitis", "pancreatitis, calcific", "pancreatitis, calcific, included", "pancreatitis, chronic", "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "pancreatitis, chronic, protection against", "pancreatitis, chronic, protection against, included", "pancreatitis, chronic, susceptibility to", "pancreatitis, hereditary", "pancreatitis, hereditary; PCTT"; "Orphanet:676"; , , ; rdfs:label "Hereditary chronic pancreatitis", "Hereditary chronic pancreatitis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis"^^xsd:anyURI; "ORPHA:676" . _:11644d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas."; "Orphanet:676" . _:11645d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006632"; "MONDO:equivalentTo" . _:11646d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27178; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27178 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K86.1"; "Attributed"@en . _:11647d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K86.1"; "NTBT (narrower term maps to a broader term)"@en . _:11648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:K86.1"; "ORDO:676/attributed", "ORDO:676/ntbt", "Orphanet:676" . _:11649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:577.8"; "MONDO:relatedTo", "i2s" . _:1164ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537262"; "MONDO:equivalentTo" . _:1164bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C95436"; "MONDO:equivalentTo" . _:1164cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:167800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1164dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:167800"; "GARD:0006632", "MONDO:equivalentTo", "ORDO:676/e", "Orphanet:676" . _:1164ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:68072000"; "MONDO:equivalentTo" . _:1164fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0238339"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11650d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0341474"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary chronic pancreatitis"; "GARD:0006632", "MESH:C537262", "MONDO:patterns/hereditary" . _:11652d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary chronic pancreatitis"; rdfs:comment "preferred label from MONDO" . _:11653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary pancreatitis"; "NCIT:C95436" . _:11654d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPC"; "MESH:C537262", "OMIM:167800" . _:11655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hp"; "MESH:C537262", "OMIM:167800" . _:11656d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCTT"; "MESH:C537262", "MONDO:Lexical", "OMIM:167800" . _:11657d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hereditary pancreatitis"; "MESH:C537262" . _:11658d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial pancreatitis"; "MESH:C537262" . _:11659d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, calcific"; "OMIM:167800" . _:1165ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, calcific, included"; "MESH:C537262" . _:1165bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, chronic"; "OMIM:167800" . _:1165cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included"; "MESH:C537262" . _:1165dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, chronic, protection against"; "OMIM:167800" . _:1165ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, chronic, protection against, included"; "MESH:C537262" . _:1165fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, chronic, susceptibility to"; "OMIM:167800" . _:11660d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, hereditary"; "MESH:C537262", "MONDO:Lexical", "OMIM:167800" . _:11661d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatitis, hereditary; PCTT"; "OMIM:167800" . _:11662d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:676" . _:11663d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis"^^xsd:anyURI; "GARD:0006632" . a owl:Class; rdfs:subClassOf ; "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests."@en; "orphanet"@en; "ICD-10:C25.1", "MeSH:C537162", "UMLS:C0334489"; rdfs:label "Pancreatoblastoma"@en; "ORPHA:677" . _:11664d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C25.1"; "NTBT (narrower term maps to a broader term)"@en . _:11665d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537162"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11666d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0334489"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Papillon-LefC(vre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.", "Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis."; , , , , , , ; "Keratosis palmoplantar-periodontopathy syndrome"@en, "PLS"@en; "Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis."@en; "orphanet", "orphanet"@en; "DOID:3389", "GARD:0003100", "ICD-10:Q82.8", "ICD10:Q82.8", "ICD9:759.89", "MESH:D010214", "MONDO:0009490", "MSH:D010214", "MeSH:D010214", "NCIT:C84992", "OMIM:245000", "SCTID:40158001", "UMLS:C0030360"; "Keratosis palmoplantar - periodontopathy", "PLS", "Papillon Lefevre syndrome", "Papillon-Lefevre Disease", "Papillon-Lefevre disease", "Papillon-Lefvre syndrome", "Papillon-Lefvre syndrome (disorder)", "keratosis palmoplantar-periodontopathy syndrome"; "Keratoris palmoplantaris with periodontopathia", "PALS", "PAPILLON-Lefevre syndrome", "PAPILLON-Lefevre syndrome; PALS", "Papillon-LEFèvre syndrome", "Pls", "hyperkeratosis palmoplantaris with periodontosis", "keratosis palmoplantar - periodontopathy", "keratosis palmoplantaris with periodontopathia", "palmar-plantar hyperkeratosis and concomitant periodontal destruction", "palmoplantar keratoderma with periodontosis"; "Orphanet:678"; ; rdfs:label "Papillon-Lefèvre syndrome", "Papillon-Lefèvre syndrome"@en; "ORPHA:678" . _:11667d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-LefC(vre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis."; "Orphanet:678" . _:11668d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3389"; "MONDO:equivalentTo" . _:11669d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003100"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:1166ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27215; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27215 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "Attributed"@en . _:1166bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:1166cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "ORDO:678/attributed", "ORDO:678/ntbt", "Orphanet:678" . _:1166dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:1166ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010214"; "DOID:3389", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:678/e", "Orphanet:678" . _:1166fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D010214"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11670d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84992"; "DOID:3389", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/25.89" . _:11671d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:245000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:245000"; "DOID:3389", "MONDO:equivalentTo", "ORDO:678/e", "Orphanet:678" . _:11673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:40158001"; "DOID:3389", "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.65" . _:11674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030360"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11675d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0030360"; "DOID:3389", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84992", "OMIM:245000", "ORDO:678/e", "Orphanet:678" . _:11676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PLS"; "Orphanet:678" . _:11677d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon Lefevre syndrome"; "CSP2005:0828-4592", "CSP2005:2716-7025", "DOID:3389" . _:11678d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-Lefevre disease"; rdfs:comment "preferred label from MONDO" . _:11679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-Lefvre syndrome"; "DOID:3389" . _:1167ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratosis palmoplantar-periodontopathy syndrome"; "Orphanet:678" . _:1167bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Keratoris palmoplantaris with periodontopathia"; "GARD:0003100" . _:1167cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PALS"; "MONDO:Lexical", "OMIM:245000" . _:1167dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAPILLON-Lefevre syndrome"; "MONDO:Lexical", "OMIM:245000" . _:1167ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAPILLON-Lefevre syndrome; PALS"; "OMIM:245000" . _:1167fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Papillon-LEFèvre syndrome"; "Orphanet:678" . _:11680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pls"; "OMIM:245000" . _:11681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperkeratosis palmoplantaris with periodontosis"; "GARD:0003100" . _:11682d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratosis palmoplantar - periodontopathy"; "GARD:0003100" . _:11683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "keratosis palmoplantaris with periodontopathia"; "OMIM:245000" . _:11684d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palmar-plantar hyperkeratosis and concomitant periodontal destruction"; "GARD:0003100" . _:11685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palmoplantar keratoderma with periodontosis"; "GARD:0003100" . _:11686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:678" . a owl:Class; rdfs:subClassOf , , , , , ; "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal."; , , , , , , ; "Degos disease"@en, "Köhlmeier-Degos disease"@en, "Köhlmeier-Degos-Delort-Tricort syndrome"@en, "Papulosis atrophican maligna"@en; "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal."@en; "orphanet", "orphanet"@en; "GARD:0006249", "ICD-10:I77.8", "ICD10:I77.8", "ICD9:447.8", "MESH:D054853", "MONDO:0011208", "MSH:D054853", "MeSH:D054853", "MedDRA:10064281", "NCIT:C84835", "OMIM:602248", "SCTID:400171002", "UMLS:C0221011"; "Degos disease", "Kohlmeier-Degos disease", "Kohlmeier-Degos-Delort-Tricort syndrome", "Köhlmeier-Degos disease", "Köhlmeier-Degos-Delort-Tricort syndrome", "Papulosis atrophican maligna", "malignant atrophic papulosis", "papulosis atrophican maligna"; "Degos syndrome", "Degos's malignant atrophic papulosis", "atrophic papulosis, malignant", "papulosis, malignant atrophic"; "Orphanet:679"; ; rdfs:label "Malignant atrophic papulosis", "Malignant atrophic papulosis"@en; "ORPHA:679" . _:11687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal."; "Orphanet:679" . _:11688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006249"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11689d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27247; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27247 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I77.8"; "Index term"@en . _:1168ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I77.8"; "NTBT (narrower term maps to a broader term)"@en . _:1168bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I77.8"; "ORDO:679/index", "ORDO:679/ntbt", "Orphanet:679" . _:1168cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:447.8"; "MONDO:relatedTo", "i2s" . _:1168dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D054853"; "MONDO:equivalentTo", "ORDO:679/e", "Orphanet:679" . _:1168ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054853"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1168fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064281"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11690d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064281"; "ORDO:679/e", "Orphanet:679" . _:11691d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84835"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:11692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602248"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602248"; "MONDO:equivalentTo", "ORDO:679/e", "Orphanet:679" . _:11694d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:400171002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221011"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221011"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84835", "OMIM:602248", "ORDO:679/e", "Orphanet:679" . _:11697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Degos disease"; "OMIM:602248", "Orphanet:679" . _:11698d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kohlmeier-Degos disease"; "GARD:0006249", "Orphanet:679" . _:11699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kohlmeier-Degos-Delort-Tricort syndrome"; "Orphanet:679" . _:1169ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Köhlmeier-Degos disease"; "Orphanet:679" . _:1169bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Köhlmeier-Degos-Delort-Tricort syndrome"; "Orphanet:679" . _:1169cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant atrophic papulosis"; "OMIM:602248" . _:1169dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant atrophic papulosis"; rdfs:comment "preferred label from MONDO" . _:1169ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "papulosis atrophican maligna"; "Orphanet:679" . _:1169fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Degos syndrome"; "GARD:0006249" . _:116a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Degos's malignant atrophic papulosis"; "GARD:0006249" . _:116a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atrophic papulosis, malignant"; "GARD:0006249" . _:116a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "papulosis, malignant atrophic"; "OMIM:602248" . _:116a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:679" . a owl:Class; rdfs:subClassOf ; "Rare maxillofacial anomaly"@en; rdfs:label "Rare maxillo-facial surgical disease"@en; "ORPHA:68329" . a owl:Class; rdfs:subClassOf , , , ; , ; ; "Rare bleeding disorder due to a constitutional coagulation factors defect"@en, "Rare coagulopathy due to a constitutional coagulation factors defect"@en; "MONDO:0019039", "UMLS:CN227563"; "Rare bleeding disorder due to a constitutional coagulation factors defect", "Rare coagulopathy due to a constitutional coagulation factors defect", "rare bleeding disorder due to a constitutional coagulation factors defect", "rare coagulopathy due to a constitutional coagulation factors defect", "rare hemorrhagic disorder due to a constitutional coagulation factors defect"; "Orphanet:68334"; , ; rdfs:label "Rare hemorrhagic disorder due to a constitutional coagulation factors defect", "Rare hemorrhagic disorder due to a constitutional coagulation factors defect"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:68334" . _:116a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68334" . _:116a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227563"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:116a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a constitutional coagulation factors defect"; "Orphanet:68334" . _:116a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a constitutional coagulation factors defect"; "Orphanet:68334" . _:116a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hemorrhagic disorder due to a constitutional coagulation factors defect"; rdfs:comment "preferred label from MONDO" . _:116a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68334" . a owl:Class; rdfs:subClassOf , , , ; "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"; ; , , , , , , ; "DOID:0080014", "ICD9:758.89", "MESH:D025063", "MONDO:0019040", "MSH:D002869", "MeSH:D002869", "NCIT:C34470", "SCTID:409709004", "UMLS:C0008625", "UMLS:C0008626"; "chromosomal anomaly", "chromosomal disease"; "autosomal chromosome disorder", "autosomal chromosome disorders", "chromosomal disorder", "chromosomal disorders", "chromosome Abnormality disorder", "chromosome Abnormality disorders", "chromosome disorder", "chromosome disorder, autosomal", "chromosome disorders, autosomal", "disorder, chromosomal", "disorder, chromosome", "disorder, chromosome Abnormality", "disorders, chromosomal", "disorders, chromosome"; "Orphanet:68335"; ; rdfs:label "Chromosomal anomaly", "Rare chromosomal anomaly"@en; "ORPHA:68335" . _:116aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"; "MESH:D025063" . _:116abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080014"; "MONDO:equivalentTo" . _:116acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.89"; "MONDO:relatedTo", "i2s" . _:116add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D025063"; "MONDO:equivalentTo" . _:116aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D002869"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:116afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34470"; "MONDO:equivalentTo" . _:116b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:409709004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.81/11.58" . _:116b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008625"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:116b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0008626"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:116b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosomal anomaly"; rdfs:comment "preferred label from MONDO" . _:116b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosomal disease"; "MONDO:0000838" . _:116b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal chromosome disorder"; "MESH:D025063" . _:116b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal chromosome disorders"; "MESH:D025063" . _:116b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosomal disorder"; "MESH:D025063" . _:116b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosomal disorders"; "MESH:D025063" . _:116b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome Abnormality disorder"; "MESH:D025063" . _:116bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome Abnormality disorders"; "MESH:D025063" . _:116bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome disorder"; "MESH:D025063" . _:116bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome disorder, autosomal"; "MESH:D025063" . _:116bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome disorders, autosomal"; "MESH:D025063" . _:116bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, chromosomal"; "MESH:D025063" . _:116bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, chromosome"; "MESH:D025063" . _:116c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder, chromosome Abnormality"; "MESH:D025063" . _:116c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, chromosomal"; "MESH:D025063" . _:116c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders, chromosome"; "MESH:D025063" . _:116c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68335" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic tumor", "Rare genetic tumor"@en; "ORPHA:68336" . a owl:Class; rdfs:subClassOf ; rdfs:label "Multiple congenital anomalies/dysmorphic syndrome"@en; "ORPHA:68341" . a owl:Class; rdfs:subClassOf , ; "Rare genodermatosis"@en; "UMLS:C0037277"; "Rare genodermatosis"; rdfs:label "Rare genetic skin disease", "Rare genetic skin disease"@en; "ORPHA:68346" . _:116c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037277"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; rdfs:label "Tumor of hematopoietic and lymphoid tissues"@en; "ORPHA:68347" . a owl:Class; rdfs:subClassOf ; "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."; , ; , , , , , , , , ; "COHD:374912", "DOID:0050987", "DOID:0060786", "DOID:10579", "GARD:0006895", "ICD10:E75.2", "ICD9:330.0", "MONDO:0019046", "MedDRA:10024381", "NCIT:C61253", "OMIMPS:312080", "SCTID:192781003", "UMLS:C0023520", "UMLS:CN228461"; "HLD", "hypomyelinating leukodystrophy", "leukodystrophy"; "hypomyelinating leukoencephalopathy", "leukodystrophy, hypomyelinating"; "Orphanet:68356"; , , ; rdfs:comment "Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy'"; rdfs:label "Leukodystrophy"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy"^^xsd:anyURI . _:116c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."; "https://rarediseases.org/rare-diseases/leukodystrophy/" . _:116c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:374912"; "MONDO:equivalentTo" . _:116c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050987"; "MONDO:equivalentTo" . _:116c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060786"; "MONDO:equivalentTo" . _:116c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10579"; "MONDO:equivalentTo" . _:116cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006895"; "MONDO:equivalentTo" . _:116cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.2"; "ORDO:68356/index", "ORDO:68356/ntbt", "Orphanet:68356" . _:116ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:330.0"; "DOID:10579", "MONDO:equivalentTo", "i2s" . _:116cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10024381"; "ORDO:68356/e", "Orphanet:68356" . _:116ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61253"; "DOID:10579", "MONDO:equivalentTo" . _:116cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:312080"; "DOID:0060786", "MONDO:equivalentTo" . _:116d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:192781003"; "DOID:10579", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:116d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023520"; "DOID:10579", "MONDO:equivalentTo", "NCIT:C61253", "ORDO:68356/e", "Orphanet:68356" . _:116d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN228461"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:116d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLD"; "DOID:0060786" . _:116d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomyelinating leukodystrophy"; "MONDO:0000825" . _:116d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leukodystrophy"; rdfs:comment "preferred label from MONDO" . _:116d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypomyelinating leukoencephalopathy"; "MONDO:cjm" . _:116d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leukodystrophy, hypomyelinating"; "OMIMPS:312080" . _:116d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006895" . _:116d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68356" . _:116dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy"^^xsd:anyURI; "GARD:0006895" . a owl:Class; rdfs:subClassOf , ; "UMLS:C0581883", "UMLS:C3711374"; rdfs:label "Rare deafness"@en; "ORPHA:68361" . _:116dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0581883"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:116dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3711374"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "UMLS:C0042373"; rdfs:label "Rare vascular disease"@en; "ORPHA:68362" . _:116ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042373"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Rare dystonic disorder"@en; "UMLS:C0393593"; rdfs:label "Rare dystonia"@en; "ORPHA:68363" . _:116ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0393593"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; ; "ICD-10:D56.0", "ICD-10:D56.1", "ICD-10:D56.2", "ICD-10:D56.3", "ICD-10:D56.4", "ICD-10:D56.8", "ICD-10:D56.9", "ICD-10:D57.0", "ICD-10:D57.1", "ICD-10:D57.2", "ICD-10:D57.3", "ICD-10:D57.8", "ICD-10:D58.0", "ICD-10:D58.1", "ICD-10:D58.2", "ICD-10:D58.8", "ICD-10:D58.9", "ICD10:D56.0", "ICD10:D56.1", "ICD10:D56.2", "ICD10:D56.3", "ICD10:D56.4", "ICD10:D56.8", "ICD10:D56.9", "ICD10:D57.0", "ICD10:D57.1", "ICD10:D57.2", "ICD10:D57.3", "ICD10:D57.8", "ICD10:D58.0", "ICD10:D58.1", "ICD10:D58.2", "ICD10:D58.8", "ICD10:D58.9", "ICD9:282.7", "MSH:D006453", "MeSH:D006453", "MedDRA:10060892", "SCTID:80141007", "UMLS:C0019045"; "hemoglobinopathy"; "globin abnormality", "hemoglobin disease", "hemoglobin disorder"; "Orphanet:68364"; rdfs:label "Hemoglobinopathy", "Hemoglobinopathy"@en; "ORPHA:68364" . _:116dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.0"; "BTNT (broader term maps to a narrower term)"@en . _:116e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.1"; "BTNT (broader term maps to a narrower term)"@en . _:116e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.2"; "BTNT (broader term maps to a narrower term)"@en . _:116e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.3"; "BTNT (broader term maps to a narrower term)"@en . _:116e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.4"; "BTNT (broader term maps to a narrower term)"@en . _:116e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.8"; "BTNT (broader term maps to a narrower term)"@en . _:116e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.9"; "BTNT (broader term maps to a narrower term)"@en . _:116e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.0"; "BTNT (broader term maps to a narrower term)"@en . _:116e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.1"; "BTNT (broader term maps to a narrower term)"@en . _:116e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.2"; "BTNT (broader term maps to a narrower term)"@en . _:116e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.3"; "BTNT (broader term maps to a narrower term)"@en . _:116ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D57.8"; "BTNT (broader term maps to a narrower term)"@en . _:116ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D58.0"; "BTNT (broader term maps to a narrower term)"@en . _:116ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D58.1"; "BTNT (broader term maps to a narrower term)"@en . _:116edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D58.2"; "BTNT (broader term maps to a narrower term)"@en . _:116eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D58.8"; "BTNT (broader term maps to a narrower term)"@en . _:116efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D58.9"; "BTNT (broader term maps to a narrower term)"@en . _:116f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.7"; "linkedlifedata" . _:116f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006453"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:116f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060892"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:116f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:80141007"; "MONDO:equivalentTo" . _:116f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019045"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:116f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemoglobinopathy"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins."; , , , , , , ; "DOID:3211", "MESH:D016464", "MONDO:0002561", "NCIT:C61250", "SCTID:23585005", "UMLS:C0085078", "UMLS:CN205533"; "disorder of lysosomal enzyme", "disorder of lysosomal enzymes", "inborn lysosomal enzyme disorder", "lysosomal disease", "lysosomal disorder", "lysosomal storage disease", "lysosomal storage disorder", "lysosomal storage metabolism disorder", "lysosome disease", "lysosome disorder"; "phospholipidosis"; "Orphanet:68366"; ; rdfs:label "Lysosomal disease", "Lysosomal disease"@en; "ORPHA:68366" . _:116f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins."; "PMID:21723623" . _:116f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3211"; "MONDO:equivalentTo" . _:116f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016464"; "DOID:3211", "MONDO:equivalentTo", "MONDO:ontobio" . _:116f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61250"; "DOID:3211", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:116fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:23585005"; "DOID:3211", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:116fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085078"; "DOID:3211", "MONDO:equivalentTo", "NCIT:C61250" . _:116fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205533"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:116fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lysosomal enzyme"; "DOID:3211" . _:116fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lysosomal enzymes"; "NCIT:C61250" . _:116ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn lysosomal enzyme disorder"; "CSP2005:1849-5878", "DOID:3211" . _:11700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal disease"; "MONDO:0019051" . _:11701d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal storage disease"; rdfs:comment "preferred label from MONDO" . _:11702d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal storage disorder"; "NCIT:C61250" . _:11703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal storage metabolism disorder"; "DOID:3211" . _:11704d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phospholipidosis"; "NCIT:C61250" . _:11705d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68366" . a owl:Class; rdfs:subClassOf , , ; "A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. The inborn errors of metabolism are typically rare, but this class also encompasses non-rare diseases like hereditary hemochromatosis type 1"; ; , , , , , , , ; "Rare metabolic disease"@en; "DOID:655", "MESH:D008661", "MONDO:0019052", "MSH:D008659", "MSH:D008661", "MeSH:D008659", "MeSH:D008661", "MedDRA:10058097", "MedDRA:10062018", "NCIT:C34816", "SCTID:86095007", "UMLS:C0025517", "UMLS:C0025521"; "Metabolic disease", "congenital metabolic disorder", "congenital metabolism disorder", "hereditary metabolic disease", "inborn error of metabolism", "inborn errors of metabolism", "inborn metabolism disorder", "inherited metabolic disorder", "metabolic hereditary disorder"; "rare inborn errors of metabolism", "rare inherited metabolic disorder"; "rare metabolic disease"; "Orphanet:68367"; ; rdfs:label "Inborn errors of metabolism", "Rare inborn errors of metabolism"@en; "ORPHA:68367" . _:11706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. The inborn errors of metabolism are typically rare, but this class also encompasses non-rare diseases like hereditary hemochromatosis type 1"; "MONDO:cjm", "NCIT:C34816" . _:11707d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:655"; "MONDO:equivalentTo" . _:11708d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008661"; "DOID:655", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:68367/e", "Orphanet:68367" . _:11709d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008659"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1170ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008661"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1170bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058097"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1170cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058097"; "ORDO:68367/e", "Orphanet:68367" . _:1170dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062018"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1170ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062018"; "ORDO:68367/e", "Orphanet:68367" . _:1170fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34816"; "DOID:655", "MONDO:equivalentTo" . _:11710d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:86095007"; "DOID:655", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.50" . _:11711d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025517"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025521"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11713d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0025521"; "DOID:655", "MONDO:equivalentTo", "NCIT:C34816", "ORDO:68367/e", "Orphanet:68367" . _:11714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital metabolic disorder"; "NCIT:C34816" . _:11715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital metabolism disorder"; "NCIT:C34816" . _:11716d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary metabolic disease"; "MONDO:patterns/hereditary" . _:11717d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of metabolism"; "NCIT:C34816" . _:11718d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn errors of metabolism"; "DOID:655", "NCIT:C34816" . _:11719d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn errors of metabolism"; rdfs:comment "preferred label from MONDO" . _:1171ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn metabolism disorder"; "CSP2005:1849-0057", "DOID:655" . _:1171bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited metabolic disorder"; "MONDO:0003919" . _:1171cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic hereditary disorder"; "DOID:655" . _:1171dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn errors of metabolism"; "Orphanet:68367" . _:1171ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare metabolic disease"; "Orphanet:68367" . _:1171fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68367" . a owl:Class; rdfs:subClassOf , , ; "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia."; , , , , , ; "COHD:441268", "DOID:906", "ICD10:E71.5", "ICD10:E71.50", "ICD9:277.86", "ICD9:277.89", "MONDO:0019053", "MSH:D018901", "NCIT:C85005", "SCTID:238059005", "UMLS:C0282528"; "disorder of peroxisomal function", "peroxisomal disease", "peroxisomal disorder", "peroxisomal function disorder"; "Orphanet:68373"; ; rdfs:label "Peroxisomal disease" . _:11720d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia."; "NCIT:C85005" . _:11721d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:441268"; "MONDO:equivalentTo" . _:11722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:906"; "MONDO:equivalentTo" . _:11723d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.5"; "DOID:906" . _:11724d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.50"; "DOID:906" . _:11725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.86"; "DOID:906", "MONDO:equivalentTo", "i2s" . _:11726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.89"; "MONDO:relatedTo", "i2s" . _:11727d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85005"; "DOID:906", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11728d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238059005"; "DOID:906", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11729d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0282528"; "DOID:906", "MONDO:equivalentTo", "NCIT:C85005", "ORDO:68373/e", "Orphanet:68373" . _:1172ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of peroxisomal function"; "NCIT:C85005" . _:1172bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisomal disease"; rdfs:comment "preferred label from MONDO" . _:1172cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisomal disorder"; "DOID:906", "ICD9CM_2006:277.86", "NCIT:C85005" . _:1172dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisomal function disorder"; "NCIT:C85005" . _:1172ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68373" . a owl:Class; rdfs:subClassOf ; "UMLS:C0206762"; rdfs:label "Congenital limb malformation"@en; "ORPHA:68378" . _:1172fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206762"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "MSH:D028361", "MeSH:D028361", "UMLS:C0751651"; "mitochondrial disease"; "Orphanet:68380"; rdfs:label "Mitochondrial disease", "Mitochondrial disease"@en; "ORPHA:68380" . _:11730d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D028361"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11731d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751651"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11732d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial disease"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf ; "MeSH:D009468", "MedDRA:10029323", "UMLS:C0027868"; rdfs:label "Neuromuscular disease"@en; "ORPHA:68381" . _:11733d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009468"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029323"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027868"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD10:D61.0"; rdfs:label "Rare constitutional medullar aplasia" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0019058", "UMLS:CN205539"; "neurometabolic disease"; "Orphanet:68385"; ; rdfs:label "Neurometabolic disease", "Neurometabolic disease"@en; "ORPHA:68385" . _:11736d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205539"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurometabolic disease"; rdfs:comment "preferred label from MONDO" . _:11738d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:68385" . a owl:Class; rdfs:subClassOf ; "Rare hypokinetic movement disorder"@en; "UMLS:C0242422"; rdfs:label "Rare parkinsonian disorder"@en; "ORPHA:68402" . _:11739d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242422"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "UMLS:C0005967"; rdfs:label "Rare bone tumor"@en; "ORPHA:68411" . _:1173ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005967"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare parathyroid disease and phosphocalcic metabolism anomaly"@en; "ORPHA:68415" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare infectious disease"@en; "ORPHA:68416" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Vascular anomaly or angioma"@en; "ORPHA:68419" . a owl:Class; rdfs:subClassOf , ; "Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis."; , ; "ICD10:Q73.8", "MONDO:0019066", "UMLS:CN205546"; "syndrome with brachydactyly"; "dysostosis with brachydactyly"; "Orphanet:69028"; ; rdfs:label "Syndrome with brachydactyly" . _:1173bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis."; "Orphanet:69028" . _:1173cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q73.8"; "ORDO:69028/attributed", "ORDO:69028/ntbt", "Orphanet:69028" . _:1173dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205546"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:1173ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with brachydactyly"; rdfs:comment "preferred label from MONDO" . _:1173fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysostosis with brachydactyly"; "Orphanet:69028" . _:11740d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:69028" . a owl:Class; rdfs:subClassOf ; "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits."@en; "orphanet"@en; "ICD-10:N04.0", "OMIM:615861"; rdfs:label "Idiopathic steroid-sensitive nephrotic syndrome"@en; "ORPHA:69061" . _:11741d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27432; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.0"; "Attributed"@en . _:11742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.0"; "NTBT (narrower term maps to a broader term)"@en . _:11743d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615861"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Alloimmune neonatal renal disease"@en, "FMAIG"@en, "Fetomaternal alloimmunization with antenatal glomerulopathies"@en, "Neonatal glomerulopathy due to Neprilysin alloimmunization"@en, "Neonatal glomerulopathy due to neprilysin alloimmunization"@en, "Neonatal membranous glomerulopathy with maternal NEP deficiency"@en, "Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency"@en; "Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life."@en; "orphanet"@en; "ICD-10:P96.0"; rdfs:label "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"@en; "ORPHA:69063" . _:11744d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:P96.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , , ; "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)."; , , , , , ; , , , , , , ; "SGLT2 deficiency"@en; "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)."@en; "orphanet"@en; "COHD:193170", "DOID:9432", "EFO:1001151", "GARD:0007548", "ICD-10:E74.8", "ICD10:E74.8", "ICD9:271.4", "MESH:D006030", "MONDO:0009297", "MedDRA:10038457", "OMIM:233100", "SCTID:267430007", "UMLS:C0017980", "UMLS:C3245525"; "Familial renal glucosuria", "SGLT2 deficiency", "familial renal glucosuria", "renal diabetes"; "GLYS", "Glys1", "glycosuria, renal", "renal glucosuria", "renal glucosuria; GLYS", "renal glycosuria"; "Orphanet:69076"; , ; rdfs:label "Familial renal glucosuria"@en, "Renal glucosuria"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria"^^xsd:anyURI; "ORPHA:69076" . _:11745d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)."; "Orphanet:69076" . _:11746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:193170"; "MONDO:equivalentTo" . _:11747d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9432"; "EFO:1001151", "MONDO:equivalentTo" . _:11748d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1001151"; "MONDO:equivalentTo" . _:11749d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007548"; "MONDO:equivalentTo" . _:1174ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27442; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1174bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.8"; "NTBT (narrower term maps to a broader term)"@en . _:1174cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.8"; "DOID:9432", "ORDO:69076/inclusion", "ORDO:69076/ntbt", "Orphanet:69076" . _:1174dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.4"; "DOID:9432", "EFO:1001151", "MONDO:equivalentTo", "i2s" . _:1174ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006030"; "DOID:9432", "EFO:1001151", "MONDO:equivalentTo", "MONDO:ontobio" . _:1174fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038457"; "EFO:1001151" . _:11750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11751d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:233100"; "DOID:9432", "MONDO:equivalentTo", "ORDO:69076/e", "Orphanet:69076" . _:11752d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:267430007"; "DOID:9432", "EFO:1001151", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017980"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11754d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017980"; "DOID:9432", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:233100", "Orphanet:69076" . _:11755d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3245525"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11756d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3245525"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "Orphanet:69076" . _:11757d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGLT2 deficiency"; "Orphanet:69076" . _:11758d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial renal glucosuria"; "Orphanet:69076" . _:11759d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial renal glucosuria"; rdfs:comment "preferred label from MONDO" . _:1175ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal diabetes"; "DOID:9432", "MTHICD9_2006:271.4" . _:1175bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLYS"; "MONDO:Lexical", "OMIM:233100" . _:1175cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glys1"; "OMIM:233100" . _:1175dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycosuria, renal"; "OMIM:233100" . _:1175ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal glucosuria"; "GARD:0007548", "MONDO:Lexical", "OMIM:233100" . _:1175fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal glucosuria; GLYS"; "OMIM:233100" . _:11760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal glycosuria"; "DOID:9432", "GARD:0007548" . _:11761d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007548" . _:11762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:69076" . _:11763d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria"^^xsd:anyURI; "GARD:0007548" . a owl:Class; rdfs:subClassOf ; "Malignant rhabdoid tumor"@en; "Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term)."@en; "orphanet"@en; "ICD-10:C49.9", "MeSH:D018335", "OMIM:609322", "OMIM:613325", "UMLS:C0206743"; rdfs:label "Rhabdoid tumor"@en; "ORPHA:69077" . _:11764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C49.9"; "NTBT (narrower term maps to a broader term)"@en . _:11765d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018335"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609322"; "BTNT (broader term maps to a narrower term)"@en . _:11767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613325"; "BTNT (broader term maps to a narrower term)"@en . _:11768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206743"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , ; "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia."; ; , , , ; "OL-EDA-ID"@en; "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia."@en; "orphanet"@en; "ICD-10:Q78.2", "ICD10:Q78.2", "MESH:C564538", "MONDO:0010295", "OMIM:300301", "SCTID:720986005", "UMLS:C1845919"; "OL-EDA-ID", "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome", "ol-EDA-ID"; "OLEDAID", "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema", "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; OLEDAID"; "Orphanet:69088"; ; rdfs:label "Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema", "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"@en; "ORPHA:69088" . _:11769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia."; "Orphanet:69088" . _:1176ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27475; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27475 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.2"; "Attributed"@en . _:1176bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q78.2"; "NTBT (narrower term maps to a broader term)"@en . _:1176cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.2"; "ORDO:69088/attributed", "ORDO:69088/ntbt", "Orphanet:69088" . _:1176dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564538"; "MONDO:equivalentTo" . _:1176ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300301"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1176fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300301"; "MONDO:equivalentTo", "ORDO:69088/e", "Orphanet:69088" . _:11770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:720986005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.72" . _:11771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1845919"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"; rdfs:comment "preferred label from MONDO" . _:11773d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ol-EDA-ID"; "Orphanet:69088" . _:11774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OLEDAID"; "MONDO:Lexical", "OMIM:300301" . _:11775d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema"; "MONDO:Lexical", "OMIM:300301" . _:11776d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; OLEDAID"; "OMIM:300301" . _:11777d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:69088" . a owl:Class; rdfs:subClassOf , , , ; "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years."; ; , , , , ; "ABCB4-related cholelithiasis"@en, "LPAC"@en; "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years."@en; "orphanet"@en; "MONDO:0010939", "MedDRA:10068936", "OMIM:600803", "SCTID:715577009", "UMLS:C2609268"; "ABCB4 gene mutation-associated cholelithiasis", "Cholelithiasis with ABCB4 gene mutation", "LPAC", "cholelithiasis with ABCB4 gene mutation", "gallbladder disease type 1", "low phospholipid associated cholelithiasis"; "GBD1", "cholelithiasis, Low phospholipid-associated", "gallbladder disease 1", "gallbladder disease 1; GBD1"; "Orphanet:69663"; ; rdfs:label "Low phospholipid associated cholelithiasis", "Low phospholipid-associated cholelithiasis"@en; "ORPHA:69663" . _:11778d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years."; "Orphanet:69663" . _:11779d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068936"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1177ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068936"; "ORDO:69663/e", "Orphanet:69663" . _:1177bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600803"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1177cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600803"; "MONDO:equivalentTo", "ORDO:69663/e", "Orphanet:69663" . _:1177dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715577009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.20" . _:1177ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2609268"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1177fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2609268"; "MONDO:equivalentTo", "OMIM:600803", "ORDO:69663/e", "Orphanet:69663" . _:11780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCB4 gene mutation-associated cholelithiasis"; "Orphanet:69663" . _:11781d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LPAC"; "Orphanet:69663" . _:11782d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholelithiasis with ABCB4 gene mutation"; "Orphanet:69663" . _:11783d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gallbladder disease type 1"; "MONDORULE:1", "OMIM:600803" . _:11784d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "low phospholipid associated cholelithiasis"; rdfs:comment "preferred label from MONDO" . _:11785d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GBD1"; "MONDO:Lexical", "OMIM:600803" . _:11786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cholelithiasis, Low phospholipid-associated"; "OMIM:600803" . _:11787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gallbladder disease 1"; "MONDO:Lexical", "OMIM:600803" . _:11788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gallbladder disease 1; GBD1"; "OMIM:600803" . _:11789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:69663" . a owl:Class; rdfs:subClassOf , , , ; "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms."; ; ; "Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome"@en; "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms."@en; "orphanet", "orphanet"@en; "GARD:0012827", "MONDO:0007670", "OMIM:137940", "OMIM:607823"; "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)"; "hypotrichosis lymphedema telangiectasia syndrome"; "Orphanet:69735"; ; rdfs:label "Hypotrichosis - lymphedema - telangiectasia", "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"@en; "ORPHA:69735" . _:1178ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012827"; "MONDO:equivalentTo", "shared-xref" . _:1178bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137940"; "BTNT (broader term maps to a narrower term)"@en . _:1178cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607823"; "BTNT (broader term maps to a narrower term)"@en . _:1178dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)"; rdfs:comment "preferred label from MONDO" . _:1178ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypotrichosis lymphedema telangiectasia syndrome"; "GARD:0012827" . _:1178fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:69735" . a owl:Class; rdfs:subClassOf , , ; "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."; , , ; "SMA"@en; "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."@en; "orphanet", "orphanet"@en; "EFO:0008929", "GARD:0004531", "ICD-10:G12.0", "ICD-10:G12.1", "ICD10:G12.0", "ICD10:G12.1", "MONDO:0019079", "OMIM:253300", "OMIM:253400", "OMIM:253550", "OMIM:271150", "UMLS:C4024957", "UMLS:CN205570"; "SMA", "proximal spinal muscular atrophy"; "Orphanet:70"; , ; rdfs:label "Proximal spinal muscular atrophy", "Proximal spinal muscular atrophy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy"^^xsd:anyURI; "ORPHA:70" . _:11790d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."; "Orphanet:70" . _:11791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0008929"; "MONDO:equivalentTo" . _:11792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004531"; "MONDO:equivalentTo" . _:11793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G12.0"; "Attributed"@en . _:11794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G12.0"; "NTBT (narrower term maps to a broader term)"@en . _:11795d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27519; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27519 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G12.1"; "Attributed"@en . _:11796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G12.1"; "NTBT (narrower term maps to a broader term)"@en . _:11797d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G12.0"; "ORDO:70/attributed", "ORDO:70/ntbt", "Orphanet:70" . _:11798d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G12.1"; "ORDO:70/attributed", "ORDO:70/ntbt", "Orphanet:70" . _:11799d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253300"; "BTNT (broader term maps to a narrower term)"@en . _:1179ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253400"; "BTNT (broader term maps to a narrower term)"@en . _:1179bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253550"; "BTNT (broader term maps to a narrower term)"@en . _:1179cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:271150"; "BTNT (broader term maps to a narrower term)"@en . _:1179dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4024957"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:1179ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205570"; "MEDGEN:kboom-pr99-c99", "MONDO:equivalentTo" . _:1179fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMA"; "Orphanet:70" . _:117a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proximal spinal muscular atrophy"; rdfs:comment "preferred label from MONDO" . _:117a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004531" . _:117a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:70" . _:117a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy"^^xsd:anyURI; "GARD:0004531" . a owl:Class; rdfs:subClassOf , , , ; "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.", "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring."; , , , , , ; "BPD"@en; "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring."@en; "Orphanet", "orphanet"@en; "true"; "GARD:0005962", "ICD-10:P27.1", "ICD10:P27.1", "MESH:D001997", "MONDO:0019091", "MSH:D001997", "MeSH:D001997", "MedDRA:10006475", "NCIT:C90599", "SCTID:67569000", "UMLS:C0006287"; "BPD", "bronchopulmonary dysplasia"; "Orphanet:70589"; , ; rdfs:label "Bronchopulmonary dysplasia", "Bronchopulmonary dysplasia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia"^^xsd:anyURI; "ORPHA:70589" . _:117a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring."; "Orphanet:70589" . _:117a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005962"; "MONDO:equivalentTo" . _:117a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:P27.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:P27.1"; "ORDO:70589/e", "Orphanet:70589" . _:117a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D001997"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:70589/e", "Orphanet:70589" . _:117a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001997"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10006475"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10006475"; "ORDO:70589/e", "Orphanet:70589" . _:117acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C90599"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.79/0.77" . _:117add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:67569000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/6.27" . _:117aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006287"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006287"; "MONDO:equivalentTo", "NCIT:C90599", "ORDO:70589/e", "Orphanet:70589" . _:117b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BPD"; "Orphanet:70589" . _:117b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bronchopulmonary dysplasia"; rdfs:comment "preferred label from MONDO" . _:117b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005962" . _:117b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:70589" . _:117b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia"^^xsd:anyURI; "GARD:0005962" . a owl:Class; rdfs:subClassOf ; "CTEPH"@en; "Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure."@en; "orphanet"@en; "MedDRA:10068739", "OMIM:612862", "UMLS:C2363973"; rdfs:label "Chronic thromboembolic pulmonary hypertension"@en; "ORPHA:70591" . _:117b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068739"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612862"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2363973"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria."; , , , ; "IRAK4 deficiency"@en; "Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria."@en; "orphanet"@en; "GARD:0010311", "ICD-10:D84.8", "ICD10:D84.8", "MESH:C564352", "MONDO:0011888", "OMIM:607676", "UMLS:C1843256"; "IRAK4 deficiency", "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"; "IRAK-4 deficiency", "Interleukin receptor-associated kinase deficiency", "Irak4D"; "Orphanet:70592"; ; rdfs:label "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency", "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"@en; "ORPHA:70592" . _:117b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria."; "Orphanet:70592" . _:117b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010311"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:117bad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27557; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27557 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:117bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:117bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:70592/attributed", "ORDO:70592/ntbt", "Orphanet:70592" . _:117bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564352"; "MONDO:equivalentTo", "MONDO:ontobio" . _:117bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607676"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607676"; "MONDO:equivalentTo", "ORDO:70592/e", "Orphanet:70592" . _:117c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1843256"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1843256"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:607676", "Orphanet:70592" . _:117c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRAK4 deficiency"; "OMIM:607676", "Orphanet:70592" . _:117c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"; rdfs:comment "preferred label from MONDO" . _:117c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRAK-4 deficiency"; "GARD:0010311" . _:117c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Interleukin receptor-associated kinase deficiency"; "GARD:0010311" . _:117c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Irak4D"; "OMIM:607676" . _:117c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:70592" . a owl:Class; rdfs:subClassOf , , , , ; "Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development."; , , , , , ; "Autosomal recessive sepiapterin reductase-deficient DRD"@en, "DRD due to SRD"@en, "SPR deficiency"@en, "Sepiapterin reductase deficiency"@en; "Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development."@en; "orphanet", "orphanet"@en; "DOID:0111168", "GARD:0010365", "ICD-10:G24.1", "ICD10:G24.1", "ICD9:277.89", "MESH:C562657", "MONDO:0012994", "OMIM:612716", "SCTID:45116002", "UMLS:C0268468"; "Autosomal recessive sepiapterin reductase-deficient DRD", "DRD due to SRD", "DYT-SPR", "SPR deficiency", "SRD", "Sepiapterin reductase deficiency", "autosomal recessive sepiapterin reductase-deficient DRD", "dopa-responsive dystonia due to sepiapterin reductase deficiency", "sepiapterin reductase deficiency"; "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency"; "Orphanet:70594"; ; rdfs:label "Dopa-responsive dystonia due to sepiapterin reductase deficiency", "Dopa-responsive dystonia due to sepiapterin reductase deficiency"@en; "ORPHA:70594" . _:117c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development."; "Orphanet:70594" . _:117c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0111168"; "MONDO:equivalentTo" . _:117cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010365"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:117cbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27575; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27575 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "Attributed"@en . _:117ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "NTBT (narrower term maps to a broader term)"@en . _:117cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.1"; "ORDO:70594/attributed", "ORDO:70594/ntbt", "Orphanet:70594" . _:117ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.89"; "MONDO:relatedTo", "i2s" . _:117cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562657"; "MONDO:equivalentTo", "MONDO:ontobio" . _:117d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612716"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612716"; "DOID:0111168", "MONDO:equivalentTo", "ORDO:70594/e", "Orphanet:70594" . _:117d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:45116002"; "DOID:0111168", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/27.16" . _:117d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268468"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268468"; "DOID:0111168", "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:612716", "Orphanet:70594" . _:117d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DRD due to SRD"; "DOID:0111168", "Orphanet:70594" . _:117d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DYT-SPR"; "https://www.ncbi.nlm.nih.gov/books/NBK304122/" . _:117d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPR deficiency"; "DOID:0111168", "OMIM:612716", "Orphanet:70594" . _:117d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRD"; "DOID:0111168" . _:117d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive sepiapterin reductase-deficient DRD"; "Orphanet:70594" . _:117dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dopa-responsive dystonia due to sepiapterin reductase deficiency"; "DOID:0111168" . _:117dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dopa-responsive dystonia due to sepiapterin reductase deficiency"; rdfs:comment "preferred label from MONDO" . _:117dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sepiapterin reductase deficiency"; "Orphanet:70594" . _:117ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency"; "OMIM:612716" . _:117ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:70594" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism.", "Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism."; , , , , , , , ; "Krause-Kivlin syndrome"@en, "Krause-van Schooneveld-Kivlin syndrome"@en, "Peters anomaly with short limb dwarfism"@en; "Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism."@en; "orphanet", "orphanet"@en; "DOID:0070312", "DOID:0080201", "GARD:0008422", "ICD-10:Q13.4", "ICD10:Q13.4", "ICD9:743.44", "MESH:C537617", "MONDO:0009856", "NCIT:C123436", "OMIM:261540", "SCTID:449817000", "UMLS:C0796012"; "Krause-Kivlin syndrome", "Krause-van Schooneveld-Kivlin syndrome", "Peters anomaly with short limb dwarfism", "Peters anomaly-short limb dwarfism syndrome", "Peters plus syndrome", "Peters-plus syndrome"; "Peters anomaly with short-limb dwarfism"; "Orphanet:709"; , ; rdfs:label "Peters plus syndrome", "Peters plus syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome"^^xsd:anyURI; "ORPHA:709" . _:117dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism."; "Orphanet:709" . _:117e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070312"; "MONDO:equivalentTo" . _:117e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080201"; "MONDO:equivalentTo" . _:117e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008422"; "MONDO:equivalentTo" . _:117e3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27600; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27600 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q13.4"; "Attributed"@en . _:117e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q13.4"; "NTBT (narrower term maps to a broader term)"@en . _:117e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q13.4"; "ORDO:709/attributed", "ORDO:709/ntbt", "Orphanet:709" . _:117e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.44"; "MONDO:relatedTo", "i2s" . _:117e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537617"; "MONDO:equivalentTo", "MONDO:ontobio" . _:117e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123436"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.77/6.02" . _:117e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261540"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261540"; "DOID:0070312", "MONDO:equivalentTo", "ORDO:709/e", "Orphanet:709" . _:117ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:449817000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:117ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796012"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:117edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796012"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C123436", "OMIM:261540", "Orphanet:709" . _:117eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Krause-Kivlin syndrome"; "DOID:0080201", "OMIM:261540", "Orphanet:709" . _:117efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Krause-van Schooneveld-Kivlin syndrome"; "Orphanet:709" . _:117f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peters anomaly with short limb dwarfism"; "Orphanet:709" . _:117f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peters anomaly-short limb dwarfism syndrome"; "DOID:0080201" . _:117f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peters plus syndrome"; rdfs:comment "preferred label from MONDO" . _:117f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peters-plus syndrome"; "DOID:0080201", "OMIM:261540" . _:117f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peters anomaly with short-limb dwarfism"; "OMIM:261540" . _:117f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0008422" . _:117f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:709" . _:117f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome"^^xsd:anyURI; "GARD:0008422" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare pulmonary hypertension"@en; "ORPHA:71198" . a owl:Class; rdfs:subClassOf , , , ; , ; "Rare bleeding disorder due to a constitutional platelet anomaly"@en, "Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia"@en, "Rare coagulopathy due to a constitutional platelet anomaly"@en, "Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia"@en, "Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia"@en; "ICD-10:D69.1", "ICD10:D69.1", "MONDO:0019097", "OMIM:616176", "OMIM:616913", "OMIM:616937", "UMLS:CN227572"; "Rare bleeding disorder due to a constitutional platelet anomaly", "Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia", "Rare coagulopathy due to a constitutional platelet anomaly", "Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia", "Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia", "rare bleeding disorder due to a constitutional platelet anomaly", "rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia", "rare coagulopathy due to a constitutional platelet anomaly", "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia", "rare hemorrhagic disorder due to a constitutional platelet anomaly", "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia"; "Orphanet:71202"; , ; rdfs:comment "Editor note: consider merge into parent"; rdfs:label "Rare hemorrhagic disorder due to a constitutional platelet anomaly", "Rare hemorrhagic disorder due to a constitutional platelet anomaly"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI; "ORPHA:71202" . _:117f8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27622; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.1"; "Attributed"@en . _:117f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.1"; "NTBT (narrower term maps to a broader term)"@en . _:117fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D69.1"; "ORDO:71202/attributed", "ORDO:71202/ntbt", "Orphanet:71202" . _:117fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616176"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:117fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616913"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:117fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616937"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:117fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227572"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:117ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a constitutional platelet anomaly"; "Orphanet:71202" . _:11800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia"; "Orphanet:71202" . _:11801d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a constitutional platelet anomaly"; "Orphanet:71202" . _:11802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia"; "Orphanet:71202" . _:11803d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hemorrhagic disorder due to a constitutional platelet anomaly"; rdfs:comment "preferred label from MONDO" . _:11804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia"; "Orphanet:71202" . _:11805d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:71202" . a owl:Class; rdfs:subClassOf ; "ICD-10:D69.3", "MedDRA:10050245", "UMLS:C0242584"; rdfs:label "Autoimmune thrombocytopenia"@en; "ORPHA:71203" . _:11806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.3"; "NTBT (narrower term maps to a broader term)"@en . _:11807d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10050245"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242584"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Rare mesenchymal tumor"@en; "UMLS:C0037579"; rdfs:label "Rare soft tissue tumor"@en; "ORPHA:71209" . _:11809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037579"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Devic disease"@en; "Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis."@en; "orphanet"@en; "ICD-10:G36.0", "MeSH:D009471", "MedDRA:10029322", "UMLS:C0027873"; rdfs:label "Neuromyelitis optica"@en; "ORPHA:71211" . _:1180ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G36.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1180bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009471"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1180cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029322"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1180dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027873"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , ; "Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure."; , , ; "Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"@en, "Hyperinsulinism due to SCHAD deficiency"@en, "Hyperinsulinism due to glutamodehydrogenase deficiency"@en, "SCHAD deficiency"@en; "Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure."@en; "orphanet", "orphanet"@en; "GARD:0009870", "ICD-10:E71.3", "ICD10:E71.3", "MESH:C535310", "MONDO:0009278", "OMIM:231530", "OMIM:609975", "UMLS:C1291230"; "HADH deficiency", "Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency", "Hyperinsulinism due to HADH deficiency", "Hyperinsulinism due to SCHAD deficiency", "Hyperinsulinism due to glutamodehydrogenase deficiency", "SCHAD deficiency", "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency", "hyperinsulinism due to SCHAD deficiency", "hyperinsulinism due to glutamodehydrogenase deficiency", "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"; "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency", "3-alpha hydroxyacyl-CoA dehydrogenase deficiency", "3-hydroxyacyl-CoA dehydrogenase deficiency", "3-hydroxyacyl-Coenzyme A dehydrogenase deficiency", "3-hydroxylacyl-CoA dehydrogenase deficiency", "HADH deficiency", "HADHSC deficiency", "Hadh deficiency", "L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency", "M-SCHAD deficiency", "M/SCHAD", "SCHAD deficiency, formerly", "had deficiency", "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency"; "Orphanet:71212"; , ; rdfs:label "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency", "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency"^^xsd:anyURI; "ORPHA:71212" . _:1180ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure."; "Orphanet:71212" . _:1180fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009870"; "MONDO:equivalentTo" . _:11810d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27647; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27647 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "Attributed"@en . _:11811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "NTBT (narrower term maps to a broader term)"@en . _:11812d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:71212/attributed", "ORDO:71212/ntbt", "Orphanet:71212" . _:11813d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535310"; "MONDO:equivalentTo" . _:11814d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:231530"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11815d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:231530"; "GARD:0009870", "MONDO:equivalentTo", "ORDO:71212/e", "Orphanet:71212" . _:11816d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609975"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11817d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1291230"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11818d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCHAD deficiency"; "MESH:C535310", "OMIM:231530", "Orphanet:71212" . _:11819d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"; "Orphanet:71212" . _:1181ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to SCHAD deficiency"; "Orphanet:71212" . _:1181bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to glutamodehydrogenase deficiency"; "Orphanet:71212" . _:1181cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"; rdfs:comment "preferred label from MONDO" . _:1181dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency"; "MESH:C535310" . _:1181ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-alpha hydroxyacyl-CoA dehydrogenase deficiency"; "GARD:0009870" . _:1181fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-hydroxyacyl-CoA dehydrogenase deficiency"; "OMIM:231530" . _:11820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-hydroxyacyl-Coenzyme A dehydrogenase deficiency"; "MESH:C535310" . _:11821d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-hydroxylacyl-CoA dehydrogenase deficiency"; "GARD:0009870" . _:11822d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HADH deficiency"; "GARD:0009870", "MESH:C535310" . _:11823d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HADHSC deficiency"; "MESH:C535310" . _:11824d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hadh deficiency"; "OMIM:231530" . _:11825d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency"; "MESH:C535310" . _:11826d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "M-SCHAD deficiency"; "MESH:C535310" . _:11827d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "M/SCHAD"; "GARD:0009870" . _:11828d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCHAD deficiency, formerly"; "OMIM:231530" . _:11829d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "had deficiency"; "MESH:C535310" . _:1182ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency"; "GARD:0009870" . _:1182bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:71212" . _:1182cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency"^^xsd:anyURI; "GARD:0009870" . a owl:Class; rdfs:subClassOf ; "Left renal vein entrapment syndrome"@en, "RNS"@en; "A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices."@en; "orphanet"@en; "MeSH:D059228", "UMLS:C3178770"; rdfs:label "Renal nutcracker syndrome"@en; "ORPHA:71273" . _:1182dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D059228"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1182ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3178770"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , ; "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities."; , , , , , ; "GSD due to phosphoglycerate kinase 1 deficiency"@en, "Glycogenosis due to phosphoglycerate kinase 1 deficiency"@en; "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities."@en; "orphanet"@en; "GARD:0007389", "ICD-10:E74.0", "ICD10:D55.2", "ICD10:E74.0", "MESH:C567067", "MONDO:0010392", "NCIT:C126738", "OMIM:300653", "UMLS:C0684324", "UMLS:C1970848"; "GSD due to phosphoglycerate kinase 1 deficiency", "Glycogenosis due to phosphoglycerate kinase 1 deficiency", "PGK1 glycogen storage disease", "glycogen storage disease caused by mutation in PGK1", "glycogen storage disease due to phosphoglycerate kinase 1 deficiency", "glycogenosis due to phosphoglycerate kinase 1 deficiency"; "PGK deficiency", "PHOSPHOGLYCERATE KINASE 1 deficiency", "Pgk1 deficiency", "Phosphoglycerate kinase deficiency"; "Orphanet:713"; ; rdfs:label "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency", "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"@en; "ORPHA:713" . _:1182fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities."; "Orphanet:713" . _:11830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007389"; "MONDO:equivalentTo", "shared-umls-xref" . _:11831d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27681; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27681 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Attributed"@en . _:11832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:11833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:713/attributed", "ORDO:713/ntbt", "Orphanet:713" . _:11834d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567067"; "MONDO:equivalentTo", "MONDO:ontobio" . _:11835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126738"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.77/7.15" . _:11836d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300653"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300653"; "MONDO:equivalentTo", "ORDO:713/e", "Orphanet:713" . _:11838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0684324"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11839d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970848"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1183ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970848"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C126738", "OMIM:300653", "Orphanet:713" . _:1183bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to phosphoglycerate kinase 1 deficiency"; "Orphanet:713" . _:1183cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGK1 glycogen storage disease"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:1183dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease caused by mutation in PGK1"; "MONDO:design_pattern" . _:1183ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to phosphoglycerate kinase 1 deficiency"; rdfs:comment "preferred label from MONDO" . _:1183fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to phosphoglycerate kinase 1 deficiency"; "Orphanet:713" . _:11840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGK deficiency"; "GARD:0007389" . _:11841d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHOSPHOGLYCERATE KINASE 1 deficiency"; "OMIM:300653" . _:11842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pgk1 deficiency"; "OMIM:300653" . _:11843d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phosphoglycerate kinase deficiency"; "GARD:0007389" . _:11844d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:713" . a owl:Class; rdfs:subClassOf , , , , , , ; "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients."; , , , , ; , , , , , , , ; "PAH deficiency"@en, "PKU"@en, "Phenylalanine hydroxylase deficiency"@en; "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients."@en; "orphanet", "orphanet"@en; "DOID:9281", "GARD:0007383", "ICD-10:E70.0", "ICD-10:E70.1", "ICD10:E70.0", "ICD10:E70.1", "ICD9:270.1", "MESH:D010661", "MONDO:0009861", "MSH:D010661", "MeSH:D010661", "MedDRA:10034872", "NCIT:C81315", "OMIM:261600", "SCTID:7573000", "UMLS:C0031485"; "Følling's disease", "F��lling's disease", "PAH deficiency", "PKU", "Phenylalanine hydroxylase deficiency", "classical phenylketonuria", "maternal phenylketonuria", "phenylalanine hydroxylase deficiency", "phenylalaninemia", "phenylketonuria"; "Folling disease", "HPA, non-PKU mild", "Pah deficiency", "folling's syndrome", "hyperphenylalaninemia, non-PKU mild", "imbecilitus phenylpyruvica", "oligophrenia Phenylpyruvica", "oligophrenia phenylpyruvica", "pah deficiency", "phenylketonuria, maternal", "phenylketonuria; PKU", "phenylpyruvic oligophrenia"; "Orphanet:716"; , ; rdfs:label "Phenylketonuria", "Phenylketonuria"@en; "ORPHA:716" . _:11845d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients."; "Orphanet:716" . _:11846d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9281"; "MONDO:equivalentTo" . _:11847d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007383"; "MONDO:equivalentTo", "Orphanet-shared" . _:11848d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27705; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27705 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.0"; "Attributed"@en . _:11849d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.0"; "NTBT (narrower term maps to a broader term)"@en . _:1184ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "Attributed"@en . _:1184bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.1"; "NTBT (narrower term maps to a broader term)"@en . _:1184cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.0"; "ORDO:716/attributed", "ORDO:716/ntbt", "Orphanet:716" . _:1184dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.1"; "ORDO:716/attributed", "ORDO:716/ntbt", "Orphanet:716" . _:1184ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.1"; "DOID:9281" . _:1184fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D010661"; "DOID:9281", "MONDO:equivalentTo", "ORDO:716/e", "Orphanet:716" . _:11850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D010661"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11851d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034872"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11852d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10034872"; "ORDO:716/e", "Orphanet:716" . _:11853d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C81315"; "DOID:9281", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.77/0.63" . _:11854d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11855d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261600"; "DOID:9281", "MONDO:equivalentTo", "ORDO:716/e", "Orphanet:716" . _:11856d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:7573000"; "MONDO:equivalentTo" . _:11857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031485"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11858d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031485"; "DOID:9281", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C81315", "ORDO:716/e", "Orphanet:716" . _:11859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Følling's disease"; "DOID:9281" . _:1185ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F��lling's disease"; "DOID:9281" . _:1185bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAH deficiency"; "Orphanet:716" . _:1185cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PKU"; "DOID:9281", "MONDO:Lexical", "MTHICD9_2006:270.1", "OMIM:261600", "Orphanet:716" . _:1185dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "maternal phenylketonuria"; "DOID:9281" . _:1185ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phenylalanine hydroxylase deficiency"; "OMIM:261600", "Orphanet:716" . _:1185fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phenylalaninemia"; "CSP2005:1849-1177", "DOID:9281" . _:11860d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phenylketonuria"; "MONDO:Lexical", "OMIM:261600" . _:11861d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phenylketonuria"; rdfs:comment "preferred label from MONDO" . _:11862d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Folling disease"; "OMIM:261600" . _:11863d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPA, non-PKU mild"; "OMIM:261600" . _:11864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pah deficiency"; "OMIM:261600" . _:11865d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperphenylalaninemia, non-PKU mild"; "OMIM:261600" . _:11866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oligophrenia Phenylpyruvica"; "OMIM:261600" . _:11867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phenylketonuria, maternal"; "OMIM:261600" . _:11868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phenylketonuria; PKU"; "OMIM:261600" . _:11869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:716" . a owl:Class; rdfs:subClassOf ; "Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)."@en; "orphanet"@en; rdfs:label "Catecholamine-producing tumor"@en; "ORPHA:717" . a owl:Class; rdfs:subClassOf , , , ; "Isolated Pierre Robin sequence"@en; "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft."@en; "orphanet"@en; "ICD-10:Q87.0", "ICD10:Q87.0", "OMIM:261800", "UMLS:C0031900"; "Isolated Pierre Robin sequence"; rdfs:label "Isolated Pierre Robin syndrome", "Isolated Pierre Robin syndrome"@en; "ORPHA:718" . _:1186ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27740; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27740 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1186bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "NTBT (narrower term maps to a broader term)"@en . _:1186cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1186dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "An instance of nervous system disease that is caused by a modification of the individual's genome."; , ; "MONDO:0019117", "UMLS:CN205639"; "genetic nervous system disorder", "genetic neurological disorder", "rare genetic neurological disorder"; "Orphanet:71859"; ; rdfs:label "Rare genetic neurological disorder", "Rare genetic neurological disorder"@en; "ORPHA:71859" . _:1186ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of nervous system disease that is caused by a modification of the individual's genome."; "MONDO:patterns/genetic" . _:1186fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205639"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:11870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic nervous system disorder"; "MONDO:patterns/genetic" . _:11871d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic nervous system disorder"; rdfs:comment "preferred label from MONDO" . _:11872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic neurological disorder"; "MONDO:cjm" . _:11873d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare genetic neurological disorder"; "Orphanet:71859" . _:11874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:71859" . a owl:Class; rdfs:subClassOf , , , ; "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."; , , ; , , , , , , , , , , ; ; "Retinal dystrophy"@en; "fundus dystrophy"; "COHD:377270", "COHD:380395", "DOID:8500", "DOID:8501", "HP:0000556", "ICD10:H35.5", "ICD10:H35.50", "ICD9:362.7", "ICD9:362.70", "ICD9:362.72", "ICD9:362.75", "MESH:D058499", "MONDO:0019118", "MSH:D058499", "MeSH:D058499", "MedDRA:10038857", "NCIT:C35194", "NCIT:C35625", "OMIM:610125", "SCTID:314407005", "SCTID:41799005", "UMLS:C0154860", "UMLS:C0854723"; "familial retinal dystrophy", "genetic retinal dystrophy", "hereditary retinal degeneration", "hereditary retinal dystrophy", "inherited retinal dystrophy", "retinal degeneration", "retinal dystrophy"; "Orphanet:71862"; ; rdfs:comment "Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same"; rdfs:label "Inherited retinal disorder"@en, "Retinal dystrophy"; "ORPHA:71862" . _:11875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:11876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:8500", "NCIT:C35194", "linkedlifedata" . _:11877d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fundus dystrophy"; "MONDO:0004590" . _:11878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:377270"; "MONDO:equivalentTo" . _:11879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:380395"; "MONDO:equivalentTo" . _:1187ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8500"; "MONDO:equivalentTo" . _:1187bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:8501"; "MONDO:equivalentTo" . _:1187cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000556"; "MONDO:otherHierarchy", "ontobio" . _:1187dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "DOID:8500", "MONDO:equivalentTo" . _:1187ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.50"; "DOID:8500" . _:1187fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.7"; "DOID:8500" . _:11880d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.70"; "DOID:8500", "MONDO:equivalentTo", "i2s" . _:11881d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.72"; "MONDO:relatedTo", "i2s" . _:11882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:362.75"; "MONDO:relatedTo", "i2s" . _:11883d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058499"; "DOID:8501", "MONDO:equivalentTo", "ORDO:71862/e", "Orphanet:71862" . _:11884d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058499"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11885d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038857"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11886d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038857"; "ORDO:71862/e", "Orphanet:71862" . _:11887d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35194"; "DOID:8500", "MONDO:equivalentTo" . _:11888d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35625"; "DOID:8501", "MONDO:equivalentTo" . _:11889d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610125"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1188ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:314407005"; "DOID:8501", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:1188bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:41799005"; "DOID:8500", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.27" . _:1188cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154860"; "DOID:8500", "MONDO:equivalentTo", "NCIT:C35194" . _:1188dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0854723"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1188ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0854723"; "DOID:8501", "MONDO:equivalentTo", "NCIT:C35625", "ORDO:71862/e", "Orphanet:71862" . _:1188fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary retinal degeneration"; "MONDO:patterns/hereditary" . _:11890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary retinal dystrophy"; "MONDO:0004589" . _:11891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited retinal dystrophy"; rdfs:comment "preferred label from MONDO" . _:11892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinal dystrophy"; "DOID:8501", "NCIT:C35625" . _:11893d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:71862" . a owl:Class; rdfs:subClassOf ; rdfs:label "Muscular channelopathy"@en; "ORPHA:71864" . a owl:Class; rdfs:subClassOf , , , , ; "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features."; ; , , , , , , , , ; "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features."@en; "orphanet", "orphanet"@en; "DOID:1932", "GARD:0005810", "ICD-10:Q93.5", "ICD10:Q93.5", "ICD10:Q93.51", "ICD9:759.89", "MESH:C531619", "MESH:D017204", "MONDO:0007113", "MSH:D017204", "MeSH:D017204", "MedDRA:10049004", "NCIT:C75462", "OMIM:105830", "SCTID:76880004", "UMLS:C0162635"; "Angelman syndrome", "happy puppet syndrome", "puppetlike syndrome"; "AS", "Angelman syndrome chromosome region", "Angelman syndrome; AS", "happy puppet syndrome (formerly)", "happy puppet syndrome, formerly"; "Orphanet:72"; ; rdfs:label "Angelman syndrome", "Angelman syndrome"@en; "ORPHA:72" . _:11894d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features."; "Orphanet:72" . _:11895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1932"; "MONDO:equivalentTo" . _:11896d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005810"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11897d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27786; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27786 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q93.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q93.5"; "NTBT (narrower term maps to a broader term)"@en . _:11899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "DOID:1932", "ORDO:72/inclusion", "ORDO:72/ntbt", "Orphanet:72" . _:1189ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.51"; "MONDO:equivalentTo", "https://www.angelmanbiomarkers.org/special-announcement-angelman-specific-icd-10-code-q93-51-is-finally-here/" . _:1189bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:1189cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C531619"; "MONDO:equivalentTo" . _:1189dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017204"; "DOID:1932", "MONDO:equivalentTo", "ORDO:72/e", "Orphanet:72" . _:1189ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017204"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1189fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049004"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049004"; "ORDO:72/e", "Orphanet:72" . _:118a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75462"; "DOID:1932", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:118a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:105830"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:105830"; "DOID:1932", "MONDO:equivalentTo", "ORDO:72/e", "Orphanet:72" . _:118a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:76880004"; "DOID:1932", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:118a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162635"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162635"; "DOID:1932", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C75462", "OMIM:105830", "ORDO:72/e", "Orphanet:72" . _:118a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Angelman syndrome"; "MONDO:Lexical", "OMIM:105830" . _:118a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Angelman syndrome"; rdfs:comment "preferred label from MONDO" . _:118a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "happy puppet syndrome"; "DOID:1932", "OMIM:105830"; . _:118aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "puppetlike syndrome"; "CSP2005:4008-0043", "DOID:1932"; . _:118abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AS"; "MONDO:Lexical", "OMIM:105830" . _:118acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Angelman syndrome chromosome region"; "OMIM:105830" . _:118add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Angelman syndrome; AS"; "OMIM:105830" . _:118aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "happy puppet syndrome (formerly)"; "GARD:0005810"; . _:118afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "happy puppet syndrome, formerly"; "OMIM:105830"; . _:118b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:72" . a owl:Class; rdfs:subClassOf ; "MPA"@en, "Micropolyangiitis"@en, "Microscopic polyarteritis"@en; "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs."@en; "orphanet"@en; "ICD-10:M31.7", "MeSH:D055953", "MedDRA:10063344", "UMLS:C0343192"; rdfs:label "Microscopic polyangiitis"@en; "ORPHA:727" . _:118b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.7"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D055953"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063344"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0343192"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement."@en; "orphanet"@en; "ICD-10:M94.1", "MeSH:D011081", "MedDRA:10038304", "UMLS:C0032453"; rdfs:label "Relapsing polychondritis"@en; "ORPHA:728" . _:118b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M94.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118b6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27818; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27818 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M94.1"; "Specific code (The term has its own code in the ICD10)"@en . _:118b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011081"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038304"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032453"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , ; "Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement."; ; , , , , , , , ; "AR-PKD"@en; "A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys."@en; "orphanet"@en; "DOID:0110861", "GARD:0008378", "ICD-10:Q61.1", "ICD10:Q61.1", "ICD9:753.14", "MONDO:0009889", "MSH:D017044", "MeSH:D017044", "MedDRA:10036047", "NCIT:C84579", "OMIM:263200", "OMIM:617610", "OMIM:617874", "OMIM:617875", "SCTID:28770003", "UMLS:C0085548"; "AR-PKD", "ARPKD", "autosomal recessive polycystic kidney", "autosomal recessive polycystic kidney disease", "polycystic kidney disease, autosomal recessive", "polycystic kidney disease, infantile type"; "polycystic kidney and hepatic disease 1", "polycystic kidney disease, infantile, type I"; "PKHD1", "polycystic kidney disease, autosomal recessive", "polycystic kidney disease, autosomal recessive; ARPKD"; "Orphanet:731"; ; rdfs:label "Autosomal recessive polycystic kidney disease", "Autosomal recessive polycystic kidney disease"@en; "ORPHA:731" . _:118bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement."; "Orphanet:731" . _:118bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0110861"; "MONDO:equivalentTo" . _:118bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008378"; "MONDO:equivalentTo", "Orphanet-shared" . _:118bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118bed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27827; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27827 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q61.1"; "Specific code (The term has its own code in the ICD10)"@en . _:118bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q61.1"; "DOID:0110861", "ORDO:731/e", "ORDO:731/specific", "Orphanet:731" . _:118c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:753.14"; "MONDO:equivalentTo", "i2s" . _:118c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017044"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036047"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036047"; "ORDO:731/e", "Orphanet:731" . _:118c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84579"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.86/0.09" . _:118c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:263200"; "BTNT (broader term maps to a narrower term)"@en . _:118c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617610"; "BTNT (broader term maps to a narrower term)"@en . _:118c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617610"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:118c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:28770003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.72/0.42/0.08" . _:118c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085548"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085548"; "DOID:0110861", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84579", "OMIM:263200", "ORDO:731/e", "Orphanet:731" . _:118cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AR-PKD"; "Orphanet:731" . _:118ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARPKD"; "DOID:0110861", "MONDO:Lexical" . _:118cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive polycystic kidney"; "NCIT:C84579" . _:118ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive polycystic kidney disease"; rdfs:comment "preferred label from MONDO" . _:118cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic kidney disease, autosomal recessive"; "MONDO:patterns/autosomal_recessive" . _:118d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic kidney disease, infantile type"; "NCIT:C84579" . _:118d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic kidney and hepatic disease 1"; "DOID:0110861" . _:118d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic kidney disease, infantile, type I"; "DOID:0110861" . _:118d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PKHD1"; "DOID:0110861" . _:118d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic kidney disease, autosomal recessive"; "MONDO:Lexical", "OMIM:263200" . _:118d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic kidney disease, autosomal recessive; ARPKD"; "OMIM:263200" . _:118d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:731" . a owl:Class; rdfs:subClassOf ; "PM"@en; "Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes."@en; "orphanet"@en; "ICD-10:M33.2", "MeSH:D017285", "MedDRA:10036102", "UMLS:C0085655"; rdfs:label "Polymyositis"@en; "ORPHA:732" . _:118d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M33.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017285"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036102"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085655"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; , , , ; ; "Aplasia of the Müllerian ducts"@en, "Müllerian duct failure"@en; "MESH:C537371", "MONDO:0019128", "MSH:C537371", "MeSH:C537371", "SCTID:253828000", "UMLS:C0431637"; "Aplasia of the Müllerian ducts", "Mullerian duct failure", "Müllerian duct failure", "aplasia of the Mullerian ducts", "aplasia of the Müllerian ducts", "mullerian aplasia"; "Müllerian aplasia"; "Orphanet:73217"; ; rdfs:label "Müllerian aplasia", "Müllerian aplasia"@en; "ORPHA:73217" . _:118dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:73217" . _:118dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537371"; "MONDO:equivalentTo", "ORDO:73217/e", "Orphanet:73217" . _:118ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537371"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:253828000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:118dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0431637"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mullerian duct failure"; "Orphanet:73217" . _:118e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Müllerian duct failure"; "Orphanet:73217" . _:118e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aplasia of the Mullerian ducts"; "Orphanet:73217" . _:118e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aplasia of the Müllerian ducts"; "Orphanet:73217" . _:118e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mullerian aplasia"; rdfs:comment "preferred label from MONDO" . _:118e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Müllerian aplasia"; "Orphanet:73217" . _:118e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:73217" . a owl:Class; rdfs:subClassOf , , ; "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures."; , , , , ; "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome"@en, "Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome"@en; "A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye."@en; "orphanet"@en; "GARD:0010889", "ICD-10:I99", "ICD10:H35.0", "ICD10:I99", "ICD10:R31", "ICD9:758.89", "MESH:C567088", "MONDO:0012726", "OMIM:611773", "SCTID:702428000", "UMLS:C2673195"; "HANAC syndrome", "Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome", "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome", "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome"; "HANAC", "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps", "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; HANAC", "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome"; "Orphanet:73229"; ; rdfs:label "Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures", "HANAC syndrome"@en; "ORPHA:73229" . _:118e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures."; "Orphanet:73229" . _:118e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010889"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:118e9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27871; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27871 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I99"; "Attributed"@en . _:118ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I99"; "NTBT (narrower term maps to a broader term)"@en . _:118ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I99"; "ORDO:73229/attributed", "ORDO:73229/ntbt", "Orphanet:73229" . _:118ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.89"; "MONDO:relatedTo", "i2s" . _:118edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567088"; "MONDO:equivalentTo", "MONDO:ontobio" . _:118eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611773"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611773"; "MONDO:equivalentTo", "ORDO:73229/e", "Orphanet:73229" . _:118f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:702428000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/4.95" . _:118f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2673195"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:118f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2673195"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:611773", "Orphanet:73229" . _:118f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HANAC syndrome"; "Orphanet:73229" . _:118f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome"; rdfs:comment "preferred label from MONDO" . _:118f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome"; "Orphanet:73229" . _:118f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HANAC"; "MONDO:Lexical", "OMIM:611773" . _:118f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps"; "MONDO:Lexical", "OMIM:611773" . _:118f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; HANAC"; "OMIM:611773" . _:118f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome"; "GARD:0010889" . _:118fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:73229" . a owl:Class; rdfs:subClassOf ; "Mucormycosis"@en; "ICD-10:B46.0", "ICD-10:B46.1", "ICD-10:B46.2", "ICD-10:B46.3", "ICD-10:B46.4", "ICD-10:B46.5", "ICD-10:B46.8", "ICD-10:B46.9", "MeSH:D009091", "MeSH:D020096", "MedDRA:10028098", "MedDRA:10061418", "UMLS:C0026718", "UMLS:C0043541"; rdfs:label "Zygomycosis"@en; "ORPHA:73263" . _:118fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B46.0"; "BTNT (broader term maps to a narrower term)"@en . _:118fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B46.1"; "BTNT (broader term maps to a narrower term)"@en . _:118fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B46.2"; "BTNT (broader term maps to a narrower term)"@en . _:118fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B46.3"; "BTNT (broader term maps to a narrower term)"@en . _:118ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B46.4"; "BTNT (broader term maps to a narrower term)"@en . _:11900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B46.5"; "BTNT (broader term maps to a narrower term)"@en . _:11901d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B46.8"; "BTNT (broader term maps to a narrower term)"@en . _:11902d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B46.9"; "BTNT (broader term maps to a narrower term)"@en . _:11903d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009091"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11904d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020096"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11905d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028098"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061418"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11907d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026718"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11908d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043541"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)."; ; , , , ; "Resistance to IGF-1"@en; "Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)."@en; "orphanet"@en; "GARD:0010609", "ICD-10:E34.3", "ICD10:E34.3", "MONDO:0010038", "OMIM:270450", "SCTID:715625007", "UMLS:C1849157"; "Resistance to IGF-1", "growth delay due to insulin-like growth factor I resistance", "resistance to IGF-1"; "IGF-1 resistance", "IGF-I resistance", "IGF1RES", "Somatomedin end-organ insensitivity to", "Somatomedin, end-organ insensitivity to", "Somatomedin-C, resistance to", "Somatomedin-c resistance to", "insulin-like Growth Factor I, resistance to, due to increased binding Protein", "insulin-like growth factor 1 resistance to", "insulin-like growth factor I, resistance to", "insulin-like growth factor I, resistance to; IGF1RES"; "Orphanet:73273"; , ; rdfs:label "Growth delay due to insulin-like growth factor I resistance", "Growth delay due to insulin-like growth factor I resistance"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to"^^xsd:anyURI; "ORPHA:73273" . _:11909d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)."; "Orphanet:73273" . _:1190ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010609"; "MONDO:equivalentTo" . _:1190bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27906; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27906 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.3"; "Attributed"@en . _:1190cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.3"; "NTBT (narrower term maps to a broader term)"@en . _:1190dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.3"; "ORDO:73273/attributed", "ORDO:73273/ntbt", "Orphanet:73273" . _:1190ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:270450"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1190fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:270450"; "GARD:0010609", "MONDO:equivalentTo", "ORDO:73273/e", "Orphanet:73273" . _:11910d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715625007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849157"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11912d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1849157"; "GARD:0010609", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:270450", "Orphanet:73273" . _:11913d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "growth delay due to insulin-like growth factor I resistance"; rdfs:comment "preferred label from MONDO" . _:11914d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "resistance to IGF-1"; "Orphanet:73273" . _:11915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGF-1 resistance"; "GARD:0010609" . _:11916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGF-I resistance"; "OMIM:270450" . _:11917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGF1RES"; "OMIM:270450" . _:11918d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Somatomedin end-organ insensitivity to"; "GARD:0010609" . _:11919d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Somatomedin, end-organ insensitivity to"; "OMIM:270450" . _:1191ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Somatomedin-C, resistance to"; "OMIM:270450" . _:1191bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Somatomedin-c resistance to"; "GARD:0010609" . _:1191cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-like Growth Factor I, resistance to, due to increased binding Protein"; "OMIM:270450" . _:1191dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-like growth factor 1 resistance to"; "GARD:0010609" . _:1191ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-like growth factor I, resistance to"; "OMIM:270450" . _:1191fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "insulin-like growth factor I, resistance to; IGF1RES"; "OMIM:270450" . _:11920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:73273" . _:11921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to"^^xsd:anyURI; "GARD:0010609" . a owl:Class; rdfs:subClassOf ; "A rare hemorrhagic disorder due to an acquired coagulation factor defect characterized by sudden, spontaneous, and often severe bleeding, manifesting with skin, muscle and mucuous membrane hemorrhages, in persons without a previous bleeding tendency. Additional symptoms may include epistaxis, gastrointestinal and/or urogenital bleeding, spontaneous bruising, melena, and hematuria."@en; "orphanet"@en; "ICD-10:D68.4", "MedDRA:10053745", "UMLS:C1096116"; rdfs:label "Acquired hemophilia"@en; "ORPHA:73274" . _:11922d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11923d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053745"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11924d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1096116"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life."; , , , , , ; , , , , , , , ; "Colorectal adenomatous polyposis"@en, "FAP"@en, "Familial polyposis coli"@en; "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life."@en; "orphanet", "orphanet"@en; "DC:0000707", "DOID:0050424", "GARD:0006408", "ICD-10:D12.6", "ICD10:D12.6", "ICDO:8220/0", "MONDO:0021055", "MSH:D011125", "MeSH:D011125", "MedDRA:10056981", "NCIT:C3339", "OMIM:175100", "OMIM:616415", "OMIM:617100", "OMIMPS:175100", "SCTID:72900001", "UMLS:C0032580", "UMLS:CN240755"; "APC - adenomatous polyposis coli", "Colorectal adenomatous polyposis", "FAP", "Familial polyposis coli", "adenomatous polyposis coli", "adenomatous polyposis of the colon", "classic FAP", "classic familial adenomatous polyposis", "colorectal adenomatous polyposis", "familial adenomatous polyposis", "familial adenomatous polyposis coli", "familial adenomatous polyposis syndrome", "familial polyposis", "familial polyposis coli", "hereditary adenomatous polyposis coli", "polyposis coli"; "FPC", "familial adenomatous polyposis of the colon", "familial multiple polyposis", "hereditary polyposis coli"; "Orphanet:733"; ; rdfs:label "Familial adenomatous polyposis", "Familial adenomatous polyposis"@en; "ORPHA:733" . _:11925d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life."; "Orphanet:733" . _:11926d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000707"; "MONDO:equivalentTo" . _:11927d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050424"; "MONDO:equivalentTo" . _:11928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006408"; "MONDO:equivalentTo", "Orphanet-shared" . _:11929d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27937; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27937 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D12.6"; "Attributed"@en . _:1192ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D12.6"; "NTBT (narrower term maps to a broader term)"@en . _:1192bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D12.6"; "ORDO:733/attributed", "ORDO:733/ntbt", "Orphanet:733" . _:1192cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:8220/0"; "NCIT:C3339" . _:1192dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011125"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1192ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056981"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1192fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056981"; "ORDO:733/e", "Orphanet:733" . _:11930d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3339"; "DOID:0050424", "MONDO:equivalentTo" . _:11931d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:175100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11932d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616415"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11933d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617100"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:175100"; "DC:0000707", "MONDO:equivalentTo" . _:11935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:72900001"; "DOID:0050424", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.49" . _:11936d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032580"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032580"; "DOID:0050424", "MONDO:equivalentTo", "NCIT:C3339", "ORDO:733/e", "Orphanet:733" . _:11938d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN240755"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:11939d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APC - adenomatous polyposis coli"; "NCIT:C3339" . _:1193ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAP"; "NCIT:C3339", "Orphanet:733" . _:1193bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenomatous polyposis coli"; "NCIT:C3339" . _:1193cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenomatous polyposis of the colon"; "DOID:0050424" . _:1193dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic FAP"; "MONDO:cjm" . _:1193ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic familial adenomatous polyposis"; rdfs:comment "preferred label from MONDO" . _:1193fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colorectal adenomatous polyposis"; "Orphanet:733" . _:11940d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis"; "NCIT:C3339" . _:11941d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis coli"; "NCIT:C3339" . _:11942d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis syndrome"; "NCIT:C3339" . _:11943d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial polyposis"; "NCIT:C3339" . _:11944d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial polyposis coli"; "Orphanet:733" . _:11945d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary adenomatous polyposis coli"; "NCIT:C3339" . _:11946d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polyposis coli"; "NCIT:C3339" . _:11947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FPC"; "GARD:0006408" . _:11948d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial adenomatous polyposis of the colon"; "GARD:0006408" . _:11949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial multiple polyposis"; "GARD:0006408" . _:1194ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary polyposis coli"; "GARD:0006408" . _:1194bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:733" . a owl:Class; rdfs:subClassOf , , , , , ; "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.", "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both."; ; "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both."@en; "orphanet", "orphanet"@en; "ICD-10:E80.0", "ICD-10:E80.1", "ICD-10:E80.2", "ICD10:E80.0", "ICD10:E80.1", "ICD10:E80.2", "MSH:D011164", "MeSH:D011164", "MedDRA:10036181", "MedDRA:10061356", "SCTID:418470004", "UMLS:C0032708", "UMLS:C0235387"; "porphyria"; "Orphanet:738"; rdfs:comment "Represents both genetic and sporadic forms"; rdfs:label "Porphyria", "Porphyria"@en; "ORPHA:738" . _:1194cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS."; "MONDO:cjm", "https://en.wikipedia.org/wiki/Porphyria" . _:1194dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.0"; "BTNT (broader term maps to a narrower term)"@en . _:1194ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27975; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27975 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.0"; "Specific code (The term has its own code in the ICD10)"@en . _:1194fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.1"; "BTNT (broader term maps to a narrower term)"@en . _:11950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.1"; "Specific code (The term has its own code in the ICD10)"@en . _:11951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "BTNT (broader term maps to a narrower term)"@en . _:11952d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "Specific code (The term has its own code in the ICD10)"@en . _:11953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011164"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11954d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036181"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11955d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061356"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11956d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:418470004"; "MONDO:equivalentTo" . _:11957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032708"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11958d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0235387"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11959d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems."; , , ; , , , , , , , ; "Prader-Labhart-Willi syndrome"@en, "Willi-Prader syndrome"@en; "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems."@en; "orphanet"@en; "COHD:441963", "DOID:11983", "GARD:0005575", "ICD-10:Q87.1", "ICD10:Q87.1", "ICD9:759.81", "MESH:D011218", "MONDO:0008300", "MSH:D011218", "MeSH:D011218", "MedDRA:10036476", "NCIT:C75463", "OMIM:176270", "OMIM:615547", "SCTID:89392001", "UMLS:C0032897"; "Prader Willi syndrome", "Prader-Labhart-Willi syndrome", "Prader-Willi syndrome", "Prader-Willi-Labhart syndrome", "Willi-Prader syndrome"; "PWS", "Prader-Willi syndrome chromosome region", "Prader-Willi syndrome; PWS", "Prader-Willi-like syndrome associated with chromosome 6", "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet"; "Orphanet:739"; , ; rdfs:label "Prader-Willi syndrome", "Prader-Willi syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome"^^xsd:anyURI; "ORPHA:739" . _:1195ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems."; "Orphanet:739" . _:1195bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:441963"; "MONDO:equivalentTo" . _:1195cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11983"; "MONDO:equivalentTo" . _:1195dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005575"; "MONDO:equivalentTo" . _:1195ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid27992; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid27992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1195fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:11960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "DOID:11983", "ORDO:739/inclusion", "ORDO:739/ntbt", "Orphanet:739" . _:11961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.81"; "DOID:11983", "MONDO:equivalentTo", "i2s" . _:11962d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011218"; "DOID:11983", "MONDO:equivalentTo", "ORDO:739/e", "Orphanet:739" . _:11963d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011218"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036476"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036476"; "ORDO:739/e", "Orphanet:739" . _:11966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75463"; "DOID:11983", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:11967d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176270"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176270"; "DOID:11983", "MONDO:equivalentTo", "ORDO:739/e", "Orphanet:739" . _:11969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615547"; "BTNT (broader term maps to a narrower term)"@en . _:1196ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:89392001"; "DOID:11983", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:1196bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032897"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1196cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032897"; "DOID:11983", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C75463", "OMIM:176270", "ORDO:739/e", "Orphanet:739" . _:1196dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader Willi syndrome"; "CSP2005:1849-7731", "DOID:11983" . _:1196ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Labhart-Willi syndrome"; "OMIM:176270", "Orphanet:739" . _:1196fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome"; "MONDO:Lexical", "OMIM:176270" . _:11970d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome"; rdfs:comment "preferred label from MONDO" . _:11971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi-Labhart syndrome"; "NCIT:C75463" . _:11972d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Willi-Prader syndrome"; "Orphanet:739" . _:11973d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PWS"; "MONDO:Lexical", "OMIM:176270" . _:11974d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome chromosome region"; "OMIM:176270" . _:11975d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome; PWS"; "OMIM:176270" . _:11976d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi-like syndrome associated with chromosome 6"; "OMIM:176270" . _:11977d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet"; "GARD:0005575" . _:11978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005575" . _:11979d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:739" . _:1197ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome"^^xsd:anyURI; "GARD:0005575" . a owl:Class; rdfs:subClassOf , , , ; "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C."; , ; , , , , , ; "Autosomal recessive thrombophilia due to PC deficiency"@en, "Autosomal recessive thrombophilia due to congenital protein C deficiency"@en; "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C."@en; "orphanet"@en; "DOID:3756", "ICD-10:D68.2", "ICD10:D68.2", "ICD10:D68.59", "MESH:C535424", "MESH:D020151", "MONDO:0019145", "NCIT:C99025", "OMIM:176860", "OMIM:612304", "SCTID:76407009", "UMLS:C0398625", "UMLS:C2930896"; "Hereditary thrombophilia due to PC deficiency", "Protein C deficiency", "Protein C deficiency disease", "autosomal recessive thrombophilia due to PC deficiency", "autosomal recessive thrombophilia due to congenital protein C deficiency", "hereditary thrombophilia due to PC deficiency", "hereditary thrombophilia due to congenital protein C deficiency", "protein C deficiency"; "severe hereditary thrombophilia due to congenital protein C deficiency"; "Orphanet:745"; ; rdfs:label "Hereditary thrombophilia due to congenital protein C deficiency", "Severe hereditary thrombophilia due to congenital protein C deficiency"@en; "ORPHA:745" . _:1197bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C."; "Orphanet:745" . _:1197cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3756"; "MONDO:equivalentTo" . _:1197dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28024; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28024 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "Attributed"@en . _:1197ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.2"; "NTBT (narrower term maps to a broader term)"@en . _:1197fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.2"; "ORDO:745/attributed", "ORDO:745/ntbt", "Orphanet:745" . _:11980d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.59"; "DOID:3756" . _:11981d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535424"; "MONDO:equivalentTo", "MONDO:ontobio" . _:11982d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020151"; "DOID:3756", "MONDO:equivalentTo", "MONDO:ontobio" . _:11983d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99025"; "DOID:3756", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612304"; "BTNT (broader term maps to a narrower term)"@en . _:11985d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:76407009"; "DOID:3756", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11986d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0398625"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11987d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2930896"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11988d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein C deficiency"; "NCIT:C99025" . _:11989d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protein C deficiency disease"; "NCIT:C99025" . _:1198ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive thrombophilia due to PC deficiency"; "Orphanet:745" . _:1198bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive thrombophilia due to congenital protein C deficiency"; "Orphanet:745" . _:1198cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary thrombophilia due to PC deficiency"; "Orphanet:745" . _:1198dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary thrombophilia due to congenital protein C deficiency"; rdfs:comment "preferred label from MONDO" . _:1198ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "protein C deficiency"; "MONDO:0002767" . _:1198fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe hereditary thrombophilia due to congenital protein C deficiency"; "Orphanet:745" . _:11990d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:745" . a owl:Class; rdfs:subClassOf ; "Autoimmune PAP"@en, "Idiopathic PAP"@en, "Idiopathic pulmonary alveolar proteinosis"@en, "aPAP"@en, "iPAP"@en; "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)."@en; "orphanet"@en; "ICD-10:J84.0", "OMIM:610910", "UMLS:C1970472"; rdfs:label "Autoimmune pulmonary alveolar proteinosis"@en; "ORPHA:747" . _:11991d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J84.0"; "NTBT (narrower term maps to a broader term)"@en . _:11992d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610910"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1970472"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.", "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized."; , , ; "Idiopathic infection caused by BCG or atypical mycobacteria"@en, "MSMD"@en, "Mendelian susceptibility to atypical mycobacteria"@en, "Mendelian susceptibility to mycobacterial infections"@en; "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized."@en; "orphanet", "orphanet"@en; "GARD:0012977", "ICD-10:D84.8", "ICD10:D84.8", "MONDO:0019146", "UMLS:C3266863", "UMLS:CN181681"; "Idiopathic infection caused by BCG or atypical mycobacteria", "MSMD", "Mendelian susceptibility to atypical mycobacteria", "Mendelian susceptibility to mycobacterial infections", "Mycobacterium caused genetic susceptibility to infections due to particular pathogens", "Mycobacterium genetic susceptibility to infections due to particular pathogens", "idiopathic infection caused by BCG or atypical mycobacteria", "inherited susceptibility to mycobacterial diseases"; "Orphanet:748"; , ; rdfs:label "Mendelian susceptibility to mycobacterial diseases", "Mendelian susceptibility to mycobacterial diseases"@en; "ORPHA:748" . _:11994d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized."; "Orphanet:748" . _:11995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012977"; "MONDO:equivalentTo", "Orphanet-shared" . _:11996d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28050; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28050 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:11997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:11998d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:748/attributed", "ORDO:748/ntbt", "Orphanet:748" . _:11999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3266863"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1199ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3266863"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "Orphanet:748" . _:1199bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN181681"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:1199cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD"; "Orphanet:748" . _:1199dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to atypical mycobacteria"; "Orphanet:748" . _:1199ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial infections"; "Orphanet:748" . _:1199fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mycobacterium caused genetic susceptibility to infections due to particular pathogens"; "MONDO:patterns/specific_infectious_disease_by_agent" . _:119a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "idiopathic infection caused by BCG or atypical mycobacteria"; "Orphanet:748" . _:119a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited susceptibility to mycobacterial diseases"; rdfs:comment "preferred label from MONDO" . _:119a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:748" . a owl:Class; rdfs:subClassOf , , , , , , ; "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production."; ; , , , , , , ; "17-beta-hydroxysteroid dehydrogenase 3 deficiency"@en, "17-ketoreductase deficiency"@en, "17-ketosteroidreductase deficiency"@en; "17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males."@en; "orphanet"@en; "GARD:0005659", "ICD-10:E29.1", "ICD10:E29.1", "MESH:C537805", "MESH:C564868", "MONDO:0009916", "NCIT:C120203", "OMIM:264300", "SCTID:50658006", "UMLS:C0268296"; "17 Beta HSD3 deficiency", "17 beta HSD3 deficiency", "17-beta-hydroxysteroid dehydrogenase 3 deficiency", "17-ketoreductase deficiency", "17-ketosteroidreductase deficiency", "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"; "17 alpha KSR deficiency", "17 alpha ketosteroid reductase deficiency of testis", "17 beta hydroxysteroid dehydrogenase III deficiency", "17-BETA hydroxysteroid dehydrogenase III deficiency", "17-Beta hydroxysteroid dehydrogenase 3 deficiency", "17-KSR deficiency", "17-beta hydroxysteroid dehydrogenase 3 deficiency", "17-ketosteroid reductase deficiency of testis", "Male pseudoherma-phroditism with gynecomastia", "neutral 17 beta hydroxysteroid oxidoreductase deficiency", "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency", "polycystic ovarian disease due to 17-ketosteroid reductase deficiency", "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency", "pseudohermaphroditism, Male, with gynecomastia"; "Orphanet:752"; ; rdfs:label "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"@en; "ORPHA:752" . _:119a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production."; "NCIT:C120203" . _:119a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005659"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:119a5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28066; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28066 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E29.1"; "Attributed"@en . _:119a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E29.1"; "NTBT (narrower term maps to a broader term)"@en . _:119a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E29.1"; "ORDO:752/attributed", "ORDO:752/ntbt", "Orphanet:752" . _:119a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537805"; "MONDO:equivalentTo", "MONDO:ontobio" . _:119a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564868"; "MONDO:equivalentTo", "MONDO:ontobio" . _:119aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120203"; "MONDO:equivalentTo" . _:119abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:119acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264300"; "MONDO:equivalentTo", "ORDO:752/e", "Orphanet:752" . _:119add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:50658006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.32" . _:119aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268296"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:119afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17 Beta HSD3 deficiency"; "NCIT:C120203" . _:119b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17 beta HSD3 deficiency"; "NCIT:C120203" . _:119b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-beta-hydroxysteroid dehydrogenase 3 deficiency"; "Orphanet:752" . _:119b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-ketoreductase deficiency"; "Orphanet:752" . _:119b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-ketosteroidreductase deficiency"; "Orphanet:752" . _:119b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"; rdfs:comment "preferred label from MONDO" . _:119b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"; "Orphanet:752" . _:119b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17 alpha KSR deficiency"; "GARD:0005659" . _:119b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17 alpha ketosteroid reductase deficiency of testis"; "GARD:0005659" . _:119b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17 beta hydroxysteroid dehydrogenase III deficiency"; "GARD:0005659" . _:119b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-BETA hydroxysteroid dehydrogenase III deficiency"; "OMIM:264300" . _:119bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-Beta hydroxysteroid dehydrogenase 3 deficiency"; "OMIM:264300" . _:119bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-KSR deficiency"; "OMIM:264300" . _:119bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-beta hydroxysteroid dehydrogenase 3 deficiency"; "GARD:0005659" . _:119bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-ketosteroid reductase deficiency of testis"; "OMIM:264300" . _:119bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male pseudoherma-phroditism with gynecomastia"; "GARD:0005659" . _:119bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutral 17 beta hydroxysteroid oxidoreductase deficiency"; "GARD:0005659" . _:119c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency"; "OMIM:264300" . _:119c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic ovarian disease due to 17-ketosteroid reductase deficiency"; "OMIM:264300" . _:119c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency"; "OMIM:264300" . _:119c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohermaphroditism, Male, with gynecomastia"; "OMIM:264300" . _:119c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:752" . a owl:Class; rdfs:subClassOf , , , , , ; "46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis."; , ; , , , , , ; "46,XY DSD due to 5-alpha-reductase 2 deficiency"@en, "Pseudovaginal perineoscrotal hypospadias"@en, "Steroid 5-alpha-reductase deficiency"@en; "46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis."@en; "orphanet", "orphanet"@en; "GARD:0005680", "ICD-10:Q56.1", "ICD10:Q56.1", "MESH:C535830", "MONDO:0009923", "MedDRA:10000029", "NCIT:C98699", "OMIM:264600", "SCTID:57514000", "UMLS:C0268297", "UMLS:C3669122"; "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency", "46,XY DSD due to 5-alpha-reductase 2 deficiency", "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency", "5 Alpha steroid reductase 2 deficiency", "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency", "Pseudovaginal perineoscrotal hypospadias", "Steroid 5-alpha-reductase deficiency", "pseudovaginal perineoscrotal hypospadias", "steroid 5-alpha-reductase deficiency"; "5-alpha reductase deficiency", "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency", "PPSH", "familial incomplete Male pseudohermaphroditism, type 2", "micropenis", "pseudovaginal perineoscrotal hypospadias; PPSH"; "Orphanet:753"; ; rdfs:label "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency", "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency"@en; "ORPHA:753" . _:119c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis."; "Orphanet:753" . _:119c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005680"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:119c7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28101; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28101 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "Attributed"@en . _:119c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "NTBT (narrower term maps to a broader term)"@en . _:119c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56.1"; "ORDO:753/attributed", "ORDO:753/ntbt", "Orphanet:753" . _:119cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535830"; "MONDO:equivalentTo", "MONDO:ontobio" . _:119cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000029"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:119ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000029"; "ORDO:753/e", "Orphanet:753" . _:119cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98699"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/26.23" . _:119ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:119cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264600"; "MONDO:equivalentTo", "ORDO:753/e", "Orphanet:753" . _:119d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:57514000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.43" . _:119d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268297"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:119d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3669122"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:119d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency"; "NCIT:C98699" . _:119d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to 5-alpha-reductase 2 deficiency"; "Orphanet:753" . _:119d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency"; rdfs:comment "preferred label from MONDO" . _:119d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "5 Alpha steroid reductase 2 deficiency"; "NCIT:C98699" . _:119d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency"; "Orphanet:753" . _:119d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudovaginal perineoscrotal hypospadias"; "MONDO:Lexical", "OMIM:264600", "Orphanet:753" . _:119d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "steroid 5-alpha-reductase deficiency"; "Orphanet:753" . _:119dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "5-alpha reductase deficiency"; "GARD:0005680" . _:119dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency"; "OMIM:264600" . _:119dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPSH"; "MONDO:Lexical", "OMIM:264600" . _:119ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial incomplete Male pseudohermaphroditism, type 2"; "OMIM:264600" . _:119ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "micropenis"; "OMIM:264600" . _:119dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudovaginal perineoscrotal hypospadias; PPSH"; "OMIM:264600" . _:119e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:753" . a owl:Class; rdfs:subClassOf , , , ; "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21."; , , , , , ; "Primary immunodeficiency due to MCM4 deficiency"@en; "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21."@en; "orphanet"@en; "ICD-10:D84.8", "ICD10:D84.8", "MESH:C566492", "MONDO:0012383", "NCIT:C123729", "OMIM:609981", "SCTID:724275005", "UMLS:C1864947"; "mini-chromosome maintenance 4", "primary immunodeficiency due to MCM4 deficiency", "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"; "IMD54", "NKGCD", "immunodeficiency 54", "immunodeficiency 54; IMD54", "natural KILLER cell and glucocorticoid deficiency with DNA repair defect", "natural KILLER cell and glucocorticoid deficiency with DNA repair defect; NKGCD", "natural Killer cell deficiency, familial isolated"; "Orphanet:75391"; ; rdfs:label "Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency", "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"@en; "ORPHA:75391" . _:119e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21."; "Orphanet:75391" . _:119e2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28129; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28129 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:119e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:119e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:75391/attributed", "ORDO:75391/ntbt", "Orphanet:75391" . _:119e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566492"; "MONDO:equivalentTo", "MONDO:ontobio" . _:119e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123729"; "MONDO:equivalentTo" . _:119e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609981"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:119e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609981"; "MONDO:equivalentTo", "ORDO:75391/e", "Orphanet:75391" . _:119e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:724275005"; "MONDO:equivalentTo" . _:119ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864947"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:609981" . _:119ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mini-chromosome maintenance 4"; "NCIT:C123729" . _:119ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary immunodeficiency due to MCM4 deficiency"; "Orphanet:75391" . _:119edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"; rdfs:comment "preferred label from MONDO" . _:119eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD54"; "OMIM:609981" . _:119efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NKGCD"; "MONDO:Lexical", "OMIM:609981" . _:119f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 54"; "OMIM:609981" . _:119f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 54; IMD54"; "OMIM:609981" . _:119f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "natural KILLER cell and glucocorticoid deficiency with DNA repair defect"; "MONDO:Lexical", "OMIM:609981" . _:119f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "natural KILLER cell and glucocorticoid deficiency with DNA repair defect; NKGCD"; "OMIM:609981" . _:119f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "natural Killer cell deficiency, familial isolated"; "OMIM:609981" . _:119f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:75391" . a owl:Class; rdfs:subClassOf , , , , , ; "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)."; , , , , ; , , , , , , , , ; "AIS"@en, "Androgen resistance syndrome"@en, "Goldberg-Maxwell syndrome"@en, "Morris syndrome"@en, "Testicular feminization syndrome"@en; "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)."@en; "orphanet", "orphanet"@en; "AIS"; "COHD:440359", "DOID:4674", "GARD:0005803", "ICD-10:E34.5", "ICD10:E34.5", "ICD10:E34.50", "ICD10:E34.51", "ICD9:259.5", "ICD9:259.51", "ICD9:259.8", "MESH:D013734", "MONDO:0019154", "MSH:D013734", "MeSH:D013734", "MedDRA:10056292", "NCIT:C27226", "OMIM:300068", "SCTID:12313004", "UMLS:C0039585", "UMLS:C0936016"; "AIS", "Androgen resistance syndrome", "Goldberg - Maxwell syndrome", "Goldberg-Maxwell syndrome", "Morris syndrome", "Testicular feminization syndrome", "androgen insensitivity syndrome", "androgen resistance syndrome", "androgen-insensitivity syndrome", "testicular feminization", "testicular feminization syndrome"; "AR deficiency", "DHTR deficiency", "Feminisation - testicular", "androgen insensitivity syndrome; AIS", "androgen receptor deficiency", "dihydrotestosterone receptor deficiency", "testicular feminization syndrome (formerly)"; "Orphanet:754"; , ; rdfs:label "Androgen insensitivity syndrome", "Androgen insensitivity syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome"^^xsd:anyURI; "ORPHA:754" . _:119f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)."; "Orphanet:754" . _:119f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AIS"; "MONDO:Lexical", "OMIM:300068", "Orphanet:754" . _:119f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:440359"; "MONDO:equivalentTo" . _:119f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4674"; "MONDO:equivalentTo" . _:119fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005803"; "MONDO:equivalentTo" . _:119fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.5"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:119fcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28156; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28156 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.5"; "Specific code (The term has its own code in the ICD10)"@en . _:119fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.5"; "DOID:4674", "ORDO:754/e", "ORDO:754/specific", "Orphanet:754", "Orphanet:99429" . _:119fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.50"; "DOID:4674" . _:119ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.51"; "DOID:4674", "MONDO:superClassOf" . _:11a00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:259.5"; "DOID:4674" . _:11a01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:259.51"; "DOID:4674", "MONDO:equivalentTo", "i2s" . _:11a02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:259.8"; "MONDO:relatedTo", "i2s" . _:11a03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013734"; "DOID:4674", "MONDO:equivalentTo", "ORDO:754/e", "Orphanet:754" . _:11a04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013734"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056292"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10056292"; "ORDO:754/e", "Orphanet:754" . _:11a07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27226"; "DOID:4674", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11a08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300068"; "MONDO:equivalentTo", "Orphanet:99429" . _:11a09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:12313004"; "DOID:4674", "MONDO:equivalentTo" . _:11a0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039585"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039585"; "DOID:4674", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C27226", "OMIM:300068", "ORDO:754/e", "Orphanet:754" . _:11a0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0936016"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Goldberg - Maxwell syndrome"; "DOID:4674" . _:11a0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Goldberg-Maxwell syndrome"; "DOID:4674", "Orphanet:754" . _:11a0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Morris syndrome"; "Orphanet:754" . _:11a10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen insensitivity syndrome"; "MONDO:Lexical", "OMIM:300068" . _:11a11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen insensitivity syndrome"; rdfs:comment "preferred label from MONDO" . _:11a12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen resistance syndrome"; "Orphanet:754" . _:11a13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen-insensitivity syndrome"; "DOID:4674" . _:11a14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "testicular feminization"; "CSP2005:2586-8897", "DOID:4674" . _:11a15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "testicular feminization syndrome"; "DOID:4674", "MTH:NOCODE", "NCIT:C27226", "OMIM:300068", "Orphanet:754" . _:11a16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AR deficiency"; "OMIM:300068" . _:11a17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHTR deficiency"; "OMIM:300068" . _:11a18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Feminisation - testicular"; "DOID:4674" . _:11a19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen insensitivity syndrome; AIS"; "OMIM:300068" . _:11a1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen receptor deficiency"; "OMIM:300068" . _:11a1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dihydrotestosterone receptor deficiency"; "OMIM:300068" . _:11a1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "testicular feminization syndrome (formerly)"; "GARD:0005803" . _:11a1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005803" . _:11a1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:754" . _:11a1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome"^^xsd:anyURI; "GARD:0005803" . a owl:Class; rdfs:subClassOf , , ; "Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up ( 46, XY ), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person."; , , ; "46,XY DSD due to LH resistance or LHB deficiency"@en, "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"@en, "46,XY disorder of sex development due to LH resistance or LHB deficiency"@en, "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"@en; "GARD:0003244", "ICD-10:Q56.1", "ICD10:Q56.1", "MONDO:0019155", "MedDRA:10024406", "OMIM:238320", "UMLS:C0860158"; "46,XY DSD due to LH resistance or LHB deficiency", "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", "46,XY disorder of sex development due to LH resistance or LHB deficiency", "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", "Leydig cell hypoplasia", "Male pseudohermaphroditism due to LH resistance or LHB deficiency", "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"; "46,XY disorder of sex development due to LH defects", "LH resistance due to LH receptor deactivation", "Leydig cell agenesis", "Male hypergonadotropic hypogonadism due to LHCGR defect"; "Orphanet:755"; , ; rdfs:label "Leydig cell hypoplasia", "Leydig cell hypoplasia"@en; "ORPHA:755" . _:11a20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up ( 46, XY ), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person."; "GARD:0003244" . _:11a21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003244"; "MONDO:equivalentTo" . _:11a22d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28195; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28195 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "Attributed"@en . _:11a23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.1"; "NTBT (narrower term maps to a broader term)"@en . _:11a24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q56.1"; "ORDO:755/attributed", "ORDO:755/ntbt", "Orphanet:755" . _:11a25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10024406"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10024406"; "ORDO:755/e", "Orphanet:755" . _:11a27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:238320"; "BTNT (broader term maps to a narrower term)"@en . _:11a28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0860158"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to LH resistance or LHB deficiency"; "Orphanet:755" . _:11a2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"; "Orphanet:755" . _:11a2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to LH resistance or LHB deficiency"; "Orphanet:755" . _:11a2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"; "Orphanet:755" . _:11a2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leydig cell hypoplasia"; rdfs:comment "preferred label from MONDO" . _:11a2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male pseudohermaphroditism due to LH resistance or LHB deficiency"; "Orphanet:755" . _:11a2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"; "GARD:0003244", "Orphanet:755" . _:11a30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to LH defects"; "GARD:0003244" . _:11a31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LH resistance due to LH receptor deactivation"; "GARD:0003244" . _:11a32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leydig cell agenesis"; "GARD:0003244" . _:11a33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male hypergonadotropic hypogonadism due to LHCGR defect"; "GARD:0003244" . _:11a34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:755" . a owl:Class; rdfs:subClassOf , , ; "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration."; , , , , ; "PHA type 1"@en; "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration."@en; "orphanet", "orphanet"@en; "ICD-10:N25.8", "ICD10:N25.8", "ICD9:275.8", "MONDO:0019161", "MSH:D011546", "MeSH:D011546", "NCIT:C123251", "OMIM:177735", "OMIM:264350", "SCTID:43941006", "UMLS:C0268436", "UMLS:C1449843"; "PHA type 1", "PHA1B", "pseudohypoaldosteronism type 1", "pseudohypoaldosteronism type I autosomal recessive"; "Orphanet:756"; ; rdfs:label "Pseudohypoaldosteronism type 1", "Pseudohypoaldosteronism type 1"@en; "ORPHA:756" . _:11a35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration."; "Orphanet:756" . _:11a36d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28216; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28216 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.8"; "Attributed"@en . _:11a37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N25.8"; "NTBT (narrower term maps to a broader term)"@en . _:11a38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N25.8"; "ORDO:756/attributed", "ORDO:756/ntbt", "Orphanet:756" . _:11a39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.8"; "MONDO:relatedTo", "i2s" . _:11a3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011546"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123251"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.78/0.38" . _:11a3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:177735"; "BTNT (broader term maps to a narrower term)"@en . _:11a3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264350"; "BTNT (broader term maps to a narrower term)"@en . _:11a3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:43941006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.37/0.53" . _:11a3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268436"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268436"; "MONDO:equivalentTo", "NCIT:C123251", "ORDO:756/e", "Orphanet:756" . _:11a41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1449843"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHA type 1"; "Orphanet:756" . _:11a43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHA1B"; "NCIT:C123251" . _:11a44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoaldosteronism type 1"; rdfs:comment "preferred label from MONDO" . _:11a45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoaldosteronism type I autosomal recessive"; "NCIT:C123251" . _:11a46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:756" . a owl:Class; rdfs:subClassOf , , ; "Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function."; , , , ; "Chloride shunt syndrome"@en, "Familial hyperkalemic hypertension"@en, "Gordon hyperkalemia-hypertension syndrome"@en, "Hyperkalemia-hypertension syndrome, Gordon type"@en, "Hypertensive hyperkalemia"@en, "Mineralocorticoid resistant hyperkalemia"@en, "PHA2"@en, "PHAII"@en, "Spitzer-Weinstein syndrome"@en; "A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR)."@en; "orphanet", "orphanet"@en; "GARD:0004553", "ICD-10:I15.1", "ICD10:I15.1", "ICD9:588.89", "MONDO:0019162", "NCIT:C123252", "OMIM:145260", "OMIM:614491", "OMIM:614492", "OMIM:614495", "OMIM:614496", "OMIMPS:145260", "SCTID:15689008", "UMLS:C1449844"; "Chloride shunt syndrome", "Familial hyperkalemic hypertension", "Gordon hyperkalemia-hypertension syndrome", "Gordon syndrome", "Hyperkaliemia - hypertension, Gordon type", "Hypertensive hyperkalemia", "Mineralocorticoid resistant hyperkalemia", "PHA2", "PHAII", "Spitzer-Weinstein syndrome", "chloride shunt syndrome", "familial hyperkalemic hypertension", "hyperkalemia-hypertension syndrome, Gordon type", "hypertensive hyperkalemia", "mineralocorticoid resistant hyperkalemia", "pseudohypoaldosteronism type 2", "pseudohypoaldosteronism, type 2", "pseudohypoaldosteronism, type II"; "hyperpotassemia and hypertension familial"; "Orphanet:757"; ; rdfs:label "Pseudohypoaldosteronism type 2", "Pseudohypoaldosteronism type 2"@en; "ORPHA:757" . _:11a47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function."; "Orphanet:757" . _:11a48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004553"; "MONDO:equivalentTo", "Orphanet-shared" . _:11a49d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28236; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28236 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I15.1"; "Attributed"@en . _:11a4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I15.1"; "NTBT (narrower term maps to a broader term)"@en . _:11a4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I15.1"; "ORDO:757/attributed", "ORDO:757/ntbt", "Orphanet:757" . _:11a4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:588.89"; "linkedlife" . _:11a4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123252"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.86/0.20" . _:11a4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145260"; "BTNT (broader term maps to a narrower term)"@en . _:11a4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614491"; "BTNT (broader term maps to a narrower term)"@en . _:11a50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614492"; "BTNT (broader term maps to a narrower term)"@en . _:11a51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614495"; "BTNT (broader term maps to a narrower term)"@en . _:11a52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614496"; "BTNT (broader term maps to a narrower term)"@en . _:11a53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:145260"; "MONDO:cjm", "MONDO:equivalentTo" . _:11a54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15689008"; "MONDO:equivalentTo" . _:11a55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1449844"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1449844"; "MONDO:equivalentTo", "NCIT:C123252", "ORDO:757/e", "Orphanet:757" . _:11a57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gordon hyperkalemia-hypertension syndrome"; "Orphanet:757" . _:11a58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gordon syndrome"; "NCIT:C123252" . _:11a59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHA2"; "Orphanet:757" . _:11a5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHAII"; "Orphanet:757" . _:11a5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spitzer-Weinstein syndrome"; "Orphanet:757" . _:11a5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chloride shunt syndrome"; "Orphanet:757" . _:11a5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hyperkalemic hypertension"; "Orphanet:757" . _:11a5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperkalemia-hypertension syndrome, Gordon type"; "Orphanet:757" . _:11a5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypertensive hyperkalemia"; "Orphanet:757" . _:11a60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mineralocorticoid resistant hyperkalemia"; "Orphanet:757" . _:11a61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoaldosteronism type 2"; rdfs:comment "preferred label from MONDO" . _:11a62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoaldosteronism, type II"; "OMIMPS:145260" . _:11a63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperpotassemia and hypertension familial"; "GARD:0004553" . _:11a64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:757" . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "Pseudoxanthoma elasticum , PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elasticfibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs ( claudication ); or bleeding in the gastrointestinal tract , particularly the stomach. A clinical diagnosis of PXEcan be madewhenan individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders , and by having regular physical examinationswith their primary physician."; , , , , , , ; , , , , , , , , ; "Gronblad-Strandberg-Touraine syndrome"@en, "PXE"@en; "Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls."@en; "orphanet"@en; "DOID:2738", "GARD:0009643", "ICD-10:Q82.8", "ICD10:Q82.8", "ICD9:757.39", "MESH:D011561", "MONDO:0009925", "MSH:D011561", "MeSH:D011561", "MedDRA:10037150", "NCIT:C85036", "OMIM:177850", "OMIM:264800", "SCTID:402782006", "SCTID:72744008", "UMLS:C0033847"; "Gronblad-Strandberg syndrome", "Gronblad-Strandberg-Touraine syndrome", "PXE", "hereditary pseudoxanthoma elasticum (inherited or acquired)", "inherited pseudoxanthoma elasticum"; "Gronblad Strandberg syndrome", "PXE, modifier of severity of", "pseudoxanthoma elasticum", "pseudoxanthoma elasticum, modifier of severity of", "pseudoxanthoma elasticum; PXE"; "Orphanet:758"; , ; rdfs:comment "Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues"; rdfs:label "Pseudoxanthoma elasticum", "Pseudoxanthoma elasticum"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum"^^xsd:anyURI; "ORPHA:758" . _:11a65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudoxanthoma elasticum , PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elasticfibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs ( claudication ); or bleeding in the gastrointestinal tract , particularly the stomach. A clinical diagnosis of PXEcan be madewhenan individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders , and by having regular physical examinationswith their primary physician."; "https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum" . _:11a66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2738"; "MONDO:equivalentTo" . _:11a67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009643"; "MONDO:equivalentTo" . _:11a68d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28268; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28268 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "Index term"@en . _:11a69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:11a6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "ORDO:758/index", "ORDO:758/ntbt", "Orphanet:758" . _:11a6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:11a6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011561"; "DOID:2738", "MONDO:equivalentTo", "ORDO:758/e", "Orphanet:758" . _:11a6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011561"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037150"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037150"; "ORDO:758/e", "Orphanet:758" . _:11a70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85036"; "DOID:2738", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:11a71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:177850"; "BTNT (broader term maps to a narrower term)"@en . _:11a72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:264800"; "DOID:2738", "MONDO:equivalentTo", "ORDO:758/e", "Orphanet:758" . _:11a74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:402782006"; "MONDO:equivalentTo" . _:11a75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:72744008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.08" . _:11a76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033847"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033847"; "DOID:2738", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85036", "OMIM:264800", "ORDO:758/e", "Orphanet:758" . _:11a78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gronblad-Strandberg syndrome"; "DOID:2738", "OMIM:264800" . _:11a79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gronblad-Strandberg-Touraine syndrome"; "Orphanet:758" . _:11a7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXE"; "MONDO:Lexical", "OMIM:264800", "Orphanet:758" . _:11a7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary pseudoxanthoma elasticum (inherited or acquired)"; "MONDO:patterns/hereditary" . _:11a7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited pseudoxanthoma elasticum"; rdfs:comment "preferred label from MONDO" . _:11a7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gronblad Strandberg syndrome"; "GARD:0009643" . _:11a7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXE, modifier of severity of"; "OMIM:264800" . _:11a7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudoxanthoma elasticum"; "MONDO:Lexical", "OMIM:264800" . _:11a80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudoxanthoma elasticum, modifier of severity of"; "OMIM:264800" . _:11a81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudoxanthoma elasticum; PXE"; "OMIM:264800" . _:11a82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0009643" . _:11a83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:758" . _:11a84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum"^^xsd:anyURI; "GARD:0009643" . a owl:Class; rdfs:subClassOf ; "Anaphylactoid purpura"@en, "Henoch-Schönlein purpura"@en, "IgA vasculitis"@en, "Purpura rheumatica"@en, "Rheumatoid purpura"@en; "Schönlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement."@en; "orphanet"@en; "ICD-10:D69.0", "UMLS:C0034152", "UMLS:C0086922"; rdfs:label "Immunoglobulin A vasculitis"@en; "ORPHA:761" . _:11a85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.0"; "NTBT (narrower term maps to a broader term)"@en . _:11a86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0034152"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0086922"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Myositis purulenta tropica"@en, "Myositis tropicans"@en, "PM"@en, "Suppurative myositis"@en, "Tropical pyomyositis"@en; "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation."@en; "orphanet"@en; "ICD-10:M60.0", "MeSH:D052880", "MedDRA:10037652", "UMLS:C0041188", "UMLS:C1704275"; rdfs:label "Pyomyositis"@en; "ORPHA:764" . _:11a88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M60.0"; "NTBT (narrower term maps to a broader term)"@en . _:11a89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D052880"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037652"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0041188"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1704275"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Küssmaul-Maier disease"@en, "PAN"@en, "Periarteritis nodosa"@en; "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney."@en; "orphanet"@en; "ICD-10:M30.0", "MeSH:D010488", "MedDRA:10036024", "UMLS:C0031036"; rdfs:label "Polyarteritis nodosa"@en; "ORPHA:767" . _:11a8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M30.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D010488"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036024"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11a90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031036"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)."; ; , , , , , , , , ; "orphanet"; "DOID:12271", "GARD:0005816", "ICD10:Q13.1", "ICD9:743.45", "MESH:D015783", "MONDO:0019172", "MSH:C538293", "MSH:D015783", "MedDRA:10002532", "NCIT:C84563", "SCTID:69278003", "UMLS:C0003076", "UMLS:C2931795"; "aniridia", "aplasia of iris"; "Orphanet:77"; , ; rdfs:label "Aniridia"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5816/aniridia"^^xsd:anyURI . _:11a91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)."; "Orphanet:77" . _:11a92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12271"; "MONDO:equivalentTo" . _:11a93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005816"; "MONDO:equivalentTo" . _:11a94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q13.1"; "DOID:12271", "ORDO:77/attributed", "ORDO:77/ntbt", "Orphanet:77" . _:11a95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.45"; "DOID:12271", "MONDO:equivalentTo", "i2s" . _:11a96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015783"; "DOID:12271", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:77/e", "Orphanet:77" . _:11a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002532"; "ORDO:77/e", "Orphanet:77" . _:11a98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84563"; "DOID:12271", "MONDO:equivalentTo", "exact-label-match" . _:11a99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:69278003"; "DOID:12271", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.55" . _:11a9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0003076"; "DOID:12271", "MONDO:equivalentTo", "NCIT:C84563", "ORDO:77/e", "Orphanet:77" . _:11a9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aniridia"; rdfs:comment "preferred label from MONDO" . _:11a9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aplasia of iris"; "DOID:12271" . _:11a9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005816" . _:11a9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:77" . _:11a9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5816/aniridia"^^xsd:anyURI; "GARD:0005816" . a owl:Class; rdfs:subClassOf , ; "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.", "Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset."; ; , ; "orphanet"; "ICD10:I89.0", "MONDO:0019175", "NCIT:C48829"; "Troncular lymphatic malformation", "primary lymphedema"; "Orphanet:77240"; ; rdfs:label "Primary lymphedema" . _:11aa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection."; "NCIT:C48829" . _:11aa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I89.0"; "ORDO:77240/attributed", "ORDO:77240/ntbt", "Orphanet:77240" . _:11aa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C48829"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:11aa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Troncular lymphatic malformation"; "Orphanet:77240" . _:11aa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary lymphedema"; "NCIT:C48829" . _:11aa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary lymphedema"; rdfs:comment "preferred label from MONDO" . _:11aa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:77240" . a owl:Class; rdfs:subClassOf , , , , , ; "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders."; ; , , , , , , ; "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders."@en; "orphanet", "orphanet"@en; "DOID:0070111", "GARD:0007206", "ICD-10:E75.2", "ICD10:E75.2", "MESH:D052536", "MONDO:0009756", "MSH:D052536", "MeSH:D052536", "NCIT:C126561", "OMIM:257200", "SCTID:52165006", "UMLS:C0268242"; "Niemann-Pick disease type A"; "Niemann-PICK disease, type A", "Niemann-Pick disease, Intermediate, protracted neurovisceral", "sphingomyelin lipidosis", "sphingomyelinase deficiency"; "Orphanet:77292"; ; rdfs:label "Niemann-Pick disease type A", "Niemann-Pick disease type A"@en; "ORPHA:77292" . _:11aa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders."; "Orphanet:77292" . _:11aa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070111"; "MONDO:equivalentTo" . _:11aa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007206"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11aaad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28335; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28335 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11aabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "NTBT (narrower term maps to a broader term)"@en . _:11aacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.2"; "DOID:0070111", "ORDO:77292/inclusion", "ORDO:77292/ntbt", "Orphanet:77292" . _:11aadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D052536"; "MONDO:equivalentTo", "ORDO:77292/e", "Orphanet:77292" . _:11aaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D052536"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11aafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126561"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/7.21" . _:11ab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:257200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ab1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:257200"; "DOID:0070111", "MONDO:equivalentTo", "ORDO:77292/e", "Orphanet:77292" . _:11ab2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:52165006"; "MONDO:equivalentTo" . _:11ab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268242"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ab4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268242"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C126561", "OMIM:257200", "ORDO:77292/e", "Orphanet:77292" . _:11ab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease type A"; rdfs:comment "preferred label from MONDO" . _:11ab6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-PICK disease, type A"; "OMIM:257200" . _:11ab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease, Intermediate, protracted neurovisceral"; "OMIM:257200" . _:11ab8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingomyelin lipidosis"; "OMIM:257200" . _:11ab9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingomyelinase deficiency"; "OMIM:257200" . _:11abad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:77292" . a owl:Class; rdfs:subClassOf , , , ; "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea"; , ; , , , , , , ; "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea"@en; "orphanet", "orphanet"@en; "DOID:0070112", "GARD:0010729", "ICD-10:E75.2", "ICD10:E75.2", "ICD10:E75.241", "MESH:D052537", "MONDO:0011871", "MSH:D052537", "MeSH:D052537", "NCIT:C126866", "OMIM:607616", "SCTID:39390005", "UMLS:C0268243"; "Niemann-Pick disease type B", "type B Niemann-Pick disease"; "Niemann Pick disease type B", "Niemann-PICK disease, type B", "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression", "Niemann-Pick disease, type E", "Niemann-Pick disease, type F"; "Orphanet:77293"; , ; rdfs:label "Niemann-Pick disease type B", "Niemann-Pick disease type B"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b"^^xsd:anyURI; "ORPHA:77293" . _:11abbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea"; "Orphanet:77293" . _:11abcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070112"; "MONDO:equivalentTo" . _:11abdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010729"; "MONDO:equivalentTo" . _:11abed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28356; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28356 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11abfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E75.2"; "NTBT (narrower term maps to a broader term)"@en . _:11ac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.2"; "DOID:0070112", "ORDO:77293/inclusion", "ORDO:77293/ntbt", "Orphanet:77293" . _:11ac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.241"; "MONDO:equivalentTo" . _:11ac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D052537"; "MONDO:equivalentTo", "ORDO:77293/e", "Orphanet:77293" . _:11ac3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D052537"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126866"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/7.33" . _:11ac5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607616"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ac6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607616"; "DOID:0070112", "MONDO:equivalentTo", "ORDO:77293/e", "Orphanet:77293" . _:11ac7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:39390005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.42/0.22" . _:11ac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268243"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ac9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268243"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C126866", "OMIM:607616", "ORDO:77293/e", "Orphanet:77293" . _:11acad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease type B"; rdfs:comment "preferred label from MONDO" . _:11acbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type B Niemann-Pick disease"; "NCIT:C126866" . _:11accd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann Pick disease type B"; "GARD:0010729" . _:11acdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-PICK disease, type B"; "OMIM:607616" . _:11aced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression"; "OMIM:607616" . _:11acfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease, type E"; "OMIM:607616" . _:11ad0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Niemann-Pick disease, type F"; "OMIM:607616" . _:11ad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010729" . _:11ad2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:77293" . _:11ad3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b"^^xsd:anyURI; "GARD:0010729" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , ; "Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting."; , ; , , , , , , ; "HHT"@en, "Rendu-Osler disease"@en, "Rendu-Osler-Weber disease"@en; "An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations."@en; "orphanet", "orphanet"@en; "COHD:313504", "DOID:1270", "GARD:0006626", "ICD-10:I78.0", "ICD10:I78.0", "ICD9:448.0", "MESH:D013683", "MONDO:0019180", "MedDRA:10019883", "NCIT:C35064", "OMIM:187300", "OMIM:600376", "OMIM:601101", "OMIM:610655", "OMIM:615506", "OMIMPS:187300", "SCTID:21877004", "UMLS:C0039445"; "HHT", "Osler hemorrhagic telangiectasia syndrome", "Osler-Weber-Rendu disease", "Rendu-Osler disease", "Rendu-Osler-Weber disease", "hereditary hemorrhagic telangiectasia", "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler", "telangiectasia, hereditary hemorrhagic"; "Orphanet:774"; ; rdfs:label "Hereditary hemorrhagic telangiectasia", "Hereditary hemorrhagic telangiectasia"@en; "ORPHA:774" . _:11ad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting."; "Orphanet:774" . _:11ad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:313504"; "MONDO:equivalentTo" . _:11ad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1270"; "MONDO:equivalentTo" . _:11ad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006626"; "MONDO:equivalentTo" . _:11ad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I78.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ad9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28384; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28384 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I78.0"; "Specific code (The term has its own code in the ICD10)"@en . _:11adad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:I78.0"; "DOID:1270", "MONDO:equivalentTo", "ORDO:774/e", "ORDO:774/specific", "Orphanet:774" . _:11adbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:448.0"; "DOID:1270", "MONDO:equivalentTo", "i2s" . _:11adcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013683"; "DOID:1270", "MONDO:equivalentTo" . _:11addd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019883"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11aded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019883"; "ORDO:774/e", "Orphanet:774" . _:11adfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35064"; "DOID:1270", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.78/0.31" . _:11ae0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:187300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ae1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600376"; "BTNT (broader term maps to a narrower term)"@en . _:11ae2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601101"; "BTNT (broader term maps to a narrower term)"@en . _:11ae3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610655"; "BTNT (broader term maps to a narrower term)"@en . _:11ae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615506"; "BTNT (broader term maps to a narrower term)"@en . _:11ae5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:187300"; "MONDO:cjm", "MONDO:equivalentTo" . _:11ae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:21877004"; "DOID:1270", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.74/1.62" . _:11ae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039445"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039445"; "DOID:1270", "MONDO:equivalentTo", "NCIT:C35064", "ORDO:774/e", "Orphanet:774" . _:11ae9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHT"; "Orphanet:774" . _:11aead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Osler hemorrhagic telangiectasia syndrome"; "DOID:1270" . _:11aebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Osler-Weber-Rendu disease"; "DOID:1270", "NCIT:C35064" . _:11aecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rendu-Osler disease"; "Orphanet:774" . _:11aedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rendu-Osler-Weber disease"; "DOID:1270", "MTHICD9_2006:448.0", "Orphanet:774" . _:11aeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hemorrhagic telangiectasia"; rdfs:comment "preferred label from MONDO" . _:11aefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler"; "NCIT:C35064" . _:11af0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "telangiectasia, hereditary hemorrhagic"; "OMIMPS:187300" . _:11af1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:774" . a owl:Class; rdfs:subClassOf , , , , ; "Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system."; , , ; , , , , , , , ; "Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system."@en; "orphanet"@en; "DOID:1206", "GARD:0005696", "ICD-10:F84.2", "ICD10:F84.2", "ICD9:330.8", "MESH:D015518", "MONDO:0010726", "MSH:D015518", "MeSH:D015518", "MedDRA:10039000", "NCIT:C75488", "OMIM:312750", "SCTID:68618008", "UMLS:C0035372"; "Rett syndrome", "Rett's disorder", "cerebroatrophic hyperammonemia"; "RTT", "Rett syndrome, Zappella variant", "Rett syndrome, atypical", "Rett syndrome, preserved speech variant", "Rett syndrome; RTT", "Rts", "autism, dementia, ataxia, and loss of purposeful hand use"; "Orphanet:778"; ; rdfs:label "Rett syndrome", "Rett syndrome"@en; "ORPHA:778" . _:11af2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system."; "Orphanet:778" . _:11af3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1206"; "MONDO:equivalentTo" . _:11af4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005696"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11af5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11af6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28414; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28414 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:F84.2"; "Specific code (The term has its own code in the ICD10)"@en . _:11af7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:F84.2"; "DOID:1206", "ORDO:778/e", "ORDO:778/specific", "Orphanet:778" . _:11af8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:330.8"; "MONDO:relatedTo", "i2s" . _:11af9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D015518"; "DOID:1206", "MONDO:equivalentTo", "ORDO:778/e", "Orphanet:778" . _:11afad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015518"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11afbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10039000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11afcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10039000"; "ORDO:778/e", "Orphanet:778" . _:11afdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75488"; "DOID:1206", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.78/0.32" . _:11afed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312750"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11affd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312750"; "DOID:1206", "MONDO:equivalentTo", "ORDO:778/e", "Orphanet:778" . _:11b00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:68618008"; "DOID:1206", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.13" . _:11b01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035372"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035372"; "DOID:1206", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C75488", "OMIM:312750", "ORDO:778/e", "Orphanet:778" . _:11b03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rett syndrome"; "MONDO:Lexical", "OMIM:312750" . _:11b04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rett syndrome"; rdfs:comment "preferred label from MONDO" . _:11b05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rett's disorder"; "DOID:1206" . _:11b06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebroatrophic hyperammonemia"; "CSP2005:4001-0114", "DOID:1206" . _:11b07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RTT"; "MONDO:Lexical", "OMIM:312750" . _:11b08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rett syndrome, Zappella variant"; "OMIM:312750" . _:11b09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rett syndrome, atypical"; "OMIM:312750" . _:11b0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rett syndrome, preserved speech variant"; "OMIM:312750" . _:11b0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rett syndrome; RTT"; "OMIM:312750" . _:11b0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rts"; "OMIM:312750" . _:11b0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autism, dementia, ataxia, and loss of purposeful hand use"; "OMIM:312750" . _:11b0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:778" . a owl:Class; rdfs:subClassOf , , , , ; , ; ; "ICD-10:E66.8", "ICD10:E66.8", "MONDO:0019182", "OMIM:601665"; "genetic obesity", "genetic obesity (disease)", "monogenic obesity"; "Orphanet:77828"; ; rdfs:comment "We place OMIM:601665 here, although this includes"; rdfs:label "Genetic obesity", "Genetic obesity"@en; "ORPHA:77828" . _:11b0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:77828" . _:11b10d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28441; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28441 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E66.8"; "Attributed"@en . _:11b11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E66.8"; "NTBT (narrower term maps to a broader term)"@en . _:11b12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E66.8"; "ORDO:77828/attributed", "ORDO:77828/ntbt", "Orphanet:77828" . _:11b13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601665"; "MONDO:equivalentTo" . _:11b14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic obesity (disease)"; "MONDO:patterns/genetic" . _:11b15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monogenic obesity"; rdfs:comment "preferred label from MONDO" . _:11b16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:77828" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0019183", "UMLS:CN205756"; "inherited odontologic disease"; "Orphanet:77830"; , ; rdfs:label "Rare genetic odontologic disease"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:11b17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205756"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11b18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited odontologic disease"; rdfs:comment "preferred label from MONDO" . _:11b19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:77830" . a owl:Class; rdfs:subClassOf ; "Primary biliary cirrhosis and systemic scleroderma"@en; "Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms)."@en; "orphanet"@en; "ICD-10:K74.3", "ICD-10:L94.0", "OMIM:613471", "UMLS:C0748397"; rdfs:label "Reynolds syndrome"@en; "ORPHA:779" . _:11b1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K74.3"; "ND (not yet decided/unable to decide)"@en . _:11b1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L94.0"; "ND (not yet decided/unable to decide)"@en . _:11b1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613471"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0748397"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies."; ; , , , , , , , , ; ; "Axenfeld syndrome"@en, "Rieger syndrome"@en; "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies."@en; "orphanet", "orphanet"@en; "DOID:14686", "GARD:0005701", "ICD-10:Q13.8", "ICD10:Q13.8", "ICD10:Q13.81", "ICD9:743.44", "MESH:C535679", "MONDO:0019187", "MSH:C535679", "MeSH:C535679", "MedDRA:10059255", "NCIT:C131001", "OMIM:180500", "OMIM:601499", "OMIM:602482", "SCTID:47507006", "UMLS:C0265341", "UMLS:C3495488", "UMLS:CN776842"; "Axenfeld syndrome", "Axenfeld-Rieger syndrome", "Axenfeldt-Rieger syndrome", "RGS - Rieger syndrome", "Rieger syndrome", "Rieger's anomaly", "anomaly, Rieger's"; "Goniodysgenesis hypodontia", "Hagedoom syndrome", "iridogoniodysgenesis with somatic anomalies"; "Orphanet:782"; , ; rdfs:label "Axenfeld-Rieger syndrome", "Axenfeld-Rieger syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome"^^xsd:anyURI; "ORPHA:782" . _:11b1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies."; "Orphanet:782" . _:11b1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:782" . _:11b20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14686"; "MONDO:equivalentTo" . _:11b21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005701"; "MONDO:equivalentTo" . _:11b22d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28460; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28460 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q13.8"; "Attributed"@en . _:11b23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q13.8"; "NTBT (narrower term maps to a broader term)"@en . _:11b24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q13.8"; "ORDO:782/attributed", "ORDO:782/ntbt", "Orphanet:782" . _:11b25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q13.81"; "DOID:14686" . _:11b26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.44"; "MONDO:relatedTo", "i2s" . _:11b27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535679"; "DOID:14686", "MONDO:equivalentTo", "ORDO:782/e", "Orphanet:782" . _:11b28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535679"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059255"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059255"; "ORDO:782/e", "Orphanet:782" . _:11b2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/13.45" . _:11b2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601499"; "BTNT (broader term maps to a narrower term)"@en . _:11b2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602482"; "BTNT (broader term maps to a narrower term)"@en . _:11b2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:47507006"; "DOID:14686", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.76/0.65" . _:11b30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265341"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495488"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495488"; "MONDO:equivalentTo", "NCIT:C131001", "Orphanet:782" . _:11b33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN776842"; "MONDO:equivalentTo" . _:11b34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Axenfeld syndrome"; "DOID:14686", "Orphanet:782" . _:11b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Axenfeld-Rieger syndrome"; rdfs:comment "preferred label from MONDO" . _:11b36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Axenfeldt-Rieger syndrome"; "NCIT:C131001" . _:11b37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RGS - Rieger syndrome"; "DOID:14686" . _:11b38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rieger syndrome"; "Orphanet:782" . _:11b39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rieger's anomaly"; "DOID:14686" . _:11b3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anomaly, Rieger's"; "DOID:14686", "MTHICD9_2006:743.44" . _:11b3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Goniodysgenesis hypodontia"; "GARD:0005701" . _:11b3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hagedoom syndrome"; "DOID:14686" . _:11b3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iridogoniodysgenesis with somatic anomalies"; "GARD:0005701" . _:11b3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005701" . _:11b3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:782" . _:11b40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome"^^xsd:anyURI; "GARD:0005701" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , , , ; "Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics."; ; , , , , , , ; "Broad thumb-hallux syndrome"@en, "Broad thumbs-halluces syndrome"@en; "Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics."@en; "orphanet", "orphanet"@en; "DOID:1933", "GARD:0007593", "ICD-10:Q87.2", "ICD10:Q87.2", "ICD9:759.89", "MESH:D012415", "MONDO:0019188", "MSH:D012415", "MeSH:D012415", "MedDRA:10039281", "NCIT:C75466", "OMIM:180849", "OMIM:610543", "OMIM:613684", "OMIMPS:180849", "SCTID:45582004", "UMLS:C0035934"; "Broad thumb-hallux syndrome", "Broad thumbs-halluces syndrome", "Rubinstein syndrome", "Rubinstein-Taybi syndrome", "proximal chromosome 16p13.3 deletion syndrome"; "RSTS"; "Orphanet:783"; ; rdfs:label "Rubinstein-Taybi syndrome", "Rubinstein-Taybi syndrome"@en; "ORPHA:783" . _:11b41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics."; "Orphanet:783" . _:11b42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1933"; "MONDO:equivalentTo" . _:11b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007593"; "MONDO:equivalentTo", "Orphanet-shared" . _:11b44d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28495; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28495 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11b45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "NTBT (narrower term maps to a broader term)"@en . _:11b46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.2"; "DOID:1933", "ORDO:783/inclusion", "ORDO:783/ntbt", "Orphanet:783" . _:11b47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:11b48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012415"; "DOID:1933", "MONDO:equivalentTo", "ORDO:783/e", "Orphanet:783" . _:11b49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012415"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10039281"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10039281"; "ORDO:783/e", "Orphanet:783" . _:11b4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75466"; "DOID:1933", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:11b4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180849"; "BTNT (broader term maps to a narrower term)"@en . _:11b4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610543"; "BTNT (broader term maps to a narrower term)"@en . _:11b4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613684"; "BTNT (broader term maps to a narrower term)"@en . _:11b50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:180849"; "MONDO:cjm", "MONDO:equivalentTo" . _:11b51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:45582004"; "DOID:1933", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11b52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035934"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035934"; "DOID:1933", "MONDO:equivalentTo", "NCIT:C75466", "ORDO:783/e", "Orphanet:783" . _:11b54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Broad thumb-hallux syndrome"; "DOID:1933", "Orphanet:783" . _:11b55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Broad thumbs-halluces syndrome"; "Orphanet:783" . _:11b56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rubinstein syndrome"; "DOID:1933" . _:11b57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rubinstein-Taybi syndrome"; rdfs:comment "preferred label from MONDO" . _:11b58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "proximal chromosome 16p13.3 deletion syndrome"; "DOID:1933" . _:11b59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RSTS"; "GARD:0007593" . _:11b5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:783" . a owl:Class; rdfs:subClassOf , ; "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.", "Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)."; , , , , , , ; , , , , , , , ; , ; "Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral."@en; "orphanet", "orphanet"@en; "DOID:768", "GARD:0007563", "ICD-10:C69.2", "ICD10:C69.2", "ICDO:9510/3", "MESH:D012175", "MONDO:0008380", "MSH:D012175", "MeSH:D012175", "MedDRA:10038916", "NCIT:C7541", "OMIM:180200", "ONCOTREE:RBL", "SCTID:370967009", "UMLS:C0035335"; "RB", "RB - retinoblastoma", "neuroblastoma of retina", "retinoblastoma", "retinoblastoma, malignant"; "RB1", "Rb", "eye cancer, retinoblastoma", "retinoblastoma; RB1"; "Orphanet:790"; ; rdfs:label "Retinoblastoma", "Retinoblastoma"@en; "ORPHA:790" . _:11b5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma."; "NCIT:C7541" . _:11b5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:790" . _:11b5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:790" . _:11b5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:768"; "MONDO:equivalentTo" . _:11b5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007563"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11b60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C69.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C69.2"; "ORDO:790/e", "ORDO:790/specific", "Orphanet:790" . _:11b62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:9510/3"; "NCIT:C7541" . _:11b63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012175"; "DOID:768", "MONDO:equivalentTo", "ORDO:790/e", "Orphanet:790" . _:11b64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012175"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038916"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038916"; "ORDO:790/e", "Orphanet:790" . _:11b67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C7541"; "DOID:768", "MONDO:equivalentTo" . _:11b68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180200"; "DOID:768", "MONDO:equivalentTo", "ORDO:790/e", "Orphanet:790" . _:11b6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ONCOTREE:RBL"; "MONDO:equivalentTo" . _:11b6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:370967009"; "DOID:768", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:11b6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035335"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035335"; "DOID:768", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C7541", "ORDO:790/e", "Orphanet:790" . _:11b6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RB"; "DOID:768", "NCIT:C7541" . _:11b6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RB - retinoblastoma"; "DOID:768" . _:11b70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuroblastoma of retina"; "DOID:768" . _:11b71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinoblastoma"; "MONDO:Lexical", "OMIM:180200" . _:11b72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinoblastoma"; rdfs:comment "preferred label from MONDO" . _:11b73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinoblastoma, malignant"; "NCIT:C7541" . _:11b74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RB1"; "MONDO:Lexical", "OMIM:180200" . _:11b75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rb"; "OMIM:180200" . _:11b76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eye cancer, retinoblastoma"; "GARD:0007563" . _:11b77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinoblastoma; RB1"; "OMIM:180200" . _:11b78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:790" . a owl:Class; rdfs:subClassOf ; , , ; "ICD9:270.8", "MONDO:0019189", "SCTID:237911005", "UMLS:C0342666"; "disorder of amino acid and organic acid metabolism", "inborn disorder of amino acid and other organic acid metabolism"; "disorder of amino acid and other organic acid metabolism"; "Orphanet:79062"; ; rdfs:label "Disorder of amino acid and other organic acid metabolism", "Disorder of amino acid and other organic acid metabolism"@en; "ORPHA:79062" . _:11b79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.8"; "MONDO:relatedTo", "i2s" . _:11b7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237911005"; "MONDO:equivalentTo" . _:11b7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342666"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:11b7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of amino acid and other organic acid metabolism"; rdfs:comment "preferred label from MONDO" . _:11b7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of amino acid and other organic acid metabolism"; "Orphanet:79062" . _:11b7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79062" . a owl:Class; rdfs:subClassOf , ; "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades."; ; , , , , , , , , ; "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades."@en; "orphanet", "orphanet"@en; "DOID:10584", "GARD:0005694", "ICD-10:H35.5", "ICD10:H35.5", "ICD10:H35.52", "MESH:D012174", "MONDO:0019200", "MSH:D012174", "MeSH:D012174", "MedDRA:10038914", "NCIT:C85045", "OMIM:180100", "OMIM:180104", "OMIM:180105", "OMIM:180210", "OMIM:268000", "OMIM:268025", "OMIM:268060", "OMIM:300029", "OMIM:300155", "OMIM:300424", "OMIM:300605", "OMIM:312600", "OMIM:312612", "OMIM:400004", "OMIM:600059", "OMIM:600105", "OMIM:600132", "OMIM:600138", "OMIM:600852", "OMIM:601414", "OMIM:601718", "OMIM:602594", "OMIM:602772", "OMIM:604232", "OMIM:604393", "OMIM:606068", "OMIM:607476", "OMIM:607921", "OMIM:608133", "OMIM:608380", "OMIM:609913", "OMIM:609923", "OMIM:610282", "OMIM:610359", "OMIM:610599", "OMIM:611131", "OMIM:612095", "OMIM:612165", "OMIM:612572", "OMIM:612712", "OMIM:612943", "OMIM:613194", "OMIM:613341", "OMIM:613428", "OMIM:613464", "OMIM:613575", "OMIM:613581", "OMIM:613582", "OMIM:613617", "OMIM:613660", "OMIM:613731", "OMIM:613750", "OMIM:613756", "OMIM:613758", "OMIM:613767", "OMIM:613769", "OMIM:613794", "OMIM:613801", "OMIM:613809", "OMIM:613810", "OMIM:613827", "OMIM:613861", "OMIM:613862", "OMIM:613983", "OMIM:614180", "OMIM:614181", "OMIM:614494", "OMIM:614500", "OMIM:615233", "OMIM:615434", "OMIM:615565", "OMIM:615725", "OMIM:615780", "OMIM:615922", "OMIM:616188", "OMIM:616394", "OMIM:616469", "OMIM:616544", "OMIM:616562", "OMIM:617023", "OMIM:617123", "OMIM:617304", "OMIM:617433", "OMIM:617460", "OMIM:617781", "OMIM:617871", "OMIM:618173", "OMIM:618195", "OMIM:618220", "OMIMPS:268000", "SCTID:28835009", "UMLS:C0035334", "UMLS:C4072872"; "retinitis pigmentosa"; "pericentral pigmentary retinopathy"; "Rod-cone dystrophy"; "Orphanet:791"; , , ; rdfs:label "Retinitis pigmentosa", "Retinitis pigmentosa"@en; "ORPHA:791" . _:11b7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades."; "Orphanet:791" . _:11b80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:10584"; "MONDO:equivalentTo" . _:11b81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005694"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11b82d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28558; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28558 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11b83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "NTBT (narrower term maps to a broader term)"@en . _:11b84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "MONDO:directSiblingOf", "ORDO:791/inclusion", "ORDO:791/ntbt", "Orphanet:791" . _:11b85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.52"; "DOID:10584" . _:11b86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012174"; "DOID:10584", "MONDO:equivalentTo", "ORDO:791/e", "Orphanet:791" . _:11b87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012174"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038914"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038914"; "ORDO:791/e", "Orphanet:791" . _:11b8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85045"; "DOID:10584", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:11b8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180100"; "BTNT (broader term maps to a narrower term)"@en . _:11b8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180104"; "BTNT (broader term maps to a narrower term)"@en . _:11b8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180105"; "BTNT (broader term maps to a narrower term)"@en . _:11b8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180210"; "BTNT (broader term maps to a narrower term)"@en . _:11b8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:268000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11b90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:268000"; "MONDO:equivalentTo", "ORDO:791/e" . _:11b91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:268025"; "BTNT (broader term maps to a narrower term)"@en . _:11b92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:268060"; "BTNT (broader term maps to a narrower term)"@en . _:11b93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300029"; "BTNT (broader term maps to a narrower term)"@en . _:11b94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300155"; "BTNT (broader term maps to a narrower term)"@en . _:11b95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300424"; "BTNT (broader term maps to a narrower term)"@en . _:11b96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300605"; "BTNT (broader term maps to a narrower term)"@en . _:11b97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312600"; "BTNT (broader term maps to a narrower term)"@en . _:11b98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312612"; "BTNT (broader term maps to a narrower term)"@en . _:11b99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:400004"; "BTNT (broader term maps to a narrower term)"@en . _:11b9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600059"; "BTNT (broader term maps to a narrower term)"@en . _:11b9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600105"; "BTNT (broader term maps to a narrower term)"@en . _:11b9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600132"; "BTNT (broader term maps to a narrower term)"@en . _:11b9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600138"; "BTNT (broader term maps to a narrower term)"@en . _:11b9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600852"; "BTNT (broader term maps to a narrower term)"@en . _:11b9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601414"; "BTNT (broader term maps to a narrower term)"@en . _:11ba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601718"; "BTNT (broader term maps to a narrower term)"@en . _:11ba1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602594"; "BTNT (broader term maps to a narrower term)"@en . _:11ba2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602772"; "BTNT (broader term maps to a narrower term)"@en . _:11ba3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604232"; "NTBT (narrower term maps to a broader term)"@en . _:11ba4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604393"; "NTBT (narrower term maps to a broader term)"@en . _:11ba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606068"; "BTNT (broader term maps to a narrower term)"@en . _:11ba6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607921"; "BTNT (broader term maps to a narrower term)"@en . _:11ba7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608133"; "BTNT (broader term maps to a narrower term)"@en . _:11ba8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608133"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11ba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608380"; "BTNT (broader term maps to a narrower term)"@en . _:11baad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609913"; "BTNT (broader term maps to a narrower term)"@en . _:11babd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609923"; "BTNT (broader term maps to a narrower term)"@en . _:11bacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610282"; "BTNT (broader term maps to a narrower term)"@en . _:11badd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610359"; "BTNT (broader term maps to a narrower term)"@en . _:11baed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610599"; "BTNT (broader term maps to a narrower term)"@en . _:11bafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611131"; "BTNT (broader term maps to a narrower term)"@en . _:11bb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612095"; "BTNT (broader term maps to a narrower term)"@en . _:11bb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612165"; "BTNT (broader term maps to a narrower term)"@en . _:11bb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612572"; "BTNT (broader term maps to a narrower term)"@en . _:11bb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612712"; "NTBT (narrower term maps to a broader term)"@en . _:11bb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612943"; "BTNT (broader term maps to a narrower term)"@en . _:11bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613194"; "BTNT (broader term maps to a narrower term)"@en . _:11bb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613341"; "NTBT (narrower term maps to a broader term)"@en . _:11bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613428"; "BTNT (broader term maps to a narrower term)"@en . _:11bb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613464"; "BTNT (broader term maps to a narrower term)"@en . _:11bb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613575"; "BTNT (broader term maps to a narrower term)"@en . _:11bbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613581"; "BTNT (broader term maps to a narrower term)"@en . _:11bbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613582"; "BTNT (broader term maps to a narrower term)"@en . _:11bbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613617"; "BTNT (broader term maps to a narrower term)"@en . _:11bbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613660"; "NTBT (narrower term maps to a broader term)"@en . _:11bbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613731"; "BTNT (broader term maps to a narrower term)"@en . _:11bbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613750"; "BTNT (broader term maps to a narrower term)"@en . _:11bc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613756"; "BTNT (broader term maps to a narrower term)"@en . _:11bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613758"; "BTNT (broader term maps to a narrower term)"@en . _:11bc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613767"; "BTNT (broader term maps to a narrower term)"@en . _:11bc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613769"; "BTNT (broader term maps to a narrower term)"@en . _:11bc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613794"; "BTNT (broader term maps to a narrower term)"@en . _:11bc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613801"; "BTNT (broader term maps to a narrower term)"@en . _:11bc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613809"; "BTNT (broader term maps to a narrower term)"@en . _:11bc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613810"; "BTNT (broader term maps to a narrower term)"@en . _:11bc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613827"; "BTNT (broader term maps to a narrower term)"@en . _:11bc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613861"; "BTNT (broader term maps to a narrower term)"@en . _:11bcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613862"; "BTNT (broader term maps to a narrower term)"@en . _:11bcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613983"; "BTNT (broader term maps to a narrower term)"@en . _:11bccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614180"; "BTNT (broader term maps to a narrower term)"@en . _:11bcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614181"; "BTNT (broader term maps to a narrower term)"@en . _:11bced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614494"; "BTNT (broader term maps to a narrower term)"@en . _:11bcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614500"; "NTBT (narrower term maps to a broader term)"@en . _:11bd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615233"; "BTNT (broader term maps to a narrower term)"@en . _:11bd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615434"; "BTNT (broader term maps to a narrower term)"@en . _:11bd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615565"; "BTNT (broader term maps to a narrower term)"@en . _:11bd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615725"; "BTNT (broader term maps to a narrower term)"@en . _:11bd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615780"; "BTNT (broader term maps to a narrower term)"@en . _:11bd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615922"; "BTNT (broader term maps to a narrower term)"@en . _:11bd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615922"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11bd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616188"; "ND (not yet decided/unable to decide)"@en . _:11bd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616188"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11bd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616394"; "BTNT (broader term maps to a narrower term)"@en . _:11bdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616394"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11bdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616469"; "BTNT (broader term maps to a narrower term)"@en . _:11bdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616469"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11bddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616544"; "BTNT (broader term maps to a narrower term)"@en . _:11bded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616544"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11bdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616562"; "BTNT (broader term maps to a narrower term)"@en . _:11be0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616562"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11be1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617023"; "BTNT (broader term maps to a narrower term)"@en . _:11be2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617023"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11be3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617123"; "BTNT (broader term maps to a narrower term)"@en . _:11be4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617123"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11be5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617304"; "BTNT (broader term maps to a narrower term)"@en . _:11be6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617433"; "BTNT (broader term maps to a narrower term)"@en . _:11be7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617433"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11be8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617460"; "BTNT (broader term maps to a narrower term)"@en . _:11be9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617460"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11bead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617781"; "BTNT (broader term maps to a narrower term)"@en . _:11bebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618173"; "BTNT (broader term maps to a narrower term)"@en . _:11becd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618195"; "BTNT (broader term maps to a narrower term)"@en . _:11bedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618220"; "BTNT (broader term maps to a narrower term)"@en . _:11beed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:268000"; "MONDO:cjm", "MONDO:equivalentTo" . _:11befd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:28835009"; "DOID:10584", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11bf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035334"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11bf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035334"; "DOID:10584", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85045", "ORDO:791/e", "Orphanet:791" . _:11bf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4072872"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:11bf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinitis pigmentosa"; rdfs:comment "preferred label from MONDO" . _:11bf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pericentral pigmentary retinopathy"; "DOID:10584" . _:11bf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rod-cone dystrophy"; "GARD:0005694" . _:11bf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:791" . a owl:Class; rdfs:subClassOf ; "Acute interstitial pneumonitis"@en, "Hamman-Rich syndrome"@en; "Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia (see this term)."@en; "orphanet"@en; "ICD-10:J84.1", "MedDRA:10066728", "OMIM:178500", "UMLS:C0085786", "UMLS:C1279945"; rdfs:label "Acute interstitial pneumonia"@en; "ORPHA:79126" . _:11bf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J84.1"; "NTBT (narrower term maps to a broader term)"@en . _:11bf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066728"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11bf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:178500"; "NTBT (narrower term maps to a broader term)"@en . _:11bfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085786"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11bfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1279945"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes."; , , , , ; "Developmental delay-epilepsy-neonatal diabetes syndrome"@en; "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes."@en; "orphanet", "orphanet"@en; "ICD-10:P70.2", "ICD10:P70.2", "MONDO:0019207", "NCIT:C131845", "OMIM:606176", "SCTID:721088003", "UMLS:C1853564", "UMLS:C4303593"; "DEND syndrome", "Developmental delay-epilepsy-neonatal diabetes syndrome", "K ATP associated developmental delay, epilepsy and neonatal diabetes", "developmental delay-epilepsy-neonatal diabetes syndrome"; "Orphanet:79134"; ; rdfs:label "DEND syndrome", "DEND syndrome"@en; "ORPHA:79134" . _:11bfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes."; "Orphanet:79134" . _:11bfdd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28682; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:P70.2"; "Attributed"@en . _:11bfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:P70.2"; "NTBT (narrower term maps to a broader term)"@en . _:11bffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:P70.2"; "MONDO:subClassOf", "ORDO:79134/attributed", "ORDO:79134/ntbt", "Orphanet:79134" . _:11c00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131845"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:11c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606176"; "NTBT (narrower term maps to a broader term)"@en . _:11c02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:721088003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:11c03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853564"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11c04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853564"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "Orphanet:79134" . _:11c05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4303593"; "MEDGEN:kboom-pr94-c94", "MONDO:equivalentTo" . _:11c06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEND syndrome"; rdfs:comment "preferred label from MONDO" . _:11c07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "K ATP associated developmental delay, epilepsy and neonatal diabetes"; "NCIT:C131845" . _:11c08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "developmental delay-epilepsy-neonatal diabetes syndrome"; "Orphanet:79134" . _:11c09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79134" . a owl:Class; rdfs:subClassOf ; "MCC"@en, "Merkel cell carcinoma"@en; "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC))."@en; "orphanet"@en; "ICD-10:C44.3", "ICD-10:C44.6", "ICD-10:C44.7", "UMLS:C0007129"; rdfs:label "Cutaneous neuroendocrine carcinoma"@en; "ORPHA:79140" . _:11c0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C44.3"; "BTNT (broader term maps to a narrower term)"@en . _:11c0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C44.6"; "BTNT (broader term maps to a narrower term)"@en . _:11c0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C44.7"; "BTNT (broader term maps to a narrower term)"@en . _:11c0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0007129"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "A inherited organic acidemia that involves the brain."; ; "MONDO:0019213"; "brain inherited organic acidemia", "cerebral organic aciduria", "inherited organic acidemia of brain"; "Orphanet:79158"; ; rdfs:label "Cerebral organic aciduria" . _:11c0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A inherited organic acidemia that involves the brain."; "MONDO:patterns/location" . _:11c0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brain inherited organic acidemia"; "MONDO:design_pattern", "MONDO:patterns/location" . _:11c10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral organic aciduria"; rdfs:comment "preferred label from MONDO" . _:11c11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited organic acidemia of brain"; "MONDO:design_pattern" . _:11c12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79158" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process."; , ; , , , , , ; "DOID:2978", "EFO:1000061", "ICD9:271.8", "MESH:D002239", "MONDO:0019214", "MedDRA:10061023", "NCIT:C97089", "UMLS:C0149670"; "carbohydrate metabolism disorder", "disorder of carbohydrate transport and metabolism", "inborn carbohydrate metabolic disorder", "inborn carbohydrate metabolic process disorder", "inborn carbohydrate metabolism disorder", "inborn error of carbohydrate metabolic process", "inborn errors of carbohydrate metabolism", "rare inborn error of carbohydrate metabolic process"; "carbohydrate metabolic disorder", "disorder of carbohydrate metabolism", "rare inborn error of carbohydrate metabolic process"; "Orphanet:79161"; ; rdfs:label "Disorder of carbohydrate metabolism", "Disorder of carbohydrate metabolism"@en; "ORPHA:79161" . _:11c13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process."; "MONDO:patterns/inborn_metabolic" . _:11c14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2978"; "MONDO:equivalentTo" . _:11c15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1000061"; "MONDO:equivalentTo" . _:11c16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.8"; "DOID:2978" . _:11c17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D002239"; "DOID:2978", "MONDO:equivalentTo", "MONDO:ontobio" . _:11c18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061023"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11c19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061023"; "ORDO:79161/e", "Orphanet:79161" . _:11c1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C97089"; "MONDO:equivalentTo" . _:11c1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0149670"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11c1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carbohydrate metabolism disorder"; "NCIT:C97089" . _:11c1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of carbohydrate transport and metabolism"; "DOID:2978" . _:11c1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn carbohydrate metabolic disorder"; rdfs:comment "preferred label from MONDO" . _:11c1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn carbohydrate metabolism disorder"; "CSP2005:0551-8201", "DOID:2978" . _:11c20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of carbohydrate metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn errors of carbohydrate metabolism"; "DOID:2978" . _:11c22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of carbohydrate metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carbohydrate metabolic disorder"; "DOID:2978" . _:11c24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of carbohydrate metabolism"; "Orphanet:79161" . _:11c25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of carbohydrate metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79161" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019215"; "classic organic aciduria"; "Orphanet:79163"; ; rdfs:label "Classic organic aciduria" . _:11c27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic organic aciduria"; rdfs:comment "preferred label from MONDO" . _:11c28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79163" . a owl:Class; rdfs:subClassOf ; , , ; "ICD-10:E72.0", "ICD10:E72.0", "ICD9:270.0", "MONDO:0019216", "SCTID:16784003", "UMLS:C0268641"; "inborn disorder of amino acid absorption and transport"; "disorder of amino acid absorption and transport", "disorder of amino acid transport"; "Orphanet:79166"; ; rdfs:comment "Editor note: consider changing to transport"; rdfs:label "Disorder of amino acid absorption and transport", "Disorder of amino acid absorption and transport"@en; "ORPHA:79166" . _:11c29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11c2ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28728; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28728 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.0"; "Specific code (The term has its own code in the ICD10)"@en . _:11c2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.0"; "ORDO:79166/e", "ORDO:79166/specific", "Orphanet:79166" . _:11c2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.0"; "MONDO:equivalentTo", "i2s" . _:11c2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:16784003"; "MONDO:equivalentTo" . _:11c2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268641"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11c2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268641"; "MONDO:equivalentTo", "ORDO:79166/e", "Orphanet:79166" . _:11c30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of amino acid absorption and transport"; rdfs:comment "preferred label from MONDO" . _:11c31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of amino acid absorption and transport"; "Orphanet:79166" . _:11c32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79166" . a owl:Class; rdfs:subClassOf ; ; "GARD:0007837", "ICD-10:E72.2", "ICD10:E72.2", "MONDO:0019217"; "inborn disorder of urea cycle metabolism and ammonia detoxification"; "UCD", "disorder of urea cycle metabolism and ammonia detoxification", "urea cycle disorders"; "Orphanet:79167"; ; rdfs:label "Disorder of urea cycle metabolism and ammonia detoxification", "Disorder of urea cycle metabolism and ammonia detoxification"@en; "ORPHA:79167" . _:11c33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007837"; "MONDO:equivalentTo", "Orphanet-shared" . _:11c34d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28739; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28739 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "Attributed"@en . _:11c35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "NTBT (narrower term maps to a broader term)"@en . _:11c36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.2"; "ORDO:79167/attributed", "ORDO:79167/ntbt", "Orphanet:79167" . _:11c37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of urea cycle metabolism and ammonia detoxification"; rdfs:comment "preferred label from MONDO" . _:11c38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCD"; "GARD:0007837" . _:11c39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of urea cycle metabolism and ammonia detoxification"; "Orphanet:79167" . _:11c3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urea cycle disorders"; "GARD:0007837" . _:11c3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79167" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0019219", "UMLS:CN227586"; "inborn disorder of neurotransmitter metabolism and transport"; "disorder of neurotransmitter metabolism and transport"; "Orphanet:79169"; ; rdfs:label "Disorder of neurotransmitter metabolism and transport", "Disorder of neurotransmitter metabolism and transport"@en; "ORPHA:79169" . _:11c3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227586"; "MONDO:equivalentTo" . _:11c3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of neurotransmitter metabolism and transport"; rdfs:comment "preferred label from MONDO" . _:11c3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of neurotransmitter metabolism and transport"; "Orphanet:79169" . _:11c3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79169" . a owl:Class; rdfs:subClassOf , ; , , ; "MONDO:0019220", "UMLS:CN043592", "UMLS:CN227587"; "inborn disorder of cobalamin metabolism and transport"; "disorder of cobalamin metabolism and transport"; "Orphanet:79171"; ; rdfs:label "Disorder of cobalamin metabolism and transport" . _:11c40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN043592"; "MONDO:equivalentTo" . _:11c41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227587"; "MONDO:equivalentTo" . _:11c42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of cobalamin metabolism and transport"; rdfs:comment "preferred label from MONDO" . _:11c43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of cobalamin metabolism and transport"; "Orphanet:79171" . _:11c44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79171" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process."; , , ; "ICD10:E72.1", "ICD9:270.4", "MONDO:0019222", "SCTID:28882002", "UMLS:CN227589"; "Cytosolic methyl group transfer or sulfur amino acid metabolism disorder", "cytosolic methyl group transfer or sulfur amino acid metabolism disorder", "inborn disorder of methionine cycle and sulfur amino acid metabolism", "inborn error of sulfur amino acid metabolic process", "inborn sulfur amino acid metabolic process disorder", "rare inborn error of sulfur amino acid metabolic process"; "disorder of methionine cycle and sulfur amino acid metabolism", "rare inborn error of sulfur amino acid metabolic process"; "Orphanet:79173"; ; rdfs:comment "Editor note: check this"; rdfs:label "Disorder of methionine cycle and sulfur amino acid metabolism" . _:11c45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process."; "MONDO:patterns/inborn_metabolic" . _:11c46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:79173/attributed", "ORDO:79173/ntbt", "Orphanet:79173" . _:11c47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.4"; "i2s" . _:11c48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:28882002"; "MONDO:equivalentTo" . _:11c49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227589"; "MONDO:equivalentTo" . _:11c4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cytosolic methyl group transfer or sulfur amino acid metabolism disorder"; "Orphanet:79173" . _:11c4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of methionine cycle and sulfur amino acid metabolism"; rdfs:comment "preferred label from MONDO" . _:11c4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of sulfur amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of sulfur amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of methionine cycle and sulfur amino acid metabolism"; "Orphanet:79173" . _:11c4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of sulfur amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79173" . a owl:Class; rdfs:subClassOf ; , ; "ICD-10:E71.3", "ICD10:E71.3", "MONDO:0019223", "UMLS:CN227590"; "inborn disorder of fatty acid oxidation and ketone body metabolism"; "disorder of fatty acid oxidation and ketone body metabolism"; "Orphanet:79174"; ; rdfs:label "Disorder of fatty acid oxidation and ketone body metabolism", "Disorder of fatty acid oxidation and ketone body metabolism"@en; "ORPHA:79174" . _:11c51d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28769; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28769 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "Attributed"@en . _:11c52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E71.3"; "NTBT (narrower term maps to a broader term)"@en . _:11c53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:79174/attributed", "ORDO:79174/ntbt", "Orphanet:79174" . _:11c54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227590"; "MONDO:equivalentTo" . _:11c55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of fatty acid oxidation and ketone body metabolism"; rdfs:comment "preferred label from MONDO" . _:11c56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of fatty acid oxidation and ketone body metabolism"; "Orphanet:79174" . _:11c57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79174" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process."; , ; "Disorder of GABA metabolism"@en; "ICD-10:E72.8", "ICD10:E72.8", "MONDO:0019224", "UMLS:CN227591"; "Disorder of GABA metabolism", "disorder of GABA metabolism", "inborn disorder of gamma-aminobutyric acid metabolism", "inborn error of gamma-aminobutyric acid metabolic process", "inborn gamma-aminobutyric acid metabolic process disorder", "rare inborn error of gamma-aminobutyric acid metabolic process"; "disorder of gamma-aminobutyric acid metabolism", "rare inborn error of gamma-aminobutyric acid metabolic process"; "Orphanet:79175"; ; rdfs:label "Disorder of gamma-aminobutyric acid metabolism", "Disorder of gamma-aminobutyric acid metabolism"@en; "ORPHA:79175" . _:11c58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process."; "MONDO:patterns/inborn_metabolic" . _:11c59d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28778; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28778 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "Attributed"@en . _:11c5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "NTBT (narrower term maps to a broader term)"@en . _:11c5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.8"; "ORDO:79175/attributed", "ORDO:79175/ntbt", "Orphanet:79175" . _:11c5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227591"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:11c5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of GABA metabolism"; "Orphanet:79175" . _:11c5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of gamma-aminobutyric acid metabolism"; rdfs:comment "preferred label from MONDO" . _:11c5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of gamma-aminobutyric acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of gamma-aminobutyric acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of gamma-aminobutyric acid metabolism"; "Orphanet:79175" . _:11c62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of gamma-aminobutyric acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79175" . a owl:Class; rdfs:subClassOf ; "An acquired metabolic disease that is has its basis in the disruption of glucose transport."; , ; "ICD10:E74.8", "MONDO:0019226", "UMLS:CN227593"; "glucose transport disorder", "inborn error of glucose transport"; "rare inborn error of glucose transport"; "Orphanet:79178"; ; rdfs:label "Glucose transport disorder" . _:11c64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of glucose transport."; "MONDO:patterns/inborn_metabolic" . _:11c65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.8"; "ORDO:79178/attributed", "ORDO:79178/ntbt", "Orphanet:79178" . _:11c66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227593"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11c67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucose transport disorder"; rdfs:comment "preferred label from MONDO" . _:11c68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of glucose transport"; "MONDO:patterns/inborn_metabolic" . _:11c69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of glucose transport"; "MONDO:patterns/inborn_metabolic" . _:11c6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79178" . a owl:Class; rdfs:subClassOf ; , ; "GARD:0012470", "ICD10:E71.3", "MONDO:0019233", "UMLS:CN227598"; "peroxisomal beta-oxidation disorder"; "Orphanet:79188"; , ; rdfs:label "Peroxisomal beta-oxidation disorder"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder"^^xsd:anyURI . _:11c6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012470"; "MONDO:equivalentTo" . _:11c6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E71.3"; "ORDO:79188/attributed", "ORDO:79188/ntbt", "Orphanet:79188" . _:11c6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227598"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11c6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisomal beta-oxidation disorder"; rdfs:comment "preferred label from MONDO" . _:11c6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012470" . _:11c70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79188" . _:11c71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder"^^xsd:anyURI; "GARD:0012470" . a owl:Class; rdfs:subClassOf , , , , , , ; "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)."; , , , , , ; "orphanet"; "GARD:0009473", "GARD:0011890", "MESH:C531857", "MESH:C536664", "MONDO:0019234", "MSH:C536664", "NCIT:C146639", "OMIMPS:214100", "SCTID:742876007", "UMLS:C1832200"; "PBD, ZSS", "PBD-ZSD", "PBD-ZSS", "PBD-Zellweger spectrum disorder", "ZSD", "Zellweger spectrum", "Zellweger spectrum disorder", "Zellweger syndrome spectrum", "peroxisome biogenesis disorder", "peroxisome biogenesis disorder spectrum", "peroxisome biogenesis disorders, Zellweger syndrome spectrum"; "cerebrohepatorenal syndrome"; "PBD-ZSS", "PBD-Zellweger spectrum disorder", "Zellweger spectrum disorders", "disorders of peroxisome biogenesis", "peroxisomal biogenesis disorders", "peroxisomal biogenesis disorders, Zellweger syndrome spectrum", "peroxisome biogenesis disorder-Zellweger syndrome spectrum"; "Orphanet:79189"; ; rdfs:label "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" . _:11c72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)."; "Orphanet:79189" . _:11c73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009473"; "MONDO:equivalentTo", "shared-umls-xref" . _:11c74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0011890"; "MONDO:equivalentTo", "Orphanet-shared" . _:11c75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C531857"; "MONDO:equivalentTo" . _:11c76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536664"; "MONDO:equivalentTo", "ORDO:79189/e", "Orphanet:79189" . _:11c77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C146639"; "MONDO:equivalentTo", "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24" . _:11c78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:214100"; "MONDO:cjm", "MONDO:equivalentTo" . _:11c79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:742876007"; "MONDO:equivalentTo" . _:11c7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PBD, ZSS"; "MONDO:cjm", "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder" . _:11c7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PBD-ZSD"; "MONDO:cjm", "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder" . _:11c7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ZSD"; "MONDO:cjm", "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder" . _:11c7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zellweger spectrum"; "MONDO:cjm", "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder" . _:11c7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zellweger spectrum disorder"; "MONDO:cjm", "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder" . _:11c7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zellweger syndrome spectrum"; "MONDO:cjm", "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder" . _:11c80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisome biogenesis disorder"; rdfs:comment "preferred label from MONDO" . _:11c81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisome biogenesis disorder spectrum"; "Orphanet:79189" . _:11c82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisome biogenesis disorders, Zellweger syndrome spectrum"; "MONDO:cjm", "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder" . _:11c83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebrohepatorenal syndrome"; "MONDO:cjm", "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder" . _:11c84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PBD-ZSS"; "GARD:0011890" . _:11c85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PBD-Zellweger spectrum disorder"; "GARD:0011890" . _:11c86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Zellweger spectrum disorders"; "GARD:0011890" . _:11c87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorders of peroxisome biogenesis"; "GARD:0009473" . _:11c88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisomal biogenesis disorders"; "GARD:0009473" . _:11c89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisomal biogenesis disorders, Zellweger syndrome spectrum"; "GARD:0011890" . _:11c8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peroxisome biogenesis disorder-Zellweger syndrome spectrum"; "GARD:0011890" . _:11c8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79189" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0019235", "UMLS:CN227599"; "inborn disorder of phenylalanin or tyrosine metabolism"; "disorder of phenylalanin or tyrosine metabolism"; "Orphanet:79190"; ; rdfs:label "Disorder of phenylalanin or tyrosine metabolism" . _:11c8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227599"; "MONDO:equivalentTo" . _:11c8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of phenylalanin or tyrosine metabolism"; rdfs:comment "preferred label from MONDO" . _:11c8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of phenylalanin or tyrosine metabolism"; "Orphanet:79190" . _:11c8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79190" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process."; , , ; "MONDO:0019236", "MedDRA:10061476", "UMLS:C0268104"; "inborn disorder of purine metabolism", "inborn error of purine nucleobase metabolic process", "inborn purine nucleobase metabolic process disorder", "rare inborn error of purine nucleobase metabolic process"; "disorder of purine metabolism", "rare inborn error of purine nucleobase metabolic process"; "Orphanet:79191"; ; rdfs:label "Disorder of purine metabolism" . _:11c90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process."; "MONDO:patterns/inborn_metabolic" . _:11c91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061476"; "ORDO:79191/e", "Orphanet:79191" . _:11c92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of purine metabolism"; rdfs:comment "preferred label from MONDO" . _:11c93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of purine nucleobase metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of purine nucleobase metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of purine metabolism"; "Orphanet:79191" . _:11c96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of purine nucleobase metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79191" . a owl:Class; rdfs:subClassOf ; "An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process."; , ; "MONDO:0019239", "UMLS:CN227601"; "inborn disorder of serine family metabolism", "inborn disorder of serine or glycine metabolism", "inborn error of serine family amino acid metabolic process", "inborn serine family amino acid metabolic process disorder", "rare inborn error of serine family amino acid metabolic process"; "disorder of serine or glycine metabolism", "rare inborn error of serine family amino acid metabolic process"; "Orphanet:79194"; ; rdfs:label "Disorder of serine or glycine metabolism", "Disorder of serine or glycine metabolism"@en; "ORPHA:79194" . _:11c98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process."; "MONDO:patterns/inborn_metabolic" . _:11c99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227601"; "MONDO:equivalentTo" . _:11c9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of serine family metabolism"; rdfs:comment "preferred label from MONDO" . _:11c9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of serine or glycine metabolism"; "Orphanet:79194" . _:11c9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of serine family amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of serine family amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11c9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of serine or glycine metabolism"; "Orphanet:79194" . _:11c9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of serine family amino acid metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11ca0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79194" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process."; , ; "MONDO:0019240", "UMLS:CN227602"; "inborn error of sterol biosynthetic process", "inborn sterol biosynthetic process disorder", "rare inborn error of sterol biosynthetic process", "sterol biosynthesis disorder"; "rare inborn error of sterol biosynthetic process"; "Orphanet:79195"; ; rdfs:label "Sterol biosynthesis disorder" . _:11ca1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process."; "MONDO:patterns/inborn_metabolic" . _:11ca2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227602"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11ca3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of sterol biosynthetic process"; "MONDO:patterns/inborn_metabolic" . _:11ca4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of sterol biosynthetic process"; "MONDO:patterns/inborn_metabolic" . _:11ca5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sterol biosynthesis disorder"; rdfs:comment "preferred label from MONDO" . _:11ca6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of sterol biosynthetic process"; "MONDO:patterns/inborn_metabolic" . _:11ca7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79195" . a owl:Class; rdfs:subClassOf ; "An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy."; , ; "MONDO:0019243", "UMLS:CN227604"; "inborn disorder of energy metabolism", "inborn error of generation of precursor metabolites and energy", "inborn generation of precursor metabolites and energy disorder", "rare inborn error of generation of precursor metabolites and energy"; "disorder of energy metabolism", "rare inborn error of generation of precursor metabolites and energy"; "Orphanet:79200"; ; rdfs:label "Disorder of energy metabolism", "Disorder of energy metabolism"@en; "ORPHA:79200" . _:11ca8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy."; "MONDO:patterns/inborn_metabolic" . _:11ca9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227604"; "MONDO:equivalentTo" . _:11caad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of energy metabolism"; rdfs:comment "preferred label from MONDO" . _:11cabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of generation of precursor metabolites and energy"; "MONDO:patterns/inborn_metabolic" . _:11cacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of generation of precursor metabolites and energy"; "MONDO:patterns/inborn_metabolic" . _:11cadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of energy metabolism"; "Orphanet:79200" . _:11caed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of generation of precursor metabolites and energy"; "MONDO:patterns/inborn_metabolic" . _:11cafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79200" . a owl:Class; rdfs:subClassOf , ; "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues."; , , ; , , , , , , , ; ; "GSD"@en, "Glycogenosis"@en; "COHD:434003", "DOID:0050728", "DOID:2747", "ICD-10:E74.0", "ICD10:E74.0", "ICD10:E74.00", "ICD9:271.0", "MESH:D006008", "MONDO:0002412", "MSH:D006008", "MeSH:D006008", "MedDRA:10061990", "NCIT:C61272", "SCTID:29633007", "UMLS:C0017919"; "GSD", "Glycogenosis", "glycogen metabolism disorder", "glycogen storage disease", "glycogen storage disorder", "glycogenoses", "glycogenosis", "inborn error of glycogen metabolic process", "inborn glycogen metabolic process disorder", "inborn glycogen storage disorder", "rare inborn error of glycogen metabolic process"; "rare inborn error of glycogen metabolic process"; "Orphanet:79201"; ; rdfs:label "Glycogen storage disease", "Glycogen storage disease"@en; "ORPHA:79201" . _:11cb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues."; "NCIT:C61272" . _:11cb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:2747" . _:11cb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:434003"; "MONDO:equivalentTo" . _:11cb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050728"; "MONDO:equivalentTo" . _:11cb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2747"; "MONDO:equivalentTo" . _:11cb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11cb6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28872; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Specific code (The term has its own code in the ICD10)"@en . _:11cb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "DOID:2747", "MONDO:equivalentTo", "ORDO:79201/e", "ORDO:79201/specific", "Orphanet:79201" . _:11cb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.00"; "DOID:2747" . _:11cb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:271.0"; "DOID:2747", "MONDO:equivalentTo", "i2s" . _:11cbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006008"; "DOID:2747", "MONDO:equivalentTo", "ORDO:79201/e", "Orphanet:79201" . _:11cbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006008"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11cbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061990"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11cbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061990"; "ORDO:79201/e", "Orphanet:79201" . _:11cbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61272"; "DOID:2747", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:11cbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:29633007"; "DOID:2747", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11cc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017919"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11cc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017919"; "DOID:2747", "MONDO:equivalentTo", "NCIT:C61272", "ORDO:79201/e", "Orphanet:79201" . _:11cc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD"; "Orphanet:79201" . _:11cc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen metabolism disorder"; "DOID:0050728", "DOID:2747" . _:11cc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease"; "MONDO:0019244" . _:11cc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease"; rdfs:comment "preferred label from MONDO" . _:11cc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenoses"; "DOID:2747", "https://en.wikipedia.org/wiki/Glycogen_storage_disease" . _:11cc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis"; "CSP2005:4000-0193", "DOID:2747", "Orphanet:79201" . _:11cc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of glycogen metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11cc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of glycogen metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11ccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of glycogen metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11ccbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79201" . a owl:Class; rdfs:subClassOf , ; "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes."; , , , , , , , , , ; , , , , ; ; "DOID:9455", "ICD10:E75.5", "ICD10:E75.6", "ICD9:272.7", "ICD9:272.8", "MESH:D008064", "MONDO:0019245", "SCTID:10741005", "UMLS:CN205834"; "inborn error of lipid storage", "inborn lipid storage disorder", "lipid storage disease", "lipoid storage diseas", "lipoid storage disease", "lipoid storage disorder", "lysosomal lipid storage disorder", "rare inborn error of lipid storage"; "lipidoses", "lipidosis", "lipoidoses", "lipoidosis", "rare inborn error of lipid storage"; "Orphanet:79204"; ; rdfs:label "Lipid storage disease" . _:11cccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes."; "PMID:21502308", "https://en.wikipedia.org/wiki/Lipid_storage_disorder" . _:11ccdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79204" . _:11cced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9455"; "MONDO:equivalentTo" . _:11ccfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.5"; "ORDO:79204/attributed", "ORDO:79204/ntbt", "Orphanet:79204" . _:11cd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.6"; "DOID:9455", "ORDO:79204/attributed", "ORDO:79204/ntbt", "Orphanet:79204" . _:11cd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:272.7"; "DOID:9455", "MONDO:equivalentTo", "i2s" . _:11cd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:272.8"; "DOID:9455" . _:11cd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008064"; "DOID:9455", "MONDO:equivalentTo", "MONDO:ontobio" . _:11cd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:10741005"; "DOID:9455", "MONDO:equivalentTo" . _:11cd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205834"; "MONDO:equivalentTo" . _:11cd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of lipid storage"; "MONDO:patterns/inborn_metabolic" . _:11cd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn lipid storage disorder"; "CSP2005:1849-5707", "DOID:9455" . _:11cd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipid storage disease"; "DOID:9455" . _:11cd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid storage diseas"; "DOID:9455" . _:11cdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal lipid storage disorder"; rdfs:comment "preferred label from MONDO" . _:11cdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of lipid storage"; "MONDO:patterns/inborn_metabolic" . _:11cdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoidosis"; "DOID:9455" . _:11cddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of lipid storage"; "MONDO:patterns/inborn_metabolic" . _:11cded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79204" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0019246", "UMLS:CN227605"; "inborn disorder of lysosomal amino acid transport"; "disorder of lysosomal amino acid transport"; "Orphanet:79207"; ; rdfs:label "Disorder of lysosomal amino acid transport" . _:11cdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227605"; "MONDO:equivalentTo" . _:11ce0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of lysosomal amino acid transport"; rdfs:comment "preferred label from MONDO" . _:11ce1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lysosomal amino acid transport"; "Orphanet:79207" . _:11ce2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79207" . a owl:Class; rdfs:subClassOf , , , ; "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies."; , , ; , , , , , , ; "COHD:433446", "DOID:12798", "GARD:0007065", "ICD-10:E76.0", "ICD-10:E76.1", "ICD-10:E76.2", "ICD-10:E76.3", "ICD10:E76.0", "ICD10:E76.1", "ICD10:E76.2", "ICD10:E76.3", "ICD9:277.5", "MESH:D009083", "MONDO:0019249", "MSH:D009083", "MeSH:D009083", "MedDRA:10028093", "NCIT:C61259", "OMIMPS:607014", "SCTID:11380006", "UMLS:C0026703"; "mucopolysaccharidoses", "mucopolysaccharidosis"; "MPS"; "Orphanet:79213"; , ; rdfs:label "Mucopolysaccharidosis", "Mucopolysaccharidosis"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis"^^xsd:anyURI; "ORPHA:79213" . _:11ce3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies."; "NCIT:C61259" . _:11ce4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:433446"; "MONDO:equivalentTo" . _:11ce5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12798"; "MONDO:equivalentTo" . _:11ce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007065"; "MONDO:equivalentTo" . _:11ce7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.0"; "BTNT (broader term maps to a narrower term)"@en . _:11ce8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.0"; "Specific code (The term has its own code in the ICD10)"@en . _:11ce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.1"; "BTNT (broader term maps to a narrower term)"@en . _:11cead a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid28925; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid28925 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.1"; "Specific code (The term has its own code in the ICD10)"@en . _:11cebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.2"; "BTNT (broader term maps to a narrower term)"@en . _:11cecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.2"; "Specific code (The term has its own code in the ICD10)"@en . _:11cedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.3"; "BTNT (broader term maps to a narrower term)"@en . _:11ceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E76.3"; "Specific code (The term has its own code in the ICD10)"@en . _:11cefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E76.0"; "ORDO:79213/btnt", "ORDO:79213/specific", "Orphanet:79213" . _:11cf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E76.1"; "MONDO:superClassOf", "ORDO:79213/btnt", "ORDO:79213/specific", "Orphanet:79213" . _:11cf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E76.2"; "ORDO:79213/btnt", "ORDO:79213/specific", "Orphanet:79213" . _:11cf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E76.3"; "DOID:12798", "ORDO:79213/btnt", "ORDO:79213/specific", "Orphanet:79213" . _:11cf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.5"; "DOID:12798", "MONDO:equivalentTo", "i2s" . _:11cf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009083"; "DOID:12798", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:79213/e", "Orphanet:79213" . _:11cf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009083"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11cf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028093"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11cf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028093"; "ORDO:79213/e", "Orphanet:79213" . _:11cf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61259"; "DOID:12798", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:11cf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:607014"; "MONDO:equivalentTo" . _:11cfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:11380006"; "DOID:12798", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:11cfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026703"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11cfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026703"; "DOID:12798", "MONDO:equivalentTo", "NCIT:C61259", "ORDO:79213/e", "Orphanet:79213" . _:11cfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidoses"; "OMIMPS:607014" . _:11cfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis"; "NCIT:C61259" . _:11cffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis"; rdfs:comment "preferred label from MONDO" . _:11d00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS"; "GARD:0007065" . _:11d01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007065" . _:11d02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79213" . _:11d03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis"^^xsd:anyURI; "GARD:0007065" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0019250", "UMLS:CN227606"; "inborn disorder of biogenic amine metabolism and transport"; "disorder of biogenic amine metabolism and transport"; "Orphanet:79214"; ; rdfs:label "Disorder of biogenic amine metabolism and transport", "Disorder of biogenic amine metabolism and transport"@en; "ORPHA:79214" . _:11d04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227606"; "MONDO:equivalentTo" . _:11d05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of biogenic amine metabolism and transport"; rdfs:comment "preferred label from MONDO" . _:11d06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of biogenic amine metabolism and transport"; "Orphanet:79214" . _:11d07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79214" . a owl:Class; rdfs:subClassOf , , ; ; "ICD10:E77.1", "MONDO:0019251"; "oligosaccharidosis"; "Orphanet:79215"; ; rdfs:label "Oligosaccharidosis" . _:11d08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E77.1"; "ORDO:79215/attributed", "ORDO:79215/ntbt", "Orphanet:79215" . _:11d09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oligosaccharidosis"; rdfs:comment "preferred label from MONDO" . _:11d0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79215" . a owl:Class; rdfs:subClassOf , , , ; , ; "MONDO:0019253", "UMLS:CN205839"; "metabolic disease involving other neurotransmitter deficiency"; "Orphanet:79219"; ; rdfs:label "Metabolic disease involving other neurotransmitter deficiency", "Metabolic disease involving other neurotransmitter deficiency"@en; "ORPHA:79219" . _:11d0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205839"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease involving other neurotransmitter deficiency"; rdfs:comment "preferred label from MONDO" . _:11d0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79219" . a owl:Class; rdfs:subClassOf ; , , , , ; , , , , ; "DOID:653", "ICD10:E79.0", "ICD10:E79.1", "ICD10:E79.8", "ICD10:E79.9", "ICD9:277.2", "MESH:D011686", "MONDO:0019254", "MSH:D011686", "MedDRA:10037546", "UMLS:C0034139"; "inborn disorder of purine or pyrimidine metabolism", "inborn errors of purine-pyrimidine metabolism", "inborn purine-pyrimidine metabolic disorder"; "disorder of purine or pyrimidine metabolism", "purine-pyrimidine metabolic disorder"; "Orphanet:79224"; ; rdfs:label "Disorder of purine or pyrimidine metabolism" . _:11d0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:653"; "MONDO:equivalentTo" . _:11d0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E79.0"; "ORDO:79224/btnt", "ORDO:79224/specific", "Orphanet:79224" . _:11d10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E79.1"; "MONDO:superClassOf", "ORDO:79224/btnt", "ORDO:79224/specific", "Orphanet:79224" . _:11d11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E79.8"; "DOID:653", "ORDO:79224/btnt", "ORDO:79224/specific", "Orphanet:79224" . _:11d12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E79.9"; "ORDO:79224/btnt", "ORDO:79224/specific", "Orphanet:79224" . _:11d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.2"; "DOID:653" . _:11d14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011686"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:79224/e", "Orphanet:79224" . _:11d15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037546"; "ORDO:79224/e", "Orphanet:79224" . _:11d16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0034139"; "MONDO:equivalentTo", "ORDO:79224/e", "Orphanet:79224" . _:11d17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn disorder of purine or pyrimidine metabolism"; rdfs:comment "preferred label from MONDO" . _:11d18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn errors of purine-pyrimidine metabolism"; "DOID:653" . _:11d19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn purine-pyrimidine metabolic disorder"; "MONDO:0003914" . _:11d1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of purine or pyrimidine metabolism"; "Orphanet:79224" . _:11d1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "purine-pyrimidine metabolic disorder"; "DOID:653" . _:11d1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79224" . a owl:Class; rdfs:subClassOf ; "A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.", "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease."; , , , , , ; "DOID:1927", "GARD:0007672", "ICD10:E75.0", "ICD10:E75.1", "ICD10:E75.2", "ICD10:E75.3", "MESH:D013106", "MONDO:0019255", "MSH:D013106", "NCIT:C117254", "SCTID:238028008", "UMLS:C0037899"; "Sphingolipid Storage Diseases", "Sphingolipidosis (disorder)", "Sphingolipidosis NOS", "sphingolipidoses", "sphingolipidosis"; "sphingolipidosis, NOS"; "Orphanet:79225"; , ; rdfs:label "Sphingolipidosis"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis"^^xsd:anyURI . _:11d1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease."; "NCIT:P378", "PMID:21502308" . _:11d1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1927"; "MONDO:equivalentTo" . _:11d1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007672"; "MONDO:equivalentTo" . _:11d20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.0"; "MONDO:superClassOf", "ORDO:79225/btnt", "ORDO:79225/specific", "Orphanet:79225" . _:11d21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.1"; "ORDO:79225/btnt", "ORDO:79225/specific", "Orphanet:79225" . _:11d22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.2"; "ORDO:79225/btnt", "ORDO:79225/specific", "Orphanet:79225" . _:11d23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E75.3"; "DOID:1927", "ORDO:79225/btnt", "ORDO:79225/specific", "Orphanet:79225" . _:11d24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013106"; "DOID:1927", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:79225/e", "Orphanet:79225" . _:11d25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C117254"; "DOID:1927", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:11d26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:238028008"; "DOID:1927", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11d27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037899"; "DOID:1927", "MONDO:equivalentTo", "NCIT:C117254", "ORDO:79225/e", "Orphanet:79225" . _:11d28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingolipidoses"; "DOID:1927" . _:11d29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingolipidosis"; rdfs:comment "preferred label from MONDO" . _:11d2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sphingolipidosis, NOS"; "DOID:1927"; . _:11d2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007672" . _:11d2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79225" . _:11d2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis"^^xsd:anyURI; "GARD:0007672" . a owl:Class; rdfs:subClassOf , ; "An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process."; , ; "MONDO:0019256", "UMLS:CN227607"; "inborn error of sterol metabolic process", "inborn sterol metabolic process disorder", "rare inborn error of sterol metabolic process", "sterol metabolism disorder"; "rare inborn error of sterol metabolic process"; "Orphanet:79226"; ; rdfs:label "Sterol metabolism disorder" . _:11d2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process."; "MONDO:patterns/inborn_metabolic" . _:11d2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227607"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11d30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inborn error of sterol metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11d31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of sterol metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11d32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sterol metabolism disorder"; rdfs:comment "preferred label from MONDO" . _:11d33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare inborn error of sterol metabolic process"; "MONDO:patterns/inborn_metabolic" . _:11d34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79226" . a owl:Class; rdfs:subClassOf , , , ; "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)."; ; , , , , ; "G6P deficiency type Ib"@en, "G6P translocase deficiency"@en, "G6PT deficiency"@en, "GSD due to G6P deficiency type 1b"@en, "GSD due to G6P deficiency type Ib"@en, "GSD due to G6PT deficiency"@en, "GSD type 1 non a"@en, "GSD type 1b"@en, "GSD type Ib"@en, "GSDIb"@en, "Glycogen storage disease due to G6P deficiency type Ib"@en, "Glycogen storage disease type 1b"@en, "Glycogen storage disease type Ib"@en, "Glycogenosis due to glucose-6-phosphatase deficiency type 1b"@en, "Glycogenosis due to glucose-6-phosphatase transport defect type Ib"@en, "Glycogenosis type 1b"@en, "Glycogenosis type Ib"@en; "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)."@en; "orphanet", "orphanet"@en; "GARD:0002515", "ICD-10:E74.0", "ICD10:E74.0", "MESH:C562594", "MONDO:0009288", "NCIT:C122661", "OMIM:232220", "OMIM:232240", "SCTID:30102006", "UMLS:C0268146"; "G6P deficiency type IB", "G6P deficiency type b", "G6P translocase deficiency", "G6PT deficiency", "GSD due to G6P deficiency type IB", "GSD due to G6P deficiency type b", "GSD due to G6PT deficiency", "GSD type 1 non a", "GSD type 1b", "GSD type IB", "GSDIb", "Glycogen storage disease due to G6P deficiency type b", "Glycogen storage disease type 1b", "Glycogenosis due to glucose-6-phosphatase deficiency type b", "Glycogenosis due to glucose-6-phosphatase transport defect", "Glycogenosis type Ib", "glycogen storage disease due to G6P deficiency type IB", "glycogen storage disease due to glucose-6-phosphatase deficiency type IB", "glycogen storage disease type 1b", "glycogen storage disease type I non-a", "glycogen storage disease type IB", "glycogenosis due to glucose-6-phosphatase deficiency type 1b", "glycogenosis due to glucose-6-phosphatase transport defect type IB", "glycogenosis type 1b", "glycogenosis type IB"; "GSD Ib", "GSD1B", "glucose-6-phosphate Transport defect", "glycogen storage disease Ib", "glycogen storage disease Ib; GSD1B"; "Orphanet:79259"; ; rdfs:comment "Editor note: TODO decide whether to merge Ic"; rdfs:label "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"@en, "Glycogen storage disease due to glucose-6-phosphatase deficiency type b"; "ORPHA:79259" . _:11d35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)."; "Orphanet:79259" . _:11d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002515"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11d37d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29003; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29003 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Attributed"@en . _:11d38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:11d39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:79259/attributed", "ORDO:79259/ntbt", "Orphanet:79259" . _:11d3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562594"; "MONDO:equivalentTo", "MONDO:ontobio" . _:11d3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122661"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11d3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232220"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232220"; "MONDO:equivalentTo", "ORDO:79259/e", "Orphanet:79259" . _:11d3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:232240"; "BTNT (broader term maps to a narrower term)"@en . _:11d3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30102006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.48" . _:11d40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268146"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G6P deficiency type IB"; "Orphanet:79259" . _:11d42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G6P translocase deficiency"; "Orphanet:79259" . _:11d43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G6PT deficiency"; "Orphanet:79259" . _:11d44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to G6P deficiency type IB"; "Orphanet:79259" . _:11d45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to G6PT deficiency"; "Orphanet:79259" . _:11d46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 1 non a"; "Orphanet:79259" . _:11d47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 1b"; "Orphanet:79259" . _:11d48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type IB"; "Orphanet:79259" . _:11d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSDIb"; "Orphanet:79259" . _:11d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to G6P deficiency type IB"; "Orphanet:79259" . _:11d4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to glucose-6-phosphatase deficiency type IB"; rdfs:comment "preferred label from MONDO" . _:11d4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 1b"; "Orphanet:79259" . _:11d4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type I non-a"; "NCIT:C122661" . _:11d4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type IB"; "MONDORULE:5", "OMIM:232220", "Orphanet:79259" . _:11d4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to glucose-6-phosphatase deficiency type 1b"; "Orphanet:79259" . _:11d50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to glucose-6-phosphatase transport defect type IB"; "Orphanet:79259" . _:11d51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type 1b"; "Orphanet:79259" . _:11d52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type IB"; "Orphanet:79259" . _:11d53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD Ib"; "OMIM:232220" . _:11d54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD1B"; "MONDO:Lexical", "OMIM:232220" . _:11d55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucose-6-phosphate Transport defect"; "OMIM:232220" . _:11d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease Ib"; "MONDO:Lexical", "OMIM:232220" . _:11d57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease Ib; GSD1B"; "OMIM:232220" . _:11d58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79259" . a owl:Class; rdfs:subClassOf , ; "Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions."; , ; , , , , , , , ; "Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions."@en; "orphanet"@en; "DOID:13269", "GARD:0006619", "ICD-10:E80.2", "ICD10:E80.2", "ICD10:E80.29", "MESH:D046349", "MONDO:0007369", "MSH:D046349", "MeSH:D046349", "MedDRA:10019866", "NCIT:C84759", "OMIM:121300", "SCTID:7425008", "UMLS:C0162531"; "coproporphyrinogen oxidase deficiency", "hereditary coproporphyria", "hereditary coproporphyria porphyria"; "CPRO deficiency", "Cpo deficiency", "Cpox deficiency", "Cpx deficiency", "HCP", "Harderoporphyria", "coproporphyria", "coproporphyria hereditary", "coproporphyria, hereditary", "coproporphyria, hereditary; HCP", "porphyria hepatica II", "porphyria hepatica coproporphyria"; "Orphanet:79273"; , ; rdfs:label "Hereditary coproporphyria", "Hereditary coproporphyria"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria"^^xsd:anyURI; "ORPHA:79273" . _:11d59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions."; "Orphanet:79273" . _:11d5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13269"; "MONDO:equivalentTo" . _:11d5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006619"; "MONDO:equivalentTo" . _:11d5cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29041; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29041 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "Attributed"@en . _:11d5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "NTBT (narrower term maps to a broader term)"@en . _:11d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.2"; "ORDO:79273/attributed", "ORDO:79273/ntbt", "Orphanet:79273" . _:11d5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.29"; "DOID:13269" . _:11d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D046349"; "DOID:13269", "MONDO:equivalentTo", "ORDO:79273/e", "Orphanet:79273" . _:11d61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D046349"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019866"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019866"; "ORDO:79273/e", "Orphanet:79273" . _:11d64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84759"; "DOID:13269", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:11d65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:121300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:121300"; "DOID:13269", "MONDO:equivalentTo", "ORDO:79273/e", "Orphanet:79273" . _:11d67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:7425008"; "DOID:13269", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.72/0.91" . _:11d68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162531"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162531"; "DOID:13269", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84759", "OMIM:121300", "ORDO:79273/e", "Orphanet:79273" . _:11d6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coproporphyrinogen oxidase deficiency"; "DOID:13269", "OMIM:121300" . _:11d6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary coproporphyria"; "DOID:13269", "MTHICD9_2006:277.1" . _:11d6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary coproporphyria"; rdfs:comment "preferred label from MONDO" . _:11d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary coproporphyria porphyria"; "CSP2005:1849-7674", "DOID:13269" . _:11d6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPRO deficiency"; "GARD:0006619" . _:11d6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cpo deficiency"; "OMIM:121300" . _:11d70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cpox deficiency"; "OMIM:121300" . _:11d71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cpx deficiency"; "OMIM:121300" . _:11d72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCP"; "MONDO:Lexical", "OMIM:121300" . _:11d73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Harderoporphyria"; "OMIM:121300" . _:11d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coproporphyria"; "GARD:0006619" . _:11d75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coproporphyria hereditary"; "GARD:0006619" . _:11d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coproporphyria, hereditary"; "MONDO:Lexical", "OMIM:121300" . _:11d77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "coproporphyria, hereditary; HCP"; "OMIM:121300" . _:11d78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria hepatica II"; "GARD:0006619" . _:11d79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria hepatica coproporphyria"; "GARD:0006619" . _:11d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006619" . _:11d7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79273" . _:11d7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria"^^xsd:anyURI; "GARD:0006619" . a owl:Class; rdfs:subClassOf , , ; "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations."; , , , , ; , , , , , , ; "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations."@en; "orphanet"@en; "DOID:3890", "GARD:0005732", "ICD-10:E80.2", "ICD10:E80.2", "MESH:D017118", "MONDO:0008294", "MSH:D017118", "MeSH:D017118", "NCIT:C84536", "OMIM:176000", "SCTID:234422006", "UMLS:C0162565"; "AIP - acute intermittent porphyria", "acute intermittent porphyria", "porphyria intermittent acute", "pyrroloporphyria"; "AIP", "HMBS deficiency", "PBGD deficiency", "UPS deficiency", "hydroxymethylbilane synthase deficiency", "porphobilinogen deaminase deficiency", "porphyria, Chester type", "porphyria, Swedish type", "porphyria, acute intermittent", "porphyria, acute intermittent, Nonerythroid variant", "porphyria, acute intermittent; AIP", "uroporphyrinogen synthase deficiency"; "Orphanet:79276"; ; rdfs:label "Acute intermittent porphyria", "Acute intermittent porphyria"@en; "ORPHA:79276" . _:11d7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations."; "Orphanet:79276" . _:11d7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3890"; "MONDO:equivalentTo" . _:11d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005732"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11d80d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29078; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29078 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "Attributed"@en . _:11d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "NTBT (narrower term maps to a broader term)"@en . _:11d82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.2"; "ORDO:79276/attributed", "ORDO:79276/ntbt", "Orphanet:79276" . _:11d83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017118"; "DOID:3890", "MONDO:equivalentTo", "ORDO:79276/e", "Orphanet:79276" . _:11d84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017118"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84536"; "DOID:3890", "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.79/0.12" . _:11d86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176000"; "DOID:3890", "MONDO:equivalentTo", "ORDO:79276/e", "Orphanet:79276" . _:11d88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234422006"; "DOID:3890", "MONDO:equivalentTo", "MONDO:kboom-pr-0.67/0.28/0.20" . _:11d89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162565"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11d8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162565"; "DOID:3890", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84536", "OMIM:176000", "ORDO:79276/e", "Orphanet:79276" . _:11d8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AIP - acute intermittent porphyria"; "DOID:3890" . _:11d8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute intermittent porphyria"; rdfs:comment "preferred label from MONDO" . _:11d8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria intermittent acute"; "CSP2005:1849-7674", "DOID:3890" . _:11d8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pyrroloporphyria"; "DOID:3890", "MTHICD9_2006:277.1" . _:11d8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AIP"; "MONDO:Lexical", "OMIM:176000" . _:11d90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMBS deficiency"; "GARD:0005732" . _:11d91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PBGD deficiency"; "OMIM:176000" . _:11d92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPS deficiency"; "OMIM:176000" . _:11d93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydroxymethylbilane synthase deficiency"; "GARD:0005732" . _:11d94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphobilinogen deaminase deficiency"; "OMIM:176000" . _:11d95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria, Chester type"; "OMIM:176000" . _:11d96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria, Swedish type"; "OMIM:176000" . _:11d97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria, acute intermittent"; "MONDO:Lexical", "OMIM:176000" . _:11d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria, acute intermittent, Nonerythroid variant"; "OMIM:176000" . _:11d99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria, acute intermittent; AIP"; "OMIM:176000" . _:11d9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uroporphyrinogen synthase deficiency"; "OMIM:176000" . _:11d9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79276" . a owl:Class; rdfs:subClassOf , ; "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.", "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity."; , , ; "EPP"@en; "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity."@en; "orphanet", "orphanet"@en; "DOID:13270", "ICD-10:E80.0", "ICD10:E80.0", "MESH:D046351", "MSH:D046351", "MeSH:D046351", "MedDRA:10015289", "OMIM:177000", "OMIM:300752", "OMIMPS:177000", "SCTID:51022005", "UMLS:C0162568"; "EPP", "EPP (erythropoietic protoporphyria porphyria)", "XLDPP", "erythropoietic protoporphyria", "protoporphyria"; "Orphanet:79278"; rdfs:label "Autosomal erythropoietic protoporphyria"@en, "Erythropoietic protoporphyria"; "ORPHA:79278" . _:11d9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly."; "NCIT:P378" . _:11d9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13270"; "MONDO:equivalentTo" . _:11d9ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29109; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29109 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11d9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.0"; "NTBT (narrower term maps to a broader term)"@en . _:11da0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.0"; "DOID:13270" . _:11da1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D046351"; "DOID:13270", "MONDO:equivalentTo" . _:11da2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D046351"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11da3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10015289"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11da4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:177000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11da5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:177000"; "MONDO:equivalentTo" . _:11da6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:51022005"; "DOID:13270", "MONDO:equivalentTo", "MONDO:kboom-pr-0.82/0.62/0.09" . _:11da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162568"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11da8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPP"; "DOID:13270" . _:11da9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPP (erythropoietic protoporphyria porphyria)"; "CSP2005:1849-7560", "DOID:13270" . _:11daad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erythropoietic protoporphyria"; rdfs:comment "preferred label from MONDO" . _:11dabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "protoporphyria"; "DOID:13270", "MTHICD9_2006:277.1" . a owl:Class; rdfs:subClassOf , , , ; " type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.", "cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner."; , , , , , ; "CblC defect"@en, "Cobalamin C defect"@en, "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC"@en, "Methylmalonic aciduria with homocystinuria, type cblC"@en; "cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures."@en; "orphanet", "orphanet"@en; "DOID:0050715", "GARD:0012128", "ICD-10:E72.1", "ICD10:E72.1", "MONDO:0010184", "NCIT:C142174", "OMIM:277400", "SCTID:74653006", "UMLS:CN205878"; "CblC defect", "Cobalamin C defect", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC", "Methylmalonic aciduria with homocystinuria, type cblC", "cblC defect", "cobalamin C defect", "cobalamin C deficiency", "cobalamin c disease", "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC", "methylmalonic aciduria and homocystinuria type cblC", "methylmalonic aciduria with homocystinuria, type cblC"; "MAHCC", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase", "cblC", "cblC - cobalamin locus c", "cblC methylmalonic acidemia and homocystinuria", "cobalamin locus c variant", "methylmalonic acidemia and homocystinuria cblC", "methylmalonic acidemia and homocystinuria, cblC type", "methylmalonic acidemia with homocystinuria type cblC", "methylmalonic acidemia with homocystinuria, type cblC", "methylmalonic aciduria and homocystinuria cblC", "methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "methylmalonic aciduria and homocystinuria, cblC type", "methylmalonic aciduria and homocystinuria, cblC type, digenic", "methylmalonic aciduria and homocystinuria, cblC type; MAHCC"; "Orphanet:79282"; ; rdfs:label "Methylmalonic acidemia with homocystinuria, type cblC", "Methylmalonic acidemia with homocystinuria, type cblC"@en; "ORPHA:79282" . _:11dacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner."; "Orphanet:79282" . _:11dadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050715"; "MONDO:equivalentTo" . _:11daed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012128"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11dafd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29127; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29127 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:11db0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:11db1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:79282/attributed", "ORDO:79282/ntbt", "Orphanet:79282" . _:11db2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C142174"; "MONDO:equivalentTo" . _:11db3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11db4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277400"; "DOID:0050715", "MONDO:equivalentTo", "ORDO:79282/e", "Orphanet:79282" . _:11db5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:74653006"; "MONDO:equivalentTo" . _:11db6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205878"; "MONDO:equivalentTo" . _:11db7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cblC defect"; "Orphanet:79282" . _:11db8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobalamin C defect"; "Orphanet:79282" . _:11db9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobalamin C deficiency"; "DOID:0050715" . _:11dbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC"; "Orphanet:79282" . _:11dbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria type cblC"; rdfs:comment "preferred label from MONDO" . _:11dbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria with homocystinuria, type cblC"; "Orphanet:79282" . _:11dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAHCC"; "OMIM:277400" . _:11dbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase"; "OMIM:277400" . _:11dbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cblC"; "GARD:0012128" . _:11dc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia and homocystinuria cblC"; "GARD:0012128" . _:11dc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia and homocystinuria, cblC type"; "OMIM:277400" . _:11dc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia with homocystinuria type cblC"; "GARD:0012128" . _:11dc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia with homocystinuria, type cblC"; "Orphanet:79282" . _:11dc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria cblC"; "GARD:0012128" . _:11dc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria, Vitamin B12-responsive"; "OMIM:277400" . _:11dc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria, cblC type"; "OMIM:277400" . _:11dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria, cblC type, digenic"; "OMIM:277400" . _:11dc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria, cblC type; MAHCC"; "OMIM:277400" . _:11dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79282" . a owl:Class; rdfs:subClassOf , ; " type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.", "cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner."; ; , , , , ; "CblF defect"@en, "Cobalamin F defect"@en, "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF"@en, "Lysosomal membrane cobalamin transporter deficiency"@en, "Methylmalonic aciduria with homocystinuria, type cblF"@en; "cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures."@en; "orphanet", "orphanet"@en; "DOID:0050717", "GARD:0003584", "ICD-10:E72.1", "ICD10:E72.1", "MESH:C564747", "MONDO:0010183", "OMIM:277380", "SCTID:80887004", "UMLS:C1848578"; "CblF defect", "Cobalamin F defect", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF", "Lysosomal membrane cobalamin transporter deficiency", "Methylmalonic aciduria with homocystinuria, type cblF", "cblF defect", "cobalamin F defect", "cobalamin F deficiency", "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF", "inherited methylmalonic acidemia and homocystinuria", "lysosomal membrane cobalamin transporter deficiency", "methylmalonic aciduria and homocystinuria type cblF", "methylmalonic aciduria with homocystinuria, type cblF"; "MAHCF", "Vitamin B12 lysosomal release defect", "Vitamin B12 storage disease", "cblF methylmalonic acidemia and homocystinuria", "cobalamin F disease", "cobalamin locus f variant", "cobalamin, defect in lysosomal release of", "methylmalonic acidemia and homocystinuria, cblF type", "methylmalonic acidemia with homocystinuria type cblF", "methylmalonic aciduria and homocystinuria, cblF type", "methylmalonic aciduria and homocystinuria, cblF type; MAHCF", "methylmalonic aciduria due to Vitamin B12-release defect"; "Orphanet:79284"; ; rdfs:comment "Editor note: TODO - relevant annotation from GO"; rdfs:label "Methylmalonic acidemia with homocystinuria type cblF", "Methylmalonic acidemia with homocystinuria type cblF"@en; "ORPHA:79284" . _:11dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner."; "Orphanet:79284" . _:11dcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050717"; "MONDO:equivalentTo" . _:11dccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003584"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:11dcdd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29158; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29158 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:11dced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:11dcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "ORDO:79284/attributed", "ORDO:79284/ntbt", "Orphanet:79284" . _:11dd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564747"; "MONDO:equivalentTo", "MONDO:ontobio" . _:11dd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277380"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11dd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277380"; "DOID:0050717", "MONDO:equivalentTo", "ORDO:79284/e", "Orphanet:79284" . _:11dd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:80887004"; "MONDO:equivalentTo" . _:11dd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1848578"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11dd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cblF defect"; "Orphanet:79284" . _:11dd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobalamin F defect"; "Orphanet:79284" . _:11dd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobalamin F deficiency"; "DOID:0050717" . _:11dd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF"; "Orphanet:79284" . _:11dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal membrane cobalamin transporter deficiency"; "Orphanet:79284" . _:11ddad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria type cblF"; rdfs:comment "preferred label from MONDO" . _:11ddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria with homocystinuria, type cblF"; "Orphanet:79284" . _:11ddcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAHCF"; "OMIM:277380" . _:11dddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin B12 lysosomal release defect"; "OMIM:277380" . _:11dded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin B12 storage disease"; "OMIM:277380" . _:11ddfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobalamin F disease"; "OMIM:277380" . _:11de0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cobalamin, defect in lysosomal release of"; "OMIM:277380" . _:11de1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia and homocystinuria, cblF type"; "OMIM:277380" . _:11de2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic acidemia with homocystinuria type cblF"; "Orphanet:79284" . _:11de3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria, cblF type"; "OMIM:277380" . _:11de4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria and homocystinuria, cblF type; MAHCF"; "OMIM:277380" . _:11de5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "methylmalonic aciduria due to Vitamin B12-release defect"; "OMIM:277380" . _:11de6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79284" . a owl:Class; rdfs:subClassOf ; "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion."; ; "Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form"@en; "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion."@en; "orphanet", "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0019265"; "Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form", "diazoxide-resistant focal hyperinsulinism", "hyperinsulinemic hypoglycemia, diazoxide-resistant focal form"; "Orphanet:79298"; ; rdfs:label "Diazoxide-resistant focal hyperinsulinism", "Diazoxide-resistant focal hyperinsulinism"@en; "ORPHA:79298" . _:11de7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion."; "Orphanet:79298" . _:11de8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29186; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29186 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:11de9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:11dead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:79298/attributed", "ORDO:79298/ntbt", "Orphanet:79298" . _:11debd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diazoxide-resistant focal hyperinsulinism"; rdfs:comment "preferred label from MONDO" . _:11decd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, diazoxide-resistant focal form"; "Orphanet:79298" . _:11dedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79298" . a owl:Class; rdfs:subClassOf , , , ; "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae."; ; , , , , ; "Hyperinsulinemic hypoglycemia due to glucokinase deficiency"@en; "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae."@en; "orphanet", "orphanet"@en; "DOID:0070216", "GARD:0002818", "GARD:0009930", "ICD-10:E16.1", "ICD10:E16.1", "MESH:C538374", "MONDO:0011236", "OMIM:602485", "SCTID:717182006"; "Hyperinsulinemic hypoglycemia due to glucokinase deficiency", "hyperinsulinemic hypoglycemia due to glucokinase deficiency", "hyperinsulinemic hypoglycemia, familial, type 3", "hyperinsulinism due to glucokinase deficiency"; "HHF3", "hyperinsulinemic hypoglycemia familial 3", "hyperinsulinemic hypoglycemia, familial, 3", "hyperinsulinemic hypoglycemia, familial, 3; HHF3"; "Orphanet:79299"; , ; rdfs:label "Hyperinsulinism due to glucokinase deficiency", "Hyperinsulinism due to glucokinase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3"^^xsd:anyURI; "ORPHA:79299" . _:11deed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae."; "Orphanet:79299" . _:11defd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0070216"; "MONDO:equivalentTo" . _:11df0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002818"; "MONDO:equivalentTo", "Orphanet-shared" . _:11df1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009930"; "MONDO:equivalentTo" . _:11df2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29197; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29197 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:11df3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:11df4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:79299/attributed", "ORDO:79299/ntbt", "Orphanet:79299" . _:11df5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538374"; "MONDO:equivalentTo" . _:11df6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602485"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11df7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602485"; "GARD:0009930", "MONDO:equivalentTo", "ORDO:79299/e", "Orphanet:79299" . _:11df8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717182006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.31" . _:11df9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia due to glucokinase deficiency"; "Orphanet:79299" . _:11dfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, type 3"; "MONDORULE:1", "OMIM:602485" . _:11dfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinism due to glucokinase deficiency"; rdfs:comment "preferred label from MONDO" . _:11dfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHF3"; "GARD:0009930", "MONDO:Lexical", "OMIM:602485" . _:11dfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia familial 3"; "GARD:0009930" . _:11dfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 3"; "MONDO:Lexical", "OMIM:602485" . _:11dffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperinsulinemic hypoglycemia, familial, 3; HHF3"; "OMIM:602485" . _:11e00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79299" . _:11e01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3"^^xsd:anyURI; "GARD:0009930" . a owl:Class; rdfs:subClassOf , , ; "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)."; , , , , ; "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)."@en; "orphanet", "orphanet"@en; "DOID:0050724", "ICD-10:E72.8", "ICD10:E72.8", "ICD9:277.6", "MONDO:0013531", "OMIM:614023", "SCTID:124432005", "UMLS:C1291463"; "PSPH deficiency", "PSPHD", "phosphoserine phosphatase deficiency"; "3-phosphoserine phosphatase deficiency", "phosphoserine phosphatase deficiency; PSPHD"; "Orphanet:79350"; ; rdfs:label "3-phosphoserine phosphatase deficiency", "3-phosphoserine phosphatase deficiency"@en; "ORPHA:79350" . _:11e02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)."; "Orphanet:79350" . _:11e03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050724"; "MONDO:equivalentTo" . _:11e04d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29216; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29216 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "Attributed"@en . _:11e05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.8"; "NTBT (narrower term maps to a broader term)"@en . _:11e06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.8"; "ORDO:79350/attributed", "ORDO:79350/ntbt", "Orphanet:79350" . _:11e07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.6"; "MONDO:relatedTo", "i2s" . _:11e08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614023"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614023"; "DOID:0050724", "MONDO:equivalentTo", "ORDO:79350/e", "Orphanet:79350" . _:11e0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124432005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.61" . _:11e0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1291463"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:614023" . _:11e0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSPH deficiency"; rdfs:comment "preferred label from MONDO" . _:11e0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSPHD"; "DOID:0050724", "MONDO:Lexical", "OMIM:614023" . _:11e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphoserine phosphatase deficiency"; "DOID:0050724", "MONDO:Lexical", "OMIM:614023" . _:11e0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-phosphoserine phosphatase deficiency"; "Orphanet:79350" . _:11e10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phosphoserine phosphatase deficiency; PSPHD"; "OMIM:614023" . _:11e11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79350" . a owl:Class; rdfs:subClassOf ; rdfs:label "Epidermal disease"@en; "ORPHA:79353" . a owl:Class; rdfs:subClassOf ; "MeSH:D007057", "MedDRA:10021198", "UMLS:C0020757", "UMLS:C0020758"; rdfs:label "Ichthyosis"@en; "ORPHA:79354" . _:11e12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D007057"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10021198"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020757"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020758"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "MedDRA:10015280", "UMLS:C0432330"; rdfs:label "Erythrokeratoderma"@en; "ORPHA:79355" . _:11e16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10015280"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0432330"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:Q82.8"; rdfs:label "Acrokeratoderma"@en; "ORPHA:79356" . _:11e18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , , , ; "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome."; , , ; "Hereditary PPK"@en, "Hereditary keratosis palmoplantaris"@en, "Hereditary palmoplantar hyperkeratosis"@en; "ICD-10:Q82.8", "ICD10:Q82.8", "ICD9:757.39", "MONDO:0019272", "SCTID:239066003", "UMLS:C0406757"; "Hereditary PPK", "Hereditary keratosis palmoplantaris", "Hereditary palmoplantar hyperkeratosis", "hereditary PPK", "hereditary keratosis palmoplantaris", "hereditary palmoplantar hyperkeratosis", "hereditary palmoplantar keratoderma", "hereditary palmoplantar keratosis"; "Orphanet:79357"; ; rdfs:label "Hereditary palmoplantar keratoderma", "Hereditary palmoplantar keratoderma"@en; "ORPHA:79357" . _:11e19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:11e1ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29239; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29239 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:11e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "ORDO:79357/inclusion", "ORDO:79357/ntbt", "Orphanet:79357" . _:11e1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:11e1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:239066003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11e1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0406757"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary PPK"; "Orphanet:79357" . _:11e21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary keratosis palmoplantaris"; "Orphanet:79357" . _:11e22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary palmoplantar hyperkeratosis"; "Orphanet:79357" . _:11e23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary palmoplantar keratoderma"; rdfs:comment "preferred label from MONDO" . _:11e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary palmoplantar keratosis"; "MONDO:patterns/hereditary" . _:11e25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79357" . a owl:Class; rdfs:subClassOf ; "ICD-10:Q82.8", "MeSH:D017499", "MedDRA:10036175", "UMLS:C0162839"; rdfs:label "Porokeratosis"@en; "ORPHA:79358" . _:11e26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:11e27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017499"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036175"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162839"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0019275", "UMLS:CN205922"; "other genetic epidermal disease"; "Orphanet:79360"; , ; rdfs:comment "Editor note: consider merging"; rdfs:label "Other genetic epidermal disease" . _:11e2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205922"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11e2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "other genetic epidermal disease"; rdfs:comment "preferred label from MONDO" . _:11e2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79360" . a owl:Class; rdfs:subClassOf , , , , ; "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues."; , , ; "Epidermolysis bullosa hereditaria"@en, "Hereditary epidermolysis bullosa"@en; "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues."@en; "orphanet", "orphanet"@en; "ICD-10:Q81.0", "ICD-10:Q81.1", "ICD-10:Q81.2", "ICD-10:Q81.8", "ICD-10:Q81.9", "ICD10:Q81.0", "ICD10:Q81.1", "ICD10:Q81.2", "ICD10:Q81.8", "ICD10:Q81.9", "ICD9:757.39", "MONDO:0019276", "SCTID:402781004", "UMLS:C1274224"; "Epidermolysis bullosa hereditaria", "Hereditary epidermolysis bullosa", "epidermolysis bullosa hereditaria", "hereditary epidermolysis bullosa", "inherited epidermolysis bullosa"; "Orphanet:79361"; ; rdfs:label "Inherited epidermolysis bullosa", "Inherited epidermolysis bullosa"@en; "ORPHA:79361" . _:11e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues."; "Orphanet:79361" . _:11e2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.0"; "Attributed"@en . _:11e2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.0"; "NTBT (narrower term maps to a broader term)"@en . _:11e30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.1"; "Attributed"@en . _:11e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.1"; "NTBT (narrower term maps to a broader term)"@en . _:11e32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.2"; "Attributed"@en . _:11e33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.2"; "NTBT (narrower term maps to a broader term)"@en . _:11e34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.8"; "Attributed"@en . _:11e35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.8"; "NTBT (narrower term maps to a broader term)"@en . _:11e36d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29268; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29268 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.9"; "Attributed"@en . _:11e37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q81.9"; "NTBT (narrower term maps to a broader term)"@en . _:11e38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.0"; "MONDO:superClassOf", "ORDO:79361/attributed", "ORDO:79361/ntbt", "Orphanet:79361" . _:11e39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.1"; "ORDO:79361/attributed", "ORDO:79361/ntbt", "Orphanet:79361" . _:11e3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.2"; "ORDO:79361/attributed", "ORDO:79361/ntbt", "Orphanet:79361" . _:11e3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.8"; "ORDO:79361/attributed", "ORDO:79361/ntbt", "Orphanet:79361" . _:11e3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q81.9"; "ORDO:79361/attributed", "ORDO:79361/ntbt", "Orphanet:79361" . _:11e3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.39"; "MONDO:relatedTo", "i2s" . _:11e3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:402781004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/26.82" . _:11e3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1274224"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epidermolysis bullosa hereditaria"; "Orphanet:79361" . _:11e41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary epidermolysis bullosa"; "MONDO:patterns/hereditary", "Orphanet:79361" . _:11e42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited epidermolysis bullosa"; rdfs:comment "preferred label from MONDO" . _:11e43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79361" . a owl:Class; rdfs:subClassOf , ; "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions."; , , , , , , ; , , , , , ; "true"; "COHD:133280", "DOID:987", "ICD10:L65.9", "ICD9:704.0", "ICD9:704.00", "ICD9:704.09", "MESH:D000505", "MONDO:0004907", "NCIT:C50575", "SCTID:56317004", "UMLS:C0002170"; "alopecia", "alopecia areata", "hair loss", "loss Of hair"; "Orphanet:79364"; ; rdfs:label "Alopecia" . _:11e44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions."; "NCIT:C50575" . _:11e45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:133280"; "MONDO:equivalentTo" . _:11e46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:987"; "MONDO:equivalentTo" . _:11e47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:L65.9"; "DOID:987" . _:11e48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:704.0"; "DOID:987" . _:11e49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:704.00"; "DOID:987", "MONDO:equivalentTo", "i2s" . _:11e4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:704.09"; "MONDO:relatedTo", "i2s" . _:11e4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000505"; "DOID:987", "MONDO:equivalentTo" . _:11e4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C50575"; "DOID:987", "MONDO:equivalentTo" . _:11e4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:56317004"; "DOID:987", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:11e4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002170"; "DOID:987", "MONDO:equivalentTo", "NCIT:C50575", "Orphanet:79364" . _:11e4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alopecia"; "MONDO:0019279" . _:11e50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alopecia"; rdfs:comment "preferred label from MONDO" . _:11e51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alopecia areata"; "NCIT:C50575" . _:11e52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hair loss"; "NCIT:C50575" . _:11e53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "loss Of hair"; "NCIT:C50575" . _:11e54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79364" . a owl:Class; rdfs:subClassOf , ; "A nail anomaly that is part of a larger syndrome."; , ; "MONDO:0019285", "UMLS:CN227613"; "syndrome associated with nail anomaly", "syndromic nail anomaly"; "syndrome associated with nail anomaly"; "Orphanet:79370"; ; rdfs:label "Syndromic nail anomaly" . _:11e55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nail anomaly that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:11e56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227613"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:11e57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with nail anomaly"; "MONDO:patterns/syndromic" . _:11e58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic nail anomaly"; "MONDO:patterns/syndromic" . _:11e59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic nail anomaly"; rdfs:comment "preferred label from MONDO" . _:11e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with nail anomaly"; "MONDO:patterns/syndromic" . _:11e5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79370" . a owl:Class; rdfs:subClassOf , , ; "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."; , , , , , , ; "orphanet"; "COHD:134757", "DOID:2121", "GARD:0006317", "ICD9:757.31", "MESH:D004476", "MONDO:0019287", "MSH:D004476", "MedDRA:10010452", "NCIT:C84683", "OMIM:616029", "OMIMPS:305100", "SCTID:8654005", "UMLS:C0013575"; "Ectodermal dysplasia", "congenital ectodermal defect", "ectodermal dysplasia", "ectodermal dysplasia (select examples)", "ectodermal dysplasia syndrome"; "Orphanet:79373"; , ; rdfs:label "Ectodermal dysplasia syndrome" . _:11e5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."; "Orphanet:79373" . _:11e5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:134757"; "MONDO:equivalentTo" . _:11e5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2121"; "MONDO:equivalentTo" . _:11e5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006317"; "MONDO:equivalentTo" . _:11e60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.31"; "MONDO:equivalentTo", "i2s" . _:11e61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004476"; "MONDO:equivalentTo", "ORDO:79373/e", "Orphanet:79373" . _:11e62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10010452"; "ORDO:79373/e", "Orphanet:79373" . _:11e63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84683"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.28" . _:11e64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616029"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11e65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:305100"; "DC:0000128", "DOID:2121", "MONDO:equivalentTo" . _:11e66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:8654005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11e67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013575"; "GARD:0006317", "MONDO:equivalentTo", "NCIT:C84683", "ORDO:79373/e", "Orphanet:79373" . _:11e68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital ectodermal defect"; "DOID:2121" . _:11e69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia"; "Orphanet:79373" . _:11e6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia (select examples)"; "OMIMPS:305100" . _:11e6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia syndrome"; rdfs:comment "preferred label from MONDO" . _:11e6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79373" . a owl:Class; rdfs:subClassOf ; rdfs:label "Dermis disorder"@en; "ORPHA:79377" . a owl:Class; rdfs:subClassOf ; rdfs:label "Dermis elastic tissue disorder"@en; "ORPHA:79378" . a owl:Class; rdfs:subClassOf ; rdfs:label "Other dermis disorder"@en; "ORPHA:79381" . a owl:Class; rdfs:subClassOf , ; "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes."; , , , ; , , , , , , ; ; "COHD:435839", "DOID:4977", "GARD:0012563", "ICD10:R22", "ICD9:457.1", "MESH:D008209", "MONDO:0019297", "MSH:D008209", "MedDRA:10025282", "NCIT:C3207", "SCTID:234097001", "UMLS:C0024236"; "lymphatic edema", "lymphatic edema (morphologic abnormality)", "lymphedema", "lymphoedema"; "lymphoedema NOS"; "Orphanet:79383"; ; rdfs:label "Lymphedema" . _:11e6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes."; "NCIT:C3207" . _:11e6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79383" . _:11e6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:435839"; "MONDO:equivalentTo" . _:11e70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4977"; "MONDO:equivalentTo" . _:11e71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012563"; "MONDO:equivalentTo" . _:11e72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:457.1"; "MONDO:relatedTo", "i2s" . _:11e73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D008209"; "DOID:4977", "MONDO:equivalentTo", "ORDO:79383/e", "Orphanet:79383" . _:11e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10025282"; "ORDO:79383/e", "Orphanet:79383" . _:11e75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3207"; "DOID:4977", "MONDO:equivalentTo", "exact-label-match" . _:11e76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234097001"; "DOID:4977", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:11e77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024236"; "DOID:4977", "MONDO:equivalentTo", "NCIT:C3207", "ORDO:79383/e", "Orphanet:79383" . _:11e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphatic edema"; "DOID:4977" . _:11e79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphatic edema (morphologic abnormality)"; "DOID:4977" . _:11e7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphedema"; rdfs:comment "preferred label from MONDO" . _:11e7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoedema"; "DOID:4977" . _:11e7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphoedema NOS"; "DOID:4977"; . _:11e7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79383" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0019299", "UMLS:CN205933"; "unclassified genetic skin disorder"; "Orphanet:79385"; ; rdfs:comment "Editor note: obsolete this"; rdfs:label "Unclassified genetic skin disorder" . _:11e7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205933"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11e7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "unclassified genetic skin disorder"; rdfs:comment "preferred label from MONDO" . _:11e80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79385" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare skin tumor or hamartoma"@en; "ORPHA:79386" . a owl:Class; rdfs:subClassOf , , , ; , ; "MONDO:0019301", "UMLS:CN205935"; "metabolic disease with skin involvement"; "Orphanet:79387"; ; rdfs:label "Metabolic disease with skin involvement", "Metabolic disease with skin involvement"@en; "ORPHA:79387" . _:11e81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN205935"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:11e82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease with skin involvement"; rdfs:comment "preferred label from MONDO" . _:11e83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79387" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0019302"; "MPS with skin involvement", "mucopolysaccharidosis with skin involvement"; "Orphanet:79388"; ; rdfs:label "Mucopolysaccharidosis with skin involvement" . _:11e84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPS with skin involvement"; "Orphanet:79388" . _:11e85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mucopolysaccharidosis with skin involvement"; rdfs:comment "preferred label from MONDO" . _:11e86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79388" . a owl:Class; rdfs:subClassOf , , ; "Changes in the organism associated with senescence, occurring at an accelerated rate."; , , , ; "MESH:D019588", "MONDO:0019303", "MSH:D019588", "MedDRA:10063493", "UMLS:C0231341"; "premature aging"; "Orphanet:79389"; ; rdfs:label "Premature aging" . _:11e87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Changes in the organism associated with senescence, occurring at an accelerated rate."; "MESH:D019588" . _:11e88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019588"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:79389/e", "Orphanet:79389" . _:11e89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063493"; "ORDO:79389/e", "Orphanet:79389" . _:11e8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "premature aging"; rdfs:comment "preferred label from MONDO" . _:11e8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79389" . a owl:Class; rdfs:subClassOf ; "Rare skin photosensitivity"@en; "UMLS:C0920193"; rdfs:label "Rare photodermatosis"@en; "ORPHA:79390" . _:11e8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0920193"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body."; , , , , , , , , , ; , , , ; "CIE"@en, "Erythrodermic ichthyosis"@en, "Non-bullous congenital ichthyosiform erythroderma"@en; "Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body."@en; "orphanet", "orphanet"@en; "DOID:1699", "HP:0007431", "ICD-10:Q80.2", "ICD10:Q80.2", "MONDO:0019306", "OMIM:242100", "OMIM:606545", "OMIM:612281", "OMIM:615022", "OMIM:615023", "OMIM:615024", "SCTID:205550003", "UMLS:C0079154"; "CIE", "Erythrodermic ichthyosis", "Non-bullous congenital ichthyosiform erythroderma", "alligator skin", "congenital ichthyosiform erythroderma", "congenital ichthyosiform erythroderma (disease)", "congenital non bullous ichthyosiform erythroderma", "congenital non-bullous ichthyosiform erythroderma", "erythrodermic ichthyosis", "ichthyosiform erythroderma", "lamellar ichthyosis", "non-bullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosiform erythroderma"; "lamellar desquamation of the newborn"; "Orphanet:79394"; ; rdfs:label "Congenital non-bullous ichthyosiform erythroderma", "Congenital non-bullous ichthyosiform erythroderma"@en; "ORPHA:79394" . _:11e8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body."; "Orphanet:79394" . _:11e8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1699"; "MONDO:equivalentTo" . _:11e8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0007431"; "MONDO:otherHierarchy", "ontobio" . _:11e90d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29359; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29359 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.2"; "Attributed"@en . _:11e91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q80.2"; "NTBT (narrower term maps to a broader term)"@en . _:11e92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q80.2"; "DOID:1699", "ORDO:79394/attributed", "ORDO:79394/ntbt", "Orphanet:79394" . _:11e93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:242100"; "BTNT (broader term maps to a narrower term)"@en . _:11e94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606545"; "BTNT (broader term maps to a narrower term)"@en . _:11e95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612281"; "BTNT (broader term maps to a narrower term)"@en . _:11e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615022"; "BTNT (broader term maps to a narrower term)"@en . _:11e97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615023"; "BTNT (broader term maps to a narrower term)"@en . _:11e98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615024"; "BTNT (broader term maps to a narrower term)"@en . _:11e99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:205550003"; "DOID:1699", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.84/0.13" . _:11e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079154"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11e9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CIE"; "Orphanet:79394" . _:11e9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alligator skin"; "DOID:1699" . _:11e9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital ichthyosiform erythroderma"; "MONDO:ambiguous" . _:11e9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital ichthyosiform erythroderma (disease)"; "MONDO:0002080" . _:11e9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital non bullous ichthyosiform erythroderma"; "DOID:1699" . _:11ea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital non-bullous ichthyosiform erythroderma"; rdfs:comment "preferred label from MONDO" . _:11ea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erythrodermic ichthyosis"; "Orphanet:79394" . _:11ea2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosiform erythroderma"; "DOID:1699", "MTHICD9_2006:757.1" . _:11ea3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lamellar ichthyosis"; "CSP2005:0726-9470", "DOID:1699" . _:11ea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-bullous congenital ichthyosiform erythroderma"; "Orphanet:79394" . _:11ea5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonbullous congenital ichthyosiform erythroderma"; "DOID:1699" . _:11ea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lamellar desquamation of the newborn"; "DOID:1699" . _:11ea7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79394" . a owl:Class; rdfs:subClassOf , , , ; "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity."; , , ; , , , , , ; "orphanet"; "DOID:3753", "GARD:0006643", "ICD10:E70.3", "ICD10:E70.331", "ICD9:270.2", "MESH:D022861", "MONDO:0019312", "MedDRA:10071775", "NCIT:C37261", "OMIM:203300", "OMIM:608233", "OMIM:614072", "OMIM:614073", "OMIM:614074", "OMIM:614075", "OMIM:614076", "OMIM:614077", "OMIM:614171", "OMIM:617050", "OMIMPS:203300", "SCTID:9311003"; "HPS", "HPS (Hermansky Pudlak syndrome)", "Hermansky-Pudlak syndrome"; "Hermansky Pudlak syndrome"; "Orphanet:79430"; ; rdfs:label "Hermansky-Pudlak syndrome" . _:11ea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity."; "Orphanet:79430" . _:11ea9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3753"; "MONDO:equivalentTo" . _:11eaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006643"; "MONDO:equivalentTo", "Orphanet-shared" . _:11eabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.3"; "MONDO:relatedTo", "ORDO:79430/inclusion", "ORDO:79430/ntbt", "Orphanet:79430" . _:11eacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.331"; "DOID:3753", "MONDO:equivalentTo" . _:11eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:270.2"; "MONDO:relatedTo", "i2s" . _:11eaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D022861"; "DOID:3753", "MONDO:equivalentTo", "MONDO:ontobio" . _:11eafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071775"; "ORDO:79430/e", "Orphanet:79430" . _:11eb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C37261"; "DOID:3753", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:11eb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617050"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:203300"; "MONDO:cjm", "MONDO:equivalentTo" . _:11eb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:9311003"; "DOID:3753", "MONDO:equivalentTo", "MONDO:kboom-pr-0.97/0.92/1.16" . _:11eb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPS"; "Orphanet:79430" . _:11eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPS (Hermansky Pudlak syndrome)"; "CSP2005:0446-1413", "DOID:3753" . _:11eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky-Pudlak syndrome"; rdfs:comment "preferred label from MONDO" . _:11eb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hermansky Pudlak syndrome"; "GARD:0006643" . _:11eb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79430" . a owl:Class; rdfs:subClassOf , ; "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)."; "AHO-PHP syndrome Ia"@en, "Albright hereditary osteodystrophy-PHP syndrome Ia"@en; "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)."@en; "orphanet", "orphanet"@en; "ICD-10:E20.1", "ICD10:E20.1", "OMIM:103580", "UMLS:C3494506"; "AHO - PHP Ia", "Albright hereditary osteodystrophy - PHP Ia"; rdfs:label "Pseudohypoparathyroidism type 1A", "Pseudohypoparathyroidism type 1A"@en; "ORPHA:79443" . _:11eb9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29401; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29401 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "Attributed"@en . _:11ebad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "NTBT (narrower term maps to a broader term)"@en . _:11ebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:103580"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3494506"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)."; ; , , , , ; "Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)."@en; "orphanet", "orphanet"@en; "GARD:0010681", "ICD-10:E20.1", "ICD10:E20.1", "MESH:C548076", "MONDO:0012911", "MSH:C548076", "MeSH:C548076", "OMIM:612462", "SCTID:717792007", "UMLS:C2932716"; "pseudohypoparathyroidism type 1C"; "PHP1C", "Php 1C", "pseudohypoparathyroidism, type 1C", "pseudohypoparathyroidism, type IC", "pseudohypoparathyroidism, type IC; PHP1C"; "Orphanet:79444"; , ; rdfs:label "Pseudohypoparathyroidism type 1C", "Pseudohypoparathyroidism type 1C"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c"^^xsd:anyURI; "ORPHA:79444" . _:11ebdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)."; "Orphanet:79444" . _:11ebed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010681"; "MONDO:equivalentTo" . _:11ebfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29408; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29408 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "Attributed"@en . _:11ec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "NTBT (narrower term maps to a broader term)"@en . _:11ec1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.1"; "MONDO:subClassOf", "ORDO:79444/attributed", "ORDO:79444/ntbt", "Orphanet:79444" . _:11ec2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C548076"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:79444/e", "Orphanet:79444" . _:11ec3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C548076"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ec4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612462"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ec5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612462"; "MONDO:equivalentTo", "ORDO:79444/e", "Orphanet:79444" . _:11ec6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717792007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11ec7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2932716"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ec8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2932716"; "MONDO:equivalentTo", "OMIM:612462", "ORDO:79444/e", "Orphanet:79444" . _:11ec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism type 1C"; rdfs:comment "preferred label from MONDO" . _:11ecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHP1C"; "MONDO:Lexical", "OMIM:612462" . _:11ecbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Php 1C"; "OMIM:612462" . _:11eccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type 1C"; "OMIM:612462" . _:11ecdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type IC"; "MONDO:Lexical", "OMIM:612462" . _:11eced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type IC; PHP1C"; "OMIM:612462" . _:11ecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010681" . _:11ed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79444" . _:11ed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c"^^xsd:anyURI; "GARD:0010681" . a owl:Class; rdfs:subClassOf , ; "Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)."; , ; , , , , , , , ; "AHO-PPHP syndrome"@en, "Albright hereditary osteodystrophy-PPHP syndrome"@en; "Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)."@en; "orphanet", "orphanet"@en; "DOID:4183", "GARD:0007860", "ICD-10:E20.1", "ICD10:E20.1", "ICD9:275.49", "MESH:D011556", "MONDO:0012912", "MSH:D011556", "MeSH:D011556", "NCIT:C129722", "OMIM:612463", "Orphanet:665", "SCTID:237659007", "UMLS:C0033835"; "AHO - PPHP", "Albright Hereditary osteodystrophy with Multiple hormone Resistance", "Albright hereditary osteodystrophy - PPHP", "Albright hereditary osteodystrophy-PPHP syndrome", "Normocalcemic pseudohypoparathyroidism", "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]", "aho-PPHP syndrome", "pseudopseudohypoparathyroidism"; "Albright hereditary osteodystrophy without multiple hormone resistance", "PPHP", "Pseudopseudo-hypoparathyroidism", "pseudo-pseudohypoparathyroidism", "pseudopseudohypoparathyroidism; PPHP"; "Orphanet:79445"; , ; rdfs:label "Pseudopseudohypoparathyroidism", "Pseudopseudohypoparathyroidism"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism"^^xsd:anyURI; "ORPHA:79445" . _:11ed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)."; "Orphanet:79445" . _:11ed3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4183"; "MONDO:equivalentTo" . _:11ed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007860"; "MONDO:equivalentTo" . _:11ed5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29431; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29431 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "Attributed"@en . _:11ed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "NTBT (narrower term maps to a broader term)"@en . _:11ed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.1"; "MONDO:subClassOf", "ORDO:79445/attributed", "ORDO:79445/ntbt", "Orphanet:79445" . _:11ed8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.49"; "MONDO:relatedTo", "i2s" . _:11ed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011556"; "DOID:4183", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:79445/e", "Orphanet:79445" . _:11edad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011556"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11edbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129722"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.40/0.68" . _:11edcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612463"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11eddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612463"; "DOID:4183", "MONDO:equivalentTo", "ORDO:79445/e", "Orphanet:79445" . _:11eded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:665"; "MONDO:equivalentObsolete", "OMIM:612463" . _:11edfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237659007"; "DOID:4183", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11ee0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033835"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ee1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033835"; "DOID:4183", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C129722", "OMIM:612463", "ORDO:79445/e", "Orphanet:79445" . _:11ee2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albright Hereditary osteodystrophy with Multiple hormone Resistance"; "NCIT:C129722" . _:11ee3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albright hereditary osteodystrophy-PPHP syndrome"; "Orphanet:79445" . _:11ee4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Normocalcemic pseudohypoparathyroidism"; "DOID:4183" . _:11ee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]"; "DOID:4183" . _:11ee6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aho-PPHP syndrome"; "Orphanet:79445" . _:11ee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudopseudohypoparathyroidism"; "MONDO:Lexical", "OMIM:612463" . _:11ee8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudopseudohypoparathyroidism"; rdfs:comment "preferred label from MONDO" . _:11ee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albright hereditary osteodystrophy without multiple hormone resistance"; "OMIM:612463" . _:11eead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPHP"; "MONDO:Lexical", "OMIM:612463" . _:11eebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudopseudo-hypoparathyroidism"; "GARD:0007860" . _:11eecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudo-pseudohypoparathyroidism"; "GARD:0007860" . _:11eedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudopseudohypoparathyroidism; PPHP"; "OMIM:612463" . _:11eeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007860" . _:11eefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79445" . _:11ef0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism"^^xsd:anyURI; "GARD:0007860" . a owl:Class; rdfs:subClassOf , , , ; "Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period."; , , , , ; , , , , ; "orphanet"; "DOID:0050580", "GARD:0007220", "ICD10:Q82.0", "ICD9:757.0", "MONDO:0019313", "OMIM:153100", "OMIM:247440", "OMIM:611944", "OMIM:613480", "OMIM:615907", "OMIMPS:153100", "SCTID:254199006", "SCTID:399889006", "UMLS:C1704423"; "Hereditary lymphedema type I", "Milroy's disease", "Milroy-like disease", "Nonne-Milroy lymphedema", "congenital primary lymphedema", "hereditary lymphedema", "hereditary lymphedema type I", "lymphedema, hereditary"; "Nonne-Milroy disease", "Nonne-Milroy syndrome", "Nonne’s syndrome", "congenital hereditary lymphedema", "early onset lymphedema", "hereditary lymphedema 1"; "Orphanet:79452"; ; rdfs:label "Milroy disease" . _:11ef1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period."; "Orphanet:79452" . _:11ef2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050580"; "MONDO:equivalentTo" . _:11ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007220"; "MONDO:equivalentTo", "Orphanet-shared" . _:11ef4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.0"; "MONDO:equivalentTo", "ORDO:79452/attributed", "ORDO:79452/ntbt", "Orphanet:79452" . _:11ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:757.0"; "DOID:0050580" . _:11ef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615907"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11ef7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:153100"; "MONDO:cjm", "MONDO:equivalentTo" . _:11ef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254199006"; "MONDO:equivalentTo" . _:11ef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:399889006"; "MONDO:equivalentTo" . _:11efad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Milroy's disease"; "DOID:0050580" . _:11efbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonne-Milroy lymphedema"; "DOID:0050580", "Orphanet:79452" . _:11efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital primary lymphedema"; "Orphanet:79452" . _:11efdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary lymphedema"; "MONDO:patterns/hereditary" . _:11efed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary lymphedema"; rdfs:comment "preferred label from MONDO" . _:11effd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary lymphedema type I"; "Orphanet:79452" . _:11f00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphedema, hereditary"; "OMIMPS:153100" . _:11f01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonne-Milroy disease"; "GARD:0007220" . _:11f02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonne-Milroy syndrome"; "GARD:0007220" . _:11f03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nonne’s syndrome"; "GARD:0007220" . _:11f04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital hereditary lymphedema"; "GARD:0007220" . _:11f05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early onset lymphedema"; "GARD:0007220" . _:11f06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary lymphedema 1"; "GARD:0007220" . _:11f07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79452" . a owl:Class; rdfs:subClassOf , ; "Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions."; , , ; , , , , , , ; "Protoporphyrinogen oxidase deficiency"@en, "Variegate porphyria"@en; "Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions."@en; "orphanet"@en; "DOID:4346", "GARD:0007848", "ICD-10:E80.2", "ICD10:E80.2", "MESH:D046350", "MONDO:0008297", "NCIT:C85219", "OMIM:176200", "SCTID:58275005", "UMLS:C0162532"; "Protocoproporphyria", "Protoporphyrinogen oxidase deficiency", "Variegate porphyria", "protoporphyrinogen oxidase deficiency", "variegate porphyria"; "PPOX deficiency", "VP", "porphyria variegata", "porphyria variegate", "porphyria, South African type", "variegate porphyria, homozygous variant"; "Orphanet:79473"; , ; rdfs:label "Porphyria variegata", "Porphyria variegata"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria"^^xsd:anyURI; "ORPHA:79473" . _:11f08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions."; "Orphanet:79473" . _:11f09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4346"; "MONDO:equivalentTo" . _:11f0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007848"; "MONDO:equivalentTo" . _:11f0bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29486; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29486 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "Attributed"@en . _:11f0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E80.2"; "NTBT (narrower term maps to a broader term)"@en . _:11f0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.2"; "ORDO:79473/attributed", "ORDO:79473/ntbt", "Orphanet:79473" . _:11f0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D046350"; "DOID:4346", "MONDO:equivalentTo" . _:11f0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85219"; "DOID:4346", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:11f10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:176200"; "DOID:4346", "MONDO:equivalentTo", "ORDO:79473/e", "Orphanet:79473" . _:11f12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:58275005"; "DOID:4346", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:11f13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162532"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162532"; "DOID:4346", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85219", "OMIM:176200", "Orphanet:79473" . _:11f15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Protocoproporphyria"; "DOID:4346", "MTHICD9_2006:277.1" . _:11f16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "protoporphyrinogen oxidase deficiency"; "DOID:4346", "OMIM:176200", "Orphanet:79473" . _:11f17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "variegate porphyria"; "OMIM:176200", "Orphanet:79473" . _:11f18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "variegate porphyria"; rdfs:comment "preferred label from MONDO" . _:11f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPOX deficiency"; "OMIM:176200" . _:11f1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VP"; "GARD:0007848" . _:11f1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria variegata"; "OMIM:176200" . _:11f1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria variegate"; "GARD:0007848" . _:11f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria, South African type"; "OMIM:176200" . _:11f1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "variegate porphyria, homozygous variant"; "OMIM:176200" . _:11f1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007848" . _:11f20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79473" . _:11f21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria"^^xsd:anyURI; "GARD:0007848" . a owl:Class; rdfs:subClassOf , , , , ; "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes ( mutations ) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood."; , , , , , ; "Griscelli-Pruniéras syndrome type 2"@en, "Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome"@en; "DOID:0060833", "GARD:0004483", "ICD-10:E70.3", "ICD10:E70.3", "MESH:C537302", "MONDO:0011872", "MSH:C537302", "MeSH:C537302", "NCIT:C111814", "OMIM:607624", "UMLS:C1868679"; "GS2", "Griscelli syndrome type 2", "Griscelli syndrome with hemophagocytic syndrome", "Griscelli-PruniC)ras syndrome type 2", "Griscelli-Pruniéras syndrome type 2", "Griscelli-Pruni��ras syndrome type 2", "Hypopigmentation - immunodeficiency with or without neurologic impairment", "PAID syndrome", "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome", "partial albinism and immunodeficiency syndrome"; "Griscelli disease type 2", "Griscelli syndrome, type 2", "Griscelli syndrome, type 2; GS2", "Paid syndrome"; "Orphanet:79477"; , ; rdfs:label "Griscelli disease type 2", "Griscelli syndrome type 2"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2"^^xsd:anyURI; "ORPHA:79477" . _:11f22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes ( mutations ) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood."; "https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2" . _:11f23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060833"; "MONDO:equivalentTo" . _:11f24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004483"; "MONDO:equivalentTo" . _:11f25d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29513; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29513 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.3"; "Attributed"@en . _:11f26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.3"; "NTBT (narrower term maps to a broader term)"@en . _:11f27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.3"; "DOID:0060833", "MONDO:relatedTo", "ORDO:79477/attributed", "ORDO:79477/ntbt", "Orphanet:79477" . _:11f28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537302"; "DOID:0060833", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:79477/e", "Orphanet:79477" . _:11f29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537302"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C111814"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:11f2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607624"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607624"; "DOID:0060833", "MONDO:equivalentTo", "ORDO:79477/e", "Orphanet:79477" . _:11f2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1868679"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1868679"; "DOID:0060833", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C111814", "OMIM:607624", "ORDO:79477/e", "Orphanet:79477" . _:11f2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GS2"; "DOID:0060833", "MONDO:Lexical", "OMIM:607624" . _:11f30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli syndrome type 2"; rdfs:comment "preferred label from MONDO" . _:11f31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli syndrome with hemophagocytic syndrome"; "DOID:0060833" . _:11f32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli-PruniC)ras syndrome type 2"; "Orphanet:79477" . _:11f33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli-Pruniéras syndrome type 2"; "DOID:0060833" . _:11f34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli-Pruni��ras syndrome type 2"; "DOID:0060833" . _:11f35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAID syndrome"; "DOID:0060833" . _:11f36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome"; "DOID:0060833", "Orphanet:79477" . _:11f37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial albinism and immunodeficiency syndrome"; "DOID:0060833", "OMIM:607624" . _:11f38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli disease type 2"; "Orphanet:79477" . _:11f39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli syndrome, type 2"; "MONDO:Lexical", "OMIM:607624" . _:11f3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Griscelli syndrome, type 2; GS2"; "OMIM:607624" . _:11f3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paid syndrome"; "OMIM:607624" . _:11f3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004483" . _:11f3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79477" . _:11f3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2"^^xsd:anyURI; "GARD:0004483" . a owl:Class; rdfs:subClassOf , , ; , ; "Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency"@en; "A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0019333", "OMIM:256450", "UMLS:CN206002"; "Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency", "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency", "autosomal recessive hyperinsulinism due to SUR1 deficiency"; "Orphanet:79643"; ; rdfs:label "Autosomal recessive hyperinsulinism due to SUR1 deficiency", "Autosomal recessive hyperinsulinism due to SUR1 deficiency"@en; "ORPHA:79643" . _:11f3fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29540; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29540 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:11f40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:11f41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:79643/attributed", "ORDO:79643/ntbt", "Orphanet:79643" . _:11f42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256450"; "NTBT (narrower term maps to a broader term)"@en . _:11f43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206002"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:11f44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency"; "Orphanet:79643" . _:11f45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive hyperinsulinism due to SUR1 deficiency"; rdfs:comment "preferred label from MONDO" . _:11f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79643" . a owl:Class; rdfs:subClassOf , , ; , ; "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"@en; "A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated."@en; "orphanet"@en; "ICD-10:E16.1", "ICD10:E16.1", "MONDO:0019334", "OMIM:601820", "UMLS:CN206003"; "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "autosomal recessive hyperinsulinism due to Kir6.2 deficiency"; "Orphanet:79644"; ; rdfs:label "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency", "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency"@en; "ORPHA:79644" . _:11f47d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29549; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29549 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "Attributed"@en . _:11f48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E16.1"; "NTBT (narrower term maps to a broader term)"@en . _:11f49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E16.1"; "ORDO:79644/attributed", "ORDO:79644/ntbt", "Orphanet:79644" . _:11f4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601820"; "NTBT (narrower term maps to a broader term)"@en . _:11f4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206003"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:11f4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"; "Orphanet:79644" . _:11f4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive hyperinsulinism due to Kir6.2 deficiency"; rdfs:comment "preferred label from MONDO" . _:11f4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:79644" . a owl:Class; rdfs:subClassOf , , , ; "Disease involving abnormal collections of inflammatory cells that form lumps known as granulomas. The disease usually begins in the lungs, skin, or lymph nodes.", "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs."; "Annalisa Buniello"; ; , , , , , , ; , , , , , , , , , ; "Besnier-Boeck-Schaumann disease"@en, "Boeck sarcoid"@en, "Boeck's sarcoid"@en; "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs."@en; "PMID:26651848", "orphanet"@en; "true"; "COHD:438688", "DOID:11335", "ICD-10:D86.0", "ICD-10:D86.1", "ICD-10:D86.2", "ICD-10:D86.3", "ICD-10:D86.8", "ICD-10:D86.9", "ICD10:D80-D89", "ICD10:D86", "ICD10:D86.0", "ICD10:D86.1", "ICD10:D86.2", "ICD10:D86.3", "ICD10:D86.8", "ICD10:D86.9", "ICD9:135", "MESH:D012507", "MONDO:0019338", "MSH:D012507", "MeSH:D012507", "MedDRA:10039486", "NCIT:C34995", "OMIM:181000", "OMIM:612387", "OMIM:612388", "SCTID:31541009", "UMLS:C0036202"; "Besnier-Boeck-Schaumann disease", "Boeck sarcoid", "Boeck's sarcoid", "Boeck's sarcoidosis", "Darier-Roussy sarcoid", "besnier-Boeck-Schaumann syndrome", "lymphogranulomatosis", "sarcoid", "sarcoidosis"; "benign lymphogranulomatosis of Schaumann", "lupus pernio of Besnier", "miliary lupoid of boeck"; "Orphanet:797"; ; rdfs:comment "Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease"; rdfs:label "Sarcoidosis", "Sarcoidosis"@en; "ORPHA:797" . _:11f4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Disease involving abnormal collections of inflammatory cells that form lumps known as granulomas. The disease usually begins in the lungs, skin, or lymph nodes."; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11f50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs."; "Orphanet:797" . _:11f51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Annalisa Buniello"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11f52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:11335" . _:11f53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C34995" . _:11f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . _:11f55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . _:11f56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . _:11f57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . _:11f58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . _:11f59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . _:11f5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . _:11f5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . _:11f5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26651848"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11f5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:438688"; "MONDO:equivalentTo" . _:11f5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11335"; "MONDO:equivalentTo" . _:11f5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D86.0"; "BTNT (broader term maps to a narrower term)"@en . _:11f60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D86.1"; "BTNT (broader term maps to a narrower term)"@en . _:11f61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D86.2"; "BTNT (broader term maps to a narrower term)"@en . _:11f62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D86.3"; "BTNT (broader term maps to a narrower term)"@en . _:11f63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D86.8"; "BTNT (broader term maps to a narrower term)"@en . _:11f64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D86.9"; "BTNT (broader term maps to a narrower term)"@en . _:11f65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D80-D89"; "DOID:11335" . _:11f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D86"; "DOID:11335" . _:11f67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D86.0"; "ORDO:797/btnt", "Orphanet:797" . _:11f68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D86.1"; "ORDO:797/btnt", "Orphanet:797" . _:11f69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D86.2"; "ORDO:797/btnt", "Orphanet:797" . _:11f6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D86.3"; "MONDO:superClassOf", "ORDO:797/btnt", "Orphanet:797" . _:11f6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D86.8"; "ORDO:797/btnt", "Orphanet:797" . _:11f6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D86.9"; "DOID:11335", "ORDO:797/btnt", "Orphanet:797" . _:11f6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:135"; "DOID:11335", "MONDO:superClassOf", "linkedlifedata" . _:11f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D012507"; "DOID:11335", "MONDO:equivalentTo", "ORDO:797/e", "Orphanet:797" . _:11f6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012507"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10039486"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10039486"; "ORDO:797/e", "Orphanet:797" . _:11f72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34995"; "DOID:11335", "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.70/0.88" . _:11f73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:181000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612387"; "BTNT (broader term maps to a narrower term)"@en . _:11f75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612388"; "BTNT (broader term maps to a narrower term)"@en . _:11f76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:31541009"; "DOID:11335", "MONDO:equivalentTo", "MONDO:superClassOf" . _:11f77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036202"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036202"; "DOID:11335", "MONDO:equivalentTo", "NCIT:C34995", "ORDO:797/e", "Orphanet:797" . _:11f79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Besnier-Boeck-Schaumann disease"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11f7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Besnier-Boeck-Schaumann disease"; "Orphanet:797" . _:11f7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Boeck sarcoid"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11f7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Boeck sarcoid"; "DOID:11335", "Orphanet:797" . _:11f7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Boeck's sarcoid"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:11f7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Boeck's sarcoid"; "Orphanet:797" . _:11f7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lymphogranulomatosis"; "CSP2005:2024-3715", "DOID:11335" . _:11f80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sarcoid"; "NCIT:C34995" . _:11f81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sarcoidosis"; rdfs:comment "preferred label from MONDO" . _:11f82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:797" . a owl:Class; rdfs:subClassOf , , , , , ; "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.", "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies."; ; , , , , , , ; "SGS"@en; "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies."@en; "orphanet", "orphanet"@en; "GARD:0000117", "ICD-10:Q87.0", "ICD10:Q87.0", "ICD9:759.89", "MESH:C536632", "MONDO:0010010", "MedDRA:10063540", "NCIT:C129308", "OMIM:269150", "SCTID:18899000", "UMLS:C0265227"; "SGS", "Schinzel-Giedion midface-retraction syndrome", "Schinzel-Giedion syndrome"; "Schinzel Giedion midface-retraction syndrome", "Schinzel Giedion syndrome", "Schinzel-Giedion midface retraction syndrome", "Sgs"; "Orphanet:798"; , ; rdfs:label "Schinzel-Giedion syndrome", "Schinzel-Giedion syndrome"@en; "ORPHA:798" . _:11f83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies."; "Orphanet:798" . _:11f84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000117"; "MONDO:equivalentTo" . _:11f85d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29612; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "Attributed"@en . _:11f86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "NTBT (narrower term maps to a broader term)"@en . _:11f87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.0"; "ORDO:798/attributed", "ORDO:798/ntbt", "Orphanet:798" . _:11f88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:11f89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536632"; "MONDO:equivalentTo", "MONDO:ontobio" . _:11f8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063540"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063540"; "ORDO:798/e", "Orphanet:798" . _:11f8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129308"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.37/0.53" . _:11f8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:269150"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:269150"; "GARD:0000117", "MONDO:equivalentTo", "ORDO:798/e", "Orphanet:798" . _:11f8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:18899000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:11f90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265227"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11f91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265227"; "MONDO:equivalentTo", "NCIT:C129308", "OMIM:269150", "ORDO:798/e", "Orphanet:798" . _:11f92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGS"; "Orphanet:798" . _:11f93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schinzel-Giedion midface-retraction syndrome"; "NCIT:C129308" . _:11f94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schinzel-Giedion syndrome"; "GARD:0000117" . _:11f95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schinzel-Giedion syndrome"; rdfs:comment "preferred label from MONDO" . _:11f96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schinzel Giedion midface-retraction syndrome"; "GARD:0000117" . _:11f97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schinzel Giedion syndrome"; "GARD:0000117" . _:11f98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schinzel-Giedion midface retraction syndrome"; "OMIM:269150" . _:11f99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sgs"; "OMIM:269150" . _:11f9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:798" . a owl:Class; rdfs:subClassOf , , , ; "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation."; ; , , , ; "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation."@en; "orphanet", "orphanet"@en; "GARD:0000166", "ICD-10:Q04.6", "ICD10:Q04.6", "ICD9:742.4", "MONDO:0010011", "NCIT:C99056", "OMIM:269160", "SCTID:253159001", "UMLS:C0266484"; "schizencephaly"; "Orphanet:799"; , ; rdfs:label "Schizencephaly", "Schizencephaly"@en; "ORPHA:799" . _:11f9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation."; "Orphanet:799" . _:11f9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000166"; "MONDO:equivalentTo" . _:11f9dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29637; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29637 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.6"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11f9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.6"; "NTBT (narrower term maps to a broader term)"@en . _:11f9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.6"; "ORDO:799/inclusion", "ORDO:799/ntbt", "Orphanet:799" . _:11fa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:742.4"; "MONDO:relatedTo", "i2s" . _:11fa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99056"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:11fa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:269160"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:269160"; "GARD:0000166", "MONDO:equivalentTo", "ORDO:799/e", "Orphanet:799" . _:11fa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:253159001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:11fa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266484"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "schizencephaly"; "OMIM:269160" . _:11fa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "schizencephaly"; rdfs:comment "preferred label from MONDO" . _:11fa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:799" . a owl:Class; rdfs:subClassOf ; "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms)."@en; "orphanet"@en; "MedDRA:10039710", "UMLS:C0011644", "UMLS:C0852007"; rdfs:label "Scleroderma"@en; "ORPHA:801" . _:11fa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10039710"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11faad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0011644"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0852007"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ALS"@en, "Charcot disease"@en, "Lou Gehrig disease"@en; "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord."@en; "orphanet"@en; "ICD-10:G12.2", "MeSH:D000690", "MedDRA:10002026", "OMIM:105400", "OMIM:205250", "OMIM:300857", "OMIM:606070", "OMIM:606640", "OMIM:608030", "OMIM:608031", "OMIM:608627", "OMIM:611895", "OMIM:612069", "OMIM:612577", "OMIM:613435", "OMIM:613954", "OMIM:614696", "OMIM:614808", "OMIM:615426", "OMIM:615515", "OMIM:616208", "OMIM:616437", "OMIM:617839", "OMIM:617892", "UMLS:C0002736"; rdfs:label "Amyotrophic lateral sclerosis"@en; "ORPHA:803" . _:11facd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G12.2"; "NTBT (narrower term maps to a broader term)"@en . _:11fadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000690"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11faed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002026"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:105400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:205250"; "BTNT (broader term maps to a narrower term)"@en . _:11fb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300857"; "BTNT (broader term maps to a narrower term)"@en . _:11fb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606070"; "BTNT (broader term maps to a narrower term)"@en . _:11fb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606640"; "BTNT (broader term maps to a narrower term)"@en . _:11fb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608030"; "BTNT (broader term maps to a narrower term)"@en . _:11fb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608031"; "BTNT (broader term maps to a narrower term)"@en . _:11fb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608627"; "BTNT (broader term maps to a narrower term)"@en . _:11fb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611895"; "BTNT (broader term maps to a narrower term)"@en . _:11fb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612069"; "BTNT (broader term maps to a narrower term)"@en . _:11fb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612577"; "BTNT (broader term maps to a narrower term)"@en . _:11fbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613435"; "BTNT (broader term maps to a narrower term)"@en . _:11fbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613954"; "BTNT (broader term maps to a narrower term)"@en . _:11fbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614696"; "BTNT (broader term maps to a narrower term)"@en . _:11fbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614808"; "BTNT (broader term maps to a narrower term)"@en . _:11fbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615426"; "BTNT (broader term maps to a narrower term)"@en . _:11fbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615515"; "BTNT (broader term maps to a narrower term)"@en . _:11fc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616208"; "BTNT (broader term maps to a narrower term)"@en . _:11fc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616437"; "BTNT (broader term maps to a narrower term)"@en . _:11fc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617839"; "BTNT (broader term maps to a narrower term)"@en . _:11fc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617892"; "BTNT (broader term maps to a narrower term)"@en . _:11fc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002736"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , , , , , , ; "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade."; , , ; , , , ; "Bourneville syndrome"@en, "Tuberous sclerosis"@en; "Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features."@en; "orphanet"@en; "DOID:13515", "ICD-10:Q85.1", "ICD10:Q85.1", "ICD9:759.5", "MESH:D014402", "MSH:D014402", "MeSH:D014402", "MedDRA:10045138", "NCIT:C3424", "OMIM:191100", "OMIM:613254", "OMIMPS:191100", "SCTID:7199000", "UMLS:C0041341"; "Bourneville syndrome", "Bourneville's disease", "Epiloia", "TSC", "Tuberous sclerosis complex", "cerebral sclerosis", "tuberose sclerosis", "tuberous sclerosis", "tuberous sclerosis syndrome"; "Bourneville Phacomatosis", "Bourneville disease", "Bourneville phakomatosis", "Bourneville pringle disease", "Bourneville pringle's disease", "Bourneville syndrome", "Bourneville's syndrome", "Bourneville-Pringles disease", "Bourneville-pringle disease", "Bourneville-pringle's disease", "Phacomatosis, Bourneville", "adenoma sebaceum", "adenoma sebaceum syndrome", "bourneville's disease", "cerebral Scleroses", "disease, Bourneville-pringle", "disease, Bourneville-pringle's", "phakomatosis, Bourneville", "sclerosis Tuberosa", "sclerosis, cerebral", "sclerosis, tuberose", "sclerosis, tuberous", "syndrome, Bourneville", "syndrome, Bourneville's", "ts - tuberous sclerosis", "tuberous sclerosis Complex"; "Orphanet:805"; ; rdfs:comment "Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome"; rdfs:label "Tuberous sclerosis", "Tuberous sclerosis complex"@en; "ORPHA:805" . _:11fc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade."; "NCIT:P378" . _:11fc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13515"; "MONDO:equivalentTo" . _:11fc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fc8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29681; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29681 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.1"; "Specific code (The term has its own code in the ICD10)"@en . _:11fc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.1"; "DOID:13515" . _:11fcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.5"; "DOID:13515", "MONDO:equivalentTo", "i2s" . _:11fcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014402"; "DOID:13515", "MONDO:equivalentTo" . _:11fccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014402"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10045138"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3424"; "DOID:13515", "MONDO:equivalentTo", "MONDO:kboom-pr-0.96/0.79/2.02" . _:11fcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:191100"; "BTNT (broader term maps to a narrower term)"@en . _:11fd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613254"; "BTNT (broader term maps to a narrower term)"@en . _:11fd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:191100"; "MONDO:cjm", "MONDO:equivalentTo" . _:11fd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:7199000"; "DOID:13515", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.17" . _:11fd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0041341"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11fd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville's disease"; "DOID:13515", "NCIT:C3424" . _:11fd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epiloia"; "DOID:13515", "MESH:D014402", "MTHICD9_2006:759.5" . _:11fd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TSC"; "NCIT:C3424" . _:11fd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral sclerosis"; "CSP2005:0727-2535", "DOID:13515" . _:11fd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tuberose sclerosis"; "DOID:13515" . _:11fd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tuberous sclerosis"; "DOID:13515", "ICD9CM_2006:759.5" . _:11fdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tuberous sclerosis"; rdfs:comment "preferred label from MONDO" . _:11fdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tuberous sclerosis syndrome"; "NCIT:C3424" . _:11fdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville Phacomatosis"; "MESH:D014402" . _:11fddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville disease"; "MESH:D014402" . _:11fded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville phakomatosis"; "MESH:D014402" . _:11fdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville pringle disease"; "MESH:D014402" . _:11fe0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville pringle's disease"; "MESH:D014402" . _:11fe1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville syndrome"; "MESH:D014402" . _:11fe2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville's syndrome"; "MESH:D014402" . _:11fe3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville-Pringles disease"; "MESH:D014402" . _:11fe4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville-pringle disease"; "MESH:D014402" . _:11fe5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bourneville-pringle's disease"; "MESH:D014402" . _:11fe6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phacomatosis, Bourneville"; "MESH:D014402" . _:11fe7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenoma sebaceum"; "MESH:D014402" . _:11fe8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral Scleroses"; "MESH:D014402" . _:11fe9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, Bourneville-pringle"; "MESH:D014402" . _:11fead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, Bourneville-pringle's"; "MESH:D014402" . _:11febd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phakomatosis, Bourneville"; "MESH:D014402" . _:11fecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sclerosis Tuberosa"; "MESH:D014402" . _:11fedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sclerosis, cerebral"; "MESH:D014402" . _:11feed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sclerosis, tuberose"; "MESH:D014402" . _:11fefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sclerosis, tuberous"; "MESH:D014402" . _:11ff0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, Bourneville"; "MESH:D014402" . _:11ff1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome, Bourneville's"; "MESH:D014402" . _:11ff2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tuberous sclerosis Complex"; "MESH:D014402" . a owl:Class; rdfs:subClassOf , , ; "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance."; , , , , , ; "Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability."@en; "orphanet"@en; "DOID:0050569", "GARD:0008562", "ICD-10:Q87.1", "ICD10:Q87.1", "ICD9:759.89", "MONDO:0019342", "MSH:C537533", "MeSH:C537533", "NCIT:C125488", "OMIM:210600", "OMIM:600546", "OMIM:606744", "OMIM:608664", "OMIM:613676", "OMIM:613823", "OMIM:614728", "OMIM:615807", "OMIM:616051", "OMIM:616171", "OMIM:616777", "OMIM:617253", "OMIMPS:210600", "SCTID:57917004", "UMLS:C0265202"; "Harper's syndrome", "SCKL", "Seckel syndrome", "Seckel-type Dwarfism", "Virchow-Seckel dwarfism", "bird-headed dwarfism", "microcephalic primordial dwarfism", "nanocephalic Dwarfism"; "Orphanet:808"; ; rdfs:label "Seckel syndrome", "Seckel syndrome"@en; "ORPHA:808" . _:11ff3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance."; "NCIT:C125488" . _:11ff4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050569"; "MONDO:equivalentTo" . _:11ff5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008562"; "MONDO:equivalentTo", "Orphanet-shared" . _:11ff6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29728; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29728 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:11ff7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:11ff8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "DOID:0050569", "ORDO:808/inclusion", "ORDO:808/ntbt", "Orphanet:808" . _:11ff9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:11ffad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537533"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:11ffbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C125488"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.68/1.66" . _:11ffcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:210600"; "BTNT (broader term maps to a narrower term)"@en . _:11ffdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600546"; "BTNT (broader term maps to a narrower term)"@en . _:11ffed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606744"; "BTNT (broader term maps to a narrower term)"@en . _:11fffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613676"; "BTNT (broader term maps to a narrower term)"@en . _:12000d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613823"; "BTNT (broader term maps to a narrower term)"@en . _:12001d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615807"; "BTNT (broader term maps to a narrower term)"@en . _:12002d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615807"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12003d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616051"; "ND (not yet decided/unable to decide)"@en . _:12004d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616171"; "ND (not yet decided/unable to decide)"@en . _:12005d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616171"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12006d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616777"; "BTNT (broader term maps to a narrower term)"@en . _:12007d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616777"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12008d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617253"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12009d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:210600"; "MONDO:cjm", "MONDO:equivalentTo" . _:1200ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:57917004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:1200bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265202"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1200cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265202"; "MONDO:equivalentTo", "NCIT:C125488", "ORDO:808/e", "Orphanet:808" . _:1200dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Harper's syndrome"; "DOID:0050569" . _:1200ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCKL"; "NCIT:C125488" . _:1200fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Seckel syndrome"; rdfs:comment "preferred label from MONDO" . _:12010d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Seckel-type Dwarfism"; "NCIT:C125488" . _:12011d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Virchow-Seckel dwarfism"; "DOID:0050569" . _:12012d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bird-headed dwarfism"; "DOID:0050569" . _:12013d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcephalic primordial dwarfism"; "DOID:0050569" . _:12014d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nanocephalic Dwarfism"; "NCIT:C125488" . _:12015d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:808" . a owl:Class; rdfs:subClassOf ; "MCTD"@en, "Sharp syndrome"@en; "Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA)."@en; "orphanet"@en; "ICD-10:M35.1", "MeSH:D008947", "MedDRA:10027754", "UMLS:C0026272"; rdfs:label "Mixed connective tissue disease"@en; "ORPHA:809" . _:12016d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M35.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12017d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008947"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12018d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027754"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12019d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026272"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation."; ; , , , , , , ; "Pancreatic insufficiency and bone marrow dysfunction"@en, "SDS"@en, "Shwachman syndrome"@en, "Shwachman-Bodian-Diamond syndrome"@en; "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation."@en; "orphanet", "orphanet"@en; "MONDO:0000843"; "DOID:0060479", "DOID:0080023", "GARD:0004863", "ICD-10:D61.0", "ICD10:D61.0", "MESH:C537330", "MONDO:0009833", "MedDRA:10067940", "NCIT:C61235", "OMIM:260400", "OMIM:617941", "OMIMPS:260400", "SCTID:89454001", "UMLS:C0272170"; "Pancreatic insufficiency and bone marrow dysfunction", "SDS", "Schwachman-Diamond syndrome", "Schwachmann-Diamond syndrome", "Shwachman syndrome", "Shwachman-Bodian-Diamond syndrome", "Shwachman-Diamond syndrome", "pancreatic insufficiency and bone marrow dysfunction"; "Shwachman-Bodian syndrome", "Shwachman-Diamond syndrome; SDS", "Shwachman-Diamond type metaphyseal dysplasia", "congenital lipomatosis of pancreas", "lipomatosis of pancreas, congenital"; "Orphanet:811"; , ; rdfs:label "Shwachman-Diamond syndrome", "Shwachman-Diamond syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome"^^xsd:anyURI; "ORPHA:811" . _:1201ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation."; "Orphanet:811" . _:1201bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060479"; "MONDO:equivalentTo" . _:1201cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080023"; "MONDO:equivalentTo" . _:1201dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004863"; "MONDO:equivalentTo" . _:1201ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29769; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29769 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D61.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1201fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D61.0"; "NTBT (narrower term maps to a broader term)"@en . _:12020d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D61.0"; "DOID:0060479", "MONDO:subClassOf", "ORDO:811/inclusion", "ORDO:811/ntbt", "Orphanet:811" . _:12021d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537330"; "DOID:0060479", "MONDO:equivalentTo", "MONDO:ontobio" . _:12022d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067940"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12023d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067940"; "ORDO:811/e", "Orphanet:811" . _:12024d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61235"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12025d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:260400"; "BTNT (broader term maps to a narrower term)"@en . _:12026d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617941"; "BTNT (broader term maps to a narrower term)"@en . _:12027d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:260400"; "MONDO:equivalentTo" . _:12028d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:89454001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.78" . _:12029d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0272170"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1202ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDS"; "MONDO:Lexical", "OMIM:260400", "Orphanet:811" . _:1202bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schwachman-Diamond syndrome"; "OMIMPS:260400" . _:1202cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schwachmann-Diamond syndrome"; "NCIT:C61235" . _:1202dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shwachman syndrome"; "DOID:0060479", "Orphanet:811" . _:1202ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shwachman-Bodian-Diamond syndrome"; "DOID:0060479", "Orphanet:811" . _:1202fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shwachman-Diamond syndrome"; "MONDO:Lexical", "OMIM:260400" . _:12030d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shwachman-Diamond syndrome"; rdfs:comment "preferred label from MONDO" . _:12031d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic insufficiency and bone marrow dysfunction"; "DOID:0060479", "Orphanet:811" . _:12032d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shwachman-Bodian syndrome"; "OMIM:260400" . _:12033d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shwachman-Diamond syndrome; SDS"; "OMIM:260400" . _:12034d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shwachman-Diamond type metaphyseal dysplasia"; "DOID:0080023" . _:12035d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipomatosis of pancreas"; "GARD:0004863" . _:12036d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipomatosis of pancreas, congenital"; "OMIM:260400" . _:12037d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0004863" . _:12038d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:811" . _:12039d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome"^^xsd:anyURI; "GARD:0004863" . a owl:Class; rdfs:subClassOf , , , , , ; "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry."; , , , , , , , ; "Silver-Russell dwarfism"@en; "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry."@en; "orphanet"@en; "DOID:14681", "GARD:0004870", "ICD-10:Q87.1", "ICD10:Q87.1", "ICD9:759.89", "MESH:D056730", "MONDO:0008394", "MSH:D056730", "MeSH:D056730", "MedDRA:10062282", "NCIT:C85068", "OMIM:180860", "OMIM:312780", "OMIM:616489", "SCTID:15069006", "UMLS:C0175693"; "Russell-Silver dwarfism", "Silver Russell dwarfism", "Silver-Russell dwarfism", "Silver-Russell syndrome"; "Russell Silver syndrome", "Russell-Silver syndrome", "SILVER-RUSSELL syndrome; SRS", "SRS", "Silver Russell syndrome"; "Orphanet:813"; ; rdfs:label "Silver-Russell syndrome", "Silver-Russell syndrome"@en; "ORPHA:813" . _:1203ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry."; "Orphanet:813" . _:1203bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14681"; "MONDO:equivalentTo" . _:1203cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004870"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:1203dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29801; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29801 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1203ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:1203fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "DOID:14681", "ORDO:813/inclusion", "ORDO:813/ntbt", "Orphanet:813" . _:12040d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:12041d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D056730"; "DOID:14681", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:813/e", "Orphanet:813" . _:12042d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D056730"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12043d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062282"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12044d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062282"; "ORDO:813/e", "Orphanet:813" . _:12045d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85068"; "DOID:14681", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:12046d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180860"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12047d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:180860"; "DOID:14681", "MONDO:equivalentTo", "ORDO:813/e", "Orphanet:813" . _:12048d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312780"; "BTNT (broader term maps to a narrower term)"@en . _:12049d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616489"; "BTNT (broader term maps to a narrower term)"@en . _:1204ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616489"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1204bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:15069006"; "DOID:14681", "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.44/0.12" . _:1204cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175693"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1204dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175693"; "DOID:14681", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85068", "OMIM:180860", "ORDO:813/e", "Orphanet:813" . _:1204ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Russell-Silver dwarfism"; "NCIT:C85068" . _:1204fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver Russell dwarfism"; "DOID:14681" . _:12050d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell dwarfism"; "OMIM:180860", "Orphanet:813" . _:12051d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome"; "MONDO:Lexical", "OMIM:180860" . _:12052d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome"; rdfs:comment "preferred label from MONDO" . _:12053d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Russell Silver syndrome"; "GARD:0004870" . _:12054d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Russell-Silver syndrome"; "OMIM:180860" . _:12055d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SILVER-RUSSELL syndrome; SRS"; "OMIM:180860" . _:12056d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRS"; "MONDO:Lexical", "OMIM:180860" . _:12057d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver Russell syndrome"; "GARD:0004870" . _:12058d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:813" . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity."; ; , , , , , , , ; "Fatty acid alcohol oxidoreductase deficiency"@en; "Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity."@en; "orphanet"@en; "DOID:14501", "EFO:0007031", "GARD:0007654", "ICD-10:Q87.1", "ICD10:E71.3", "ICD10:Q87.1", "MESH:D016111", "MONDO:0010031", "MSH:D016111", "MeSH:D016111", "MedDRA:10048676", "NCIT:C85070", "OMIM:270200", "SCTID:111303009", "UMLS:C0037231"; "Fatty acid alcohol oxidoreductase deficiency", "Sjogren Larsson syndrome", "Sjogren-Larsson syndrome", "Sjogren-Larsson's syndrome", "fatty acid alcohol oxidoreductase deficiency"; "FADH deficiency", "FALDH deficiency", "FAO deficiency", "SLS", "Sjogren-Larsson syndrome; SLS", "Sjögren-Larsson syndrome", "fatty alcohol:NAD+ oxidoreductase deficiency", "fatty aldehyde dehydrogenase deficiency", "ichthyosis, spastic neurologic disorder, and oligophrenia"; "Orphanet:816"; , ; rdfs:label "Sjögren-Larsson syndrome", "Sjögren-Larsson syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome"^^xsd:anyURI; "ORPHA:816" . _:12059d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity."; "Orphanet:816" . _:1205ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14501"; "MONDO:equivalentTo" . _:1205bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0007031"; "MONDO:equivalentTo" . _:1205cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007654"; "MONDO:equivalentTo" . _:1205dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1205ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29835; owl:annotatedProperty ; owl:annotatedTarget "Index term"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29835 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Index term"@en . _:1205fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:816/e", "ORDO:816/index", "Orphanet:816" . _:12060d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D016111"; "DOID:14501", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:816/e", "Orphanet:816" . _:12061d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016111"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12062d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048676"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12063d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048676"; "ORDO:816/e", "Orphanet:816" . _:12064d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85070"; "DOID:14501", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12065d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:270200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12066d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:270200"; "DOID:14501", "MONDO:equivalentTo", "ORDO:816/e", "Orphanet:816" . _:12067d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:111303009"; "DOID:14501", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.39" . _:12068d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037231"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12069d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0037231"; "DOID:14501", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85070", "OMIM:270200", "ORDO:816/e", "Orphanet:816" . _:1206ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sjogren Larsson syndrome"; "CSP2005:0726-9470", "CSP2005:1840-2225", "CSP2005:2057-3666", "DOID:14501" . _:1206bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sjogren-Larsson syndrome"; "MONDO:Lexical", "OMIM:270200" . _:1206cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sjogren-Larsson syndrome"; rdfs:comment "preferred label from MONDO" . _:1206dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sjogren-Larsson's syndrome"; "DOID:14501" . _:1206ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fatty acid alcohol oxidoreductase deficiency"; "Orphanet:816" . _:1206fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FADH deficiency"; "GARD:0007654" . _:12070d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FALDH deficiency"; "OMIM:270200" . _:12071d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAO deficiency"; "GARD:0007654" . _:12072d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLS"; "MONDO:Lexical", "OMIM:270200" . _:12073d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sjogren-Larsson syndrome; SLS"; "OMIM:270200" . _:12074d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sjögren-Larsson syndrome"; "GARD:0007654" . _:12075d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fatty alcohol:NAD+ oxidoreductase deficiency"; "OMIM:270200" . _:12076d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fatty aldehyde dehydrogenase deficiency"; "OMIM:270200" . _:12077d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis, spastic neurologic disorder, and oligophrenia"; "OMIM:270200" . _:12078d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007654" . _:12079d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:816" . _:1207ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome"^^xsd:anyURI; "GARD:0007654" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , , , , , ; "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems."; ; , , , , , , , ; "7-dehydrocholesterol reductase deficiency"@en, "RSH syndrome"@en, "SLOS"@en; "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems."@en; "orphanet"@en; "DOID:14692", "GARD:0005683", "ICD-10:Q87.1", "ICD10:E78.72", "ICD10:Q87.1", "ICD9:759.89", "MESH:D019082", "MONDO:0010035", "MSH:D019082", "MeSH:D019082", "NCIT:C85071", "OMIM:270400", "SCTID:43929004", "UMLS:C0175694", "UMLS:C2713347"; "7-dehydrocholesterol reductase deficiency", "RSH syndrome", "Rutledge lethal multiple congenital anomaly syndrome", "SLO syndrome", "SLOS", "Smith-Lemli-Opitz syndrome", "Smith-Lemli-Opitz syndrome; SLOS", "Smith-Opitz-inborn syndrome"; "Smith Lemli Opitz syndrome", "lethal acrodysgenital syndrome", "polydactyly, sex reversal, renal hypoplasia, and unilobar lung", "polydactyly, sex reversal, renal hypoplasia, and unilobular lung"; "Orphanet:818"; , ; rdfs:label "Smith-Lemli-Opitz syndrome", "Smith-Lemli-Opitz syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome"^^xsd:anyURI; "ORPHA:818" . _:1207bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems."; "Orphanet:818" . _:1207cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14692"; "MONDO:equivalentTo" . _:1207dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005683"; "MONDO:equivalentTo" . _:1207ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29868; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29868 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1207fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:12080d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E78.72"; "DOID:14692", "MONDO:equivalentTo" . _:12081d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:818/inclusion", "ORDO:818/ntbt", "Orphanet:818" . _:12082d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:12083d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D019082"; "DOID:14692", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:818/e", "Orphanet:818" . _:12084d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D019082"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12085d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85071"; "DOID:14692", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12086d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:270400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12087d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:270400"; "DOID:14692", "MONDO:equivalentTo", "ORDO:818/e", "Orphanet:818" . _:12088d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:43929004"; "DOID:14692", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:12089d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175694"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1208ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175694"; "DOID:14692", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85071", "OMIM:270400", "ORDO:818/e", "Orphanet:818" . _:1208bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2713347"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1208cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "7-dehydrocholesterol reductase deficiency"; "Orphanet:818" . _:1208dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RSH syndrome"; "OMIM:270400", "Orphanet:818" . _:1208ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rutledge lethal multiple congenital anomaly syndrome"; "DOID:14692", "OMIM:270400" . _:1208fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLO syndrome"; "OMIM:270400" . _:12090d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLOS"; "MONDO:Lexical", "OMIM:270400", "Orphanet:818" . _:12091d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Smith-Lemli-Opitz syndrome"; "MONDO:Lexical", "OMIM:270400" . _:12092d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Smith-Lemli-Opitz syndrome"; rdfs:comment "preferred label from MONDO" . _:12093d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Smith-Lemli-Opitz syndrome; SLOS"; "OMIM:270400" . _:12094d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Smith-Opitz-inborn syndrome"; "CSP2005:5002-0023", "DOID:14692" . _:12095d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Smith Lemli Opitz syndrome"; "GARD:0005683" . _:12096d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lethal acrodysgenital syndrome"; "OMIM:270400" . _:12097d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polydactyly, sex reversal, renal hypoplasia, and unilobar lung"; "OMIM:270400" . _:12098d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polydactyly, sex reversal, renal hypoplasia, and unilobular lung"; "GARD:0005683" . _:12099d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005683" . _:1209ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:818" . _:1209bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome"^^xsd:anyURI; "GARD:0005683" . a owl:Class; rdfs:subClassOf ; "Ehrmann-Sneddon syndrome"@en, "Livedo racemosa-cerebrovascular accident syndrome"@en, "Livedo reticularis-cerebrovascular accident syndrome"@en; "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa."@en; "orphanet"@en; "ICD-10:I77.8", "MeSH:D018860", "MedDRA:10053841", "OMIM:182410", "UMLS:C0282492"; rdfs:label "Sneddon syndrome"@en; "ORPHA:820" . _:1209cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29899; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29899 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I77.8"; "Attributed"@en . _:1209dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I77.8"; "NTBT (narrower term maps to a broader term)"@en . _:1209ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018860"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1209fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053841"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:182410"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0282492"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "A spina bifida (disease) that is not part of a larger syndrome."; ; , , ; "Spina bifida is the most common of a group of birth defects called neural tube defects. The neural tube is the embryonic structure that develops into the brain and spinal cord. Often called open spine, spina bifida affects the backbone and, sometimes, the spinal cord. Aperta spina bifida defines the dorsal malclosure of vertebrae, associated with various degrees of spine defects. A pocket of skin may form, containing meninges (meningocele) or spinal cord and meninges (myelomeningocele)."@en; "orphanet"@en; "GARD:0007673", "ICD-10:Q05.0", "ICD-10:Q05.1", "ICD-10:Q05.2", "ICD-10:Q05.3", "ICD-10:Q05.4", "ICD-10:Q05.5", "ICD-10:Q05.6", "ICD-10:Q05.7", "ICD-10:Q05.8", "ICD-10:Q05.9", "ICD10:Q05.0", "ICD10:Q05.1", "ICD10:Q05.2", "ICD10:Q05.3", "ICD10:Q05.4", "ICD10:Q05.5", "ICD10:Q05.6", "ICD10:Q05.7", "ICD10:Q05.8", "ICD10:Q05.9", "MONDO:0019351", "MSH:D016135", "MeSH:D016135", "MedDRA:10041524", "OMIM:182940", "OMIM:301410", "OMIM:601634", "UMLS:C0080178"; "isolated spina bifida", "isolated spina bifida (disease)", "nonsyndromic spina bifida (disease)"; "cleft spine", "open spine"; "Orphanet:823"; ; rdfs:label "Isolated spina bifida", "Isolated spina bifida"@en; "ORPHA:823" . _:120a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A spina bifida (disease) that is not part of a larger syndrome."; "MONDO:patterns/isolated" . _:120a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007673"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:120a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.0"; "BTNT (broader term maps to a narrower term)"@en . _:120a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.0"; "Specific code (The term has its own code in the ICD10)"@en . _:120a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.1"; "BTNT (broader term maps to a narrower term)"@en . _:120a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.1"; "Specific code (The term has its own code in the ICD10)"@en . _:120a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.2"; "BTNT (broader term maps to a narrower term)"@en . _:120a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.2"; "Specific code (The term has its own code in the ICD10)"@en . _:120aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.3"; "BTNT (broader term maps to a narrower term)"@en . _:120abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.3"; "Specific code (The term has its own code in the ICD10)"@en . _:120acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.4"; "BTNT (broader term maps to a narrower term)"@en . _:120add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.4"; "Specific code (The term has its own code in the ICD10)"@en . _:120aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.5"; "BTNT (broader term maps to a narrower term)"@en . _:120afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.5"; "Specific code (The term has its own code in the ICD10)"@en . _:120b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.6"; "BTNT (broader term maps to a narrower term)"@en . _:120b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.6"; "Specific code (The term has its own code in the ICD10)"@en . _:120b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.7"; "BTNT (broader term maps to a narrower term)"@en . _:120b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.7"; "Specific code (The term has its own code in the ICD10)"@en . _:120b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.8"; "BTNT (broader term maps to a narrower term)"@en . _:120b5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29925; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29925 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.8"; "Specific code (The term has its own code in the ICD10)"@en . _:120b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.9"; "BTNT (broader term maps to a narrower term)"@en . _:120b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q05.9"; "Specific code (The term has its own code in the ICD10)"@en . _:120b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.0"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.1"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.2"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.3"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.4"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.5"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.6"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.7"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.8"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q05.9"; "ORDO:823/btnt", "ORDO:823/specific", "Orphanet:823" . _:120c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016135"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10041524"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10041524"; "ORDO:823/e", "Orphanet:823" . _:120c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:182940"; "BTNT (broader term maps to a narrower term)"@en . _:120c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301410"; "BTNT (broader term maps to a narrower term)"@en . _:120c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601634"; "BTNT (broader term maps to a narrower term)"@en . _:120c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0080178"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated spina bifida"; rdfs:comment "preferred label from MONDO" . _:120cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic spina bifida (disease)"; "MONDO:patterns/isolated" . _:120cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cleft spine"; "GARD:0007673" . _:120ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "open spine"; "GARD:0007673" . _:120cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:823" . a owl:Class; rdfs:subClassOf ; "Agnogenic myeloid metaplasia"@en, "Idiopathic myelofibrosis"@en, "Myelofibrosis with myeloid metaplasia"@en, "Osteomyelofibrosis"@en; "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension."@en; "orphanet"@en; "ICD-10:D47.4", "OMIM:254450", "UMLS:C0001815", "UMLS:C0026987"; rdfs:label "Primary myelofibrosis"@en; "ORPHA:824" . _:120ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.4"; "NTBT (narrower term maps to a broader term)"@en . _:120cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:254450"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001815"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026987"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Sporotrichosis is an infection caused by the dimorphic fungus Sporothrix schenckii, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression."@en; "orphanet"@en; "ICD-10:B42.0", "ICD-10:B42.1", "ICD-10:B42.7", "ICD-10:B42.8", "ICD-10:B42.9", "MeSH:D013174", "MedDRA:10041736", "UMLS:C0038034"; rdfs:label "Sporotrichosis"@en; "ORPHA:826" . _:120d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B42.0"; "BTNT (broader term maps to a narrower term)"@en . _:120d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B42.1"; "BTNT (broader term maps to a narrower term)"@en . _:120d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B42.7"; "BTNT (broader term maps to a narrower term)"@en . _:120d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B42.8"; "BTNT (broader term maps to a narrower term)"@en . _:120d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B42.9"; "BTNT (broader term maps to a narrower term)"@en . _:120d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013174"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10041736"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0038034"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion."; , , , , , , ; "Fundus flavimaculatus"@en, "Stargardt 1"@en; "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion."@en; "orphanet", "orphanet"@en; "DOID:0050817", "GARD:0000181", "ICD-10:H35.5", "ICD10:H35.5", "MONDO:0019353", "MedDRA:10062766", "NCIT:C85078", "OMIM:248200", "OMIM:600110", "OMIM:603786", "SCTID:47673003", "UMLS:C0271093", "UMLS:C1855465"; "Fundus flavimaculatus", "Stargardt 1", "Stargardt disease", "fundus flavimaculatus"; "Stargardt disease 1"; "Stargardt macular dystrophy", "juvenile onset macular degeneration"; "Orphanet:827"; , ; rdfs:label "Stargardt disease", "Stargardt disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/181/stargardt-disease"^^xsd:anyURI; "ORPHA:827" . _:120dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion."; "Orphanet:827" . _:120dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050817"; "MONDO:equivalentTo" . _:120dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000181"; "MONDO:equivalentTo" . _:120ddd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid29966; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid29966 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:120ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "NTBT (narrower term maps to a broader term)"@en . _:120dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "MONDO:relatedTo", "ORDO:827/inclusion", "ORDO:827/ntbt", "Orphanet:827" . _:120e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062766"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062766"; "ORDO:827/e", "Orphanet:827" . _:120e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85078"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:120e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:248200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600110"; "BTNT (broader term maps to a narrower term)"@en . _:120e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603786"; "BTNT (broader term maps to a narrower term)"@en . _:120e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:47673003"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.89/0.78/0.09" . _:120e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271093"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271093"; "MONDO:equivalentTo", "NCIT:C85078", "ORDO:827/e", "Orphanet:827" . _:120e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855465"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1855465"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo", "Orphanet:827" . _:120ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stargardt 1"; "Orphanet:827" . _:120ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stargardt disease"; rdfs:comment "preferred label from MONDO" . _:120edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "fundus flavimaculatus"; "Orphanet:827" . _:120eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stargardt disease 1"; "DOID:0050817" . _:120efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stargardt macular dystrophy"; "GARD:0000181" . _:120f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "juvenile onset macular degeneration"; "GARD:0000181" . _:120f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000181" . _:120f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:827" . _:120f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/181/stargardt-disease"^^xsd:anyURI; "GARD:0000181" . a owl:Class; rdfs:subClassOf ; "AOSD"@en, "Wissler-Fanconi syndrome"@en; "Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash."@en; "orphanet"@en; "ICD-10:M06.1", "MeSH:D014924", "MeSH:D016706", "MedDRA:10058493", "MedDRA:10064056", "UMLS:C0043195", "UMLS:C0085253"; rdfs:label "Adult-onset Still disease"@en; "ORPHA:829" . _:120f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M06.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014924"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016706"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10058493"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064056"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043195"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085253"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; rdfs:label "Urogenital tract malformation"@en; "ORPHA:83001" . a owl:Class; rdfs:subClassOf , , ; "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents."; ; , , , , , , , ; "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents."@en; "orphanet"@en; "DOID:11367", "GARD:0009952", "ICD-10:Q12.3", "ICD10:Q12.3", "ICD9:743.35", "MESH:C537786", "MONDO:0012456", "MSH:C537786", "MeSH:C537786", "MedDRA:10002947", "NCIT:C35172", "OMIM:610256", "SCTID:35387008", "UMLS:C1853230"; "aphakia, congenital primary", "congenital absence of lens", "congenital aphakia", "congenital primary aphakia"; "ASGD2", "CPA", "anterior segment dysgenesis 2", "anterior segment dysgenesis 2; ASGD2"; "Orphanet:83461"; ; rdfs:label "Congenital primary aphakia", "Congenital primary aphakia"@en; "ORPHA:83461" . _:120fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents."; "Orphanet:83461" . _:120fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11367"; "MONDO:equivalentTo" . _:120fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009952"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:120fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q12.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:120ffd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30001; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30001 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q12.3"; "Specific code (The term has its own code in the ICD10)"@en . _:12100d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q12.3"; "DOID:11367", "MONDO:equivalentTo", "ORDO:83461/e", "ORDO:83461/specific", "Orphanet:83461" . _:12101d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.35"; "DOID:11367", "MONDO:equivalentTo", "i2s" . _:12102d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537786"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:83461/e", "Orphanet:83461" . _:12103d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537786"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12104d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002947"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12105d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002947"; "ORDO:83461/e", "Orphanet:83461" . _:12106d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C35172"; "DOID:11367", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12107d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610256"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12108d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610256"; "DOID:11367", "MONDO:equivalentTo", "ORDO:83461/e", "Orphanet:83461" . _:12109d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:35387008"; "DOID:11367", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:1210ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1853230"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1210bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aphakia, congenital primary"; "DOID:11367", "OMIM:610256" . _:1210cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital absence of lens"; "DOID:11367" . _:1210dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital aphakia"; "Orphanet:83461" . _:1210ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital primary aphakia"; rdfs:comment "preferred label from MONDO" . _:1210fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASGD2"; "OMIM:610256" . _:12110d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPA"; "OMIM:610256" . _:12111d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anterior segment dysgenesis 2"; "OMIM:610256" . _:12112d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anterior segment dysgenesis 2; ASGD2"; "OMIM:610256" . _:12113d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:83461" . a owl:Class; rdfs:subClassOf ; "Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal."@en; "orphanet"@en; "ICD-10:Q17.2", "MeSH:C537772", "MedDRA:10027555", "OMIM:128800", "OMIM:600674", "UMLS:C0152423"; rdfs:label "Microtia"@en; "ORPHA:83463" . _:12114d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q17.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12115d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30024; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30024 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q17.2"; "Specific code (The term has its own code in the ICD10)"@en . _:12116d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537772"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12117d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10027555"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12118d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:128800"; "BTNT (broader term maps to a narrower term)"@en . _:12119d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600674"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1211ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0152423"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Narcolepsy without cataplexy"@en; "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior."@en; "orphanet"@en; "ICD-10:G47.4"; rdfs:label "Narcolepsy type 2"@en; "ORPHA:83465" . _:1211bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G47.4"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "DSRCT"@en; "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases."@en; "orphanet"@en; "ICD-10:C48.2", "MeSH:D058405", "MedDRA:10064581", "UMLS:C0281508"; rdfs:label "Desmoplastic small round cell tumor"@en; "ORPHA:83469" . _:1211cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C48.2"; "NTBT (narrower term maps to a broader term)"@en . _:1211dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058405"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1211ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10064581"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1211fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0281508"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients."; ; , , ; "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients."@en; "orphanet"@en; "GARD:0012360", "ICD-10:D50.8", "ICD10:D50.8", "MONDO:0008787", "OMIM:206100", "SCTID:711161006", "UMLS:C2673913"; "anemia, hypochromic microcytic, with iron overload type 1", "microcytic anemia with liver iron overload"; "AHMIO1", "anemia, hypochromic microcytic, with iron overload 1", "anemia, hypochromic microcytic, with iron overload 1; AHMIO1", "hypochromic microcytic anemia with iron overload", "microcytic anemia and hepatic iron overload"; "Orphanet:83642"; ; rdfs:label "Microcytic anemia with liver iron overload", "Microcytic anemia with liver iron overload"@en; "ORPHA:83642" . _:12120d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients."; "Orphanet:83642" . _:12121d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012360"; "MONDO:equivalentTo", "OMIM-shared" . _:12122d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30038; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30038 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D50.8"; "Attributed"@en . _:12123d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D50.8"; "NTBT (narrower term maps to a broader term)"@en . _:12124d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D50.8"; "ORDO:83642/attributed", "ORDO:83642/ntbt", "Orphanet:83642" . _:12125d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:206100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12126d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:206100"; "MONDO:equivalentTo", "ORDO:83642/e", "Orphanet:83642" . _:12127d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:711161006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.70/0.37/0.09" . _:12128d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2673913"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12129d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, hypochromic microcytic, with iron overload type 1"; "MONDORULE:1", "OMIM:206100" . _:1212ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcytic anemia with liver iron overload"; rdfs:comment "preferred label from MONDO" . _:1212bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AHMIO1"; "MONDO:Lexical", "OMIM:206100" . _:1212cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, hypochromic microcytic, with iron overload 1"; "MONDO:Lexical", "OMIM:206100" . _:1212dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, hypochromic microcytic, with iron overload 1; AHMIO1"; "OMIM:206100" . _:1212ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypochromic microcytic anemia with iron overload"; "GARD:0012360" . _:1212fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "microcytic anemia and hepatic iron overload"; "GARD:0012360" . _:12130d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:83642" . a owl:Class; rdfs:subClassOf , ; "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life."; , , , , , , ; "Finnish congenital nephrosis"@en; "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life."@en; "orphanet"@en; "GARD:0001500", "ICD-10:N04.8", "ICD10:N04", "ICD10:N04.8", "MONDO:0009732", "MSH:C535761", "MeSH:C535761", "MedDRA:10060740", "NCIT:C122795", "OMIM:256300", "SCTID:197601003", "UMLS:C0403399"; "Finnish congenital nephrosis", "congenital nephrotic syndrome - Finnish type", "congenital nephrotic syndrome, Finnish type", "nephrotic syndrome - NPHS1 associated"; "CnF", "NPHS1", "congenital nephrotic syndrome 1", "congenital nephrotic syndrome Finnish type", "nephrosis 1, congenital, Finnish type", "nephrosis, congenital", "nephrotic syndrome, congenital", "nephrotic syndrome, type 1", "nephrotic syndrome, type 1; NPHS1"; "Orphanet:839"; , , ; rdfs:label "Congenital nephrotic syndrome, Finnish type", "Congenital nephrotic syndrome, Finnish type"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type"^^xsd:anyURI; "ORPHA:839" . _:12131d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life."; "Orphanet:839" . _:12132d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001500"; "MONDO:equivalentTo" . _:12133d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30056; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30056 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "Attributed"@en . _:12134d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "NTBT (narrower term maps to a broader term)"@en . _:12135d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.8"; "ORDO:839/attributed", "ORDO:839/ntbt", "Orphanet:839" . _:12136d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535761"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12137d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060740"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12138d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10060740"; "ORDO:839/e", "Orphanet:839" . _:12139d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C122795"; "MONDO:equivalentTo" . _:1213ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1213bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:256300"; "MONDO:equivalentTo", "ORDO:839/e", "Orphanet:839" . _:1213cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:197601003"; "MONDO:equivalentTo" . _:1213dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0403399"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1213ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0403399"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C122795", "OMIM:256300", "ORDO:839/e", "Orphanet:839" . _:1213fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finnish congenital nephrosis"; "OMIM:256300", "Orphanet:839" . _:12140d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital nephrotic syndrome - Finnish type"; "NCIT:C122795" . _:12141d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital nephrotic syndrome, Finnish type"; rdfs:comment "preferred label from MONDO" . _:12142d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome - NPHS1 associated"; "NCIT:C122795" . _:12143d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CnF"; "GARD:0001500" . _:12144d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPHS1"; "MONDO:Lexical", "OMIM:256300" . _:12145d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital nephrotic syndrome 1"; "GARD:0001500" . _:12146d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital nephrotic syndrome Finnish type"; "GARD:0001500" . _:12147d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrosis 1, congenital, Finnish type"; "GARD:0001500" . _:12148d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrosis, congenital"; "GARD:0001500" . _:12149d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome, congenital"; "OMIM:256300" . _:1214ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome, type 1"; "MONDO:Lexical", "OMIM:256300" . _:1214bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrotic syndrome, type 1; NPHS1"; "OMIM:256300" . _:1214cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0001500" . _:1214dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:839" . _:1214ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type"^^xsd:anyURI; "GARD:0001500" . a owl:Class; rdfs:subClassOf , , , , , , , , , , ; "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors."; , , , , , , ; "Fanconi pancytopenia"@en; "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors."@en; "orphanet", "orphanet"@en; "DOID:13636", "GARD:0006425", "ICD-10:D61.0", "ICD10:D61.0", "ICD10:D61.09", "ICD9:284.09", "MESH:D005199", "MONDO:0019391", "MSH:D005199", "MeSH:D005199", "MedDRA:10055206", "NCIT:C62505", "OMIM:227645", "OMIM:227646", "OMIM:227650", "OMIM:300514", "OMIM:600901", "OMIM:603467", "OMIM:609053", "OMIM:609054", "OMIM:610832", "OMIM:613390", "OMIM:613951", "OMIM:614082", "OMIM:614083", "OMIM:614087", "OMIM:615272", "OMIM:616435", "OMIM:617243", "OMIM:617244", "OMIM:617247", "OMIM:617883", "OMIMPS:227650", "SCTID:30575002", "UMLS:C0015625"; "Fanconi anemia", "Fanconi pancytopenia", "Fanconi panmyelopathy", "Fanconi's anemia", "Panmyelopathy, Fanconi", "pancytopenia, congenital", "primary erythroid hypoplasia"; "Orphanet:84"; , ; rdfs:label "Fanconi anemia", "Fanconi anemia"@en; "ORPHA:84" . _:1214fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors."; "Orphanet:84" . _:12150d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13636"; "MONDO:equivalentTo" . _:12151d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006425"; "MONDO:equivalentTo", "Orphanet-shared" . _:12152d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30088; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30088 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D61.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12153d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D61.0"; "NTBT (narrower term maps to a broader term)"@en . _:12154d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D61.0"; "MONDO:subClassOf", "ORDO:84/inclusion", "ORDO:84/ntbt", "Orphanet:84" . _:12155d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D61.09"; "DOID:13636" . _:12156d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:284.09"; "MONDO:relatedTo", "i2s" . _:12157d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005199"; "DOID:13636", "MONDO:equivalentTo", "ORDO:84/e", "Orphanet:84" . _:12158d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D005199"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12159d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10055206"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1215ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10055206"; "ORDO:84/e", "Orphanet:84" . _:1215bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C62505"; "DOID:13636", "MONDO:equivalentTo" . _:1215cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227645"; "BTNT (broader term maps to a narrower term)"@en . _:1215dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227646"; "BTNT (broader term maps to a narrower term)"@en . _:1215ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:227650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1215fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300514"; "BTNT (broader term maps to a narrower term)"@en . _:12160d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600901"; "BTNT (broader term maps to a narrower term)"@en . _:12161d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603467"; "BTNT (broader term maps to a narrower term)"@en . _:12162d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609053"; "BTNT (broader term maps to a narrower term)"@en . _:12163d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609054"; "BTNT (broader term maps to a narrower term)"@en . _:12164d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610832"; "BTNT (broader term maps to a narrower term)"@en . _:12165d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613390"; "BTNT (broader term maps to a narrower term)"@en . _:12166d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613951"; "BTNT (broader term maps to a narrower term)"@en . _:12167d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614082"; "BTNT (broader term maps to a narrower term)"@en . _:12168d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614083"; "BTNT (broader term maps to a narrower term)"@en . _:12169d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615272"; "BTNT (broader term maps to a narrower term)"@en . _:1216ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616435"; "BTNT (broader term maps to a narrower term)"@en . _:1216bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616435"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1216cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617243"; "BTNT (broader term maps to a narrower term)"@en . _:1216dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617243"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1216ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617244"; "BTNT (broader term maps to a narrower term)"@en . _:1216fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617244"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12170d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617247"; "BTNT (broader term maps to a narrower term)"@en . _:12171d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617247"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12172d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617883"; "BTNT (broader term maps to a narrower term)"@en . _:12173d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:227650"; "DOID:13636", "MONDO:equivalentTo" . _:12174d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:30575002"; "DOID:13636", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.74/1.31" . _:12175d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015625"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12176d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015625"; "DOID:13636", "MONDO:equivalentTo", "NCIT:C62505", "ORDO:84/e", "Orphanet:84" . _:12177d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi anemia"; rdfs:comment "preferred label from MONDO" . _:12178d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi pancytopenia"; "DOID:13636", "Orphanet:84" . _:12179d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi panmyelopathy"; "DOID:13636" . _:1217ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi's anemia"; "DOID:13636" . _:1217bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Panmyelopathy, Fanconi"; "NCIT:C62505" . _:1217cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancytopenia, congenital"; "NCIT:C62505" . _:1217dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary erythroid hypoplasia"; "NCIT:C62505" . _:1217ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:84" . a owl:Class; rdfs:subClassOf ; "Seminoma of testis"@en, "Seminomatous germ cell tumor of testis"@en, "Testicular seminoma"@en; "Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages."@en; "orphanet"@en; "ICD-10:C62.9", "OMIM:273300", "UMLS:C0036631"; rdfs:label "Testicular seminomatous germ cell tumor"@en; "ORPHA:842" . _:1217fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C62.9"; "NTBT (narrower term maps to a broader term)"@en . _:12180d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:273300"; "NTBT (narrower term maps to a broader term)"@en . _:12181d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036631"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema."; , , ; "Sporadic idiopathic nephrosis"@en; "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema."@en; "orphanet"@en; "ICD-10:N04.1", "ICD-10:N04.3", "ICD-10:N04.8", "ICD10:N04", "ICD10:N04.1", "ICD10:N04.3", "ICD10:N04.8", "MONDO:0019401", "OMIM:612551", "SCTID:717191005", "UMLS:C4274017"; "Sporadic idiopathic nephrosis", "sporadic idiopathic nephrosis", "sporadic idiopathic steroid-resistant nephrotic syndrome"; "Orphanet:84271"; ; rdfs:label "Sporadic idiopathic steroid-resistant nephrotic syndrome", "Sporadic idiopathic steroid-resistant nephrotic syndrome"@en; "ORPHA:84271" . _:12182d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema."; "Orphanet:84271" . _:12183d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "Attributed"@en . _:12184d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "BTNT (broader term maps to a narrower term)"@en . _:12185d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30140; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30140 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.3"; "Attributed"@en . _:12186d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.3"; "BTNT (broader term maps to a narrower term)"@en . _:12187d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "Attributed"@en . _:12188d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "BTNT (broader term maps to a narrower term)"@en . _:12189d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.1"; "ORDO:84271/attributed", "ORDO:84271/btnt", "Orphanet:84271" . _:1218ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.3"; "ORDO:84271/attributed", "ORDO:84271/btnt", "Orphanet:84271" . _:1218bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.8"; "ORDO:84271/attributed", "ORDO:84271/btnt", "Orphanet:84271" . _:1218cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612551"; "BTNT (broader term maps to a narrower term)"@en . _:1218dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717191005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:1218ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4274017"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:1218fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sporadic idiopathic nephrosis"; "Orphanet:84271" . _:12190d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sporadic idiopathic steroid-resistant nephrotic syndrome"; rdfs:comment "preferred label from MONDO" . _:12191d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:84271" . a owl:Class; rdfs:subClassOf , , ; "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles."; "Gautier Koscielny"; ; , , , , , , , , ; "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles."@en; "orphanet", "orphanet"@en; "COHD:4287844", "DOID:1099", "GARD:0000621", "ICD-10:D56.0", "ICD10:D56.0", "ICD9:282.43", "ICD9:282.49", "MESH:D017085", "MONDO:0011399", "MSH:D017085", "MeSH:D017085", "MedDRA:10043390", "NCIT:C34368", "OMIM:604131", "SCTID:68913001", "UMLS:C0002312", "UMLS:C1456873"; "Alpha thalassaemia", "alpha thalassemia", "alpha-Thalassemia", "alpha-thalassemia", "α-thalassemia"; "A-thalassemia"; "Orphanet:846"; ; rdfs:comment "synonyms and doid and parent"; rdfs:label "Alpha-thalassemia", "Alpha-thalassemia"@en; "ORPHA:846" . _:12192d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles."; "Orphanet:846" . _:12193d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12194d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4287844"; "MONDO:equivalentTo" . _:12195d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1099"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12196d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1099"; "MONDO:equivalentTo" . _:12197d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000621"; "MONDO:equivalentTo", "Orphanet-shared" . _:12198d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12199d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30161; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30161 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.0"; "Specific code (The term has its own code in the ICD10)"@en . _:1219ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.0"; "DOID:1099", "MONDO:equivalentTo", "ORDO:846/e", "ORDO:846/specific", "Orphanet:846" . _:1219bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.43"; "DOID:1099" . _:1219cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.49"; "MONDO:relatedTo", "i2s" . _:1219dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017085"; "DOID:1099", "MONDO:equivalentTo", "ORDO:846/e", "Orphanet:846" . _:1219ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017085"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1219fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043390"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043390"; "ORDO:846/e", "Orphanet:846" . _:121a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34368"; "DOID:1099", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:121a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604131"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604131"; "DOID:1099", "MONDO:equivalentTo", "ORDO:846/e", "Orphanet:846" . _:121a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:68913001"; "DOID:1099", "MONDO:equivalentTo", "MONDO:kboom-pr-0.86/0.67/0.41" . _:121a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002312"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002312"; "DOID:1099", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C34368", "OMIM:604131", "ORDO:846/e", "Orphanet:846" . _:121a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1456873"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha thalassaemia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:121a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alpha thalassaemia"; "DOID:1099" . _:121aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha thalassemia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:121abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha thalassemia"; rdfs:comment "preferred label from MONDO" . _:121acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha-Thalassemia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:121add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alpha-thalassemia"; "DOID:1099" . _:121aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "α-thalassemia"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:121afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A-thalassemia"; "GARD:0000621" . _:121b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:846" . _:121b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:comment; owl:annotatedTarget "synonyms and doid and parent"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf , , , ; "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)."; "Gautier Koscielny"; , ; , , , , , , ; "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)."@en; "orphanet", "orphanet"@en; "COHD:4278669", "DOID:12241", "GARD:0000871", "ICD-10:D56.1", "ICD10:D56.1", "ICD9:282.44", "ICD9:282.49", "MESH:D017086", "MONDO:0019402", "MSH:D017086", "MeSH:D017086", "MedDRA:10043391", "NCIT:C34375", "NCIt:C34375", "OMIM:603902", "OMIM:613985", "SCTID:65959000", "UMLS:C0005283"; "beta thalassemia", "thalassemia Major"; "Beta thalassemia intermedia", "Beta thalassemia minor", "Thalassemias, beta-", "erythroblastic anemia", "thalassemia, Hispanic gamma-delta-beta"; "Orphanet:848"; ; rdfs:label "Beta-thalassemia", "Beta-thalassemia"@en; "ORPHA:848" . _:121b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)."; "Orphanet:848" . _:121b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:121b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4278669"; "MONDO:equivalentTo" . _:121b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12241"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:121b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12241"; "MONDO:equivalentTo" . _:121b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000871"; "MONDO:equivalentTo", "Orphanet-shared" . _:121b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121b9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30194; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30194 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D56.1"; "Specific code (The term has its own code in the ICD10)"@en . _:121bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D56.1"; "DOID:12241", "ORDO:848/e", "ORDO:848/specific", "Orphanet:848" . _:121bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.44"; "DOID:12241" . _:121bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:282.49"; "MONDO:relatedTo", "i2s" . _:121bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017086"; "DOID:12241", "MONDO:equivalentTo", "ORDO:848/e", "Orphanet:848" . _:121bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017086"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043391"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043391"; "ORDO:848/e", "Orphanet:848" . _:121c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34375"; "DOID:12241", "MONDO:equivalentTo", "MONDO:kboom-pr-0.87/0.70/0.45" . _:121c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIt:C34375"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:121c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603902"; "BTNT (broader term maps to a narrower term)"@en . _:121c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613985"; "BTNT (broader term maps to a narrower term)"@en . _:121c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:65959000"; "DOID:12241", "MONDO:equivalentTo", "MONDO:kboom-pr-0.83/0.64/0.16" . _:121c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005283"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "beta thalassemia"; rdfs:comment "preferred label from MONDO" . _:121c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thalassemia Major"; "NCIT:C34375" . _:121c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beta thalassemia intermedia"; "GARD:0000871" . _:121cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beta thalassemia minor"; "GARD:0000871" . _:121cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Thalassemias, beta-"; "GARD:0000871" . _:121ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "erythroblastic anemia"; "GARD:0000871" . _:121cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thalassemia, Hispanic gamma-delta-beta"; "GARD:0000871" . _:121ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:848" . a owl:Class; rdfs:subClassOf , , ; "Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia."; , , ; , , , , , ; "Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia."@en; "orphanet", "orphanet"@en; "DOID:2219", "GARD:0002478", "ICD-10:D69.1", "ICD10:D69.1", "MESH:D013915", "MONDO:0010119", "NCIT:C61249", "OMIM:273800", "SCTID:32942005", "UMLS:C0040015"; "BDPLT2", "Glanzmann thrombasthenia", "Glanzmann's thrombasthenia", "Thrombocytasthenia", "deficiency of GP IIb-IIIa complex", "deficiency of glycoprotein complex IIb-IIIa", "deficiency of platelet fibrinogen receptor", "glycoprotein IIb/IIIa defect", "platelet glycoprotein IIb-IIIa deficiency", "platelet-type bleeding disorder 2", "thrombasthenia", "thrombasthenia of Glanzmann and Naegeli"; "Diacyclothrombopathia 2B 3A", "GP IIb-IIIa Complex, deficiency of", "GT", "Glanzmann thrombasthenia type A", "Glanzmann thrombasthenia; GT", "Platelet fibrinogen receptor, deficiency of", "Platelet glycoprotein 2B 3A deficiency", "Platelet glycoprotein IIb-IIIa deficiency", "bleeding disorder, Platelet-type, 2", "deficiency of GP 2B 3A complex", "glycoprotein Complex IIb-IIIa, deficiency of"; "Orphanet:849"; ; rdfs:label "Glanzmann thrombasthenia", "Glanzmann thrombasthenia"@en; "ORPHA:849" . _:121cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia."; "Orphanet:849" . _:121d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2219"; "MONDO:equivalentTo" . _:121d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002478"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:121d2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30220; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30220 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:121d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D69.1"; "NTBT (narrower term maps to a broader term)"@en . _:121d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D69.1"; "DOID:2219", "ORDO:849/inclusion", "ORDO:849/ntbt", "Orphanet:849" . _:121d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D013915"; "DOID:2219", "MONDO:equivalentTo", "MONDO:ontobio" . _:121d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C61249"; "DOID:2219", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:121d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:273800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:273800"; "DOID:2219", "MONDO:equivalentTo", "ORDO:849/e", "Orphanet:849" . _:121d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:32942005"; "DOID:2219", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:121dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040015"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:121dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BDPLT2"; "DOID:2219" . _:121dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glanzmann thrombasthenia"; "DOID:2219", "MONDO:Lexical", "OMIM:273800" . _:121ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glanzmann's thrombasthenia"; rdfs:comment "preferred label from MONDO" . _:121ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Thrombocytasthenia"; "DOID:2219", "MTHICD9_2006:287.1" . _:121dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of GP IIb-IIIa complex"; "DOID:2219" . _:121e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of glycoprotein complex IIb-IIIa"; "DOID:2219" . _:121e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of platelet fibrinogen receptor"; "DOID:2219" . _:121e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycoprotein IIb/IIIa defect"; "DOID:2219" . _:121e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "platelet glycoprotein IIb-IIIa deficiency"; "DOID:2219" . _:121e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "platelet-type bleeding disorder 2"; "DOID:2219" . _:121e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombasthenia"; "NCIT:C61249" . _:121e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thrombasthenia of Glanzmann and Naegeli"; "DOID:2219", "OMIM:273800" . _:121e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Diacyclothrombopathia 2B 3A"; "GARD:0002478" . _:121e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GP IIb-IIIa Complex, deficiency of"; "OMIM:273800" . _:121e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GT"; "MONDO:Lexical", "OMIM:273800" . _:121ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glanzmann thrombasthenia type A"; "GARD:0002478" . _:121ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glanzmann thrombasthenia; GT"; "OMIM:273800" . _:121ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Platelet fibrinogen receptor, deficiency of"; "OMIM:273800" . _:121edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Platelet glycoprotein 2B 3A deficiency"; "GARD:0002478" . _:121eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Platelet glycoprotein IIb-IIIa deficiency"; "OMIM:273800" . _:121efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bleeding disorder, Platelet-type, 2"; "OMIM:273800" . _:121f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of GP 2B 3A complex"; "GARD:0002478" . _:121f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycoprotein Complex IIb-IIIa, deficiency of"; "OMIM:273800" . _:121f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:849" . a owl:Class; rdfs:subClassOf , ; "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)."; ; , , , , , ; "orphanet"; "DOID:1338", "GARD:0001999", "ICD10:D64.4", "ICD9:285.8", "MESH:D000742", "MONDO:0019403", "MSH:D000742", "NCIT:C84646", "OMIM:615631", "OMIMPS:224120", "SCTID:52951008", "UMLS:C0002876"; "CDA", "anemia, congenital dyserythropoietic", "congenital dyserythropoietic anemia", "congenital dyshaematopoietic anaemia"; "dyserythropoietic anemia, congenital"; "Orphanet:85"; ; rdfs:label "Congenital dyserythropoietic anemia" . _:121f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)."; "Orphanet:85" . _:121f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1338"; "MONDO:equivalentTo" . _:121f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001999"; "MONDO:equivalentTo", "Orphanet-shared" . _:121f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.4"; "DOID:1338", "MONDO:equivalentTo", "ORDO:85/e", "ORDO:85/specific", "Orphanet:85" . _:121f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:285.8"; "MONDO:relatedTo", "i2s" . _:121f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000742"; "DOID:1338", "MONDO:equivalentTo", "ORDO:85/e", "Orphanet:85" . _:121f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84646"; "DOID:1338", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:121fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:224120"; "MONDO:cjm", "MONDO:equivalentTo" . _:121fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:52951008"; "DOID:1338", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.83/0.91" . _:121fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002876"; "DOID:1338", "MONDO:equivalentTo", "NCIT:C84646", "ORDO:85/e", "Orphanet:85" . _:121fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDA"; "Orphanet:85" . _:121fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, congenital dyserythropoietic"; "OMIMPS:224120" . _:121ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital dyserythropoietic anemia"; rdfs:comment "preferred label from MONDO" . _:12200d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital dyshaematopoietic anaemia"; "DOID:1338" . _:12201d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dyserythropoietic anemia, congenital"; "GARD:0001999" . _:12202d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:85" . a owl:Class; rdfs:subClassOf ; "Autoimmune Addison disease"@en, "Autoimmune adrenalitis"@en, "Classic Addison's disease"@en, "Primary Addison's disease"@en; "Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI; see this term)."@en; "orphanet"@en; "ICD-10:E27.1", "MeSH:D000224", "MedDRA:10001130", "OMIM:103230", "OMIM:240200", "UMLS:C0001403", "UMLS:C0271737"; rdfs:label "Addison disease"@en; "ORPHA:85138" . _:12203d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E27.1"; "NTBT (narrower term maps to a broader term)"@en . _:12204d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000224"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12205d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001130"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12206d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:103230"; "BTNT (broader term maps to a narrower term)"@en . _:12207d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:240200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12208d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001403"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12209d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271737"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Non-cirrhotic portal vein thrombosis"@en; "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system."@en; "orphanet"@en; "ICD-10:I81", "MedDRA:10036206", "UMLS:C0155773"; rdfs:label "Primitive portal vein thrombosis"@en; "ORPHA:854" . _:1220ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:I81"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1220bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10036206"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1220cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0155773"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Juvenile rheumatoid factor-negative polyarthritis"@en, "Polyarthritis without rheumatoid factor"@en, "Rheumatoid factor-negative JIA"@en; "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset."@en; "orphanet"@en; "ICD-10:M08.3"; rdfs:label "Rheumatoid factor-negative juvenile idiopathic arthritis"@en; "ORPHA:85408" . _:1220dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.3"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Still disease"@en, "Systemic polyarthritis"@en, "Systemic-onset JIA"@en; "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio."@en; "orphanet"@en; "ICD-10:M08.2", "OMIM:604302", "UMLS:C0087031", "UMLS:C1384600"; rdfs:label "Systemic-onset juvenile idiopathic arthritis"@en; "ORPHA:85414" . _:1220ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1220fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604302"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12210d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0087031"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12211d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1384600"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Juvenile idiopathic rheumatoid factor-positive polyarthritis"@en, "Polyarthritis with rheumatoid factor"@en, "Rheumatoid factor-positive polyarticular JIA"@en; "Rheumatoid factor-positive polyarthritis is a juvenile idiopathic arthritis (JIA) representing the paediatric form of rheumatoid polyarthritis in adults."@en; "orphanet"@en; "ICD-10:M08.0"; rdfs:label "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis"@en; "ORPHA:85435" . _:12212d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "ERA"@en, "Enthesitis-related JIA"@en; "Enthesitis-related arthritis is a type of juvenile idiopathic arthritis (JIA) that represents the paediatric form of spondylarthropathy in adults."@en; "orphanet"@en; "ICD-10:M08.8", "UMLS:C3495919"; rdfs:label "Enthesitis-related juvenile idiopathic arthritis"@en; "ORPHA:85438" . _:12213d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.8"; "NTBT (narrower term maps to a broader term)"@en . _:12214d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495919"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "ATTRV30M-related amyloidosis"@en, "Familial amyloid polyneuropathy type I"@en, "Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type"@en, "TTR amyloid neuropathy"@en, "Transthyretin amyloid neuropathy"@en, "Transthyretin amyloid polyneuropathy"@en; "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur."@en; "orphanet"@en; "ICD-10:E85.1+", "ICD-10:G63.3*", "ICD10:E85.1", "OMIM:105210", "UMLS:C0206245"; "TTR amyloid neuropathy", "Transthyretin amyloid neuropathy", "Transthyretin amyloid polyneuropathy"; rdfs:label "ATTRV30M amyloidosis"@en, "Familial amyloid polyneuropathy"; "ORPHA:85447" . _:12215d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30288; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30288 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.1+"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12216d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E85.1+"; "NTBT (narrower term maps to a broader term)"@en . _:12217d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G63.3*"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12218d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30292; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G63.3*"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12219d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:105210"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1221ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206245"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart."; ; , , , , , , , ; "Imperforate anus-hand, foot and ear anomalies syndrome"@en, "REAR syndrome"@en, "Renal-ear-anal-radial syndrome"@en, "Sensorineural deafness with imperforate anus and hypoplastic thumbs"@en, "TBS"@en, "Townes syndrome"@en; "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart."@en; "orphanet", "orphanet"@en; "DOID:0050887", "GARD:0007784", "ICD-10:Q87.8", "ICD10:Q87.8", "ICD9:759.89", "MESH:C536974", "MONDO:0007142", "MSH:C536974", "MeSH:C536974", "NCIT:C99085", "OMIM:107480", "OMIM:617466", "OMIMPS:107480", "SCTID:24750000", "UMLS:C0265246", "UMLS:CN034849"; "Imperforate anus with hand, foot and ear anomalies", "REAR syndrome", "Renal-ear-anal-radial syndrome", "Sensorineural deafness with imperforate anus and hypoplastic thumbs", "TBS", "Townes syndrome", "Townes-Brocks syndrome", "imperforate anus with hand, foot and ear anomalies", "rear syndrome", "renal-ear-anal-radial syndrome", "sensorineural deafness with imperforate anus and hypoplastic thumbs"; "TBS1", "Townes-Brocks syndrome 1", "Townes-Brocks syndrome 1; TBS1", "Townes-Brocks syndrome; TBS", "Townes-Brocks-branchiootorenal-like syndrome", "anus, imperforate, with hand, foot and ear anomalies", "anus, imperforate, with hand, foot, and Ear anomalies", "deafness, sensorineural, with imperforate anus and hypoplastic thumbs", "deafness, sensorineural, with imperforate anus and thumb anomalies", "renal-Ear-anal-radial syndrome"; "Orphanet:857"; , , ; rdfs:label "Townes-Brocks syndrome", "Townes-Brocks syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome"^^xsd:anyURI; "ORPHA:857" . _:1221bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart."; "Orphanet:857" . _:1221cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050887"; "MONDO:equivalentTo" . _:1221dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007784"; "MONDO:equivalentTo" . _:1221ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30299; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30299 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:1221fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:12220d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:857/attributed", "ORDO:857/ntbt", "Orphanet:857" . _:12221d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:12222d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536974"; "MONDO:equivalentTo", "ORDO:857/e", "Orphanet:857" . _:12223d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536974"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12224d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99085"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12225d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:107480"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12226d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617466"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12227d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617466"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12228d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:107480"; "MONDO:cjm", "MONDO:equivalentTo" . _:12229d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:24750000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:1222ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265246"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1222bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265246"; "MONDO:equivalentTo", "NCIT:C99085", "OMIM:107480", "ORDO:857/e", "Orphanet:857" . _:1222cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN034849"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:1222dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TBS"; "MONDO:Lexical", "OMIM:107480", "Orphanet:857" . _:1222ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Townes syndrome"; "Orphanet:857" . _:1222fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Townes-Brocks syndrome"; "MONDO:Lexical", "OMIM:107480" . _:12230d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Townes-Brocks syndrome"; rdfs:comment "preferred label from MONDO" . _:12231d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "imperforate anus with hand, foot and ear anomalies"; "Orphanet:857" . _:12232d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rear syndrome"; "Orphanet:857" . _:12233d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal-ear-anal-radial syndrome"; "Orphanet:857" . _:12234d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sensorineural deafness with imperforate anus and hypoplastic thumbs"; "Orphanet:857" . _:12235d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TBS1"; "OMIM:107480" . _:12236d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Townes-Brocks syndrome 1"; "OMIM:107480" . _:12237d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Townes-Brocks syndrome 1; TBS1"; "OMIM:107480" . _:12238d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Townes-Brocks syndrome; TBS"; "OMIM:107480" . _:12239d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Townes-Brocks-branchiootorenal-like syndrome"; "OMIM:107480" . _:1223ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anus, imperforate, with hand, foot and ear anomalies"; "GARD:0007784" . _:1223bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anus, imperforate, with hand, foot, and Ear anomalies"; "OMIM:107480" . _:1223cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deafness, sensorineural, with imperforate anus and hypoplastic thumbs"; "GARD:0007784" . _:1223dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deafness, sensorineural, with imperforate anus and thumb anomalies"; "OMIM:107480" . _:1223ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal-Ear-anal-radial syndrome"; "OMIM:107480" . _:1223fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007784" . _:12240d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:857" . _:12241d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome"^^xsd:anyURI; "GARD:0007784" . a owl:Class; rdfs:subClassOf , , ; "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance."; , ; "Congenitally uncorrected transposition of the great vessels"@en, "Isolated ventriculoarterial discordance"@en, "Ventriculoarterial discordance with atrioventricular concordance"@en; "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance."@en; "orphanet"@en; "DOID:0060770", "ICD-10:Q20.3", "ICD10:Q20.3", "MONDO:0019443", "OMIM:608808", "OMIM:613853", "OMIM:613854", "OMIMPS:608808"; "Congenitally uncorrected transposition of the great vessels", "D-TGA", "DTGA", "Isolated ventriculoarterial discordance", "Ventriculoarterial discordance with atrioventricular concordance", "congenitally uncorrected transposition of the great arteries", "congenitally uncorrected transposition of the great vessels", "dextro-looped transposition of the great arteries", "isolated ventriculoarterial discordance", "ventriculoarterial discordance with atrioventricular concordance"; "Orphanet:860"; ; rdfs:label "Congenitally uncorrected transposition of the great arteries", "Congenitally uncorrected transposition of the great arteries"@en; "ORPHA:860" . _:12242d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance."; "Orphanet:860" . _:12243d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060770"; "MONDO:equivalentTo" . _:12244d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30338; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30338 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q20.3"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12245d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q20.3"; "NTBT (narrower term maps to a broader term)"@en . _:12246d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q20.3"; "DOID:0060770", "ORDO:860/inclusion", "ORDO:860/ntbt", "Orphanet:860" . _:12247d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608808"; "BTNT (broader term maps to a narrower term)"@en . _:12248d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613854"; "BTNT (broader term maps to a narrower term)"@en . _:12249d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:608808"; "DC:0000602", "DOID:0060770", "MONDO:equivalentTo" . _:1224ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "D-TGA"; "DOID:0060770" . _:1224bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DTGA"; "MONDO:Lexical" . _:1224cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenitally uncorrected transposition of the great arteries"; "DOID:0060770" . _:1224dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenitally uncorrected transposition of the great vessels"; "DOID:0060770", "Orphanet:860" . _:1224ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dextro-looped transposition of the great arteries"; rdfs:comment "preferred label from MONDO" . _:1224fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated ventriculoarterial discordance"; "DOID:0060770", "Orphanet:860" . _:12250d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ventriculoarterial discordance with atrioventricular concordance"; "DOID:0060770", "Orphanet:860" . _:12251d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:860" . a owl:Class; rdfs:subClassOf ; "Trichinosis"@en; "Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur."@en; "orphanet"@en; "ICD-10:B75", "MeSH:D014235", "MedDRA:10044608", "UMLS:C0040896"; rdfs:label "Trichinellosis"@en; "ORPHA:863" . _:12252d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:B75"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12253d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014235"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12254d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10044608"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12255d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040896"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein."; , , , , ; "X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein."@en; "orphanet"@en; "GARD:0003981", "ICD-10:D70", "ICD10:D70", "MESH:C564539", "MONDO:0010294", "OMIM:300299", "SCTID:718882006", "UMLS:C1845987"; "X-linked severe congenital neutropenia", "severe congenital neutropenia, X-linked"; "SCNX", "Xln", "neutropenia, severe congenital, X-linked", "neutropenia, severe congenital, X-linked; SCNX", "severe congenital neutropenia X-linked"; "Orphanet:86788"; , ; rdfs:label "X-linked severe congenital neutropenia", "X-linked severe congenital neutropenia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked"^^xsd:anyURI; "ORPHA:86788" . _:12256d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein."; "https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked" . _:12257d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003981"; "MONDO:equivalentTo" . _:12258d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30359; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30359 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Attributed"@en . _:12259d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:1225ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70"; "MONDO:subClassOf", "ORDO:86788/attributed", "ORDO:86788/ntbt", "Orphanet:86788" . _:1225bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564539"; "MONDO:equivalentTo", "MONDO:ontobio" . _:1225cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300299"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1225dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300299"; "MONDO:equivalentTo", "ORDO:86788/e", "Orphanet:86788" . _:1225ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718882006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:1225fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1845987"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12260d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1845987"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:300299", "Orphanet:86788" . _:12261d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked severe congenital neutropenia"; rdfs:comment "preferred label from MONDO" . _:12262d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia, X-linked"; "MONDO:patterns/x_linked" . _:12263d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCNX"; "MONDO:Lexical", "OMIM:300299" . _:12264d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Xln"; "OMIM:300299" . _:12265d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia, severe congenital, X-linked"; "MONDO:Lexical", "OMIM:300299" . _:12266d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia, severe congenital, X-linked; SCNX"; "OMIM:300299" . _:12267d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia X-linked"; "GARD:0003981" . _:12268d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0003981" . _:12269d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:86788" . _:1226ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked"^^xsd:anyURI; "GARD:0003981" . a owl:Class; rdfs:subClassOf ; "Secondary AML"@en, "Secondary acute myeloid leukemia"@en, "Therapy-related AML and myelodysplastic syndrome"@en; "ICD-10:C92.0", "OMIM:601626", "UMLS:C1292776"; rdfs:label "Therapy related acute myeloid leukemia and myelodysplastic syndrome"@en; "ORPHA:86846" . _:1226bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C92.0"; "NTBT (narrower term maps to a broader term)"@en . _:1226cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601626"; "NTBT (narrower term maps to a broader term)"@en . _:1226dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1292776"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "B-PLL"@en; "ICD-10:C91.3", "MeSH:D054403", "UMLS:C0475801"; rdfs:label "B-cell prolymphocytic leukemia"@en; "ORPHA:86852" . _:1226ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C91.3"; "NTBT (narrower term maps to a broader term)"@en . _:1226fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054403"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12270d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0475801"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "SMZL"@en; "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated."@en; "orphanet"@en; "ICD-10:C83.0", "MedDRA:10062113", "UMLS:C0349632"; rdfs:label "Splenic marginal zone lymphoma"@en; "ORPHA:86854" . _:12271d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C83.0"; "NTBT (narrower term maps to a broader term)"@en . _:12272d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062113"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12273d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0349632"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "NMZL"@en; "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported."@en; "orphanet"@en; "ICD-10:C83.0", "MedDRA:10029460"; rdfs:label "Nodal marginal zone B-cell lymphoma"@en; "ORPHA:86867" . _:12274d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C83.0"; "NTBT (narrower term maps to a broader term)"@en . _:12275d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10029460"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "BPDCN"@en, "Blastic NK-cell lymphoma"@en, "Blastic plasmacytoid dendritic cell neoplasm"@en, "Lymphoblastoid variant of NK-cell lymphoma"@en, "Monomorphic NK-cell lymphoma"@en; "ICD-10:C86.4"; rdfs:label "CD4+/CD56+ hematodermic neoplasm"@en; "ORPHA:86870" . _:12276d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C86.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "T-PLL"@en, "T-cell chronic lymphocytic leukemia"@en; "ICD-10:C91.6", "MeSH:D015461", "MedDRA:10042985", "UMLS:C0023494", "UMLS:C2363142"; rdfs:label "T-cell prolymphocytic leukemia"@en; "ORPHA:86871" . _:12277d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C91.6"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12278d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015461"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12279d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10042985"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1227ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023494"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1227bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2363142"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Proliferation of large granular lymphocytes"@en, "T-LGL"@en, "T-cell LGL leukemia"@en; "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage."@en; "orphanet"@en; "MeSH:D054066", "MedDRA:10065862", "UMLS:C1955861", "UMLS:C2930809"; rdfs:label "T-cell large granular lymphocyte leukemia"@en; "ORPHA:86872" . _:1227cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054066"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1227dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10065862"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1227ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1955861"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1227fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2930809"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ANKCL"@en, "Aggressive NK-cell lymphoma"@en, "NK-cell LGL leukemia"@en, "NK-cell large granular lymphocyte leukemia"@en; "Aggressive NK-cell leukemia (ANKCL) is an extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. ANKCL has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation."@en; "orphanet"@en; "ICD-10:C94.7", "MedDRA:10028811", "UMLS:C1292777", "UMLS:C1522378"; rdfs:label "Aggressive NK-cell leukemia"@en; "ORPHA:86873" . _:12280d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C94.7"; "NTBT (narrower term maps to a broader term)"@en . _:12281d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028811"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12282d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1292777"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12283d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1522378"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ATLL"@en; "#946;. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement."@en; "orphanet"@en; "ICD-10:C91.5", "MeSH:D015459", "MedDRA:10001413", "UMLS:C0023493"; rdfs:label "Adult T-cell leukemia/lymphoma"@en; "ORPHA:86875" . _:12284d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C91.5"; "NTBT (narrower term maps to a broader term)"@en . _:12285d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D015459"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12286d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10001413"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12287d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0023493"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:C96.8", "MeSH:D054747", "UMLS:C0334663"; rdfs:label "Histiocytic sarcoma"@en; "ORPHA:86896" . _:12288d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.8"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12289d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054747"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1228ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0334663"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:C96.4", "MeSH:D054752", "UMLS:C1260327"; rdfs:label "Langerhans cell sarcoma"@en; "ORPHA:86897" . _:1228bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.4"; "NTBT (narrower term maps to a broader term)"@en . _:1228cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054752"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1228dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1260327"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , ; "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration."; ; , , , , , , , , ; "2A syndrome"@en, "3A syndrome"@en, "4A syndrome"@en, "AAA syndrome"@en, "Achalasia-addisonianism-alacrima syndrome"@en, "Adrenal insufficiency-achalasia-alacrima syndrome"@en, "Allgrove syndrome"@en, "Double A syndrome"@en, "Quaternary A syndrome"@en; "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration."@en; "orphanet"@en; "DOID:0050602", "EFO:1001997", "GARD:0000457", "ICD-10:E27.4", "ICD10:E27.4", "ICD9:255.41", "MESH:C536008", "MONDO:0009279", "MSH:C536008", "MSH:C536009", "MeSH:C536008", "MeSH:C536009", "NCIT:C131005", "OMIM:231550", "OMIM:615510", "SCTID:45414006", "UMLS:C0271742", "UMLS:C2931084"; "2A syndrome", "3A syndrome", "4A syndrome", "AAA syndrome", "Achalasia - addisonianism - alacrima syndrome", "Adrenal insufficiency - achalasia - alacrima", "Allgrove syndrome", "Double A syndrome", "Quaternary A syndrome", "achalasia-addisonianism-alacrima syndrome", "achalasia-addisonianism-alacrimia syndrome", "adrenal insufficiency-achalasia-alacrima syndrome", "quaternary A syndrome", "triple-A syndrome", "triple-a syndrome"; "AAA", "AAAS", "ACTH-resistant adrenal insufficiency, achalasia and alacrima", "Addisonian achalasia syndrome", "Addisonian-achalasia syndrome", "achalasia addisonianism alacrimia syndrome", "achalasia alacrima syndrome", "achalasia-addisonianism-alacrima syndrome; AAAS", "achalasia-alacrima syndrome", "alacrima-achalasia-addisonianism", "alacrima-achalasia-adrenal insufficiency neurologic disorder", "glucocorticoid deficiency and achalasia", "hypoadrenalism with achalasia", "triple A syndrome"; "Orphanet:869"; , ; rdfs:label "Triple A syndrome", "Triple A syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome"^^xsd:anyURI; "ORPHA:869" . _:1228ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration."; "Orphanet:869" . _:1228fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050602"; "MONDO:equivalentTo" . _:12290d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:1001997"; "MONDO:equivalentTo" . _:12291d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000457"; "MONDO:equivalentTo" . _:12292d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30418; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30418 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E27.4"; "Attributed"@en . _:12293d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E27.4"; "NTBT (narrower term maps to a broader term)"@en . _:12294d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E27.4"; "ORDO:869/attributed", "ORDO:869/ntbt", "Orphanet:869" . _:12295d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:255.41"; "MONDO:relatedTo", "i2s" . _:12296d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536008"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:869/e", "Orphanet:869" . _:12297d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536008"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12298d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536009"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12299d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.20" . _:1229ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:231550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1229bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:231550"; "DOID:0050602", "MONDO:equivalentTo", "ORDO:869/e", "Orphanet:869" . _:1229cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615510"; "BTNT (broader term maps to a narrower term)"@en . _:1229dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:45414006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/4.85" . _:1229ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271742"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1229fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931084"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "2A syndrome"; "Orphanet:869" . _:122a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3A syndrome"; "Orphanet:869" . _:122a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "4A syndrome"; "Orphanet:869" . _:122a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAA syndrome"; "Orphanet:869" . _:122a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Allgrove syndrome"; "DOID:0050602", "OMIM:231550", "Orphanet:869" . _:122a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Double A syndrome"; "Orphanet:869" . _:122a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achalasia-addisonianism-alacrima syndrome"; "MONDO:Lexical", "OMIM:231550", "Orphanet:869" . _:122a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achalasia-addisonianism-alacrimia syndrome"; "DOID:0050602" . _:122a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal insufficiency-achalasia-alacrima syndrome"; "Orphanet:869" . _:122a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "quaternary A syndrome"; "Orphanet:869" . _:122aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triple-A syndrome"; rdfs:comment "preferred label from MONDO" . _:122abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triple-a syndrome"; "OMIM:231550" . _:122acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAA"; "GARD:0000457" . _:122add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAAS"; "MONDO:Lexical", "OMIM:231550" . _:122aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACTH-resistant adrenal insufficiency, achalasia and alacrima"; "OMIM:231550" . _:122afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Addisonian achalasia syndrome"; "GARD:0000457" . _:122b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Addisonian-achalasia syndrome"; "OMIM:231550" . _:122b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achalasia addisonianism alacrimia syndrome"; "GARD:0000457" . _:122b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achalasia alacrima syndrome"; "GARD:0000457" . _:122b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achalasia-addisonianism-alacrima syndrome; AAAS"; "OMIM:231550" . _:122b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "achalasia-alacrima syndrome"; "OMIM:231550" . _:122b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alacrima-achalasia-addisonianism"; "OMIM:231550" . _:122b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "alacrima-achalasia-adrenal insufficiency neurologic disorder"; "OMIM:231550" . _:122b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glucocorticoid deficiency and achalasia"; "OMIM:231550" . _:122b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypoadrenalism with achalasia"; "OMIM:231550" . _:122b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "triple A syndrome"; "GARD:0000457" . _:122bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000457" . _:122bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:869" . _:122bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome"^^xsd:anyURI; "GARD:0000457" . a owl:Class; rdfs:subClassOf ; "Interdigitating cell sarcoma"@en, "Reticulum cell sarcoma"@en; "ICD-10:C96.4", "MeSH:D054739", "MedDRA:10038804", "OMIM:267730", "UMLS:C0024302", "UMLS:C1260326"; rdfs:label "Interdigitating dendritic cell sarcoma"@en; "ORPHA:86900" . _:122bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.4"; "NTBT (narrower term maps to a broader term)"@en . _:122bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054739"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038804"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:267730"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024302"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1260326"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:C96.4", "MeSH:D054740", "UMLS:C1260325"; rdfs:label "Follicular dendritic cell sarcoma"@en; "ORPHA:86902" . _:122c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.4"; "NTBT (narrower term maps to a broader term)"@en . _:122c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054740"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1260325"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.", "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly."; , , ; , , , , , , ; "ACS1"@en, "Acrocephalosyndactyly type 1"@en; "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly."@en; "orphanet", "orphanet"@en; "GARD:0005833", "ICD-10:Q87.0", "ICD10:Q87.0", "MESH:D000168", "MONDO:0007041", "MSH:D000168", "MeSH:D000168", "MedDRA:10002943", "NCIT:C99099", "OMIM:101200", "SCTID:205258009", "UMLS:C0001193", "UMLS:C1510455"; "ACS1", "Acrocephalosyndactyly type 1", "acrocephalosyndactyly type 1", "acrocephalosyndactyly type I", "apert syndrome", "type I Acrocephalosyndactyly"; "ACS 1", "ACS 2", "Vogt Cephalodactyly", "acrocephalo-syndactyly type 1", "acrocephalosyndactyly, type 1", "acrocephalosyndactyly, type 2", "apert-Crouzon disease", "syndactylic oxycephaly"; "Orphanet:87"; ; rdfs:label "Apert syndrome", "Apert syndrome"@en; "ORPHA:87" . _:122c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly."; "Orphanet:87" . _:122c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005833"; "MONDO:equivalentTo", "Orphanet-shared" . _:122c8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30473; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30473 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:122c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.0"; "NTBT (narrower term maps to a broader term)"@en . _:122cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.0"; "ORDO:87/inclusion", "ORDO:87/ntbt", "Orphanet:87" . _:122cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D000168"; "MONDO:equivalentTo", "ORDO:87/e", "Orphanet:87" . _:122ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000168"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002943"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002943"; "ORDO:87/e", "Orphanet:87" . _:122cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99099"; "MONDO:equivalentTo" . _:122d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:101200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:101200"; "MONDO:equivalentTo", "ORDO:87/e", "Orphanet:87" . _:122d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:205258009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.41/0.59" . _:122d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001193"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001193"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C99099", "OMIM:101200", "ORDO:87/e", "Orphanet:87" . _:122d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1510455"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACS1"; "Orphanet:87" . _:122d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrocephalosyndactyly type 1"; "Orphanet:87" . _:122d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrocephalosyndactyly type I"; "NCIT:C99099" . _:122d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apert syndrome"; "OMIM:101200" . _:122dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apert syndrome"; rdfs:comment "preferred label from MONDO" . _:122dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type I Acrocephalosyndactyly"; "NCIT:C99099" . _:122dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACS 1"; "OMIM:101200" . _:122ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACS 2"; "OMIM:101200" . _:122ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vogt Cephalodactyly"; "OMIM:101200" . _:122dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrocephalo-syndactyly type 1"; "GARD:0005833" . _:122e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrocephalosyndactyly, type 1"; "OMIM:101200" . _:122e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrocephalosyndactyly, type 2"; "OMIM:101200" . _:122e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apert-Crouzon disease"; "OMIM:101200" . _:122e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndactylic oxycephaly"; "GARD:0005833" . _:122e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:87" . a owl:Class; rdfs:subClassOf ; "Trisomy 21"@en; "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects."@en; "orphanet"@en; "ICD-10:Q90.0", "ICD-10:Q90.1", "ICD-10:Q90.2", "ICD-10:Q90.9", "MeSH:D004314", "MedDRA:10044688", "OMIM:190685", "UMLS:C0013080"; rdfs:label "Down syndrome"@en; "ORPHA:870" . _:122e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q90.0"; "BTNT (broader term maps to a narrower term)"@en . _:122e6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30504; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30504 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q90.0"; "Specific code (The term has its own code in the ICD10)"@en . _:122e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q90.1"; "BTNT (broader term maps to a narrower term)"@en . _:122e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q90.1"; "Specific code (The term has its own code in the ICD10)"@en . _:122e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q90.2"; "BTNT (broader term maps to a narrower term)"@en . _:122ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q90.2"; "Specific code (The term has its own code in the ICD10)"@en . _:122ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q90.9"; "BTNT (broader term maps to a narrower term)"@en . _:122ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q90.9"; "Specific code (The term has its own code in the ICD10)"@en . _:122edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D004314"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10044688"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:190685"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013080"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare intellectual disability"@en; "ORPHA:87277" . a owl:Class; rdfs:subClassOf ; "Aggressive fibromatosis"@en, "Desmoid type fibromatosis"@en; "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential."@en; "orphanet"@en; "ICD-10:D48.1", "OMIM:135290", "UMLS:C0079218"; rdfs:label "Desmoid tumor"@en; "ORPHA:873" . _:122f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D48.1"; "NTBT (narrower term maps to a broader term)"@en . _:122f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:135290"; "BTNT (broader term maps to a narrower term)"@en . _:122f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0079218"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Endodermal sinus tumor"@en; "ICD-10:C56", "ICD-10:C62.9", "MedDRA:10048251", "OMIM:273300", "UMLS:C0014145"; rdfs:label "Yolk sac tumor"@en; "ORPHA:876" . _:122f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C56"; "BTNT (broader term maps to a narrower term)"@en . _:122f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C62.9"; "BTNT (broader term maps to a narrower term)"@en . _:122f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048251"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:273300"; "NTBT (narrower term maps to a broader term)"@en . _:122f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014145"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion)."@en; "orphanet"@en; "UMLS:C0003650", "UMLS:C0014132", "UMLS:C0206754"; rdfs:label "Neuroendocrine neoplasm"@en; "ORPHA:877" . _:122f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0003650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014132"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:122fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206754"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , ; "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome."; , , , , , , , , , ; , , , , , , ; "45,X syndrome"@en, "45,X/46,XX syndrome"@en; "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome."@en; "orphanet"@en; "COHD:4307885", "DOID:3491", "GARD:0002458", "GARD:0002459", "GARD:0002540", "GARD:0007831", "ICD-10:Q96.0", "ICD-10:Q96.1", "ICD-10:Q96.2", "ICD-10:Q96.3", "ICD-10:Q96.4", "ICD-10:Q96.8", "ICD-10:Q96.9", "ICD10:Q96", "ICD10:Q96.0", "ICD10:Q96.1", "ICD10:Q96.2", "ICD10:Q96.3", "ICD10:Q96.4", "ICD10:Q96.8", "ICD10:Q96.9", "ICD9:758.7", "MESH:D014424", "MONDO:0019499", "MSH:D014424", "MeSH:D014424", "MedDRA:10045181", "NCIT:C26900", "SCTID:38804009", "UMLS:C0041408", "UMLS:C0242526"; "45,X gonadal dysgenesis", "45,X syndrome", "45,X/46,XX syndrome", "45,X0 syndrome", "45X syndrome", "Bonnevie-Ullrich syndrome", "Turner syndrome", "XO syndrome", "gonadal dysgenesis", "gonadal dysgenesis - Turner", "karyotype 45, X", "monosomy X", "monosomy X syndrome"; "45, X syndrome", "Bonnevie-Ulrich syndrome", "Schereshevkii Turner syndrome", "Turner Varny syndrome", "Ullrich-Turner syndrome", "chromosome X monosomy X", "genital dwarfism", "genital dwarfism, Turner type", "gonadal dysgenesis (45,X)", "gonadal dysgenesis Turner type"; "Orphanet:881"; , ; rdfs:comment "Editor note: consider splitting BU syndrome"; rdfs:label "Turner syndrome", "Turner syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism"^^xsd:anyURI, "https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type"^^xsd:anyURI, "https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome"^^xsd:anyURI; "ORPHA:881" . _:122fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome."; "Orphanet:881" . _:122fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4307885"; "MONDO:equivalentTo" . _:122fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3491"; "MONDO:equivalentTo" . _:122ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002458"; "MONDO:equivalentTo" . _:12300d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002459"; "MONDO:equivalentTo" . _:12301d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002540"; "MONDO:equivalentTo" . _:12302d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007831"; "MONDO:equivalentTo" . _:12303d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.0"; "BTNT (broader term maps to a narrower term)"@en . _:12304d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.0"; "Specific code (The term has its own code in the ICD10)"@en . _:12305d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.1"; "BTNT (broader term maps to a narrower term)"@en . _:12306d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.1"; "Specific code (The term has its own code in the ICD10)"@en . _:12307d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.2"; "BTNT (broader term maps to a narrower term)"@en . _:12308d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.2"; "Specific code (The term has its own code in the ICD10)"@en . _:12309d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.3"; "BTNT (broader term maps to a narrower term)"@en . _:1230ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.3"; "Specific code (The term has its own code in the ICD10)"@en . _:1230bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.4"; "BTNT (broader term maps to a narrower term)"@en . _:1230cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.4"; "Specific code (The term has its own code in the ICD10)"@en . _:1230dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.8"; "BTNT (broader term maps to a narrower term)"@en . _:1230ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.8"; "Specific code (The term has its own code in the ICD10)"@en . _:1230fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.9"; "BTNT (broader term maps to a narrower term)"@en . _:12310d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30547; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30547 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q96.9"; "Specific code (The term has its own code in the ICD10)"@en . _:12311d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q96"; "DOID:3491" . _:12312d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q96.0"; "DOID:3491", "ORDO:881/btnt", "ORDO:881/specific", "Orphanet:881" . _:12313d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q96.1"; "ORDO:881/btnt", "ORDO:881/specific", "Orphanet:881" . _:12314d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q96.2"; "ORDO:881/btnt", "ORDO:881/specific", "Orphanet:881" . _:12315d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q96.3"; "ORDO:881/btnt", "ORDO:881/specific", "Orphanet:881" . _:12316d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q96.4"; "ORDO:881/btnt", "ORDO:881/specific", "Orphanet:881" . _:12317d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q96.8"; "ORDO:881/btnt", "ORDO:881/specific", "Orphanet:881" . _:12318d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q96.9"; "DOID:3491", "ORDO:881/btnt", "ORDO:881/specific", "Orphanet:881" . _:12319d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.7"; "MONDO:equivalentTo", "i2s" . _:1231ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014424"; "DOID:3491", "MONDO:equivalentTo", "ORDO:881/e", "Orphanet:881" . _:1231bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014424"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1231cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10045181"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1231dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10045181"; "ORDO:881/e", "Orphanet:881" . _:1231ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C26900"; "DOID:3491", "MONDO:equivalentTo" . _:1231fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:38804009"; "DOID:3491", "MONDO:equivalentTo", "MONDO:kboom-pr-0.85/0.67/0.23" . _:12320d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0041408"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12321d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0041408"; "DOID:3491", "GARD:0002458", "MONDO:equivalentTo", "NCIT:C26900", "ORDO:881/e", "Orphanet:881" . _:12322d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242526"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12323d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X gonadal dysgenesis"; "NCIT:C26900" . _:12324d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X syndrome"; "Orphanet:881" . _:12325d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X/46,XX syndrome"; "Orphanet:881" . _:12326d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45,X0 syndrome"; "NCIT:C26900" . _:12327d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45X syndrome"; "NCIT:C26900" . _:12328d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bonnevie-Ullrich syndrome"; "DOID:3491" . _:12329d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Turner syndrome"; rdfs:comment "preferred label from MONDO" . _:1232ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XO syndrome"; "DOID:3491", "MTHICD9_2006:758.6" . _:1232bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal dysgenesis"; "NCIT:C26900" . _:1232cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal dysgenesis - Turner"; "DOID:3491" . _:1232dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "karyotype 45, X"; "DOID:3491" . _:1232ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy X"; "DOID:3491", "NCIT:C36630" . _:1232fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy X syndrome"; "CSP2005:1254-8447", "DOID:3491" . _:12330d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "45, X syndrome"; "GARD:0007831" . _:12331d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bonnevie-Ulrich syndrome"; "GARD:0007831" . _:12332d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schereshevkii Turner syndrome"; "GARD:0007831" . _:12333d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Turner Varny syndrome"; "GARD:0007831" . _:12334d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ullrich-Turner syndrome"; "GARD:0007831" . _:12335d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome X monosomy X"; "GARD:0007831" . _:12336d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genital dwarfism"; "GARD:0002458" . _:12337d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genital dwarfism, Turner type"; "GARD:0002459" . _:12338d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal dysgenesis (45,X)"; "GARD:0007831" . _:12339d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal dysgenesis Turner type"; "GARD:0002540" . _:1233ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007831" . _:1233bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:881" . _:1233cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism"^^xsd:anyURI; "GARD:0002458" . _:1233dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type"^^xsd:anyURI; "GARD:0002540" . _:1233ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome"^^xsd:anyURI; "GARD:0007831" . a owl:Class; rdfs:subClassOf ; "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor."@en; "orphanet"@en; "MeSH:D013724", "MedDRA:10043276", "UMLS:C0039538"; rdfs:label "Extragonadal teratoma"@en; "ORPHA:883" . _:1233fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013724"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12340d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043276"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12341d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0039538"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss."; , ; , , , , , ; "Retinitis pigmentosa-deafness syndrome"@en, "USH"@en; "Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss."@en; "orphanet", "orphanet"@en; "DOID:0050439", "GARD:0007843", "ICD-10:H35.5", "ICD10:H35.5", "MESH:D052245", "MONDO:0019501", "MSH:D052245", "MeSH:D052245", "MedDRA:10063396", "NCIT:C85217", "OMIM:276900", "OMIM:276901", "OMIM:276902", "OMIM:276904", "OMIM:500004", "OMIM:601067", "OMIM:602083", "OMIM:602097", "OMIM:605472", "OMIM:606943", "OMIM:611383", "OMIM:612632", "OMIM:614504", "OMIM:614869", "OMIM:614990", "OMIMPS:276900", "UMLS:C0271097"; "Retinitis pigmentosa - deafness", "USH", "Usher syndrome", "retinitis pigmentosa-deafness syndrome", "ush"; "Graefe-Usher syndrome", "Hallgren syndrome", "Usher's syndrome", "deafness-retinitis pigmentosa syndrome", "dystrophia retinae pigmentosa-dysostosis syndrome"; "Orphanet:886"; ; rdfs:label "Usher syndrome", "Usher syndrome"@en; "ORPHA:886" . _:12342d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss."; "Orphanet:886" . _:12343d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050439"; "MONDO:equivalentTo" . _:12344d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007843"; "MONDO:equivalentTo", "Orphanet-shared" . _:12345d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30601; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30601 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "Attributed"@en . _:12346d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.5"; "NTBT (narrower term maps to a broader term)"@en . _:12347d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "MONDO:relatedTo", "ORDO:886/attributed", "ORDO:886/ntbt", "Orphanet:886" . _:12348d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D052245"; "DOID:0050439", "MONDO:equivalentTo", "ORDO:886/e", "Orphanet:886" . _:12349d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D052245"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1234ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063396"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1234bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10063396"; "ORDO:886/e", "Orphanet:886" . _:1234cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85217"; "DOID:0050439", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:1234dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:276900"; "BTNT (broader term maps to a narrower term)"@en . _:1234ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:276901"; "BTNT (broader term maps to a narrower term)"@en . _:1234fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:276902"; "BTNT (broader term maps to a narrower term)"@en . _:12350d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:276904"; "BTNT (broader term maps to a narrower term)"@en . _:12351d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:500004"; "BTNT (broader term maps to a narrower term)"@en . _:12352d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601067"; "BTNT (broader term maps to a narrower term)"@en . _:12353d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602083"; "BTNT (broader term maps to a narrower term)"@en . _:12354d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:602097"; "BTNT (broader term maps to a narrower term)"@en . _:12355d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605472"; "BTNT (broader term maps to a narrower term)"@en . _:12356d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606943"; "BTNT (broader term maps to a narrower term)"@en . _:12357d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611383"; "BTNT (broader term maps to a narrower term)"@en . _:12358d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612632"; "BTNT (broader term maps to a narrower term)"@en . _:12359d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614504"; "BTNT (broader term maps to a narrower term)"@en . _:1235ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614869"; "BTNT (broader term maps to a narrower term)"@en . _:1235bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614990"; "BTNT (broader term maps to a narrower term)"@en . _:1235cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:276900"; "DOID:0050439", "MONDO:equivalentTo" . _:1235dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271097"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1235ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271097"; "DOID:0050439", "MONDO:equivalentTo", "NCIT:C85217", "ORDO:886/e", "Orphanet:886" . _:1235fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Usher syndrome"; rdfs:comment "preferred label from MONDO" . _:12360d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "retinitis pigmentosa-deafness syndrome"; "Orphanet:886" . _:12361d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ush"; "Orphanet:886" . _:12362d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Graefe-Usher syndrome"; "GARD:0007843" . _:12363d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hallgren syndrome"; "GARD:0007843" . _:12364d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Usher's syndrome"; "GARD:0007843" . _:12365d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deafness-retinitis pigmentosa syndrome"; "GARD:0007843" . _:12366d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystrophia retinae pigmentosa-dysostosis syndrome"; "GARD:0007843" . _:12367d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:886" . a owl:Class; rdfs:subClassOf , , , , ; "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels."; , , , , , ; "Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency"@en; "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels."@en; "orphanet"@en; "DOID:0111039", "GARD:0013177", "ICD-10:E72.1", "ICD10:E72.1", "MONDO:0013404", "OMIM:613752", "SCTID:724039002", "UMLS:C3151058", "UMLS:C4510276"; "Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency", "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency", "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase", "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency"; "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency"; "Orphanet:88618"; ; rdfs:label "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency", "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency"@en; "ORPHA:88618" . _:12368d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels."; "Orphanet:88618" . _:12369d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0111039"; "MONDO:equivalentTo" . _:1236ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0013177"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:1236bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30640 . _:genid-371333f489424440b12a13b9d98ced822604-genid30640 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "Attributed"@en . _:1236bd owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:1236cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.1"; "NTBT (narrower term maps to a broader term)"@en . _:1236dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.1"; "DOID:0111039", "ORDO:88618/attributed", "ORDO:88618/ntbt", "Orphanet:88618" . _:1236ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613752"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1236fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613752"; "DOID:0111039", "MONDO:equivalentTo", "ORDO:88618/e", "Orphanet:88618" . _:12370d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:724039002"; "MONDO:equivalentTo" . _:12371d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151058"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12372d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3151058"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:613752", "Orphanet:88618" . _:12373d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4510276"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12374d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency"; "DOID:0111039", "Orphanet:88618" . _:12375d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"; rdfs:comment "preferred label from MONDO" . _:12376d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency"; "DOID:0111039" . _:12377d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency"; "OMIM:613752" . _:12378d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:88618" . a owl:Class; rdfs:subClassOf , , , ; "Familial ocular anterior segment mesenchymal dysgenesis", "a spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)."; "Gautier Koscielny"; , ; ; "Anterior segment dysgenesis"@en; "DC:0000735", "GARD:0010025", "ICD-10:Q13.8", "ICD10:Q13.8", "ICD9:743.49", "MONDO:0019503", "OMIM:107250", "OMIM:617315", "OMIM:617319", "OMIMPS:107250", "SCTID:65075004"; "anterior segment dysgenesis", "anterior segment mesenchymal dysgenesis"; "ASMD", "ASOD", "FOXE3-related ocular disorder", "anterior segment mesenchymal dysgenesis", "anterior segment ocular dysgenesis", "familial ocular anterior segment mesenchymal dysgenesis"; "Orphanet:88632"; , ; rdfs:label "Anterior segment developmental anomaly"@en, "Familial ocular anterior segment mesenchymal dysgenesis"; "ORPHA:88632" . _:12379d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Familial ocular anterior segment mesenchymal dysgenesis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1237ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "a spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)."; "https://www.aao.org/bcscsnippetdetail.aspx?id=42ca606e-d460-4bd1-91e7-6b1929600ab0" . _:1237bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1237cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:88632" . _:1237dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000735"; "MONDO:equivalentTo" . _:1237ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010025"; "MONDO:equivalentTo" . _:1237fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q13.8"; "NTBT (narrower term maps to a broader term)"@en . _:12380d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q13.8"; "ORDO:88632/attributed", "ORDO:88632/ntbt", "Orphanet:88632" . _:12381d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.49"; "MONDO:relatedTo", "i2s" . _:12382d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:107250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12383d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617315"; "BTNT (broader term maps to a narrower term)"@en . _:12384d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617319"; "BTNT (broader term maps to a narrower term)"@en . _:12385d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:107250"; "MONDO:cjm", "MONDO:equivalentTo" . _:12386d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:65075004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.22" . _:12387d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anterior segment dysgenesis"; rdfs:comment "preferred label from MONDO" . _:12388d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anterior segment mesenchymal dysgenesis"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12389d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASMD"; "GARD:0010025" . _:1238ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASOD"; "GARD:0010025" . _:1238bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOXE3-related ocular disorder"; "GARD:0010025" . _:1238cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anterior segment mesenchymal dysgenesis"; "GARD:0010025" . _:1238dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anterior segment ocular dysgenesis"; "GARD:0010025" . _:1238ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial ocular anterior segment mesenchymal dysgenesis"; "GARD:0010025" . _:1238fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:88632" . a owl:Class; rdfs:subClassOf ; "HCC"@en; "Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure."@en; "orphanet"@en; "ICD-10:C22.0", "MeSH:D006528", "MedDRA:10049010", "OMIM:114550", "UMLS:C2239176"; rdfs:label "Hepatocellular carcinoma"@en; "ORPHA:88673" . _:12390d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C22.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12391d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006528"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12392d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049010"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12393d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:114550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12394d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2239176"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."; ; , , , , , , , , , , , ; "VACTERL association"@en, "VATER association"@en; "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."@en; "orphanet", "orphanet"@en; "DOID:14679", "GARD:0005443", "ICD-10:Q87.2", "ICD10:Q87.2", "ICD9:759.89", "MONDO:0008642", "MSH:C536495", "MSH:C536534", "MeSH:C536495", "MeSH:C536534", "MedDRA:10053665", "MedDRA:10066022", "NCIT:C99105", "OMIM:192350", "SCTID:27742002", "UMLS:C0220708", "UMLS:C1735591", "UMLS:CN206312"; "VACTERL association", "VACTERL/vater association", "VATER association", "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome"; "VATER syndrome", "VATER/VACTERL association"; "Orphanet:887"; ; rdfs:label "VACTERL/VATER association", "VACTERL/VATER association"@en; "ORPHA:887" . _:12395d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."; "Orphanet:887" . _:12396d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14679"; "MONDO:equivalentTo" . _:12397d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005443"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12398d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30686; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30686 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12399d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "NTBT (narrower term maps to a broader term)"@en . _:1239ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.2"; "DOID:14679", "ORDO:887/inclusion", "ORDO:887/ntbt", "Orphanet:887" . _:1239bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:1239cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536495"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1239dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536534"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1239ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053665"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1239fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10053665"; "ORDO:887/e", "Orphanet:887" . _:123a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066022"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10066022"; "ORDO:887/e", "Orphanet:887" . _:123a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99105"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:123a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:192350"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:192350"; "DOID:14679", "MONDO:equivalentTo", "ORDO:887/e", "Orphanet:887" . _:123a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:27742002"; "DOID:14679", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:123a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0220708"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0220708"; "DOID:14679", "MEDGEN:kboom-pr92-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:192350", "ORDO:887/e", "Orphanet:887" . _:123a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1735591"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1735591"; "MONDO:equivalentTo", "NCIT:C99105", "OMIM:192350", "ORDO:887/e", "Orphanet:887" . _:123aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206312"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:123abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VACTERL association"; "MONDO:0002007", "Orphanet:887" . _:123acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VACTERL/vater association"; rdfs:comment "preferred label from MONDO" . _:123add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VATER association"; "Orphanet:887" . _:123aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome"; "NCIT:C99105" . _:123afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VATER syndrome"; "DOID:14679" . _:123b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VATER/VACTERL association"; "OMIM:192350" . _:123b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:887" . a owl:Class; rdfs:subClassOf ; "UMLS:C0018798"; rdfs:label "Rare congenital non-syndromic heart malformation"@en; "ORPHA:88991" . _:123b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0018798"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; ; "ICD10:Q39", "MONDO:0019513"; "esophageal malformation"; "Orphanet:88993"; ; rdfs:label "Esophageal malformation" . _:123b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "esophageal malformation"; rdfs:comment "preferred label from MONDO" . _:123b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:88993" . a owl:Class; rdfs:subClassOf ; "Sinusoidal obstruction syndrome"@en; "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins."@en; "orphanet"@en; "ICD-10:K76.5", "MeSH:D006504", "MedDRA:10047216", "UMLS:C0019156"; rdfs:label "Hepatic veno-occlusive disease"@en; "ORPHA:890" . _:123b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K76.5"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006504"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047216"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019156"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare dementia"@en; "ORPHA:89043" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , ; "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma."; ; , , , , , , , ; "Familial cerebelloretinal angiomatosis"@en, "Lindau disease"@en, "VHL"@en, "Von Hippel-Lindau syndrome"@en; "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma."@en; "orphanet", "orphanet"@en; "DOID:14175", "GARD:0007855", "ICD-10:Q85.8", "ICD10:Q85.8", "ICD9:759.6", "MESH:D006623", "MONDO:0008667", "MSH:D006623", "MeSH:D006623", "MedDRA:10047716", "NCIT:C3105", "OMIM:193300", "SCTID:46659004", "UMLS:C0019562"; "Familial cerebelloretinal angiomatosis", "Hippel Lindau syndrome", "Lindau disease", "VHL", "Von Hippel-Lindau syndrome", "Von Hippel-Lindau syndrome (VHL)", "cerebroretinal angiomatosis", "familial cerebelloretinal angiomatosis", "von Hippel-Lindau disease", "von Hippel-Lindau syndrome"; "VHL syndrome", "VON Hippel-Lindau syndrome", "VON Hippel-Lindau syndrome; VHL", "Von Hippel Lindau disease", "Von Hippel-Lindau syndrome, Modifiers of"; "Orphanet:892"; , , ; rdfs:label "Von Hippel-Lindau disease", "Von Hippel-Lindau disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease"^^xsd:anyURI; "ORPHA:892" . _:123b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma."; "Orphanet:892" . _:123bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14175"; "MONDO:equivalentTo" . _:123bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007855"; "MONDO:equivalentTo" . _:123bcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30723; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30723 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:123bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.8"; "NTBT (narrower term maps to a broader term)"@en . _:123bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.8"; "DOID:14175", "ORDO:892/inclusion", "ORDO:892/ntbt", "Orphanet:892" . _:123bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.6"; "MONDO:relatedTo", "i2s" . _:123c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006623"; "DOID:14175", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:892/e", "Orphanet:892" . _:123c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006623"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047716"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047716"; "ORDO:892/e", "Orphanet:892" . _:123c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3105"; "DOID:14175", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.74/0.14" . _:123c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:193300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:193300"; "DOID:14175", "MONDO:equivalentTo", "ORDO:892/e", "Orphanet:892" . _:123c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:46659004"; "DOID:14175", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:123c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019562"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019562"; "DOID:14175", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3105", "OMIM:193300", "ORDO:892/e", "Orphanet:892" . _:123cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hippel Lindau syndrome"; "CSP2005:5000-0055", "DOID:14175" . _:123cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lindau disease"; "Orphanet:892" . _:123ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VHL"; "MONDO:Lexical", "OMIM:193300", "Orphanet:892" . _:123cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Von Hippel-Lindau syndrome"; "Orphanet:892" . _:123ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Von Hippel-Lindau syndrome (VHL)"; "DOID:14175", "NCIT:C3105" . _:123cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebroretinal angiomatosis"; "NCIT:C3105" . _:123d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cerebelloretinal angiomatosis"; "Orphanet:892" . _:123d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Hippel-Lindau disease"; rdfs:comment "preferred label from MONDO" . _:123d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Hippel-Lindau syndrome"; "DOID:14175", "MTHICD9_2006:759.6" . _:123d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VHL syndrome"; "GARD:0007855" . _:123d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VON Hippel-Lindau syndrome"; "MONDO:Lexical", "OMIM:193300" . _:123d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VON Hippel-Lindau syndrome; VHL"; "OMIM:193300" . _:123d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Von Hippel Lindau disease"; "GARD:0007855" . _:123d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Von Hippel-Lindau syndrome, Modifiers of"; "OMIM:193300" . _:123d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007855" . _:123d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:892" . _:123dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease"^^xsd:anyURI; "GARD:0007855" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , , ; "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor."; ; , , , , , , , , ; "Del(11)(p13)"@en, "Deletion 11p13"@en, "Monosomy 11p13"@en, "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome"@en; "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor."@en; "orphanet"@en; "DOID:14515", "GARD:0001732", "GARD:0005528", "ICD-10:Q87.8", "ICD10:Q87.8", "MESH:D017624", "MONDO:0008681", "MSH:C538295", "MSH:D017624", "MeSH:C538295", "MeSH:D017624", "NCIT:C3718", "OMIM:194072", "OMIM:612469", "SCTID:715215007", "UMLS:C0206115", "UMLS:C2931803"; "11p partial monosomy syndrome", "Del(11)(p13)", "Deletion 11p13", "Monosomy 11p13", "WAGR syndrome", "Wilms tumor - aniridia - genitourinary anomalies - intellectual disability", "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome", "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome", "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome", "chromosome 11p13 deletion syndrome", "deletion 11p13", "monosomy 11p13"; "11p deletion", "11p deletion syndrome", "11p monosomy", "AGR triad", "WAGR", "WAGR Complex", "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome", "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; WAGR", "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome", "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome", "chromosome 11P13 deletion syndrome", "chromosome 11p deletion", "chromosome 11p deletion syndrome", "deletion 11p", "monosomy 11p", "partial monosomy 11p"; "Orphanet:893"; , ; rdfs:label "WAGR syndrome", "WAGR syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome"^^xsd:anyURI; "ORPHA:893" . _:123dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor."; "Orphanet:893" . _:123dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14515"; "MONDO:equivalentTo" . _:123ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001732"; "MONDO:equivalentTo" . _:123ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005528"; "MONDO:equivalentTo" . _:123dfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30759; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30759 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "Attributed"@en . _:123e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.8"; "NTBT (narrower term maps to a broader term)"@en . _:123e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:893/attributed", "ORDO:893/ntbt", "Orphanet:893" . _:123e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017624"; "DOID:14515", "MONDO:equivalentTo", "ORDO:893/e", "Orphanet:893" . _:123e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538295"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D017624"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3718"; "DOID:14515", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/26.27" . _:123e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194072"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194072"; "DOID:14515", "MONDO:equivalentTo", "ORDO:893/e", "Orphanet:893" . _:123e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612469"; "BTNT (broader term maps to a narrower term)"@en . _:123e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715215007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.76/0.10" . _:123ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206115"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206115"; "DOID:14515", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3718", "OMIM:194072", "ORDO:893/e", "Orphanet:893" . _:123ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931803"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:123edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931803"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:893/e", "Orphanet:893" . _:123eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "11p partial monosomy syndrome"; "NCIT:C3718" . _:123efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Del(11)(p13)"; "Orphanet:893" . _:123f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WAGR syndrome"; "NCIT:C3718", "OMIM:194072" . _:123f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WAGR syndrome"; rdfs:comment "preferred label from MONDO" . _:123f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome"; "NCIT:C3718" . _:123f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome"; "Orphanet:893" . _:123f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome"; "DOID:14515", "NCIT:C3718" . _:123f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 11p13 deletion syndrome"; "DOID:14515" . _:123f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deletion 11p13"; "Orphanet:893" . _:123f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy 11p13"; "Orphanet:893" . _:123f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "11p deletion"; "GARD:0001732" . _:123f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "11p deletion syndrome"; "GARD:0005528" . _:123fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "11p monosomy"; "GARD:0001732" . _:123fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGR triad"; "GARD:0005528" . _:123fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WAGR"; "MONDO:Lexical", "OMIM:194072" . _:123fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WAGR Complex"; "GARD:0005528" . _:123fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome"; "MONDO:Lexical", "OMIM:194072" . _:123ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; WAGR"; "OMIM:194072" . _:12400d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome"; "GARD:0005528" . _:12401d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome"; "GARD:0005528" . _:12402d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 11P13 deletion syndrome"; "OMIM:194072" . _:12403d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 11p deletion"; "GARD:0001732" . _:12404d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 11p deletion syndrome"; "GARD:0005528" . _:12405d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deletion 11p"; "GARD:0001732" . _:12406d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy 11p"; "GARD:0001732" . _:12407d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial monosomy 11p"; "GARD:0001732" . _:12408d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005528" . _:12409d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:893" . _:1240ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome"^^xsd:anyURI; "GARD:0005528" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare skin disease"@en; "ORPHA:89826" . a owl:Class; rdfs:subClassOf , ; "A lymphedema that is part of a larger syndrome."; , ; "MONDO:0019520", "UMLS:CN227645"; "syndrome associated with lymphedema", "syndromic lymphedema"; "syndrome associated with lymphedema"; "Orphanet:89832"; ; rdfs:label "Syndromic lymphedema" . _:1240bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A lymphedema that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:1240cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227645"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:1240dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with lymphedema"; "MONDO:patterns/syndromic" . _:1240ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic lymphedema"; "MONDO:patterns/syndromic" . _:1240fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic lymphedema"; rdfs:comment "preferred label from MONDO" . _:12410d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with lymphedema"; "MONDO:patterns/syndromic" . _:12411d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:89832" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , ; "Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities."; ; , , , , , ; "HARD syndrome"@en, "Hydrocephalus-agyria-retinal dysplasia syndrome"@en, "WWS"@en; "Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities."@en; "orphanet", "orphanet"@en; "DOID:0050560", "GARD:0002599", "ICD-10:Q04.3", "ICD10:Q04.3", "MESH:D058494", "MONDO:0019523", "MSH:D058494", "MeSH:D058494", "NCIT:C99109", "OMIM:236670", "OMIM:253280", "OMIM:253800", "OMIM:613150", "OMIM:613153", "OMIM:613154", "OMIM:614643", "OMIM:614830", "OMIM:615041", "OMIM:615181", "OMIM:615249", "OMIM:615287", "OMIM:616538", "OMIM:618135", "SCTID:111504002", "UMLS:C0265221", "UMLS:CN239483"; "HARD syndrome", "Hydrocephalus - agyria - retinal dysplasia", "Hydrocephalus-agyria-retinal dysplasia syndrome", "WWS", "Walker-Warburg muscular dystrophy", "Walker-Warburg syndrome", "cerebroocular dysplasia-muscular dystrophy syndrome", "hard syndrome", "hydrocephalus-agyria-retinal dysplasia syndrome"; "Chemke syndrome", "Pagon syndrome", "Warburg syndrome", "cerebroocular dysgenesis", "cerebroocular dysplasia muscular dystrophy syndrome", "hard +/- E syndrome", "hydrocephalus, agyria and retinal dysplasia"; "Orphanet:899"; ; rdfs:label "Walker-Warburg syndrome", "Walker-Warburg syndrome"@en; "ORPHA:899" . _:12412d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities."; "Orphanet:899" . _:12413d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050560"; "MONDO:equivalentTo" . _:12414d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002599"; "MONDO:equivalentTo", "Orphanet-shared" . _:12415d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30814; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30814 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "Attributed"@en . _:12416d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q04.3"; "NTBT (narrower term maps to a broader term)"@en . _:12417d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q04.3"; "ORDO:899/attributed", "ORDO:899/ntbt", "Orphanet:899" . _:12418d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D058494"; "MONDO:equivalentTo", "ORDO:899/e", "Orphanet:899" . _:12419d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058494"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1241ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99109"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:1241bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:236670"; "NTBT (narrower term maps to a broader term)"@en . _:1241cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253280"; "BTNT (broader term maps to a narrower term)"@en . _:1241dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:253800"; "BTNT (broader term maps to a narrower term)"@en . _:1241ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613150"; "BTNT (broader term maps to a narrower term)"@en . _:1241fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613153"; "BTNT (broader term maps to a narrower term)"@en . _:12420d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613154"; "BTNT (broader term maps to a narrower term)"@en . _:12421d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614643"; "BTNT (broader term maps to a narrower term)"@en . _:12422d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614830"; "BTNT (broader term maps to a narrower term)"@en . _:12423d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615041"; "BTNT (broader term maps to a narrower term)"@en . _:12424d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615181"; "BTNT (broader term maps to a narrower term)"@en . _:12425d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615249"; "BTNT (broader term maps to a narrower term)"@en . _:12426d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615287"; "BTNT (broader term maps to a narrower term)"@en . _:12427d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616538"; "BTNT (broader term maps to a narrower term)"@en . _:12428d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616538"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12429d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618135"; "BTNT (broader term maps to a narrower term)"@en . _:1242ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:111504002"; "MONDO:equivalentTo" . _:1242bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265221"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1242cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239483"; "MONDO:equivalentTo" . _:1242dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WWS"; "Orphanet:899" . _:1242ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Walker-Warburg muscular dystrophy"; "NCIT:C99109" . _:1242fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Walker-Warburg syndrome"; rdfs:comment "preferred label from MONDO" . _:12430d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebroocular dysplasia-muscular dystrophy syndrome"; "DOID:0050560" . _:12431d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hard syndrome"; "DOID:0050560", "Orphanet:899" . _:12432d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydrocephalus-agyria-retinal dysplasia syndrome"; "Orphanet:899" . _:12433d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chemke syndrome"; "GARD:0002599" . _:12434d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pagon syndrome"; "GARD:0002599" . _:12435d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Warburg syndrome"; "GARD:0002599" . _:12436d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebroocular dysgenesis"; "GARD:0002599" . _:12437d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebroocular dysplasia muscular dystrophy syndrome"; "GARD:0002599" . _:12438d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hard +/- E syndrome"; "GARD:0002599" . _:12439d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hydrocephalus, agyria and retinal dysplasia"; "GARD:0002599" . _:1243ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:899" . a owl:Class; rdfs:subClassOf , , ; "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth."; , , , , ; , , , , , ; "X-linked hypophosphatemic rickets"@en, "XLH"@en; "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth."@en; "orphanet", "orphanet"@en; "DOID:0050445", "GARD:0012943", "ICD-10:E83.3", "ICD10:E83.3", "ICD10:E83.31", "MESH:D053098", "MONDO:0010619", "NCIT:C123265", "OMIM:307800", "SCTID:82236004", "UMLS:C0733682", "UMLS:C3536984", "UMLS:C3540852"; "Vitamin D-resistant rickets, X-linked", "X-linked dominant hypophosphatemic rickets", "X-linked hereditary hypophosphatemic rickets", "X-linked hypophosphatemia", "X-linked hypophosphatemic rickets", "XLH", "hereditary hypophosphatemic rickets, X-linked", "hypophosphatemia, Vitamin D-resistant rickets", "hypophosphatemic rickets X-linked dominant", "hypophosphatemic rickets, X-linked", "rickets, Vitamin D-resistant"; "HPDR", "HYP", "XLHR", "hypophophatemia, X-linked", "hypophophatemic vitamin D-resistant rickets", "hypophosphatemia, X-linked", "hypophosphatemic Vitamin D-resistant rickets", "hypophosphatemic rickets, X-linked dominant", "hypophosphatemic rickets, X-linked dominant; XLHR"; "Orphanet:89936"; ; rdfs:label "X-linked hypophosphatemia", "X-linked hypophosphatemia"@en; "ORPHA:89936" . _:1243bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth."; "Orphanet:89936" . _:1243cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050445"; "MONDO:equivalentTo" . _:1243dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012943"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:1243ed a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30856; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30856 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "Attributed"@en . _:1243fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "NTBT (narrower term maps to a broader term)"@en . _:12440d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.3"; "MONDO:relatedTo", "ORDO:89936/attributed", "ORDO:89936/ntbt", "Orphanet:89936" . _:12441d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.31"; "DOID:0050445" . _:12442d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D053098"; "DOID:0050445", "MONDO:equivalentTo" . _:12443d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C123265"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.86/0.20" . _:12444d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12445d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307800"; "DOID:0050445", "MONDO:equivalentTo", "ORDO:89936/e", "Orphanet:89936" . _:12446d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:82236004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.67" . _:12447d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0733682"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12448d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3536984"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12449d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3540852"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1244ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D-resistant rickets, X-linked"; "DOID:0050445", "OMIM:307800" . _:1244bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked dominant hypophosphatemic rickets"; rdfs:comment "preferred label from MONDO" . _:1244cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked hereditary hypophosphatemic rickets"; "MONDO:design_pattern" . _:1244dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked hypophosphatemia"; "DOID:0050445" . _:1244ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked hypophosphatemic rickets"; "Orphanet:89936" . _:1244fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XLH"; "Orphanet:89936" . _:12450d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hypophosphatemic rickets, X-linked"; "MONDO:patterns/x_linked" . _:12451d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemia, Vitamin D-resistant rickets"; "DOID:0050445" . _:12452d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets X-linked dominant"; "DOID:0050445" . _:12453d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets, X-linked"; "MONDO:patterns/x_linked" . _:12454d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rickets, Vitamin D-resistant"; "DOID:0050445" . _:12455d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPDR"; "GARD:0012943" . _:12456d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HYP"; "OMIM:307800" . _:12457d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XLHR"; "MONDO:Lexical", "OMIM:307800" . _:12458d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophophatemia, X-linked"; "GARD:0012943" . _:12459d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophophatemic vitamin D-resistant rickets"; "GARD:0012943" . _:1245ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemia, X-linked"; "OMIM:307800" . _:1245bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic Vitamin D-resistant rickets"; "OMIM:307800" . _:1245cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets, X-linked dominant"; "MONDO:Lexical", "OMIM:307800" . _:1245dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets, X-linked dominant; XLHR"; "OMIM:307800" . _:1245ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:89936" . a owl:Class; rdfs:subClassOf , , , ; "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."; , , , , , ; "ADHR"@en, "Autosomal dominant hypophosphatemia"@en; "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."@en; "orphanet", "orphanet"@en; "DOID:0050948", "ICD-10:E83.3", "ICD10:E83.3", "MESH:C562791", "MONDO:0008660", "OMIM:193100", "SCTID:237889002", "UMLS:C0342642", "UMLS:C1704375"; "ADHR", "Autosomal dominant hypophosphatemia", "autosomal dominant hereditary hypophosphatemic rickets", "autosomal dominant hypophosphatemia", "autosomal dominant hypophosphatemic rickets", "hereditary hypophosphatemic rickets, autosomal dominant", "hypophosphatemic rickets, autosomal dominant"; "Vitamin D-resistant rickets, autosomal dominant", "hypophosphatemia, autosomal dominant", "hypophosphatemic rickets, autosomal dominant; ADHR"; "Orphanet:89937"; ; rdfs:label "Autosomal dominant hypophosphatemic rickets", "Autosomal dominant hypophosphatemic rickets"@en; "ORPHA:89937" . _:1245fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."; "Orphanet:89937" . _:12460d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050948"; "MONDO:equivalentTo" . _:12461d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30892; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "Attributed"@en . _:12462d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "NTBT (narrower term maps to a broader term)"@en . _:12463d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.3"; "MONDO:relatedTo", "ORDO:89937/attributed", "ORDO:89937/ntbt", "Orphanet:89937" . _:12464d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562791"; "MONDO:equivalentTo", "MONDO:ontobio" . _:12465d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:193100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12466d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:193100"; "DOID:0050948", "MONDO:equivalentTo", "ORDO:89937/e", "Orphanet:89937" . _:12467d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237889002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:12468d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342642"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12469d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342642"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:193100", "ORDO:89937/e", "Orphanet:89937" . _:1246ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1704375"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1246bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADHR"; "MONDO:Lexical", "OMIM:193100", "Orphanet:89937" . _:1246cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hereditary hypophosphatemic rickets"; "MONDO:design_pattern" . _:1246dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hypophosphatemia"; "Orphanet:89937" . _:1246ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant hypophosphatemic rickets"; rdfs:comment "preferred label from MONDO" . _:1246fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hypophosphatemic rickets, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:12470d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets, autosomal dominant"; "MONDO:Lexical", "MONDO:patterns/autosomal_dominant", "OMIM:193100" . _:12471d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D-resistant rickets, autosomal dominant"; "OMIM:193100" . _:12472d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemia, autosomal dominant"; "OMIM:193100" . _:12473d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypophosphatemic rickets, autosomal dominant; ADHR"; "OMIM:193100" . _:12474d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:89937" . a owl:Class; rdfs:subClassOf , ; "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment."; ; , , , , , , , ; "Arginase deficiency"@en, "Hyperargininemia"@en; "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment."@en; "orphanet", "orphanet"@en; "DOID:9278", "GARD:0005840", "ICD-10:E72.2", "ICD10:E72.2", "ICD10:E72.21", "MESH:D020162", "MONDO:0008814", "MSH:D020162", "MeSH:D020162", "MedDRA:10062695", "NCIT:C84568", "OMIM:207800", "SCTID:23501004", "UMLS:C0268548"; "Arginase deficiency", "Hyperargininemia", "arginase deficiency", "argininemia", "deficiency of canavanase", "hyperargininemia"; "Arg1 deficiency"; "Orphanet:90"; ; rdfs:label "Argininemia", "Argininemia"@en; "ORPHA:90" . _:12475d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment."; "Orphanet:90" . _:12476d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9278"; "MONDO:equivalentTo" . _:12477d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005840"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12478d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30916; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30916 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "Attributed"@en . _:12479d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "NTBT (narrower term maps to a broader term)"@en . _:1247ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.2"; "ORDO:90/attributed", "ORDO:90/ntbt", "Orphanet:90" . _:1247bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.21"; "DOID:9278" . _:1247cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020162"; "DOID:9278", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:90/e", "Orphanet:90" . _:1247dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020162"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1247ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062695"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1247fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062695"; "ORDO:90/e", "Orphanet:90" . _:12480d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84568"; "DOID:9278", "MONDO:equivalentTo" . _:12481d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:207800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12482d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:207800"; "DOID:9278", "MONDO:equivalentTo", "ORDO:90/e", "Orphanet:90" . _:12483d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:23501004"; "DOID:9278", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12484d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268548"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12485d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268548"; "DOID:9278", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:207800", "ORDO:90/e", "Orphanet:90" . _:12486d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arginase deficiency"; "OMIM:207800", "Orphanet:90" . _:12487d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "argininemia"; "CSP2005:1849-9378", "DOID:9278" . _:12488d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of canavanase"; "DOID:9278" . _:12489d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperargininemia"; "OMIM:207800", "Orphanet:90" . _:1248ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperargininemia"; rdfs:comment "preferred label from MONDO" . _:1248bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arg1 deficiency"; "OMIM:207800" . _:1248cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90" . a owl:Class; rdfs:subClassOf ; "GPA"@en; "A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia."@en; "orphanet"@en; "ICD-10:M31.3", "MeSH:D014890", "MedDRA:10047888", "OMIM:608710", "UMLS:C0043092", "UMLS:C3495801"; rdfs:label "Granulomatosis with polyangiitis"@en; "ORPHA:900" . _:1248dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1248ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014890"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1248fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047888"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12490d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608710"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12491d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043092"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12492d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495801"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Inflammatory pseudotumor of the liver"@en; "Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion."@en; "orphanet"@en; "ICD-10:K75.8"; rdfs:label "IgG4-related hepatopathy"@en; "ORPHA:90003" . _:12493d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:K75.8"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "D+HUS"@en, "Hemolytic-uremic syndrome with diarrhea"@en, "Shiga-like toxin-associated HUS"@en, "Stx-HUS"@en, "Typical HUS"@en; "Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli."@en; "orphanet"@en; "ICD-10:D59.3", "OMIM:235400"; rdfs:label "Typical hemolytic-uremic syndrome"@en; "ORPHA:90038" . _:12494d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12495d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:235400"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "ROP"@en, "Retrolental fibroplasia"@en; "Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization."@en; "orphanet"@en; "ICD-10:H35.1", "MeSH:D012178", "MedDRA:10038933", "OMIM:133780", "UMLS:C0035344"; rdfs:label "Retinopathy of prematurity"@en; "ORPHA:90050" . _:12496d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H35.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12497d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012178"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12498d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10038933"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12499d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:133780"; "NTBT (narrower term maps to a broader term)"@en . _:1249ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035344"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:J98.4"; rdfs:label "Diffuse alveolar hemorrhage"@en; "ORPHA:90060" . _:1249bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J98.4"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Systemic scleroderma"@en; "Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms)."@en; "orphanet"@en; "ICD-10:M34.0", "ICD-10:M34.1", "ICD-10:M34.2", "ICD-10:M34.8", "ICD-10:M34.9", "MedDRA:10042953", "OMIM:181750", "UMLS:C0036421"; rdfs:label "Systemic sclerosis"@en; "ORPHA:90291" . _:1249cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M34.0"; "BTNT (broader term maps to a narrower term)"@en . _:1249dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M34.1"; "BTNT (broader term maps to a narrower term)"@en . _:1249ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M34.2"; "BTNT (broader term maps to a narrower term)"@en . _:1249fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M34.8"; "BTNT (broader term maps to a narrower term)"@en . _:124a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M34.9"; "BTNT (broader term maps to a narrower term)"@en . _:124a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10042953"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:181750"; "BTNT (broader term maps to a narrower term)"@en . _:124a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036421"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)."; , ; , , , , , ; "Hereditary von Willebrand disease"@en; "von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)."@en; "orphanet", "orphanet"@en; "vascular hemophilia", "von Willebrand disease", "von Willebrand disorder", "von Willebrand's-Jurgens' disease", "von Willebrand-Jurgens disease"; "DOID:12531", "GARD:0007867", "ICD-10:D68.0", "ICD10:D68.0", "ICD10:D69.8", "ICD9:286.4", "MESH:C531844", "MONDO:0019565", "MSH:D014842", "MeSH:D014842", "MedDRA:10047715", "OMIM:193400", "OMIM:277480", "OMIM:314560", "OMIM:613554", "SCTID:234446004", "UMLS:C0042974"; "Hereditary von Willebrand disease", "congenital von willebrand's disease", "hereditary von Willebrand disease", "hereditary von Willebrand disease (hereditary or acquired)", "vascular pseudohemophilia", "von Willebrand-Jrgens disease"; "congenital von willebrand disease", "von Willebrand's disease"; "Orphanet:903"; ; rdfs:label "Von Willebrand disease", "Von Willebrand disease"@en; "ORPHA:903" . _:124a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)."; "Orphanet:903" . _:124a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular hemophilia"; "CSP2005:0438-9190", "DOID:12531" . _:124a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand disease"; "DOID:12531", "Orphanet:903" . _:124a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand disorder"; "DOID:12531" . _:124a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand's-Jurgens' disease"; "DOID:12531", "MTHICD9_2006:286.4" . _:124a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand-Jurgens disease"; "DOID:12531" . _:124aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12531"; "MONDO:equivalentTo" . _:124abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007867"; "MONDO:equivalentTo" . _:124acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124add a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid30970; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid30970 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D68.0"; "Specific code (The term has its own code in the ICD10)"@en . _:124aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D68.0"; "DOID:12531", "MONDO:subClassOf", "ORDO:903/e", "ORDO:903/specific", "Orphanet:903" . _:124afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D69.8"; "DOID:12531" . _:124b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286.4"; "DOID:12531", "MONDO:subClassOf" . _:124b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C531844"; "MONDO:equivalentTo" . _:124b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014842"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047715"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047715"; "ORDO:903/e", "Orphanet:903" . _:124b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:193400"; "BTNT (broader term maps to a narrower term)"@en . _:124b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277480"; "BTNT (broader term maps to a narrower term)"@en . _:124b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:314560"; "BTNT (broader term maps to a narrower term)"@en . _:124b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613554"; "BTNT (broader term maps to a narrower term)"@en . _:124b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234446004"; "MONDO:equivalentTo" . _:124bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042974"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0042974"; "DOID:12531", "MONDO:equivalentTo", "NCIT:C68677", "ORDO:903/e", "Orphanet:903" . _:124bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary von Willebrand disease"; rdfs:comment "preferred label from MONDO" . _:124bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary von Willebrand disease (hereditary or acquired)"; "MONDO:patterns/hereditary" . _:124bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vascular pseudohemophilia"; "DOID:12531", "MTHICD9_2006:287.8" . _:124bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand-Jrgens disease"; "DOID:12531" . _:124c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "von Willebrand's disease"; "DOID:12531" . _:124c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:903" . a owl:Class; rdfs:subClassOf , , , , ; "This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy."; , , , ; "This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy."@en; "orphanet"@en; "GARD:0000453", "MESH:C536000", "MONDO:0008696", "OMIM:200170", "UMLS:C1860215"; "acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"; "acanthosis nigricans muscle cramps acral enlargement", "acanthosis nigricans with muscle cramps and acral enlargement", "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps"; "Orphanet:90301"; ; rdfs:label "Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement", "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"@en; "ORPHA:90301" . _:124c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy."; "Orphanet:90301" . _:124c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000453"; "MONDO:equivalentTo", "OMIM-shared" . _:124c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536000"; "MONDO:equivalentTo", "MONDO:ontobio" . _:124c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:200170"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:200170"; "MONDO:equivalentTo", "ORDO:90301/e", "Orphanet:90301" . _:124c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1860215"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:200170" . _:124c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"; rdfs:comment "preferred label from MONDO" . _:124c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acanthosis nigricans muscle cramps acral enlargement"; "GARD:0000453" . _:124cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acanthosis nigricans with muscle cramps and acral enlargement"; "OMIM:200170" . _:124cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps"; "GARD:0000453" . _:124ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90301" . a owl:Class; rdfs:subClassOf , , , , , , , , , ; "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease."; , , , , , , , ; , , , ; "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease."@en; "orphanet", "orphanet"@en; "DOID:0050678", "GARD:0000304", "ICD9:692.9", "ICD9:714.89", "MESH:C538157", "MONDO:0008523", "MedDRA:10071755", "NCIT:C116794", "OMIM:186580", "OMIM:609464", "SCTID:699861000", "UMLS:C1861303"; "Blau syndrome", "Jabs syndrome", "arthrocutaneouveal granulomatosis", "pediatric granulomatous arthritis"; "ACUG", "BLAUS", "Blau syndrome; BLAUS", "granulomatosis, familial juvenile systemic", "granulomatosis, familial, Blau type", "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial", "synovitis granulomatous with uveitis and cranial neuropathies", "synovitis, granulomatous, with uveitis and cranial neuropathies"; "Orphanet:90340"; , ; rdfs:label "Blau syndrome", "Blau syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/304/blau-syndrome"^^xsd:anyURI; "ORPHA:90340" . _:124cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease."; "Orphanet:90340" . _:124ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:0050678", "linkedlifedata" . _:124cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MONDO:Redundant", "NCIT:C116794" . _:124d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90340" . _:124d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90340" . _:124d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050678"; "MONDO:equivalentTo" . _:124d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000304"; "MONDO:equivalentTo" . _:124d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:692.9"; "MONDO:relatedTo", "i2s" . _:124d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:714.89"; "MONDO:relatedTo", "i2s" . _:124d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538157"; "MONDO:equivalentTo" . _:124d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071755"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10071755"; "ORDO:90340/e", "Orphanet:90340" . _:124d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C116794"; "DOID:0050678", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:124dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:186580"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:186580"; "DOID:0050678", "MONDO:equivalentTo", "ORDO:90340/e", "Orphanet:90340" . _:124dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609464"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:124ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:699861000"; "DOID:0050678", "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.12" . _:124ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1861303"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1861303"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C116794", "OMIM:186580", "Orphanet:90340" . _:124e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blau syndrome"; "MONDO:Lexical", "OMIM:186580" . _:124e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blau syndrome"; rdfs:comment "preferred label from MONDO" . _:124e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jabs syndrome"; "DOID:0050678", "OMIM:186580" . _:124e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arthrocutaneouveal granulomatosis"; "DOID:0050678", "OMIM:186580" . _:124e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric granulomatous arthritis"; "NCIT:C116794"; . _:124e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACUG"; "GARD:0000304" . _:124e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLAUS"; "MONDO:Lexical", "OMIM:186580" . _:124e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blau syndrome; BLAUS"; "OMIM:186580" . _:124e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "granulomatosis, familial juvenile systemic"; "OMIM:186580" . _:124e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "granulomatosis, familial, Blau type"; "OMIM:186580" . _:124ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial"; "OMIM:186580" . _:124ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "synovitis granulomatous with uveitis and cranial neuropathies"; "GARD:0000304" . _:124ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "synovitis, granulomatous, with uveitis and cranial neuropathies"; "OMIM:186580" . _:124edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000304" . _:124eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90340" . _:124efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/304/blau-syndrome"^^xsd:anyURI; "GARD:0000304" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , , ; "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)"; , , , , , , , ; "Deletion 7q11.23"@en, "Monosomy 7q11.23"@en, "Williams-Beuren syndrome"@en; "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)"@en; "orphanet"@en; "DOID:1928", "GARD:0007891", "ICD-10:Q93.8", "ICD10:Q87.8", "ICD9:759.89", "MESH:D018980", "MONDO:0008678", "MSH:D018980", "MeSH:D018980", "MedDRA:10049644", "NCIT:C85232", "OMIM:194050", "SCTID:63247009", "UMLS:C0175702"; "Deletion 7q11.23", "Fanconi Schlesinger syndrome", "Monosomy 7q11.23", "Williams syndrome", "Williams-Beuren syndrome", "Williams-Beuren syndrome (WBS)", "deletion 7q11.23", "monosomy 7q11.23"; "WBS", "WMS", "Williams-Beuren syndrome; WBS", "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb"; "Orphanet:904"; ; rdfs:label "Williams syndrome", "Williams syndrome"@en; "ORPHA:904" . _:124f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)"; "Orphanet:904" . _:124f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1928"; "MONDO:equivalentTo" . _:124f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007891"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:124f3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31041; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31041 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q93.8"; "Attributed"@en . _:124f3d "NTBT (narrower term maps to a broader term)"@en . _:124f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q93.8"; "NTBT (narrower term maps to a broader term)"@en . _:124f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:904/attributed", "ORDO:904/ntbt", "Orphanet:904" . _:124f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:124f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D018980"; "DOID:1928", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:904/e", "Orphanet:904" . _:124f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018980"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049644"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049644"; "ORDO:904/e", "Orphanet:904" . _:124fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C85232"; "DOID:1928", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/25.79" . _:124fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194050"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:124fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194050"; "DOID:1928", "MONDO:equivalentTo", "ORDO:904/e", "Orphanet:904" . _:124fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:63247009"; "DOID:1928", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/7.43" . _:124ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175702"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12500d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175702"; "DOID:1928", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C85232", "OMIM:194050", "ORDO:904/e", "Orphanet:904" . _:12501d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fanconi Schlesinger syndrome"; "CSP2005:4006-0100", "DOID:1928" . _:12502d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Williams syndrome"; "OMIM:194050" . _:12503d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Williams syndrome"; rdfs:comment "preferred label from MONDO" . _:12504d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Williams-Beuren syndrome"; "MONDO:Lexical", "OMIM:194050", "Orphanet:904" . _:12505d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Williams-Beuren syndrome (WBS)"; "NCIT:C85232" . _:12506d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deletion 7q11.23"; "Orphanet:904" . _:12507d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monosomy 7q11.23"; "Orphanet:904" . _:12508d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WBS"; "MONDO:Lexical", "OMIM:194050" . _:12509d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WMS"; "GARD:0007891" . _:1250ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Williams-Beuren syndrome; WBS"; "OMIM:194050" . _:1250bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb"; "OMIM:194050" . _:1250cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:904" . a owl:Class; rdfs:subClassOf , , , , , , , , , , , , ; "Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body."; , , , , ; , , , , , , , ; "Hepatolenticular degeneration"@en; "Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body."@en; "orphanet"@en; "DOID:893", "GARD:0007893", "ICD-10:E83.0", "ICD10:E83.0", "ICD10:E83.01", "MESH:D006527", "MONDO:0010200", "MSH:D006527", "MeSH:D006527", "MedDRA:10019819", "NCIT:C84756", "OMIM:277900", "SCTID:88518009", "UMLS:C0019202"; "Hepatolenticular degeneration", "Westphal pseudosclerosis", "Westphal-Strumpell syndrome", "Wilson disease", "Wilson's disease", "cerebral pseudosclerosis", "hepatolenticular degeneration"; "WD", "Wnd", "hepatolenticular Degeneration"; "Orphanet:905"; , , ; rdfs:label "Wilson disease", "Wilson disease"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7893/wilson-disease"^^xsd:anyURI; "ORPHA:905" . _:1250dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body."; "Orphanet:905" . _:1250ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:893"; "MONDO:equivalentTo" . _:1250fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007893"; "MONDO:equivalentTo" . _:12510d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31071; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31071 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12511d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.0"; "NTBT (narrower term maps to a broader term)"@en . _:12512d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.0"; "ORDO:905/inclusion", "ORDO:905/ntbt", "Orphanet:905" . _:12513d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.01"; "DOID:893" . _:12514d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006527"; "DOID:893", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:905/e", "Orphanet:905" . _:12515d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006527"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12516d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019819"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12517d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019819"; "ORDO:905/e", "Orphanet:905" . _:12518d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84756"; "DOID:893", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:12519d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277900"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1251ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277900"; "DOID:893", "MONDO:equivalentTo", "ORDO:905/e", "Orphanet:905" . _:1251bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:88518009"; "DOID:893", "MONDO:equivalentTo" . _:1251cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019202"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1251dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019202"; "DOID:893", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84756", "OMIM:277900", "ORDO:905/e", "Orphanet:905" . _:1251ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Westphal pseudosclerosis"; "CSP2005:1849-4349", "DOID:893" . _:1251fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Westphal-Strumpell syndrome"; "DOID:893" . _:12520d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilson disease"; "OMIM:277900" . _:12521d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilson disease"; rdfs:comment "preferred label from MONDO" . _:12522d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wilson's disease"; "DOID:893" . _:12523d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral pseudosclerosis"; "DOID:893" . _:12524d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatolenticular degeneration"; "DOID:893", "Orphanet:905" . _:12525d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WD"; "GARD:0007893" . _:12526d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wnd"; "OMIM:277900" . _:12527d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatolenticular Degeneration"; "OMIM:277900" . _:12528d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007893" . _:12529d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:905" . _:1252ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7893/wilson-disease"^^xsd:anyURI; "GARD:0007893" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies."; , , , , , , , , ; "Eczema-thrombocytopenia-immunodeficiency syndrome"@en, "WAS"@en; "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies."@en; "orphanet", "orphanet"@en; "COHD:440982", "DOID:9169", "GARD:0007895", "ICD-10:D82.0", "ICD10:D82.0", "ICD9:279.12", "MESH:D014923", "MONDO:0010518", "MSH:D014923", "MeSH:D014923", "MedDRA:10047992", "NCIT:C3448", "OMIM:277970", "OMIM:301000", "OMIM:600903", "OMIM:614493", "SCTID:36070007", "UMLS:C0043194"; "Eczema-thrombocytopenia-immunodeficiency syndrome", "WAS", "Wiskott syndrome", "Wiskott-Aldrich syndrome", "eczema-thrombocytopenia-immunodeficiency syndrome", "was"; "Aldrich syndrome", "Imd 2", "MOVED to 614493", "Moved to 614493", "Wiskott Aldrich syndrome", "Wiskott-Aldrich syndrome 1", "Wiskott-Aldrich syndrome; was", "eczema thrombocytopenia immunodeficiency syndrome", "immunodeficiency 2"; "Orphanet:906"; , ; rdfs:label "Wiskott-Aldrich syndrome", "Wiskott-Aldrich syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome"^^xsd:anyURI; "ORPHA:906" . _:1252bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies."; "Orphanet:906" . _:1252cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:440982"; "MONDO:equivalentTo" . _:1252dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9169"; "MONDO:equivalentTo" . _:1252ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007895"; "MONDO:equivalentTo" . _:1252fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12530d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31104; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31104 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.0"; "Specific code (The term has its own code in the ICD10)"@en . _:12531d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D82.0"; "DOID:9169", "MONDO:equivalentTo", "ORDO:906/e", "ORDO:906/specific", "Orphanet:906" . _:12532d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:279.12"; "DOID:9169" . _:12533d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014923"; "DOID:9169", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:906/e", "Orphanet:906" . _:12534d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014923"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12535d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047992"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12536d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10047992"; "ORDO:906/e", "Orphanet:906" . _:12537d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3448"; "DOID:9169", "MONDO:equivalentTo" . _:12538d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277970"; "DOID:9169", "MONDO:equivalentTo", "ORDO:906/btnt", "Orphanet:906" . _:12539d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1253ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:301000"; "DOID:9169", "MONDO:equivalentTo", "ORDO:906/e", "Orphanet:906" . _:1253bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600903"; "BTNT (broader term maps to a narrower term)"@en . _:1253cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614493"; "BTNT (broader term maps to a narrower term)"@en . _:1253dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:36070007"; "DOID:9169", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:1253ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043194"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1253fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043194"; "DOID:9169", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C3448", "OMIM:277970", "OMIM:301000", "ORDO:906/e", "Orphanet:906" . _:12540d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiskott syndrome"; "CSP2005:1849-0285", "DOID:9169" . _:12541d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiskott-Aldrich syndrome"; "MONDO:Lexical", "OMIM:277970", "OMIM:301000" . _:12542d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiskott-Aldrich syndrome"; rdfs:comment "preferred label from MONDO" . _:12543d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eczema-thrombocytopenia-immunodeficiency syndrome"; "OMIM:301000", "Orphanet:906" . _:12544d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "was"; "MONDO:Lexical", "OMIM:301000", "Orphanet:906" . _:12545d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aldrich syndrome"; "OMIM:301000" . _:12546d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Imd 2"; "GARD:0007895" . _:12547d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOVED to 614493"; "OMIM:277970" . _:12548d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Moved to 614493"; "OMIM:277970" . _:12549d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiskott Aldrich syndrome"; "GARD:0007895" . _:1254ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiskott-Aldrich syndrome 1"; "OMIM:301000" . _:1254bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wiskott-Aldrich syndrome; was"; "OMIM:301000" . _:1254cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eczema thrombocytopenia immunodeficiency syndrome"; "GARD:0007895" . _:1254dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 2"; "OMIM:301000" . _:1254ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007895" . _:1254fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:906" . _:12550d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome"^^xsd:anyURI; "GARD:0007895" . a owl:Class; rdfs:subClassOf , , , , ; , , ; "ICD10:H90.3", "MONDO:0019589", "SCTID:232333009", "UMLS:CN206426"; "syndromic genetic deafness"; "syndromic hearing loss"; "Orphanet:90642"; ; rdfs:label "Syndromic genetic deafness" . _:12551d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H90.3"; "ORDO:90642/attributed", "ORDO:90642/ntbt", "Orphanet:90642" . _:12552d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:232333009"; "MONDO:equivalentTo" . _:12553d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206426"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12554d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic genetic deafness"; rdfs:comment "preferred label from MONDO" . _:12555d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90642" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare endocrine growth disease"@en; "ORPHA:90692" . a owl:Class; rdfs:subClassOf ; "Insufficient production of all the anterior pituitary hormones."; , , , , ; , , , , , ; "COHD:30365", "DOID:9410", "ICD-10:E23.0", "ICD10:E23.0", "ICD9:253.2", "MONDO:0019591", "MedDRA:10033662", "NCIT:C110940", "OMIM:262600", "OMIM:312000", "SCTID:32390006", "UMLS:C0242343"; "Simmond's disease", "Simmonds' disease", "complete hypopituitarism", "panhypopituitarism"; "Orphanet:90695"; ; rdfs:label "Panhypopituitarism", "Panhypopituitarism"@en; "ORPHA:90695" . _:12556d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Insufficient production of all the anterior pituitary hormones."; "NCIT:P378" . _:12557d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:30365"; "MONDO:equivalentTo" . _:12558d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9410"; "MONDO:equivalentTo" . _:12559d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31146; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31146 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1255ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:1255bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "DOID:9410", "MONDO:subClassOf", "ORDO:90695/inclusion", "ORDO:90695/ntbt", "Orphanet:90695" . _:1255cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:253.2"; "DOID:9410", "MONDO:equivalentTo", "i2s" . _:1255dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10033662"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1255ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10033662"; "ORDO:90695/e", "Orphanet:90695" . _:1255fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C110940"; "DOID:9410", "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.70/1.72" . _:12560d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:262600"; "BTNT (broader term maps to a narrower term)"@en . _:12561d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312000"; "BTNT (broader term maps to a narrower term)"@en . _:12562d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:32390006"; "DOID:9410", "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.75/1.53" . _:12563d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242343"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12564d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242343"; "DOID:9410", "MONDO:equivalentTo", "NCIT:C110940", "ORDO:90695/e", "Orphanet:90695" . _:12565d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Simmond's disease"; "DOID:9410" . _:12566d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Simmonds' disease"; "CSP2005:2335-9587", "DOID:9410", "MTHICD9_2006:253.2" . _:12567d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complete hypopituitarism"; "NCIT:C110940" . _:12568d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "panhypopituitarism"; rdfs:comment "preferred label from MONDO" . _:12569d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90695" . a owl:Class; rdfs:subClassOf , , ; "DSD"@en; "MeSH:D012734", "MedDRA:10070597", "UMLS:C0036875"; rdfs:label "Disorder of sex development"@en; "ORPHA:90771" . _:1256ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D012734"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1256bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10070597"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1256cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036875"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; , ; "ICD10:E25.0", "MONDO:0019593", "UMLS:CN227655"; "46,XX DSD induced by fetal androgens excess", "46,XX disorder of sex development induced by fetal androgens excess"; "Orphanet:90776"; ; rdfs:label "46,XX disorder of sex development induced by fetal androgens excess" . _:1256dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.0"; "ORDO:90776/attributed", "ORDO:90776/ntbt", "Orphanet:90776" . _:1256ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227655"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:1256fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX DSD induced by fetal androgens excess"; "Orphanet:90776" . _:12570d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XX disorder of sex development induced by fetal androgens excess"; rdfs:comment "preferred label from MONDO" . _:12571d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90776" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0019594", "UMLS:CN227656"; "46,XY DSD due to a testosterone synthesis defect", "46,XY DSD due to due to testosterone synthesis defect", "46,XY disorder of sex development due to a testosterone synthesis defect"; "Orphanet:90783"; ; rdfs:label "46,XY disorder of sex development due to testosterone synthesis defect" . _:12572d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227656"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12573d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to a testosterone synthesis defect"; "Orphanet:90783" . _:12574d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to a testosterone synthesis defect"; rdfs:comment "preferred label from MONDO" . _:12575d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90783" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0019595", "UMLS:CN227657"; "46,XY DSD due to adrenal and testicular steroidogenesis defect", "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect"; "Orphanet:90786"; ; rdfs:label "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect" . _:12576d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227657"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12577d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to adrenal and testicular steroidogenesis defect"; "Orphanet:90786" . _:12578d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect"; rdfs:comment "preferred label from MONDO" . _:12579d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90786" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:E29.1", "MONDO:0019596", "UMLS:CN227658"; "46,XY DSD due to testicular steroidogenesis defect", "46,XY disorder of sex development due to testicular steroidogenesis defect"; "Orphanet:90787"; ; rdfs:label "46,XY disorder of sex development due to testicular steroidogenesis defect" . _:1257ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E29.1"; "ORDO:90787/attributed", "ORDO:90787/ntbt", "Orphanet:90787" . _:1257bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227658"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:1257cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY DSD due to testicular steroidogenesis defect"; "Orphanet:90787" . _:1257dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to testicular steroidogenesis defect"; rdfs:comment "preferred label from MONDO" . _:1257ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90787" . a owl:Class; rdfs:subClassOf , , , , ; "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males."; , , , , ; "CLAH"@en; "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males."@en; "orphanet", "orphanet"@en; "GARD:0001465", "ICD-10:E25.0", "ICD10:E25.0", "MONDO:0008725", "MSH:C537027", "MeSH:C537027", "OMIM:201710", "SCTID:44231009", "UMLS:C0342474"; "CLAH", "congenital lipoid adrenal hyperplasia due to STAR deficency"; "LCAH", "adrenal hyperplasia 1", "congenital adrenal hyperplasia lipoid", "lipoid congenital adrenal hyperplasia", "lipoid congenital adrenal hyperplasia; LCAH", "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism"; "Orphanet:90790"; ; rdfs:label "Congenital lipoid adrenal hyperplasia due to STAR deficency", "Congenital lipoid adrenal hyperplasia due to STAR deficency"@en; "ORPHA:90790" . _:1257fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males."; "Orphanet:90790" . _:12580d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001465"; "MONDO:equivalentTo", "Orphanet-shared" . _:12581d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31187; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31187 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "Attributed"@en . _:12582d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "NTBT (narrower term maps to a broader term)"@en . _:12583d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.0"; "ORDO:90790/attributed", "ORDO:90790/ntbt", "Orphanet:90790" . _:12584d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537027"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12585d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201710"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12586d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201710"; "MONDO:equivalentTo", "ORDO:90790/e", "Orphanet:90790" . _:12587d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:44231009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.77" . _:12588d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342474"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12589d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342474"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:201710", "ORDO:90790/e", "Orphanet:90790" . _:1258ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLAH"; "Orphanet:90790" . _:1258bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital lipoid adrenal hyperplasia due to STAR deficency"; rdfs:comment "preferred label from MONDO" . _:1258cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCAH"; "MONDO:Lexical", "OMIM:201710" . _:1258dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia 1"; "OMIM:201710" . _:1258ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia lipoid"; "GARD:0001465" . _:1258fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid congenital adrenal hyperplasia"; "MONDO:Lexical", "OMIM:201710" . _:12590d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid congenital adrenal hyperplasia; LCAH"; "OMIM:201710" . _:12591d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism"; "OMIM:201710" . _:12592d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90790" . a owl:Class; rdfs:subClassOf , , , , ; "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias."; ; , , , , ; "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency"@en; "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias."@en; "orphanet", "orphanet"@en; "GARD:0009152", "ICD-10:E25.0", "ICD10:E25.0", "MESH:C538236", "MONDO:0008727", "NCIT:C131088", "OMIM:201810", "SCTID:54470008"; "3-beta HSD deficiency", "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency", "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"; "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF", "3-Beta-HSD deficiency", "3-Beta-hydroxysteroid dehydrogenase deficiency", "3b-hydroxysteroid dehydrogenase deficiency", "HSD3B deficiency", "adrenal hyperplasia 2", "adrenal hyperplasia II", "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency", "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency", "type II 3-beta-hydroxysteroid dehydrogenase deficiency"; "Orphanet:90791"; ; rdfs:label "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency", "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"@en; "ORPHA:90791" . _:12593d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias."; "Orphanet:90791" . _:12594d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009152"; "MONDO:equivalentTo", "Orphanet-shared" . _:12595d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31208; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31208 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "Attributed"@en . _:12596d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "NTBT (narrower term maps to a broader term)"@en . _:12597d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.0"; "ORDO:90791/attributed", "ORDO:90791/ntbt", "Orphanet:90791" . _:12598d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538236"; "MONDO:equivalentTo" . _:12599d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131088"; "MONDO:equivalentTo" . _:1259ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201810"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1259bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201810"; "MONDO:equivalentTo", "ORDO:90791/e", "Orphanet:90791" . _:1259cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:54470008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.73" . _:1259dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-beta HSD deficiency"; "NCIT:C131088" . _:1259ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency"; "Orphanet:90791" . _:1259fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"; rdfs:comment "preferred label from MONDO" . _:125a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF"; "OMIM:201810" . _:125a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-Beta-HSD deficiency"; "OMIM:201810" . _:125a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3-Beta-hydroxysteroid dehydrogenase deficiency"; "OMIM:201810" . _:125a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3b-hydroxysteroid dehydrogenase deficiency"; "GARD:0009152" . _:125a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSD3B deficiency"; "GARD:0009152" . _:125a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia 2"; "OMIM:201810" . _:125a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia II"; "GARD:0009152" . _:125a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency"; "OMIM:201810" . _:125a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency"; "OMIM:201810" . _:125a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type II 3-beta-hydroxysteroid dehydrogenase deficiency"; "GARD:0009152" . _:125aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90791" . a owl:Class; rdfs:subClassOf , , , , , , ; "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension."; , ; , , ; "CAH due to 17-alpha-hydroxylase deficiency"@en, "Combined 17-hydroxylase/17,20-lyase deficiency"@en; "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension."@en; "orphanet", "orphanet"@en; "GARD:0001469", "ICD-10:E25.0", "ICD10:E25.0", "ICD9:277.6", "MONDO:0008730", "OMIM:202110", "SCTID:124220008", "UMLS:C0268285"; "CAH due to 17-alpha-hydroxylase deficiency", "combined 17-hydroxylase/17,20-lyase deficiency", "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"; "17,20-lyase deficiency, isolated", "17-Alpha-Hydroxylase deficiency", "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete", "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial", "adrenal hyperplasia 5", "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency", "congenital adrenal hyperplasia type 5"; "Orphanet:90793"; ; rdfs:label "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"@en; "ORPHA:90793" . _:125abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension."; "Orphanet:90793" . _:125acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001469"; "MONDO:equivalentTo", "Orphanet-shared" . _:125add a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31233; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31233 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "Attributed"@en . _:125aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "NTBT (narrower term maps to a broader term)"@en . _:125afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.0"; "ORDO:90793/attributed", "ORDO:90793/ntbt", "Orphanet:90793" . _:125b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.6"; "MONDO:relatedTo", "i2s" . _:125b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202110"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202110"; "MONDO:equivalentTo", "ORDO:90793/e", "Orphanet:90793" . _:125b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124220008"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.76/0.38/0.70" . _:125b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268285"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAH due to 17-alpha-hydroxylase deficiency"; "Orphanet:90793" . _:125b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined 17-hydroxylase/17,20-lyase deficiency"; "Orphanet:90793" . _:125b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"; rdfs:comment "preferred label from MONDO" . _:125b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17,20-lyase deficiency, isolated"; "OMIM:202110" . _:125b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-Alpha-Hydroxylase deficiency"; "OMIM:202110" . _:125bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete"; "OMIM:202110" . _:125bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial"; "OMIM:202110" . _:125bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia 5"; "OMIM:202110" . _:125bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency"; "OMIM:202110" . _:125bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia type 5"; "GARD:0001469" . _:125bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90793" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.", "Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia."; , , , ; , , , , , ; "Classic 21-OHD CAH"@en; "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia."@en; "orphanet", "orphanet"@en; "GARD:0005757", "GARD:0012665", "ICD-10:E25.0", "ICD10:E25.0", "MONDO:0008728", "NCIT:C131087", "OMIM:201910", "SCTID:124221007", "SCTID:717261006", "UMLS:C2936858", "UMLS:C4273964"; "21-OHD", "Classic 21-OHD CAH", "classic 21-OHD CAH", "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"; "21 hydroxylase deficiency", "21-hydroxylase deficiency", "CYP21 deficiency", "adrenal hyperplasia 3", "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency", "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency", "congenital adrenal hyperplasia 1", "congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency"; "Orphanet:90794"; , ; rdfs:label "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"@en; "ORPHA:90794" . _:125c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia."; "Orphanet:90794" . _:125c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005757"; "MONDO:equivalentTo" . _:125c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012665"; "MONDO:equivalentTo", "Orphanet-shared" . _:125c3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31256; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31256 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "Attributed"@en . _:125c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "NTBT (narrower term maps to a broader term)"@en . _:125c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.0"; "ORDO:90794/attributed", "ORDO:90794/ntbt", "Orphanet:90794" . _:125c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131087"; "MONDO:equivalentTo" . _:125c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201910"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201910"; "GARD:0005757", "MONDO:equivalentTo", "ORDO:90794/e", "Orphanet:90794" . _:125c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124221007"; "MONDO:equivalentTo" . _:125cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:717261006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.05" . _:125cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2936858"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4273964"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:125cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "21-OHD"; "NCIT:C131087" . _:125ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic 21-OHD CAH"; "Orphanet:90794" . _:125cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"; rdfs:comment "preferred label from MONDO" . _:125d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "21 hydroxylase deficiency"; "GARD:0005757" . _:125d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "21-hydroxylase deficiency"; "OMIM:201910" . _:125d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CYP21 deficiency"; "GARD:0005757", "OMIM:201910" . _:125d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia 3"; "OMIM:201910" . _:125d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency"; "OMIM:201910" . _:125d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency"; "GARD:0005757" . _:125d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia 1"; "OMIM:201910" . _:125d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia due to 21-hydroxylase deficiency"; "GARD:0005757" . _:125d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency"; "OMIM:201910" . _:125d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90794" . a owl:Class; rdfs:subClassOf , , , ; "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females."; , , , , , , ; "CAH due to 11-beta-hydroxylase deficiency"@en, "CYP11B1 deficiency"@en; "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females."@en; "orphanet", "orphanet"@en; "GARD:0005658", "ICD-10:E25.0", "ICD10:E25.0", "ICD9:277.6", "MESH:C535978", "MONDO:0008729", "MSH:C535978", "MeSH:C535978", "MedDRA:10000002", "NCIT:C131085", "OMIM:202010", "SCTID:124214007", "UMLS:C0268292"; "CAH due to 11-beta-hydroxylase deficiency", "CYP11B1 deficiency", "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"; "11-Beta-Hydroxylase deficiency", "P450C11B1 deficiency", "adrenal hyperplasia 4", "adrenal hyperplasia IV", "adrenal hyperplasia hypertensive form", "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency", "adrenal hyperplasia, hypertensive form", "steroid 11-Beta-Hydroxylase deficiency"; "Orphanet:90795"; ; rdfs:label "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"@en; "ORPHA:90795" . _:125dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females."; "Orphanet:90795" . _:125dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005658"; "MONDO:equivalentTo", "Orphanet-shared" . _:125dcd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31282; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "Attributed"@en . _:125ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "NTBT (narrower term maps to a broader term)"@en . _:125ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.0"; "ORDO:90795/attributed", "ORDO:90795/ntbt", "Orphanet:90795" . _:125dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:277.6"; "MONDO:relatedTo", "i2s" . _:125e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535978"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:90795/e", "Orphanet:90795" . _:125e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535978"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000002"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000002"; "ORDO:90795/e", "Orphanet:90795" . _:125e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131085"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.78" . _:125e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202010"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202010"; "MONDO:equivalentTo", "ORDO:90795/e", "Orphanet:90795" . _:125e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124214007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.66" . _:125e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268292"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268292"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C131085", "OMIM:202010", "ORDO:90795/e", "Orphanet:90795" . _:125ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAH due to 11-beta-hydroxylase deficiency"; "Orphanet:90795" . _:125ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CYP11B1 deficiency"; "Orphanet:90795" . _:125ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"; rdfs:comment "preferred label from MONDO" . _:125edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "11-Beta-Hydroxylase deficiency"; "OMIM:202010" . _:125eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "P450C11B1 deficiency"; "OMIM:202010" . _:125efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia 4"; "OMIM:202010" . _:125f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia IV"; "GARD:0005658" . _:125f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia hypertensive form"; "GARD:0005658" . _:125f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency"; "OMIM:202010" . _:125f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, hypertensive form"; "OMIM:202010" . _:125f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "steroid 11-Beta-Hydroxylase deficiency"; "OMIM:202010" . _:125f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90795" . a owl:Class; rdfs:subClassOf , ; "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels."; ; , ; "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels."@en; "orphanet"@en; "ICD-10:E29.1", "ICD10:E29.1", "MONDO:0019597", "OMIM:202110", "OMIM:614279", "UMLS:C0268285", "UMLS:CN206443"; "46,XY disorder of sex development due to isolated 17,20-lyase deficiency"; "Orphanet:90796"; ; rdfs:label "46,XY disorder of sex development due to isolated 17,20 lyase deficiency", "46,XY disorder of sex development due to isolated 17,20-lyase deficiency"@en; "ORPHA:90796" . _:125f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels."; "Orphanet:90796" . _:125f7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31310; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31310 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E29.1"; "Attributed"@en . _:125f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E29.1"; "NTBT (narrower term maps to a broader term)"@en . _:125f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E29.1"; "ORDO:90796/attributed", "ORDO:90796/ntbt", "Orphanet:90796" . _:125fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:202110"; "NTBT (narrower term maps to a broader term)"@en . _:125fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268285"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:125fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206443"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:125fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to isolated 17,20-lyase deficiency"; rdfs:comment "preferred label from MONDO" . _:125fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90796" . a owl:Class; rdfs:subClassOf , ; "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens."; , ; , , , , , ; "PAIS"@en, "Partial androgen resistance syndrome"@en; "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens."@en; "orphanet", "orphanet"@en; "GARD:0005692", "GTR:AN0098649", "GTR:AN0098650", "GTR:AN0098651", "GTR:AN0098652", "GTR:AN0098654", "GTR:AN0098655", "ICD-10:E34.5", "ICD10:E34.5", "ICD10:E34.52", "MONDO:0010720", "NCIT:C120192", "OMIM:307300", "OMIM:312300", "SCTID:122811000119101", "UMLS:C0268301", "UMLS:C0860159", "UMLS:CN035075"; "PAIS", "Partial androgen resistance syndrome", "pais", "partial androgen insensitivity syndrome", "partial androgen resistance syndrome"; "Reifenstein syndrome", "Reifenstein syndrome, partial", "androgen insensitivity syndrome, partial", "androgen insensitivity, partial", "androgen insensitivity, partial, with or without breast cancer", "androgen insensitivity, partial; pais", "androgen resistance syndrome, partial", "familial incomplete Male pseudohermaphroditism, type 1", "incomplete male pseudohermaphroditism", "type I familial incomplete male pseudohermaphroditism"; "Orphanet:90797"; , ; rdfs:label "Partial androgen insensitivity syndrome", "Partial androgen insensitivity syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome"^^xsd:anyURI; "ORPHA:90797" . _:125ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens."; "Orphanet:90797" . _:12600d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005692"; "MONDO:equivalentTo" . _:12601d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0098649"; "UMLS:CN035075" . _:12602d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0098650"; "UMLS:CN035075" . _:12603d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0098651"; "UMLS:CN035075" . _:12604d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0098652"; "UMLS:CN035075" . _:12605d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0098654"; "UMLS:CN035075" . _:12606d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0098655"; "UMLS:CN035075" . _:12607d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31327; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31327 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.5"; "Attributed"@en . _:12608d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.5"; "NTBT (narrower term maps to a broader term)"@en . _:12609d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.5"; "ORDO:90797/attributed", "ORDO:90797/ntbt", "Orphanet:90797" . _:1260ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.52"; "MONDO:equivalentTo" . _:1260bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120192"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:1260cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:307300"; "MONDO:equivalentObsolete" . _:1260dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1260ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:312300"; "MONDO:equivalentTo", "ORDO:90797/e", "Orphanet:90797" . _:1260fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:122811000119101"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.11" . _:12610d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268301"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12611d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0860159"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12612d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN035075"; "MONDO:equivalentTo" . _:12613d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pais"; "GTR:AN0098652", "MONDO:Lexical", "OMIM:312300", "Orphanet:90797" . _:12614d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial androgen insensitivity syndrome"; rdfs:comment "preferred label from MONDO" . _:12615d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial androgen resistance syndrome"; "Orphanet:90797" . _:12616d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reifenstein syndrome"; "OMIM:312300" . _:12617d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reifenstein syndrome, partial"; "GARD:0005692", "GTR:AN0098654" . _:12618d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen insensitivity syndrome, partial"; "GARD:0005692", "GTR:AN0098649" . _:12619d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen insensitivity, partial"; "MONDO:Lexical", "OMIM:312300" . _:1261ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen insensitivity, partial, with or without breast cancer"; "OMIM:312300" . _:1261bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen insensitivity, partial; pais"; "OMIM:312300" . _:1261cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen resistance syndrome, partial"; "GARD:0005692", "GTR:AN0098650" . _:1261dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial incomplete Male pseudohermaphroditism, type 1"; "OMIM:312300" . _:1261ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "incomplete male pseudohermaphroditism"; "GTR:AN0098651" . _:1261fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type I familial incomplete male pseudohermaphroditism"; "GTR:AN0098655" . _:12620d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005692" . _:12621d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:90797" . _:12622d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome"^^xsd:anyURI; "GARD:0005692" . a owl:Class; rdfs:subClassOf , , , , , ; "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men."; ; , , , , ; "Congenital estrogen deficiency"@en; "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men."@en; "orphanet", "orphanet"@en; "GARD:0000365", "ICD-10:E25.8", "ICD10:E25.8", "MESH:C537436", "MONDO:0013301", "MSH:C537436", "MeSH:C537436", "OMIM:613546", "UMLS:C0853662", "UMLS:C0878680", "UMLS:C1960539"; "Congenital estrogen deficiency", "aromatase deficiency", "congenital estrogen deficiency"; "pseudohermaphroditism, female, due to placental aromatase deficiency"; "Orphanet:91"; , ; rdfs:label "Aromatase deficiency", "Aromatase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency"^^xsd:anyURI; "ORPHA:91" . _:12623d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men."; "Orphanet:91" . _:12624d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000365"; "MONDO:equivalentTo" . _:12625d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31358; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31358 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.8"; "Attributed"@en . _:12626d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.8"; "NTBT (narrower term maps to a broader term)"@en . _:12627d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.8"; "ORDO:91/attributed", "ORDO:91/ntbt", "Orphanet:91" . _:12628d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537436"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:91/e", "Orphanet:91" . _:12629d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537436"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1262ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613546"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1262bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613546"; "MONDO:equivalentTo", "ORDO:91/e", "Orphanet:91" . _:1262cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0853662"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1262dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0878680"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1262ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1960539"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1262fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1960539"; "MONDO:equivalentTo", "OMIM:613546", "Orphanet:91" . _:12630d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aromatase deficiency"; "OMIM:613546" . _:12631d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "aromatase deficiency"; rdfs:comment "preferred label from MONDO" . _:12632d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital estrogen deficiency"; "Orphanet:91" . _:12633d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohermaphroditism, female, due to placental aromatase deficiency"; "OMIM:613546" . _:12634d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000365" . _:12635d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:91" . _:12636d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency"^^xsd:anyURI; "GARD:0000365" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)."; , , , , , , ; "XP"@en; "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)."@en; "orphanet", "orphanet"@en; "DOID:0050427", "GARD:0007910", "ICD-10:Q82.1", "ICD10:Q82.1", "MESH:D014983", "MONDO:0019600", "MSH:D014983", "MeSH:D014983", "MedDRA:10048220", "NCIT:C3452", "OMIM:194400", "OMIM:278700", "OMIM:278720", "OMIM:278730", "OMIM:278740", "OMIM:278750", "OMIM:278760", "OMIM:278780", "OMIM:278800", "OMIM:610651", "SCTID:44600005", "UMLS:C0043346"; "Kaposi dermatosis", "Kaposi disease", "XP", "angioma pigmentosum atrophicum", "atrophoderma pigmentosum", "melanosis lenticularis progressiva", "pigmented epitheliomatosis", "xeroderma of Kaposi", "xeroderma pigmentosum", "xeroderma pigmentosum syndrome"; "xeroderma pigmentosa"; "Orphanet:910"; , ; rdfs:label "Xeroderma pigmentosum", "Xeroderma pigmentosum"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum"^^xsd:anyURI; "ORPHA:910" . _:12637d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)."; "Orphanet:910" . _:12638d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050427"; "MONDO:equivalentTo" . _:12639d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007910"; "MONDO:equivalentTo" . _:1263ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1263bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31381; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31381 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.1"; "Specific code (The term has its own code in the ICD10)"@en . _:1263cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.1"; "DOID:0050427", "MONDO:equivalentTo", "ORDO:910/e", "ORDO:910/specific", "Orphanet:910" . _:1263dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D014983"; "DOID:0050427", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:910/e", "Orphanet:910" . _:1263ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D014983"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1263fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048220"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12640d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048220"; "ORDO:910/e", "Orphanet:910" . _:12641d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3452"; "DOID:0050427", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12642d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:194400"; "W (incorrect mapping (two different concepts)"@en . _:12643d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278700"; "BTNT (broader term maps to a narrower term)"@en . _:12644d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278720"; "BTNT (broader term maps to a narrower term)"@en . _:12645d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278730"; "BTNT (broader term maps to a narrower term)"@en . _:12646d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278740"; "BTNT (broader term maps to a narrower term)"@en . _:12647d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278760"; "BTNT (broader term maps to a narrower term)"@en . _:12648d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278780"; "BTNT (broader term maps to a narrower term)"@en . _:12649d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:278800"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1264ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610651"; "BTNT (broader term maps to a narrower term)"@en . _:1264bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:44600005"; "DOID:0050427", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:1264cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043346"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1264dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0043346"; "DOID:0050427", "MONDO:equivalentTo", "NCIT:C3452", "ORDO:910/e", "Orphanet:910" . _:1264ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kaposi dermatosis"; "NCIT:C3452" . _:1264fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kaposi disease"; "NCIT:C3452" . _:12650d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XP"; "Orphanet:910" . _:12651d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioma pigmentosum atrophicum"; "NCIT:C3452" . _:12652d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "atrophoderma pigmentosum"; "NCIT:C3452" . _:12653d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "melanosis lenticularis progressiva"; "NCIT:C3452" . _:12654d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmented epitheliomatosis"; "NCIT:C3452" . _:12655d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xeroderma of Kaposi"; "NCIT:C3452" . _:12656d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xeroderma pigmentosum"; rdfs:comment "preferred label from MONDO" . _:12657d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xeroderma pigmentosum syndrome"; "NCIT:C3452" . _:12658d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "xeroderma pigmentosa"; "GARD:0007910" . _:12659d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007910" . _:1265ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:910" . _:1265bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum"^^xsd:anyURI; "GARD:0007910" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0019602", "UMLS:CN206450"; "other inborn metabolic disease"; "other metabolic disease"; "Orphanet:91088"; , ; rdfs:label "Other metabolic disease" . _:1265cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206450"; "MONDO:equivalentTo" . _:1265dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "other inborn metabolic disease"; rdfs:comment "preferred label from MONDO" . _:1265ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "other metabolic disease"; "Orphanet:91088" . _:1265fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:91088" . a owl:Class; rdfs:subClassOf , ; "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction."; , ; , , , ; "Zeta-associated-protein 70 deficiency"@en; "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction."@en; "orphanet"@en; "GARD:0000387", "ICD-10:D81.8", "ICD10:D81.8", "MESH:C536722", "MONDO:0010023", "OMIM:269840", "SCTID:716378008", "UMLS:C2931299"; "Zeta-associated-protein 70 deficiency", "combined immunodeficiency due to ZAP70 deficiency", "zeta-associated-protein 70 deficiency"; "IMD48", "STCD", "ZAP-70 deficiency", "immunodeficiency 48", "immunodeficiency 48; IMD48", "selective T-cell defect", "selective T-cell defect; STCD", "severe combined immunodeficiency due to ZAP70 deficiency"; "Orphanet:911"; ; rdfs:label "Combined immunodeficiency due to ZAP70 deficiency", "Combined immunodeficiency due to ZAP70 deficiency"@en; "ORPHA:911" . _:12660d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction."; "Orphanet:911" . _:12661d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000387"; "MONDO:equivalentTo", "Orphanet-shared" . _:12662d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31421; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31421 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "Attributed"@en . _:12663d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D81.8"; "NTBT (narrower term maps to a broader term)"@en . _:12664d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D81.8"; "ORDO:911/attributed", "ORDO:911/ntbt", "Orphanet:911" . _:12665d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536722"; "MONDO:equivalentTo", "MONDO:ontobio" . _:12666d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:269840"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12667d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:269840"; "MONDO:equivalentTo", "ORDO:911/e", "Orphanet:911" . _:12668d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:716378008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12669d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931299"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1266ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined immunodeficiency due to ZAP70 deficiency"; rdfs:comment "preferred label from MONDO" . _:1266bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "zeta-associated-protein 70 deficiency"; "Orphanet:911" . _:1266cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMD48"; "OMIM:269840" . _:1266dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STCD"; "MONDO:Lexical", "OMIM:269840" . _:1266ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ZAP-70 deficiency"; "GARD:0000387" . _:1266fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 48"; "OMIM:269840" . _:12670d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "immunodeficiency 48; IMD48"; "OMIM:269840" . _:12671d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective T-cell defect"; "MONDO:Lexical", "OMIM:269840" . _:12672d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "selective T-cell defect; STCD"; "OMIM:269840" . _:12673d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe combined immunodeficiency due to ZAP70 deficiency"; "GARD:0000387" . _:12674d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:911" . a owl:Class; rdfs:subClassOf ; "46,XX DSD induced by maternal-derived androgen"@en; "ICD-10:Q56.2"; rdfs:label "46,XX disorder of sex development induced by maternal-derived androgen"@en; "ORPHA:91144" . _:12675d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q56.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Pituitary thyrotrophic adenoma"@en, "TSH-oma"@en, "Thyroid stimulating hormone-secreting pituitary adenoma"@en, "Thyrotroph adenoma"@en; "A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symtoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly."@en; "orphanet"@en; "ICD-10:D35.2", "UMLS:C0346303"; rdfs:label "TSH-secreting pituitary adenoma"@en; "ORPHA:91347" . _:12676d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . _:12677d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0346303"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Functioning pituitary gonadotropic adenoma"@en, "Gonadotroph adenoma"@en; "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)."@en; "orphanet"@en; "ICD-10:D35.2", "UMLS:C0346304"; rdfs:label "Functioning gonadotropic adenoma"@en; "ORPHA:91348" . _:12678d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . _:12679d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0346304"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "NFPA"@en; "ICD-10:D35.2", "UMLS:C0338078"; rdfs:label "Non-functioning pituitary adenoma"@en; "ORPHA:91349" . _:1267ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . _:1267bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0338078"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "CPI"@en; "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term)."@en; "orphanet"@en; "ICD-10:J84.0"; rdfs:label "Chronic pneumonitis of infancy"@en; "ORPHA:91359" . _:1267cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J84.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "NSIP"@en, "Non-specific idiopathic interstitial pneumonia"@en; "ICD-10:J84.8", "UMLS:C1290344"; rdfs:label "Non-specific interstitial pneumonia"@en; "ORPHA:91364" . _:1267dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J84.8"; "NTBT (narrower term maps to a broader term)"@en . _:1267ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1290344"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain."; , , , , , , , ; "Familial angioneurotic edema"@en, "HAE"@en, "Hereditary angioneurotic edema"@en, "Hereditary bradykinine-induced angioedema"@en, "Hereditary non histamine-induced angioedema"@en; "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain."@en; "orphanet", "orphanet"@en; "DOID:14735", "GARD:0005979", "ICD-10:D84.1", "ICD10:D84.1", "MESH:D054179", "MONDO:0019623", "MedDRA:10019860", "NCIT:C84758", "OMIM:106100", "OMIM:610618", "SCTID:82966003", "UMLS:C0019243", "UMLS:CN239191"; "Familial angioneurotic edema", "HAE", "HANE", "Hereditary angioneurotic edema", "Hereditary bradykinine-induced angioedema", "Hereditary non histamine-induced angioedema", "familial angioneurotic edema", "hereditary angioedema", "hereditary angioneurotic edema", "hereditary bradykinine-induced angioedema", "hereditary non histamine-induced angioedema"; "angioedema, hereditary", "deficiency of C1 esterase inhibitor"; "Orphanet:91378"; ; rdfs:label "Hereditary angioedema", "Hereditary angioedema"@en; "ORPHA:91378" . _:1267fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain."; "Orphanet:91378" . _:12680d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:14735"; "MONDO:equivalentTo" . _:12681d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005979"; "MONDO:equivalentTo", "Orphanet-shared" . _:12682d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31454; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31454 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12683d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.1"; "NTBT (narrower term maps to a broader term)"@en . _:12684d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.1"; "ORDO:91378/inclusion", "ORDO:91378/ntbt", "Orphanet:91378" . _:12685d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D054179"; "DOID:14735", "MONDO:equivalentTo" . _:12686d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019860"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12687d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10019860"; "ORDO:91378/e", "Orphanet:91378" . _:12688d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84758"; "DOID:14735", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:12689d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:106100"; "BTNT (broader term maps to a narrower term)"@en . _:1268ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610618"; "BTNT (broader term maps to a narrower term)"@en . _:1268bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:82966003"; "DOID:14735", "MONDO:equivalentTo" . _:1268cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019243"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1268dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019243"; "DOID:14735", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C84758", "Orphanet:91378" . _:1268ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239191"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:1268fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAE"; "Orphanet:91378" . _:12690d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HANE"; "CSP2005:1849-1576", "DOID:14735" . _:12691d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial angioneurotic edema"; "Orphanet:91378" . _:12692d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angioedema"; "DOID:14735", "MONDO:patterns/hereditary", "MTHICD9_2006:277.6" . _:12693d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angioedema"; rdfs:comment "preferred label from MONDO" . _:12694d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary angioneurotic edema"; "Orphanet:91378" . _:12695d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary bradykinine-induced angioedema"; "Orphanet:91378" . _:12696d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary non histamine-induced angioedema"; "Orphanet:91378" . _:12697d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "angioedema, hereditary"; "GARD:0005979" . _:12698d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deficiency of C1 esterase inhibitor"; "GARD:0005979" . _:12699d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:91378" . a owl:Class; rdfs:subClassOf ; "AAE"@en, "Acquired C1 inhibitor deficiency"@en, "Acquired angioneurotic edema"@en, "Acquired bradykinine-induced angioedema"@en, "Acquired non histamine-induced angioedema"@en; "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency."@en; "orphanet"@en; "ICD-10:T78.3", "MeSH:C538173", "OMIM:300909", "UMLS:C2931758"; rdfs:label "Acquired angioedema"@en; "ORPHA:91385" . _:1269ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:T78.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1269bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538173"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1269cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300909"; "BTNT (broader term maps to a narrower term)"@en . _:1269dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931758"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected."@en; "orphanet"@en; "ICD-10:Q12.0", "ICD10:Q12.0", "OMIM:110800", "OMIM:115650", "OMIM:115660", "OMIM:115665", "OMIM:115700", "OMIM:115800", "OMIM:115900", "OMIM:116100", "OMIM:116200", "OMIM:116300", "OMIM:116400", "OMIM:116600", "OMIM:116700", "OMIM:116800", "OMIM:212500", "OMIM:302200", "OMIM:600881", "OMIM:601202", "OMIM:601371", "OMIM:601547", "OMIM:601885", "OMIM:604219", "OMIM:604307", "OMIM:605387", "OMIM:605728", "OMIM:605749", "OMIM:607304", "OMIM:609376", "OMIM:609741", "OMIM:610019", "OMIM:610202", "OMIM:610425", "OMIM:610623", "OMIM:611391", "OMIM:611544", "OMIM:611597", "OMIM:612968", "OMIM:613763", "OMIM:613887", "OMIM:614422", "OMIM:614691", "OMIM:615188", "OMIM:615274", "OMIM:615277", "OMIM:616279", "OMIM:616509", "OMIM:616851"; rdfs:label "Early-onset non-syndromic cataract"@en, "Non-syndromic congenital cataract"; "ORPHA:91492" . _:1269ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q12.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1269fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31484; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31484 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q12.0"; "Specific code (The term has its own code in the ICD10)"@en . _:126a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115650"; "BTNT (broader term maps to a narrower term)"@en . _:126a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115660"; "BTNT (broader term maps to a narrower term)"@en . _:126a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115665"; "BTNT (broader term maps to a narrower term)"@en . _:126a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115700"; "BTNT (broader term maps to a narrower term)"@en . _:126a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115800"; "BTNT (broader term maps to a narrower term)"@en . _:126a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:115900"; "BTNT (broader term maps to a narrower term)"@en . _:126a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:116100"; "BTNT (broader term maps to a narrower term)"@en . _:126a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:116200"; "BTNT (broader term maps to a narrower term)"@en . _:126a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:116300"; "BTNT (broader term maps to a narrower term)"@en . _:126a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:116400"; "BTNT (broader term maps to a narrower term)"@en . _:126aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:116600"; "BTNT (broader term maps to a narrower term)"@en . _:126abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:116700"; "BTNT (broader term maps to a narrower term)"@en . _:126acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:116800"; "BTNT (broader term maps to a narrower term)"@en . _:126add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:212500"; "BTNT (broader term maps to a narrower term)"@en . _:126aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:302200"; "BTNT (broader term maps to a narrower term)"@en . _:126afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600881"; "BTNT (broader term maps to a narrower term)"@en . _:126b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601202"; "BTNT (broader term maps to a narrower term)"@en . _:126b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601547"; "BTNT (broader term maps to a narrower term)"@en . _:126b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601885"; "BTNT (broader term maps to a narrower term)"@en . _:126b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604219"; "BTNT (broader term maps to a narrower term)"@en . _:126b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:604307"; "BTNT (broader term maps to a narrower term)"@en . _:126b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605387"; "BTNT (broader term maps to a narrower term)"@en . _:126b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605728"; "BTNT (broader term maps to a narrower term)"@en . _:126b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:605749"; "BTNT (broader term maps to a narrower term)"@en . _:126b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:607304"; "BTNT (broader term maps to a narrower term)"@en . _:126b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609376"; "BTNT (broader term maps to a narrower term)"@en . _:126bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609741"; "BTNT (broader term maps to a narrower term)"@en . _:126bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610019"; "BTNT (broader term maps to a narrower term)"@en . _:126bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610202"; "BTNT (broader term maps to a narrower term)"@en . _:126bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610425"; "BTNT (broader term maps to a narrower term)"@en . _:126bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610623"; "BTNT (broader term maps to a narrower term)"@en . _:126bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611391"; "BTNT (broader term maps to a narrower term)"@en . _:126c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611544"; "BTNT (broader term maps to a narrower term)"@en . _:126c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611597"; "NTBT (narrower term maps to a broader term)"@en . _:126c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613763"; "BTNT (broader term maps to a narrower term)"@en . _:126c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614422"; "BTNT (broader term maps to a narrower term)"@en . _:126c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614691"; "BTNT (broader term maps to a narrower term)"@en . _:126c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615188"; "BTNT (broader term maps to a narrower term)"@en . _:126c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615274"; "BTNT (broader term maps to a narrower term)"@en . _:126c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615277"; "BTNT (broader term maps to a narrower term)"@en . _:126c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616279"; "BTNT (broader term maps to a narrower term)"@en . _:126c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616509"; "BTNT (broader term maps to a narrower term)"@en . _:126cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616851"; "BTNT (broader term maps to a narrower term)"@en . a owl:Class; rdfs:subClassOf , , , , , , , , ; "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature."; "Aarskog syndrome"@en, "Faciodigitogenital syndrome"@en, "Faciogenital dysplasia"@en; "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature."@en; "orphanet", "orphanet"@en; "ICD-10:Q87.1", "ICD10:Q87.1", "MedDRA:10067148", "OMIM:100050", "OMIM:305400", "UMLS:C0175701"; "Aarskog syndrome", "Faciodigitogenital syndrome", "Faciogenital dysplasia"; rdfs:label "Aarskog-Scott syndrome", "Aarskog-Scott syndrome"@en; "ORPHA:915" . _:126cbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31529; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31529 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:126ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:126cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067148"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:100050"; "BTNT (broader term maps to a narrower term)"@en . _:126cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:305400"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175701"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Juvenile chronic arthritis"@en, "Juvenile rheumatoid arthritis"@en; "A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin."@en; "orphanet"@en; "ICD-10:M08.0", "ICD-10:M08.1", "ICD-10:M08.2", "ICD-10:M08.3", "ICD-10:M08.4", "ICD-10:M08.8", "ICD-10:M08.9", "MeSH:D001171", "MedDRA:10059177", "UMLS:C0553662", "UMLS:C1444838", "UMLS:C3495559"; rdfs:label "Juvenile idiopathic arthritis"@en; "ORPHA:92" . _:126d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.0"; "BTNT (broader term maps to a narrower term)"@en . _:126d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.1"; "BTNT (broader term maps to a narrower term)"@en . _:126d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.2"; "BTNT (broader term maps to a narrower term)"@en . _:126d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.3"; "BTNT (broader term maps to a narrower term)"@en . _:126d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.4"; "BTNT (broader term maps to a narrower term)"@en . _:126d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.8"; "BTNT (broader term maps to a narrower term)"@en . _:126d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M08.9"; "BTNT (broader term maps to a narrower term)"@en . _:126d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001171"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059177"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0553662"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1444838"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495559"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia."; ; , , , , ; "NAGS deficiency"@en; "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia."@en; "orphanet"@en; "GARD:0007158", "ICD-10:E72.2", "ICD10:E72.2", "MESH:C536109", "MONDO:0009377", "NCIT:C129307", "OMIM:237310", "SCTID:57119000", "UMLS:C0268543"; "NAGS deficiency", "hyperammonemia due to N-acetylglutamate synthase deficiency"; "N-acetyl glutamate synthetase deficiency", "N-acetylglutamate synthase deficiency", "N-acetylglutamate synthase deficiency; NAGSD", "N-acetylglutamate synthetase deficiency", "NAG synthetase deficiency", "NAGSD", "Nags deficiency", "hyperammonemia due to N-acetylglutamate synthetase deficiency"; "Orphanet:927"; ; rdfs:label "Hyperammonemia due to N-acetylglutamate synthase deficiency"@en, "Hyperammonemia due to N-acetylglutamate synthetase deficiency"; "ORPHA:927" . _:126ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia."; "Orphanet:927" . _:126ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007158"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:126dfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31550; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31550 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "Attributed"@en . _:126e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E72.2"; "NTBT (narrower term maps to a broader term)"@en . _:126e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E72.2"; "ORDO:927/attributed", "ORDO:927/ntbt", "Orphanet:927" . _:126e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536109"; "MONDO:equivalentTo", "MONDO:ontobio" . _:126e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C129307"; "MONDO:equivalentTo" . _:126e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:237310"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:237310"; "MONDO:equivalentTo", "ORDO:927/e", "Orphanet:927" . _:126e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:57119000"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.81/0.44/0.91" . _:126e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268543"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAGS deficiency"; "Orphanet:927" . _:126e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperammonemia due to N-acetylglutamate synthase deficiency"; rdfs:comment "preferred label from MONDO" . _:126ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "N-acetyl glutamate synthetase deficiency"; "GARD:0007158" . _:126ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "N-acetylglutamate synthase deficiency"; "MONDO:Lexical", "OMIM:237310" . _:126ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "N-acetylglutamate synthase deficiency; NAGSD"; "OMIM:237310" . _:126edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "N-acetylglutamate synthetase deficiency"; "OMIM:237310" . _:126eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAG synthetase deficiency"; "GARD:0007158" . _:126efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAGSD"; "MONDO:Lexical", "OMIM:237310" . _:126f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nags deficiency"; "OMIM:237310" . _:126f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperammonemia due to N-acetylglutamate synthetase deficiency"; "OMIM:237310" . _:126f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:927" . a owl:Class; rdfs:subClassOf , ; "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.", "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied."; , ; , , , ; "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied."@en; "orphanet", "orphanet"@en; "DOID:0080204", "HP:0000089", "ICD-10:Q60.3", "ICD-10:Q60.4", "ICD-10:Q60.5", "ICD10:Q60.3", "ICD10:Q60.4", "ICD10:Q60.5", "MONDO:0019637", "MedDRA:10049102", "SCTID:32659003", "UMLS:C0266295", "UMLS:C2608080"; "renal hypoplasia", "renal hypoplasia (disease)"; "Orphanet:93101"; ; rdfs:label "Renal hypoplasia", "Renal hypoplasia"@en; "ORPHA:93101" . _:126f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied."; "Orphanet:93101" . _:126f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080204"; "MONDO:equivalentTo" . _:126f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000089"; "MONDO:otherHierarchy", "ontobio" . _:126f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.3"; "Specific code (The term has its own code in the ICD10)"@en . _:126f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.4"; "Specific code (The term has its own code in the ICD10)"@en . _:126fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.5"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:126fbd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31579; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31579 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q60.5"; "Specific code (The term has its own code in the ICD10)"@en . _:126fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q60.3"; "MONDO:superClassOf", "ORDO:93101/e", "ORDO:93101/specific", "Orphanet:93101" . _:126fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q60.4"; "MONDO:superClassOf", "ORDO:93101/e", "ORDO:93101/specific", "Orphanet:93101" . _:126fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q60.5"; "ORDO:93101/e", "ORDO:93101/specific", "Orphanet:93101" . _:126ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049102"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12700d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10049102"; "ORDO:93101/e", "Orphanet:93101" . _:12701d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:32659003"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.25" . _:12702d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266295"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12703d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2608080"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12704d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal hypoplasia"; "MONDO:ambiguous" . _:12705d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal hypoplasia (disease)"; rdfs:comment "preferred label from MONDO" . _:12706d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93101" . a owl:Class; rdfs:subClassOf ; "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN, see this term). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis (see these terms)), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA (see these terms)."@en; "orphanet"@en; "ICD-10:N05.7"; rdfs:label "Pauci-immune glomerulonephritis"@en; "ORPHA:93126" . _:12707d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N05.7"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , ; "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia."; ; , , ; "HVDRR"@en, "Hereditary vitamin D-resistant rickets"@en, "VDDR II"@en, "VDRR II"@en, "Vitamin D-dependent rickets type II"@en, "Vitamin D-resistant rickets type II"@en; "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia."@en; "orphanet", "orphanet"@en; "ICD-10:E83.3", "ICD10:E83.3", "MONDO:0019642", "NCIT:C131077", "OMIM:277440", "OMIM:600785", "SCTID:72831007", "UMLS:C3536983"; "HVDRR", "Hereditary vitamin D-resistant rickets", "VDDR II", "VDDR2", "VDRR II", "Vitamin D dependent rickets 2", "Vitamin D receptor deficiency", "Vitamin D-dependent rickets type II", "Vitamin D-dependent rickets, type 2", "Vitamin D-resistant rickets type II", "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor", "hereditary vitamin D-resistant rickets", "hypocalcemic vitamin D-resistant rickets", "vitamin D-dependent rickets, type 2"; "Orphanet:93160"; ; rdfs:comment "Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A"; rdfs:label "Hypocalcemic vitamin D-resistant rickets", "Hypocalcemic vitamin D-resistant rickets"@en; "ORPHA:93160" . _:12708d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia."; "Orphanet:93160" . _:12709d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31594; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31594 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "Attributed"@en . _:1270ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.3"; "NTBT (narrower term maps to a broader term)"@en . _:1270bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.3"; "MONDO:relatedTo", "ORDO:93160/attributed", "ORDO:93160/ntbt", "Orphanet:93160" . _:1270cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131077"; "MONDO:equivalentTo" . _:1270dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:277440"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1270ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:600785"; "BTNT (broader term maps to a narrower term)"@en . _:1270fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:72831007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.79/8.46" . _:12710d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3536983"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12711d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HVDRR"; "Orphanet:93160" . _:12712d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VDDR II"; "Orphanet:93160" . _:12713d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VDDR2"; "NCIT:C131077" . _:12714d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VDRR II"; "Orphanet:93160" . _:12715d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D dependent rickets 2"; "NCIT:C131077" . _:12716d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D receptor deficiency"; "NCIT:C131077" . _:12717d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D-dependent rickets type II"; "Orphanet:93160" . _:12718d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D-dependent rickets, type 2"; "MONDO:cjm" . _:12719d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vitamin D-resistant rickets type II"; "Orphanet:93160" . _:1271ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor"; "NCIT:C131077" . _:1271bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary vitamin D-resistant rickets"; "Orphanet:93160" . _:1271cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalcemic vitamin D-resistant rickets"; "Orphanet:93160" . _:1271dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin D-dependent rickets, type 2"; rdfs:comment "preferred label from MONDO" . _:1271ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93160" . a owl:Class; rdfs:subClassOf , ; "Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis"@en; "ICD-10:N04.1", "ICD10:N04.1", "OMIM:603278", "OMIM:614196", "OMIM:616730", "OMIM:618176", "OMIM:618177", "OMIM:618178", "OMIM:618179"; "Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis"; rdfs:label "Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis"@en; "ORPHA:93213" . _:1271fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31617; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31617 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "Attributed"@en . _:12720d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.1"; "NTBT (narrower term maps to a broader term)"@en . _:12721d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603278"; "NTBT (narrower term maps to a broader term)"@en . _:12722d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614196"; "NTBT (narrower term maps to a broader term)"@en . _:12723d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616730"; "NTBT (narrower term maps to a broader term)"@en . _:12724d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618176"; "NTBT (narrower term maps to a broader term)"@en . _:12725d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618177"; "NTBT (narrower term maps to a broader term)"@en . _:12726d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618178"; "NTBT (narrower term maps to a broader term)"@en . _:12727d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:618179"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:N04.8", "ICD10:N04.8", "MONDO:0019654", "OMIM:614196", "UMLS:CN206527"; "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis"; "Orphanet:93217"; ; rdfs:label "Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis"@en; "ORPHA:93217" . _:12728d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31627; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31627 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "Attributed"@en . _:12729d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "NTBT (narrower term maps to a broader term)"@en . _:1272ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.8"; "ORDO:93217/attributed", "ORDO:93217/ntbt", "Orphanet:93217" . _:1272bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614196"; "NTBT (narrower term maps to a broader term)"@en . _:1272cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206527"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:1272dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis"; rdfs:comment "preferred label from MONDO" . _:1272ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93217" . a owl:Class; rdfs:subClassOf , ; , ; "ICD-10:N04.8", "ICD10:N04.8", "MONDO:0019656", "UMLS:CN206529"; "sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis"; "Orphanet:93220"; ; rdfs:label "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis"@en; "ORPHA:93220" . _:1272fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31635; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31635 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "Attributed"@en . _:12730d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:N04.8"; "NTBT (narrower term maps to a broader term)"@en . _:12731d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:N04.8"; "ORDO:93220/attributed", "ORDO:93220/ntbt", "Orphanet:93220" . _:12732d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206529"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12733d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis"; rdfs:comment "preferred label from MONDO" . _:12734d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93220" . a owl:Class; rdfs:subClassOf , ; "Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (''flipper-like''extremities), pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems."; ; , , ; "Short rib-polydactyly syndrome type 1"@en; "Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia, pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems."@en; "orphanet"@en; "DOID:0050549", "GARD:0004834", "ICD-10:Q77.2", "ICD10:Q77.2", "MONDO:0019663", "OMIM:613091", "SCTID:27330009", "UMLS:C0036069"; "Saldino-Noonan syndrome", "Short rib-polydactyly syndrome type 1", "short rib-polydactyly syndrome type 1", "short rib-polydactyly syndrome, Saldino-Noonan type", "type I short rib polydactyly syndrome"; "SRPS type 1", "polydactyly with neonatal chondrodystrophy type 1", "short rib-polydactyly syndrome Saldino-Noonan type"; "Orphanet:93270"; ; rdfs:label "Short rib-polydactyly syndrome, Saldino-Noonan type", "Short rib-polydactyly syndrome, Saldino-Noonan type"@en; "ORPHA:93270" . _:12735d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (''flipper-like''extremities), pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems."; "Orphanet:93270" . _:12736d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050549"; "MONDO:equivalentTo" . _:12737d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004834"; "MONDO:equivalentTo", "Orphanet-shared" . _:12738d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31645; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31645 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.2"; "Attributed"@en . _:12739d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q77.2"; "NTBT (narrower term maps to a broader term)"@en . _:1273ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q77.2"; "ORDO:93270/attributed", "ORDO:93270/ntbt", "Orphanet:93270" . _:1273bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613091"; "NTBT (narrower term maps to a broader term)"@en . _:1273cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:27330009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.42/0.22" . _:1273dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0036069"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1273ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Saldino-Noonan syndrome"; "MONDO:0000353" . _:1273fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short rib-polydactyly syndrome type 1"; "Orphanet:93270" . _:12740d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short rib-polydactyly syndrome, Saldino-Noonan type"; rdfs:comment "preferred label from MONDO" . _:12741d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "type I short rib polydactyly syndrome"; "DOID:0050549" . _:12742d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRPS type 1"; "GARD:0004834" . _:12743d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polydactyly with neonatal chondrodystrophy type 1"; "GARD:0004834" . _:12744d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short rib-polydactyly syndrome Saldino-Noonan type"; "GARD:0004834" . _:12745d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93270" . a owl:Class; rdfs:subClassOf , ; "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius."; , ; "Congenital longitudinal deficiency of the radius"@en, "Radial clubhand"@en, "Radial longitidinal meromelia"@en, "Radial ray agenesis"@en; "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius."@en; "orphanet", "orphanet"@en; "GARD:0000225", "ICD-10:Q71.4", "ICD10:Q71.4", "ICD9:755.59", "MONDO:0019671", "SCTID:48008009"; "Congenital longitudinal deficiency of the radius", "Radial clubhand", "Radial longitidinal meromelia", "Radial ray agenesis", "congenital longitudinal deficiency of the radius", "radial clubhand", "radial hemimelia", "radial longitidinal meromelia", "radial ray agenesis"; "Orphanet:93321"; ; rdfs:label "Radial hemimelia", "Radial hemimelia"@en; "ORPHA:93321" . _:12746d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius."; "Orphanet:93321" . _:12747d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000225"; "MONDO:equivalentTo" . _:12748d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12749d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31663; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31663 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.4"; "Specific code (The term has its own code in the ICD10)"@en . _:1274ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.4"; "ORDO:93321/e", "ORDO:93321/specific", "Orphanet:93321" . _:1274bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:755.59"; "MONDO:relatedTo", "i2s" . _:1274cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:48008009"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.46/0.19" . _:1274dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital longitudinal deficiency of the radius"; "Orphanet:93321" . _:1274ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "radial clubhand"; "Orphanet:93321" . _:1274fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "radial hemimelia"; rdfs:comment "preferred label from MONDO" . _:12750d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "radial longitidinal meromelia"; "Orphanet:93321" . _:12751d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "radial ray agenesis"; "Orphanet:93321" . _:12752d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93321" . a owl:Class; rdfs:subClassOf , ; "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene."; ; , , , , , ; "FHH type 1"@en; "DOID:0060700", "GARD:0002796", "ICD-10:E83.5", "ICD10:E83.5", "MESH:C537145", "MONDO:0007791", "MSH:C537145", "MeSH:C537145", "MedDRA:10068704", "OMIM:145980", "SCTID:704166007", "UMLS:C0342637", "UMLS:C1809471"; "CASR familial hypocalciuric hypercalcemia", "FHH type 1", "HHC1", "familial benign hypercalcemia 1", "familial hypocalciuric hypercalcemia 1", "familial hypocalciuric hypercalcemia caused by mutation in CASR", "familial hypocalciuric hypercalcemia type 1", "familial hypocalciuric hypercalcemia type I", "hypocalciuric hypercalcemia type I"; "FBH1", "Fhh1", "familial benign hypercalcemia type 1", "hypercalcemia, familial benign", "hypercalcemia, familial benign type 1", "hypocalciuric hypercalcemia, acquired", "hypocalciuric hypercalcemia, familial, type 1", "hypocalciuric hypercalcemia, familial, type I", "hypocalciuric hypercalcemia, familial, type I; HHC1"; "Orphanet:93372"; ; rdfs:label "Familial hypocalciuric hypercalcemia type 1", "Familial hypocalciuric hypercalcemia type 1"@en; "ORPHA:93372" . _:12753d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene."; "MONDO:patterns/disease_series_by_gene" . _:12754d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060700"; "MONDO:equivalentTo" . _:12755d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002796"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12756d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31677; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31677 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "Attributed"@en . _:12757d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.5"; "NTBT (narrower term maps to a broader term)"@en . _:12758d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E83.5"; "DOID:0060700", "ORDO:93372/attributed", "ORDO:93372/ntbt", "Orphanet:93372" . _:12759d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537145"; "MONDO:equivalentTo", "ORDO:93372/e", "Orphanet:93372" . _:1275ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537145"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1275bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068704"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1275cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068704"; "ORDO:93372/e", "Orphanet:93372" . _:1275dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145980"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1275ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145980"; "DOID:0060700", "MONDO:equivalentTo", "ORDO:93372/e", "Orphanet:93372" . _:1275fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:704166007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.66/0.30/0.12" . _:12760d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342637"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12761d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1809471"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12762d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CASR familial hypocalciuric hypercalcemia"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:12763d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHH type 1"; "DOID:0060700", "Orphanet:93372" . _:12764d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHC1"; "DOID:0060700", "MONDO:Lexical", "OMIM:145980" . _:12765d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial benign hypercalcemia 1"; "DOID:0060700", "OMIM:145980" . _:12766d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia 1"; rdfs:comment "preferred label from MONDO" . _:12767d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia caused by mutation in CASR"; "MONDO:design_pattern" . _:12768d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia type 1"; "DOID:0060700", "MONDORULE:1" . _:12769d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypocalciuric hypercalcemia type I"; "DOID:0060700" . _:1276ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia type I"; "DOID:0060700" . _:1276bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBH1"; "GARD:0002796" . _:1276cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fhh1"; "OMIM:145980" . _:1276dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial benign hypercalcemia type 1"; "GARD:0002796" . _:1276ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, familial benign"; "OMIM:145980" . _:1276fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, familial benign type 1"; "GARD:0002796" . _:12770d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, acquired"; "OMIM:145980" . _:12771d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type 1"; "GARD:0002796", "OMIM:145980" . _:12772d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type I"; "MONDO:Lexical", "OMIM:145980" . _:12773d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypocalciuric hypercalcemia, familial, type I; HHC1"; "OMIM:145980" . _:12774d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93372" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare bone disease"@en; "ORPHA:93419" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019685"; "FGFR3-related chondrodysplasia"; "Orphanet:93420"; ; rdfs:label "FGFR3-related chondrodysplasia" . _:12775d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FGFR3-related chondrodysplasia"; rdfs:comment "preferred label from MONDO" . _:12776d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93420" . a owl:Class; rdfs:subClassOf ; , , ; "ICD10:Q77.2", "ICD9:756.3", "MONDO:0019691", "OMIM:616546", "OMIM:617866", "OMIM:617895", "OMIM:617925", "SCTID:254050009", "UMLS:C0432195"; "SRP", "Short-rib dysplasia (with or without polydactyly)", "short rib dysplasia", "short-rib dysplasia (with or without polydactyly)"; "ciliopathies with major skeletal involvement"; "Orphanet:93426"; ; rdfs:label "Short rib dysplasia" . _:12777d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q77.2"; "ORDO:93426/e", "ORDO:93426/specific", "Orphanet:93426" . _:12778d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.3"; "MONDO:relatedTo", "i2s" . _:12779d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616546"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1277ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254050009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:1277bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRP"; "Orphanet:93426" . _:1277cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short rib dysplasia"; rdfs:comment "preferred label from MONDO" . _:1277dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "short-rib dysplasia (with or without polydactyly)"; "Orphanet:93426" . _:1277ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ciliopathies with major skeletal involvement"; "Orphanet:93426" . _:1277fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93426" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q78.5", "MONDO:0019693"; "multiple metaphyseal dysplasia"; "Orphanet:93430"; ; rdfs:label "Multiple metaphyseal dysplasia" . _:12780d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q78.5"; "ORDO:93430/attributed", "ORDO:93430/ntbt", "Orphanet:93430" . _:12781d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple metaphyseal dysplasia"; rdfs:comment "preferred label from MONDO" . _:12782d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93430" . a owl:Class; rdfs:subClassOf ; ; "ICD-10:Q74.8", "ICD10:Q74.8", "MONDO:0019695"; "acromelic dysplasia"; "Orphanet:93436"; ; rdfs:label "Acromelic dysplasia", "Acromelic dysplasia"@en; "ORPHA:93436" . _:12783d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31723; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31723 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q74.8"; "Attributed"@en . _:12784d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q74.8"; "NTBT (narrower term maps to a broader term)"@en . _:12785d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q74.8"; "ORDO:93436/attributed", "ORDO:93436/ntbt", "Orphanet:93436" . _:12786d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acromelic dysplasia"; rdfs:comment "preferred label from MONDO" . _:12787d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93436" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019699"; "slender bone dysplasia"; "Orphanet:93440"; ; rdfs:label "Slender bone dysplasia" . _:12788d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "slender bone dysplasia"; rdfs:comment "preferred label from MONDO" . _:12789d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93440" . a owl:Class; rdfs:subClassOf ; , ; "Primary osteodysplasia with increased bone density"@en, "Primary skeletal dysplasia with increased bone density"@en, "Sclerosing bone dysplasia"@en; "MONDO:0019703", "UMLS:CN043667"; "Primary osteodysplasia with increased bone density", "Primary skeletal dysplasia with increased bone density", "primary bone dysplasia with increased bone density", "primary osteodysplasia with increased bone density", "primary skeletal dysplasia with increased bone density", "sclerosing bone dysplasia"; "Orphanet:93444"; ; rdfs:label "Primary bone dysplasia with increased bone density", "Primary bone dysplasia with increased bone density"@en; "ORPHA:93444" . _:1278ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN043667"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:1278bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary bone dysplasia with increased bone density"; rdfs:comment "preferred label from MONDO" . _:1278cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary osteodysplasia with increased bone density"; "Orphanet:93444" . _:1278dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary skeletal dysplasia with increased bone density"; "Orphanet:93444" . _:1278ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sclerosing bone dysplasia"; "Orphanet:93444" . _:1278fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93444" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019704"; "Primary osteodysplasia with decreased bone density", "Primary skeletal dysplasia with decreased bone density", "primary bone dysplasia with decreased bone density", "primary osteodysplasia with decreased bone density", "primary skeletal dysplasia with decreased bone density"; "Orphanet:93446"; ; rdfs:label "Primary bone dysplasia with decreased bone density" . _:12790d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary bone dysplasia with decreased bone density"; rdfs:comment "preferred label from MONDO" . _:12791d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary osteodysplasia with decreased bone density"; "Orphanet:93446" . _:12792d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary skeletal dysplasia with decreased bone density"; "Orphanet:93446" . _:12793d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93446" . a owl:Class; rdfs:subClassOf ; ; "Primary osteodysplasia with defective bone mineralization"@en, "Primary skeletal dysplasia with defective bone mineralization"@en; "MONDO:0019705"; "Primary osteodysplasia with defective bone mineralization", "Primary skeletal dysplasia with defective bone mineralization", "primary bone dysplasia with defective bone mineralization", "primary osteodysplasia with defective bone mineralization", "primary skeletal dysplasia with defective bone mineralization"; "Orphanet:93447"; ; rdfs:label "Primary bone dysplasia with defective bone mineralization", "Primary bone dysplasia with defective bone mineralization"@en; "ORPHA:93447" . _:12794d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary bone dysplasia with defective bone mineralization"; rdfs:comment "preferred label from MONDO" . _:12795d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary osteodysplasia with defective bone mineralization"; "Orphanet:93447" . _:12796d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary skeletal dysplasia with defective bone mineralization"; "Orphanet:93447" . _:12797d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93447" . a owl:Class; rdfs:subClassOf , ; , , ; "ICD9:756.9", "MONDO:0019706", "SCTID:254069004", "UMLS:CN206618"; "Dysostosis multiplex", "dysostosis multiplex", "lysosomal storage disease with skeletal involvement"; "Orphanet:93448"; ; rdfs:label "Lysosomal storage disease with skeletal involvement" . _:12798d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.9"; "MONDO:relatedTo", "i2s" . _:12799d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:254069004"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/13.93" . _:1279ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206618"; "MONDO:equivalentTo" . _:1279bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysostosis multiplex"; "Orphanet:93448" . _:1279cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lysosomal storage disease with skeletal involvement"; rdfs:comment "preferred label from MONDO" . _:1279dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93448" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019707"; "primary osteolysis"; "Orphanet:93449"; ; rdfs:label "Primary osteolysis" . _:1279ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary osteolysis"; rdfs:comment "preferred label from MONDO" . _:1279fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93449" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019708"; "Primary osteodysplasia with disorganized development of skeletal components", "Primary skeletal dysplasia with disorganized development of skeletal components", "primary bone dysplasia with disorganized development of skeletal components", "primary osteodysplasia with disorganized development of skeletal components", "primary skeletal dysplasia with disorganized development of skeletal components"; "Orphanet:93450"; ; rdfs:label "Primary bone dysplasia with disorganized development of skeletal components" . _:127a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary bone dysplasia with disorganized development of skeletal components"; rdfs:comment "preferred label from MONDO" . _:127a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary osteodysplasia with disorganized development of skeletal components"; "Orphanet:93450" . _:127a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary skeletal dysplasia with disorganized development of skeletal components"; "Orphanet:93450" . _:127a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93450" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019711"; "dysostosis with predominant vertebral and costal involvement"; "Orphanet:93454"; ; rdfs:label "Dysostosis with predominant vertebral and costal involvement" . _:127a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dysostosis with predominant vertebral and costal involvement"; rdfs:comment "preferred label from MONDO" . _:127a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93454" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019712"; "patellar dysostosis"; "Orphanet:93455"; ; rdfs:label "Patellar dysostosis" . _:127a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "patellar dysostosis"; rdfs:comment "preferred label from MONDO" . _:127a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93455" . a owl:Class; rdfs:subClassOf , , ; ; "Non-syndromic limb hypoplasia"@en; "ICD-10:Q71.0", "ICD-10:Q71.1", "ICD-10:Q71.2", "ICD-10:Q71.3", "ICD-10:Q71.4", "ICD-10:Q71.5", "ICD-10:Q71.6", "ICD-10:Q71.8", "ICD-10:Q71.9", "ICD-10:Q72.0", "ICD-10:Q72.1", "ICD-10:Q72.2", "ICD-10:Q72.3", "ICD-10:Q72.4", "ICD-10:Q72.5", "ICD-10:Q72.6", "ICD-10:Q72.7", "ICD-10:Q72.8", "ICD-10:Q72.9", "ICD-10:Q73.0", "ICD-10:Q73.1", "ICD-10:Q73.8", "ICD10:Q71.0", "ICD10:Q71.1", "ICD10:Q71.2", "ICD10:Q71.3", "ICD10:Q71.4", "ICD10:Q71.5", "ICD10:Q71.6", "ICD10:Q71.8", "ICD10:Q71.9", "ICD10:Q72.0", "ICD10:Q72.1", "ICD10:Q72.2", "ICD10:Q72.3", "ICD10:Q72.4", "ICD10:Q72.5", "ICD10:Q72.6", "ICD10:Q72.7", "ICD10:Q72.8", "ICD10:Q72.9", "ICD10:Q73.0", "ICD10:Q73.1", "ICD10:Q73.8", "MONDO:0019713"; "Non-syndromic limb hypoplasia", "non-syndromic limb hypoplasia", "non-syndromic limb reduction defect", "nonsyndromic limb reduction defect"; "isolated limb reduction defect"; "Orphanet:93457"; ; rdfs:label "Non-syndromic limb reduction defect", "Non-syndromic limb reduction defect"@en; "ORPHA:93457" . _:127a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.0"; "BTNT (broader term maps to a narrower term)"@en . _:127a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.0"; "Specific code (The term has its own code in the ICD10)"@en . _:127aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.1"; "BTNT (broader term maps to a narrower term)"@en . _:127abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.1"; "Specific code (The term has its own code in the ICD10)"@en . _:127acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.2"; "BTNT (broader term maps to a narrower term)"@en . _:127add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.2"; "Specific code (The term has its own code in the ICD10)"@en . _:127aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.3"; "BTNT (broader term maps to a narrower term)"@en . _:127afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.3"; "Specific code (The term has its own code in the ICD10)"@en . _:127b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.4"; "BTNT (broader term maps to a narrower term)"@en . _:127b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.4"; "Specific code (The term has its own code in the ICD10)"@en . _:127b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.5"; "BTNT (broader term maps to a narrower term)"@en . _:127b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.5"; "Specific code (The term has its own code in the ICD10)"@en . _:127b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.6"; "BTNT (broader term maps to a narrower term)"@en . _:127b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.6"; "Specific code (The term has its own code in the ICD10)"@en . _:127b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.8"; "BTNT (broader term maps to a narrower term)"@en . _:127b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.8"; "Specific code (The term has its own code in the ICD10)"@en . _:127b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.9"; "BTNT (broader term maps to a narrower term)"@en . _:127b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.9"; "Specific code (The term has its own code in the ICD10)"@en . _:127bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.0"; "BTNT (broader term maps to a narrower term)"@en . _:127bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.0"; "Specific code (The term has its own code in the ICD10)"@en . _:127bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.1"; "BTNT (broader term maps to a narrower term)"@en . _:127bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.1"; "Specific code (The term has its own code in the ICD10)"@en . _:127bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.2"; "BTNT (broader term maps to a narrower term)"@en . _:127bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.2"; "Specific code (The term has its own code in the ICD10)"@en . _:127c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.3"; "BTNT (broader term maps to a narrower term)"@en . _:127c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.3"; "Specific code (The term has its own code in the ICD10)"@en . _:127c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.4"; "BTNT (broader term maps to a narrower term)"@en . _:127c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.4"; "Specific code (The term has its own code in the ICD10)"@en . _:127c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.5"; "BTNT (broader term maps to a narrower term)"@en . _:127c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.5"; "Specific code (The term has its own code in the ICD10)"@en . _:127c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.6"; "BTNT (broader term maps to a narrower term)"@en . _:127c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.6"; "Specific code (The term has its own code in the ICD10)"@en . _:127c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.7"; "BTNT (broader term maps to a narrower term)"@en . _:127c9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31794; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31794 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.7"; "Specific code (The term has its own code in the ICD10)"@en . _:127cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.8"; "BTNT (broader term maps to a narrower term)"@en . _:127cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.8"; "Specific code (The term has its own code in the ICD10)"@en . _:127ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.9"; "BTNT (broader term maps to a narrower term)"@en . _:127cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q72.9"; "Specific code (The term has its own code in the ICD10)"@en . _:127ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.0"; "BTNT (broader term maps to a narrower term)"@en . _:127cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.0"; "Specific code (The term has its own code in the ICD10)"@en . _:127d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.1"; "BTNT (broader term maps to a narrower term)"@en . _:127d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.1"; "Specific code (The term has its own code in the ICD10)"@en . _:127d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.8"; "BTNT (broader term maps to a narrower term)"@en . _:127d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q73.8"; "Specific code (The term has its own code in the ICD10)"@en . _:127d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.0"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.1"; "MONDO:superClassOf", "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.2"; "MONDO:superClassOf", "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.3"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.4"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.5"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.6"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.8"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.9"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.0"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.1"; "MONDO:superClassOf", "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.2"; "MONDO:superClassOf", "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.3"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.4"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.5"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.6"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.7"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.8"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q72.9"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q73.0"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q73.1"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q73.8"; "ORDO:93457/btnt", "ORDO:93457/specific", "Orphanet:93457" . _:127ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic limb hypoplasia"; "Orphanet:93457" . _:127ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic limb reduction defect"; rdfs:comment "preferred label from MONDO" . _:127ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic limb reduction defect"; "MONDO:DesignPattern" . _:127edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated limb reduction defect"; "MONDO:DesignPattern" . _:127eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93457" . a owl:Class; rdfs:subClassOf , , ; ; "MONDO:0019714"; "non-syndromic polydactyly, syndactyly and/or hyperphalangy", "nonsyndromic polydactyly, syndactyly and/or hyperphalangy"; "isolated polydactyly, syndactyly and/or hyperphalangy"; "Orphanet:93458"; ; rdfs:label "Non-syndromic polydactyly, syndactyly and/or hyperphalangy", "Non-syndromic polydactyly, syndactyly and/or hyperphalangy"@en; "ORPHA:93458" . _:127efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-syndromic polydactyly, syndactyly and/or hyperphalangy"; rdfs:comment "preferred label from MONDO" . _:127f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonsyndromic polydactyly, syndactyly and/or hyperphalangy"; "MONDO:DesignPattern" . _:127f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "isolated polydactyly, syndactyly and/or hyperphalangy"; "MONDO:DesignPattern" . _:127f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93458" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0019715", "UMLS:CN206620"; "syndrome with synostosis or other joint formation defect"; "Orphanet:93459"; ; rdfs:label "Syndrome with synostosis or other joint formation defect" . _:127f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206620"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:127f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with synostosis or other joint formation defect"; rdfs:comment "preferred label from MONDO" . _:127f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93459" . a owl:Class; rdfs:subClassOf , ; "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."; , , , ; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0019716", "NCIT:C94828", "UMLS:C2986703", "UMLS:CN206621"; "overgrowth syndrome"; "Orphanet:93460"; ; rdfs:label "Overgrowth syndrome", "Overgrowth syndrome"@en; "ORPHA:93460" . _:127f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."; "NCIT:C94828" . _:127f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:127f8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31842; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Specific code (The term has its own code in the ICD10)"@en . _:127f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:93460/e", "ORDO:93460/specific", "Orphanet:93460" . _:127fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C94828"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:127fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2986703"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCIT:C94828" . _:127fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206621"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:127fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "overgrowth syndrome"; rdfs:comment "preferred label from MONDO" . _:127fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93460" . a owl:Class; rdfs:subClassOf ; rdfs:label "Chromosomal disease with overgrowth"@en; "ORPHA:93461" . a owl:Class; rdfs:subClassOf , ; "A renal or urinary tract malformation that is part of a larger syndrome."; , ; "MONDO:0019721", "UMLS:CN227683"; "syndrome associated with congenital anomaly of kidney and urinary tract", "syndromic congenital anomaly of kidney and urinary tract", "syndromic renal or urinary tract malformation"; "syndrome associated with congenital anomaly of kidney and urinary tract"; "Orphanet:93547"; ; rdfs:label "Syndromic renal or urinary tract malformation" . _:127ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A renal or urinary tract malformation that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12800d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227683"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12801d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with congenital anomaly of kidney and urinary tract"; "MONDO:patterns/syndromic" . _:12802d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic congenital anomaly of kidney and urinary tract"; "MONDO:patterns/syndromic" . _:12803d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic renal or urinary tract malformation"; "MONDO:patterns/syndromic" . _:12804d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic renal or urinary tract malformation"; rdfs:comment "preferred label from MONDO" . _:12805d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with congenital anomaly of kidney and urinary tract"; "MONDO:patterns/syndromic" . _:12806d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93547" . a owl:Class; rdfs:subClassOf ; , ; "basement membrane disease"; "MONDO:0019723", "UMLS:CN206630"; "disease of glomerular basement membrane"; "Orphanet:93550"; ; rdfs:label "Basement membrane disease" . _:12807d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "basement membrane disease"; "Orphanet:93550" . _:12808d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206630"; "MONDO:equivalentTo" . _:12809d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of glomerular basement membrane"; rdfs:comment "preferred label from MONDO" . _:1280ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93550" . a owl:Class; rdfs:subClassOf ; "SLE, pediatric onset"@en; "A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system)."@en; "orphanet"@en; "ICD-10:M32.0", "ICD-10:M32.1", "ICD-10:M32.8", "ICD-10:M32.9"; rdfs:label "Pediatric systemic lupus erythematosus"@en; "ORPHA:93552" . _:1280bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M32.0"; "NTBT (narrower term maps to a broader term)"@en . _:1280cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M32.1"; "NTBT (narrower term maps to a broader term)"@en . _:1280dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M32.8"; "NTBT (narrower term maps to a broader term)"@en . _:1280ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M32.9"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "Juvenile PM"@en; "#64258;ammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy."@en; "orphanet"@en; "ICD-10:M33.2"; rdfs:label "Juvenile polymyositis"@en; "ORPHA:93568" . _:1280fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M33.2"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; "MeSH:D057049", "MedDRA:10043645", "UMLS:C2717961"; rdfs:label "Thrombotic microangiopathy"@en; "ORPHA:93573" . _:12810d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D057049"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12811d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043645"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12812d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2717961"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Congenital ADAMTS-13 deficiency"@en, "Congenital TTP"@en, "Familial TTP"@en, "Upshaw-Schulman syndrome"@en; "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity."@en; "orphanet"@en; "ICD-10:M31.1", "ICD10:M31.3", "OMIM:274150", "UMLS:C1268935"; "Upshaw-Schulman syndrome"; rdfs:label "Congenital thrombotic thrombocytopenic purpura"@en, "Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency"; "ORPHA:93583" . _:12813d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31870; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31870 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.1"; "Attributed"@en . _:12814d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M31.1"; "NTBT (narrower term maps to a broader term)"@en . _:12815d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:274150"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12816d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1268935"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome."; , ; "MONDO:0019741", "UMLS:CN206655"; "familial cystic renal disease", "hereditary cystic kidney disease"; "Orphanet:93587"; ; rdfs:label "Familial cystic renal disease" . _:12817d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:12818d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206655"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12819d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial cystic renal disease"; rdfs:comment "preferred label from MONDO" . _:1281ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary cystic kidney disease"; "MONDO:patterns/hereditary" . _:1281bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93587" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0019743", "UMLS:CN206659"; "nephropathy secondary to a storage or other metabolic disease"; "Orphanet:93593"; ; rdfs:label "Nephropathy secondary to a storage or other metabolic disease", "Nephropathy secondary to a storage or other metabolic disease"@en; "ORPHA:93593" . _:1281cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206659"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:1281dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephropathy secondary to a storage or other metabolic disease"; rdfs:comment "preferred label from MONDO" . _:1281ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93593" . a owl:Class; rdfs:subClassOf ; "UMLS:C0151747"; rdfs:label "Rare renal tubular disease"@en; "ORPHA:93603" . _:1281fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0151747"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0019747", "UMLS:CN227684"; "hematological disorder with renal involvement"; "Orphanet:93614"; ; rdfs:label "Hematological disorder with renal involvement" . _:12820d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227684"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12821d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hematological disorder with renal involvement"; rdfs:comment "preferred label from MONDO" . _:12822d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93614" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare renal disease"@en; "ORPHA:93626" . a owl:Class; rdfs:subClassOf ; "MedDRA:10072220", "UMLS:C3267073"; rdfs:label "Autoinflammatory syndrome"@en; "ORPHA:93665" . _:12823d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10072220"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12824d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3267073"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Juvenile DM"@en; "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM, see this term), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations."@en; "orphanet"@en; "ICD-10:M33.0", "MeSH:C538250", "MedDRA:10008521", "UMLS:C0263666", "UMLS:C2931785"; rdfs:label "Juvenile dermatomyositis"@en; "ORPHA:93672" . _:12825d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M33.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12826d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C538250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12827d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10008521"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12828d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0263666"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12829d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931785"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Malformation syndrome"@en; rdfs:label "Rare developmental defect during embryogenesis"@en; "ORPHA:93890" . a owl:Class; rdfs:subClassOf , , , , , , , ; "Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium."; , ; , , , , , ; "NF3"@en, "Neurilemmomatosis"@en, "Schwannomatosis"@en; "Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium."@en; "orphanet"@en; "DOID:3204", "GARD:0004768", "ICD-10:Q85.0", "ICD10:Q85.0", "ICD10:Q85.03", "ICD9:237.73", "ICDO:9560/1", "MONDO:0008075", "MSH:C536641", "MeSH:C536641", "NCIT:C6557", "OMIM:162091", "OMIM:162260", "OMIM:615670", "OMIMPS:162091", "UMLS:C0917817", "UMLS:C1335929", "UMLS:C2931480"; "NF3", "Neurilemmomatosis", "Neurinomatosis", "Schwannomatosis", "neurilemmomatosis", "neurofibromatosis type 3", "schwannomatosis"; "congenital cutaneous neurilemmomatosis", "neurilemmomatosis congenital cutaneous", "neurilemmomatosis, congenital cutaneous", "neurinoma"; "Orphanet:93921"; ; rdfs:label "Neurofibromatosis type 3", "Neurofibromatosis type 3"@en; "ORPHA:93921" . _:1282ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium."; "Orphanet:93921" . _:1282bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3204"; "MONDO:equivalentTo" . _:1282cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004768"; "MONDO:equivalentTo", "Orphanet-shared" . _:1282dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31897; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31897 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.0"; "Attributed"@en . _:1282ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q85.0"; "NTBT (narrower term maps to a broader term)"@en . _:1282fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.0"; "ORDO:93921/attributed", "ORDO:93921/ntbt", "Orphanet:93921" . _:12830d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q85.03"; "DOID:3204" . _:12831d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:237.73"; "DOID:3204" . _:12832d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICDO:9560/1"; "NCIT:C6557" . _:12833d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536641"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12834d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C6557"; "DOID:3204", "MONDO:equivalentTo" . _:12835d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162091"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12836d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:162260"; "BTNT (broader term maps to a narrower term)"@en . _:12837d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615670"; "BTNT (broader term maps to a narrower term)"@en . _:12838d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:162091"; "MONDO:equivalentTo" . _:12839d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0917817"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1283ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1335929"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1283bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1335929"; "DOID:3204", "MONDO:equivalentTo", "NCIT:C6557", "OMIM:162091", "ORDO:93921/e", "Orphanet:93921" . _:1283cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2931480"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1283dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NF3"; "Orphanet:93921" . _:1283ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Neurinomatosis"; "NCIT:C6557" . _:1283fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Schwannomatosis"; "Orphanet:93921" . _:12840d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurilemmomatosis"; "DOID:3204", "Orphanet:93921", "https://en.wikipedia.org/wiki/Schwannomatosis"; . _:12841d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurofibromatosis type 3"; rdfs:comment "preferred label from MONDO" . _:12842d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "schwannomatosis"; "MONDO:0002557" . _:12843d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital cutaneous neurilemmomatosis"; "GARD:0004768" . _:12844d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurilemmomatosis congenital cutaneous"; "GARD:0004768" . _:12845d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurilemmomatosis, congenital cutaneous"; "OMIM:162091" . _:12846d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurinoma"; "https://en.wikipedia.org/wiki/Schwannomatosis"; . _:12847d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93921" . a owl:Class; rdfs:subClassOf , , , , , , ; "Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations."; ; , , , , , , , ; "OEIS complex"@en, "Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"@en; "Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations."@en; "orphanet", "orphanet"@en; "DOID:0080175", "GARD:0004080", "HP:0010475", "ICD-10:Q64.1", "ICD10:Q64.1", "ICD9:759.89", "MESH:C537748", "MONDO:0009774", "MedDRA:10067424", "NCIT:C99142", "OMIM:258040", "SCTID:20815007", "UMLS:C0345217", "UMLS:C1850321"; "OEIS complex", "OEIS syndrome", "Omphalocele - cloacal exstrophy - imperforate anus - spinal defect", "cloacal exstrophy", "cloacal exstrophy (disease)", "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"; "cloacal exstrophy sequence", "omphalocele - cloacal exstrophy - imperforate anus - spinal defect", "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects", "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex", "omphalocele-exstrophy-imperforate anus-spinal defects"; "Orphanet:93929"; ; rdfs:label "Cloacal exstrophy", "Cloacal exstrophy"@en; "ORPHA:93929" . _:12848d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations."; "Orphanet:93929" . _:12849d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080175"; "MONDO:equivalentTo" . _:1284ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004080"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:1284bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0010475"; "MONDO:otherHierarchy", "ontobio" . _:1284cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31929; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31929 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q64.1"; "Attributed"@en . _:1284dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q64.1"; "NTBT (narrower term maps to a broader term)"@en . _:1284ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q64.1"; "ORDO:93929/attributed", "ORDO:93929/ntbt", "Orphanet:93929" . _:1284fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:759.89"; "MONDO:relatedTo", "i2s" . _:12850d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537748"; "MONDO:equivalentTo", "MONDO:ontobio" . _:12851d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067424"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12852d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10067424"; "ORDO:93929/e", "Orphanet:93929" . _:12853d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99142"; "MONDO:equivalentTo" . _:12854d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:258040"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12855d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:258040"; "MONDO:equivalentTo", "ORDO:93929/e", "Orphanet:93929" . _:12856d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:20815007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.75/6.48" . _:12857d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0345217"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12858d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850321"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12859d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850321"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C99142", "OMIM:258040", "Orphanet:93929" . _:1285ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OEIS complex"; "OMIM:258040", "Orphanet:93929" . _:1285bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OEIS syndrome"; "NCIT:C99142" . _:1285cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cloacal exstrophy"; "MONDO:ambiguous" . _:1285dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cloacal exstrophy (disease)"; rdfs:comment "preferred label from MONDO" . _:1285ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"; "Orphanet:93929" . _:1285fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cloacal exstrophy sequence"; "GARD:0004080" . _:12860d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "omphalocele - cloacal exstrophy - imperforate anus - spinal defect"; "GARD:0004080" . _:12861d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects"; "GARD:0004080" . _:12862d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex"; "GARD:0004080" . _:12863d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "omphalocele-exstrophy-imperforate anus-spinal defects"; "OMIM:258040" . _:12864d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:93929" . a owl:Class; rdfs:subClassOf ; "Astrocytic tumor"@en; "Astrocytomas represent a complex group of benign and malignant cerebral tumors arising at any age."@en; "orphanet"@en; "MeSH:D001254", "MedDRA:10003571", "OMIM:137800", "UMLS:C0004114"; rdfs:label "Astrocytoma"@en; "ORPHA:94" . _:12865d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D001254"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12866d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10003571"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12867d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:137800"; "NTBT (narrower term maps to a broader term)"@en . _:12868d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0004114"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Non-secreting paraganglioma"@en; "Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed."@en; "orphanet"@en; rdfs:label "Non-functioning paraganglioma"@en; "ORPHA:94080" . a owl:Class; rdfs:subClassOf , ; "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria."; , , , , ; "Drummond syndrome"@en, "Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"@en; "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria."@en; "orphanet"@en; "GARD:0005939", "ICD-10:E70.8", "ICD10:E70.8", "ICD10:E72.0", "MESH:C536239", "MONDO:0008877", "MSH:C536239", "MeSH:C536239", "OMIM:211000", "SCTID:59531002", "UMLS:C0268478"; "Drummond syndrome", "Familial hypercalcemia - nephrocalcinosis - indicanuria", "blue diaper syndrome", "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"; "hypercalcemia, familial, with nephrocalcinosis and indicanuria"; "Orphanet:94086"; , ; rdfs:label "Blue diaper syndrome", "Blue diaper syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome"^^xsd:anyURI; "ORPHA:94086" . _:12869d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria."; "Orphanet:94086" . _:1286ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005939"; "MONDO:equivalentTo" . _:1286bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31961; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31961 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.8"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:1286cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E70.8"; "NTBT (narrower term maps to a broader term)"@en . _:1286dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.8"; "ORDO:94086/inclusion", "ORDO:94086/ntbt", "Orphanet:94086" . _:1286ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536239"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:94086/e", "Orphanet:94086" . _:1286fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536239"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12870d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:211000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12871d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:211000"; "MONDO:equivalentTo", "ORDO:94086/e", "Orphanet:94086" . _:12872d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:59531002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/4.98" . _:12873d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268478"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12874d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268478"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:211000", "ORDO:94086/e", "Orphanet:94086" . _:12875d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Drummond syndrome"; "Orphanet:94086" . _:12876d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blue diaper syndrome"; "OMIM:211000" . _:12877d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blue diaper syndrome"; rdfs:comment "preferred label from MONDO" . _:12878d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"; "Orphanet:94086" . _:12879d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypercalcemia, familial, with nephrocalcinosis and indicanuria"; "OMIM:211000" . _:1287ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005939" . _:1287bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:94086" . _:1287cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome"^^xsd:anyURI; "GARD:0005939" . a owl:Class; rdfs:subClassOf , ; "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance."; ; , , , , ; "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance."@en; "orphanet", "orphanet"@en; "DOID:0080222", "GARD:0010680", "ICD-10:E20.1", "ICD10:E20.1", "MESH:C548075", "MONDO:0011301", "MSH:C548075", "MeSH:C548075", "OMIM:603233", "UMLS:C1864100", "UMLS:C2932715"; "pseudohypoparathyroidism type 1B"; "PHP1B", "Php 1B", "pseudohypoparathyroidism type IB", "pseudohypoparathyroidism, type 1B", "pseudohypoparathyroidism, type IB", "pseudohypoparathyroidism, type IB; PHP1B"; "Orphanet:94089"; , ; rdfs:label "Pseudohypoparathyroidism type 1B", "Pseudohypoparathyroidism type 1B"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b"^^xsd:anyURI; "ORPHA:94089" . _:1287dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance."; "Orphanet:94089" . _:1287ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080222"; "MONDO:equivalentTo" . _:1287fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010680"; "MONDO:equivalentTo" . _:12880d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid31983; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid31983 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "Attributed"@en . _:12881d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "NTBT (narrower term maps to a broader term)"@en . _:12882d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.1"; "MONDO:subClassOf", "ORDO:94089/attributed", "ORDO:94089/ntbt", "Orphanet:94089" . _:12883d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C548075"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:94089/e", "Orphanet:94089" . _:12884d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C548075"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12885d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603233"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12886d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603233"; "DOID:0080222", "MONDO:equivalentTo", "ORDO:94089/e", "Orphanet:94089" . _:12887d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1864100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12888d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2932715"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12889d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2932715"; "MONDO:equivalentTo", "ORDO:94089/e", "Orphanet:94089" . _:1288ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism type 1B"; rdfs:comment "preferred label from MONDO" . _:1288bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHP1B"; "MONDO:Lexical", "OMIM:603233" . _:1288cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Php 1B"; "OMIM:603233" . _:1288dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism type IB"; "DOID:0080222" . _:1288ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type 1B"; "OMIM:603233" . _:1288fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type IB"; "MONDO:Lexical", "OMIM:603233" . _:12890d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type IB; PHP1B"; "OMIM:603233" . _:12891d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010680" . _:12892d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:94089" . _:12893d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b"^^xsd:anyURI; "GARD:0010680" . a owl:Class; rdfs:subClassOf , ; "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response."; , , , , , , ; "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response."@en; "orphanet", "orphanet"@en; "GARD:0010682", "ICD-10:E20.1", "ICD10:E20.1", "ICD9:275.49", "MESH:C548077", "MONDO:0008749", "MSH:C548077", "MeSH:C548077", "OMIM:203330", "SCTID:42183005", "UMLS:C0271870", "UMLS:C2932717", "UMLS:CN206737"; "pseudohypoparathyroidism type 2"; "PHP II", "PHP2", "Php 2", "pseudohypoparathyroidism, type II", "pseudohypoparathyroidism, type II; PHP2"; "Orphanet:94090"; , ; rdfs:label "Pseudohypoparathyroidism type 2", "Pseudohypoparathyroidism type 2"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2"^^xsd:anyURI; "ORPHA:94090" . _:12894d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response."; "Orphanet:94090" . _:12895d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010682"; "MONDO:equivalentTo" . _:12896d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32006; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32006 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "Attributed"@en . _:12897d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "NTBT (narrower term maps to a broader term)"@en . _:12898d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.1"; "MONDO:subClassOf", "ORDO:94090/attributed", "ORDO:94090/ntbt", "Orphanet:94090" . _:12899d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.49"; "MONDO:relatedTo", "i2s" . _:1289ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C548077"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:94090/e", "Orphanet:94090" . _:1289bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C548077"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1289cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:203330"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1289dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:203330"; "MONDO:equivalentTo", "ORDO:94090/e", "Orphanet:94090" . _:1289ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42183005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.57" . _:1289fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0271870"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:128a0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2932717"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:128a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2932717"; "MONDO:equivalentTo", "OMIM:203330", "ORDO:94090/e", "Orphanet:94090" . _:128a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206737"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:128a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism type 2"; rdfs:comment "preferred label from MONDO" . _:128a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHP II"; "GARD:0010682" . _:128a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHP2"; "MONDO:Lexical", "OMIM:203330" . _:128a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Php 2"; "OMIM:203330" . _:128a7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type II"; "MONDO:Lexical", "OMIM:203330" . _:128a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism, type II; PHP2"; "OMIM:203330" . _:128a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010682" . _:128aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:94090" . _:128abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2"^^xsd:anyURI; "GARD:0010682" . a owl:Class; rdfs:subClassOf ; "Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.", "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."; , ; "ADCA1"@en, "ADCAI"@en, "Autosomal dominant cerebellar ataxia type 1"@en, "Cerebellar plus syndrome"@en; "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."@en; "orphanet", "orphanet"@en; "ICD-10:G11.8", "ICD10:G11.8", "MONDO:0019792", "OMIM:617769", "OMIM:617770", "UMLS:CN206744"; "ADCA1", "ADCAI", "Autosomal dominant cerebellar ataxia type I", "Cerebellar plus syndrome", "autosomal dominant cerebellar ataxia type 1", "autosomal dominant cerebellar ataxia type I", "cerebellar plus syndrome"; "Orphanet:94145"; ; rdfs:label "Autosomal dominant cerebellar ataxia type 1", "Autosomal dominant cerebellar ataxia type I"@en; "ORPHA:94145" . _:128acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."; "Orphanet:94145" . _:128add a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32030; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32030 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.8"; "Attributed"@en . _:128aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.8"; "NTBT (narrower term maps to a broader term)"@en . _:128afd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11.8"; "ORDO:94145/attributed", "ORDO:94145/ntbt", "Orphanet:94145" . _:128b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206744"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:128b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCA1"; "Orphanet:94145" . _:128b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCAI"; "Orphanet:94145" . _:128b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type 1"; "Orphanet:94145" . _:128b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type I"; rdfs:comment "preferred label from MONDO" . _:128b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar plus syndrome"; "Orphanet:94145" . _:128b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:94145" . a owl:Class; rdfs:subClassOf , ; "Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness."; , , , , , ; "Ataxia with pigmentary retinopathy"@en, "Cerebellar syndrome-pigmentary maculopathy syndrome"@en, "SCA7"@en; "Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness."@en; "orphanet", "orphanet"@en; "DOID:0050958", "GARD:0004955", "ICD-10:G11.8", "ICD10:G11.8", "MONDO:0008120", "NCIT:C126562", "OMIM:164500", "SCTID:715726000", "UMLS:C0752125"; "ATXN7 autosomal dominant cerebellar ataxia type II", "Ataxia with pigmentary retinopathy", "Cerebellar syndrome - pigmentary maculopathy", "SCA7", "ataxia with pigmentary retinopathy", "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7", "cerebellar syndrome-pigmentary maculopathy syndrome", "spinocerebellar ataxia type 7"; "ADCA, type II", "Adca, type 2", "OPCA 3", "OPCA III", "OPCA with macular Degeneration and external ophthalmoplegia", "OPCA with retinal Degeneration", "OPCA3", "autosomal dominant cerebellar ataxia, type 2", "olivopontocerebellar atrophy 3", "spinocerebellar ataxia 7", "spinocerebellar ataxia 7; SCA7"; "Orphanet:94147"; ; rdfs:label "Spinocerebellar ataxia type 7", "Spinocerebellar ataxia type 7"@en; "ORPHA:94147" . _:128b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness."; "Orphanet:94147" . _:128b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050958"; "MONDO:equivalentTo" . _:128b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004955"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:128bad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32044; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32044 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.8"; "Attributed"@en . _:128bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.8"; "NTBT (narrower term maps to a broader term)"@en . _:128bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11.8"; "ORDO:94147/attributed", "ORDO:94147/ntbt", "Orphanet:94147" . _:128bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C126562"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:128bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:164500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:128bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:164500"; "DOID:0050958", "MONDO:equivalentTo", "ORDO:94147/e", "Orphanet:94147" . _:128c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715726000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:128c1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0752125"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:128c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0752125"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C126562", "OMIM:164500", "ORDO:94147/e", "Orphanet:94147" . _:128c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATXN7 autosomal dominant cerebellar ataxia type II"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:128c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCA7"; "MONDO:Lexical", "OMIM:164500", "Orphanet:94147" . _:128c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia with pigmentary retinopathy"; "Orphanet:94147" . _:128c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7"; "MONDO:design_pattern" . _:128c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar syndrome-pigmentary maculopathy syndrome"; "Orphanet:94147" . _:128c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia type 7"; "MONDORULE:1", "OMIM:164500" . _:128c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia type 7"; rdfs:comment "preferred label from MONDO" . _:128cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCA, type II"; "GARD:0004955" . _:128cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Adca, type 2"; "OMIM:164500" . _:128ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPCA 3"; "OMIM:164500" . _:128cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPCA III"; "GARD:0004955" . _:128ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPCA with macular Degeneration and external ophthalmoplegia"; "OMIM:164500" . _:128cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPCA with retinal Degeneration"; "OMIM:164500" . _:128d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPCA3"; "GARD:0004955" . _:128d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia, type 2"; "OMIM:164500" . _:128d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "olivopontocerebellar atrophy 3"; "OMIM:164500" . _:128d3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia 7"; "MONDO:Lexical", "OMIM:164500" . _:128d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia 7; SCA7"; "OMIM:164500" . _:128d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:94147" . a owl:Class; rdfs:subClassOf ; "Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms).", "Autosomal dominant cerebellar ataxia (ACDA; see this term) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)."; , ; "ADCA3"@en, "ADCAIII"@en, "Autosomal dominant cerebellar ataxia type 3"@en, "Pure cerebellar syndrome-mild pyramidal signs syndrome"@en; "Autosomal dominant cerebellar ataxia (ACDA; see this term) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)."@en; "orphanet", "orphanet"@en; "ICD-10:G11.8", "ICD10:G11.8", "MONDO:0019793", "UMLS:CN206746"; "ADCA3", "ADCAIII", "Autosomal dominant cerebellar ataxia type III", "Pure cerebellar syndrome - mild pyramidal signs", "Pure cerebellar syndrome-mild pyramidal signs syndrome", "autosomal dominant cerebellar ataxia type 3", "autosomal dominant cerebellar ataxia type III"; "Orphanet:94148"; ; rdfs:label "Autosomal dominant cerebellar ataxia type 3", "Autosomal dominant cerebellar ataxia type III"@en; "ORPHA:94148" . _:128d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant cerebellar ataxia (ACDA; see this term) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)."; "Orphanet:94148" . _:128d7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32074; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32074 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.8"; "Attributed"@en . _:128d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.8"; "NTBT (narrower term maps to a broader term)"@en . _:128d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11.8"; "ORDO:94148/attributed", "ORDO:94148/ntbt", "Orphanet:94148" . _:128dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206746"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:128dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCA3"; "Orphanet:94148" . _:128dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCAIII"; "Orphanet:94148" . _:128ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pure cerebellar syndrome-mild pyramidal signs syndrome"; "Orphanet:94148" . _:128ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type 3"; "Orphanet:94148" . _:128dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type III"; "Orphanet:94148" . _:128e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia type III"; rdfs:comment "preferred label from MONDO" . _:128e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:94148" . a owl:Class; rdfs:subClassOf , ; "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations."; , ; , , , , , ; "COHD:439134", "DOID:12960", "EFO:0004123", "GARD:0000486", "ICD10:Q87.0", "ICD9:755.55", "MONDO:0019796", "MSH:D000168", "MedDRA:10000590", "NCIT:C34348", "SCTID:268262006", "UMLS:C1510455"; "ACS", "acrocephalosyndactylia", "acrocephalosyndactyly", "apert syndrome"; "Orphanet:946"; , ; rdfs:label "Acrocephalosyndactyly" . _:128e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations."; "Orphanet:946" . _:128e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:439134"; "MONDO:equivalentTo" . _:128e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12960"; "EFO:0004123", "MONDO:equivalentTo" . _:128e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0004123"; "MONDO:equivalentTo" . _:128e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000486"; "MONDO:equivalentTo" . _:128e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.0"; "ORDO:946/inclusion", "ORDO:946/ntbt", "Orphanet:946" . _:128e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:755.55"; "DOID:12960", "MONDO:equivalentTo", "i2s" . _:128e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000590"; "ORDO:946/e", "Orphanet:946" . _:128ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34348"; "DOID:12960", "MONDO:equivalentTo", "exact-label-match" . _:128ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:268262006"; "DOID:12960", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:128ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACS"; "Orphanet:946" . _:128edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrocephalosyndactylia"; "MONDO:0005331", "Orphanet:946" . _:128eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrocephalosyndactyly"; "NCIT:C34348" . _:128efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrocephalosyndactyly"; rdfs:comment "preferred label from MONDO" . _:128f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "apert syndrome"; "DOID:12960" . _:128f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:946" . a owl:Class; rdfs:subClassOf , , , , , ; "Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing."; , , ; , , , , , , , ; "FA"@en, "FRDA"@en; "Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing."@en; "orphanet", "orphanet"@en; "COHD:441554", "DOID:12705", "GARD:0006468", "ICD-10:G11.1", "ICD10:G11.1", "ICD9:334.0", "MESH:D005621", "MONDO:0009245", "MSH:D005621", "MeSH:D005621", "MedDRA:10017374", "NCIT:C84718", "OMIM:229300", "OMIM:601992", "SCTID:10394003", "UMLS:C0016719"; "FA", "FRDA", "Friedreich ataxia", "Friedreich ataxia type 1", "Friedreich's ataxia", "Friedreich's tabes", "Hereditary ataxia-Friedreich’s type"; "Friedreich ataxia 1"; "Fa", "Frda1", "Friedreich ataxia 1", "Friedreich ataxia 1; FRDA", "Friedreich ataxia with retained reflexes", "hereditary spinal ataxia", "hereditary spinal sclerosis", "spinocerebellar ataxia, Friedreich"; "Orphanet:95"; , ; rdfs:label "Friedreich ataxia", "Friedreich ataxia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia"^^xsd:anyURI; "ORPHA:95" . _:128f2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing."; "Orphanet:95" . _:128f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:441554"; "MONDO:equivalentTo" . _:128f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12705"; "MONDO:equivalentTo" . _:128f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006468"; "MONDO:equivalentTo" . _:128f6d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32106; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32106 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.1"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:128f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.1"; "NTBT (narrower term maps to a broader term)"@en . _:128f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11.1"; "ORDO:95/inclusion", "ORDO:95/ntbt", "Orphanet:95" . _:128f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:334.0"; "DOID:12705", "MONDO:equivalentTo", "i2s" . _:128fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D005621"; "DOID:12705", "MONDO:equivalentTo", "ORDO:95/e", "Orphanet:95" . _:128fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D005621"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:128fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10017374"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:128fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10017374"; "ORDO:95/e", "Orphanet:95" . _:128fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84718"; "DOID:12705", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:128ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:229300"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12900d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:229300"; "DOID:12705", "MONDO:equivalentTo", "ORDO:95/e", "Orphanet:95" . _:12901d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601992"; "BTNT (broader term maps to a narrower term)"@en . _:12902d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:10394003"; "DOID:12705", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.97" . _:12903d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0016719"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12904d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0016719"; "DOID:12705", "MONDO:equivalentTo", "NCIT:C84718", "ORDO:95/e", "Orphanet:95" . _:12905d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FA"; "Orphanet:95" . _:12906d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FRDA"; "MONDO:Lexical", "OMIM:229300", "Orphanet:95" . _:12907d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich ataxia"; rdfs:comment "preferred label from MONDO" . _:12908d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich ataxia type 1"; "MONDORULE:1", "OMIM:229300" . _:12909d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich's ataxia"; "DOID:12705", "ICD9CM_2006:334.0" . _:1290ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich's tabes"; "CSP2005:0485-3493", "DOID:12705" . _:1290bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich ataxia 1"; "DOID:12705" . _:1290cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fa"; "OMIM:229300" . _:1290dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Frda1"; "OMIM:229300" . _:1290ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich ataxia 1"; "MONDO:Lexical", "OMIM:229300" . _:1290fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich ataxia 1; FRDA"; "OMIM:229300" . _:12910d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Friedreich ataxia with retained reflexes"; "OMIM:229300" . _:12911d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary spinal ataxia"; "GARD:0006468" . _:12912d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary spinal sclerosis"; "GARD:0006468" . _:12913d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia, Friedreich"; "GARD:0006468" . _:12914d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006468" . _:12915d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95" . _:12916d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia"^^xsd:anyURI; "GARD:0006468" . a owl:Class; rdfs:subClassOf , , , ; "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.", "Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)."; ; , , , , , , ; , , ; "orphanet"; "DOID:3133", "GTR:AN0932921", "ICD10:E80.2", "MESH:D017094", "MONDO:0002520", "NCIT:C133887", "SCTID:55056006", "UMLS:C0162533", "UMLS:CN552491"; "ALAD deficiency", "Delta-aminolevulinate dehydratase deficiency", "acute hepatic porphyria", "hepatic porphyria", "liver porphyria", "porphobilinogen synthase deficiency", "porphyria of liver"; "acute porphyria", "hepatic Porphyrias", "porphyria, hepatic"; "Orphanet:95157"; ; rdfs:label "Acute hepatic porphyria" . _:12917d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues."; "MESH:D017094" . _:12918d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95157" . _:12919d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "DOID:3133", "MESH:D017094", "Orphanet:95157" . _:1291ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "MESH:D017094" . _:1291bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:3133"; "MONDO:equivalentTo" . _:1291cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTR:AN0932921"; "UMLS:CN552491" . _:1291dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.2"; "ORDO:95157/inclusion", "ORDO:95157/ntbt", "Orphanet:95157" . _:1291ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D017094"; "DOID:3133", "MONDO:equivalentTo" . _:1291fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C133887"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.93/0.70/1.71" . _:12920d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:55056006"; "DOID:3133", "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.20" . _:12921d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0162533"; "DOID:3133", "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12922d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN552491"; "MONDO:equivalentTo" . _:12923d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALAD deficiency"; "NCIT:C133887" . _:12924d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Delta-aminolevulinate dehydratase deficiency"; "NCIT:C133887" . _:12925d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute hepatic porphyria"; rdfs:comment "preferred label from MONDO" . _:12926d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatic porphyria"; "MESH:D017094", "MONDO:0019798" . _:12927d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "liver porphyria"; "MONDO:design_pattern", "MONDO:patterns/location" . _:12928d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphobilinogen synthase deficiency"; "NCIT:C133887" . _:12929d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria of liver"; "MONDO:design_pattern" . _:1292ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute porphyria"; "DOID:3133", "GTR:AN0932921" . _:1292bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hepatic Porphyrias"; "MESH:D017094" . _:1292cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "porphyria, hepatic"; "MESH:D017094" . _:1292dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95157" . a owl:Class; rdfs:subClassOf ; "Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)."; ; ; "orphanet"; "ICD10:E80.2", "MONDO:0019800"; "acute hepatic porphyria, chronic", "chronic acute hepatic porphyria", "chronic hepatic porphyria"; "Orphanet:95161"; ; rdfs:label "Chronic hepatic porphyria" . _:1292ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)."; "Orphanet:95161" . _:1292fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95161" . _:12930d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E80.2"; "ORDO:95161/attributed", "ORDO:95161/ntbt", "Orphanet:95161" . _:12931d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute hepatic porphyria, chronic"; "MONDO:design_pattern", "MONDO:patterns/chronic" . _:12932d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic acute hepatic porphyria"; "MONDO:design_pattern" . _:12933d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chronic hepatic porphyria"; rdfs:comment "preferred label from MONDO" . _:12934d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95161" . a owl:Class; rdfs:subClassOf ; "SJS-TEN"@en, "Toxic epidermolysis"@en; "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes."@en; "orphanet"@en; "ICD-10:L51.2", "MeSH:D004816", "MedDRA:10044223", "OMIM:608579", "UMLS:C0014518"; rdfs:label "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum"@en; "ORPHA:95455" . _:12935d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:L51.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12936d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D004816"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12937d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10044223"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12938d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:608579"; "NTBT (narrower term maps to a broader term)"@en . _:12939d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0014518"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; ; "ICD-10:E23.0", "ICD10:E23.0", "MONDO:0019824"; "non-acquired pituitary hormone deficiency"; "Orphanet:95488"; ; rdfs:comment "Editor note: consider merging with familial hypopituitarism"; rdfs:label "Non-acquired pituitary hormone deficiency", "Non-acquired pituitary hormone deficiency"@en; "ORPHA:95488" . _:1293ad a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32175; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32175 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Attributed"@en . _:1293bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:1293cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "MONDO:relatedTo", "ORDO:95488/attributed", "ORDO:95488/ntbt", "Orphanet:95488" . _:1293dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-acquired pituitary hormone deficiency"; rdfs:comment "preferred label from MONDO" . _:1293ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95488" . a owl:Class; rdfs:subClassOf , , , , ; "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy."; , ; "Familial congenital hypopituitarism"@en, "Multiple pituitary hormone deficiencies, genetic forms"@en; "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy."@en; "orphanet"@en; "GARD:0002252", "GARD:0010602", "ICD-10:E23.0", "ICD10:E23.0", "MONDO:0013099", "OMIM:182230", "OMIM:262600", "OMIM:613038", "OMIM:613986", "OMIMPS:613038", "SCTID:718182008"; "Familial congenital hypopituitarism", "Multiple pituitary hormone deficiencies, genetic forms", "combined pituitary hormone deficiencies, genetic form", "familial congenital hypopituitarism", "genetic hypopituitarism", "multiple pituitary hormone deficiencies, genetic forms", "pituitary hormone deficiency, combined"; "combined pituitary hormone deficiencies, genetic forms", "familial hypopituitarism"; "Orphanet:95494"; , ; rdfs:label "Combined pituitary hormone deficiencies, genetic forms", "Combined pituitary hormone deficiencies, genetic forms"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism"^^xsd:anyURI; "ORPHA:95494" . _:1293fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy."; "Orphanet:95494" . _:12940d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002252"; "MONDO:equivalentTo" . _:12941d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010602"; "MONDO:equivalentTo", "Orphanet-shared" . _:12942d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32184; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32184 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "Attributed"@en . _:12943d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . _:12944d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E23.0"; "MONDO:relatedTo", "ORDO:95494/attributed", "ORDO:95494/ntbt", "Orphanet:95494" . _:12945d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:182230"; "BTNT (broader term maps to a narrower term)"@en . _:12946d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:262600"; "BTNT (broader term maps to a narrower term)"@en . _:12947d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613038"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12948d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613986"; "BTNT (broader term maps to a narrower term)"@en . _:12949d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:613038"; "MONDO:equivalentTo" . _:1294ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718182008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.44" . _:1294bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined pituitary hormone deficiencies, genetic form"; rdfs:comment "preferred label from MONDO" . _:1294cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial congenital hypopituitarism"; "Orphanet:95494" . _:1294dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic hypopituitarism"; "MONDO:patterns/genetic" . _:1294ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "multiple pituitary hormone deficiencies, genetic forms"; "Orphanet:95494" . _:1294fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pituitary hormone deficiency, combined"; "OMIMPS:613038" . _:12950d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined pituitary hormone deficiencies, genetic forms"; "Orphanet:95494" . _:12951d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial hypopituitarism"; "GARD:0002252" . _:12952d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95494" . _:12953d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism"^^xsd:anyURI; "GARD:0002252" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0019827", "UMLS:CN206775"; "disease associated with non-acquired combined pituitary hormone deficiency", "secondary non-acquired combined pituitary hormone deficiency"; "Orphanet:95495"; ; rdfs:label "Disease associated with non-acquired combined pituitary hormone deficiency", "Disease associated with non-acquired combined pituitary hormone deficiency"@en; "ORPHA:95495" . _:12954d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206775"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12955d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease associated with non-acquired combined pituitary hormone deficiency"; rdfs:comment "preferred label from MONDO" . _:12956d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary non-acquired combined pituitary hormone deficiency"; "MONDO:cjm" . _:12957d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95495" . a owl:Class; rdfs:subClassOf , , , , ; "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.", "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics."; ; , , , , , , , , , ; "Acrodentoosteodysplasia"@en, "Acroosteolysis with osteoporosis and changes in skull and mandible"@en, "Arthrodentoosteodysplasia"@en, "Cheney syndrome"@en, "Hajdu-Cheney syndrome"@en; "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics."@en; "orphanet", "orphanet"@en; "DOID:2736", "GARD:0000508", "ICD-10:M89.5", "ICD10:M89.5", "ICD9:756.59", "MESH:C535663", "MONDO:0007057", "MSH:C531695", "MSH:C535663", "MSH:D031845", "MeSH:C531695", "MeSH:C535663", "MeSH:D031845", "NCIT:C84745", "OMIM:102400", "OMIM:102500", "SCTID:63122002", "UMLS:C0917715", "UMLS:C2930971"; "Acrodentoosteodysplasia", "Acroosteolysis with osteoporosis and changes in skull and mandible", "Arthro-dento-ostéodysplasie", "Arthrodentoosteodysplasia", "Cheney syndrome", "Hajdu-Cheney syndrome", "acrodentoosteodysplasia", "acroosteolysis dominant type", "acroosteolysis with osteoporosis and changes in skull and mandible"; "HJCYS", "Hajdu-Cheney syndrome; HJCYS", "acroosteolysis with osteoporosis and changes in skull and mandible", "serpentine fibula-polycystic kidney syndrome", "serpentine fibula-polycystic kidneys syndrome"; "Orphanet:955"; , ; rdfs:label "Acroosteolysis dominant type", "Acroosteolysis dominant type"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type"^^xsd:anyURI; "ORPHA:955" . _:12958d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics."; "Orphanet:955" . _:12959d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:2736"; "MONDO:equivalentTo" . _:1295ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000508"; "MONDO:equivalentTo" . _:1295bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32210; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32210 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M89.5"; "Attributed"@en . _:1295cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:M89.5"; "NTBT (narrower term maps to a broader term)"@en . _:1295dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:M89.5"; "ORDO:955/attributed", "ORDO:955/ntbt", "Orphanet:955" . _:1295ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.59"; "MONDO:relatedTo", "i2s" . _:1295fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535663"; "MONDO:equivalentTo", "ORDO:955/e", "Orphanet:955" . _:12960d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C531695"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12961d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535663"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12962d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D031845"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12963d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84745"; "DOID:2736", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/28.52" . _:12964d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102400"; "BTNT (broader term maps to a narrower term)"@en . _:12965d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102500"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12966d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102500"; "DOID:2736", "MONDO:equivalentTo", "ORDO:955/e", "Orphanet:955" . _:12967d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:63122002"; "DOID:2736", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12968d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0917715"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12969d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0917715"; "DOID:2736", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C84745", "OMIM:102500", "ORDO:955/e", "Orphanet:955" . _:1296ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2930971"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1296bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2930971"; "MONDO:equivalentTo", "ORDO:955/e", "Orphanet:955" . _:1296cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Arthrodentoosteodysplasia"; "Orphanet:955" . _:1296dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cheney syndrome"; "OMIM:102500", "Orphanet:955" . _:1296ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hajdu-Cheney syndrome"; "MONDO:Lexical", "OMIM:102500", "Orphanet:955" . _:1296fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrodentoosteodysplasia"; "Orphanet:955" . _:12970d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acroosteolysis dominant type"; rdfs:comment "preferred label from MONDO" . _:12971d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acroosteolysis with osteoporosis and changes in skull and mandible"; "Orphanet:955" . _:12972d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HJCYS"; "MONDO:Lexical", "OMIM:102500" . _:12973d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hajdu-Cheney syndrome; HJCYS"; "OMIM:102500" . _:12974d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acroosteolysis with osteoporosis and changes in skull and mandible"; "OMIM:102500" . _:12975d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "serpentine fibula-polycystic kidney syndrome"; "OMIM:102500" . _:12976d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "serpentine fibula-polycystic kidneys syndrome"; "GARD:0000508" . _:12977d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0000508" . _:12978d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:955" . _:12979d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type"^^xsd:anyURI; "GARD:0000508" . a owl:Class; rdfs:subClassOf ; "ICD-10:E23.0"; rdfs:label "Acquired pituitary hormone deficiency"@en; "ORPHA:95502" . _:1297ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E23.0"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Pituitary hormone deficiency from tumoral origin"@en; "ORPHA:95503" . a owl:Class; rdfs:subClassOf ; rdfs:label "Pituitary hormone deficiency from meningeal origin"@en; "ORPHA:95505" . a owl:Class; rdfs:subClassOf , , , ; "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly (see this term), that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles."; , ; "This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2911 with label: Poland syndrome"@en; "GARD:0000511", "ICD10:Q87.8", "MONDO:0019840", "SCTID:720413004"; "acropectororenal dysplasia"; "acro-pectoro-renal field defect", "brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys"; "Orphanet:956"; , ; rdfs:label "Acro-pectoro-renal dysplasia", "Acropectororenal dysplasia"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect"^^xsd:anyURI . _:1297bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly (see this term), that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles."; "Orphanet:956" . _:1297cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000511"; "MONDO:equivalentTo" . _:1297dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.8"; "ORDO:956/attributed", "ORDO:956/ntbt", "Orphanet:956" . _:1297ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:720413004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.25" . _:1297fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acropectororenal dysplasia"; rdfs:comment "preferred label from MONDO" . _:12980d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acro-pectoro-renal field defect"; "GARD:0000511" . _:12981d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys"; "GARD:0000511" . _:12982d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:956" . _:12983d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect"^^xsd:anyURI; "GARD:0000511" . a owl:Class; rdfs:subClassOf , , , , , ; "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations."; , ; , , ; "Congenital adrenal hyperplasia due to cytochrome POR deficiency"@en, "POR deficiency"@en, "PORD"@en; "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations."@en; "orphanet", "orphanet"@en; "GARD:0012664", "ICD-10:E25.0", "ICD10:E25.0", "MONDO:0013310", "OMIM:201750", "OMIM:613571", "SCTID:715733000"; "Congenital adrenal hyperplasia due to cytochrome POR deficiency", "POR deficiency", "PORD", "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency", "congenital adrenal hyperplasia due to cytochrome POR deficiency"; "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency", "disordered steroidogenesis due to POR deficiency", "disordered steroidogenesis due to cytochrome P450 oxidoreductase", "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency"; "Orphanet:95699"; , ; rdfs:label "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency", "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency"^^xsd:anyURI; "ORPHA:95699" . _:12984d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations."; "Orphanet:95699" . _:12985d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012664"; "MONDO:equivalentTo" . _:12986d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32254; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32254 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "Attributed"@en . _:12987d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E25.0"; "NTBT (narrower term maps to a broader term)"@en . _:12988d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E25.0"; "ORDO:95699/attributed", "ORDO:95699/ntbt", "Orphanet:95699" . _:12989d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201750"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:1298ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613571"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1298bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:613571"; "MONDO:equivalentTo", "ORDO:95699/e", "Orphanet:95699" . _:1298cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:715733000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:1298dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POR deficiency"; "Orphanet:95699" . _:1298ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PORD"; "Orphanet:95699" . _:1298fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"; rdfs:comment "preferred label from MONDO" . _:12990d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital adrenal hyperplasia due to cytochrome POR deficiency"; "Orphanet:95699" . _:12991d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency"; "OMIM:613571" . _:12992d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disordered steroidogenesis due to POR deficiency"; "OMIM:613571" . _:12993d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disordered steroidogenesis due to cytochrome P450 oxidoreductase"; "GARD:0012664" . _:12994d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency"; "OMIM:613571" . _:12995d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012664" . _:12996d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95699" . _:12997d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency"^^xsd:anyURI; "GARD:0012664" . a owl:Class; rdfs:subClassOf ; "A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause."@en; "orphanet"@en; "ICD-10:Q55.6", "UMLS:C0266435", "UMLS:C1387005"; rdfs:label "Idiopathic isolated micropenis"@en; "ORPHA:95707" . _:12998d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q55.6"; "NTBT (narrower term maps to a broader term)"@en . _:12999d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266435"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:1299ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1387005"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , ; "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."; ; "ICD10:E28.3", "MONDO:0019852"; "hereditary primary ovarian failure", "inherited primary ovarian failure"; "non-acquired premature ovarian failure"; "Orphanet:95710"; ; rdfs:label "Non-acquired premature ovarian failure" . _:1299bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:1299cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E28.3"; "MONDO:relatedTo", "ORDO:95710/attributed", "ORDO:95710/ntbt", "Orphanet:95710" . _:1299dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary primary ovarian failure"; "MONDO:patterns/hereditary" . _:1299ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited primary ovarian failure"; rdfs:comment "preferred label from MONDO" . _:1299fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:95710" . a owl:Class; rdfs:subClassOf , , , ; , ; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0019875", "UMLS:CN206810"; "Beckwith-Wiedemann syndrome due to 11p15 microduplication"; "Orphanet:96076"; ; rdfs:label "Beckwith-Wiedemann syndrome due to 11p15 microduplication", "Beckwith-Wiedemann syndrome due to 11p15 microduplication"@en; "ORPHA:96076" . _:129a0d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32281; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32281 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:129a1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:129a2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:96076/attributed", "ORDO:96076/ntbt", "Orphanet:96076" . _:129a3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206810"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:129a4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to 11p15 microduplication"; rdfs:comment "preferred label from MONDO" . _:129a5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:96076" . a owl:Class; rdfs:subClassOf , , ; "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)."; , ; "UPD(7)mat"@en; "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)."@en; "orphanet"@en; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0019913", "UMLS:CN206841"; "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7", "UPD(7)mat", "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"; "Orphanet:96182"; ; rdfs:label "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7", "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"@en; "ORPHA:96182" . _:129a6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)."; "Orphanet:96182" . _:129a7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32289; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32289 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:129a8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:129a9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:96182/attributed", "ORDO:96182/ntbt", "Orphanet:96182" . _:129aad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206841"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:129abd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7"; "MONDORULE:1", "Orphanet:96182" . _:129acd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPD(7)mat"; "Orphanet:96182" . _:129add a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"; rdfs:comment "preferred label from MONDO" . _:129aed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:96182" . a owl:Class; rdfs:subClassOf , , , ; , ; "Mosaic paternal uniparental disomy of chromosome 11"@en, "UPD(11)pat"@en; "ICD-10:Q87.3", "ICD10:Q87.3", "MONDO:0019923", "UMLS:CN206842"; "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11", "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11", "Mosaic paternal uniparental disomy of chromosome 11", "UPD(11)pat"; "Orphanet:96193"; ; rdfs:label "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11", "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11"@en; "ORPHA:96193" . _:129afd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32298; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32298 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "Attributed"@en . _:129b0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.3"; "NTBT (narrower term maps to a broader term)"@en . _:129b1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.3"; "ORDO:96193/attributed", "ORDO:96193/ntbt", "Orphanet:96193" . _:129b2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206842"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:129b3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11"; rdfs:comment "preferred label from MONDO" . _:129b4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11"; "MONDORULE:2", "Orphanet:96193" . _:129b5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mosaic paternal uniparental disomy of chromosome 11"; "Orphanet:96193" . _:129b6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPD(11)pat"; "Orphanet:96193" . _:129b7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:96193" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic deafness" . a owl:Class; rdfs:subClassOf ; "Corticotroph pituitary adenoma"@en, "Pituitary corticotroph micro-adenoma"@en, "Pituitary-dependent Cushing syndrome"@en; "Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma."@en; "orphanet"@en; "ICD-10:D35.2", "ICD-10:E24.0", "MeSH:D047748", "MedDRA:10035109", "OMIM:219090", "UMLS:C0010481", "UMLS:C0221406"; rdfs:label "Cushing disease"@en; "ORPHA:96253" . _:129b8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . _:129b9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129bad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D047748"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129bbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10035109"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129bcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:219090"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129bdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0010481"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129bed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0221406"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , , , , , ; "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males."; , , , , ; "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males."@en; "orphanet", "orphanet"@en; "GARD:0005676", "ICD-10:Q98.1", "ICD10:Q98.1", "ICD9:758.81", "MONDO:0019928", "MedDRA:10048228", "NCIT:C89799", "SCTID:78317008", "UMLS:C0265498"; "48, XXXY syndrome", "48,XXXY syndrome"; "XXXY syndrome"; "Orphanet:96263"; , ; rdfs:label "48,XXXY syndrome", "48,XXXY syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome"^^xsd:anyURI; "ORPHA:96263" . _:129bfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males."; "Orphanet:96263" . _:129c0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005676"; "MONDO:equivalentTo" . _:129c1d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32317; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32317 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q98.1"; "Attributed"@en . _:129c2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q98.1"; "NTBT (narrower term maps to a broader term)"@en . _:129c3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q98.1"; "ORDO:96263/attributed", "ORDO:96263/ntbt", "Orphanet:96263" . _:129c4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.81"; "MONDO:relatedTo", "i2s" . _:129c5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048228"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129c6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10048228"; "ORDO:96263/e", "Orphanet:96263" . _:129c7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C89799"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.73/0.37/0.47" . _:129c8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:78317008"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/8.78" . _:129c9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265498"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129cad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265498"; "MONDO:equivalentTo", "NCIT:C89799", "ORDO:96263/e", "Orphanet:96263" . _:129cbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "48, XXXY syndrome"; "NCIT:C89799" . _:129ccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "48,XXXY syndrome"; rdfs:comment "preferred label from MONDO" . _:129cdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XXXY syndrome"; "GARD:0005676" . _:129ced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005676" . _:129cfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:96263" . _:129d0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome"^^xsd:anyURI; "GARD:0005676" . a owl:Class; rdfs:subClassOf , , , , , , , ; "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males."; , , ; "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males."@en; "orphanet", "orphanet"@en; "GARD:0005679", "ICD-10:Q98.1", "ICD10:Q98.1", "ICD9:758.81", "MONDO:0019929", "SCTID:38847009", "UMLS:C0265499"; "49,XXXXY syndrome"; "49,XXXXY", "XXXXY syndrome"; "Orphanet:96264"; , ; rdfs:label "49,XXXXY syndrome", "49,XXXXY syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome"^^xsd:anyURI; "ORPHA:96264" . _:129d1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males."; "Orphanet:96264" . _:129d2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005679"; "MONDO:equivalentTo" . _:129d3d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32336; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32336 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q98.1"; "Attributed"@en . _:129d4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q98.1"; "NTBT (narrower term maps to a broader term)"@en . _:129d5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q98.1"; "ORDO:96264/attributed", "ORDO:96264/ntbt", "Orphanet:96264" . _:129d6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.81"; "MONDO:relatedTo", "i2s" . _:129d7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:38847009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.77/7.59" . _:129d8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265499"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129d9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0265499"; "MONDO:equivalentTo", "Orphanet:96264" . _:129dad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "49,XXXXY syndrome"; rdfs:comment "preferred label from MONDO" . _:129dbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "49,XXXXY"; "GARD:0005679" . _:129dcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XXXXY syndrome"; "GARD:0005679" . _:129ddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005679" . _:129ded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:96264" . _:129dfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome"^^xsd:anyURI; "GARD:0005679" . a owl:Class; rdfs:subClassOf ; "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations."@en; "orphanet"@en; "ICD-10:E22.0", "MeSH:D000172", "MedDRA:10000599", "OMIM:102200", "OMIM:300943", "UMLS:C0001206"; rdfs:label "Acromegaly"@en; "ORPHA:963" . _:129e0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E22.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129e1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000172"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129e2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10000599"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129e3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102200"; "NTBT (narrower term maps to a broader term)"@en . _:129e4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300943"; "BTNT (broader term maps to a narrower term)"@en . _:129e5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0001206"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0019936", "UMLS:CN227722"; "rare otorhinolaryngological malformation"; "Orphanet:96333"; , ; rdfs:label "Rare otorhinolaryngological malformation"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:129e6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227722"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:129e7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare otorhinolaryngological malformation"; rdfs:comment "preferred label from MONDO" . _:129e8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:96333" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare gynecologic or obstetric disease"@en; "ORPHA:96344" . a owl:Class; rdfs:subClassOf , ; ; , , ; "ICD9:751.5", "MESH:C537771", "MONDO:0019938", "MSH:C537771", "MeSH:C537771", "SCTID:33225004", "UMLS:C3495676"; "anorectal malformation"; "Orphanet:96346"; ; rdfs:label "Anorectal malformation", "Anorectal malformation"@en; "ORPHA:96346" . _:129e9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:751.5"; "MONDO:relatedTo", "i2s" . _:129ead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537771"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:96346/e", "Orphanet:96346" . _:129ebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537771"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129ecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:33225004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.30" . _:129edd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495676"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129eed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anorectal malformation"; rdfs:comment "preferred label from MONDO" . _:129efd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:96346" . a owl:Class; rdfs:subClassOf , , ; "Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected.", "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected."; , , , , , , ; "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected."@en; "orphanet", "orphanet"@en; "DOID:0060347", "ICD-10:Q87.2", "ICD10:Q87.2", "MESH:C563159", "MONDO:0007059", "OMIM:102520", "OMIM:201310", "SCTID:720458005", "UMLS:C0796290", "UMLS:C3495490", "UMLS:CN206860"; "acrorenal syndrome"; "Orphanet:971"; ; rdfs:label "Acrorenal syndrome", "Acrorenal syndrome"@en; "ORPHA:971" . _:129f0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected."; "Orphanet:971" . _:129f1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060347"; "MONDO:equivalentTo" . _:129f2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32368; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32368 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "Attributed"@en . _:129f3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "NTBT (narrower term maps to a broader term)"@en . _:129f4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.2"; "ORDO:971/attributed", "ORDO:971/ntbt", "Orphanet:971" . _:129f5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C563159"; "DOID:0060347", "MONDO:equivalentTo", "MONDO:ontobio" . _:129f6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102520"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129f7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102520"; "DOID:0060347", "MONDO:equivalentTo", "ORDO:971/e", "Orphanet:971" . _:129f8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:201310"; "BTNT (broader term maps to a narrower term)"@en . _:129f9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:720458005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.45" . _:129fad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0796290"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129fbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495490"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:129fcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3495490"; "DOID:0060347", "MONDO:equivalentTo", "OMIM:102520", "Orphanet:971" . _:129fdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206860"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:129fed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrorenal syndrome"; "OMIM:102520" . _:129ffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acrorenal syndrome"; rdfs:comment "preferred label from MONDO" . _:12a00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:971" . a owl:Class; rdfs:subClassOf , , ; "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy."; ; , , , , ; "GSD due to phosphoglycerate mutase deficiency"@en, "GSD type 10"@en, "Glycogenosis due to phosphoglycerate mutase deficiency"@en, "Muscle phosphoglycerate mutase deficiency"@en, "Myopathy due to phosphoglycerate mutase deficiency"@en; "Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms)."@en; "orphanet"@en; "GARD:0009964", "ICD-10:E74.0", "ICD10:E74.0", "MESH:C536176", "MONDO:0009865", "NCIT:C131647", "OMIM:261670", "SCTID:61772003", "UMLS:C0268149"; "GSD due to phosphoglycerate mutase deficiency", "GSD type 10", "Glycogenosis due to phosphoglycerate mutase deficiency", "Muscle phosphoglycerate mutase deficiency", "Myopathy due to phosphoglycerate mutase deficiency", "PGAM2 glycogen storage disease", "glycogen storage disease caused by mutation in PGAM2", "glycogen storage disease due to phosphoglycerate mutase deficiency", "glycogen storage disease type 10", "glycogenosis due to phosphoglycerate mutase deficiency", "muscle phosphoglycerate mutase deficiency", "myopathy due to phosphoglycerate mutase deficiency"; "GSD 10", "GSD10", "GSDX", "PGAM deficiency", "PGAMM deficiency", "Phosphoglycerate mutase deficiency", "Phosphoglycerate mutase, muscle, deficiency of", "glycogen storage disease 10", "glycogen storage disease X", "glycogen storage disease X; GSD10", "myopathy due to Phosphoglycerate mutase deficiency"; "Orphanet:97234"; ; rdfs:label "Glycogen storage disease due to phosphoglycerate mutase deficiency", "Glycogen storage disease due to phosphoglycerate mutase deficiency"@en; "ORPHA:97234" . _:12a01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy."; "NCIT:C131647" . _:12a02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009964"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12a03d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32386; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32386 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Attributed"@en . _:12a04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:12a05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:97234/attributed", "ORDO:97234/ntbt", "Orphanet:97234" . _:12a06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536176"; "MONDO:equivalentTo", "MONDO:ontobio" . _:12a07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C131647"; "MONDO:equivalentTo" . _:12a08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261670"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:261670"; "MONDO:equivalentTo", "ORDO:97234/e", "Orphanet:97234" . _:12a0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:61772003"; "MONDO:equivalentTo" . _:12a0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268149"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to phosphoglycerate mutase deficiency"; "Orphanet:97234" . _:12a0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD type 10"; "Orphanet:97234" . _:12a0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGAM2 glycogen storage disease"; "MONDO:design_pattern", "MONDO:patterns/disease_series_by_gene" . _:12a0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease caused by mutation in PGAM2"; "MONDO:design_pattern" . _:12a10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to phosphoglycerate mutase deficiency"; rdfs:comment "preferred label from MONDO" . _:12a11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 10"; "MONDORULE:2", "OMIM:261670" . _:12a12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to phosphoglycerate mutase deficiency"; "Orphanet:97234" . _:12a13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle phosphoglycerate mutase deficiency"; "Orphanet:97234" . _:12a14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy due to phosphoglycerate mutase deficiency"; "Orphanet:97234" . _:12a15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD 10"; "OMIM:261670" . _:12a16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD10"; "MONDO:Lexical", "OMIM:261670" . _:12a17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSDX"; "GARD:0009964" . _:12a18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGAM deficiency"; "GARD:0009964" . _:12a19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGAMM deficiency"; "OMIM:261670" . _:12a1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phosphoglycerate mutase deficiency"; "GARD:0009964" . _:12a1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Phosphoglycerate mutase, muscle, deficiency of"; "OMIM:261670" . _:12a1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease 10"; "OMIM:261670" . _:12a1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease X"; "MONDO:Lexical", "OMIM:261670" . _:12a1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease X; GSD10"; "OMIM:261670" . _:12a1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy due to Phosphoglycerate mutase deficiency"; "OMIM:261670" . _:12a20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97234" . a owl:Class; rdfs:subClassOf , ; "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres."; , , , ; "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres."@en; "orphanet"@en; "DOID:0080090", "GARD:0012162", "ICD-10:G71.2", "ICD10:G71.2", "ICD9:359.89", "MONDO:0019948", "OMIM:300717", "OMIM:300718", "SCTID:42779002", "UMLS:C0270970"; "reducing body myopathy"; "Orphanet:97239"; , ; rdfs:label "Reducing body myopathy", "Reducing body myopathy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy"^^xsd:anyURI; "ORPHA:97239" . _:12a21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres."; "Orphanet:97239" . _:12a22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080090"; "MONDO:equivalentTo" . _:12a23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012162"; "MONDO:equivalentTo" . _:12a24d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32420; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32420 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Attributed"@en . _:12a25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:12a26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "ORDO:97239/attributed", "ORDO:97239/ntbt", "Orphanet:97239" . _:12a27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.89"; "MONDO:relatedTo", "i2s" . _:12a28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300717"; "BTNT (broader term maps to a narrower term)"@en . _:12a29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300718"; "BTNT (broader term maps to a narrower term)"@en . _:12a2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:42779002"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.60" . _:12a2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0270970"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "reducing body myopathy"; rdfs:comment "preferred label from MONDO" . _:12a2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012162" . _:12a2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97239" . _:12a2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy"^^xsd:anyURI; "GARD:0012162" . a owl:Class; rdfs:subClassOf ; " and Nesprin-1-related CMD; see these terms).", "and Nesprin-1-related CMD; see these terms)."; , , , ; , , , ; "CMD"@en, "MDC"@en; ", and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms)."@en; "orphanet", "orphanet"@en; "DOID:0050557", "EFO:0006819", "GARD:0009138", "ICD-10:G71.2", "ICD10:G71.2", "ICD9:359.0", "MONDO:0019950", "SCTID:240059009", "UMLS:C0026850", "UMLS:C0699743"; "CMD", "MDC", "congenital muscular dystrophy"; "congenital MD"; "Orphanet:97242"; ; rdfs:label "Congenital muscular dystrophy", "Congenital muscular dystrophy"@en; "ORPHA:97242" . _:12a30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "and Nesprin-1-related CMD; see these terms)."; "Orphanet:97242" . _:12a31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050557"; "MONDO:equivalentTo" . _:12a32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0006819"; "MONDO:equivalentTo" . _:12a33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009138"; "MONDO:equivalentTo", "Orphanet-shared" . _:12a34d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32437; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32437 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12a35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:12a36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "ORDO:97242/inclusion", "ORDO:97242/ntbt", "Orphanet:97242" . _:12a37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.0"; "DOID:0050557" . _:12a38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:240059009"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12a39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026850"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0699743"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0699743"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:97242/e", "Orphanet:97242" . _:12a3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMD"; "Orphanet:97242" . _:12a3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDC"; "Orphanet:97242" . _:12a3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:12a3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital MD"; "GARD:0009138" . _:12a40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97242" . a owl:Class; rdfs:subClassOf ; , , , ; "DOID:0080100", "GARD:0005898", "ICD-10:G71.2", "ICD10:G71.2", "MONDO:0019952", "MedDRA:10062547", "UMLS:C0027127", "UMLS:C0270960"; "congenital myopathy"; "batten Turner congenital myopathy", "myopathy congenital"; "Orphanet:97245"; ; rdfs:label "Congenital myopathy", "Congenital myopathy"@en; "ORPHA:97245" . _:12a41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080100"; "MONDO:equivalentTo" . _:12a42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005898"; "MONDO:equivalentTo", "Orphanet-shared" . _:12a43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a44d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32454; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32454 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Specific code (The term has its own code in the ICD10)"@en . _:12a45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "ORDO:97245/e", "ORDO:97245/specific", "Orphanet:97245" . _:12a46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062547"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10062547"; "ORDO:97245/e", "Orphanet:97245" . _:12a48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027127"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0270960"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital myopathy"; rdfs:comment "preferred label from MONDO" . _:12a4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "batten Turner congenital myopathy"; "GARD:0005898" . _:12a4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy congenital"; "GARD:0005898" . _:12a4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97245" . a owl:Class; rdfs:subClassOf , , ; "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites."; , , , , , ; "Carney dyad"@en, "Carney-Stratakis dyad"@en, "GIST-paraganglioma dyad"@en, "Paraganglioma and gastric stromal sarcoma"@en; "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites."@en; "orphanet"@en; "GARD:0010643", "ICD-10:D44.8", "ICD10:D44.8", "MESH:C564650", "MONDO:0011740", "NCIT:C94831", "OMIM:606864", "SCTID:722377004", "UMLS:C1847319"; "Carney dyad", "Carney-Stratakis dyad", "Carney-Stratakis syndrome", "GIST-paraganglioma dyad", "Paraganglioma and gastric stromal sarcoma", "gist-paraganglioma dyad", "paraganglioma and gastric stromal sarcoma"; "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma", "paraganglioma and gastrointestinal stromal tumor", "paraganglioma and gist"; "Orphanet:97286"; ; rdfs:label "Carney-Stratakis syndrome", "Carney-Stratakis syndrome"@en; "ORPHA:97286" . _:12a4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites."; "Orphanet:97286" . _:12a4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010643"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12a50d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32467; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32467 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "Attributed"@en . _:12a51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D44.8"; "NTBT (narrower term maps to a broader term)"@en . _:12a52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D44.8"; "MONDO:subClassOf", "ORDO:97286/attributed", "ORDO:97286/ntbt", "Orphanet:97286" . _:12a53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C564650"; "MONDO:equivalentTo", "MONDO:ontobio" . _:12a54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C94831"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12a55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606864"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606864"; "MONDO:equivalentTo", "ORDO:97286/e", "Orphanet:97286" . _:12a57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:722377004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.57" . _:12a58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1847319"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1847319"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C94831", "OMIM:606864", "Orphanet:97286" . _:12a5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney dyad"; "Orphanet:97286" . _:12a5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney-Stratakis dyad"; "Orphanet:97286" . _:12a5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney-Stratakis syndrome"; "OMIM:606864" . _:12a5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney-Stratakis syndrome"; rdfs:comment "preferred label from MONDO" . _:12a5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gist-paraganglioma dyad"; "Orphanet:97286" . _:12a5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "paraganglioma and gastric stromal sarcoma"; "OMIM:606864", "Orphanet:97286" . _:12a60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma"; "GARD:0010643" . _:12a61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "paraganglioma and gastrointestinal stromal tumor"; "OMIM:606864" . _:12a62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "paraganglioma and gist"; "GARD:0010643" . _:12a63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97286" . a owl:Class; rdfs:subClassOf ; "Bronchial NET"@en; "ICD-10:D38.1"; rdfs:label "Bronchial neuroendocrine tumor"@en; "ORPHA:97287" . _:12a64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D38.1"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , ; "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)."; ; , , ; "Adactyly of hand, unilateral"@en, "Digits 2-5 hypodactyly, unilateral"@en, "Digits 2-5 oligodactyly, unilateral"@en; "Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced."@en; "orphanet", "orphanet"@en; "GARD:0000377", "ICD-10:Q71.3", "ICD10:Q71.3", "MESH:C562417", "MONDO:0007062", "OMIM:102650"; "Adactylia of hand, unilateral", "Adactyly of hand, unilateral", "Digits 2-5 hypodactyly, unilateral", "Digits 2-5 oligodactyly, unilateral", "congenital absence/hypoplasia of fingers excluding thumb, unilateral", "digits 2-5 hypodactyly, unilateral", "digits 2-5 oligodactyly, unilateral"; "adactylia unilateral", "adactylia, unilateral", "terminal transverse defects of hand, unilateral"; "Orphanet:973"; , ; rdfs:label "Congenital absence/hypoplasia of fingers excluding thumb, unilateral", "Congenital absence/hypoplasia of fingers excluding thumb, unilateral"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral"^^xsd:anyURI; "ORPHA:973" . _:12a65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)."; "Orphanet:973" . _:12a66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000377"; "MONDO:equivalentTo" . _:12a67d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32491; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32491 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.3"; "Attributed"@en . _:12a68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q71.3"; "NTBT (narrower term maps to a broader term)"@en . _:12a69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q71.3"; "ORDO:973/attributed", "ORDO:973/ntbt", "Orphanet:973" . _:12a6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C562417"; "MONDO:equivalentTo", "MONDO:ontobio" . _:12a6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102650"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:102650"; "GARD:0000377", "MONDO:equivalentTo", "ORDO:973/e", "Orphanet:973" . _:12a6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Adactyly of hand, unilateral"; "Orphanet:973" . _:12a6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital absence/hypoplasia of fingers excluding thumb, unilateral"; rdfs:comment "preferred label from MONDO" . _:12a6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digits 2-5 hypodactyly, unilateral"; "Orphanet:973" . _:12a70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "digits 2-5 oligodactyly, unilateral"; "Orphanet:973" . _:12a71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adactylia unilateral"; "GARD:0000377" . _:12a72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adactylia, unilateral"; "OMIM:102650" . _:12a73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "terminal transverse defects of hand, unilateral"; "GARD:0000377", "OMIM:102650" . _:12a74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:973" . _:12a75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral"^^xsd:anyURI; "GARD:0000377" . a owl:Class; rdfs:subClassOf ; "Clear cell sarcoma of the tendons and aponeuroses"@en; "UMLS:C0206651"; rdfs:label "Melanoma of soft tissue"@en; "ORPHA:97338" . _:12a76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206651"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12."; , , , , , ; , , , ; "DOID:0060856", "GARD:0006795", "HP:0011536", "ICD-10:Q20.6", "ICD10:Q20.6", "ICD10:Q89.3", "MONDO:0008832", "MedDRA:10068335", "OMIM:208530", "UMLS:C0175707"; "Ivemark syndrome", "asplenia with cardiovascular anomalies", "right atrial isomerism", "right atrial isomerism (disease)"; "Polyasplenia", "RAI", "Vah, autosomal recessive", "asplenia syndrome", "bilateral right-sidedness sequence", "heterotaxy, Visceroatrial, autosomal recessive", "polysplenia syndrome", "right atrial isomerism; RAI", "right isomerism", "splenic agenesis syndrome"; "Orphanet:97548"; ; rdfs:label "Ivemark syndrome", "Ivemark syndrome"@en; "ORPHA:97548" . _:12a77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12."; "DOID:0060856", "PMID:14648004", "PMID:20413652" . _:12a78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060856"; "MONDO:equivalentTo" . _:12a79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006795"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12a7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0011536"; "MONDO:otherHierarchy", "ontobio" . _:12a7bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32512; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q20.6"; "Attributed"@en . _:12a7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q20.6"; "NTBT (narrower term maps to a broader term)"@en . _:12a7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q20.6"; "DOID:0060856", "ORDO:97548/attributed", "ORDO:97548/ntbt", "Orphanet:97548" . _:12a7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068335"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068335"; "ORDO:97548/e", "Orphanet:97548" . _:12a80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:208530"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:208530"; "DOID:0060856", "MONDO:equivalentTo", "ORDO:97548/e", "Orphanet:97548" . _:12a82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0175707"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ivemark syndrome"; "DOID:0060856", "OMIM:208530" . _:12a84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "asplenia with cardiovascular anomalies"; "DOID:0060856" . _:12a85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "right atrial isomerism"; "MONDO:Lexical", "MONDO:ambiguous", "OMIM:208530" . _:12a86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "right atrial isomerism (disease)"; rdfs:comment "preferred label from MONDO" . _:12a87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Polyasplenia"; "OMIM:208530" . _:12a88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RAI"; "MONDO:Lexical", "OMIM:208530" . _:12a89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vah, autosomal recessive"; "OMIM:208530" . _:12a8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "asplenia syndrome"; "GARD:0006795" . _:12a8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bilateral right-sidedness sequence"; "GARD:0006795" . _:12a8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heterotaxy, Visceroatrial, autosomal recessive"; "OMIM:208530" . _:12a8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polysplenia syndrome"; "OMIM:208530" . _:12a8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "right atrial isomerism; RAI"; "OMIM:208530" . _:12a8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "right isomerism"; "OMIM:208530" . _:12a90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "splenic agenesis syndrome"; "GARD:0006795" . _:12a91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97548" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:N04", "MONDO:0019987"; "congenital and infantile nephrotic syndrome"; "Orphanet:97556"; ; rdfs:label "Congenital and infantile nephrotic syndrome" . _:12a92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital and infantile nephrotic syndrome"; rdfs:comment "preferred label from MONDO" . _:12a93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97556" . a owl:Class; rdfs:subClassOf , , , , , , ; "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)."; , , ; , , , , , , ; "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)."@en; "orphanet", "orphanet"@en; "DOID:4184", "GARD:0010758", "ICD-10:E20.1", "ICD10:E20.1", "ICD9:275.49", "MESH:D011547", "MONDO:0019992", "MSH:D011547", "MeSH:D011547", "MedDRA:10037126", "NCIT:C99027", "SCTID:58976002", "UMLS:C0033806"; "pseudohypoparathyroidism"; "Orphanet:97593"; , ; rdfs:label "Pseudohypoparathyroidism", "Pseudohypoparathyroidism"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism"^^xsd:anyURI; "ORPHA:97593" . _:12a94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)."; "Orphanet:97593" . _:12a95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:4184"; "MONDO:equivalentTo" . _:12a96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010758"; "MONDO:equivalentTo" . _:12a97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a98d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32542; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E20.1"; "Specific code (The term has its own code in the ICD10)"@en . _:12a99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E20.1"; "DOID:4184", "MONDO:equivalentTo", "ORDO:97593/e", "ORDO:97593/specific", "Orphanet:97593" . _:12a9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:275.49"; "MONDO:relatedTo", "i2s" . _:12a9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D011547"; "DOID:4184", "MONDO:equivalentTo", "ORDO:97593/e", "Orphanet:97593" . _:12a9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D011547"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037126"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12a9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10037126"; "ORDO:97593/e", "Orphanet:97593" . _:12a9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C99027"; "DOID:4184", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.87/15.87" . _:12aa0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:58976002"; "DOID:4184", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:12aa1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033806"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12aa2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0033806"; "DOID:4184", "MONDO:equivalentTo", "NCIT:C99027", "ORDO:97593/e", "Orphanet:97593" . _:12aa3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pseudohypoparathyroidism"; rdfs:comment "preferred label from MONDO" . _:12aa4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010758" . _:12aa5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97593" . _:12aa6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism"^^xsd:anyURI; "GARD:0010758" . a owl:Class; rdfs:subClassOf , , , ; "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy."; , ; , , , , , , ; "2,8-dihydroxyadenine urolithiasis"@en, "APRT deficiency"@en; "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy."@en; "orphanet", "orphanet"@en; "DOID:0060350", "GARD:0000546", "GARD:0010666", "ICD-10:E79.8", "ICD10:E79.8", "MESH:C538228", "MONDO:0013869", "NCIT:C121564", "OMIM:614723", "SCTID:124274002", "UMLS:C0268120", "UMLS:C3665382"; "2,8-dihydroxyadenine urolithiasis", "2,8-dihydroxyadeninuria disease", "APRT deficiency", "adenine phosphoribosyltransferase deficiency"; "APRTD", "Dihydroxyadeninuria", "adenine phosphoribosyltransferase deficiency; APRTD", "nephrolithiasis, Dha", "urolithiasis, 2,8-dihydroxyadenine", "urolithiasis, Dha"; "Orphanet:976"; , ; rdfs:label "Adenine phosphoribosyltransferase deficiency", "Adenine phosphoribosyltransferase deficiency"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria"^^xsd:anyURI; "ORPHA:976" . _:12aa7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy."; "Orphanet:976" . _:12aa8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060350"; "MONDO:equivalentTo" . _:12aa9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000546"; "MONDO:equivalentTo", "Orphanet-shared" . _:12aaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010666"; "MONDO:equivalentTo" . _:12aabd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32562; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E79.8"; "Attributed"@en . _:12aacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E79.8"; "NTBT (narrower term maps to a broader term)"@en . _:12aadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E79.8"; "ORDO:976/attributed", "ORDO:976/ntbt", "Orphanet:976" . _:12aaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C538228"; "DOID:0060350", "MONDO:equivalentTo", "MONDO:ontobio" . _:12aafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C121564"; "DOID:0060350", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:12ab0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614723"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ab1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614723"; "DOID:0060350", "MONDO:equivalentTo", "ORDO:976/e", "Orphanet:976" . _:12ab2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:124274002"; "DOID:0060350", "MONDO:equivalentTo" . _:12ab3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268120"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ab4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0268120"; "DOID:0060350", "GARD:0010666", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C121564", "Orphanet:976" . _:12ab5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3665382"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ab6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "2,8-dihydroxyadenine urolithiasis"; "DOID:0060350", "Orphanet:976" . _:12ab7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "2,8-dihydroxyadeninuria disease"; "MONDO:cjm", "PMID:23064195" . _:12ab8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APRT deficiency"; "DOID:0060350", "GARD:0010666", "OMIM:614723", "Orphanet:976" . _:12ab9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenine phosphoribosyltransferase deficiency"; "MONDO:Lexical", "OMIM:614723" . _:12abad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenine phosphoribosyltransferase deficiency"; rdfs:comment "preferred label from MONDO" . _:12abbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APRTD"; "MONDO:Lexical", "OMIM:614723" . _:12abcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dihydroxyadeninuria"; "GARD:0010666" . _:12abdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenine phosphoribosyltransferase deficiency; APRTD"; "OMIM:614723" . _:12abed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nephrolithiasis, Dha"; "OMIM:614723" . _:12abfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urolithiasis, 2,8-dihydroxyadenine"; "OMIM:614723" . _:12ac0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "urolithiasis, Dha"; "OMIM:614723" . _:12ac1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:976" . _:12ac2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria"^^xsd:anyURI; "GARD:0010666" . a owl:Class; rdfs:subClassOf , ; "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth."; , , , ; "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth."@en; "orphanet", "orphanet"@en; "GARD:0012734", "ICD-10:E03.1", "ICD10:E03.1", "MONDO:0019995", "OMIM:609893", "OMIM:614450", "SCTID:718193005", "UMLS:C4273673", "UMLS:CN206931"; "peripheral resistance to thyroid hormones"; "Orphanet:97927"; , ; rdfs:label "Peripheral resistance to thyroid hormones", "Peripheral resistance to thyroid hormones"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones"^^xsd:anyURI; "ORPHA:97927" . _:12ac3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth."; "Orphanet:97927" . _:12ac4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0012734"; "MONDO:equivalentTo" . _:12ac5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32589; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32589 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.1"; "Attributed"@en . _:12ac6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E03.1"; "NTBT (narrower term maps to a broader term)"@en . _:12ac7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E03.1"; "ORDO:97927/attributed", "ORDO:97927/ntbt", "Orphanet:97927" . _:12ac8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:609893"; "BTNT (broader term maps to a narrower term)"@en . _:12ac9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614450"; "BTNT (broader term maps to a narrower term)"@en . _:12acad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:718193005"; "MONDO:equivalentTo" . _:12acbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C4273673"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo" . _:12accd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206931"; "MEDGEN:kboom-pr95-c96", "MONDO:equivalentTo" . _:12acdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "peripheral resistance to thyroid hormones"; rdfs:comment "preferred label from MONDO" . _:12aced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0012734" . _:12acfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97927" . _:12ad0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones"^^xsd:anyURI; "GARD:0012734" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare cardiac disease"@en; "ORPHA:97929" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare gastroenterologic disease"@en; "ORPHA:97935" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0019998"; "gastroduodenal malformation"; "Orphanet:97944"; ; rdfs:label "Gastroduodenal malformation" . _:12ad1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gastroduodenal malformation"; rdfs:comment "preferred label from MONDO" . _:12ad2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97944" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q43", "MONDO:0019999"; "intestinal malformation"; "Orphanet:97945"; ; rdfs:label "Intestinal malformation" . _:12ad3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "intestinal malformation"; rdfs:comment "preferred label from MONDO" . _:12ad4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:97945" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare respiratory disease"@en; "ORPHA:97955" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare surgical thoracic disease"@en; "ORPHA:97962" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare surgical cardiac disease"@en; "ORPHA:97965" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare ophthalmic disorder"@en; "ORPHA:97966" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare endocrine disease"@en; "ORPHA:97978" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare hematologic disease"@en; "ORPHA:97992" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare immune disease"@en; "ORPHA:98004" . a owl:Class; rdfs:subClassOf ; "Rare nervous system disease"@en; rdfs:label "Rare neurologic disease"@en; "ORPHA:98006" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare systemic or rheumatologic disease"@en; "ORPHA:98023" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare odontologic disease"@en; "ORPHA:98026" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare circulatory system disease"@en; "ORPHA:98028" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare neurologic disease with psychiatric involvement"@en; "ORPHA:98033" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare otorhinolaryngologic disease"@en; "ORPHA:98036" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Digestive tract malformation"@en; "ORPHA:98039" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Central nervous system malformation"@en; "ORPHA:98044" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare infertility"@en; "ORPHA:98047" . a owl:Class; rdfs:subClassOf ; "UMLS:C0021364"; rdfs:label "Rare male infertility"@en; "ORPHA:98048" . _:12ad5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0021364"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare female infertility"@en; "ORPHA:98049" . a owl:Class; rdfs:subClassOf ; "Rare allergy"@en; rdfs:label "Rare allergic disease"@en; "ORPHA:98050" . a owl:Class; rdfs:subClassOf ; "Rare respiratory allergy"@en; "UMLS:C1504369"; rdfs:label "Rare allergic respiratory disease"@en; "ORPHA:98052" . _:12ad6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1504369"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare genetic disease"@en; "ORPHA:98053" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "Rare genetic cardiac disease", "Rare genetic cardiac disease"@en; "ORPHA:98054" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Rare genetic renal disease", "Rare genetic renal disease"@en; "ORPHA:98056" . a owl:Class; rdfs:subClassOf ; "Rare neoplasm"@en; "UMLS:C0375111"; rdfs:label "Rare tumor"@en; "ORPHA:98057" . _:12ad7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0375111"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Rare digestive cancer"@en, "Rare digestive neoplasm"@en; "UMLS:C0012243", "UMLS:C0017185", "UMLS:C0685938"; rdfs:label "Rare digestive tumor"@en; "ORPHA:98059" . _:12ad8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0012243"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ad9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017185"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12adad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0685938"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Rare respiratory cancer"@en, "Rare respiratory neoplasm"@en; "UMLS:C0035244", "UMLS:C0154131"; rdfs:label "Rare respiratory tumor"@en; "ORPHA:98060" . _:12adbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0035244"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12adcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154131"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Rare ORL cancer"@en, "Rare ORL neoplasm"@en, "Rare ORL tumor"@en; rdfs:label "Rare otorhinolaryngologic tumor"@en; "ORPHA:98061" . a owl:Class; rdfs:subClassOf , ; "Rare nervous system neoplasm"@en; "UMLS:C0027766"; rdfs:label "Rare nervous system tumor"@en; "ORPHA:98062" . _:12addd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027766"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Rare gynaecological cancer"@en, "Rare gynaecological neoplasm"@en; "UMLS:C0017416", "UMLS:C0699889"; rdfs:label "Rare gynecological tumor"@en; "ORPHA:98063" . _:12aded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0017416"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12adfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0699889"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020038"; "gonadal dysgenesis of gynecological interest"; "Orphanet:98074"; ; rdfs:label "Gonadal dysgenesis of gynecological interest" . _:12ae0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonadal dysgenesis of gynecological interest"; rdfs:comment "preferred label from MONDO" . _:12ae1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98074" . a owl:Class; rdfs:subClassOf , ; "46,XX DSD induced by androgens excess"@en; rdfs:label "46,XX disorder of sex development induced by androgens excess"@en; "ORPHA:98078" . a owl:Class; rdfs:subClassOf ; "46,XY DSD"@en; "MeSH:D058490", "UMLS:C2751824"; rdfs:label "46,XY disorder of sex development"@en; "ORPHA:98085" . _:12ae2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D058490"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ae3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2751824"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0020041", "UMLS:CN227739"; "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue"; "Orphanet:98086"; ; rdfs:label "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue" . _:12ae4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227739"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12ae5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue"; rdfs:comment "preferred label from MONDO" . _:12ae6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98086" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020042", "UMLS:CN206965"; "Syndrome with 46,XY DSD", "syndrome with 46,XY DSD", "syndrome with 46,XY disorder of sex development"; "Orphanet:98087"; ; rdfs:label "Syndrome with 46,XY disorder of sex development" . _:12ae7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206965"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12ae8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with 46,XY DSD"; "Orphanet:98087" . _:12ae9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with 46,XY disorder of sex development"; rdfs:comment "preferred label from MONDO" . _:12aead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98087" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020043"; "autosomal recessive congenital cerebellar ataxia"; "Orphanet:98095"; ; rdfs:label "Autosomal recessive congenital cerebellar ataxia" . _:12aebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive congenital cerebellar ataxia"; rdfs:comment "preferred label from MONDO" . _:12aecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98095" . a owl:Class; rdfs:subClassOf , , , ; , ; "ICD10:G11.3", "MONDO:0020045", "UMLS:CN227741"; "autosomal recessive cerebellar ataxia due to a DNA repair defect"; "Orphanet:98097"; ; rdfs:label "Autosomal recessive cerebellar ataxia due to a DNA repair defect" . _:12aedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11.3"; "ORDO:98097/e", "ORDO:98097/specific", "Orphanet:98097" . _:12aeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227741"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12aefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive cerebellar ataxia due to a DNA repair defect"; rdfs:comment "preferred label from MONDO" . _:12af0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98097" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020046", "UMLS:CN229259"; "autosomal recessive degenerative and progressive cerebellar ataxia"; "Orphanet:98098"; ; rdfs:label "Autosomal recessive degenerative and progressive cerebellar ataxia" . _:12af1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN229259"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12af2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal recessive degenerative and progressive cerebellar ataxia"; rdfs:comment "preferred label from MONDO" . _:12af3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98098" . a owl:Class; rdfs:subClassOf ; "A chromosomal anomaly that involves an autosome."; , ; "MONDO:0020049", "UMLS:CN227743"; "autosomal anomaly", "autosome chromosomal anomaly", "chromosomal anomaly of autosome"; "Orphanet:98127"; ; rdfs:label "Autosomal anomaly" . _:12af4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A chromosomal anomaly that involves an autosome."; "MONDO:patterns/location" . _:12af5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227743"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12af6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal anomaly"; rdfs:comment "preferred label from MONDO" . _:12af7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosome chromosomal anomaly"; "MONDO:design_pattern", "MONDO:patterns/location" . _:12af8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosomal anomaly of autosome"; "MONDO:design_pattern" . _:12af9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98127" . a owl:Class; rdfs:subClassOf ; "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number."; ; , , , ; "GARD:0006065", "ICD9:758.5", "MONDO:0020050", "NCIT:C3421", "SCTID:429442006", "UMLS:C1996945"; "Autosomal duplication", "autosomal duplication", "autosomal trisomy", "trisomy"; "chromosomal triplication"; "Orphanet:98130"; ; rdfs:label "Autosomal trisomy" . _:12afad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number."; "NCIT:C3421" . _:12afbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006065"; "MONDO:equivalentTo", "shared-umls-xref" . _:12afcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.5"; "MONDO:relatedTo", "i2s" . _:12afdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3421"; "MONDO:equivalentTo" . _:12afed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:429442006"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/14.81" . _:12affd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1996945"; "MEDGEN:kboom-pr97-c98", "MONDO:equivalentTo" . _:12b00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal duplication"; "Orphanet:98130" . _:12b01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal trisomy"; rdfs:comment "preferred label from MONDO" . _:12b02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "trisomy"; "NCIT:C3421" . _:12b03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosomal triplication"; "GARD:0006065" . _:12b04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98130" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020051"; "total autosomal trisomy"; "Orphanet:98131"; ; rdfs:label "Total autosomal trisomy" . _:12b05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "total autosomal trisomy"; rdfs:comment "preferred label from MONDO" . _:12b06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98131" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020052"; "partial autosomal trisomy/tetrasomy"; "Orphanet:98132"; ; rdfs:label "Partial autosomal trisomy/tetrasomy" . _:12b07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial autosomal trisomy/tetrasomy"; rdfs:comment "preferred label from MONDO" . _:12b08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98132" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q93.3", "ICD10:Q93.4", "ICD10:Q93.5", "MONDO:0020054"; "Partial autosomal deletion", "partial autosomal deletion", "partial autosomal monosomy"; "Orphanet:98142"; ; rdfs:label "Partial autosomal monosomy" . _:12b09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.3"; "MONDO:relatedTo", "ORDO:98142/btnt", "ORDO:98142/specific", "Orphanet:98142" . _:12b0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.4"; "ORDO:98142/btnt", "ORDO:98142/specific", "Orphanet:98142" . _:12b0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q93.5"; "ORDO:98142/btnt", "ORDO:98142/specific", "Orphanet:98142" . _:12b0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial autosomal deletion"; "Orphanet:98142" . _:12b0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "partial autosomal monosomy"; rdfs:comment "preferred label from MONDO" . _:12b0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98142" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:Q99.8", "MONDO:0020055", "UMLS:CN229262"; "autosomal uniparental disomy"; "Orphanet:98152"; ; rdfs:label "Autosomal uniparental disomy" . _:12b0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.8"; "ORDO:98152/attributed", "ORDO:98152/ntbt", "Orphanet:98152" . _:12b10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN229262"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12b11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal uniparental disomy"; rdfs:comment "preferred label from MONDO" . _:12b12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98152" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:Q99.8", "MONDO:0020056", "SCTID:726401004"; "uniparental disomy of maternal origin"; "Orphanet:98153"; ; rdfs:label "Uniparental disomy of maternal origin" . _:12b13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.8"; "ORDO:98153/attributed", "ORDO:98153/ntbt", "Orphanet:98153" . _:12b14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:726401004"; "MONDO:equivalentTo" . _:12b15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uniparental disomy of maternal origin"; rdfs:comment "preferred label from MONDO" . _:12b16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98153" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:Q99.8", "MONDO:0020057", "SCTID:726402006"; "uniparental disomy of paternal origin"; "Orphanet:98154"; ; rdfs:label "Uniparental disomy of paternal origin" . _:12b17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.8"; "ORDO:98154/attributed", "ORDO:98154/ntbt", "Orphanet:98154" . _:12b18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:726402006"; "MONDO:equivalentTo" . _:12b19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uniparental disomy of paternal origin"; rdfs:comment "preferred label from MONDO" . _:12b1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98154" . a owl:Class; rdfs:subClassOf ; , ; , ; "COHD:441398", "ICD9:758.8", "ICD9:758.81", "MONDO:0020058", "SCTID:95462004"; "Sex-chromosome anomaly", "gonosome anomaly"; "Orphanet:98155"; ; rdfs:label "Gonosome anomaly" . _:12b1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:441398"; "MONDO:equivalentTo" . _:12b1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.8"; "MONDO:relatedTo", "i2s" . _:12b1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:758.81"; "MONDO:relatedTo", "i2s" . _:12b1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:95462004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.75" . _:12b1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sex-chromosome anomaly"; "Orphanet:98155" . _:12b20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonosome anomaly"; rdfs:comment "preferred label from MONDO" . _:12b21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98155" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020059"; "Sex-chromosome number anomaly", "gonosome number anomaly"; "Orphanet:98156"; ; rdfs:label "Gonosome number anomaly" . _:12b22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sex-chromosome number anomaly"; "Orphanet:98156" . _:12b23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonosome number anomaly"; rdfs:comment "preferred label from MONDO" . _:12b24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98156" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020060"; "Sex-chromosome structural anomaly", "gonosome structural anomaly"; "Orphanet:98157"; ; rdfs:label "Gonosome structural anomaly" . _:12b25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sex-chromosome structural anomaly"; "Orphanet:98157" . _:12b26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gonosome structural anomaly"; rdfs:comment "preferred label from MONDO" . _:12b27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98157" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q99.8", "MONDO:0020062"; "chromosome X structural anomaly"; "Orphanet:98159"; ; rdfs:label "Chromosome X structural anomaly" . _:12b28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q99.8"; "ORDO:98159/attributed", "ORDO:98159/ntbt", "Orphanet:98159" . _:12b29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome X structural anomaly"; rdfs:comment "preferred label from MONDO" . _:12b2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98159" . a owl:Class; rdfs:subClassOf , , ; , ; "Dysmorphologic diseases with phakomatosis"@en; "MONDO:0020063", "UMLS:CN206967"; "Dysmorphologic diseases with phakomatosis", "malformation syndrome with hamartosis"; "Orphanet:98196"; ; rdfs:label "Malformation syndrome with hamartosis", "Malformation syndrome with hamartosis"@en; "ORPHA:98196" . _:12b2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206967"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12b2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dysmorphologic diseases with phakomatosis"; "Orphanet:98196" . _:12b2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malformation syndrome with hamartosis"; rdfs:comment "preferred label from MONDO" . _:12b2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98196" . a owl:Class; rdfs:subClassOf , ; "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)."; , ; "Dystonia-plus syndrome"@en; "ICD-10:G24.1", "ICD10:G24.1", "MONDO:0020065", "UMLS:CN206969"; "Dystonia-plus syndrome", "combined dystonia", "dystonia-plus syndrome"; "Orphanet:98203"; ; rdfs:label "Combined dystonia", "Combined dystonia"@en; "ORPHA:98203" . _:12b2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)."; "https://www.ncbi.nlm.nih.gov/books/NBK1155/" . _:12b30d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32697; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32697 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "Attributed"@en . _:12b31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G24.1"; "NTBT (narrower term maps to a broader term)"@en . _:12b32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G24.1"; "ORDO:98203/attributed", "ORDO:98203/ntbt", "Orphanet:98203" . _:12b33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206969"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12b34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "combined dystonia"; rdfs:comment "preferred label from MONDO" . _:12b35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dystonia-plus syndrome"; "Orphanet:98203" . _:12b36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98203" . a owl:Class; rdfs:subClassOf , , , , , , ; "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility."; , , , ; , , , , , , ; "Cutis hyperelastica"; "COHD:79145", "DOID:13359", "GARD:0006322", "ICD-10:Q79.6", "ICD10:Q79.6", "ICD9:756.83", "MESH:D004535", "MONDO:0020066", "MSH:D004535", "MeSH:D004535", "MedDRA:10014316", "NCIT:C34568", "OMIMPS:130000", "SCTID:398114001", "UMLS:C0013720"; "EDS", "Ehlers-Danlos syndrome", "elastic skin"; "ED syndrome", "Ehlers Danlos syndrome", "Ehlers-Danlos syndromes"; "Orphanet:98249"; , ; rdfs:label "Ehlers-Danlos syndrome", "Ehlers-Danlos syndrome"@en; "ORPHA:98249" . _:12b37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility."; "PMID:28306229" . _:12b38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cutis hyperelastica"; "DOID:13359", "SCTID:238848002" . _:12b39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:79145"; "MONDO:equivalentTo" . _:12b3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13359"; "MONDO:equivalentTo" . _:12b3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006322"; "MONDO:equivalentTo" . _:12b3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.6"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b3dd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32711; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32711 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q79.6"; "Specific code (The term has its own code in the ICD10)"@en . _:12b3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q79.6"; "DOID:13359", "MONDO:equivalentTo", "ORDO:98249/e", "ORDO:98249/specific", "Orphanet:98249" . _:12b3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:756.83"; "DOID:13359", "MONDO:equivalentTo", "i2s" . _:12b40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D004535"; "DOID:13359", "MONDO:equivalentTo", "ORDO:98249/e", "Orphanet:98249" . _:12b41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D004535"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10014316"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10014316"; "ORDO:98249/e", "Orphanet:98249" . _:12b44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C34568"; "DOID:13359", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:12b45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:130000"; "MONDO:equivalentTo" . _:12b46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:398114001"; "DOID:13359", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12b47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013720"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013720"; "DOID:13359", "MONDO:equivalentTo", "NCIT:C34568", "ORDO:98249/e", "Orphanet:98249" . _:12b49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDS"; "GARD:0006322", "PMID:28306229" . _:12b4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndrome"; rdfs:comment "preferred label from MONDO" . _:12b4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "elastic skin"; "CSP2005:1849-3115", "DOID:13359" . _:12b4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ED syndrome"; "GARD:0006322" . _:12b4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers Danlos syndrome"; "GARD:0006322" . _:12b4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ehlers-Danlos syndromes"; "GARD:0006322" . _:12b4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98249" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:G40.4", "MONDO:0020070", "UMLS:CN206974"; "neonatal epilepsy syndrome"; "Orphanet:98257"; ; rdfs:label "Neonatal epilepsy syndrome" . _:12b50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.4"; "ORDO:98257/attributed", "ORDO:98257/ntbt", "Orphanet:98257" . _:12b51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206974"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12b52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neonatal epilepsy syndrome"; rdfs:comment "preferred label from MONDO" . _:12b53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98257" . a owl:Class; rdfs:subClassOf ; "A epilepsy syndrome that occurs between 28 days to one year of life.."; , ; "ICD10:G40.4", "MONDO:0020071", "UMLS:CN206975"; "epilepsy syndrome of infancy", "infantile epilepsy syndrome", "infantile onset epilepsy syndrome"; "Orphanet:98258"; ; rdfs:label "Infantile epilepsy syndrome" . _:12b54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A epilepsy syndrome that occurs between 28 days to one year of life.."; "MONDO:design_pattern" . _:12b55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.4"; "ORDO:98258/attributed", "ORDO:98258/ntbt", "Orphanet:98258" . _:12b56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206975"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12b57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epilepsy syndrome of infancy"; "MONDO:design_pattern", "MONDO:patterns/infantile" . _:12b58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile epilepsy syndrome"; rdfs:comment "preferred label from MONDO" . _:12b59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile onset epilepsy syndrome"; "MONDO:design_pattern", "MONDO:patterns/infantile" . _:12b5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98258" . a owl:Class; rdfs:subClassOf ; "A epilepsy syndrome that occurs during childhood."; , ; "ICD10:G40.4", "MONDO:0020072", "UMLS:CN206976"; "childhood epilepsy syndrome", "childhood-onset epilepsy syndrome", "epilepsy syndrome of childhood", "pediatric epilepsy syndrome"; "pediatric epilepsy syndrome"; "Orphanet:98259"; ; rdfs:label "Childhood-onset epilepsy syndrome" . _:12b5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A epilepsy syndrome that occurs during childhood."; "MONDO:design_pattern" . _:12b5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.4"; "ORDO:98259/attributed", "ORDO:98259/ntbt", "Orphanet:98259" . _:12b5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206976"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12b5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "childhood epilepsy syndrome"; "MONDO:design_pattern" . _:12b5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "childhood-onset epilepsy syndrome"; rdfs:comment "preferred label from MONDO" . _:12b60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epilepsy syndrome of childhood"; "MONDO:design_pattern", "MONDO:patterns/childhood" . _:12b61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric epilepsy syndrome"; "MONDO:design_pattern", "MONDO:patterns/childhood" . _:12b62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pediatric epilepsy syndrome"; "MONDO:patterns/childhood" . _:12b63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98259" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:G40.4", "MONDO:0020073", "UMLS:CN206977"; "adolescent-onset epilepsy syndrome"; "Orphanet:98260"; ; rdfs:label "Adolescent-onset epilepsy syndrome" . _:12b64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G40.4"; "ORDO:98260/attributed", "ORDO:98260/ntbt", "Orphanet:98260" . _:12b65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206977"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12b66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adolescent-onset epilepsy syndrome"; rdfs:comment "preferred label from MONDO" . _:12b67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98260" . a owl:Class; rdfs:subClassOf , ; ; "Monogenic obesity due to a leptin-melanocortin pathway anomaly"@en; "MONDO:0020075"; "Monogenic obesity due to a leptin-melanocortin pathway anomaly", "genetic isolated obesity", "genetic non-syndromic obesity", "monogenic isolated obesity"; "monogenic obesity due to a leptin-melanocortin pathway anomaly"; "Orphanet:98267"; ; rdfs:label "Genetic non-syndromic obesity", "Genetic non-syndromic obesity"@en; "ORPHA:98267" . _:12b68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic non-syndromic obesity"; "Orphanet:98267" . _:12b69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic non-syndromic obesity"; rdfs:comment "preferred label from MONDO" . _:12b6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monogenic obesity due to a leptin-melanocortin pathway anomaly"; "Orphanet:98267" . _:12b6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98267" . a owl:Class; rdfs:subClassOf ; "MPD"@en, "MPN"@en, "Myeloproliferative disorder"@en; "MeSH:D009196", "MedDRA:10028576", "UMLS:C0027022", "UMLS:C1292778"; rdfs:label "Myeloproliferative neoplasm"@en; "ORPHA:98274" . _:12b6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009196"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028576"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0027022"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1292778"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Histiocytic and dendritic cell tumor"@en; "ORPHA:98287" . a owl:Class; rdfs:subClassOf ; "ICD-10:C96.4"; rdfs:label "Dendritic cell tumor"@en; "ORPHA:98289" . _:12b70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.4"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "ICD-10:C96.2", "ICD-10:D47.0", "ICD-10:Q82.2", "MeSH:D008415", "MedDRA:10026891", "OMIM:154800", "UMLS:C0024899", "UMLS:C0334664"; rdfs:label "Mastocytosis"@en; "ORPHA:98292" . _:12b71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C96.2"; "BTNT (broader term maps to a narrower term)"@en . _:12b72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D47.0"; "BTNT (broader term maps to a narrower term)"@en . _:12b73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.2"; "BTNT (broader term maps to a narrower term)"@en . _:12b74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D008415"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10026891"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:154800"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0024899"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0334664"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development."; , , , , , , , ; "ETRS"@en, "Embryonic testicular regression syndrome"@en, "TRS"@en, "Vanishing testes syndrome"@en, "Vanishing testis syndrome"@en, "XY gonadal agenesis syndrome"@en; "Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development."@en; "orphanet", "orphanet"@en; "ICD-10:Q55.0", "ICD10:Q55.0", "ICD9:752.89", "MESH:C537770", "MONDO:0010107", "MSH:C537770", "MeSH:C537770", "MedDRA:10002641", "OMIM:273250", "SCTID:53599007", "UMLS:C0266427", "UMLS:C0405582", "UMLS:C1261504"; "ETRS", "Embryonic testicular regression syndrome", "TRS", "Vanishing testes syndrome", "Vanishing testis syndrome", "embryonic testicular regression syndrome", "testicular regression syndrome", "vanishing testes syndrome", "vanishing testis syndrome"; "XY gonadal agenesis syndrome", "anorchia, familial", "testicular regression syndrome; TRS", "testicular regression, embryonic"; "Orphanet:983"; ; rdfs:label "Testicular regression syndrome", "Testicular regression syndrome"@en; "ORPHA:983" . _:12b79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development."; "Orphanet:983" . _:12b7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q55.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b7bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32774; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32774 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q55.0"; "Specific code (The term has its own code in the ICD10)"@en . _:12b7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q55.0"; "ORDO:983/e", "ORDO:983/specific", "Orphanet:983" . _:12b7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:752.89"; "MONDO:relatedTo", "i2s" . _:12b7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537770"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:983/e", "Orphanet:983" . _:12b7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537770"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002641"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002641"; "ORDO:983/e", "Orphanet:983" . _:12b82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:273250"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:273250"; "MONDO:equivalentTo", "ORDO:983/e", "Orphanet:983" . _:12b84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:53599007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12b85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266427"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0266427"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:273250", "ORDO:983/e", "Orphanet:983" . _:12b87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0405582"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1261504"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ETRS"; "Orphanet:983" . _:12b8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRS"; "MONDO:Lexical", "OMIM:273250", "Orphanet:983" . _:12b8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "embryonic testicular regression syndrome"; "Orphanet:983" . _:12b8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "testicular regression syndrome"; "MONDO:Lexical", "OMIM:273250" . _:12b8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "testicular regression syndrome"; rdfs:comment "preferred label from MONDO" . _:12b8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vanishing testes syndrome"; "Orphanet:983" . _:12b8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vanishing testis syndrome"; "Orphanet:983" . _:12b90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "XY gonadal agenesis syndrome"; "OMIM:273250" . _:12b91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anorchia, familial"; "OMIM:273250" . _:12b92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "testicular regression syndrome; TRS"; "OMIM:273250" . _:12b93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "testicular regression, embryonic"; "OMIM:273250" . _:12b94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:983" . a owl:Class; rdfs:subClassOf ; "MeSH:D054988", "UMLS:C2350236"; rdfs:label "Idiopathic interstitial pneumonia"@en; "ORPHA:98300" . _:12b95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D054988"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12b96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2350236"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "Laminopathy"@en; "ORPHA:98301" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020090"; "Male infertility due to testicular dysgenesis", "male infertility due to gonadal dysgenesis"; "Orphanet:98313"; ; rdfs:label "Male infertility due to gonadal dysgenesis" . _:12b97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male infertility due to testicular dysgenesis"; "Orphanet:98313" . _:12b98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "male infertility due to gonadal dysgenesis"; rdfs:comment "preferred label from MONDO" . _:12b99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98313" . a owl:Class; rdfs:subClassOf , ; "Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature."; , ; "Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature"@en; "ICD-10:Q82.8", "ICD10:Q82.8", "MONDO:0020094", "UMLS:CN206998"; "Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature", "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature", "autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature", "disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant"; "Orphanet:98352"; , ; rdfs:label "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature", "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI; "ORPHA:98352" . _:12b9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature."; "MONDO:patterns/autosomal_dominant" . _:12b9bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32807; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32807 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "Attributed"@en . _:12b9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q82.8"; "NTBT (narrower term maps to a broader term)"@en . _:12b9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q82.8"; "ORDO:98352/attributed", "ORDO:98352/ntbt", "Orphanet:98352" . _:12b9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN206998"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12b9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature"; "Orphanet:98352" . _:12ba0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature"; rdfs:comment "preferred label from MONDO" . _:12ba1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:12ba2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98352" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:D50.8", "MONDO:0020098", "UMLS:CN227778"; "constitutional anemia due to iron metabolism disorder"; "Orphanet:98360"; ; rdfs:label "Constitutional anemia due to iron metabolism disorder" . _:12ba3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D50.8"; "ORDO:98360/attributed", "ORDO:98360/ntbt", "Orphanet:98360" . _:12ba4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227778"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12ba5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional anemia due to iron metabolism disorder"; rdfs:comment "preferred label from MONDO" . _:12ba6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98360" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:D64.0", "MONDO:0020099"; "constitutional sideroblastic anemia"; "Orphanet:98362"; ; rdfs:label "Constitutional sideroblastic anemia" . _:12ba7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.0"; "ORDO:98362/e", "ORDO:98362/specific", "Orphanet:98362" . _:12ba8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional sideroblastic anemia"; rdfs:comment "preferred label from MONDO" . _:12ba9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98362" . a owl:Class; rdfs:subClassOf ; "UMLS:C0002878"; rdfs:label "Rare hemolytic anemia"@en; "ORPHA:98363" . _:12baad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002878"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; , ; "ICD10:D55.0", "ICD10:D55.1", "ICD10:D55.2", "ICD10:D55.3", "ICD10:D55.8", "ICD10:D55.9", "MONDO:0020104", "UMLS:CN227782"; "rare constitutional hemolytic anemia due to an enzyme disorder"; "Orphanet:98369"; , ; rdfs:comment "Editor note: consider merging with parent"; rdfs:label "Rare constitutional hemolytic anemia due to an enzyme disorder"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:12babd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55.0"; "ORDO:98369/btnt", "ORDO:98369/specific", "Orphanet:98369" . _:12bacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55.1"; "ORDO:98369/btnt", "ORDO:98369/specific", "Orphanet:98369" . _:12badd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55.2"; "ORDO:98369/btnt", "ORDO:98369/specific", "Orphanet:98369" . _:12baed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55.3"; "ORDO:98369/btnt", "ORDO:98369/specific", "Orphanet:98369" . _:12bafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55.8"; "ORDO:98369/btnt", "ORDO:98369/specific", "Orphanet:98369" . _:12bb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55.9"; "ORDO:98369/btnt", "ORDO:98369/specific", "Orphanet:98369" . _:12bb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227782"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12bb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare constitutional hemolytic anemia due to an enzyme disorder"; rdfs:comment "preferred label from MONDO" . _:12bb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98369" . a owl:Class; rdfs:subClassOf , , ; , ; "ICD10:D55.2", "MONDO:0020106", "UMLS:CN227783"; "hemolytic anemia due to a disorder of glycolytic enzymes"; "Orphanet:98372"; ; rdfs:label "Hemolytic anemia due to a disorder of glycolytic enzymes" . _:12bb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55.2"; "ORDO:98372/e", "ORDO:98372/specific", "Orphanet:98372" . _:12bb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227783"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12bb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemolytic anemia due to a disorder of glycolytic enzymes"; rdfs:comment "preferred label from MONDO" . _:12bb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98372" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:D55.3", "MONDO:0020107", "UMLS:CN227784"; "Hemolytic anemia due to an erythroenzymopathy", "hemolytic anemia due to an erythrocyte nucleotide metabolism disorder", "hemolytic anemia due to an erythroenzymopathy"; "Orphanet:98374"; ; rdfs:label "Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder" . _:12bb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D55.3"; "ORDO:98374/e", "ORDO:98374/specific", "Orphanet:98374" . _:12bb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227784"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12bbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemolytic anemia due to an erythrocyte nucleotide metabolism disorder"; rdfs:comment "preferred label from MONDO" . _:12bbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemolytic anemia due to an erythroenzymopathy"; "Orphanet:98374" . _:12bbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98374" . a owl:Class; rdfs:subClassOf ; "AHA"@en, "AIHA"@en; "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia."@en; "orphanet"@en; "ICD-10:D59.0", "ICD-10:D59.1", "MeSH:D000744", "MedDRA:10002046", "UMLS:C0002880"; rdfs:label "Autoimmune hemolytic anemia"@en; "ORPHA:98375" . _:12bbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.0"; "NTBT (narrower term maps to a broader term)"@en . _:12bbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D59.1"; "NTBT (narrower term maps to a broader term)"@en . _:12bbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D000744"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12bc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10002046"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12bc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0002880"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; , ; "ICD10:D51.0", "ICD10:D51.1", "ICD10:D51.2", "ICD10:D51.3", "ICD10:D51.8", "ICD10:D51.9", "MONDO:0020109", "UMLS:CN227785"; "constitutional megaloblastic anemia due to vitamin B12 metabolism disorder"; "Orphanet:98396"; ; rdfs:label "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" . _:12bc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D51.0"; "ORDO:98396/btnt", "ORDO:98396/specific", "Orphanet:98396" . _:12bc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D51.1"; "ORDO:98396/btnt", "ORDO:98396/specific", "Orphanet:98396" . _:12bc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D51.2"; "MONDO:superClassOf", "ORDO:98396/btnt", "ORDO:98396/specific", "Orphanet:98396" . _:12bc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D51.3"; "ORDO:98396/btnt", "ORDO:98396/specific", "Orphanet:98396" . _:12bc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D51.8"; "ORDO:98396/btnt", "ORDO:98396/specific", "Orphanet:98396" . _:12bc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D51.9"; "ORDO:98396/btnt", "ORDO:98396/specific", "Orphanet:98396" . _:12bc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227785"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12bc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional megaloblastic anemia due to vitamin B12 metabolism disorder"; rdfs:comment "preferred label from MONDO" . _:12bcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98396" . a owl:Class; rdfs:subClassOf , , , ; , ; "ICD10:D52.8", "MONDO:0020111", "UMLS:CN227786"; "constitutional megaloblastic anemia due to folate metabolism disorder"; "Orphanet:98408"; ; rdfs:label "Constitutional megaloblastic anemia due to folate metabolism disorder" . _:12bcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D52.8"; "ORDO:98408/attributed", "ORDO:98408/ntbt", "Orphanet:98408" . _:12bccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227786"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12bcdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "constitutional megaloblastic anemia due to folate metabolism disorder"; rdfs:comment "preferred label from MONDO" . _:12bced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98408" . a owl:Class; rdfs:subClassOf , ; ; "ICD10:D53.0", "ICD10:D53.1", "ICD10:D53.2", "ICD10:D53.8", "ICD10:D53.9", "MONDO:0020112"; "vitamin B12- and folate-independent constitutional megaloblastic anemia"; "Orphanet:98415"; ; rdfs:label "Vitamin B12- and folate-independent constitutional megaloblastic anemia" . _:12bcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D53.0"; "MONDO:relatedTo", "ORDO:98415/inclusion", "ORDO:98415/ntbt", "Orphanet:98415" . _:12bd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D53.1"; "ORDO:98415/inclusion", "ORDO:98415/ntbt", "Orphanet:98415" . _:12bd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D53.2"; "ORDO:98415/inclusion", "ORDO:98415/ntbt", "Orphanet:98415" . _:12bd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D53.8"; "ORDO:98415/inclusion", "ORDO:98415/ntbt", "Orphanet:98415" . _:12bd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D53.9"; "ORDO:98415/inclusion", "ORDO:98415/ntbt", "Orphanet:98415" . _:12bd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "vitamin B12- and folate-independent constitutional megaloblastic anemia"; rdfs:comment "preferred label from MONDO" . _:12bd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98415" . a owl:Class; rdfs:subClassOf ; "UMLS:C0005779"; rdfs:label "Rare coagulation disorder"@en; "ORPHA:98429" . _:12bd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0005779"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "OMIM:185050"; "SPD"; rdfs:label "Platelet storage pool disease" . a owl:Class; rdfs:subClassOf , ; , ; "ICD10:D69.1", "MONDO:0020118", "UMLS:CN207010"; "Delta granule disease", "dense granule disease"; "Orphanet:98456"; ; rdfs:label "Dense granule disease" . _:12bd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D69.1"; "ORDO:98456/attributed", "ORDO:98456/ntbt", "Orphanet:98456" . _:12bd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207010"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12bd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Delta granule disease"; "Orphanet:98456" . _:12bdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dense granule disease"; rdfs:comment "preferred label from MONDO" . _:12bdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98456" . a owl:Class; rdfs:subClassOf , , ; "A syndromic intellectual disability with an X-linked mode of inheritance."; , ; "DOID:0060309", "MONDO:0020119", "OMIM:300260", "OMIM:300659", "OMIM:300966", "OMIM:300967", "OMIM:300968", "OMIM:300986", "OMIM:300987", "OMIM:300998", "OMIMPS:309510"; "X-linked syndromic intellectual disability", "mental retardation, X-linked syndromic", "syndromic X-linked intellectual disability", "syndromic X-linked mental retardation", "syndromic intellectual disability, X-linked"; "Orphanet:98464"; ; rdfs:label "X-linked syndromic intellectual disability" . _:12bdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A syndromic intellectual disability with an X-linked mode of inheritance."; "MONDO:DesignPattern" . _:12bddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060309"; "MONDO:equivalentTo" . _:12bded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300260"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12bdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300966"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12be0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300967"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12be1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300968"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12be2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300986"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12be3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300987"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12be4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300998"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12be5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:309510"; "DOID:0060309", "MONDO:equivalentTo" . _:12be6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "X-linked syndromic intellectual disability"; rdfs:comment "preferred label from MONDO" . _:12be7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mental retardation, X-linked syndromic"; "OMIMPS:309510" . _:12be8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic X-linked intellectual disability"; "MONDO:0000738" . _:12be9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic X-linked mental retardation"; "DOID:0060309" . _:12bead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic intellectual disability, X-linked"; "MONDO:patterns/x_linked" . _:12bebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98464" . a owl:Class; rdfs:subClassOf ; "MeSH:D009135", "MedDRA:10028641", "UMLS:C1533847"; rdfs:label "Skeletal muscle disease"@en; "ORPHA:98472" . _:12becd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009135"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12bedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028641"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12beed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1533847"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids , anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities."; , , , , , ; , , , , , , ; "COHD:4247802", "DOID:9884", "GARD:0007922", "ICD-10:G71.0", "ICD10:G71.0", "ICD9:359.1", "MESH:D009136", "MONDO:0020121", "MSH:D009136", "MeSH:D009136", "MedDRA:10028356", "NCIT:C84910", "SCTID:73297009", "UMLS:C0026850"; "muscular dystrophy"; "Orphanet:98473"; , ; rdfs:label "Muscular dystrophy", "Muscular dystrophy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy"^^xsd:anyURI; "ORPHA:98473" . _:12befd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids , anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities."; "https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy" . _:12bf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHD:4247802"; "MONDO:equivalentTo" . _:12bf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9884"; "MONDO:equivalentTo" . _:12bf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0007922"; "MONDO:equivalentTo" . _:12bf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12bf4d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32897; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32897 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Specific code (The term has its own code in the ICD10)"@en . _:12bf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "DOID:9884", "MONDO:equivalentTo", "ORDO:98473/e", "ORDO:98473/specific", "Orphanet:98473" . _:12bf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.1"; "DOID:9884" . _:12bf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D009136"; "DOID:9884", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:98473/e", "Orphanet:98473" . _:12bf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D009136"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12bf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028356"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12bfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028356"; "ORDO:98473/e", "Orphanet:98473" . _:12bfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84910"; "DOID:9884", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:12bfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:73297009"; "DOID:9884", "MONDO:equivalentTo", "MONDO:kboom-pr-0.95/0.75/1.92" . _:12bfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026850"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12bfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0026850"; "DOID:9884", "MONDO:equivalentTo", "NCIT:C84910", "ORDO:98473/e", "Orphanet:98473" . _:12bffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:12c00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0007922" . _:12c01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98473" . _:12c02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy"^^xsd:anyURI; "GARD:0007922" . a owl:Class; rdfs:subClassOf , ; "IMM"@en, "Idiopathic inflammatory myositis"@en; "UMLS:C0751356"; rdfs:label "Idiopathic inflammatory myopathy"@en; "ORPHA:98482" . _:12c03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751356"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction."; , , , , ; "ICD9:359.89", "MONDO:0020123", "MedDRA:10068836", "NCIT:C98985", "SCTID:26111005", "UMLS:C0270984"; "metabolic myopathy"; "Orphanet:98486"; ; rdfs:label "Metabolic myopathy", "Metabolic myopathy"@en; "ORPHA:98486" . _:12c04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction."; "NCIT:C98985" . _:12c05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:359.89"; "MONDO:relatedTo", "i2s" . _:12c06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068836"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12c07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10068836"; "ORDO:98486/e", "Orphanet:98486" . _:12c08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C98985"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:12c09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:26111005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:12c0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0270984"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12c0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0270984"; "MONDO:equivalentTo", "NCIT:C98985", "ORDO:98486/e", "Orphanet:98486" . _:12c0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic myopathy"; rdfs:comment "preferred label from MONDO" . _:12c0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98486" . a owl:Class; rdfs:subClassOf , , , ; "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions."; , , , , ; "DOID:439", "ICD10:G70.0", "ICD10:G70.1", "ICD10:G70.2", "ICD10:G70.8", "ICD10:G70.9", "MESH:D020511", "Orphanet:98491", "SCTID:128213006", "UMLS:C0751950"; "neuromuscular junction disease"; "Orphanet:98495"; ; rdfs:label "Genetic neuromuscular junction disease" . _:12c0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions."; "MESH:D020511" . _:12c0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:439"; "MONDO:equivalentTo" . _:12c10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G70.0"; "MONDO:superClassOf", "ORDO:98491/ntbt", "Orphanet:98491" . _:12c11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G70.1"; "ORDO:98491/ntbt", "Orphanet:98491" . _:12c12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G70.2"; "ORDO:98491/ntbt", "Orphanet:98491" . _:12c13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G70.8"; "ORDO:98491/ntbt", "Orphanet:98491" . _:12c14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G70.9"; "ORDO:98491/ntbt", "Orphanet:98491" . _:12c15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020511"; "DOID:439", "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:98491/e", "Orphanet:98491" . _:12c16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Orphanet:98491"; "MONDO:equivalentTo" . _:12c17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:128213006"; "DOID:439", "MONDO:equivalentTo" . _:12c18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0751950"; "DOID:439", "MONDO:equivalentTo", "ORDO:98491/e", "Orphanet:98491" . _:12c19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neuromuscular junction disease"; rdfs:comment "preferred label from MONDO" . _:12c1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98491" . a owl:Class; rdfs:subClassOf ; "UMLS:C0031117"; rdfs:label "Rare peripheral neuropathy"@en; "ORPHA:98496" . _:12c1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0031117"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Genetic peripheral neuropathy."; ; "MONDO:0020127"; "genetic peripheral neuropathy"; "Orphanet:98497"; , ; rdfs:label "Genetic peripheral neuropathy", "Genetic peripheral neuropathy"@en; "ORPHA:98497" . _:12c1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic peripheral neuropathy"; "MONDO:patterns/genetic" . _:12c1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic peripheral neuropathy"; rdfs:comment "preferred label from MONDO" . _:12c1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98497" . a owl:Class; rdfs:subClassOf ; "Anterior horn cell disease"@en; "ICD-10:G12.2", "MeSH:D016472", "MedDRA:10028003", "UMLS:C0085084", "UMLS:C0154681"; rdfs:label "Motor neuron disease"@en; "ORPHA:98503" . _:12c1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G12.2"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12c20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D016472"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12c21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10028003"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12c22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0085084"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12c23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0154681"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , , ; "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome."; , , ; "MONDO:0024257", "SCTID:49793008", "UMLS:CN207018"; "Genetic anterior horn cell disease", "genetic anterior horn cell disease", "genetic motor neuron disease", "hereditary motor neuron disease"; "Orphanet:98505"; ; rdfs:label "Genetic motor neuron disease" . _:12c24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:12c25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:49793008"; "MONDO:equivalentTo" . _:12c26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207018"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12c27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic anterior horn cell disease"; "Orphanet:98505" . _:12c28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic motor neuron disease"; "MONDO:patterns/hereditary" . _:12c29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary motor neuron disease"; "MONDO:patterns/hereditary" . _:12c2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary motor neuron disease"; rdfs:comment "preferred label from MONDO" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Neurodegenerative disease with dementia"@en; "ORPHA:98534" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0020138"; "ataxia with dementia"; "Orphanet:98538"; ; rdfs:label "Ataxia with dementia", "Ataxia with dementia"@en; "ORPHA:98538" . _:12c2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ataxia with dementia"; rdfs:comment "preferred label from MONDO" . _:12c2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98538" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020139"; "early-onset ataxia with dementia"; "Orphanet:98539"; ; rdfs:label "Early-onset ataxia with dementia", "Early-onset ataxia with dementia"@en; "ORPHA:98539" . _:12c2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "early-onset ataxia with dementia"; rdfs:comment "preferred label from MONDO" . _:12c2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98539" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020140"; "late-onset ataxia with dementia"; "Orphanet:98540"; ; rdfs:label "Late-onset ataxia with dementia", "Late-onset ataxia with dementia"@en; "ORPHA:98540" . _:12c2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "late-onset ataxia with dementia"; rdfs:comment "preferred label from MONDO" . _:12c30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98540" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0020142", "UMLS:CN207023"; "metabolic disease with dementia"; "Orphanet:98543"; ; rdfs:label "Metabolic disease with dementia", "Metabolic disease with dementia"@en; "ORPHA:98543" . _:12c31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207023"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12c32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease with dementia"; rdfs:comment "preferred label from MONDO" . _:12c33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98543" . a owl:Class; rdfs:subClassOf ; rdfs:label "Developmental defect of the eye"@en; "ORPHA:98553" . a owl:Class; rdfs:subClassOf , ; ; "use http://www.orpha.net/ORDO/Orphanet_98553 with label: Developmental defect of the eye"@en; "MONDO:0020146"; "major induction processes eye anomaly"; "Orphanet:98554"; ; rdfs:label "Major induction processes eye anomaly", "OBSOLETE: Major induction processes eye anomaly"@en . _:12c34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "major induction processes eye anomaly"; rdfs:comment "preferred label from MONDO" . _:12c35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98554" . a owl:Class; rdfs:subClassOf , , ; "Anophthalmia-microphthalmia syndrome"@en; "ICD-10:Q11.0", "ICD-10:Q11.1", "ICD-10:Q11.2", "ICD10:Q11.0", "ICD10:Q11.1", "ICD10:Q11.2"; rdfs:label "Anophthalmia - microphthalmia", "Microphthalmia-anophthalmia-coloboma"@en; "ORPHA:98555" . _:12c36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.0"; "BTNT (broader term maps to a narrower term)"@en . _:12c37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.0"; "Specific code (The term has its own code in the ICD10)"@en . _:12c38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.1"; "BTNT (broader term maps to a narrower term)"@en . _:12c39d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid32967; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "BTNT (broader term maps to a narrower term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid32967 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.1"; "Specific code (The term has its own code in the ICD10)"@en . _:12c3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.2"; "BTNT (broader term maps to a narrower term)"@en . _:12c3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q11.2"; "Specific code (The term has its own code in the ICD10)"@en . a owl:Class; rdfs:subClassOf , , ; "A aniridia that is part of a larger syndrome."; , ; "MONDO:0020148", "UMLS:CN227798"; "syndrome associated with aniridia", "syndromic aniridia"; "syndrome associated with aniridia"; "Orphanet:98557"; ; rdfs:label "Syndromic aniridia" . _:12c3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A aniridia that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12c3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227798"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12c3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with aniridia"; "MONDO:patterns/syndromic" . _:12c3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic aniridia"; "MONDO:patterns/syndromic" . _:12c40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic aniridia"; rdfs:comment "preferred label from MONDO" . _:12c41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with aniridia"; "MONDO:patterns/syndromic" . _:12c42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98557" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020149", "UMLS:CN207024"; "rare eye disease due to a differentiation anomaly"; "Orphanet:98558"; , ; rdfs:label "Rare eye disease due to a differentiation anomaly"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:12c43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207024"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12c44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare eye disease due to a differentiation anomaly"; rdfs:comment "preferred label from MONDO" . _:12c45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98558" . a owl:Class; rdfs:subClassOf , , , ; "UMLS:C0015423"; rdfs:label "Rare palpebral disease", "Rare palpebral disorder"@en; "ORPHA:98560" . _:12c46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0015423"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020152"; "rare eyelid malformation"; "eyelid malformation"; "Orphanet:98561"; , ; rdfs:label "Eyelid malformation"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:12c47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare eyelid malformation"; rdfs:comment "preferred label from MONDO" . _:12c48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelid malformation"; "Orphanet:98561" . _:12c49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98561" . a owl:Class; rdfs:subClassOf ; "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure."; ; , , ; "GARD:0010505", "ICD9:743.06", "MONDO:0020153", "NCIT:C124520", "SCTID:400951005"; "cryptophthalmia", "cryptophthalmos"; "Orphanet:98562"; ; rdfs:label "Cryptophthalmia" . _:12c4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure."; "NCIT:C124520" . _:12c4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010505"; "MONDO:equivalentTo" . _:12c4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.06"; "MONDO:equivalentTo", "i2s" . _:12c4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C124520"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.86/15.87" . _:12c4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:400951005"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.74/6.17" . _:12c4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cryptophthalmia"; rdfs:comment "preferred label from MONDO" . _:12c50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cryptophthalmos"; "NCIT:C124520" . _:12c51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98562" . a owl:Class; rdfs:subClassOf ; , ; "Eyelids malposition disorder"@en; "MONDO:0020158", "UMLS:CN227803"; "eyelids malposition disorder"; "Orphanet:98567"; ; rdfs:label "Eyelids malposition disorder", "Rare eyelid malposition disorder"@en; "ORPHA:98567" . _:12c52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227803"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12c53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyelids malposition disorder"; rdfs:comment "preferred label from MONDO" . _:12c54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98567" . a owl:Class; rdfs:subClassOf , ; , , , ; "ICD10:Q10.2", "MONDO:0020159", "MedDRA:10014923", "SCTID:20392000", "UMLS:C0266579"; "congenital entropion"; "Orphanet:98568"; ; rdfs:label "Congenital entropion" . _:12c55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q10.2"; "MONDO:equivalentTo", "ORDO:98568/e", "ORDO:98568/specific", "Orphanet:98568" . _:12c56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10014923"; "ORDO:98568/e", "Orphanet:98568" . _:12c57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:20392000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.84/15.03" . _:12c58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital entropion"; rdfs:comment "preferred label from MONDO" . _:12c59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98568" . a owl:Class; rdfs:subClassOf ; ; "ICD10:H02.0", "MONDO:0020160"; "secondary entropion"; "Orphanet:98569"; ; rdfs:label "Secondary entropion" . _:12c5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H02.0"; "ORDO:98569/attributed", "ORDO:98569/ntbt", "Orphanet:98569" . _:12c5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary entropion"; rdfs:comment "preferred label from MONDO" . _:12c5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98569" . a owl:Class; rdfs:subClassOf , ; , , ; "ICD10:Q10.1", "MONDO:0020161", "SCTID:26590002", "UMLS:C0266578"; "congenital ectropion"; "Orphanet:98570"; ; rdfs:label "Congenital ectropion" . _:12c5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q10.1"; "MONDO:equivalentTo", "ORDO:98570/e", "ORDO:98570/specific", "Orphanet:98570" . _:12c5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:26590002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:12c5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital ectropion"; rdfs:comment "preferred label from MONDO" . _:12c60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98570" . a owl:Class; rdfs:subClassOf ; ; "ICD-10:H02.1", "ICD10:H02.1", "MONDO:0020162"; "secondary ectropion"; "Orphanet:98571"; ; rdfs:label "Secondary ectropion", "Secondary ectropion"@en; "ORPHA:98571" . _:12c61d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33008; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33008 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H02.1"; "Attributed"@en . _:12c62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:H02.1"; "NTBT (narrower term maps to a broader term)"@en . _:12c63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H02.1"; "ORDO:98571/attributed", "ORDO:98571/ntbt", "Orphanet:98571" . _:12c64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary ectropion"; rdfs:comment "preferred label from MONDO" . _:12c65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98571" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020163"; "canthal anomaly"; "Orphanet:98572"; ; rdfs:label "Canthal anomaly" . _:12c66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "canthal anomaly"; rdfs:comment "preferred label from MONDO" . _:12c67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98572" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q10.3", "MONDO:0020164"; "epicanthal fold"; "Orphanet:98573"; ; rdfs:label "Epicanthal fold" . _:12c68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q10.3"; "ORDO:98573/index", "ORDO:98573/ntbt", "Orphanet:98573" . _:12c69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "epicanthal fold"; rdfs:comment "preferred label from MONDO" . _:12c6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98573" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0020165", "UMLS:CN227805"; "syndromic epicanthus"; "Orphanet:98574"; ; rdfs:label "Syndromic epicanthus" . _:12c6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227805"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12c6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic epicanthus"; rdfs:comment "preferred label from MONDO" . _:12c6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98574" . a owl:Class; rdfs:subClassOf ; ; "ICD10:Q10.3", "MONDO:0020167"; "malposition of external canthus"; "Orphanet:98576"; ; rdfs:label "Malposition of external canthus" . _:12c6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q10.3"; "ORDO:98576/attributed", "ORDO:98576/ntbt", "Orphanet:98576" . _:12c6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malposition of external canthus"; rdfs:comment "preferred label from MONDO" . _:12c70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98576" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020168"; "kinetic eyelid anomaly"; "Orphanet:98577"; ; rdfs:label "Kinetic eyelid anomaly" . _:12c71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kinetic eyelid anomaly"; rdfs:comment "preferred label from MONDO" . _:12c72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98577" . a owl:Class; rdfs:subClassOf ; "MSH:D001763", "MedDRA:10015995", "MedDRA:10037272", "UMLS:C0005745", "UMLS:C0033377"; rdfs:label "Ptosis" . a owl:Class; rdfs:subClassOf ; rdfs:label "Palpebral tumor" . a owl:Class; rdfs:subClassOf , , , ; "A cancer that involves the skin of eyelid."; , , ; "MONDO:0020175", "SCTID:423425006", "UMLS:CN207035"; "cancer of skin of eyelid", "malignant neoplasm of skin of eyelid", "malignant skin of eyelid neoplasm", "malignant tumor of palpebral epidermis", "skin of eyelid cancer"; "Orphanet:98584"; ; rdfs:label "Malignant tumor of palpebral epidermis" . _:12c73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cancer that involves the skin of eyelid."; "MONDO:patterns/location" . _:12c74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:423425006"; "MONDO:equivalentTo" . _:12c75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207035"; "MONDO:equivalentTo" . _:12c76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cancer of skin of eyelid"; "MONDO:patterns/cancer" . _:12c77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant neoplasm of skin of eyelid"; "MONDO:patterns/cancer" . _:12c78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant skin of eyelid neoplasm"; "MONDO:patterns/cancer" . _:12c79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumor of palpebral epidermis"; rdfs:comment "preferred label from MONDO" . _:12c7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin of eyelid cancer"; "MONDO:patterns/location" . _:12c7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98584" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0020177", "UMLS:CN207037"; "pigmented eyelid tumor", "pigmented palpebral neoplasm", "pigmented palpebral tumor"; "Orphanet:98586"; ; rdfs:label "Pigmented palpebral tumor" . _:12c7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207037"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12c7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmented eyelid tumor"; "MONDO:patterns/location" . _:12c7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmented palpebral neoplasm"; "MONDO:patterns/location" . _:12c7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmented palpebral tumor"; rdfs:comment "preferred label from MONDO" . _:12c80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98586" . a owl:Class; rdfs:subClassOf , , ; "A lentigo that involves the skin of eyelid."; ; "MONDO:0020178"; "palpebral lentiginosis", "skin of eyelid lentigo"; "Orphanet:98587"; ; rdfs:label "Palpebral lentiginosis" . _:12c81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A lentigo that involves the skin of eyelid."; "MONDO:patterns/location" . _:12c82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "palpebral lentiginosis"; rdfs:comment "preferred label from MONDO" . _:12c83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "skin of eyelid lentigo"; "MONDO:patterns/location" . _:12c84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98587" . a owl:Class; rdfs:subClassOf ; "MedDRA:10063706", "UMLS:C0339116"; rdfs:label "Palpebral malignant melanoma" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0020181", "UMLS:CN207041"; "mesenchymatous palpebral tumor"; "Orphanet:98591"; ; rdfs:label "Mesenchymatous palpebral tumor" . _:12c85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207041"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12c86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mesenchymatous palpebral tumor"; rdfs:comment "preferred label from MONDO" . _:12c87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98591" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020184", "UMLS:CN227808"; "rare eyebrow/eyelashes anomaly"; "Orphanet:98594"; , ; rdfs:comment "Editor note: does not align with anatomy"; rdfs:label "Rare eyebrow/eyelashes anomaly"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:12c88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227808"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12c89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare eyebrow/eyelashes anomaly"; rdfs:comment "preferred label from MONDO" . _:12c8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98594" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020186"; "eyebrow hypertrophy"; "Orphanet:98596"; ; rdfs:label "Eyebrow hypertrophy" . _:12c8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyebrow hypertrophy"; rdfs:comment "preferred label from MONDO" . _:12c8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98596" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020189"; "eyebrow/eyelashes structural anomaly"; "Orphanet:98599"; ; rdfs:label "Eyebrow/eyelashes structural anomaly" . _:12c8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyebrow/eyelashes structural anomaly"; rdfs:comment "preferred label from MONDO" . _:12c8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98599" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020190"; "eyebrow/eyelashes distichiasis"; "Orphanet:98600"; ; rdfs:label "Eyebrow/eyelashes distichiasis" . _:12c8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyebrow/eyelashes distichiasis"; rdfs:comment "preferred label from MONDO" . _:12c90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98600" . a owl:Class; rdfs:subClassOf , , ; ; "MONDO:0020191"; "eyebrow/eyelashes pigmentation anomaly"; "Orphanet:98601"; ; rdfs:label "Eyebrow/eyelashes pigmentation anomaly" . _:12c91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eyebrow/eyelashes pigmentation anomaly"; rdfs:comment "preferred label from MONDO" . _:12c92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98601" . a owl:Class; rdfs:subClassOf , ; "ICD10:H06"; rdfs:label "Rare lacrimal system disease" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020193"; "disease of lacrimal gland", "lacrimal gland disease", "secretory apparatus of the lacrimal system anomaly"; "disorder of lacrimal gland"; "Orphanet:98603"; ; rdfs:label "Secretory apparatus of the lacrimal system anomaly" . _:12c93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease of lacrimal gland"; "MONDO:patterns/location_top" . _:12c94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lacrimal gland disease"; "MONDO:patterns/location" . _:12c95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secretory apparatus of the lacrimal system anomaly"; rdfs:comment "preferred label from MONDO" . _:12c96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disorder of lacrimal gland"; "MONDO:patterns/location_top" . _:12c97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98603" . a owl:Class; rdfs:subClassOf ; ; ; "MONDO:0020194"; "congenital alacrima"; "Orphanet:98604"; ; rdfs:label "Congenital alacrima" . _:12c98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital alacrima"; rdfs:comment "preferred label from MONDO" . _:12c99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98604" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020195"; "excretory apparatus of the lacrimal system anomaly"; "Orphanet:98605"; ; rdfs:label "Excretory apparatus of the lacrimal system anomaly" . _:12c9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "excretory apparatus of the lacrimal system anomaly"; rdfs:comment "preferred label from MONDO" . _:12c9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98605" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020196"; "anomaly of the secretory and excretory apparatus of the lacrimal system"; "Orphanet:98608"; ; rdfs:label "Anomaly of the secretory and excretory apparatus of the lacrimal system" . _:12c9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anomaly of the secretory and excretory apparatus of the lacrimal system"; rdfs:comment "preferred label from MONDO" . _:12c9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98608" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0020197", "UMLS:CN207046"; "EEC syndrome and related syndrome"; "Orphanet:98609"; ; rdfs:comment "Editor note: check this"; rdfs:label "EEC syndrome and related syndrome" . _:12c9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207046"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12c9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EEC syndrome and related syndrome"; rdfs:comment "preferred label from MONDO" . _:12ca0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98609" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare conjunctival disease" . a owl:Class; rdfs:subClassOf , ; ; ; "MONDO:0020199"; "conjunctival vascular anomaly"; "Orphanet:98611"; ; rdfs:label "Conjunctival vascular anomaly" . _:12ca1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival vascular anomaly"; rdfs:comment "preferred label from MONDO" . _:12ca2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98611" . a owl:Class; rdfs:subClassOf ; , , ; "HP:0000524", "MONDO:0020201", "MedDRA:10072143", "UMLS:C0239105"; "conjunctival telangiectasia", "conjunctival telangiectasia (disease)"; "Orphanet:98613"; ; rdfs:label "Conjunctival telangiectasia" . _:12ca3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0000524"; "MONDO:otherHierarchy", "ontobio" . _:12ca4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10072143"; "ORDO:98613/e", "Orphanet:98613" . _:12ca5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0239105"; "MONDO:equivalentTo", "Orphanet:98613" . _:12ca6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival telangiectasia"; "MONDO:ambiguous" . _:12ca7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival telangiectasia (disease)"; rdfs:comment "preferred label from MONDO" . _:12ca8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98613" . a owl:Class; rdfs:subClassOf ; , , ; "ICD9:372.89", "MONDO:0020202", "SCTID:231871007", "UMLS:C0339186"; "conjunctival lymphangiectasia"; "Orphanet:98614"; ; rdfs:label "Conjunctival lymphangiectasia" . _:12ca9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:372.89"; "MONDO:relatedTo", "i2s" . _:12caad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:231871007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.73/5.28" . _:12cabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339186"; "MONDO:equivalentTo", "ORDO:98614/e", "Orphanet:98614" . _:12cacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival lymphangiectasia"; rdfs:comment "preferred label from MONDO" . _:12cadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98614" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0020203"; "pigmented conjunctival lesion"; "Orphanet:98615"; ; rdfs:label "Pigmented conjunctival lesion" . _:12caed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmented conjunctival lesion"; rdfs:comment "preferred label from MONDO" . _:12cafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98615" . a owl:Class; rdfs:subClassOf , , ; "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma."; ; , ; "MONDO:0020204", "NCIT:C2961"; "conjunctiva neoplasm", "conjunctiva neoplasm (disease)", "conjunctiva tumor", "conjunctival neoplasm", "conjunctival neoplasms", "conjunctival tumor", "neoplasm of conjunctiva", "neoplasm of the conjunctiva", "tumor of conjunctiva", "tumor of the conjunctiva"; "Orphanet:98616"; ; rdfs:label "Conjunctival tumor" . _:12cb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma."; "NCIT:C2961" . _:12cb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C2961"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.76/0.86" . _:12cb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctiva neoplasm"; "NCIT:C2961" . _:12cb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctiva neoplasm (disease)"; "MONDO:patterns/location" . _:12cb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctiva tumor"; "MONDO:patterns/neoplasm", "NCIT:C2961" . _:12cb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival neoplasm"; "NCIT:C2961" . _:12cb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival neoplasms"; "NCIT:C2961" . _:12cb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival tumor"; "NCIT:C2961" . _:12cb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjunctival tumor"; rdfs:comment "preferred label from MONDO" . _:12cb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of conjunctiva"; "MONDO:patterns/neoplasm", "NCIT:C2961" . _:12cbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neoplasm of the conjunctiva"; "NCIT:C2961" . _:12cbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of conjunctiva"; "MONDO:patterns/neoplasm", "NCIT:C2961" . _:12cbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumor of the conjunctiva"; "NCIT:C2961" . _:12cbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98616" . a owl:Class; rdfs:subClassOf , , , ; "A myopia (disease) that is part of a larger syndrome."; , ; "MONDO:0020208", "UMLS:CN227818"; "syndrome associated with myopia (disease)", "syndromic myopia", "syndromic myopia (disease)"; "syndrome associated with myopia (disease)"; "Orphanet:98620"; ; rdfs:label "Syndromic myopia" . _:12cbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A myopia (disease) that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12cbfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227818"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12cc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with myopia (disease)"; "MONDO:patterns/syndromic" . _:12cc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic myopia"; rdfs:comment "preferred label from MONDO" . _:12cc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic myopia (disease)"; "MONDO:patterns/syndromic" . _:12cc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with myopia (disease)"; "MONDO:patterns/syndromic" . _:12cc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98620" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0020209", "UMLS:CN227819"; "rare hyperopia and astigmatism"; "Orphanet:98621"; , ; rdfs:label "Rare hyperopia and astigmatism"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:12cc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227819"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12cc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare hyperopia and astigmatism"; rdfs:comment "preferred label from MONDO" . _:12cc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98621" . a owl:Class; rdfs:subClassOf , , ; "A hyperopia that is part of a larger syndrome."; , ; "MONDO:0020210", "UMLS:CN227820"; "syndrome associated with hyperopia", "syndromic hyperopia"; "syndrome associated with hyperopia"; "Orphanet:98622"; ; rdfs:label "Syndromic hyperopia" . _:12cc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hyperopia that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12cc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227820"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12ccad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with hyperopia"; "MONDO:patterns/syndromic" . _:12ccbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic hyperopia"; "MONDO:patterns/syndromic" . _:12cccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic hyperopia"; rdfs:comment "preferred label from MONDO" . _:12ccdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with hyperopia"; "MONDO:patterns/syndromic" . _:12cced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98622" . a owl:Class; rdfs:subClassOf , ; "A keratoconus (disease) that is part of a larger syndrome."; , ; "MONDO:0020211", "OMIM:617928", "UMLS:CN227821"; "syndrome associated with keratoconus (disease)", "syndromic keratoconus", "syndromic keratoconus (disease)"; "syndrome associated with keratoconus (disease)"; "Orphanet:98623"; ; rdfs:label "Syndromic keratoconus" . _:12ccfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A keratoconus (disease) that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12cd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227821"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12cd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with keratoconus (disease)"; "MONDO:patterns/syndromic" . _:12cd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic keratoconus"; rdfs:comment "preferred label from MONDO" . _:12cd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic keratoconus (disease)"; "MONDO:patterns/syndromic" . _:12cd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with keratoconus (disease)"; "MONDO:patterns/syndromic" . _:12cd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98623" . a owl:Class; rdfs:subClassOf , ; "A corneal dystrophy (disease) that is part of a larger syndrome."; , ; "MONDO:0020215", "UMLS:CN227823"; "syndrome associated with corneal dystrophy (disease)", "syndromic corneal dystrophy", "syndromic corneal dystrophy (disease)"; "syndrome associated with corneal dystrophy (disease)"; "Orphanet:98628"; ; rdfs:label "Syndromic corneal dystrophy" . _:12cd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A corneal dystrophy (disease) that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12cd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227823"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12cd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with corneal dystrophy (disease)"; "MONDO:patterns/syndromic" . _:12cd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic corneal dystrophy"; rdfs:comment "preferred label from MONDO" . _:12cdad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic corneal dystrophy (disease)"; "MONDO:patterns/syndromic" . _:12cdbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with corneal dystrophy (disease)"; "MONDO:patterns/syndromic" . _:12cdcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98628" . a owl:Class; rdfs:subClassOf ; "A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma."; ; "MONDO:0020216"; "secondary dysgenetic glaucoma"; "secondary congenital glaucoma"; "Orphanet:98631"; ; rdfs:label "Secondary dysgenetic glaucoma" . _:12cddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma."; "http://dx.doi.org/10.1155/2015/781294" . _:12cded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary dysgenetic glaucoma"; rdfs:comment "preferred label from MONDO" . _:12cdfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary congenital glaucoma"; "http://dx.doi.org/10.1155/2015/781294" . _:12ce0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98631" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0020217"; "secondary dysgenetic glaucoma associated with neural crest cell migration anomaly"; "glaucoma associated with neural crest cell migration anomaly"; "Orphanet:98632"; ; rdfs:label "Glaucoma associated with neural crest cell migration anomaly" . _:12ce1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "secondary dysgenetic glaucoma associated with neural crest cell migration anomaly"; rdfs:comment "preferred label from MONDO" . _:12ce2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glaucoma associated with neural crest cell migration anomaly"; "Orphanet:98632" . _:12ce3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98632" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0011119"; "iridogoniodysgenesis"; "Orphanet:98634"; ; rdfs:comment "Editor note: see https://github.com/monarch-initiative/mondo/issues/203"; rdfs:label "Iridogoniodysgenesis" . _:12ce4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iridogoniodysgenesis"; rdfs:comment "preferred label from MONDO" . _:12ce5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98634" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0020222", "UMLS:CN207054"; "rare disease with glaucoma as a major feature"; "Orphanet:98638"; , ; rdfs:label "Rare disease with glaucoma as a major feature", "Rare disease with glaucoma as a major feature"@en; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI, "https://github.com/monarch-initiative/mondo/projects/6"^^xsd:anyURI; "ORPHA:98638" . _:12ce6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207054"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12ce7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare disease with glaucoma as a major feature"; rdfs:comment "preferred label from MONDO" . _:12ce8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98638" . a owl:Class; rdfs:subClassOf ; rdfs:label "Rare lens disease"@en; "ORPHA:98639" . a owl:Class; rdfs:subClassOf , ; "Rare cataract"@en; "UMLS:C0086543"; rdfs:label "Rare cataract", "Rare disorder with lens opacification"@en; "ORPHA:98640" . _:12ce9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0086543"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "A cataract (disease) that is part of a larger syndrome."; , ; "MONDO:0020225", "UMLS:CN227829"; "syndrome associated with cataract (disease)", "syndromic cataract", "syndromic cataract (disease)"; "syndrome associated with cataract (disease)"; "Orphanet:98641"; ; rdfs:label "Syndromic cataract", "Syndromic cataract"@en; "ORPHA:98641" . _:12cead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cataract (disease) that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12cebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227829"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12cecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with cataract (disease)"; "MONDO:patterns/syndromic" . _:12cedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic cataract"; rdfs:comment "preferred label from MONDO" . _:12ceed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic cataract (disease)"; "MONDO:patterns/syndromic" . _:12cefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with cataract (disease)"; "MONDO:patterns/syndromic" . _:12cf0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98641" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0020227", "UMLS:C0339369"; "systemic disease with cataract"; "Orphanet:98643"; ; rdfs:label "Systemic disease with cataract" . _:12cf1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0339369"; "MONDO:equivalentTo", "ORDO:98643/e", "Orphanet:98643" . _:12cf2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "systemic disease with cataract"; rdfs:comment "preferred label from MONDO" . _:12cf3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98643" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0020228", "UMLS:CN207056"; "cataract associated with a metabolic disease"; "Orphanet:98644"; ; rdfs:label "Cataract associated with a metabolic disease", "Metabolic disease with cataract"@en; "ORPHA:98644" . _:12cf4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207056"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12cf5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cataract associated with a metabolic disease"; rdfs:comment "preferred label from MONDO" . _:12cf6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98644" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020229", "UMLS:CN207057"; "cerebral disease with cataract"; "Orphanet:98645"; ; rdfs:label "Cerebral disease with cataract" . _:12cf7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207057"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12cf8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebral disease with cataract"; rdfs:comment "preferred label from MONDO" . _:12cf9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98645" . a owl:Class; rdfs:subClassOf , ; , ; "MONDO:0020230", "UMLS:CN207058"; "renal disease with cataract"; "Orphanet:98646"; ; rdfs:label "Renal disease with cataract" . _:12cfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207058"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12cfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "renal disease with cataract"; rdfs:comment "preferred label from MONDO" . _:12cfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98646" . a owl:Class; rdfs:subClassOf , , ; , ; "MONDO:0020232", "UMLS:CN207060"; "musculoskeletal disease with cataract"; "Orphanet:98648"; ; rdfs:label "Musculoskeletal disease with cataract", "Musculoskeletal disease with cataract"@en; "ORPHA:98648" . _:12cfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207060"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12cfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "musculoskeletal disease with cataract"; rdfs:comment "preferred label from MONDO" . _:12cffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98648" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020233", "UMLS:CN207061"; "dentocutaneous disease with cataract"; "Orphanet:98649"; ; rdfs:label "Dentocutaneous disease with cataract" . _:12d00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207061"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12d01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dentocutaneous disease with cataract"; rdfs:comment "preferred label from MONDO" . _:12d02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98649" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020234"; "craniofacial anomaly with cataract"; "Orphanet:98650"; ; rdfs:label "Craniofacial anomaly with cataract" . _:12d03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniofacial anomaly with cataract"; rdfs:comment "preferred label from MONDO" . _:12d04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98650" . a owl:Class; rdfs:subClassOf , ; "Partial or complete displacement of the crystalline lens from its normal position in the eye."; , ; "HP:0001083", "ICD10:Q12.1", "MONDO:0020236", "NCIT:C125484"; "ectopia lentis", "lens position anomaly"; "Orphanet:98653"; ; rdfs:comment "Editor note: consider obsoleting as is a phenotypic feature"; rdfs:label "Lens position anomaly" . _:12d05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Partial or complete displacement of the crystalline lens from its normal position in the eye."; "NCIT:C125484" . _:12d06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q12.1"; "ORDO:98653/attributed", "ORDO:98653/ntbt", "Orphanet:98653" . _:12d07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C125484"; "MONDO:equivalentTo" . _:12d08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectopia lentis"; "NCIT:C125484" . _:12d09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lens position anomaly"; rdfs:comment "preferred label from MONDO" . _:12d0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98653" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020237"; "lens shape anomaly"; "Orphanet:98655"; ; rdfs:label "Lens shape anomaly" . _:12d0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lens shape anomaly"; rdfs:comment "preferred label from MONDO" . _:12d0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98655" . a owl:Class; rdfs:subClassOf , , , ; , ; "MONDO:0020238", "UMLS:CN207063"; "genetic vitreoretinal disease", "genetic vitreous-retinal disease", "inherited vitreous-retinal disease"; "Orphanet:98657"; ; rdfs:label "Genetic vitreous-retinal disease" . _:12d0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207063"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic vitreoretinal disease"; "MONDO:cjm" . _:12d0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic vitreous-retinal disease"; "Orphanet:98657" . _:12d10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited vitreous-retinal disease"; rdfs:comment "preferred label from MONDO" . _:12d11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98657" . a owl:Class; rdfs:subClassOf , ; "The absence of or defect in the perception of colors."; , , , ; , , , , , , ; ; "DOID:13399", "ICD10:H53.5", "ICD10:H53.50", "ICD9:368.5", "ICD9:368.59", "MONDO:0001703", "NCIT:C3891", "SCTID:193683001", "UMLS:C0009398", "UMLS:C0242225", "UMLS:CN207064"; "blindness color", "color vision defects", "color vision deficiency", "color vision disorder", "color-vision disease", "colour blindness", "colour vision deficiency"; "color blindness"; "Orphanet:98658"; ; rdfs:label "Color-vision disease" . _:12d12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The absence of or defect in the perception of colors."; "NCIT:P378" . _:12d13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "NCIT:C3891" . _:12d14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:13399"; "MONDO:equivalentTo" . _:12d15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H53.5"; "DOID:13399", "ORDO:98658/attributed", "ORDO:98658/ntbt", "Orphanet:98658" . _:12d16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H53.50"; "DOID:13399" . _:12d17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:368.5"; "DOID:13399" . _:12d18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:368.59"; "MONDO:relatedTo", "i2s" . _:12d19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C3891"; "DOID:13399", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12d1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:193683001"; "DOID:13399", "MONDO:equivalentTo", "MONDO:kboom-pr-0.77/0.38/0.76" . _:12d1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0009398"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12d1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0242225"; "DOID:13399", "MONDO:equivalentTo", "NCIT:C3891" . _:12d1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207064"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12d1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "blindness color"; "DOID:13399", "MTH:NOCODE" . _:12d1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "color vision defects"; "NCIT:C3891" . _:12d20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "color vision deficiency"; "NCIT:C3891" . _:12d21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "color vision disorder"; rdfs:comment "preferred label from MONDO" . _:12d22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "color-vision disease"; "MONDO:0020239" . _:12d23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colour blindness"; "DOID:13399" . _:12d24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "colour vision deficiency"; "DOID:13399" . _:12d25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "color blindness"; "DOID:13399" . _:12d26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98658" . a owl:Class; rdfs:subClassOf , ; "A retinitis pigmentosa that is part of a larger syndrome."; , ; "MONDO:0020240", "UMLS:CN227834"; "syndrome associated with retinitis pigmentosa", "syndromic retinitis pigmentosa"; "syndrome associated with retinitis pigmentosa"; "Orphanet:98661"; ; rdfs:label "Syndromic retinitis pigmentosa" . _:12d27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A retinitis pigmentosa that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12d28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227834"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12d29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with retinitis pigmentosa"; "MONDO:patterns/syndromic" . _:12d2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic retinitis pigmentosa"; "MONDO:patterns/syndromic" . _:12d2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic retinitis pigmentosa"; rdfs:comment "preferred label from MONDO" . _:12d2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with retinitis pigmentosa"; "MONDO:patterns/syndromic" . _:12d2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98661" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020241", "UMLS:CN227835"; "unclassified familial retinal dystrophy"; "Orphanet:98662"; ; rdfs:label "Unclassified familial retinal dystrophy" . _:12d2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227835"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "unclassified familial retinal dystrophy"; rdfs:comment "preferred label from MONDO" . _:12d30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98662" . a owl:Class; rdfs:subClassOf ; "Macular dystrophy that is related to a change in a gene."; , , ; "DC:0000263", "ICD10:H35.5", "MONDO:0020242", "NCIT:C140264", "SCTID:276436007"; "genetic macular dystrophy", "genetic macular dystrophy (disease)"; "Orphanet:98664"; ; rdfs:label "Genetic macular dystrophy" . _:12d31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Macular dystrophy that is related to a change in a gene."; "NCIT:C140264" . _:12d32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC:0000263"; "MONDO:equivalentTo" . _:12d33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H35.5"; "MONDO:directSiblingOf", "ORDO:98664/attributed", "ORDO:98664/ntbt", "Orphanet:98664" . _:12d34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C140264"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12d35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:276436007"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.78/6.88" . _:12d36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic macular dystrophy"; rdfs:comment "preferred label from MONDO" . _:12d37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic macular dystrophy (disease)"; "MONDO:patterns/genetic" . _:12d38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98664" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020244"; "unclassified primitive or secondary maculopathy"; "Orphanet:98666"; ; rdfs:label "Unclassified primitive or secondary maculopathy" . _:12d39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "unclassified primitive or secondary maculopathy"; rdfs:comment "preferred label from MONDO" . _:12d3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98666" . a owl:Class; rdfs:subClassOf ; , ; "HP:0007773", "MONDO:0020246", "UMLS:C1850109"; "inherited vitreoretinopathy"; "Orphanet:98668"; ; rdfs:label "Vitreoretinopathy" . _:12d3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1850109"; "MONDO:equivalentTo" . _:12d3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inherited vitreoretinopathy"; rdfs:comment "preferred label from MONDO" . _:12d3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98668" . a owl:Class; rdfs:subClassOf ; , ; "ICD10:Q14.1", "ICD9:743.56", "MONDO:0020247", "SCTID:449866003"; "congenital vitreoretinal dysplasia", "vitreoretinal dysplasia"; "Orphanet:98669"; ; rdfs:label "Congenital vitreoretinal dysplasia" . _:12d3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q14.1"; "ORDO:98669/attributed", "ORDO:98669/ntbt", "Orphanet:98669" . _:12d3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:743.56"; "MONDO:relatedTo", "i2s" . _:12d40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:449866003"; "MONDO:equivalentTo" . _:12d41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital vitreoretinal dysplasia"; rdfs:comment "preferred label from MONDO" . _:12d42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98669" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020249", "MedDRA:10061323", "OMIM:258660", "OMIM:611543"; "hereditary optic neuropathy"; "Orphanet:98671"; ; rdfs:label "Optic neuropathy" . _:12d43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10061323"; "ORDO:98671/e", "Orphanet:98671" . _:12d44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:611543"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12d45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary optic neuropathy"; rdfs:comment "preferred label from MONDO" . _:12d46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98671" . a owl:Class; rdfs:subClassOf ; "ICD10:H47.2", "OMIM:616732"; rdfs:label "Autosomal recessive optic atrophy" . _:12d47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616732"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . a owl:Class; rdfs:subClassOf ; "ICD10:H47.2", "OMIM:617302"; rdfs:label "Autosomal recessive syndromic optic atrophy" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020251", "UMLS:CN207070"; "rare strabismus and restriction syndrome"; "Orphanet:98681"; , ; rdfs:label "Rare strabismus and restriction syndrome"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:12d48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207070"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare strabismus and restriction syndrome"; rdfs:comment "preferred label from MONDO" . _:12d4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98681" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020253", "UMLS:CN207072"; "syndrome with a symptomatic strabismus"; "Orphanet:98683"; ; rdfs:label "Syndrome with a symptomatic strabismus" . _:12d4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207072"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome with a symptomatic strabismus"; rdfs:comment "preferred label from MONDO" . _:12d4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98683" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020254"; "craniostenosis associated with a strabismus"; "Orphanet:98684"; ; rdfs:label "Craniostenosis associated with a strabismus" . _:12d4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "craniostenosis associated with a strabismus"; rdfs:comment "preferred label from MONDO" . _:12d4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98684" . a owl:Class; rdfs:subClassOf , , , ; "Paralysis of the oculomotor nerve."; , ; , , , , ; "DOID:11550", "ICD10:H49.0", "MONDO:0001309", "NCIT:C27597", "SCTID:388980004", "UMLS:C0028866"; "III nerve palsy", "IIIrd nerve paralysis", "cranial nerve palsy of oculomotor nerve", "oculomotor nerve cranial nerve palsy", "oculomotor nerve paralysis", "oculomotor palsy", "third cranial nerve paralysis"; "third cranial nerve paralysis, NOS"; "Orphanet:98685"; ; rdfs:label "Oculomotor palsy" . _:12d50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Paralysis of the oculomotor nerve."; "NCIT:C27597" . _:12d51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11550"; "MONDO:equivalentTo" . _:12d52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:H49.0"; "DOID:11550" . _:12d53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27597"; "DOID:11550", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.93/31.20" . _:12d54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:388980004"; "DOID:11550", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.80/9.21" . _:12d55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0028866"; "DOID:11550", "MONDO:equivalentTo", "NCIT:C27597" . _:12d56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "III nerve palsy"; "DOID:11550" . _:12d57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IIIrd nerve paralysis"; "DOID:11550", "NCIT:C27597" . _:12d58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cranial nerve palsy of oculomotor nerve"; "MONDO:design_pattern" . _:12d59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor nerve cranial nerve palsy"; "MONDO:patterns/location" . _:12d5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor nerve paralysis"; rdfs:comment "preferred label from MONDO" . _:12d5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor palsy"; "MONDO:0020255" . _:12d5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "third cranial nerve paralysis"; "DOID:11550" . _:12d5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "third cranial nerve paralysis, NOS"; "DOID:11550"; . _:12d5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98685" . a owl:Class; rdfs:subClassOf ; "oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement."; ; "GARD:0008403", "MONDO:0020257"; "supranuclear oculomotor palsy"; "conjugate gaze palsy", "gaze palsy", "supranuclear disorder of eye movement", "supranuclear ocular palsy"; "Orphanet:98687"; , ; rdfs:comment "Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves"; rdfs:label "Supranuclear oculomotor palsy" . _:12d5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement."; "MONDO:cjm", "https://doi.org/10.1111/j.1468-1331.2009.02779.x" . _:12d60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008403"; "MONDO:equivalentTo" . _:12d61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "supranuclear oculomotor palsy"; rdfs:comment "preferred label from MONDO" . _:12d62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conjugate gaze palsy"; "GARD:0008403" . _:12d63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gaze palsy"; "GARD:0008403" . _:12d64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "supranuclear disorder of eye movement"; "PMID:2669857" . _:12d65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "supranuclear ocular palsy"; "GARD:0008403" . _:12d66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98687" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020258", "UMLS:CN207073"; "oculomotor apraxia or related oculomotor disease"; "Orphanet:98688"; ; rdfs:label "Oculomotor apraxia or related oculomotor disease" . _:12d67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207073"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculomotor apraxia or related oculomotor disease"; rdfs:comment "preferred label from MONDO" . _:12d69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98688" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0020259"; "myopathy with eye involvement"; "Orphanet:98689"; ; rdfs:label "Myopathy with eye involvement" . _:12d6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy with eye involvement"; rdfs:comment "preferred label from MONDO" . _:12d6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98689" . a owl:Class; rdfs:subClassOf ; rdfs:label "Myasthenic syndrome with eye involvement" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020261"; "abnormal eye movements", "neurological disease with abnormal eye movements"; "Orphanet:98691"; ; rdfs:label "Abnormal eye movements" . _:12d6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "abnormal eye movements"; "Orphanet:98691" . _:12d6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neurological disease with abnormal eye movements"; rdfs:comment "preferred label from MONDO" . _:12d6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98691" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020262"; "nervous system anomaly with eye involvement"; "Orphanet:98692"; ; rdfs:label "Nervous system anomaly with eye involvement" . _:12d6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nervous system anomaly with eye involvement"; rdfs:comment "preferred label from MONDO" . _:12d70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98692" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020263"; "spinocerebellar ataxia with oculomotor anomaly"; "Orphanet:98693"; ; rdfs:label "Spinocerebellar ataxia with oculomotor anomaly" . _:12d71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia with oculomotor anomaly"; rdfs:comment "preferred label from MONDO" . _:12d72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98693" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020264"; "spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly"; "Orphanet:98694"; ; rdfs:label "Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly" . _:12d73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly"; rdfs:comment "preferred label from MONDO" . _:12d74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98694" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020265", "UMLS:CN207076"; "mitochondrial disease with eye involvement"; "Orphanet:98695"; ; rdfs:label "Mitochondrial disease with eye involvement" . _:12d75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207076"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mitochondrial disease with eye involvement"; rdfs:comment "preferred label from MONDO" . _:12d77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98695" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020266"; "genodermatosis with ocular features"; "Orphanet:98696"; ; rdfs:label "Genodermatosis with ocular features" . _:12d78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genodermatosis with ocular features"; rdfs:comment "preferred label from MONDO" . _:12d79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98696" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020267", "UMLS:CN227842"; "genetic keratinization disorder associated with ocular features"; "Orphanet:98697"; ; rdfs:label "Genetic keratinization disorder associated with ocular features" . _:12d7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227842"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genetic keratinization disorder associated with ocular features"; rdfs:comment "preferred label from MONDO" . _:12d7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98697" . a owl:Class; rdfs:subClassOf ; ; "MONDO:0020268"; "ichthyosis associated with ocular features"; "Orphanet:98698"; ; rdfs:label "Ichthyosis associated with ocular features" . _:12d7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ichthyosis associated with ocular features"; rdfs:comment "preferred label from MONDO" . _:12d7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98698" . a owl:Class; rdfs:subClassOf , ; "A ichthyosis associated with ocular features that is part of a larger syndrome."; , ; "MONDO:0020269", "UMLS:CN227843"; "syndrome associated with ichthyosis associated with ocular features", "syndromic ichthyosis associated with ocular features"; "syndrome associated with ichthyosis associated with ocular features"; "Orphanet:98699"; ; rdfs:label "Syndromic ichthyosis associated with ocular features" . _:12d7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A ichthyosis associated with ocular features that is part of a larger syndrome."; "MONDO:patterns/syndromic" . _:12d80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227843"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12d81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with ichthyosis associated with ocular features"; "MONDO:patterns/syndromic" . _:12d82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic ichthyosis associated with ocular features"; "MONDO:patterns/syndromic" . _:12d83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndromic ichthyosis associated with ocular features"; rdfs:comment "preferred label from MONDO" . _:12d84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "syndrome associated with ichthyosis associated with ocular features"; "MONDO:patterns/syndromic" . _:12d85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98699" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020270", "UMLS:CN227844"; "pigmentation disorder with eye involvement"; "Orphanet:98700"; ; rdfs:label "Pigmentation disorder with eye involvement" . _:12d86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227844"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pigmentation disorder with eye involvement"; rdfs:comment "preferred label from MONDO" . _:12d88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98700" . a owl:Class; rdfs:subClassOf , ; ; "MONDO:0020271"; "phakomatosis with eye involvement"; "Orphanet:98701"; ; rdfs:label "Phakomatosis with eye involvement" . _:12d89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "phakomatosis with eye involvement"; rdfs:comment "preferred label from MONDO" . _:12d8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98701" . a owl:Class; rdfs:subClassOf , ; "Gautier Koscielny"; , ; "MONDO:0020272", "OMIM:614170", "ORDO:98702", "UMLS:C0009782", "UMLS:CN207077"; "connective tissue disease with eye involvement"; "Orphanet:98702"; ; rdfs:label "Connective tissue disease with eye involvement" . _:12d8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gautier Koscielny"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12d8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:614170"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12d8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORDO:98702"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12d8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0009782"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12d8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207077"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "connective tissue disease with eye involvement"; rdfs:comment "preferred label from MONDO" . _:12d91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98702" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020274", "UMLS:CN207079"; "onycho-patellar syndrome with eye involvement"; "Orphanet:98704"; ; rdfs:label "Onycho-patellar syndrome with eye involvement" . _:12d92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207079"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "onycho-patellar syndrome with eye involvement"; rdfs:comment "preferred label from MONDO" . _:12d94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98704" . a owl:Class; rdfs:subClassOf , ; "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism."; ; "ICD10:E70.3", "MONDO:0020275"; "oculocutaneous or ocular albinism"; "Orphanet:98706"; ; rdfs:label "Oculocutaneous or ocular albinism" . _:12d95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism."; "MONDO:cjm", "https://en.wikipedia.org/wiki/Albinism" . _:12d96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E70.3"; "MONDO:subClassOf", "ORDO:98706/e", "ORDO:98706/specific", "Orphanet:98706" . _:12d97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "oculocutaneous or ocular albinism"; rdfs:comment "preferred label from MONDO" . _:12d98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98706" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020277", "UMLS:CN207080"; "ectodermal malformation syndrome associated with ocular features"; "Orphanet:98709"; ; rdfs:label "Ectodermal malformation syndrome associated with ocular features" . _:12d99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207080"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal malformation syndrome associated with ocular features"; rdfs:comment "preferred label from MONDO" . _:12d9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98709" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020278", "UMLS:CN207081"; "metabolic disease associated with ocular features"; "Orphanet:98710"; ; rdfs:label "Metabolic disease associated with ocular features" . _:12d9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207081"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12d9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease associated with ocular features"; rdfs:comment "preferred label from MONDO" . _:12d9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98710" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020279", "UMLS:CN207082"; "metabolic disease with corneal opacity"; "Orphanet:98711"; ; rdfs:label "Metabolic disease with corneal opacity" . _:12d9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207082"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12da0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease with corneal opacity"; rdfs:comment "preferred label from MONDO" . _:12da1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98711" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020280", "UMLS:CN207083"; "metabolic disease with cataract"; "Orphanet:98712"; ; rdfs:label "Metabolic disease with cataract" . _:12da2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207083"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12da3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease with cataract"; rdfs:comment "preferred label from MONDO" . _:12da4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98712" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020281", "UMLS:CN207084"; "metabolic disease with pigmentary retinitis"; "Orphanet:98713"; ; rdfs:label "Metabolic disease with pigmentary retinitis" . _:12da5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207084"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12da6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease with pigmentary retinitis"; rdfs:comment "preferred label from MONDO" . _:12da7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98713" . a owl:Class; rdfs:subClassOf ; , ; "MONDO:0020282", "UMLS:CN207085"; "metabolic disease with macular cherry-red spot"; "Orphanet:98714"; ; rdfs:label "Metabolic disease with macular cherry-red spot" . _:12da8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207085"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12da9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "metabolic disease with macular cherry-red spot"; rdfs:comment "preferred label from MONDO" . _:12daad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98714" . a owl:Class; rdfs:subClassOf ; rdfs:label "Transposition of the great arteries and conotruncal cardiac anomaly"@en; "ORPHA:98717" . a owl:Class; rdfs:subClassOf ; rdfs:label "Congenital pulmonary veins anomaly"@en; "ORPHA:98729" . a owl:Class; rdfs:subClassOf , , , , , ; , , ; "MESH:C537846", "MONDO:0020297", "UMLS:CN166718"; "Noonan syndrome and Noonan-related syndrome"; "Orphanet:98733"; ; rdfs:label "Noonan syndrome and Noonan-related syndrome", "Noonan syndrome and Noonan-related syndrome"@en; "ORPHA:98733" . _:12dabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C537846"; "MONDO:equivalentTo", "MONDO:relatedTo" . _:12dacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN166718"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12dadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Noonan syndrome and Noonan-related syndrome"; rdfs:comment "preferred label from MONDO" . _:12daed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98733" . a owl:Class; rdfs:subClassOf , , ; , ; "UPD(15)mat"@en; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0020298", "UMLS:CN207093"; "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15", "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15", "UPD(15)mat"; "Orphanet:98754"; ; rdfs:label "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15", "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"@en; "ORPHA:98754" . _:12dafd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33343; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33343 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:12db0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:12db1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:98754/attributed", "ORDO:98754/ntbt", "Orphanet:98754" . _:12db2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207093"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12db3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"; rdfs:comment "preferred label from MONDO" . _:12db4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15"; "MONDORULE:2", "Orphanet:98754" . _:12db5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPD(15)mat"; "Orphanet:98754" . _:12db6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98754" . a owl:Class; rdfs:subClassOf , , ; , ; "ICD-10:Q87.1", "ICD10:Q87.1", "MONDO:0020301", "UMLS:CN207115"; "Prader-Willi syndrome due to paternal 15q11q13 deletion"; "Orphanet:98793"; ; rdfs:label "Prader-Willi syndrome due to paternal 15q11q13 deletion", "Prader-Willi syndrome due to paternal 15q11q13 deletion"@en; "ORPHA:98793" . _:12db7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33352; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "Attributed"@en . _:12db8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.1"; "NTBT (narrower term maps to a broader term)"@en . _:12db9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.1"; "ORDO:98793/attributed", "ORDO:98793/ntbt", "Orphanet:98793" . _:12dbad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207115"; "MEDGEN:kboom-pr97-c99", "MONDO:equivalentTo" . _:12dbbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Prader-Willi syndrome due to paternal 15q11q13 deletion"; rdfs:comment "preferred label from MONDO" . _:12dbcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98793" . a owl:Class; rdfs:subClassOf , , ; "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones."; , , ; "Absent tibia-polydactyly syndrome"@en; "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones."@en; "orphanet"@en; "GARD:0008309", "ICD-10:Q87.2", "ICD10:Q87.2", "MESH:C535564", "MONDO:0020306", "MSH:C535564", "MeSH:C535564", "OMIM:188740", "UMLS:C1861099"; "absent tibia-polydactyly syndrome"; "absence of tibia with polydactyly", "polydactyly with absent tibia", "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"; "Orphanet:988"; ; rdfs:label "Absent tibia - polydactyly", "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"@en; "ORPHA:988" . _:12dbdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones."; "Orphanet:988" . _:12dbed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0008309"; "MONDO:equivalentTo", "Orphanet-shared" . _:12dbfd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33361; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33361 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "Attributed"@en . _:12dc0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:Q87.2"; "NTBT (narrower term maps to a broader term)"@en . _:12dc1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:Q87.2"; "ORDO:988/attributed", "ORDO:988/ntbt", "Orphanet:988" . _:12dc2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535564"; "MONDO:equivalentTo", "ORDO:988/e", "Orphanet:988" . _:12dc3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535564"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12dc4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:188740"; "NTBT (narrower term maps to a broader term)"@en . _:12dc5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1861099"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12dc6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1861099"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "ORDO:988/e", "Orphanet:988" . _:12dc7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "absent tibia-polydactyly syndrome"; rdfs:comment "preferred label from MONDO" . _:12dc8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "absence of tibia with polydactyly"; "GARD:0008309" . _:12dc9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "polydactyly with absent tibia"; "GARD:0008309" . _:12dcad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"; "Orphanet:988" . _:12dcbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:988" . a owl:Class; rdfs:subClassOf , , , ; "Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency."; ; , , , ; "Anhidrotic ectodermal dysplasia with immunodeficiency"@en, "EDA-ID"@en, "HED-ID"@en; "Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency."@en; "orphanet", "orphanet"@en; "GARD:0009936", "ICD-10:D82.8", "ICD10:D82.8", "MONDO:0010293", "NCIT:C118844", "OMIM:300291", "OMIM:612132", "SCTID:703525006", "UMLS:C1846006"; "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "HED-ID", "anhidrotic ectodermal dysplasia with immune deficiency", "anhidrotic ectodermal dysplasia with immunodeficiency", "hypohidrotic ectodermal dysplasia with immune deficiency", "hypohidrotic ectodermal dysplasia with immunodeficiency"; "EDA-Id", "HED-Id", "Xhm-Ed", "ectodermal dysplasia, anhidrotic, with immune deficiency", "ectodermal dysplasia, hypohidrotic, with immune deficiency", "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia"; "Orphanet:98813"; ; rdfs:label "Hypohidrotic ectodermal dysplasia with immunodeficiency", "Hypohidrotic ectodermal dysplasia with immunodeficiency"@en; "ORPHA:98813" . _:12dccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0009936"; "MONDO:equivalentTo", "OMIM-shared" . _:12dcdd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33376; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33376 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.8"; "Attributed"@en . _:12dced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D82.8"; "NTBT (narrower term maps to a broader term)"@en . _:12dcfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D82.8"; "ORDO:98813/attributed", "ORDO:98813/ntbt", "Orphanet:98813" . _:12dd0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C118844"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:12dd1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300291"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12dd2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612132"; "BTNT (broader term maps to a narrower term)"@en . _:12dd3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703525006"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.74/0.37/0.54" . _:12dd4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1846006"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12dd5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1846006"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C118844", "OMIM:300291", "Orphanet:98813" . _:12dd6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDA-ID"; "Orphanet:98813" . _:12dd7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HED-ID"; "Orphanet:98813" . _:12dd8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anhidrotic ectodermal dysplasia with immune deficiency"; "NCIT:C118844" . _:12dd9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anhidrotic ectodermal dysplasia with immunodeficiency"; "Orphanet:98813" . _:12ddad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypohidrotic ectodermal dysplasia with immune deficiency"; "NCIT:C118844" . _:12ddbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypohidrotic ectodermal dysplasia with immunodeficiency"; rdfs:comment "preferred label from MONDO" . _:12ddcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDA-Id"; "OMIM:300291" . _:12dddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HED-Id"; "OMIM:300291" . _:12dded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Xhm-Ed"; "OMIM:300291" . _:12ddfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia, anhidrotic, with immune deficiency"; "OMIM:300291" . _:12de0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ectodermal dysplasia, hypohidrotic, with immune deficiency"; "OMIM:300291" . _:12de1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia"; "OMIM:300291" . _:12de2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98813" . a owl:Class; rdfs:subClassOf , , ; "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones."; , , , ; "CDA II"@en, "CDA type 2"@en, "CDA type II"@en, "Congenital dyserythropoietic anemia type 2"@en, "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)"@en, "SEC23B-CDG"@en; "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones."@en; "orphanet", "orphanet"@en; "GARD:0002001", "ICD-10:D64.4", "ICD10:D64.4", "ICD9:285.8", "MONDO:0009134", "OMIM:224100", "SCTID:68870007", "UMLS:C1306589"; "CDA II", "CDA type 2", "CDA type II", "Congenital dyserythropoietic anemia type 2", "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)", "SEC23B-CDG", "congenital dyserythropoietic anemia type 2", "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)"; "CDAN2", "Cda 2", "anemia, congenital dyserythropoietic, type 2", "anemia, congenital dyserythropoietic, type II", "anemia, congenital dyserythropoietic, type II; CDAN2", "anemia, dyserythropoietic, congenital type 2", "dyserythropoietic Anemia, congenital, type 2", "dyserythropoietic Anemia, hempas type", "hempas anemia", "hereditary erythroblastic multinuclearity with Positive acidified-serum test"; "Orphanet:98873"; ; rdfs:label "Congenital dyserythropoietic anemia type II", "Congenital dyserythropoietic anemia type II"@en; "ORPHA:98873" . _:12de3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones."; "Orphanet:98873" . _:12de4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002001"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12de5d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33401; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33401 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D64.4"; "Attributed"@en . _:12de6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D64.4"; "NTBT (narrower term maps to a broader term)"@en . _:12de7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D64.4"; "MONDO:subClassOf", "ORDO:98873/attributed", "ORDO:98873/ntbt", "Orphanet:98873" . _:12de8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:285.8"; "MONDO:relatedTo", "i2s" . _:12de9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:224100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12dead a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:224100"; "MONDO:equivalentTo", "ORDO:98873/e", "Orphanet:98873" . _:12debd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:68870007"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.75/0.37/0.61" . _:12decd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1306589"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12dedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDA II"; "Orphanet:98873" . _:12deed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDA type 2"; "Orphanet:98873" . _:12defd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDA type II"; "Orphanet:98873" . _:12df0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEC23B-CDG"; "Orphanet:98873" . _:12df1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital dyserythropoietic anemia type 2"; "Orphanet:98873" . _:12df2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital dyserythropoietic anemia type 2"; rdfs:comment "preferred label from MONDO" . _:12df3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)"; "Orphanet:98873" . _:12df4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDAN2"; "MONDO:Lexical", "OMIM:224100" . _:12df5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cda 2"; "OMIM:224100" . _:12df6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, congenital dyserythropoietic, type 2"; "OMIM:224100" . _:12df7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, congenital dyserythropoietic, type II"; "MONDO:Lexical", "OMIM:224100" . _:12df8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, congenital dyserythropoietic, type II; CDAN2"; "OMIM:224100" . _:12df9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "anemia, dyserythropoietic, congenital type 2"; "GARD:0002001" . _:12dfad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dyserythropoietic Anemia, congenital, type 2"; "OMIM:224100" . _:12dfbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dyserythropoietic Anemia, hempas type"; "OMIM:224100" . _:12dfcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hempas anemia"; "GARD:0002001" . _:12dfdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary erythroblastic multinuclearity with Positive acidified-serum test"; "OMIM:224100" . _:12dfed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98873" . a owl:Class; rdfs:subClassOf , , , ; "Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency."; , , ; , , , , , , , , , ; "Factor VIII deficiency"@en; "Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency."@en; "orphanet", "orphanet"@en; "DOID:12134", "EFO:0007267", "GARD:0006591", "ICD-10:D66", "ICD10:D66", "ICD9:286.0", "MESH:D006467", "MONDO:0010602", "MSH:D006467", "MeSH:D006467", "MedDRA:10016080", "NCIT:C27146", "OMIM:134500", "OMIM:306700", "SCTID:234440005", "UMLS:C0019069", "UMLS:C3494187", "UMLS:CN239112"; "Factor VIII deficiency", "Subhemophilia", "congenital factor VIII disorder", "factor VIII deficiency", "hemophilia A", "hemophilia type A", "hemophilia type a", "hereditary Factor VIII deficiency", "hereditary Factor VIII deficiency disease"; "HEMA", "Haemophilia A", "autosomal hemophilia a", "classic hemophilia", "classical hemophilia", "factor 8 deficiency", "hem A", "hemophilia A, congenital", "hemophilia A; HEMA", "hemophilia, classic"; "Orphanet:98878"; ; rdfs:label "Hemophilia A", "Hemophilia A"@en; "ORPHA:98878" . _:12dffd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency."; "Orphanet:98878" . _:12e00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:12134"; "EFO:0007267", "MONDO:equivalentTo" . _:12e01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFO:0007267"; "MONDO:equivalentTo" . _:12e02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006591"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12e03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D66"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e04d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33433; owl:annotatedProperty ; owl:annotatedTarget "Specific code (The term has its own code in the ICD10)"@en; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33433 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D66"; "Specific code (The term has its own code in the ICD10)"@en . _:12e05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D66"; "DOID:12134", "ORDO:98878/e", "ORDO:98878/specific", "Orphanet:98878" . _:12e06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:286.0"; "DOID:12134" . _:12e07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D006467"; "DOID:12134", "EFO:0007267", "MONDO:equivalentTo", "ORDO:98878/e", "Orphanet:98878" . _:12e08d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D006467"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016080"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10016080"; "ORDO:98878/e", "Orphanet:98878" . _:12e0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C27146"; "DOID:12134", "MONDO:equivalentTo", "MONDO:kboom-pr-0.91/0.68/1.32" . _:12e0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:134500"; "DOID:12134", "MONDO:equivalentTo" . _:12e0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:306700"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:306700"; "MONDO:equivalentTo", "ORDO:98878/e", "Orphanet:98878" . _:12e0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:234440005"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.88/0.75/0.11" . _:12e10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019069"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0019069"; "DOID:12134", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C27146", "OMIM:134500", "ORDO:98878/e", "Orphanet:98878" . _:12e12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3494187"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN239112"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:12e14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Subhemophilia"; "DOID:12134", "MTHICD9_2006:286.0" . _:12e15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital factor VIII disorder"; "DOID:12134", "ICD9CM_2006:286.0" . _:12e16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor VIII deficiency"; "MONDO:0007596", "Orphanet:98878" . _:12e17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia A"; "DOID:12134", "MONDO:Lexical", "OMIM:306700" . _:12e18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia A"; rdfs:comment "preferred label from MONDO" . _:12e19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia type A"; "MONDORULE:1", "Orphanet:98878" . _:12e1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia type a"; "MONDORULE:1", "OMIM:306700" . _:12e1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary Factor VIII deficiency"; "NCIT:C27146" . _:12e1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary Factor VIII deficiency disease"; "NCIT:C27146" . _:12e1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HEMA"; "MONDO:Lexical", "OMIM:306700" . _:12e1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Haemophilia A"; "GARD:0006591" . _:12e1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal hemophilia a"; "OMIM:134500" . _:12e20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classic hemophilia"; "GARD:0006591" . _:12e21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "classical hemophilia"; "GARD:0006591" . _:12e22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "factor 8 deficiency"; "GARD:0006591", "OMIM:134500" . _:12e23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hem A"; "GARD:0006591" . _:12e24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia A, congenital"; "GARD:0006591" . _:12e25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia A; HEMA"; "OMIM:306700" . _:12e26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hemophilia, classic"; "OMIM:306700" . _:12e27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98878" . a owl:Class; rdfs:subClassOf , , ; "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle."; , ; , , , , , , , , , ; "BMD"@en, "Becker dystrophinopathy"@en; "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle."@en; "orphanet"@en; "DOID:9883", "GARD:0005900", "ICD-10:G71.0", "ICD10:G71.0", "MONDO:0010311", "MSH:C537666", "MeSH:C537666", "MedDRA:10059117", "NCIT:C84587", "OMIM:159050", "OMIM:300376", "SCTID:387732009", "UMLS:C0699741", "UMLS:C0917713", "UMLS:C3490459"; "BMD", "Becker dystrophinopathy", "Becker muscular dystrophy", "benign congenital myopathy", "benign pseudohypertrophic muscular dystrophy"; "BMD", "Becker's muscular dystrophy", "muscular dystrophy pseudohypertrophic progressive, Becker type", "muscular dystrophy, Becker type", "muscular dystrophy, Becker type; BMD", "muscular dystrophy, pseudohypertrophic progressive, Becker type"; "Orphanet:98895"; , ; rdfs:label "Becker muscular dystrophy", "Becker muscular dystrophy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy"^^xsd:anyURI; "ORPHA:98895" . _:12e28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle."; "Orphanet:98895" . _:12e29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:9883"; "MONDO:equivalentTo" . _:12e2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0005900"; "MONDO:equivalentTo" . _:12e2bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33473; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33473 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12e2cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:12e2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:98895/inclusion", "ORDO:98895/ntbt", "Orphanet:98895" . _:12e2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C537666"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059117"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10059117"; "ORDO:98895/e", "Orphanet:98895" . _:12e31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C84587"; "MONDO:equivalentTo" . _:12e32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:159050"; "BTNT (broader term maps to a narrower term)"@en . _:12e33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300376"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300376"; "DOID:9883", "MONDO:equivalentTo", "ORDO:98895/e", "Orphanet:98895" . _:12e35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:387732009"; "MONDO:equivalentTo" . _:12e36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0699741"; "DOID:9883", "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12e37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0917713"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3490459"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo" . _:12e39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BMD"; "Orphanet:98895" . _:12e3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Becker dystrophinopathy"; "Orphanet:98895" . _:12e3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Becker muscular dystrophy"; "OMIM:300376" . _:12e3cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Becker muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:12e3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign congenital myopathy"; "DOID:9883" . _:12e3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign pseudohypertrophic muscular dystrophy"; "DOID:9883" . _:12e3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BMD"; "MONDO:Lexical", "OMIM:300376" . _:12e40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Becker's muscular dystrophy"; "GARD:0005900" . _:12e41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy pseudohypertrophic progressive, Becker type"; "GARD:0005900" . _:12e42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, Becker type"; "GARD:0005900", "MONDO:Lexical", "OMIM:300376" . _:12e43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, Becker type; BMD"; "OMIM:300376" . _:12e44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, pseudohypertrophic progressive, Becker type"; "OMIM:300376" . _:12e45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0005900" . _:12e46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98895" . _:12e47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy"^^xsd:anyURI; "GARD:0005900" . a owl:Class; rdfs:subClassOf , , , ; "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle."; , , ; , , , , , , , ; "DMD"@en, "Severe dystrophinopathy, Duchenne type"@en; "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle."@en; "orphanet"@en; "true"; "DOID:11723", "GARD:0006291", "ICD-10:G71.0", "ICD10:G71.0", "MESH:D020388", "MONDO:0010679", "MSH:D020388", "MeSH:D020388", "MedDRA:10013801", "NCIT:C75482", "OMIM:310200", "SCTID:76670001", "UMLS:C0013264"; "DMD", "Duchenne muscular dystrophy", "Severe dystrophinopathy, Duchenne type", "muscular dystrophy, Duchenne", "severe dystrophinopathy, Duchenne type"; "muscular dystrophy, Duchenne type", "muscular dystrophy, Duchenne type; DMD", "muscular dystrophy, pseudohypertrophic progressive, Duchenne type"; "Orphanet:98896"; , ; rdfs:label "Duchenne muscular dystrophy", "Duchenne muscular dystrophy"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy"^^xsd:anyURI; "ORPHA:98896" . _:12e48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle."; "Orphanet:98896" . _:12e49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:11723"; "MONDO:equivalentTo" . _:12e4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0006291"; "MONDO:equivalentTo" . _:12e4bd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33506; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33506 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12e4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.0"; "NTBT (narrower term maps to a broader term)"@en . _:12e4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.0"; "MONDO:subClassOf", "ORDO:98896/inclusion", "ORDO:98896/ntbt", "Orphanet:98896" . _:12e4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:D020388"; "DOID:11723", "MONDO:equivalentTo", "ORDO:98896/e", "Orphanet:98896" . _:12e4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D020388"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10013801"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10013801"; "ORDO:98896/e", "Orphanet:98896" . _:12e52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C75482"; "DOID:11723", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12e53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:310200"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:310200"; "DOID:11723", "MONDO:equivalentTo", "ORDO:98896/e", "Orphanet:98896" . _:12e55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:76670001"; "DOID:11723", "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:12e56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013264"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0013264"; "DOID:11723", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C75482", "OMIM:310200", "ORDO:98896/e", "Orphanet:98896" . _:12e58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMD"; "MONDO:Lexical", "OMIM:310200", "Orphanet:98896" . _:12e59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duchenne muscular dystrophy"; "OMIM:310200" . _:12e5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duchenne muscular dystrophy"; rdfs:comment "preferred label from MONDO" . _:12e5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, Duchenne"; "DOID:11723", "MTHICD9_2006:359.1" . _:12e5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe dystrophinopathy, Duchenne type"; "Orphanet:98896" . _:12e5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, Duchenne type"; "MONDO:Lexical", "OMIM:310200" . _:12e5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, Duchenne type; DMD"; "OMIM:310200" . _:12e5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular dystrophy, pseudohypertrophic progressive, Duchenne type"; "OMIM:310200" . _:12e60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0006291" . _:12e61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98896" . _:12e62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy"^^xsd:anyURI; "GARD:0006291" . a owl:Class; rdfs:subClassOf , , ; , ; , ; "Actin myopathy"@en; "ICD-10:G71.2", "ICD10:G71.2", "MESH:C579880", "MONDO:0020342", "OMIM:161800", "UMLS:C1834336", "UMLS:C3711389"; "Actin myopathy", "actin myopathy", "congenital myopathy with excess of thin filaments"; "Orphanet:98904"; ; rdfs:label "Congenital myopathy with excess of thin filaments", "Congenital myopathy with excess of thin filaments"@en; "ORPHA:98904" . _:12e63d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33531; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33531 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "Attributed"@en . _:12e64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.2"; "NTBT (narrower term maps to a broader term)"@en . _:12e65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.2"; "ORDO:98904/attributed", "ORDO:98904/ntbt", "Orphanet:98904" . _:12e66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C579880"; "MONDO:equivalentTo", "MONDO:ontobio" . _:12e67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:161800"; "NTBT (narrower term maps to a broader term)"@en . _:12e68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1834336"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C3711389"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "actin myopathy"; "Orphanet:98904" . _:12e6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital myopathy with excess of thin filaments"; rdfs:comment "preferred label from MONDO" . _:12e6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98904" . a owl:Class; rdfs:subClassOf , , , , , , ; "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure."; , , , ; "Desmin-related myofibrillar myopathy"@en; "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure."@en; "orphanet"@en; "DOID:0080092", "ICD-10:G71.8", "ICD10:G71.8", "MONDO:0011076", "OMIM:601419", "UMLS:C1832370"; "DES myofibrillar myopathy (disease)", "Desmin-related myofibrillar myopathy", "desmin-related myofibrillar myopathy", "desminopathy", "myofibrillar myopathy (disease) caused by mutation in DES", "myofibrillar myopathy 1", "myofibrillar myopathy type 1", "myopathy, myofibrillar, type 1"; "CMD1F and LGMD1D", "CMD1F and LGMD1D, formerly", "IBM1", "MFM1", "arrhythmogenic right ventricular cardiomyopathy 7", "arrhythmogenic right ventricular cardiomyopathy 7, formerly", "arrhythmogenic right ventricular dysplasia, familial, 7", "arrhythmogenic right ventricular dysplasia, familial, 7, formerly", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly", "cardiomyopathy, dilated, with conduction defect and muscular dystrophy", "desmin-related myopathy", "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy", "desminopathy, primary", "inclusion body myopathy 1, autosomal dominant", "inclusion body myopathy 1, autosomal dominant, formerly", "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy", "myopathy, myofibrillar, 1", "myopathy, myofibrillar, 1; MFM1", "myopathy, myofibrillar, desmin-related"; "Orphanet:98909"; ; rdfs:label "Desminopathy", "Desminopathy"@en; "ORPHA:98909" . _:12e6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure."; "Orphanet:98909" . _:12e6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0080092"; "MONDO:equivalentTo" . _:12e6fd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33544; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33544 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.8"; "Attributed"@en . _:12e70d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G71.8"; "NTBT (narrower term maps to a broader term)"@en . _:12e71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G71.8"; "ORDO:98909/attributed", "ORDO:98909/ntbt", "Orphanet:98909" . _:12e72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601419"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601419"; "DOID:0080092", "MONDO:equivalentTo", "ORDO:98909/e", "Orphanet:98909" . _:12e74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832370"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12e75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832370"; "MEDGEN:kboom-pr87-c94", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:601419", "Orphanet:98909" . _:12e76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DES myofibrillar myopathy (disease)"; "MONDO:patterns/disease_series_by_gene" . _:12e77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "desmin-related myofibrillar myopathy"; "Orphanet:98909" . _:12e78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "desminopathy"; "DOID:0080092" . _:12e79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myofibrillar myopathy 1"; rdfs:comment "preferred label from MONDO" . _:12e7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myofibrillar myopathy type 1"; "DOID:0080092", "MONDORULE:1" . _:12e7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, myofibrillar, type 1"; "MONDORULE:1", "OMIM:601419" . _:12e7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMD1F and LGMD1D"; "OMIM:601419"; . _:12e7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMD1F and LGMD1D, formerly"; "OMIM:601419" . _:12e7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBM1"; "https://en.wikipedia.org/wiki/Hereditary_inclusion_body_myopathy"; . _:12e7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MFM1"; "MONDO:Lexical", "OMIM:601419" . _:12e80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic right ventricular cardiomyopathy 7"; "OMIM:601419" . _:12e81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic right ventricular cardiomyopathy 7, formerly"; "OMIM:601419" . _:12e82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic right ventricular dysplasia, familial, 7"; "OMIM:601419" . _:12e83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arrhythmogenic right ventricular dysplasia, familial, 7, formerly"; "OMIM:601419" . _:12e84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D"; "OMIM:601419" . _:12e85d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly"; "OMIM:601419" . _:12e86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cardiomyopathy, dilated, with conduction defect and muscular dystrophy"; "OMIM:601419" . _:12e87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "desmin-related myopathy"; "OMIM:601419" . _:12e88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy"; "OMIM:601419" . _:12e89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "desminopathy, primary"; "OMIM:601419" . _:12e8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy 1, autosomal dominant"; "OMIM:601419" . _:12e8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "inclusion body myopathy 1, autosomal dominant, formerly"; "OMIM:601419" . _:12e8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy"; "OMIM:601419" . _:12e8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, myofibrillar, 1"; "MONDO:Lexical", "OMIM:601419" . _:12e8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, myofibrillar, 1; MFM1"; "OMIM:601419" . _:12e8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "myopathy, myofibrillar, desmin-related"; "OMIM:601419" . _:12e90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:98909" . a owl:Class; rdfs:subClassOf , , , , , , ; "Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy."; , ; , , , ; "ADCA"@en, "Autosomal dominant spinocerebellar ataxia"@en; "Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy."@en; "orphanet", "orphanet"@en; "SCA", "spinocerebellar ataxia"; "DOID:1441", "GARD:0004346", "ICD-10:G11.8", "ICD10:G11.8", "ICD9:334.3", "MONDO:0020380", "OMIM:615957", "OMIM:616053", "OMIM:616410", "OMIM:617018", "OMIM:617691", "OMIMPS:164400", "SCTID:129609000", "UMLS:CN227858"; "ADCA", "Autosomal dominant spinocerebellar ataxia", "autosomal dominant cerebellar ataxia", "autosomal dominant spinocerebellar ataxia", "cerebellar ataxia, autosomal dominant"; "Pierre Marie cerebellar ataxia (formerly)"; "Orphanet:99"; , ; rdfs:label "Autosomal dominant cerebellar ataxia", "Autosomal dominant cerebellar ataxia"@en; "ORPHA:99" . _:12e91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy."; "Orphanet:99" . _:12e92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "spinocerebellar ataxia"; "DOID:1441" . _:12e93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:1441"; "MONDO:equivalentTo" . _:12e94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0004346"; "MONDO:equivalentTo" . _:12e95d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33583; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33583 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.8"; "Attributed"@en . _:12e96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G11.8"; "NTBT (narrower term maps to a broader term)"@en . _:12e97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G11.8"; "ORDO:99/attributed", "ORDO:99/ntbt", "Orphanet:99" . _:12e98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:334.3"; "DOID:1441", "MONDO:relatedTo", "i2s" . _:12e99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615957"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12e9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616053"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12e9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:616410"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12e9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617018"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12e9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617691"; "http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern" . _:12e9ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIMPS:164400"; "MONDO:equivalentTo" . _:12e9fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:129609000"; "DOID:1441", "MONDO:equivalentTo", "MONDO:kboom-pr-0.99/0.76/4.01" . _:12ea0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN227858"; "MONDO:equivalentTo" . _:12ea1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCA"; "GARD:0004346", "Orphanet:99" . _:12ea2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant cerebellar ataxia"; rdfs:comment "preferred label from MONDO" . _:12ea3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "autosomal dominant spinocerebellar ataxia"; "Orphanet:99" . _:12ea4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "cerebellar ataxia, autosomal dominant"; "MONDO:patterns/autosomal_dominant" . _:12ea5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pierre Marie cerebellar ataxia (formerly)"; "GARD:0004346" . _:12ea6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99" . a owl:Class; rdfs:subClassOf , , , ; "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome."; , , , , ; "Familial MTC"@en; "DOID:0050547", "ICD-10:C73", "ICD10:C73", "MESH:C536911", "MONDO:0007958", "MSH:C536911", "MeSH:C536911", "OMIM:155240", "UMLS:C1833921"; "Familial MTC", "familial MTC", "familial medullary thyroid carcinoma", "hereditary medullary thyroid gland carcinoma", "hereditary thyroid medullary carcinoma", "thyroid carcinoma, familial medullary"; "Fmtc", "MTC", "Mtc1", "thyroid carcinoma, familial medullary", "thyroid carcinoma, familial medullary; MTC"; "Orphanet:99361"; ; rdfs:label "Familial medullary thyroid carcinoma", "Familial medullary thyroid carcinoma"@en; "ORPHA:99361" . _:12ea7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome."; "MONDO:patterns/hereditary" . _:12ea8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0050547"; "MONDO:equivalentTo" . _:12ea9d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33604; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33604 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C73"; "Attributed"@en . _:12eaad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C73"; "NTBT (narrower term maps to a broader term)"@en . _:12eabd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:C73"; "ORDO:99361/attributed", "ORDO:99361/ntbt", "Orphanet:99361" . _:12eacd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C536911"; "MONDO:equivalentTo", "ORDO:99361/e", "Orphanet:99361" . _:12eadd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536911"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12eaed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155240"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12eafd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:155240"; "DOID:0050547", "MONDO:equivalentTo", "ORDO:99361/e", "Orphanet:99361" . _:12eb0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833921"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12eb1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833921"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:155240", "ORDO:99361/e", "Orphanet:99361" . _:12eb2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial MTC"; "Orphanet:99361" . _:12eb3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial medullary thyroid carcinoma"; rdfs:comment "preferred label from MONDO" . _:12eb4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary medullary thyroid gland carcinoma"; "MONDO:patterns/hereditary" . _:12eb5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary thyroid medullary carcinoma"; "MONDO:patterns/hereditary" . _:12eb6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid carcinoma, familial medullary"; "DOID:0050547" . _:12eb7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fmtc"; "OMIM:155240" . _:12eb8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTC"; "MONDO:Lexical", "OMIM:155240" . _:12eb9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mtc1"; "OMIM:155240" . _:12ebad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid carcinoma, familial medullary"; "MONDO:Lexical", "OMIM:155240" . _:12ebbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "thyroid carcinoma, familial medullary; MTC"; "OMIM:155240" . _:12ebcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99361" . a owl:Class; rdfs:subClassOf , ; "ICD-10:D35.2", "MedDRA:10035079", "UMLS:C0032000"; rdfs:label "Pituitary adenoma"@en; "ORPHA:99408" . _:12ebdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D35.2"; "NTBT (narrower term maps to a broader term)"@en . _:12ebed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10035079"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ebfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0032000"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , ; "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens."; ; , , , ; "CAIS"@en, "Complete androgen resistance syndrome"@en; "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens."@en; "orphanet", "orphanet"@en; "GARD:0010597", "ICD-10:E34.5", "ICD10:E34.5", "ICD10:E34.51", "MONDO:0021023", "NCIT:C120191", "OMIM:300068", "OMIM:300274", "SCTID:368851000119102", "UMLS:CN207337"; "CAIS", "Complete androgen resistance syndrome", "complete androgen insensitivity syndrome", "complete androgen resistance syndrome"; "androgen insensitivity syndrome, complete"; "Orphanet:99429"; , ; rdfs:label "Complete androgen insensitivity syndrome", "Complete androgen insensitivity syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome"^^xsd:anyURI; "ORPHA:99429" . _:12ec0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens."; "Orphanet:99429" . _:12ec1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010597"; "MONDO:equivalentTo" . _:12ec2d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33630; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33630 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.5"; "Attributed"@en . _:12ec3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E34.5"; "NTBT (narrower term maps to a broader term)"@en . _:12ec4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.5"; "ORDO:99429/attributed", "ORDO:99429/ntbt" . _:12ec5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E34.51"; "MONDO:equivalentTo" . _:12ec6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C120191"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/31.20" . _:12ec7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300068"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ec8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:300274"; "BTNT (broader term maps to a narrower term)"@en . _:12ec9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:368851000119102"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.91/29.66" . _:12ecad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207337"; "MONDO:equivalentTo" . _:12ecbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAIS"; "Orphanet:99429" . _:12eccd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complete androgen insensitivity syndrome"; rdfs:comment "preferred label from MONDO" . _:12ecdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "complete androgen resistance syndrome"; "Orphanet:99429" . _:12eced a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "androgen insensitivity syndrome, complete"; "GARD:0010597" . _:12ecfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010597" . _:12ed0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99429" . _:12ed1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome"^^xsd:anyURI; "GARD:0010597" . a owl:Class; rdfs:subClassOf , ; , , ; "MONDO:0020484", "MSH:D024741", "OMIM:608758", "UMLS:C0949658"; "Rare familial disorder with hypertrophic obstructive cardiomyopathy", "Rare familial disorder with hypertrophic subaortic stenosis", "rare familial disorder with hypertrophic cardiomyopathy", "rare familial disorder with hypertrophic obstructive cardiomyopathy", "rare familial disorder with hypertrophic subaortic stenosis"; "Orphanet:99739"; , ; rdfs:label "Rare familial disorder with hypertrophic cardiomyopathy"; rdfs:seeAlso "https://github.com/monarch-initiative/mondo/issues/254"^^xsd:anyURI . _:12ed2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare familial disorder with hypertrophic cardiomyopathy"; rdfs:comment "preferred label from MONDO" . _:12ed3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare familial disorder with hypertrophic obstructive cardiomyopathy"; "Orphanet:99739" . _:12ed4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare familial disorder with hypertrophic subaortic stenosis"; "Orphanet:99739" . _:12ed5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99739" . a owl:Class; rdfs:subClassOf , , ; "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients."; , , ; "Infantile agranulocytosis"@en, "Severe congenital neutropenia type 3"@en; "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients."@en; "orphanet"@en; "GARD:0000302", "ICD-10:D70", "ICD10:D70", "MONDO:0012548", "OMIM:115195", "OMIM:610738", "UMLS:CN032247"; "Infantile agranulocytosis", "Kostmann syndrome", "Severe congenital neutropenia type 3", "infantile agranulocytosis", "severe congenital neutropenia type 3"; "Kostmann disease", "SCN3", "agranulocytosis infantile", "agranulocytosis, infantile", "neutropenia, severe congenital, 3, autosomal recessive", "neutropenia, severe congenital, 3, autosomal recessive; SCN3", "severe congenital neutropenia autosomal recessive 3"; "Orphanet:99749"; ; rdfs:label "Kostmann syndrome", "Kostmann syndrome"@en; "ORPHA:99749" . _:12ed6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients."; "Orphanet:99749" . _:12ed7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0000302"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12ed8d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33653; owl:annotatedProperty ; owl:annotatedTarget "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33653 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "Inclusion term (The term is included under a ICD10 category and has not its own code)"@en . _:12ed9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D70"; "NTBT (narrower term maps to a broader term)"@en . _:12edad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D70"; "MONDO:subClassOf", "ORDO:99749/inclusion", "ORDO:99749/ntbt", "Orphanet:99749" . _:12edbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610738"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12edcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610738"; "MONDO:equivalentTo", "ORDO:99749/e", "Orphanet:99749" . _:12eddd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN032247"; "MONDO:equivalentTo", "NCBI:mim2gene_medline" . _:12eded a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kostmann syndrome"; rdfs:comment "preferred label from MONDO" . _:12edfd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infantile agranulocytosis"; "Orphanet:99749" . _:12ee0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia type 3"; "Orphanet:99749" . _:12ee1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kostmann disease"; "OMIM:610738" . _:12ee2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCN3"; "MONDO:Lexical", "OMIM:610738" . _:12ee3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agranulocytosis infantile"; "GARD:0000302" . _:12ee4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "agranulocytosis, infantile"; "OMIM:610738" . _:12ee5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia, severe congenital, 3, autosomal recessive"; "MONDO:Lexical", "OMIM:610738" . _:12ee6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "neutropenia, severe congenital, 3, autosomal recessive; SCN3"; "OMIM:610738" . _:12ee7d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "severe congenital neutropenia autosomal recessive 3"; "GARD:0000302" . _:12ee8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99749" . a owl:Class; rdfs:subClassOf , , , ; "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)."; ; , , , ; "Congenital central alveolar hypoventilation-Hirschsprung disease syndrome"@en, "Ondine-Hirschsprung disease"@en, "Ondine-Hirschsprung syndrome"@en; "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)."@en; "orphanet", "orphanet"@en; "ICD-10:G47.3", "ICD10:G47.3", "MONDO:0020493", "MSH:C536209", "MeSH:C536209", "OMIM:209880", "SCTID:719972004", "UMLS:C1859049", "UMLS:C1859587"; "Congenital central alveolar hypoventilation - Hirschsprung disease", "Haddad syndrome", "Ondine-Hirschsprung disease", "Ondine-Hirschsprung syndrome", "congenital central alveolar hypoventilation-Hirschsprung disease syndrome", "ondine-Hirschsprung disease", "ondine-Hirschsprung syndrome"; "Orphanet:99803"; ; rdfs:label "Haddad syndrome", "Haddad syndrome"@en; "ORPHA:99803" . _:12ee9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)."; "Orphanet:99803" . _:12eead a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33672; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G47.3"; "Attributed"@en . _:12eebd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:G47.3"; "NTBT (narrower term maps to a broader term)"@en . _:12eecd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:G47.3"; "MONDO:relatedTo", "ORDO:99803/attributed", "ORDO:99803/ntbt", "Orphanet:99803" . _:12eedd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536209"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12eeed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209880"; "NTBT (narrower term maps to a broader term)"@en . _:12eefd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:719972004"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.85/0.68/0.20" . _:12ef0d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1859049"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ef1d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1859587"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12ef2d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Haddad syndrome"; rdfs:comment "preferred label from MONDO" . _:12ef3d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "congenital central alveolar hypoventilation-Hirschsprung disease syndrome"; "Orphanet:99803" . _:12ef4d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ondine-Hirschsprung disease"; "Orphanet:99803" . _:12ef5d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ondine-Hirschsprung syndrome"; "Orphanet:99803" . _:12ef6d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99803" . a owl:Class; rdfs:subClassOf , , , ; , , , , ; "ICD-10:E05.8", "ICD10:E05.8", "ICD9:242.80", "ICD9:648.10", "MESH:C566384", "MONDO:0011309", "MSH:C566384", "MeSH:C566384", "OMIM:603373", "SCTID:703309000", "UMLS:C1863959"; "familial gestational hyperthyroidism"; "hyperthyroidism, familial gestational"; "Orphanet:99819"; ; rdfs:label "Familial gestational hyperthyroidism", "Familial gestational hyperthyroidism"@en; "ORPHA:99819" . _:12ef7d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33686; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33686 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E05.8"; "Attributed"@en . _:12ef8d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E05.8"; "NTBT (narrower term maps to a broader term)"@en . _:12ef9d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E05.8"; "ORDO:99819/attributed", "ORDO:99819/ntbt", "Orphanet:99819" . _:12efad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:242.80"; "MONDO:relatedTo", "i2s" . _:12efbd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD9:648.10"; "MONDO:relatedTo", "i2s" . _:12efcd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C566384"; "MONDO:equivalentTo", "MONDO:ontobio", "ORDO:99819/e", "Orphanet:99819" . _:12efdd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C566384"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12efed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603373"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12effd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:603373"; "MONDO:equivalentTo", "ORDO:99819/e", "Orphanet:99819" . _:12f00d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:703309000"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.85/15.45" . _:12f01d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1863959"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f02d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1863959"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:603373", "ORDO:99819/e", "Orphanet:99819" . _:12f03d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial gestational hyperthyroidism"; rdfs:comment "preferred label from MONDO" . _:12f04d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperthyroidism, familial gestational"; "OMIM:603373" . _:12f05d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99819" . a owl:Class; rdfs:subClassOf , , ; "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle."; , , , ; "GSD due to muscle beta-enolase deficiency"@en, "GSDXIII"@en, "Glycogenosis due to muscle beta-enolase deficiency"@en, "Glycogenosis type 13"@en, "Muscle enolase deficiency"@en, "Muscular enolase deficiency"@en; "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle."@en; "orphanet", "orphanet"@en; "GARD:0002125", "ICD-10:E74.0", "ICD10:E74.0", "MESH:C567861", "MONDO:0013046", "OMIM:612932", "UMLS:C2752027"; "GSD due to muscle beta-enolase deficiency", "GSDXIII", "Glycogenosis due to muscle beta-enolase deficiency", "Glycogenosis type 13", "Muscle enolase deficiency", "Muscular enolase deficiency", "glycogen storage disease due to muscle beta-enolase deficiency", "glycogen storage disease type 13", "glycogenosis due to muscle beta-enolase deficiency", "glycogenosis type 13", "muscle enolase deficiency", "muscular enolase deficiency"; "GSD 13", "GSD13", "enolase 3 deficiency", "enolase-Beta deficiency", "glycogen storage disease 13", "glycogen storage disease XIII", "glycogen storage disease XIII; GSD13"; "Orphanet:99849"; ; rdfs:label "Glycogen storage disease due to muscle beta-enolase deficiency", "Glycogen storage disease due to muscle beta-enolase deficiency"@en; "ORPHA:99849" . _:12f06d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle."; "Orphanet:99849" . _:12f07d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0002125"; "MONDO:equivalentTo", "OMIM-shared", "Orphanet-shared" . _:12f08d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33704; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33704 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "Attributed"@en . _:12f09d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E74.0"; "NTBT (narrower term maps to a broader term)"@en . _:12f0ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E74.0"; "MONDO:subClassOf", "ORDO:99849/attributed", "ORDO:99849/ntbt", "Orphanet:99849" . _:12f0bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C567861"; "MONDO:equivalentTo", "MONDO:ontobio" . _:12f0cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612932"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f0dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:612932"; "MONDO:equivalentTo", "ORDO:99849/e", "Orphanet:99849" . _:12f0ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2752027"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f0fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2752027"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "NCBI:mim2gene_medline", "OMIM:612932", "Orphanet:99849" . _:12f10d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD due to muscle beta-enolase deficiency"; "Orphanet:99849" . _:12f11d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSDXIII"; "Orphanet:99849" . _:12f12d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease due to muscle beta-enolase deficiency"; rdfs:comment "preferred label from MONDO" . _:12f13d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease type 13"; "MONDORULE:2", "OMIM:612932" . _:12f14d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis due to muscle beta-enolase deficiency"; "Orphanet:99849" . _:12f15d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogenosis type 13"; "Orphanet:99849" . _:12f16d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscle enolase deficiency"; "Orphanet:99849" . _:12f17d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "muscular enolase deficiency"; "Orphanet:99849" . _:12f18d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD 13"; "OMIM:612932" . _:12f19d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSD13"; "MONDO:Lexical", "OMIM:612932" . _:12f1ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "enolase 3 deficiency"; "OMIM:612932" . _:12f1bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "enolase-Beta deficiency"; "OMIM:612932" . _:12f1cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease 13"; "GARD:0002125", "OMIM:612932" . _:12f1dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease XIII"; "MONDO:Lexical", "OMIM:612932" . _:12f1ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "glycogen storage disease XIII; GSD13"; "OMIM:612932" . _:12f1fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99849" . a owl:Class; rdfs:subClassOf ; "B-ALL"@en, "Precursor B-cell acute lymphoblastic leukemia/lymphoma"@en, "Precursor B-cell acute lymphocytic leukemia"@en, "Precursor B-cell acute lymphocytic leukemia/lymphoma"@en; "ICD-10:C83.5", "ICD-10:C91.0", "OMIM:615545", "UMLS:C0006413", "UMLS:C1292769"; rdfs:label "Precursor B-cell acute lymphoblastic leukemia"@en; "ORPHA:99860" . _:12f20d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C83.5"; "NTBT (narrower term maps to a broader term)"@en . _:12f21d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C91.0"; "NTBT (narrower term maps to a broader term)"@en . _:12f22d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:615545"; "BTNT (broader term maps to a narrower term)"@en . _:12f23d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0006413"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f24d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1292769"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Primary thymic epithelial neoplasm"@en, "Primary thymic epithelial tumor"@en; "Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland."@en; "orphanet"@en; "ICD-10:D15.0", "ICD-10:D38.4", "MeSH:D013945", "MedDRA:10043670", "OMIM:274230", "UMLS:C0040100"; rdfs:label "Thymoma"@en; "ORPHA:99867" . _:12f25d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D15.0"; "NTBT (narrower term maps to a broader term)"@en . _:12f26d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D38.4"; "BTNT (broader term maps to a narrower term)"@en . _:12f27d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D013945"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f28d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedDRA:10043670"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f29d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:274230"; "BTNT (broader term maps to a narrower term)"@en . _:12f2ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0040100"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors."; , , ; "FIHPT"@en; "A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations."@en; "orphanet"@en; "ICD-10:E21.0", "ICD10:E21.0", "MONDO:0015027", "NCIT:C94830", "OMIM:145000", "OMIM:610071", "OMIM:617343", "UMLS:CN207422"; "FIHP", "FIHPT", "familial isolated hyperparathyroidism", "hyperparathyroidism type 4"; "Orphanet:99879"; ; rdfs:label "Familial isolated hyperparathyroidism", "Familial isolated hyperparathyroidism"@en; "ORPHA:99879" . _:12f2bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors."; "NCIT:C94830" . _:12f2cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33741; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33741 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "Attributed"@en . _:12f2dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "NTBT (narrower term maps to a broader term)"@en . _:12f2ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E21.0"; "ORDO:99879/attributed", "ORDO:99879/ntbt", "Orphanet:99879" . _:12f2fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C94830"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.90/0.78/0.35" . _:12f30d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145000"; "BTNT (broader term maps to a narrower term)"@en . _:12f31d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610071"; "BTNT (broader term maps to a narrower term)"@en . _:12f32d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:617343"; "BTNT (broader term maps to a narrower term)"@en . _:12f33d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:CN207422"; "MEDGEN:kboom-pr98-c99", "MONDO:equivalentTo" . _:12f34d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIHP"; "NCIT:C94830" . _:12f35d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIHPT"; "Orphanet:99879" . _:12f36d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial isolated hyperparathyroidism"; "NCIT:C94830" . _:12f37d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial isolated hyperparathyroidism"; rdfs:comment "preferred label from MONDO" . _:12f38d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism type 4"; "MONDORULE:1", "OMIM:617343" . _:12f39d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99879" . a owl:Class; rdfs:subClassOf , , , ; "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts."; ; , , , , ; "HPT-JT"@en; "GARD:0010829", "ICD-10:E21.0", "ICD10:E21.0", "MONDO:0007768", "NCIT:C48287", "OMIM:145001", "SCTID:702378002", "UMLS:C1704981"; "HPT-JT", "hyperparathyroidism type 2", "hyperparathyroidism-2", "hyperparathyroidism-jaw tumor syndrome"; "HRPT2", "familial primary hyperparathyroidism with multiple ossifying jaw fibromas", "hereditary hyperparathyroidism-jaw tumor syndrome", "hyperparathyroidism 2", "hyperparathyroidism 2 with jaw tumors", "hyperparathyroidism 2 with jaw tumors; HRPT2", "hyperparathyroidism 2; HRPT2", "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas", "hyperparathyroidism-jaw tumor syndrome, hereditary", "parathyroid adenomatosis, familial cystic"; "Orphanet:99880"; , ; rdfs:label "Hyperparathyroidism-jaw tumor syndrome", "Hyperparathyroidism-jaw tumor syndrome"@en; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome"^^xsd:anyURI; "ORPHA:99880" . _:12f3ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts."; "NCIT:P378" . _:12f3bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010829"; "MONDO:equivalentTo" . _:12f3cd a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33758; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33758 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "Attributed"@en . _:12f3dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E21.0"; "NTBT (narrower term maps to a broader term)"@en . _:12f3ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:E21.0"; "ORDO:99880/attributed", "ORDO:99880/ntbt", "Orphanet:99880" . _:12f3fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C48287"; "MONDO:equivalentTo", "exact-label-match" . _:12f40d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145001"; "NTBT (narrower term maps to a broader term)"@en . _:12f41d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:145001"; "MONDO:equivalentTo", "ORDO:99880/e", "Orphanet:99880" . _:12f42d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:702378002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12f43d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1704981"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f44d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1704981"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C48287", "OMIM:145001", "Orphanet:99880" . _:12f45d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPT-JT"; "NCIT:C48287", "Orphanet:99880" . _:12f46d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism type 2"; "MONDORULE:1", "OMIM:145001" . _:12f47d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism-2"; "NCIT:C48287" . _:12f48d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism-jaw tumor syndrome"; "NCIT:C48287" . _:12f49d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism-jaw tumor syndrome"; rdfs:comment "preferred label from MONDO" . _:12f4ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HRPT2"; "MONDO:Lexical", "OMIM:145001" . _:12f4bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "familial primary hyperparathyroidism with multiple ossifying jaw fibromas"; "GARD:0010829" . _:12f4cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hereditary hyperparathyroidism-jaw tumor syndrome"; "GARD:0010829" . _:12f4dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism 2"; "GARD:0010829", "MONDO:Lexical", "OMIM:145001" . _:12f4ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism 2 with jaw tumors"; "OMIM:145001" . _:12f4fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism 2 with jaw tumors; HRPT2"; "OMIM:145001" . _:12f50d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism 2; HRPT2"; "OMIM:145001" . _:12f51d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas"; "OMIM:145001" . _:12f52d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hyperparathyroidism-jaw tumor syndrome, hereditary"; "OMIM:145001" . _:12f53d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "parathyroid adenomatosis, familial cystic"; "OMIM:145001" . _:12f54d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010829" . _:12f55d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99880" . _:12f56d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome"^^xsd:anyURI; "GARD:0010829" . a owl:Class; rdfs:subClassOf ; "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment."; ; , , , , , ; "orphanet"; "DOID:0060639", "GARD:0010457", "ICD10:P70.2", "MONDO:0011643", "NCIT:C114902", "OMIM:606176", "SCTID:609565001", "UMLS:C1833104"; "Monogenic diabetes of infancy", "PDMI", "PNDM", "monogenic diabetes of infancy", "permanent diabetes mellitus of infancy", "permanent neonatal diabetes mellitus"; "developmental delay, epilepsy, and neonatal diabetes", "diabetes mellitus, permanent neonatal", "diabetes mellitus, permanent neonatal, with neurologic features", "diabetes mellitus, permanent neonatal; PNDM", "diabetes mellitus, permanent, of infancy"; "Orphanet:99885"; , ; rdfs:label "Permanent neonatal diabetes mellitus"; rdfs:seeAlso "https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus"^^xsd:anyURI . _:12f57d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment."; "Orphanet:99885" . _:12f58d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060639"; "MONDO:equivalentTo" . _:12f59d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0010457"; "MONDO:equivalentTo" . _:12f5ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:P70.2"; "MONDO:subClassOf", "ORDO:99885/attributed", "ORDO:99885/ntbt", "Orphanet:99885" . _:12f5bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C114902"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.94/0.86/0.20" . _:12f5cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:606176"; "DOID:0060639", "MONDO:equivalentTo", "ORDO:99885/e", "Orphanet:99885" . _:12f5dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:609565001"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12f5ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1833104"; "MONDO:equivalentTo", "NCBI:mim2gene_medline", "NCIT:C114902", "OMIM:606176", "Orphanet:99885" . _:12f5fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PDMI"; "DOID:0060639" . _:12f60d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNDM"; "DOID:0060639", "MONDO:Lexical", "OMIM:606176", "Orphanet:99885" . _:12f61d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "monogenic diabetes of infancy"; "Orphanet:99885" . _:12f62d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "permanent diabetes mellitus of infancy"; "DOID:0060639" . _:12f63d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "permanent neonatal diabetes mellitus"; rdfs:comment "preferred label from MONDO" . _:12f64d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "developmental delay, epilepsy, and neonatal diabetes"; "OMIM:606176" . _:12f65d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, permanent neonatal"; "MONDO:Lexical", "OMIM:606176" . _:12f66d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, permanent neonatal, with neurologic features"; "OMIM:606176" . _:12f67d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, permanent neonatal; PNDM"; "OMIM:606176" . _:12f68d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, permanent, of infancy"; "OMIM:606176" . _:12f69d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "GARD:0010457" . _:12f6ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99885" . _:12f6bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:seeAlso; owl:annotatedTarget "https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus"^^xsd:anyURI; "GARD:0010457" . a owl:Class; rdfs:subClassOf , ; "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients."; , ; , , , ; "TNDM"@en; "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients."@en; "orphanet", "orphanet"@en; "DOID:0060334", "GARD:0001839", "HP:0008255", "ICD-10:P70.2", "ICD10:P70.2", "MONDO:0020525", "NCIT:C114899", "OMIM:601410", "OMIM:610374", "OMIM:610582", "SCTID:237603002", "UMLS:C1832386"; "TNDM", "transient neonatal diabetes mellitus", "transient neonatal diabetes mellitus (disease)"; "chromosome 6-associated transient diabetes mellitus", "diabetes mellitus, 6q24-related transient neonatal", "diabetes mellitus, transient neonatal"; "Orphanet:99886"; ; rdfs:label "Transient neonatal diabetes mellitus", "Transient neonatal diabetes mellitus"@en; "ORPHA:99886" . _:12f6cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients."; "Orphanet:99886" . _:12f6dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOID:0060334"; "MONDO:equivalentTo" . _:12f6ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0001839"; "MONDO:equivalentTo", "Orphanet-shared" . _:12f6fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HP:0008255"; "MONDO:otherHierarchy", "ontobio" . _:12f70d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33811; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33811 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:P70.2"; "Attributed"@en . _:12f71d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:P70.2"; "NTBT (narrower term maps to a broader term)"@en . _:12f72d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:P70.2"; "DOID:0060334", "MONDO:subClassOf", "ORDO:99886/attributed", "ORDO:99886/ntbt", "Orphanet:99886" . _:12f73d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCIT:C114899"; "MONDO:equivalentTo", "MONDO:kboom-pr-0.92/0.83/0.08" . _:12f74d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:601410"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f75d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610374"; "BTNT (broader term maps to a narrower term)"@en . _:12f76d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:610582"; "BTNT (broader term maps to a narrower term)"@en . _:12f77d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCTID:237603002"; "MONDO:equivalentTo", "MONDO:kboom-pr-1.00/0.92/29.66" . _:12f78d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C1832386"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f79d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TNDM"; "Orphanet:99886" . _:12f7ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transient neonatal diabetes mellitus"; "MONDO:ambiguous" . _:12f7bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "transient neonatal diabetes mellitus (disease)"; rdfs:comment "preferred label from MONDO" . _:12f7cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "chromosome 6-associated transient diabetes mellitus"; "GARD:0001839" . _:12f7dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, 6q24-related transient neonatal"; "GARD:0001839" . _:12f7ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diabetes mellitus, transient neonatal"; "GARD:0001839" . _:12f7fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99886" . a owl:Class; rdfs:subClassOf , , ; "ACTH-dependent CS"@en, "Adrenocorticotropic hormone-dependent Cushing syndrome"@en, "Corticotropin-dependent Cushing syndrome"@en; "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS (see this term) caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS; see these terms) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)."@en; "orphanet"@en; "ICD-10:E24.0", "UMLS:C0342442"; rdfs:label "ACTH-dependent Cushing syndrome"@en; "ORPHA:99892" . _:12f80d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.0"; "NTBT (narrower term maps to a broader term)"@en . _:12f81d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0342442"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf , , ; "Adrenal Cushing syndrome"@en, "Adrenocorticotropic hormone-independent Cushing syndrome"@en, "Corticotropin-independent Cushing syndrome"@en; "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS; see this term) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC; see these terms)."@en; "orphanet"@en; "ICD-10:E24.8"; rdfs:label "ACTH-independent Cushing syndrome"@en; "ORPHA:99893" . _:12f82d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E24.8"; "NTBT (narrower term maps to a broader term)"@en . a owl:Class; rdfs:subClassOf , , ; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).", "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."; , , ; "MSMD due to complete IFNgammaR1 deficiency"@en, "MSMD due to complete interferon gamma receptor 1 deficiency"@en, "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency"@en; "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."@en; "orphanet", "orphanet"@en; "GARD:0003011", "ICD-10:D84.8", "ICD10:D84.8", "MESH:C535530", "MONDO:0020530", "MSH:C535530", "MeSH:C535530", "OMIM:209950", "UMLS:C2930924"; "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "MSMD due to complete IFNgammaR1 deficiency", "MSMD due to complete interferon gamma receptor 1 deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1", "mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"; "IFNGR1 deficiency", "interferon gamma, receptor 1, deficiency"; "Orphanet:99898"; , ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"@en; "ORPHA:99898" . _:12f83d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."; "Orphanet:99898" . _:12f84d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD:0003011"; "MONDO:equivalentTo", "shared-umls-xref" . _:12f85d a owl:Annotation; owl:annotatedSource _:genid-371333f489424440b12a13b9d98ced822604-genid33833; owl:annotatedProperty ; owl:annotatedTarget "Attributed"@en; "NTBT (narrower term maps to a broader term)"@en . _:genid-371333f489424440b12a13b9d98ced822604-genid33833 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "Attributed"@en . _:12f86d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:D84.8"; "NTBT (narrower term maps to a broader term)"@en . _:12f87d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD10:D84.8"; "ORDO:99898/attributed", "ORDO:99898/ntbt", "Orphanet:99898" . _:12f88d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESH:C535530"; "MONDO:equivalentTo", "ORDO:99898/e", "Orphanet:99898" . _:12f89d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C535530"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f8ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:209950"; "NTBT (narrower term maps to a broader term)"@en . _:12f8bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2930924"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f8cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C2930924"; "MEDGEN:kboom-pr92-c96", "MONDO:equivalentTo", "ORDO:99898/e", "Orphanet:99898" . _:12f8dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"; "MONDO:patterns/disease_series_by_gene" . _:12f8ed a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete IFNgammaR1 deficiency"; "Orphanet:99898" . _:12f8fd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSMD due to complete interferon gamma receptor 1 deficiency"; "Orphanet:99898" . _:12f90d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency"; "Orphanet:99898" . _:12f91d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"; rdfs:comment "preferred label from MONDO" . _:12f92d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFNGR1 deficiency"; "GARD:0003011" . _:12f93d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "interferon gamma, receptor 1, deficiency"; "GARD:0003011" . _:12f94d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "Orphanet:99898" . a owl:Class; rdfs:subClassOf ; "Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients."@en; "orphanet"@en; "ICD-10:E83.1+", "ICD-10:J99.8*", "MeSH:C536281", "OMIM:178550", "OMIM:235500", "UMLS:C0020807"; rdfs:label "Idiopathic pulmonary hemosiderosis"@en; "ORPHA:99931" . _:12f95d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:E83.1+"; "NTBT (narrower term maps to a broader term)"@en . _:12f96d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:J99.8*"; "NTBT (narrower term maps to a broader term)"@en . _:12f97d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:C536281"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f98d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:178550"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f99d a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMIM:235500"; "BTNT (broader term maps to a narrower term)"@en . _:12f9ad a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0020807"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "Hilar CCA"@en, "Hilar cholangiocarcinoma"@en; "Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct."@en; "orphanet"@en; "ICD-10:C24.0", "MeSH:D018285", "UMLS:C0206702"; rdfs:label "Klatskin tumor"@en; "ORPHA:99978" . _:12f9bd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICD-10:C24.0"; "NTBT (narrower term maps to a broader term)"@en . _:12f9cd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSH:D018285"; "E (exact mapping (the terms and the concepts are equivalent))"@en . _:12f9dd a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLS:C0206702"; "E (exact mapping (the terms and the concepts are equivalent))"@en . a owl:Class; rdfs:subClassOf ; "A set of phenotypic abnormalities."@en; rdfs:label "clinical entity"@en . a owl:Class; rdfs:subClassOf ; "Age of onset of clinical manifestations related to a clinical entity."@en; rdfs:label "age of onset"@en . a owl:Class; rdfs:subClassOf , _:12f9ed; "A concept is term that refers to a generalization of a set of attributes or entities.", "This can be viewed as an idea or notion; a unit of thought. However, what constitutes a unit of thought is subjective, and this definition is meant to be suggestive, rather than restrictive. The notion of a SKOS concept is useful when describing the conceptual or intellectual structure of a knowledge organization system, and when referring to specific ideas or meanings established within a KOS."; "SIO:000326"; "Olamidipupo Ajigboye"; rdfs:label "concept" . _:12f9ed a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf ; """Concept scheme can be viewed as an aggregation of one or more SKOS concepts. Semantic relationships (links) between those concepts may also be viewed as part of a concept scheme. This definition is, however, meant to be suggestive rather than restrictive, and there is some flexibility in the formal data model stated below. The notion of a concept scheme is useful when dealing with data from an unknown source, and when dealing with data that describes two or more different knowledge organization systems."""; "Olamidipupo Ajigboye"; rdfs:label "concept scheme" . a owl:Class; rdfs:subClassOf , _:12f9fd; "The Organization class represents a kind of Agent corresponding to social instititutions such as companies, societies etc."; "Olamidipupo Ajigboye"; rdfs:label "organisation" . _:12f9fd a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf ; "Individual, Person"; "Olamidipupo Ajigboye"; rdfs:label "person"; rdfs:seeAlso . a owl:Class; rdfs:subClassOf , _:12fa0d; "A catalog is a systemic collection of items of the same type.", "A data catalog is a curated collection of metadata about datasets."; "registry"; "SIO:001241"; "Olamidipupo Ajigboye"; rdfs:comment "Typically, a web-based data catalog is represented as a single instance of this class."; rdfs:label "catalog" . _:12fa0d a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf , _:12fa1d; "A collection of data, published or curated by a single agent, and available for access or download in one or more formats."; "Olamidipupo Ajigboye"; rdfs:comment "This class represents the actual dataset as published by the dataset publisher. In cases where a distinction between the actual dataset and its entry in the catalog is necessary (because metadata such as modification date and maintainer might differ), the catalog record class can be used for the latter."; rdfs:label "Dataset" . _:12fa1d a owl:Restriction; owl:onProperty ; owl:someValuesFrom .