PREFIX ordo: PREFIX rdf: PREFIX rdfs: PREFIX xsd: a rdfs:Class ; rdfs:label "COL4A1 or COL4A2-related cerebral small vessel disease" ; rdfs:subClassOf . ordo:Orphanet_238666 a rdfs:Class ; rdfs:label "Isolated congenital hypogonadotropic hypogonadism" ; rdfs:comment "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_174590 , ordo:Orphanet_399839 . ordo:Orphanet_104010 a rdfs:Class ; rdfs:label "Intestinal polyposis syndrome"@en ; rdfs:subClassOf ordo:Orphanet_425003 . ordo:Orphanet_97286 a rdfs:Class ; rdfs:label "Carney-Stratakis syndrome" ; rdfs:comment "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." ; rdfs:subClassOf ordo:Orphanet_100094 , ordo:Orphanet_140162 , ordo:Orphanet_377788 . ordo:Orphanet_182043 a rdfs:Class ; rdfs:label "Rare constitutional hemolytic anemia" ; rdfs:subClassOf ordo:Orphanet_183651 . ordo:Orphanet_797 a rdfs:Class ; rdfs:label "Sarcoidosis" ; rdfs:comment "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." ; rdfs:subClassOf ordo:Orphanet_377788 , , , . ordo:Orphanet_183422 a rdfs:Class ; rdfs:label "Polymalformative genetic syndrome with increased risk of developing cancer" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_140162 . ordo:Orphanet_33 a rdfs:Class ; rdfs:label "Isovaleric acidemia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79163 . ordo:Orphanet_290836 a rdfs:Class ; rdfs:label "Systemic disease with skin involvement"@en ; rdfs:subClassOf ordo:Orphanet_89826 . ordo:Orphanet_391711 a rdfs:Class ; rdfs:label "Persistent combined dystonia" ; rdfs:subClassOf ordo:Orphanet_98203 . ordo:Orphanet_400022 a rdfs:Class ; rdfs:label "Rare female infertility due to an anomaly of ovarian function of genetic origin" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_400011 , , . a rdfs:Class ; rdfs:label "osteochondrodysplasia" ; rdfs:comment "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." ; rdfs:subClassOf . ordo:Orphanet_220452 a rdfs:Class ; rdfs:label "Inherited giant platelet disorder" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "abnormality of metabolism/homeostasis" ; rdfs:subClassOf . ordo:Orphanet_79358 a rdfs:Class ; rdfs:label "Porokeratosis"@en ; rdfs:subClassOf ordo:Orphanet_79353 . a rdfs:Class ; rdfs:label "genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" ; rdfs:comment "An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf , , ordo:Orphanet_183533 , ordo:Orphanet_71859 . a rdfs:Class ; rdfs:label "pancreatic exocrine neoplasm" ; rdfs:comment "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." ; rdfs:subClassOf . ordo:Orphanet_224 a rdfs:Class ; rdfs:label "Neonatal diabetes mellitus" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183625 . ordo:Orphanet_178025 a rdfs:Class ; rdfs:label "Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" ; rdfs:subClassOf ordo:Orphanet_467 . ordo:Orphanet_217572 a rdfs:Class ; rdfs:label "Glycogen storage disease with hypertrophic cardiomyopathy" ; rdfs:subClassOf ordo:Orphanet_99739 . ordo:Orphanet_101039 a rdfs:Class ; rdfs:label "Female restricted epilepsy with intellectual disability" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_2076 , ordo:Orphanet_377788 . ordo:Orphanet_139393 a rdfs:Class ; rdfs:label "Syndromic craniosynostosis" ; rdfs:comment "A craniosynostosis that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_1531 , . ordo:Orphanet_79477 a rdfs:Class ; rdfs:label "Griscelli disease type 2" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183494 , ordo:Orphanet_331184 , ordo:Orphanet_331249 , ordo:Orphanet_377796 , ordo:Orphanet_381 . a rdfs:Class ; rdfs:label "gonadal disease" ; rdfs:comment "A non-neoplastic or neoplastic disorder that affects the testis or the ovary." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "familial cardiomyopathy" ; rdfs:comment "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf , . ordo:Orphanet_331223 a rdfs:Class ; rdfs:label "Hyper-IgE syndrome" ; rdfs:comment "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." ; rdfs:subClassOf ordo:Orphanet_331217 , , . ordo:Orphanet_3447 a rdfs:Class ; rdfs:label "Weaver syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , ordo:Orphanet_93460 , , . a rdfs:Class ; rdfs:label "Registry of Ollier Disease and Maffucci Syndrome"@en ; rdfs:comment "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." ; rdfs:subClassOf . a rdf:Property ; rdfs:range . a rdf:Property ; rdfs:range . a rdfs:Class ; rdfs:label "exostosis" ; rdfs:comment "Non-neoplastic overgrowth of bone." ; rdfs:subClassOf . ordo:Orphanet_404574 a rdfs:Class ; rdfs:label "Genetic syndrome with limb reduction defects" ; rdfs:subClassOf ordo:Orphanet_404571 , ordo:Orphanet_404577 . ordo:Orphanet_519284 a rdfs:Class ; rdfs:label "Rare disorder of the anterior segment of the eye"@en ; rdfs:subClassOf ordo:Orphanet_520814 . a rdfs:Class ; rdfs:label "rare renal tubular disease" ; rdfs:comment "Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction." ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_364803 a rdfs:Class ; rdfs:label "Rare bone disease related to a common gene or pathway defect" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183524 . ordo:Orphanet_98375 a rdfs:Class ; rdfs:label "Autoimmune hemolytic anemia"@en ; rdfs:subClassOf ordo:Orphanet_182047 . ordo:Orphanet_183533 a rdfs:Class ; rdfs:label "Genetic multiple congenital anomalies/dysmorphic syndrome" ; rdfs:comment "An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183530 , . a rdfs:Class ; rdfs:label "nevus" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "peroxisomal disease with epilepsy" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Reproductive System Finding" ; rdfs:comment "Symptoms, physical examination results, and/or laboratory test results related to the reproductive system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "cor pulmonale" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_955 a rdfs:Class ; rdfs:label "Acroosteolysis dominant type" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93547 , , , . ordo:Orphanet_276598 a rdfs:Class ; rdfs:label "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency" ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79298 , . ordo:Orphanet_3186 a rdfs:Class ; rdfs:label "Holoprosencephaly - radial heart renal anomalies" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , , . a rdfs:Class ; rdfs:label "mendelian susceptibility to mycobacterial diseases due to a complete deficiency" ; rdfs:subClassOf ordo:Orphanet_748 . a rdfs:Class ; rdfs:label "genetic disorder" ; rdfs:comment "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "urogenital neoplasm" ; rdfs:comment "Tumors or cancer of the urogenital system in either the male or the female." ; rdfs:subClassOf , . ordo:Orphanet_98729 a rdfs:Class ; rdfs:label "Congenital pulmonary veins anomaly"@en ; rdfs:subClassOf ordo:Orphanet_363189 . ordo:Orphanet_98620 a rdfs:Class ; rdfs:label "Syndromic myopia" ; rdfs:comment "A myopia (disease) that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183601 , , , . ordo:Orphanet_391311 a rdfs:Class ; rdfs:label "Susceptibility to viral and mycobacterial infections" ; rdfs:subClassOf ordo:Orphanet_183710 . ordo:Orphanet_156622 a rdfs:Class ; rdfs:label "Genetic urogenital tract malformation" ; rdfs:subClassOf ordo:Orphanet_156619 , . ordo:Orphanet_52662 a rdfs:Class ; rdfs:label "Rare teratologic disease"@en ; rdfs:subClassOf ordo:Orphanet_93890 . ordo:Orphanet_518 a rdfs:Class ; rdfs:label "Acute megakaryoblastic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_247698 a rdfs:Class ; rdfs:label "Multiple endocrine neoplasia type 2A" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_247709 . ordo:Orphanet_280183 a rdfs:Class ; rdfs:label "Methylmalonic aciduria due to transcobalamin receptor defect" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377790 , ordo:Orphanet_79171 , . ordo:Orphanet_540 a rdfs:Class ; rdfs:label "Familial hemophagocytic lymphohistiocytosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_158038 , ordo:Orphanet_377788 , ordo:Orphanet_71859 , . a rdfs:Class ; rdfs:label "developmental defect during embryogenesis" ; rdfs:comment "A disease that has its basis in the disruption of embryonic morphogenesis." ; rdfs:subClassOf , . ordo:Orphanet_183557 a rdfs:Class ; rdfs:label "Genetic developmental defect of the eye" ; rdfs:subClassOf ordo:Orphanet_101435 , ordo:Orphanet_183530 , . ordo:Orphanet_95494 a rdfs:Class ; rdfs:label "Combined pituitary hormone deficiencies, genetic forms" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_178025 , ordo:Orphanet_181390 , ordo:Orphanet_377788 , ordo:Orphanet_71859 , . a rdfs:Class ; rdfs:label "disorder of fatty acid oxidation and ketogenesis" ; rdfs:subClassOf , ordo:Orphanet_79174 . a rdfs:Class ; rdfs:label "Unit by Category" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "thyroid carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "cancer" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_857 a rdfs:Class ; rdfs:label "Townes-Brocks syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_156202 , ordo:Orphanet_183576 , ordo:Orphanet_294959 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , ordo:Orphanet_93547 , . a rdfs:Class ; rdfs:label "Birth Weight" ; rdfs:comment "The first weight of a newborn obtained after birth." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "progeroid syndrome" ; rdfs:comment "a group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are." ; rdfs:subClassOf , ordo:Orphanet_79389 . ordo:Orphanet_738 a rdfs:Class ; rdfs:label "Porphyria" ; rdfs:comment "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." ; rdfs:subClassOf ordo:Orphanet_183490 , ordo:Orphanet_309813 , ordo:Orphanet_79387 , ordo:Orphanet_79390 , ordo:Orphanet_93593 , . a rdfs:Class ; rdfs:label "anemia" ; rdfs:comment "A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin." ; rdfs:subClassOf . ordo:Orphanet_175 a rdfs:Class ; rdfs:label "Cartilage-hair hypoplasia" ; rdfs:comment "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_169349 , ordo:Orphanet_377788 , ordo:Orphanet_79373 , ordo:Orphanet_93430 , . ordo:Orphanet_183500 a rdfs:Class ; rdfs:label "Genetic neurodegenerative disease" ; rdfs:comment "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." ; rdfs:subClassOf ordo:Orphanet_71859 , . a rdfs:Class ; rdfs:label "body height" ; rdfs:comment "The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "polyp" ; rdfs:comment "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" ; rdfs:subClassOf . ordo:Orphanet_331184 a rdfs:Class ; rdfs:label "Constitutional neutropenia with extra-haematopoietic manifestations" ; rdfs:subClassOf ordo:Orphanet_101987 . a rdfs:Class ; rdfs:label "abdominal and pelvic region disorder" ; rdfs:comment "A disease or disorder that involves the abdominal segment of trunk." ; rdfs:subClassOf . ordo:Orphanet_64742 a rdfs:Class ; rdfs:label "Pleuropulmonary blastoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98662 a rdfs:Class ; rdfs:label "Unclassified familial retinal dystrophy" ; rdfs:subClassOf ordo:Orphanet_71862 . ordo:Orphanet_182054 a rdfs:Class ; rdfs:label "Rare thrombotic disease of hematologic origin"@en ; rdfs:subClassOf ordo:Orphanet_98429 . a rdfs:Class ; rdfs:label "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:subClassOf . a rdfs:Class ; rdfs:label "body weights and measures" ; rdfs:comment "Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." ; rdfs:subClassOf . ordo:Orphanet_68402 a rdfs:Class ; rdfs:label "Rare parkinsonian disorder"@en ; rdfs:subClassOf ordo:Orphanet_102003 . ordo:Orphanet_98668 a rdfs:Class ; rdfs:label "Vitreoretinopathy" ; rdfs:subClassOf ordo:Orphanet_98657 . a rdfs:Class ; rdfs:label "Legal" ; rdfs:comment "To meet the requirements under law; not in violation of law or anything related to the law." ; rdfs:subClassOf . ordo:Orphanet_98033 a rdfs:Class ; rdfs:label "Rare neurologic disease with psychiatric involvement"@en ; rdfs:subClassOf ordo:Orphanet_98006 . a rdfs:Class ; rdfs:label "mineral metabolism disease" ; rdfs:comment "Abnormal levels of minerals in the blood." ; rdfs:subClassOf . ordo:Orphanet_36258 a rdfs:Class ; rdfs:label "Buerger disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "autosomal recessive congenital ichthyosis 4A" ; rdfs:comment "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." ; rdfs:subClassOf ordo:Orphanet_313 . ordo:Orphanet_309813 a rdfs:Class ; rdfs:label "Disorder of porphyrin and haem metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." ; rdfs:subClassOf ordo:Orphanet_68367 , . ordo:Orphanet_370 a rdfs:Class ; rdfs:label "Glycogen storage disease due to phosphorylase kinase deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_79201 , . a rdfs:Class ; rdfs:label "brain neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "digestive system disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_314769 a rdfs:Class ; rdfs:label "Somatomammotropinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "benign neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "vasculitis" ; rdfs:comment "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." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "vitamin deficiency" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "epithelial skin neoplasm" ; rdfs:comment "A epithelial neoplasm that involves the zone of skin." ; rdfs:subClassOf , . ordo:Orphanet_183481 a rdfs:Class ; rdfs:label "Genetic mixed dermis disorder" ; rdfs:subClassOf ordo:Orphanet_183472 . ordo:Orphanet_3327 a rdfs:Class ; rdfs:label "Thyrocerebrorenal syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93547 . ordo:Orphanet_319569 a rdfs:Class ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_319539 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "Spanish Rare Diseases Research Patient Registry" ; rdfs:comment "Patient Rare Diseases registries aimed to health outcomes and natural history of diseases" ; rdfs:subClassOf . ordo:Orphanet_93160 a rdfs:Class ; rdfs:label "Hypocalcemic vitamin D-resistant rickets" ; rdfs:comment "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." ; rdfs:subClassOf ordo:Orphanet_289103 , ordo:Orphanet_377788 , . ordo:Orphanet_137667 a rdfs:Class ; rdfs:label "Capillary malformation - arteriovenous malformation" ; rdfs:comment "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_211240 , ordo:Orphanet_377789 , . ordo:Orphanet_101963 a rdfs:Class ; rdfs:label "Acquired chronic primary adrenal insufficiency"@en ; rdfs:subClassOf ordo:Orphanet_101959 . ordo:Orphanet_300846 a rdfs:Class ; rdfs:label "Aggressive B-cell non-Hodgkin lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_171915 . ordo:Orphanet_876 a rdfs:Class ; rdfs:label "Yolk sac tumor"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "pure red-cell aplasia" ; rdfs:comment "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia." ; rdfs:subClassOf . ordo:Orphanet_2442 a rdfs:Class ; rdfs:label "X-linked lymphoproliferative disease" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_158038 , ordo:Orphanet_238510 , , . ordo:Orphanet_200421 a rdfs:Class ; rdfs:label "Immunodeficiency with factor H anomaly" ; rdfs:subClassOf , . ordo:Orphanet_2241 a rdfs:Class ; rdfs:label "Megacystis-microcolon-intestinal hypoperistalsis syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_104009 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , . ordo:Orphanet_3157 a rdfs:Class ; rdfs:label "Septo-optic dysplasia" ; rdfs:comment "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_137905 , ordo:Orphanet_377789 , ordo:Orphanet_95494 , ordo:Orphanet_95495 , ordo:Orphanet_98558 , ordo:Orphanet_98692 , , , . ordo:Orphanet_254758 a rdfs:Class ; rdfs:label "Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies" ; rdfs:subClassOf ordo:Orphanet_223713 . ordo:Orphanet_181396 a rdfs:Class ; rdfs:label "Rare hypothyroidism" ; rdfs:subClassOf ordo:Orphanet_101955 , ordo:Orphanet_183631 , . a rdfs:Class ; rdfs:label "vascular disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_90003 a rdfs:Class ; rdfs:label "IgG4-related hepatopathy"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "contracture" ; rdfs:comment "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." ; rdfs:subClassOf . ordo:Orphanet_98631 a rdfs:Class ; rdfs:label "Secondary dysgenetic glaucoma" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_359 . ordo:Orphanet_854 a rdfs:Class ; rdfs:label "Primitive portal vein thrombosis"@en ; rdfs:subClassOf ordo:Orphanet_377792 . ordo:Orphanet_399980 a rdfs:Class ; rdfs:label "Rare genetic male infertility" ; rdfs:subClassOf ordo:Orphanet_275742 , . a rdfs:Class ; rdfs:label "Biological Cousin" ; rdfs:comment "A relative who is the offspring of a sibling of either of the biological parents, and who share a common ancestor." ; rdfs:subClassOf , . ordo:Orphanet_182047 a rdfs:Class ; rdfs:label "Rare acquired hemolytic anemia"@en ; rdfs:subClassOf ordo:Orphanet_98363 . ordo:Orphanet_307141 a rdfs:Class ; rdfs:label "Diffuse palmoplantar keratoderma" ; rdfs:subClassOf ordo:Orphanet_79357 . ordo:Orphanet_319558 a rdfs:Class ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" ; rdfs:comment " infections." ; rdfs:subClassOf ordo:Orphanet_319535 , ordo:Orphanet_377788 . ordo:Orphanet_117 a rdfs:Class ; rdfs:label "Behçet disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_342 a rdfs:Class ; rdfs:label "Familial Mediterranean fever" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_290839 , ordo:Orphanet_324924 , ordo:Orphanet_377788 , . ordo:Orphanet_398940 a rdfs:Class ; rdfs:label "Malignant non-epithelial tumor of ovary"@en ; rdfs:subClassOf ordo:Orphanet_213500 . ordo:Orphanet_248347 a rdfs:Class ; rdfs:label "Rare hemorrhagic disorder due to an acquired platelet anomaly"@en ; rdfs:subClassOf ordo:Orphanet_248326 . a rdfs:Class ; rdfs:label "overnutrition" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_93614 a rdfs:Class ; rdfs:label "Hematological disorder with renal involvement" ; rdfs:subClassOf ordo:Orphanet_98056 , , . ordo:Orphanet_363294 a rdfs:Class ; rdfs:label "Genetic syndromic Pierre Robin syndrome" ; rdfs:subClassOf ordo:Orphanet_156237 . ordo:Orphanet_87277 a rdfs:Class ; rdfs:label "Rare intellectual disability"@en ; rdfs:subClassOf ordo:Orphanet_98006 . ordo:Orphanet_79388 a rdfs:Class ; rdfs:label "Mucopolysaccharidosis with skin involvement" ; rdfs:subClassOf ordo:Orphanet_79213 , ordo:Orphanet_79387 . ordo:Orphanet_658 a rdfs:Class ; rdfs:label "Non-histaminic angioedema"@en ; rdfs:subClassOf ordo:Orphanet_98023 , ordo:Orphanet_98050 . ordo:Orphanet_400011 a rdfs:Class ; rdfs:label "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" ; rdfs:comment "An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_400008 , . ordo:Orphanet_98572 a rdfs:Class ; rdfs:label "Canthal anomaly" ; rdfs:subClassOf ordo:Orphanet_98560 . a rdfs:Class ; rdfs:label "glycine metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of glycine metabolic process." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "disease susceptibility" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_166472 a rdfs:Class ; rdfs:label "Monogenic disease with epilepsy" ; rdfs:subClassOf ordo:Orphanet_183512 , ordo:Orphanet_306765 , , . a rdfs:Class ; rdfs:label "cholesterol biosynthetic process disease" ; rdfs:comment "A disease that has its basis in the disruption of cholesterol biosynthetic process." ; rdfs:subClassOf , ordo:Orphanet_79195 . ordo:Orphanet_225707 a rdfs:Class ; rdfs:label "Metabolic neurotransmission anomaly with epilepsy"@en ; rdfs:subClassOf ordo:Orphanet_166481 . a rdfs:Class ; rdfs:label "uveitis" ; rdfs:comment "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." ; rdfs:subClassOf , , . ordo:Orphanet_168999 a rdfs:Class ; rdfs:label "Malignant melanoma of the mucosa"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "rare male infertility due to adrenal disorder" ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "inflammatory disease" ; rdfs:comment "A disease involving a pathogenic inflammatory response in the anatomical structure." ; rdfs:subClassOf . ordo:Orphanet_165661 a rdfs:Class ; rdfs:label "Genetic pancreatic disease" ; rdfs:subClassOf ordo:Orphanet_165652 . ordo:Orphanet_79385 a rdfs:Class ; rdfs:label "Unclassified genetic skin disorder" ; rdfs:comment "Editor note: obsolete this" ; rdfs:subClassOf ordo:Orphanet_68346 , . a rdfs:Class ; rdfs:label "megaloblastic anemia (disease)" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_183710 a rdfs:Class ; rdfs:label "Genetic susceptibility to infections due to particular pathogens" ; rdfs:comment "Editor note: todo logical definition" ; rdfs:subClassOf ordo:Orphanet_101988 , . ordo:Orphanet_973 a rdfs:Class ; rdfs:label "Congenital absence/hypoplasia of fingers excluding thumb, unilateral" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_294990 , ordo:Orphanet_377791 . ordo:Orphanet_98646 a rdfs:Class ; rdfs:label "Renal disease with cataract" ; rdfs:subClassOf ordo:Orphanet_98643 , . ordo:Orphanet_98577 a rdfs:Class ; rdfs:label "Kinetic eyelid anomaly" ; rdfs:subClassOf ordo:Orphanet_98560 . a rdfs:Class ; rdfs:label "syndromic diaphragmatic or thoracic malformation" ; rdfs:subClassOf . ordo:Orphanet_112 a rdfs:Class ; rdfs:label "Bartter syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "thoracic cancer" ; rdfs:comment "A primary or metastatic malignant neoplasm affecting the tissues of the thorax." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "anthropometric measurement" ; rdfs:comment "Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." ; rdfs:subClassOf . ordo:Orphanet_55880 a rdfs:Class ; rdfs:label "Chondrosarcoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_169346 a rdfs:Class ; rdfs:label "DNA repair defect other than combined T-cell and B-cell immunodeficiencies" ; rdfs:subClassOf ordo:Orphanet_331217 , , . a rdfs:Class ; rdfs:label "breast disease" ; rdfs:comment "A disease involving the breast." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Miscellaneous Molecular Biology Terms" ; rdfs:subClassOf . ordo:Orphanet_101952 a rdfs:Class ; rdfs:label "Rare diabetes mellitus"@en ; rdfs:subClassOf ordo:Orphanet_97978 . ordo:Orphanet_302 a rdfs:Class ; rdfs:label "Epidermodysplasia verruciformis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183494 , ordo:Orphanet_331193 , ordo:Orphanet_377788 . ordo:Orphanet_381 a rdfs:Class ; rdfs:label "Griscelli disease" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_284811 . ordo:Orphanet_306507 a rdfs:Class ; rdfs:label "LAMB2-related infantile-onset nephrotic syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_97556 . a rdfs:Class ; rdfs:label "digestive system neoplasm" ; rdfs:comment "A neoplasm (disease) that involves the digestive system." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "intrinsic cardiomyopathy" ; rdfs:comment "A cardiomyopathy that is due to abnormalities in heart muscle cells." ; rdfs:subClassOf . ordo:Orphanet_166 a rdfs:Class ; rdfs:label "Charcot-Marie-Tooth disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_98497 , . a rdfs:Class ; rdfs:label "Female" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_264992 a rdfs:Class ; rdfs:label "Genetic interstitial lung disease" ; rdfs:subClassOf ordo:Orphanet_156610 . ordo:Orphanet_77293 a rdfs:Class ; rdfs:label "Niemann-Pick disease type B" ; rdfs:comment "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" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_207018 , ordo:Orphanet_377788 , , . ordo:Orphanet_98711 a rdfs:Class ; rdfs:label "Metabolic disease with corneal opacity" ; rdfs:subClassOf ordo:Orphanet_98710 . ordo:Orphanet_309340 a rdfs:Class ; rdfs:label "Disorder of lysosomal-related organelles" ; rdfs:subClassOf ordo:Orphanet_68367 . ordo:Orphanet_1334 a rdfs:Class ; rdfs:label "Chronic mucocutaneous candidosis" ; rdfs:comment "." ; rdfs:subClassOf ordo:Orphanet_183494 , ordo:Orphanet_183710 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Grandchild" ; rdfs:comment "A child of your son or daughter." ; rdfs:subClassOf , . ordo:Orphanet_213517 a rdfs:Class ; rdfs:label "Familial ovarian cancer" ; rdfs:comment "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183734 , ordo:Orphanet_398940 , . a rdfs:Class ; rdfs:label "Healthcare Facility" ; rdfs:comment "The buildings and organizations where healthcare services are provided." ; rdfs:subClassOf . ordo:Orphanet_404476 a rdfs:Class ; rdfs:label "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome" ; rdfs:subClassOf ordo:Orphanet_183595 , ordo:Orphanet_319328 , ordo:Orphanet_377789 , ordo:Orphanet_93460 . a rdfs:Class ; rdfs:label "First Cousin" ; rdfs:comment "A child of your aunt or uncle." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "ovarian cancer" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_71209 a rdfs:Class ; rdfs:label "Rare soft tissue tumor"@en ; rdfs:subClassOf ordo:Orphanet_98057 . ordo:Orphanet_829 a rdfs:Class ; rdfs:label "Adult-onset Still disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "congenital structural myopathy" ; rdfs:comment "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills." ; rdfs:subClassOf . ordo:Orphanet_228423 a rdfs:Class ; rdfs:label "Monocytopenia with susceptibility to infections" ; rdfs:subClassOf ordo:Orphanet_183710 , ordo:Orphanet_377788 , , . ordo:Orphanet_93450 a rdfs:Class ; rdfs:label "Primary bone dysplasia with disorganized development of skeletal components" ; rdfs:subClassOf ordo:Orphanet_364526 . a rdfs:Class ; rdfs:label "B cell deficiency" ; rdfs:comment "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." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "cerebrovascular disorder" ; rdfs:comment "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "rare disease with malignant hyperthermia" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_98313 a rdfs:Class ; rdfs:label "Male infertility due to gonadal dysgenesis" ; rdfs:subClassOf ordo:Orphanet_399764 . a rdfs:Class ; rdfs:label "epithelial neoplasm" ; rdfs:comment "benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hypothyroidism" ; rdfs:comment "Abnormally low levels of thyroid hormone." ; rdfs:subClassOf . ordo:Orphanet_91 a rdfs:Class ; rdfs:label "Aromatase deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_325061 , ordo:Orphanet_377788 , ordo:Orphanet_399983 , ordo:Orphanet_400011 , ordo:Orphanet_95710 , . ordo:Orphanet_68336 a rdfs:Class ; rdfs:label "Rare genetic tumor" ; rdfs:subClassOf ordo:Orphanet_98053 , , . a rdfs:Class ; rdfs:label "disorder of methionine catabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process." ; rdfs:subClassOf , ordo:Orphanet_79173 . ordo:Orphanet_93603 a rdfs:Class ; rdfs:label "Rare renal tubular disease"@en ; rdfs:subClassOf ordo:Orphanet_93626 . ordo:Orphanet_98061 a rdfs:Class ; rdfs:label "Rare otorhinolaryngologic tumor"@en ; rdfs:subClassOf ordo:Orphanet_290849 , ordo:Orphanet_98036 . a rdfs:Class ; rdfs:label "uveal disease" ; rdfs:comment "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "dilated cardiomyopathy" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_231130 a rdfs:Class ; rdfs:label "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion" ; rdfs:subClassOf ordo:Orphanet_116 , ordo:Orphanet_263708 , ordo:Orphanet_377795 , . a rdfs:Class ; rdfs:label "Maternal Biological Grandparent" ; rdfs:comment "A relative who is the biological parent of the biological mother." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Poland" . a rdfs:Class ; rdfs:label "Paternal Relative" ; rdfs:comment "A person related by lineage through the father's side of the family." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "pancreatic neoplasm" ; rdfs:comment "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)." ; rdfs:subClassOf , , . ordo:Orphanet_398079 a rdfs:Class ; rdfs:label "Prader-Willi-like syndrome due to point mutation" ; rdfs:subClassOf ordo:Orphanet_377796 , ordo:Orphanet_398073 . ordo:Orphanet_98561 a rdfs:Class ; rdfs:label "Eyelid malformation" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_98560 . ordo:Orphanet_77828 a rdfs:Class ; rdfs:label "Genetic obesity" ; rdfs:comment "We place OMIM:601665 here, although this includes" ; rdfs:subClassOf ordo:Orphanet_156638 , ordo:Orphanet_183573 , ordo:Orphanet_68367 , ordo:Orphanet_97978 , . a rdfs:Class ; rdfs:label "Southern Europe" . a rdf:Property ; rdfs:range , , , . ordo:Orphanet_352312 a rdfs:Class ; rdfs:label "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" ; rdfs:subClassOf ordo:Orphanet_352301 . a rdfs:Class ; rdfs:label "cardiomyopathy" ; rdfs:comment "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)." ; rdfs:subClassOf , . ordo:Orphanet_324 a rdfs:Class ; rdfs:label "Fabry disease" ; rdfs:comment "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_181437 , ordo:Orphanet_183478 , ordo:Orphanet_207018 , ordo:Orphanet_217581 , ordo:Orphanet_217638 , ordo:Orphanet_377788 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , ordo:Orphanet_93593 , ordo:Orphanet_98644 , ordo:Orphanet_98711 , , , , , . ordo:Orphanet_35689 a rdfs:Class ; rdfs:label "Primary lateral sclerosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98505 . a rdfs:Class ; rdfs:label "glycoprotein metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of glycoprotein metabolic process." ; rdfs:subClassOf ordo:Orphanet_68367 . ordo:Orphanet_169446 a rdfs:Class ; rdfs:label "Autosomal recessive hyper-IgE syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_331223 . ordo:Orphanet_264699 a rdfs:Class ; rdfs:label "Secondary interstitial lung disease specific to childhood associated with a systemic disease"@en ; rdfs:subClassOf ordo:Orphanet_264656 . ordo:Orphanet_271861 a rdfs:Class ; rdfs:label "Familial transthyretin-related amyloidosis" ; rdfs:subClassOf . ordo:Orphanet_183506 a rdfs:Class ; rdfs:label "Genetic central nervous system malformation" ; rdfs:subClassOf ordo:Orphanet_183530 , ordo:Orphanet_71859 . ordo:Orphanet_764 a rdfs:Class ; rdfs:label "Pyomyositis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Address" ; rdfs:comment "A standardized representation of the location of a person, business, building, or organization." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "nervous system benign neoplasm" ; rdfs:comment "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)." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "vision disorder" ; rdfs:comment "Any impairment to the vision." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "peripheral neuropathy" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_309824 a rdfs:Class ; rdfs:label "Disorder of metabolite absorption and transport" ; rdfs:subClassOf ordo:Orphanet_68367 . a rdfs:Class ; rdfs:label "All" ; rdfs:comment "Root of all terms in the Human Phenotype Ontology." ; rdfs:subClassOf . ordo:Orphanet_57146 a rdfs:Class ; rdfs:label "Rare hepatic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . a rdfs:Class ; rdfs:label "head and neck disorder" ; rdfs:comment "Any disease or disorder affecting the head and/or neck region." ; rdfs:subClassOf . ordo:Orphanet_231641 a rdfs:Class ; rdfs:label "Rare non surgically correctable form of primary aldosteronism"@en ; rdfs:subClassOf ordo:Orphanet_181415 . a rdfs:Class ; rdfs:label "Finding by Cause" ; rdfs:subClassOf . ordo:Orphanet_803 a rdfs:Class ; rdfs:label "Amyotrophic lateral sclerosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_209053 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of titin" ; rdfs:subClassOf ordo:Orphanet_207049 . ordo:Orphanet_514 a rdfs:Class ; rdfs:label "Acute monoblastic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Follow-Up" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_181408 a rdfs:Class ; rdfs:label "Rare hyperparathyroidism"@en ; rdfs:subClassOf ordo:Orphanet_68415 . ordo:Orphanet_319623 a rdfs:Class ; rdfs:label "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" ; rdfs:comment "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." ; rdfs:subClassOf ordo:Orphanet_319605 , ordo:Orphanet_377795 . ordo:Orphanet_251630 a rdfs:Class ; rdfs:label "Anaplastic oligodendroglioma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_261947 a rdfs:Class ; rdfs:label "Partial deletion of the short arm of chromosome 11" ; rdfs:subClassOf ordo:Orphanet_261816 . a rdfs:Class ; rdfs:label "Phenotypic abnormality" ; rdfs:comment "A phenotypic abnormality. [ HPO:probinson ] " ; rdfs:subClassOf . ordo:Orphanet_144 a rdfs:Class ; rdfs:label "Lynch syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , , , . ordo:Orphanet_98087 a rdfs:Class ; rdfs:label "Syndrome with 46,XY disorder of sex development" ; rdfs:subClassOf ordo:Orphanet_325706 . a rdfs:Class ; rdfs:label "schwannoma" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf , , , , . ordo:Orphanet_309816 a rdfs:Class ; rdfs:label "Disorder of bilirubin metabolism and excretion" ; rdfs:comment "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_309813 , . ordo:Orphanet_308520 a rdfs:Class ; rdfs:label "Glycogen storage disease due to glycogen synthase deficiency" ; rdfs:subClassOf ordo:Orphanet_79201 , . a rdfs:Class ; rdfs:label "cholestasis" ; rdfs:comment "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system." ; rdfs:subClassOf . ordo:Orphanet_3261 a rdfs:Class ; rdfs:label "Autoimmune lymphoproliferative syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_169355 , ordo:Orphanet_238510 , ordo:Orphanet_377788 , . ordo:Orphanet_158038 a rdfs:Class ; rdfs:label "Primary hemophagocytic lymphohistiocytosis" ; rdfs:comment "Genetic hemophagocytic lymphohistiocytosis." ; rdfs:subClassOf ordo:Orphanet_158032 , ordo:Orphanet_169361 , . ordo:Orphanet_139012 a rdfs:Class ; rdfs:label "Rare bone development disorder"@en ; rdfs:subClassOf ordo:Orphanet_93890 . ordo:Orphanet_247709 a rdfs:Class ; rdfs:label "Multiple endocrine neoplasia type 2B" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377796 , ordo:Orphanet_653 , , , , , . ordo:Orphanet_181390 a rdfs:Class ; rdfs:label "Hypogonadotropic hypogonadism associated with other endocrinopathies" ; rdfs:subClassOf ordo:Orphanet_174590 , ordo:Orphanet_399839 . a rdfs:Class ; rdfs:label "fetal lower urinary tract obstruction" ; rdfs:subClassOf ordo:Orphanet_156622 , ordo:Orphanet_183539 . ordo:Orphanet_364 a rdfs:Class ; rdfs:label "Glycogen storage disease due to glucose-6-phosphatase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_377788 , ordo:Orphanet_79201 , ordo:Orphanet_93593 , . ordo:Orphanet_183675 a rdfs:Class ; rdfs:label "Recurrent infections associated with rare immunoglobulin isotypes deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_331232 , ordo:Orphanet_377788 . ordo:Orphanet_182222 a rdfs:Class ; rdfs:label "Rare systemic disease"@en ; rdfs:subClassOf ordo:Orphanet_98023 . ordo:Orphanet_102014 a rdfs:Class ; rdfs:label "Autosomal dominant limb-girdle muscular dystrophy" ; rdfs:comment "Autosomal dominant form of limb-girdle muscular dystrophy." ; rdfs:subClassOf ordo:Orphanet_263 , . ordo:Orphanet_168569 a rdfs:Class ; rdfs:label "H syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_183466 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , , , . ordo:Orphanet_377793 a rdfs:Class ; rdfs:label "particular clinical situation in a disease or syndrome"@en ; rdfs:subClassOf ordo:Orphanet_C001 . a rdfs:Class ; rdfs:label "Cushing syndrome" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "primary adrenal insufficiency" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_217382 a rdfs:Class ; rdfs:label "Neurodegenerative syndrome due to cerebral folate transport deficiency" ; rdfs:subClassOf ordo:Orphanet_183500 , ordo:Orphanet_285657 , ordo:Orphanet_377788 , . ordo:Orphanet_183466 a rdfs:Class ; rdfs:label "Genetic hyperpigmentation of the skin" ; rdfs:subClassOf ordo:Orphanet_183463 . ordo:Orphanet_179 a rdfs:Class ; rdfs:label "Birdshot chorioretinopathy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , , , . ordo:Orphanet_181431 a rdfs:Class ; rdfs:label "Rare hypolipidemia" ; rdfs:subClassOf ordo:Orphanet_101953 . ordo:Orphanet_193 a rdfs:Class ; rdfs:label "Cohen syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_183763 , ordo:Orphanet_240371 , ordo:Orphanet_331184 , ordo:Orphanet_377789 , ordo:Orphanet_98620 , ordo:Orphanet_98661 , , . ordo:Orphanet_268926 a rdfs:Class ; rdfs:label "Midline cerebral malformation" ; rdfs:subClassOf ordo:Orphanet_269553 , . ordo:Orphanet_137634 a rdfs:Class ; rdfs:label "Overgrowth - macrocephaly - facial dysmorphism" ; rdfs:comment "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93460 . ordo:Orphanet_69735 a rdfs:Class ; rdfs:label "Hypotrichosis - lymphedema - telangiectasia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , . a rdfs:Class ; rdfs:label "disorder of GPI anchor biosynthesis" ; rdfs:comment "A disease that has its basis in the disruption of GPI anchor biosynthetic process." ; rdfs:subClassOf . ordo:Orphanet_97945 a rdfs:Class ; rdfs:label "Intestinal malformation" ; rdfs:subClassOf ordo:Orphanet_183545 . a rdfs:Class ; rdfs:label "autoimmune polyendocrinopathy" ; rdfs:comment "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." ; rdfs:subClassOf , , . ordo:Orphanet_225703 a rdfs:Class ; rdfs:label "Mitochondrial disease with peripheral neuropathy" ; rdfs:subClassOf ordo:Orphanet_207018 , , . a rdfs:Class ; rdfs:label "integumentary system cancer" ; rdfs:comment "A malignant neoplasm involving the integumental system" ; rdfs:subClassOf , . ordo:Orphanet_44 a rdfs:Class ; rdfs:label "Neonatal adrenoleukodystrophy" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101960 , ordo:Orphanet_166472 , ordo:Orphanet_377788 , ordo:Orphanet_79189 , ordo:Orphanet_98713 , . ordo:Orphanet_139009 a rdfs:Class ; rdfs:label "Developmental anomaly of metabolic origin" ; rdfs:subClassOf ordo:Orphanet_183530 , ordo:Orphanet_68367 , ordo:Orphanet_93890 , . ordo:Orphanet_393 a rdfs:Class ; rdfs:label "46,XX testicular disorder of sex development" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_243 , ordo:Orphanet_98313 . ordo:Orphanet_79473 a rdfs:Class ; rdfs:label "Porphyria variegata" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_95157 . ordo:Orphanet_284426 a rdfs:Class ; rdfs:label "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_206959 , ordo:Orphanet_2364 , ordo:Orphanet_377796 . a rdfs:Class ; rdfs:label "hereditary connective tissue disorder" ; rdfs:comment "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome." ; rdfs:subClassOf , . ordo:Orphanet_70 a rdfs:Class ; rdfs:label "Proximal spinal muscular atrophy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98505 , . ordo:Orphanet_324575 a rdfs:Class ; rdfs:label "Hyperinsulinism due to HNF1A deficiency" ; rdfs:comment "#945;)'." ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_377788 . ordo:Orphanet_183503 a rdfs:Class ; rdfs:label "Genetic central nervous system and retinal vascular disease" ; rdfs:subClassOf ordo:Orphanet_71859 , , . ordo:Orphanet_102020 a rdfs:Class ; rdfs:label "Autosomal monosomy" ; rdfs:subClassOf ordo:Orphanet_98127 , . ordo:Orphanet_263455 a rdfs:Class ; rdfs:label "Hyperinsulinism due to HNF4A deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "disease by molecular activity disrupted" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rheumatic disease" ; rdfs:comment "A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." ; rdfs:subClassOf , . ordo:Orphanet_169085 a rdfs:Class ; rdfs:label "Susceptibility to respiratory infections associated with CD8alpha chain mutation" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_254767 a rdfs:Class ; rdfs:label "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" ; rdfs:subClassOf ordo:Orphanet_254758 . a rdfs:Class ; rdfs:label "other epidermal disorder" ; rdfs:comment "Editor note: consider merging" ; rdfs:subClassOf . ordo:Orphanet_98653 a rdfs:Class ; rdfs:label "Lens position anomaly" ; rdfs:comment "Partial or complete displacement of the crystalline lens from its normal position in the eye." ; rdfs:subClassOf ordo:Orphanet_183607 , . ordo:Orphanet_3091 a rdfs:Class ; rdfs:label "Congenital systemic veins anomaly"@en ; rdfs:subClassOf ordo:Orphanet_363189 . ordo:Orphanet_2102 a rdfs:Class ; rdfs:label "GTP cyclohydrolase I deficiency" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_238583 , ordo:Orphanet_377796 , . a rdfs:Class ; rdfs:label "pseudohypoparathyroidism with Albright hereditary osteodystrophy" ; rdfs:subClassOf , , , ordo:Orphanet_240371 , ordo:Orphanet_93436 , ordo:Orphanet_97593 , ordo:Orphanet_98648 . ordo:Orphanet_400018 a rdfs:Class ; rdfs:label "Rare female infertility due to adrenal disorder of genetic origin" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_400011 , . a rdfs:Class ; rdfs:label "Gene" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Document" ; rdfs:comment "A physical object, or electronic counterpart, that is characterized by containing writing which is meant to be human-readable." ; rdfs:subClassOf , . ordo:Orphanet_68341 a rdfs:Class ; rdfs:label "Multiple congenital anomalies/dysmorphic syndrome"@en ; rdfs:subClassOf ordo:Orphanet_93890 . ordo:Orphanet_93454 a rdfs:Class ; rdfs:label "Dysostosis with predominant vertebral and costal involvement" ; rdfs:subClassOf ordo:Orphanet_404568 . ordo:Orphanet_34527 a rdfs:Class ; rdfs:label "Familial primary hypomagnesemia with normocalciuria and normocalcemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_306522 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "hearing loss" ; rdfs:comment "A general term for the complete or partial loss of the ability to hear from one or both ears." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "endocrine system disease" ; rdfs:comment "Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs." ; rdfs:subClassOf . ordo:Orphanet_231214 a rdfs:Class ; rdfs:label "Beta-thalassemia major" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377796 , . ordo:Orphanet_181371 a rdfs:Class ; rdfs:label "Rare diabetes mellitus type 1"@en ; rdfs:subClassOf ordo:Orphanet_101952 . ordo:Orphanet_447 a rdfs:Class ; rdfs:label "Paroxysmal nocturnal hemoglobinuria" ; rdfs:comment "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_158300 , ordo:Orphanet_309515 , ordo:Orphanet_377788 , , , . ordo:Orphanet_2364 a rdfs:Class ; rdfs:label "Glycogen storage disease due to lactate dehydrogenase deficiency" ; rdfs:subClassOf ordo:Orphanet_79201 , . ordo:Orphanet_370953 a rdfs:Class ; rdfs:label "Congenital muscular dystrophy due to dystroglycanopathy" ; rdfs:subClassOf ordo:Orphanet_97242 . ordo:Orphanet_1563 a rdfs:Class ; rdfs:label "Dahlberg-Borer-Newcomer syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_181402 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_79373 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , . ordo:Orphanet_165994 a rdfs:Class ; rdfs:label "Selective pituitary resistance to thyroid hormone" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_181399 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "syndromic breast hypoplasia/aplasia" ; rdfs:subClassOf . ordo:Orphanet_289899 a rdfs:Class ; rdfs:label "Organic aciduria" ; rdfs:comment "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_79062 , . ordo:Orphanet_887 a rdfs:Class ; rdfs:label "VACTERL/VATER association" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_330206 , ordo:Orphanet_371445 , ordo:Orphanet_377789 , ordo:Orphanet_93547 . a rdfs:Class ; rdfs:label "familial hypertrophic cardiomyopathy" ; rdfs:comment "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "movement disorder" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_34516 a rdfs:Class ; rdfs:label "Autosomal dominant limb-girdle muscular dystrophy type 1D" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102014 , ordo:Orphanet_377788 . ordo:Orphanet_79377 a rdfs:Class ; rdfs:label "Dermis disorder"@en ; rdfs:subClassOf ordo:Orphanet_89826 . ordo:Orphanet_98754 a rdfs:Class ; rdfs:label "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_739 , ordo:Orphanet_98153 . a rdfs:Class ; rdfs:label "Pregnancy Outcome" ; rdfs:comment "Findings observed at the end of a pregnancy." ; rdfs:subClassOf . ordo:Orphanet_407 a rdfs:Class ; rdfs:label "Glycine encephalopathy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , ordo:Orphanet_79194 , , . ordo:Orphanet_98274 a rdfs:Class ; rdfs:label "Myeloproliferative neoplasm"@en ; rdfs:subClassOf ordo:Orphanet_171895 . ordo:Orphanet_269553 a rdfs:Class ; rdfs:label "Genetic cerebral malformation" ; rdfs:subClassOf ordo:Orphanet_269550 . ordo:Orphanet_98640 a rdfs:Class ; rdfs:label "Rare cataract" ; rdfs:subClassOf ordo:Orphanet_183607 , ordo:Orphanet_98639 . ordo:Orphanet_2086 a rdfs:Class ; rdfs:label "Optic pathway glioma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_207119 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of FKRP" ; rdfs:comment "Editor note: consider merge with fukutin" ; rdfs:subClassOf ordo:Orphanet_207113 . ordo:Orphanet_85438 a rdfs:Class ; rdfs:label "Enthesitis-related juvenile idiopathic arthritis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "selective immunoglobulin deficiency disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_457059 a rdfs:Class ; rdfs:label "Pseudohypoparathyroidism with Albright hereditary osteodystrophy"@en ; rdfs:subClassOf ordo:Orphanet_240371 , ordo:Orphanet_477808 , ordo:Orphanet_79381 , ordo:Orphanet_93436 , ordo:Orphanet_97593 , ordo:Orphanet_98648 . ordo:Orphanet_182064 a rdfs:Class ; rdfs:label "Rare neuroinflammatory or neuroimmunological disease"@en ; rdfs:subClassOf ordo:Orphanet_98006 . a rdfs:Class ; rdfs:label "disease of receptor activity" ; rdfs:subClassOf , . ordo:Orphanet_180824 a rdfs:Class ; rdfs:label "Rare tumor of pancreas"@en ; rdfs:subClassOf ordo:Orphanet_101937 , ordo:Orphanet_98059 . ordo:Orphanet_364536 a rdfs:Class ; rdfs:label "Primary bone dysplasia with micromelia" ; rdfs:subClassOf ordo:Orphanet_364526 . a rdfs:Class ; rdfs:label "familial hemolytic anemia" ; rdfs:comment "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." ; rdfs:seeAlso ; rdfs:subClassOf , . ordo:Orphanet_420702 a rdfs:Class ; rdfs:label "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Andora" . ordo:Orphanet_206976 a rdfs:Class ; rdfs:label "Periodic paralysis"@en ; rdfs:subClassOf ordo:Orphanet_206634 . ordo:Orphanet_86871 a rdfs:Class ; rdfs:label "T-cell prolymphocytic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_156071 a rdfs:Class ; rdfs:label "Keratoconus" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101435 , . ordo:Orphanet_319612 a rdfs:Class ; rdfs:label "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" ; rdfs:comment "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the IKBKG gene." ; rdfs:subClassOf ordo:Orphanet_319605 , ordo:Orphanet_377795 . a rdfs:Class ; rdfs:label "headache disorder" ; rdfs:comment "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)" ; rdfs:subClassOf . ordo:Orphanet_309827 a rdfs:Class ; rdfs:label "Disorder of vitamin and non-protein cofactor absorption and transport " ; rdfs:subClassOf ordo:Orphanet_309824 . a rdfs:Class ; rdfs:label "diaphragmatic or abdominal wall malformation" ; rdfs:subClassOf . ordo:Orphanet_317430 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to STIM1 deficiency" ; rdfs:comment " 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." ; rdfs:subClassOf ordo:Orphanet_169090 , ordo:Orphanet_377796 . ordo:Orphanet_98249 a rdfs:Class ; rdfs:label "Ehlers-Danlos syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139027 , ordo:Orphanet_139030 , ordo:Orphanet_182222 , ordo:Orphanet_228215 , ordo:Orphanet_271870 , , . ordo:Orphanet_519266 a rdfs:Class ; rdfs:label "Rare disorder of the ocular adnexa"@en ; rdfs:subClassOf ordo:Orphanet_520814 . ordo:Orphanet_425003 a rdfs:Class ; rdfs:label "Inherited digestive cancer-predisposing syndrome"@en ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_97935 . a rdfs:Class ; rdfs:label "genetic cardiac malformation" ; rdfs:subClassOf . ordo:Orphanet_98591 a rdfs:Class ; rdfs:label "Mesenchymatous palpebral tumor" ; rdfs:subClassOf ordo:Orphanet_98580 , , . ordo:Orphanet_289 a rdfs:Class ; rdfs:label "Ellis Van Creveld syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156532 , ordo:Orphanet_474 , ordo:Orphanet_79373 , . a rdfs:Class ; rdfs:label "sebaceous gland anomaly" ; rdfs:comment "A epidermal appendage anomaly that involves the sebaceous gland." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "autoimmune enteropathy" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "angioedema, hereditary, type 1/2" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_91378 . ordo:Orphanet_309830 a rdfs:Class ; rdfs:label "Disorder of catecholamine synthesis" ; rdfs:subClassOf ordo:Orphanet_79169 . a rdfs:Class ; rdfs:label "Liechtenstein" . ordo:Orphanet_98098 a rdfs:Class ; rdfs:label "Autosomal recessive degenerative and progressive cerebellar ataxia" ; rdfs:subClassOf ordo:Orphanet_1172 . ordo:Orphanet_95505 a rdfs:Class ; rdfs:label "Pituitary hormone deficiency from meningeal origin"@en ; rdfs:subClassOf ordo:Orphanet_95502 . a rdfs:Class ; rdfs:label "Cause of Death" ; rdfs:comment "The circumstance or condition that results in the death of a living being." ; rdfs:subClassOf . ordo:Orphanet_667 a rdfs:Class ; rdfs:label "Autosomal recessive malignant osteopetrosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_2781 , ordo:Orphanet_98677 , . ordo:Orphanet_753 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_309005 , ordo:Orphanet_377788 , ordo:Orphanet_399685 , ordo:Orphanet_98086 , . a rdfs:Class ; rdfs:label "hyperinsulinemic hypoglycemia, familial, 2" ; rdfs:comment "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene." ; rdfs:seeAlso ; rdfs:subClassOf , ordo:Orphanet_657 . a rdfs:Class ; rdfs:label "syndrome with corpus callosum agenesis /dysgenesis as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf , ordo:Orphanet_269564 . a rdfs:Class ; rdfs:label "colonic disease" ; rdfs:comment "Pathological processes in the colon region of the large intestine (intestine, large)." ; rdfs:subClassOf . ordo:Orphanet_98156 a rdfs:Class ; rdfs:label "Gonosome number anomaly" ; rdfs:subClassOf ordo:Orphanet_98155 . ordo:Orphanet_98050 a rdfs:Class ; rdfs:label "Rare allergic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_352301 a rdfs:Class ; rdfs:label "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis" ; rdfs:subClassOf ordo:Orphanet_309005 . ordo:Orphanet_1578 a rdfs:Class ; rdfs:label "Dehydratase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_238583 , ordo:Orphanet_377796 . a rdfs:Class ; rdfs:label "immunodeficiency 28" ; rdfs:comment "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." ; rdfs:subClassOf , . ordo:Orphanet_183530 a rdfs:Class ; rdfs:label "Rare genetic developmental defect during embryogenesis" ; rdfs:subClassOf ordo:Orphanet_98053 , . ordo:Orphanet_98574 a rdfs:Class ; rdfs:label "Syndromic epicanthus" ; rdfs:subClassOf ordo:Orphanet_98573 , . ordo:Orphanet_64 a rdfs:Class ; rdfs:label "Alström syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183625 , ordo:Orphanet_217619 , ordo:Orphanet_240371 , ordo:Orphanet_90642 , ordo:Orphanet_98661 , . ordo:Orphanet_641 a rdfs:Class ; rdfs:label "Multifocal motor neuropathy"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Biological Paternal Cousin" ; rdfs:comment "A relative who is the offspring of a sibling of the biological father and thus sharing a common ancestor." ; rdfs:subClassOf . ordo:Orphanet_183450 a rdfs:Class ; rdfs:label "Genetic hair anomaly" ; rdfs:comment "An instance of hair anomaly that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183447 , . ordo:Orphanet_379 a rdfs:Class ; rdfs:label "Chronic granulomatous disease" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_104013 , ordo:Orphanet_183494 , ordo:Orphanet_183681 , ordo:Orphanet_271870 , ordo:Orphanet_377788 , , , , , , , , , . ordo:Orphanet_93573 a rdfs:Class ; rdfs:label "Thrombotic microangiopathy"@en ; rdfs:subClassOf ordo:Orphanet_93626 . a rdfs:Class ; rdfs:label "Biological Grandparent" ; rdfs:comment "A biological parent of the biological father or biological mother." ; rdfs:subClassOf , . ordo:Orphanet_183634 a rdfs:Class ; rdfs:label "Rare genetic parathyroid disease and phosphocalcic metabolism disorder" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156638 , ordo:Orphanet_68367 , . ordo:Orphanet_313 a rdfs:Class ; rdfs:label "Lamellar ichthyosis" ; rdfs:comment "Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." ; rdfs:subClassOf ordo:Orphanet_281097 , ordo:Orphanet_377788 , ordo:Orphanet_98698 . ordo:Orphanet_404571 a rdfs:Class ; rdfs:label "Dysostosis of genetic origin with limb anomaly as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_404568 , . a rdfs:Class ; rdfs:label "immunodeficiency due to a complement regulatory deficiency" ; rdfs:subClassOf ordo:Orphanet_101992 . ordo:Orphanet_1031 a rdfs:Class ; rdfs:label "Amelogenesis imperfecta - nephrocalcinosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183580 , ordo:Orphanet_377789 , ordo:Orphanet_93593 . a rdfs:Class ; rdfs:label "Biological Maternal Grandfather" ; rdfs:comment "A male relative who is the biological father of the biological mother." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "heart failure" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_213500 a rdfs:Class ; rdfs:label "Ovarian cancer"@en ; rdfs:subClassOf ordo:Orphanet_180220 . a rdfs:Class ; rdfs:label "neurodegenerative disease" ; rdfs:comment "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." ; rdfs:subClassOf , . ordo:Orphanet_300547 a rdfs:Class ; rdfs:label "Autosomal recessive infantile hypercalcemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183634 , ordo:Orphanet_377788 , ordo:Orphanet_93593 , , , . a rdfs:Class ; rdfs:label "blood vessel neoplasm" ; rdfs:comment "A neoplasm arising from arteries or veins." ; rdfs:subClassOf , . ordo:Orphanet_818 a rdfs:Class ; rdfs:label "Smith-Lemli-Opitz syndrome" ; rdfs:comment "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_108987 , ordo:Orphanet_138063 , ordo:Orphanet_181437 , ordo:Orphanet_182073 , ordo:Orphanet_183570 , ordo:Orphanet_294959 , ordo:Orphanet_325511 , ordo:Orphanet_364571 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_98574 , ordo:Orphanet_98578 , ordo:Orphanet_98650 , ordo:Orphanet_98712 , , , , . ordo:Orphanet_99408 a rdfs:Class ; rdfs:label "Pituitary adenoma"@en ; rdfs:subClassOf ordo:Orphanet_304055 , ordo:Orphanet_95503 . ordo:Orphanet_399158 a rdfs:Class ; rdfs:label "Osteonecrosis"@en ; rdfs:subClassOf ordo:Orphanet_182231 , ordo:Orphanet_93419 . ordo:Orphanet_404577 a rdfs:Class ; rdfs:label "Genetic syndrome with limb malformations as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183536 , , . ordo:Orphanet_588 a rdfs:Class ; rdfs:label "Muscle-eye-brain disease" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_207119 , ordo:Orphanet_207122 , ordo:Orphanet_209024 , ordo:Orphanet_209033 , ordo:Orphanet_309469 , ordo:Orphanet_352687 , ordo:Orphanet_371064 , ordo:Orphanet_371071 , ordo:Orphanet_371235 , ordo:Orphanet_377789 , ordo:Orphanet_98620 . a rdfs:Class ; rdfs:label "systemic autoimmune disease" ; rdfs:comment "An autoimmune form of systemic disease." ; rdfs:subClassOf , . ordo:Orphanet_319600 a rdfs:Class ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" ; rdfs:comment "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).." ; rdfs:subClassOf ordo:Orphanet_319543 , ordo:Orphanet_377788 . ordo:Orphanet_88991 a rdfs:Class ; rdfs:label "Rare congenital non-syndromic heart malformation"@en ; rdfs:subClassOf ordo:Orphanet_97965 . ordo:Orphanet_166466 a rdfs:Class ; rdfs:label "Neurocutaneous syndrome with epilepsy" ; rdfs:subClassOf ordo:Orphanet_183512 , . ordo:Orphanet_309005 a rdfs:Class ; rdfs:label "Disorder of lipid metabolism" ; rdfs:comment "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." ; rdfs:subClassOf ordo:Orphanet_68367 . ordo:Orphanet_98694 a rdfs:Class ; rdfs:label "Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly" ; rdfs:subClassOf ordo:Orphanet_98692 . ordo:Orphanet_2207 a rdfs:Class ; rdfs:label "Familial primary hyperparathyroidism" ; rdfs:comment "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_100090 , ordo:Orphanet_181408 , ordo:Orphanet_208596 , , . a rdfs:Class ; rdfs:label "congenital limb malformation" ; rdfs:subClassOf . ordo:Orphanet_2024 a rdfs:Class ; rdfs:label "Hereditary gingival fibromatosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_164001 , ordo:Orphanet_183580 , ordo:Orphanet_377789 , , . ordo:Orphanet_138055 a rdfs:Class ; rdfs:label "Pierre Robin syndrome associated with bone disease" ; rdfs:subClassOf ordo:Orphanet_363294 , . a rdfs:Class ; rdfs:label "hypercalcemia disease" ; rdfs:comment "Abnormally high concentration of calcium in the peripheral blood." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "R-LIVER" ; rdfs:comment "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:subClassOf . a rdfs:Class ; rdfs:label "non-syndromic urogenital tract malformation" ; rdfs:comment "A urogenital tract malformation that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_156622 . ordo:Orphanet_281217 a rdfs:Class ; rdfs:label "Autosomal ichthyosis syndrome" ; rdfs:subClassOf ordo:Orphanet_281085 . ordo:Orphanet_280133 a rdfs:Class ; rdfs:label "Complement component 3 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "central nervous system cancer" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_90771 a rdfs:Class ; rdfs:label "Disorder of sex development"@en ; rdfs:subClassOf ordo:Orphanet_101433 , ordo:Orphanet_93890 , ordo:Orphanet_97978 . ordo:Orphanet_98567 a rdfs:Class ; rdfs:label "Eyelids malposition disorder" ; rdfs:subClassOf ordo:Orphanet_98560 . ordo:Orphanet_519 a rdfs:Class ; rdfs:label "Acute myeloid leukemia"@en ; rdfs:subClassOf ordo:Orphanet_171895 . ordo:Orphanet_46135 a rdfs:Class ; rdfs:label "Primary central nervous system lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_397 a rdfs:Class ; rdfs:label "Giant cell arteritis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "nutritional or metabolic disease" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare endocrine growth disease" ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "monogenic disease" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_199296 a rdfs:Class ; rdfs:label "Congenital isolated ACTH deficiency" ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_95488 . a rdfs:Class ; rdfs:label "neuromuscular disease" ; rdfs:comment "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" ; rdfs:subClassOf . ordo:Orphanet_352687 a rdfs:Class ; rdfs:label "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_370953 , ordo:Orphanet_51577 . a rdfs:Class ; rdfs:label "congenital heart malformation" ; rdfs:comment "any structural anomly of the heart that is present from birth" ; rdfs:subClassOf , . ordo:Orphanet_183518 a rdfs:Class ; rdfs:label "Rare hereditary ataxia" ; rdfs:subClassOf ordo:Orphanet_102002 , ordo:Orphanet_71859 . ordo:Orphanet_98473 a rdfs:Class ; rdfs:label "Muscular dystrophy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_206634 , . a rdfs:Class ; rdfs:label "Eastern Europe" . ordo:Orphanet_165707 a rdfs:Class ; rdfs:label "Syndromic urogenital tract malformation" ; rdfs:comment "A urogenital tract malformation that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_156622 , , . a rdfs:Class ; rdfs:label "Clinics and Hospitals" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_98580 a rdfs:Class ; rdfs:label "Palpebral tumor" ; rdfs:subClassOf ordo:Orphanet_98560 . ordo:Orphanet_188 a rdfs:Class ; rdfs:label "Systemic capillary leak syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_156207 a rdfs:Class ; rdfs:label "Macroglossia" ; rdfs:comment "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)" ; rdfs:subClassOf ordo:Orphanet_183583 , , . a rdfs:Class ; rdfs:label "cerebellar ataxia" ; rdfs:comment "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." ; rdfs:subClassOf , ordo:Orphanet_183521 , ordo:Orphanet_269567 . ordo:Orphanet_275543 a rdfs:Class ; rdfs:label "L1 syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_269573 , ordo:Orphanet_98464 , . ordo:Orphanet_252190 a rdfs:Class ; rdfs:label "Inherited nervous system cancer-predisposing syndrome"@en ; rdfs:subClassOf ordo:Orphanet_98006 . ordo:Orphanet_268114 a rdfs:Class ; rdfs:label "RAS-associated autoimmune leukoproliferative disease" ; rdfs:comment "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." ; rdfs:subClassOf ordo:Orphanet_3261 . ordo:Orphanet_915 a rdfs:Class ; rdfs:label "Aarskog-Scott syndrome" ; rdfs:comment "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_165707 , ordo:Orphanet_183570 , ordo:Orphanet_330197 , ordo:Orphanet_377789 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , ordo:Orphanet_98464 , . ordo:Orphanet_519272 a rdfs:Class ; rdfs:label "Structural developmental eye defect"@en ; rdfs:subClassOf ordo:Orphanet_520814 , ordo:Orphanet_98553 . ordo:Orphanet_101977 a rdfs:Class ; rdfs:label "Immunodeficiency predominantly affecting antibody production" ; rdfs:subClassOf ordo:Orphanet_179006 . a rdfs:Class ; rdfs:label "spondyloepimetaphyseal dysplasia" ; rdfs:comment "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis." ; rdfs:subClassOf . ordo:Orphanet_86902 a rdfs:Class ; rdfs:label "Follicular dendritic cell sarcoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Registry of Osteogenesis Imperfecta"@en ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_368 a rdfs:Class ; rdfs:label "Glycogen storage disease due to muscle glycogen phosphorylase deficiency" ; rdfs:subClassOf ordo:Orphanet_206959 , ordo:Orphanet_377788 , ordo:Orphanet_79201 . ordo:Orphanet_183592 a rdfs:Class ; rdfs:label "Genetic renal tubular disease" ; rdfs:subClassOf ordo:Orphanet_98056 , . a rdfs:Class ; rdfs:label "Croatia" . a rdfs:Class ; rdfs:label "cardiovascular disease" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Encounter" ; rdfs:comment "Each individual, unique interaction between two subjects of interest." ; rdfs:subClassOf . ordo:Orphanet_3332 a rdfs:Class ; rdfs:label "Hypoplastic tibiae - postaxial polydactyly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_294957 , ordo:Orphanet_377789 , . ordo:Orphanet_183631 a rdfs:Class ; rdfs:label "Rare genetic thyroid disease" ; rdfs:subClassOf ordo:Orphanet_156638 , . ordo:Orphanet_652 a rdfs:Class ; rdfs:label "Multiple endocrine neoplasia type 1" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_2207 , ordo:Orphanet_276161 , ordo:Orphanet_377788 , , , , . ordo:Orphanet_238583 a rdfs:Class ; rdfs:label "Hyperphenylalaninemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_309819 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "genetic alopecia" ; rdfs:comment "An instance of alopecia that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_79364 . a rdfs:Class ; rdfs:label "osteosclerosis" ; rdfs:comment "Abnormally high bone density." ; rdfs:subClassOf . ordo:Orphanet_1501 a rdfs:Class ; rdfs:label "Adrenocortical carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98639 a rdfs:Class ; rdfs:label "Rare lens disease"@en ; rdfs:subClassOf ordo:Orphanet_519284 . ordo:Orphanet_98696 a rdfs:Class ; rdfs:label "Genodermatosis with ocular features" ; rdfs:subClassOf ordo:Orphanet_101435 . ordo:Orphanet_177910 a rdfs:Class ; rdfs:label "Prader-Willi syndrome due to imprinting mutation" ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_739 . ordo:Orphanet_79299 a rdfs:Class ; rdfs:label "Hyperinsulinism due to glucokinase deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_308459 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "Luxembourg" . ordo:Orphanet_2169 a rdfs:Class ; rdfs:label "Methylcobalamin deficiency type cblE" ; rdfs:comment "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." ; rdfs:subClassOf ordo:Orphanet_377796 , ordo:Orphanet_622 . ordo:Orphanet_97234 a rdfs:Class ; rdfs:label "Glycogen storage disease due to phosphoglycerate mutase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206959 , ordo:Orphanet_377788 , ordo:Orphanet_79201 . ordo:Orphanet_231144 a rdfs:Class ; rdfs:label "Silver-Russell syndrome due to 11p15 microduplication" ; rdfs:subClassOf ordo:Orphanet_262785 , ordo:Orphanet_377795 , ordo:Orphanet_813 . a rdfs:Class ; rdfs:label "Confirmation" ; rdfs:comment "Having been established or verified." ; rdfs:subClassOf . ordo:Orphanet_218436 a rdfs:Class ; rdfs:label "Rare cardiac rhythm disease"@en ; rdfs:subClassOf ordo:Orphanet_97929 . ordo:Orphanet_231117 a rdfs:Class ; rdfs:label "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15" ; rdfs:subClassOf ordo:Orphanet_116 , ordo:Orphanet_377795 . a rdfs:Class ; rdfs:label "hemosiderosis" ; rdfs:comment "Accumulation of iron in internal organs." ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "intestinal atresia (disease)" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_748 a rdfs:Class ; rdfs:label "Mendelian susceptibility to mycobacterial diseases" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183710 . a rdfs:Class ; rdfs:label "neurocutaneous syndrome" ; rdfs:comment "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." ; rdfs:subClassOf . ordo:Orphanet_261938 a rdfs:Class ; rdfs:label "Partial deletion of the short arm of chromosome 10" ; rdfs:subClassOf ordo:Orphanet_261811 . ordo:Orphanet_86867 a rdfs:Class ; rdfs:label "Nodal marginal zone B-cell lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_276580 a rdfs:Class ; rdfs:label "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_377788 , . ordo:Orphanet_228003 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to CORO1A deficiency" ; rdfs:subClassOf ordo:Orphanet_317416 , ordo:Orphanet_377788 . ordo:Orphanet_96346 a rdfs:Class ; rdfs:label "Anorectal malformation" ; rdfs:subClassOf ordo:Orphanet_183545 , ordo:Orphanet_98039 . ordo:Orphanet_79350 a rdfs:Class ; rdfs:label "3-phosphoserine phosphatase deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_35705 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "UMD Netherlands" ; rdfs:comment "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" ; rdfs:subClassOf . ordo:Orphanet_183757 a rdfs:Class ; rdfs:label "Rare genetic intellectual disability" ; rdfs:subClassOf ordo:Orphanet_71859 . ordo:Orphanet_300912 a rdfs:Class ; rdfs:label "Marginal zone lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_300842 . ordo:Orphanet_98628 a rdfs:Class ; rdfs:label "Syndromic corneal dystrophy" ; rdfs:comment "A corneal dystrophy (disease) that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_34533 , . ordo:Orphanet_314822 a rdfs:Class ; rdfs:label "Primary renal tubular acidosis" ; rdfs:subClassOf ordo:Orphanet_183592 , . a rdfs:Class ; rdfs:label "Greece" . a rdfs:Class ; rdfs:label "Banque Nationale de Données Maladies Rares" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_101988 a rdfs:Class ; rdfs:label "Primary immunodeficiency due to a defect in innate immunity" ; rdfs:subClassOf ordo:Orphanet_101997 , . ordo:Orphanet_143 a rdfs:Class ; rdfs:label "Parathyroid carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_417 a rdfs:Class ; rdfs:label "Neonatal severe primary hyperparathyroidism" ; rdfs:comment " 3.5 mM) from birth and associated with major hyperparathyroidism." ; rdfs:subClassOf ordo:Orphanet_2207 , ordo:Orphanet_377788 , ordo:Orphanet_93447 , . a rdfs:Class ; rdfs:label "metabolic epilepsy" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_207073 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of dysferlin" ; rdfs:subClassOf ordo:Orphanet_207049 . a rdfs:Class ; rdfs:label "Nurse" ; rdfs:comment "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)." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "entropion (disease)" ; rdfs:comment "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" ; rdfs:subClassOf . ordo:Orphanet_264944 a rdfs:Class ; rdfs:label "Secondary interstitial lung disease in childhood and adulthood"@en ; rdfs:subClassOf ordo:Orphanet_264757 . a rdfs:Class ; rdfs:label "Country Code" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_171898 a rdfs:Class ; rdfs:label "Lymphoid hemopathy"@en ; rdfs:subClassOf ordo:Orphanet_68347 . a rdfs:Class ; rdfs:label "macrocytic anemia (disease)" ; rdfs:comment "Anemia that is characterized by increased red blood cell volume." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Female Reproductive System Finding" ; rdfs:comment "Symptoms, physical examination results, and/or laboratory test results related to the female reproductive system." ; rdfs:subClassOf . ordo:Orphanet_522546 a rdfs:Class ; rdfs:label "Rare genetic disorder with lens opacification"@en ; rdfs:subClassOf ordo:Orphanet_183607 . ordo:Orphanet_636 a rdfs:Class ; rdfs:label "Neurofibromatosis type 1" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_156629 , ordo:Orphanet_166466 , ordo:Orphanet_166472 , ordo:Orphanet_183466 , ordo:Orphanet_377788 , ordo:Orphanet_98196 , ordo:Orphanet_98701 , , , , , . a rdfs:Class ; rdfs:label "Counseling" ; rdfs:comment "The act of receiving professional guidance in resolving personal conflicts and emotional problems." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hereditary hypophosphatemic rickets" ; rdfs:comment "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." ; rdfs:seeAlso ; rdfs:subClassOf , ordo:Orphanet_183592 , ordo:Orphanet_289098 . ordo:Orphanet_69076 a rdfs:Class ; rdfs:label "Renal glucosuria" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79178 , ordo:Orphanet_93593 , . a rdfs:Class ; rdfs:label "amyloidosis" ; rdfs:comment "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." ; rdfs:subClassOf , , . ordo:Orphanet_647 a rdfs:Class ; rdfs:label "Nijmegen breakage syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_169346 , ordo:Orphanet_183422 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , . ordo:Orphanet_169154 a rdfs:Class ; rdfs:label "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_317416 , ordo:Orphanet_377788 , . ordo:Orphanet_477808 a rdfs:Class ; rdfs:label "Other genetic dermis disorder"@en ; rdfs:subClassOf ordo:Orphanet_183472 . ordo:Orphanet_319574 a rdfs:Class ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_319539 , ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "liver disease" ; rdfs:comment "Any disease or dysfunction of the liver and the intrahepatic bile ducts." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "hyperparathyroidism" ; rdfs:comment "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary." ; rdfs:subClassOf . ordo:Orphanet_403 a rdfs:Class ; rdfs:label "Familial hyperaldosteronism type I" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_156629 , ordo:Orphanet_235936 , ordo:Orphanet_371861 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "epidermal appendage anomaly" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Healthcare Activity" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "porphyrin metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process." ; rdfs:subClassOf . ordo:Orphanet_262056 a rdfs:Class ; rdfs:label "Partial deletion of the long arm of chromosome 7" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_261796 . ordo:Orphanet_1652 a rdfs:Class ; rdfs:label "Dent disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , . ordo:Orphanet_2170 a rdfs:Class ; rdfs:label "Methylcobalamin deficiency type cblG" ; rdfs:comment "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 ." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183589 , ordo:Orphanet_377796 , ordo:Orphanet_622 . ordo:Orphanet_98613 a rdfs:Class ; rdfs:label "Conjunctival telangiectasia" ; rdfs:subClassOf ordo:Orphanet_98611 . a rdfs:Class ; rdfs:label "infectious disease of the nervous system" ; rdfs:comment "A infectious disease that involves the nervous system." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "central nervous system disease" ; rdfs:comment "A disease involving the central nervous system." ; rdfs:subClassOf . ordo:Orphanet_92 a rdfs:Class ; rdfs:label "Juvenile idiopathic arthritis"@en ; rdfs:subClassOf ordo:Orphanet_182231 , ordo:Orphanet_264704 , ordo:Orphanet_486955 . ordo:Orphanet_98685 a rdfs:Class ; rdfs:label "Oculomotor palsy" ; rdfs:comment "Paralysis of the oculomotor nerve." ; rdfs:subClassOf ordo:Orphanet_183616 , , , . ordo:Orphanet_102002 a rdfs:Class ; rdfs:label "Rare ataxia"@en ; rdfs:subClassOf ordo:Orphanet_98006 . a rdfs:Class ; rdfs:label "ESID" ; rdfs:comment "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:subClassOf . ordo:Orphanet_445018 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to LRBA deficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_883 a rdfs:Class ; rdfs:label "Extragonadal teratoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_183536 a rdfs:Class ; rdfs:label "Genetic congenital limb malformation" ; rdfs:subClassOf ordo:Orphanet_183530 . ordo:Orphanet_2481 a rdfs:Class ; rdfs:label "Neurocutaneous melanocytosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_443287 a rdfs:Class ; rdfs:label "ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor"@en ; rdfs:subClassOf ordo:Orphanet_99893 . ordo:Orphanet_98909 a rdfs:Class ; rdfs:label "Desminopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206650 , ordo:Orphanet_206662 , ordo:Orphanet_209041 , ordo:Orphanet_217610 , ordo:Orphanet_217635 , ordo:Orphanet_377788 , ordo:Orphanet_593 . ordo:Orphanet_293830 a rdfs:Class ; rdfs:label "Constitutional dyserythropoietic anemia" ; rdfs:subClassOf ordo:Orphanet_183651 , . a rdfs:Class ; rdfs:label "retinal cancer" ; rdfs:comment "Malignant neoplasm of retina." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "periodontal disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_713 a rdfs:Class ; rdfs:label "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency" ; rdfs:comment "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." ; rdfs:subClassOf ordo:Orphanet_182076 , ordo:Orphanet_206959 , ordo:Orphanet_308459 , ordo:Orphanet_377788 , ordo:Orphanet_79158 , ordo:Orphanet_79201 , ordo:Orphanet_98372 , . ordo:Orphanet_29073 a rdfs:Class ; rdfs:label "Multiple myeloma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Daughter" ; rdfs:comment "A female human offspring." ; rdfs:subClassOf . ordo:Orphanet_35909 a rdfs:Class ; rdfs:label "Combined deficiency of factor V and factor VIII" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68334 . ordo:Orphanet_782 a rdfs:Class ; rdfs:label "Axenfeld-Rieger syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108985 , ordo:Orphanet_108987 , ordo:Orphanet_117573 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_557 , ordo:Orphanet_95495 , ordo:Orphanet_98558 , ordo:Orphanet_98634 , ordo:Orphanet_98638 . ordo:Orphanet_276061 a rdfs:Class ; rdfs:label "Genetic frontotemporal degeneration with dementia" ; rdfs:subClassOf ordo:Orphanet_276058 . ordo:Orphanet_1872 a rdfs:Class ; rdfs:label "Cone rod dystrophy" ; rdfs:comment "Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98666 . ordo:Orphanet_86896 a rdfs:Class ; rdfs:label "Histiocytic sarcoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "urinary system neoplasm" ; rdfs:comment "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003" ; rdfs:subClassOf , . ordo:Orphanet_207028 a rdfs:Class ; rdfs:label "Cerebellar ataxia with peripheral neuropathy" ; rdfs:subClassOf ordo:Orphanet_207025 . a rdfs:Class ; rdfs:label "parkinsonian disorder" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_2836 a rdfs:Class ; rdfs:label "PEHO syndrome" ; rdfs:comment "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_166463 , ordo:Orphanet_183500 , ordo:Orphanet_377788 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , ordo:Orphanet_98677 , , , . a rdfs:Class ; rdfs:label "Person" ; rdfs:comment "A human being." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "digestive system cancer" ; rdfs:comment "A primary or metastatic malignant neoplasm involving any part of the digestive system." ; rdfs:subClassOf , . ordo:Orphanet_842 a rdfs:Class ; rdfs:label "Testicular seminomatous germ cell tumor"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_261884 a rdfs:Class ; rdfs:label "Partial deletion of the short arm of chromosome 4" ; rdfs:subClassOf ordo:Orphanet_261781 . ordo:Orphanet_47 a rdfs:Class ; rdfs:label "X-linked agammaglobulinemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_229717 , ordo:Orphanet_377796 . a rdfs:Class ; rdfs:label "Personal Attribute" ; rdfs:comment "The distinguishing qualities or prominent aspects of an individual person." ; rdfs:subClassOf . ordo:Orphanet_165988 a rdfs:Class ; rdfs:label "Diazoxide-resistant diffuse hyperinsulinism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_276585 . ordo:Orphanet_95455 a rdfs:Class ; rdfs:label "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_79361 a rdfs:Class ; rdfs:label "Inherited epidermolysis bullosa" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183426 , ordo:Orphanet_79353 , , , . ordo:Orphanet_271844 a rdfs:Class ; rdfs:label "Genetic urogenital tumor" ; rdfs:subClassOf ordo:Orphanet_68336 , . a rdfs:Class ; rdfs:label "panuveitis" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_314753 a rdfs:Class ; rdfs:label "Functioning pituitary adenoma"@en ; rdfs:subClassOf ordo:Orphanet_99408 . a rdfs:Class ; rdfs:label "hyperopia" ; rdfs:comment "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)" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "neonatal/infantile epilepsy syndrome" ; rdfs:comment "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life." ; rdfs:subClassOf ordo:Orphanet_166463 . ordo:Orphanet_183509 a rdfs:Class ; rdfs:label "Rare genetic headache" ; rdfs:subClassOf ordo:Orphanet_71859 , , . ordo:Orphanet_3033 a rdfs:Class ; rdfs:label "Renal tubular dysgenesis"@en ; rdfs:subClassOf ordo:Orphanet_377789 . ordo:Orphanet_102373 a rdfs:Class ; rdfs:label "Primary glomerular disease" ; rdfs:subClassOf ordo:Orphanet_183586 . ordo:Orphanet_33402 a rdfs:Class ; rdfs:label "Pediatric hepatocellular carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "spondylocostal dysostosis" ; rdfs:comment "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)." ; rdfs:subClassOf , . ordo:Orphanet_595 a rdfs:Class ; rdfs:label "Centronuclear myopathy" ; rdfs:comment "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_97245 , ordo:Orphanet_98578 , ordo:Orphanet_98689 , . ordo:Orphanet_98538 a rdfs:Class ; rdfs:label "Ataxia with dementia" ; rdfs:subClassOf ordo:Orphanet_276058 , ordo:Orphanet_98534 . a rdfs:Class ; rdfs:label "classic complement early component deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "lethal multiple congenital anomalies/dysmorphic syndrome" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "mitochondrial disease with epilepsy" ; rdfs:subClassOf , , , . a rdfs:Class ; rdfs:label "Biological Relative, Paternal" ; rdfs:comment "Any individual related biologically to an individual's father." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "skin vascular disease" ; rdfs:comment "A disease that involves the superficial vasculature." ; rdfs:subClassOf , . ordo:Orphanet_98054 a rdfs:Class ; rdfs:label "Rare genetic cardiac disease" ; rdfs:subClassOf ordo:Orphanet_98053 , , . ordo:Orphanet_732 a rdfs:Class ; rdfs:label "Polymyositis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "National Provider Identifier" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_228184 a rdfs:Class ; rdfs:label "Heart-hand syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_404571 , ordo:Orphanet_404577 . a rdfs:Class ; rdfs:label "Half Sister" ; rdfs:comment "A female sibling with whom you share a single parent." ; rdfs:subClassOf , . ordo:Orphanet_98569 a rdfs:Class ; rdfs:label "Secondary entropion" ; rdfs:subClassOf ordo:Orphanet_98568 . ordo:Orphanet_211237 a rdfs:Class ; rdfs:label "Rare vascular tumor"@en ; rdfs:subClassOf ordo:Orphanet_68419 , ordo:Orphanet_98057 . ordo:Orphanet_308459 a rdfs:Class ; rdfs:label "Disorder of glycolysis" ; rdfs:subClassOf ordo:Orphanet_254746 , ordo:Orphanet_79161 , ordo:Orphanet_79224 . a rdfs:Class ; rdfs:label "hereditary amyloidosis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf , ordo:Orphanet_271870 , ordo:Orphanet_68367 . ordo:Orphanet_377796 a rdfs:Class ; rdfs:label "clinical subtype"@en ; rdfs:subClassOf ordo:Orphanet_C001 . a rdfs:Class ; rdfs:label "congenital anemia" ; rdfs:comment "Anemia, the cause of which is present at birth." ; rdfs:subClassOf , . ordo:Orphanet_140997 a rdfs:Class ; rdfs:label "Orofaciodigital syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_156215 , ordo:Orphanet_156237 , ordo:Orphanet_183576 , ordo:Orphanet_294959 . ordo:Orphanet_97245 a rdfs:Class ; rdfs:label "Congenital myopathy" ; rdfs:subClassOf ordo:Orphanet_206656 . ordo:Orphanet_248358 a rdfs:Class ; rdfs:label "Rare thrombotic disorder due to a coagulation factors defect"@en ; rdfs:subClassOf ordo:Orphanet_182054 . ordo:Orphanet_98578 a rdfs:Class ; rdfs:label "Ptosis" ; rdfs:subClassOf ordo:Orphanet_98577 . a rdfs:Class ; rdfs:label "hematologic disease" ; rdfs:comment "A disease involving the hematopoietic system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "ovarian carcinoma" ; rdfs:comment "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" ; rdfs:subClassOf ordo:Orphanet_398934 . ordo:Orphanet_307711 a rdfs:Class ; rdfs:label "Disease with diffuse palmoplantar keratoderma as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_307141 . ordo:Orphanet_52 a rdfs:Class ; rdfs:label "Alagille syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_108973 , ordo:Orphanet_108987 , ordo:Orphanet_156532 , ordo:Orphanet_156607 , ordo:Orphanet_183422 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_98638 . ordo:Orphanet_30924 a rdfs:Class ; rdfs:label "Primary hypomagnesemia with secondary hypocalcemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_306522 , ordo:Orphanet_377788 . ordo:Orphanet_3409 a rdfs:Class ; rdfs:label "Urban-Rogers-Meyer syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , , . a rdfs:Class ; rdfs:label "pancreatitis" ; rdfs:comment "Inflammation of the pancreas." ; rdfs:subClassOf , . ordo:Orphanet_183573 a rdfs:Class ; rdfs:label "Genetic overgrowth/obesity syndrome" ; rdfs:subClassOf ordo:Orphanet_183530 , . a rdfs:Class ; rdfs:label "rare hypothalamic or pituitary disease" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_375 a rdfs:Class ; rdfs:label "Anti-glomerular basement membrane disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_397964 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to MALT1 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_79224 a rdfs:Class ; rdfs:label "Disorder of purine or pyrimidine metabolism" ; rdfs:subClassOf ordo:Orphanet_68367 . ordo:Orphanet_309001 a rdfs:Class ; rdfs:label "Disorder of carbohydrate absorption and transport" ; rdfs:subClassOf ordo:Orphanet_79161 . ordo:Orphanet_182076 a rdfs:Class ; rdfs:label "Syndromic neurometabolic disease with X-linked intellectual disability" ; rdfs:subClassOf ordo:Orphanet_68385 , ordo:Orphanet_98464 . ordo:Orphanet_79161 a rdfs:Class ; rdfs:label "Disorder of carbohydrate metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process." ; rdfs:subClassOf ordo:Orphanet_68367 , . ordo:Orphanet_2140 a rdfs:Class ; rdfs:label "Congenital diaphragmatic hernia"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_183454 a rdfs:Class ; rdfs:label "Genetic nail anomaly" ; rdfs:comment "An instance of nail anomaly that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183447 , . ordo:Orphanet_275844 a rdfs:Class ; rdfs:label "Pulmonary hypertension with unclear multifactorial mechanism"@en ; rdfs:subClassOf ordo:Orphanet_71198 . ordo:Orphanet_98904 a rdfs:Class ; rdfs:label "Congenital myopathy with excess of thin filaments" ; rdfs:subClassOf ordo:Orphanet_209059 , ordo:Orphanet_377788 , ordo:Orphanet_97245 . ordo:Orphanet_329918 a rdfs:Class ; rdfs:label "Non-immunoglobulin-mediated membranoproliferative glomerulonephritis" ; rdfs:subClassOf ordo:Orphanet_54370 . a rdfs:Class ; rdfs:label "autosomal dominant disease" ; rdfs:comment "Autosomal dominant form of disease." ; rdfs:subClassOf . ordo:Orphanet_33069 a rdfs:Class ; rdfs:label "Dravet syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_1934 , ordo:Orphanet_377788 , ordo:Orphanet_98258 , , . ordo:Orphanet_391487 a rdfs:Class ; rdfs:label "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_1334 , ordo:Orphanet_169355 , ordo:Orphanet_183643 , ordo:Orphanet_363300 , ordo:Orphanet_391311 , , , . ordo:Orphanet_281241 a rdfs:Class ; rdfs:label "Autosomal ichthyosis syndrome with fatal disease course" ; rdfs:subClassOf ordo:Orphanet_281217 . a rdfs:Class ; rdfs:label "intestinal motility disease" ; rdfs:comment "A disease that has its basis in the disruption of intestinal motility." ; rdfs:subClassOf . ordo:Orphanet_1851 a rdfs:Class ; rdfs:label "Multicystic dysplastic kidney" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_357506 , ordo:Orphanet_377791 , ordo:Orphanet_93587 . ordo:Orphanet_728 a rdfs:Class ; rdfs:label "Relapsing polychondritis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98558 a rdfs:Class ; rdfs:label "Rare eye disease due to a differentiation anomaly" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183557 . ordo:Orphanet_79364 a rdfs:Class ; rdfs:label "Alopecia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183450 , . a rdfs:Class ; rdfs:label "Physiotherapist" ; rdfs:comment "A healthcare profession that assesses, diagnoses, treats, and works to prevent disease, disability, and movement disorders through physical means." ; rdfs:subClassOf . ordo:Orphanet_257 a rdfs:Class ; rdfs:label "Epidermolysis bullosa simplex with muscular dystrophy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102015 , ordo:Orphanet_139027 , ordo:Orphanet_158665 , ordo:Orphanet_209196 , ordo:Orphanet_263676 , ordo:Orphanet_377788 , , . ordo:Orphanet_69028 a rdfs:Class ; rdfs:label "Syndrome with brachydactyly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_404577 , . ordo:Orphanet_660 a rdfs:Class ; rdfs:label "Omphalocele"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_325448 a rdfs:Class ; rdfs:label "Leydig cell hypoplasia due to LHB deficiency" ; rdfs:comment "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." ; rdfs:subClassOf ordo:Orphanet_377796 , ordo:Orphanet_755 , . ordo:Orphanet_139491 a rdfs:Class ; rdfs:label "Hemochromatosis type 4" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_220489 , ordo:Orphanet_377788 , . ordo:Orphanet_156159 a rdfs:Class ; rdfs:label "Isolated dystonia" ; rdfs:comment "A dystonia (disease) that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_391799 , ordo:Orphanet_68363 . ordo:Orphanet_84271 a rdfs:Class ; rdfs:label "Sporadic idiopathic steroid-resistant nephrotic syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377792 , ordo:Orphanet_656 . a rdfs:Class ; rdfs:label "nephropathy-associated ciliopathy" ; rdfs:subClassOf , . ordo:Orphanet_83463 a rdfs:Class ; rdfs:label "Microtia"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_98047 a rdfs:Class ; rdfs:label "Rare infertility"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_98130 a rdfs:Class ; rdfs:label "Autosomal trisomy" ; rdfs:comment "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." ; rdfs:subClassOf ordo:Orphanet_98127 . a rdfs:Class ; rdfs:label "acanthosis nigricans" ; rdfs:comment "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." ; rdfs:subClassOf , ordo:Orphanet_183463 . ordo:Orphanet_1359 a rdfs:Class ; rdfs:label "Carney complex" ; rdfs:comment "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas." ; rdfs:subClassOf ordo:Orphanet_100094 , ordo:Orphanet_183466 , ordo:Orphanet_271841 , ordo:Orphanet_377788 , ordo:Orphanet_98587 , ordo:Orphanet_98591 , , . a rdfs:Class ; rdfs:label "psoriasis 14, pustular" ; rdfs:comment "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "familial ovarian carcinoma" ; rdfs:comment "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma." ; rdfs:subClassOf , ordo:Orphanet_183734 . a rdfs:Class ; rdfs:label "familial acanthosis nigricans" ; rdfs:comment "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf . ordo:Orphanet_68347 a rdfs:Class ; rdfs:label "Tumor of hematopoietic and lymphoid tissues"@en ; rdfs:subClassOf ordo:Orphanet_97992 , ordo:Orphanet_98057 . ordo:Orphanet_139039 a rdfs:Class ; rdfs:label "Orofacial clefting syndrome" ; rdfs:subClassOf ordo:Orphanet_156237 . ordo:Orphanet_79273 a rdfs:Class ; rdfs:label "Hereditary coproporphyria" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_95157 . ordo:Orphanet_98599 a rdfs:Class ; rdfs:label "Eyebrow/eyelashes structural anomaly" ; rdfs:subClassOf ordo:Orphanet_98594 . ordo:Orphanet_207018 a rdfs:Class ; rdfs:label "Rare hereditary metabolic disease with peripheral neuropathy" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_207015 . a rdfs:Class ; rdfs:label "soft tissue disease" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_96263 a rdfs:Class ; rdfs:label "48,XXXY syndrome" ; rdfs:comment "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_165707 , ordo:Orphanet_263720 , ordo:Orphanet_325546 , ordo:Orphanet_377789 , ordo:Orphanet_71859 , ordo:Orphanet_98313 , , . ordo:Orphanet_371064 a rdfs:Class ; rdfs:label "Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_182073 , ordo:Orphanet_371047 . ordo:Orphanet_71202 a rdfs:Class ; rdfs:label "Rare hemorrhagic disorder due to a constitutional platelet anomaly" ; rdfs:comment "Editor note: consider merge into parent" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183654 , ordo:Orphanet_248326 , , . a rdfs:Class ; rdfs:label "syndrome caused by partial chromosomal deletion" ; rdfs:comment "Editor note: this is used in DOID to encompass typically partial deletions" ; rdfs:subClassOf ordo:Orphanet_68335 . ordo:Orphanet_440 a rdfs:Class ; rdfs:label "Familial hypospadias" ; rdfs:subClassOf ordo:Orphanet_156622 , ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease" ; rdfs:subClassOf . ordo:Orphanet_79173 a rdfs:Class ; rdfs:label "Disorder of methionine cycle and sulfur amino acid metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Continue" ; rdfs:comment "Remain in force or carry on without letup; keep or maintain in unaltered condition; exist in time or space without stop or interruption." ; rdfs:subClassOf . ordo:Orphanet_98596 a rdfs:Class ; rdfs:label "Eyebrow hypertrophy" ; rdfs:subClassOf ordo:Orphanet_98594 . a rdfs:Class ; rdfs:label "kidney cancer" ; rdfs:comment "Primary or metastatic malignant neoplasm involving the kidney." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Biological Grandmother" ; rdfs:comment "A female relative who is the biological mother of either the biological mother or the biological father." ; rdfs:subClassOf , . ordo:Orphanet_108973 a rdfs:Class ; rdfs:label "Syndromic visceral malformation" ; rdfs:subClassOf ordo:Orphanet_183548 . a rdfs:Class ; rdfs:label "disorder of acid-base balance" ; rdfs:subClassOf . ordo:Orphanet_71864 a rdfs:Class ; rdfs:label "Muscular channelopathy"@en ; rdfs:subClassOf ordo:Orphanet_68381 . ordo:Orphanet_2322 a rdfs:Class ; rdfs:label "Kabuki syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_117573 , ordo:Orphanet_138063 , ordo:Orphanet_183570 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , ordo:Orphanet_98568 , ordo:Orphanet_98570 , , , , . ordo:Orphanet_276608 a rdfs:Class ; rdfs:label "Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia" ; rdfs:comment "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" ; rdfs:subClassOf ordo:Orphanet_276525 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Eurocat Northern Netherlands" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_231625 a rdfs:Class ; rdfs:label "Adrenocortical carcinoma with pure aldosterone hypersecretion"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_154 a rdfs:Class ; rdfs:label "Familial isolated dilated cardiomyopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_207085 , ordo:Orphanet_217607 . ordo:Orphanet_904 a rdfs:Class ; rdfs:label "Williams syndrome" ; rdfs:comment "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)" ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_108987 , ordo:Orphanet_156532 , ordo:Orphanet_156629 , ordo:Orphanet_183570 , ordo:Orphanet_262056 , ordo:Orphanet_306765 , ordo:Orphanet_377789 , ordo:Orphanet_98574 , , , , , . ordo:Orphanet_79370 a rdfs:Class ; rdfs:label "Syndromic nail anomaly" ; rdfs:comment "A nail anomaly that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183454 , . ordo:Orphanet_317428 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to ORAI1 deficiency" ; rdfs:comment " 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." ; rdfs:subClassOf ordo:Orphanet_169090 , ordo:Orphanet_377796 . a rdfs:Class ; rdfs:label "disease of catalytic activity" ; rdfs:subClassOf . ordo:Orphanet_352728 a rdfs:Class ; rdfs:label "Disorder of melanin metabolism" ; rdfs:subClassOf ordo:Orphanet_79062 . ordo:Orphanet_248296 a rdfs:Class ; rdfs:label "Constitutional deficiency anemia" ; rdfs:subClassOf ordo:Orphanet_183651 , . ordo:Orphanet_93126 a rdfs:Class ; rdfs:label "Pauci-immune glomerulonephritis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_522526 a rdfs:Class ; rdfs:label "Rare genetic palpebral disorder"@en ; rdfs:subClassOf ordo:Orphanet_183557 , ordo:Orphanet_522524 . a rdfs:Class ; rdfs:label "telangiectasis" ; rdfs:comment "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "synaptopathy" ; rdfs:comment "A disease caused by dysfunction of synapses." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Unified European Registry for Inherited Metabolic Disorders" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_1797 a rdfs:Class ; rdfs:label "Autosomal dominant spondylocostal dysostosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93454 , , . ordo:Orphanet_2697 a rdfs:Class ; rdfs:label "Arthrogryposis - renal dysfunction - cholestasis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_1143 , ordo:Orphanet_139009 , ordo:Orphanet_281241 , ordo:Orphanet_309816 , ordo:Orphanet_377789 , ordo:Orphanet_93547 . a rdfs:Class ; rdfs:label "scalp disease" ; rdfs:comment "A disease or disorder that involves the scalp." ; rdfs:subClassOf . ordo:Orphanet_2666 a rdfs:Class ; rdfs:label "Adult familial nephronophthisis - spastic quadriparesia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_93587 . a rdfs:Class ; rdfs:label "Unique Identifier" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Term Birth" ; rdfs:comment "Birth at greater than or equal to 37 weeks using best estimated due date." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "inborn serine deficiency" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process." ; rdfs:subClassOf ordo:Orphanet_79194 . a rdfs:Class ; rdfs:label "autoinflammatory syndrome" ; rdfs:comment "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." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "Property or Attribute" ; rdfs:comment "A distinguishing quality or prominent aspect of a person, object, action, process, or substance." ; rdfs:subClassOf . ordo:Orphanet_820 a rdfs:Class ; rdfs:label "Sneddon syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "rare breast malformation" ; rdfs:seeAlso ; rdfs:subClassOf , . ordo:Orphanet_98594 a rdfs:Class ; rdfs:label "Rare eyebrow/eyelashes anomaly" ; rdfs:comment "Editor note: does not align with anatomy" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_98560 . a rdfs:Class ; rdfs:label "polydactyly (disease)" ; rdfs:comment "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." ; rdfs:subClassOf , ordo:Orphanet_404571 . a rdfs:Class ; rdfs:label "primary interstitial lung disease specific to childhood" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_54251 a rdfs:Class ; rdfs:label "Corticosteroid-sensitive aseptic abscess syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_79353 a rdfs:Class ; rdfs:label "Epidermal disease"@en ; rdfs:subClassOf ordo:Orphanet_89826 . a rdfs:Class ; rdfs:label "bone remodeling disease" ; rdfs:comment "A bone disease that results_in formation or resorption abnormalities located_in bone." ; rdfs:subClassOf . ordo:Orphanet_268 a rdfs:Class ; rdfs:label "Autosomal recessive limb-girdle muscular dystrophy type 2B" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102015 , ordo:Orphanet_207073 , ordo:Orphanet_377788 . ordo:Orphanet_79444 a rdfs:Class ; rdfs:label "Pseudohypoparathyroidism type 1C" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_399388 , ordo:Orphanet_665 , . ordo:Orphanet_183681 a rdfs:Class ; rdfs:label "Functional neutrophil defect" ; rdfs:subClassOf . ordo:Orphanet_180250 a rdfs:Class ; rdfs:label "Rare breast tumor"@en ; rdfs:subClassOf ordo:Orphanet_98063 . a rdfs:Class ; rdfs:label "Patient Care" ; rdfs:comment "Any of the services rendered for the benefit of a patient." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "adrenal gland disease" ; rdfs:comment "A disease involving the adrenal gland." ; rdfs:subClassOf , . ordo:Orphanet_1332 a rdfs:Class ; rdfs:label "Medullary thyroid carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_109007 a rdfs:Class ; rdfs:label "Arthrogryposis syndrome" ; rdfs:subClassOf ordo:Orphanet_404577 . ordo:Orphanet_25 a rdfs:Class ; rdfs:label "Glutaryl-CoA dehydrogenase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , . a rdfs:Class ; rdfs:label "connective tissue neoplasm" ; rdfs:comment "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." ; rdfs:subClassOf , . ordo:Orphanet_264750 a rdfs:Class ; rdfs:label "Langerhans cell histiocytosis specific to adulthood"@en ; rdfs:subClassOf ordo:Orphanet_264745 . a rdfs:Class ; rdfs:label "adrenal carcinoma" ; rdfs:comment "A carcinoma involving a adrenal gland." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Rare Kidney Disease Biobank" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "face disease" ; rdfs:comment "A disease or disorder that involves the face." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Sister" ; rdfs:comment "A female sibling." ; rdfs:subClassOf . ordo:Orphanet_182070 a rdfs:Class ; rdfs:label "Rare neurodegenerative disease"@en ; rdfs:subClassOf ordo:Orphanet_98006 . a rdfs:Class ; rdfs:label "Niemann-Pick disease" ; rdfs:comment "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." ; rdfs:subClassOf , , ordo:Orphanet_271870 , ordo:Orphanet_79225 . ordo:Orphanet_99849 a rdfs:Class ; rdfs:label "Glycogen storage disease due to muscle beta-enolase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206959 , ordo:Orphanet_377788 , ordo:Orphanet_79201 . ordo:Orphanet_3027 a rdfs:Class ; rdfs:label "Caudal regression sequence" ; rdfs:comment "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_165707 , ordo:Orphanet_268843 , ordo:Orphanet_357506 , ordo:Orphanet_377789 , ordo:Orphanet_557 , ordo:Orphanet_93547 , . a rdfs:Class ; rdfs:label "tibia, hypoplasia or aplasia of, with polydactyly" ; rdfs:subClassOf . ordo:Orphanet_325511 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to cholesterol synthesis defect" ; rdfs:subClassOf ordo:Orphanet_90783 . ordo:Orphanet_98505 a rdfs:Class ; rdfs:label "Genetic motor neuron disease" ; rdfs:comment "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183497 , ordo:Orphanet_183500 , ordo:Orphanet_98497 , . a rdfs:Class ; rdfs:label "genetic otorhinolaryngologic disease" ; rdfs:comment "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Monaco" . ordo:Orphanet_156532 a rdfs:Class ; rdfs:label "Rare syndrome with cardiac malformations" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_97965 , ordo:Orphanet_98054 . a rdfs:Class ; rdfs:label "anemia due to erythrocyte enzyme disorder" ; rdfs:comment "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "miscellaneous movement disorder due to neurodegenerative disease" ; rdfs:subClassOf . ordo:Orphanet_275803 a rdfs:Class ; rdfs:label "Pulmonary arterial hypertension associated with congenital heart disease"@en ; rdfs:subClassOf ordo:Orphanet_275791 . ordo:Orphanet_263440 a rdfs:Class ; rdfs:label "Neuroacanthocytosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_158266 , ordo:Orphanet_276058 , ordo:Orphanet_306695 , ordo:Orphanet_307058 , ordo:Orphanet_98534 . a rdfs:Class ; rdfs:label "disease code" ; rdfs:comment "A system of words, letters, figures, or symbols used to represent disease" ; rdfs:subClassOf . a rdf:Property ; rdfs:range . ordo:Orphanet_717 a rdfs:Class ; rdfs:label "Catecholamine-producing tumor"@en ; rdfs:subClassOf ordo:Orphanet_100091 . ordo:Orphanet_93587 a rdfs:Class ; rdfs:label "Familial cystic renal disease" ; rdfs:comment "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_98056 , . a rdfs:Class ; rdfs:label "arterial disorder" ; rdfs:comment "An impairment of the structure or function of the blood vessels which carry blood away from the heart." ; rdfs:subClassOf . ordo:Orphanet_325351 a rdfs:Class ; rdfs:label "46,XY disorder of sex development of endocrine origin"@en ; rdfs:subClassOf ordo:Orphanet_98085 . ordo:Orphanet_1775 a rdfs:Class ; rdfs:label "Dyskeratosis congenita" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_183466 , ordo:Orphanet_183487 , ordo:Orphanet_183619 , ordo:Orphanet_222628 , ordo:Orphanet_331217 , ordo:Orphanet_377788 , ordo:Orphanet_68383 , ordo:Orphanet_79373 , ordo:Orphanet_98196 , ordo:Orphanet_98464 , ordo:Orphanet_98605 , ordo:Orphanet_98616 , , , , , , . ordo:Orphanet_99867 a rdfs:Class ; rdfs:label "Thymoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "sex-linked disease" ; rdfs:subClassOf . ordo:Orphanet_183637 a rdfs:Class ; rdfs:label "Rare genetic adrenal disease" ; rdfs:subClassOf ordo:Orphanet_156638 . a rdfs:Class ; rdfs:label "neuroendocrine disease" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_2311 a rdfs:Class ; rdfs:label "Autosomal recessive spondylocostal dysostosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_309505 , ordo:Orphanet_371195 , ordo:Orphanet_377789 , ordo:Orphanet_93454 , , . a rdfs:Class ; rdfs:label "Weight" ; rdfs:comment "The vertical force exerted by a mass as a result of gravity." ; rdfs:subClassOf . ordo:Orphanet_93547 a rdfs:Class ; rdfs:label "Syndromic renal or urinary tract malformation" ; rdfs:comment "A renal or urinary tract malformation that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183539 , . a rdfs:Class ; rdfs:label "Spain" . a rdfs:Class ; rdfs:label "thiamine-responsive dysfunction syndrome" ; rdfs:subClassOf ordo:Orphanet_298644 . a rdfs:Class ; rdfs:label "biliary tract disease" ; rdfs:comment "A disease involving the biliary tree." ; rdfs:subClassOf . ordo:Orphanet_2869 a rdfs:Class ; rdfs:label "Peutz-Jeghers syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183422 , ordo:Orphanet_183466 , ordo:Orphanet_363314 , ordo:Orphanet_377788 , ordo:Orphanet_98196 , ordo:Orphanet_98587 , ordo:Orphanet_98615 , . ordo:Orphanet_172 a rdfs:Class ; rdfs:label "Progressive familial intrahepatic cholestasis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_284385 , ordo:Orphanet_309816 , ordo:Orphanet_377788 , . ordo:Orphanet_285014 a rdfs:Class ; rdfs:label "Rare disease with thoracic aortic aneurysm and aortic dissection" ; rdfs:subClassOf ordo:Orphanet_233655 . ordo:Orphanet_79381 a rdfs:Class ; rdfs:label "Other dermis disorder"@en ; rdfs:subClassOf ordo:Orphanet_79377 . ordo:Orphanet_98689 a rdfs:Class ; rdfs:label "Myopathy with eye involvement" ; rdfs:subClassOf ordo:Orphanet_183616 , . a rdfs:Class ; rdfs:label "hypoparathyroidism" ; rdfs:comment "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 ]" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_325055 a rdfs:Class ; rdfs:label "46,XX disorder of gonadal development" ; rdfs:subClassOf ordo:Orphanet_2982 , ordo:Orphanet_325697 . ordo:Orphanet_181368 a rdfs:Class ; rdfs:label "Rare insulin-resistance syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101952 , ordo:Orphanet_183625 . ordo:Orphanet_2299 a rdfs:Class ; rdfs:label "Aortic arch interruption"@en ; rdfs:subClassOf ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "interstitial lung disease in childhood and adulthood" ; rdfs:subClassOf . ordo:Orphanet_98714 a rdfs:Class ; rdfs:label "Metabolic disease with macular cherry-red spot" ; rdfs:subClassOf ordo:Orphanet_98710 . a rdfs:Class ; rdfs:label "genetic otorhinolaryngological malformation" ; rdfs:subClassOf , ordo:Orphanet_183583 . ordo:Orphanet_180772 a rdfs:Class ; rdfs:label "Rare disease with autism" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_168778 , . ordo:Orphanet_97978 a rdfs:Class ; rdfs:label "Rare endocrine disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_599 a rdfs:Class ; rdfs:label "Distal myopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_98473 . ordo:Orphanet_15 a rdfs:Class ; rdfs:label "Achondroplasia" ; rdfs:comment "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_364536 , ordo:Orphanet_377788 , ordo:Orphanet_93420 , , . ordo:Orphanet_319462 a rdfs:Class ; rdfs:label "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" ; rdfs:subClassOf ordo:Orphanet_319328 , ordo:Orphanet_377788 . ordo:Orphanet_53715 a rdfs:Class ; rdfs:label "Tumoral calcinosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183487 , ordo:Orphanet_183634 , . a rdfs:Class ; rdfs:label "sebaceous gland disease" ; rdfs:comment "A skin disease that is located_in the sebaceous gland." ; rdfs:subClassOf , , . ordo:Orphanet_226292 a rdfs:Class ; rdfs:label "Permanent congenital hypothyroidism" ; rdfs:comment "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." ; rdfs:subClassOf ordo:Orphanet_156643 , ordo:Orphanet_442 , . ordo:Orphanet_31827 a rdfs:Class ; rdfs:label "Paraquat poisoning"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98602 a rdfs:Class ; rdfs:label "Rare lacrimal system disease" ; rdfs:subClassOf ordo:Orphanet_183598 , . ordo:Orphanet_790 a rdfs:Class ; rdfs:label "Retinoblastoma" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_99978 a rdfs:Class ; rdfs:label "Klatskin tumor"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Dataset" ; rdfs:comment "A collection of data, published or curated by a single agent, and available for access or download in one or more formats." ; rdfs:subClassOf . a rdf:Property ; rdfs:range . a rdfs:Class ; rdfs:label "neutropenia" ; rdfs:comment "A decrease in the number of neutrophils found in the blood." ; rdfs:subClassOf . ordo:Orphanet_169467 a rdfs:Class ; rdfs:label "Recurrent Neisseria infections due to factor D deficiency" ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_95699 a rdfs:Class ; rdfs:label "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139393 , ordo:Orphanet_181437 , ordo:Orphanet_377788 , ordo:Orphanet_418 , ordo:Orphanet_90776 , ordo:Orphanet_90786 . a rdfs:Class ; rdfs:label "dyskeratosis congenita, X-linked" ; rdfs:comment "X-linked form of dyskeratosis congenita." ; rdfs:subClassOf ordo:Orphanet_1775 . ordo:Orphanet_168778 a rdfs:Class ; rdfs:label "Rare pervasive developmental disorder" ; rdfs:subClassOf ordo:Orphanet_71859 , ordo:Orphanet_98033 . ordo:Orphanet_331 a rdfs:Class ; rdfs:label "Congenital factor XIII deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68334 , . ordo:Orphanet_3156 a rdfs:Class ; rdfs:label "Senior-Loken syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , ordo:Orphanet_93587 , ordo:Orphanet_98657 , , , , . ordo:Orphanet_209203 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -" ; rdfs:subClassOf ordo:Orphanet_207049 . a rdfs:Class ; rdfs:label "palmoplantar keratosis" ; rdfs:comment "A keratosis characterized by abnormal thickening of the palms and the soles." ; rdfs:subClassOf . ordo:Orphanet_476113 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to TFRC deficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_79390 a rdfs:Class ; rdfs:label "Rare photodermatosis"@en ; rdfs:subClassOf ordo:Orphanet_89826 . ordo:Orphanet_98683 a rdfs:Class ; rdfs:label "Syndrome with a symptomatic strabismus" ; rdfs:subClassOf ordo:Orphanet_98681 . a rdfs:Class ; rdfs:label "female infertility" ; rdfs:comment "Diminished or absent ability of a female to achieve conception." ; rdfs:subClassOf , . ordo:Orphanet_108999 a rdfs:Class ; rdfs:label "Rare disorder due to toxic effects"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_89936 a rdfs:Class ; rdfs:label "X-linked hypophosphatemia" ; rdfs:comment "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." ; rdfs:subClassOf ordo:Orphanet_377788 , , . ordo:Orphanet_418 a rdfs:Class ; rdfs:label "Congenital adrenal hyperplasia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101960 , ordo:Orphanet_156643 , ordo:Orphanet_181412 , ordo:Orphanet_90692 , , , . a rdfs:Class ; rdfs:label "bone development disease" ; rdfs:comment "A disease involving the bone development." ; rdfs:subClassOf . ordo:Orphanet_79213 a rdfs:Class ; rdfs:label "Mucopolysaccharidosis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_68366 , ordo:Orphanet_79161 , ordo:Orphanet_98638 . a rdfs:Class ; rdfs:label "X-linked recessive disease" ; rdfs:comment "X-linked recessive form of disease." ; rdfs:subClassOf . ordo:Orphanet_101050 a rdfs:Class ; rdfs:label "Familial hypocalciuric hypercalcemia type 3" ; rdfs:comment "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_405 . a rdfs:Class ; rdfs:label "electroclinical syndrome" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_98495 a rdfs:Class ; rdfs:label "Genetic neuromuscular junction disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183497 , ordo:Orphanet_98497 , , . ordo:Orphanet_1330 a rdfs:Class ; rdfs:label "Partial atrioventricular canal"@en ; rdfs:subClassOf ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "hypotrichosis" ; rdfs:comment "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body." ; rdfs:subClassOf . ordo:Orphanet_98415 a rdfs:Class ; rdfs:label "Vitamin B12- and folate-independent constitutional megaloblastic anemia" ; rdfs:subClassOf ordo:Orphanet_248296 , . a rdfs:Class ; rdfs:label "hereditary nonpolyposis colon cancer" ; rdfs:comment "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." ; rdfs:subClassOf , ordo:Orphanet_271835 . ordo:Orphanet_1667 a rdfs:Class ; rdfs:label "Wolcott-Rallison syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183625 , ordo:Orphanet_253 , ordo:Orphanet_377788 , , , . ordo:Orphanet_169361 a rdfs:Class ; rdfs:label "Immune dysregulation disease with immunodeficiency" ; rdfs:subClassOf ordo:Orphanet_179006 . a rdfs:Class ; rdfs:label "material entity"@en ; rdfs:comment "An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time."@en ; rdfs:subClassOf . ordo:Orphanet_522572 a rdfs:Class ; rdfs:label "Rare genetic retinal disorder"@en ; rdfs:subClassOf ordo:Orphanet_522570 . ordo:Orphanet_183490 a rdfs:Class ; rdfs:label "Genetic photodermatosis" ; rdfs:subClassOf ordo:Orphanet_68346 , . ordo:Orphanet_262182 a rdfs:Class ; rdfs:label "Partial deletion of the long arm of chromosome 22" ; rdfs:subClassOf ordo:Orphanet_98142 . ordo:Orphanet_180821 a rdfs:Class ; rdfs:label "Rare gastroesophageal tumor"@en ; rdfs:subClassOf ordo:Orphanet_101936 , ordo:Orphanet_98059 . a rdfs:Class ; rdfs:label "parathyroid disease" ; rdfs:comment "a disease that occurs in the parathyroid" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Genetic Counseling" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "E-mail Address" ; rdfs:comment "A text string identifier for a location to which e-mail can be delivered." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "eye degenerative disease" ; rdfs:comment "A neurodegenerative disease that involves the eye." ; rdfs:subClassOf , . ordo:Orphanet_79284 a rdfs:Class ; rdfs:label "Methylmalonic acidemia with homocystinuria type cblF" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_26 , ordo:Orphanet_377796 . ordo:Orphanet_2686 a rdfs:Class ; rdfs:label "Cyclic neutropenia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101987 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "nail disease" ; rdfs:comment "A disease involving the nail." ; rdfs:subClassOf , . ordo:Orphanet_956 a rdfs:Class ; rdfs:label "Acro-pectoro-renal dysplasia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:ObsoleteClass , ordo:Orphanet_294959 , ordo:Orphanet_93547 , . a rdfs:Class ; rdfs:label "chronic pulmonary heart disease" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "lysosomal disease with epilepsy" ; rdfs:subClassOf , ordo:Orphanet_68366 , ordo:Orphanet_71859 . a rdfs:Class ; rdfs:label "dermis disease" ; rdfs:comment "A disease that involves the dermis." ; rdfs:subClassOf . ordo:Orphanet_545 a rdfs:Class ; rdfs:label "Follicular lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98699 a rdfs:Class ; rdfs:label "Syndromic ichthyosis associated with ocular features" ; rdfs:comment "A ichthyosis associated with ocular features that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_98698 , . a rdfs:Class ; rdfs:label "cardiovascular cancer" ; rdfs:comment "A primary or metastatic malignant neoplasm involving the cardiovascular system." ; rdfs:subClassOf , . ordo:Orphanet_89826 a rdfs:Class ; rdfs:label "Rare skin disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_183669 a rdfs:Class ; rdfs:label "Agammaglobulinemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101977 , . ordo:Orphanet_664 a rdfs:Class ; rdfs:label "Ornithine transcarbamylase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_182076 , ordo:Orphanet_377788 , ordo:Orphanet_79167 . ordo:Orphanet_79373 a rdfs:Class ; rdfs:label "Ectodermal dysplasia syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139027 , ordo:Orphanet_183447 , . ordo:Orphanet_68335 a rdfs:Class ; rdfs:label "Chromosomal anomaly" ; rdfs:comment "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)" ; rdfs:subClassOf ordo:Orphanet_93890 , ordo:Orphanet_98053 , , . ordo:Orphanet_99893 a rdfs:Class ; rdfs:label "ACTH-independent Cushing syndrome"@en ; rdfs:subClassOf ordo:Orphanet_399584 , ordo:Orphanet_399849 , ordo:Orphanet_553 . a rdfs:Class ; rdfs:label "rasopathy" ; rdfs:comment "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" ; rdfs:subClassOf , . ordo:Orphanet_325546 a rdfs:Class ; rdfs:label "Sex chromosome disorder of sex development" ; rdfs:comment "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." ; rdfs:subClassOf ordo:Orphanet_325690 , ordo:Orphanet_90771 . a rdfs:Class ; rdfs:label "otorhinolaryngologic disease" ; rdfs:comment "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." ; rdfs:subClassOf . ordo:Orphanet_183619 a rdfs:Class ; rdfs:label "Genetic eye tumor" ; rdfs:subClassOf ordo:Orphanet_68336 , ordo:Orphanet_71859 , . ordo:Orphanet_233655 a rdfs:Class ; rdfs:label "Rare genetic vascular disease" ; rdfs:subClassOf , . ordo:Orphanet_182083 a rdfs:Class ; rdfs:label "Channelopathy with epilepsy" ; rdfs:subClassOf ordo:Orphanet_166472 , . ordo:Orphanet_64743 a rdfs:Class ; rdfs:label "Hepatoportal sclerosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_399839 a rdfs:Class ; rdfs:label "Rare female infertility due to a congenital hypogonadotropic hypogonadism" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_399831 , ordo:Orphanet_400011 . ordo:Orphanet_77292 a rdfs:Class ; rdfs:label "Niemann-Pick disease type A" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_166472 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_98714 , , . ordo:Orphanet_320 a rdfs:Class ; rdfs:label "Apparent mineralocorticoid excess" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156629 , ordo:Orphanet_183637 , ordo:Orphanet_377788 , . ordo:Orphanet_67038 a rdfs:Class ; rdfs:label "B-cell chronic lymphocytic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "encephalomyelitis" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_101351 a rdfs:Class ; rdfs:label "Familial isolated congenital asplenia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_108971 , ordo:Orphanet_179006 , ordo:Orphanet_331193 , ordo:Orphanet_377791 . ordo:Orphanet_138047 a rdfs:Class ; rdfs:label "Pierre Robin syndrome associated with a chromosomal anomaly" ; rdfs:subClassOf ordo:Orphanet_363294 , . ordo:Orphanet_870 a rdfs:Class ; rdfs:label "Down syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377789 . a rdfs:Class ; rdfs:label "factor VII deficiency" ; rdfs:comment "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Cousin" ; rdfs:comment "A child of your aunt or uncle or their descendents." ; rdfs:subClassOf . ordo:Orphanet_137905 a rdfs:Class ; rdfs:label "Syndromic optic nerve hypoplasia" ; rdfs:subClassOf ordo:Orphanet_98671 . ordo:Orphanet_93446 a rdfs:Class ; rdfs:label "Primary bone dysplasia with decreased bone density" ; rdfs:subClassOf ordo:Orphanet_93447 . ordo:Orphanet_89832 a rdfs:Class ; rdfs:label "Syndromic lymphedema" ; rdfs:comment "A lymphedema that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_79383 , . ordo:Orphanet_98669 a rdfs:Class ; rdfs:label "Congenital vitreoretinal dysplasia" ; rdfs:subClassOf ordo:Orphanet_98668 . a rdfs:Class ; rdfs:label "melanoma" ; rdfs:comment "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." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "glomerulonephritis (disease)" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_2260 a rdfs:Class ; rdfs:label "Oligomeganephronia"@en ; rdfs:subClassOf ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "Biological Paternal Grandfather" ; rdfs:comment "A male relative who is the biological father of the biological father." ; rdfs:subClassOf , . ordo:Orphanet_156249 a rdfs:Class ; rdfs:label "Larynx anomaly" ; rdfs:subClassOf ordo:Orphanet_96333 . a rdfs:Class ; rdfs:label "primary immunodeficiency disease" ; rdfs:comment "A disorder in which the immune system is unable to mount an adequate immune response." ; rdfs:subClassOf . ordo:Orphanet_100 a rdfs:Class ; rdfs:label "Ataxia-telangiectasia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101972 , ordo:Orphanet_139027 , ordo:Orphanet_169346 , ordo:Orphanet_183422 , ordo:Orphanet_183478 , ordo:Orphanet_377788 , ordo:Orphanet_95710 , ordo:Orphanet_98097 , ordo:Orphanet_98613 , ordo:Orphanet_98688 , , , , , . ordo:Orphanet_498464 a rdfs:Class ; rdfs:label "Non-syndromic preaxial polydactyly"@en ; rdfs:subClassOf ordo:Orphanet_2913 . ordo:Orphanet_105 a rdfs:Class ; rdfs:label "Atresia of urethra" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_357506 , ordo:Orphanet_377791 , , . a rdfs:Class ; rdfs:label "posterior uveitis" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "cerebral malformation" ; rdfs:subClassOf . ordo:Orphanet_325713 a rdfs:Class ; rdfs:label "Genetic 46,XY disorder of sex development of endocrine origin" ; rdfs:subClassOf ordo:Orphanet_325706 . a rdfs:Class ; rdfs:label "Second Degree Biological Relative" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Parent" ; rdfs:comment "A mother or a father; an immediate progenitor." ; rdfs:subClassOf . ordo:Orphanet_437 a rdfs:Class ; rdfs:label "Hypophosphatemic rickets" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_289098 , ordo:Orphanet_93603 , . ordo:Orphanet_399813 a rdfs:Class ; rdfs:label "Male infertility due to sperm motility disorder" ; rdfs:subClassOf ordo:Orphanet_399771 . ordo:Orphanet_178557 a rdfs:Class ; rdfs:label "Indolent primary cutaneous B-cell lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_178563 , ordo:Orphanet_300842 . ordo:Orphanet_399572 a rdfs:Class ; rdfs:label "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder"@en ; rdfs:subClassOf ordo:Orphanet_98048 . ordo:Orphanet_275837 a rdfs:Class ; rdfs:label "Pulmonary hypertension owing to lung disease and/or hypoxia"@en ; rdfs:subClassOf ordo:Orphanet_71198 . ordo:Orphanet_177901 a rdfs:Class ; rdfs:label "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1" ; rdfs:subClassOf ordo:Orphanet_98793 . ordo:Orphanet_877 a rdfs:Class ; rdfs:label "Neuroendocrine neoplasm"@en ; rdfs:subClassOf ordo:Orphanet_182130 , ordo:Orphanet_97978 . ordo:Orphanet_248111 a rdfs:Class ; rdfs:label "Juvenile Huntington disease" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_399 , ordo:Orphanet_98688 . a rdfs:Class ; rdfs:label "female infertility due to an implantation defect" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "beta-thalassemia HBB/LCRB" ; rdfs:comment "Editor note: consider merging into parent" ; rdfs:subClassOf ordo:Orphanet_848 . ordo:Orphanet_580 a rdfs:Class ; rdfs:label "Mucopolysaccharidosis type 2" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_182076 , ordo:Orphanet_217581 , ordo:Orphanet_377788 , ordo:Orphanet_79388 , ordo:Orphanet_93448 , ordo:Orphanet_98578 , , , . ordo:Orphanet_308467 a rdfs:Class ; rdfs:label "Disorder of galactose metabolism" ; rdfs:subClassOf ordo:Orphanet_79161 . ordo:Orphanet_209033 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of protein O-mannosyltransferase 2" ; rdfs:subClassOf ordo:Orphanet_207113 . ordo:Orphanet_3097 a rdfs:Class ; rdfs:label "Meacham syndrome" ; rdfs:comment "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." ; rdfs:subClassOf ordo:Orphanet_325638 , ordo:Orphanet_377789 , ordo:Orphanet_98087 , . ordo:Orphanet_79276 a rdfs:Class ; rdfs:label "Acute intermittent porphyria" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_100932 , ordo:Orphanet_377788 , ordo:Orphanet_95157 . ordo:Orphanet_798 a rdfs:Class ; rdfs:label "Schinzel-Giedion syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183422 , ordo:Orphanet_330197 , ordo:Orphanet_377789 , ordo:Orphanet_79373 , ordo:Orphanet_93547 , . ordo:Orphanet_500 a rdfs:Class ; rdfs:label "LEOPARD syndrome" ; rdfs:subClassOf ordo:Orphanet_139027 , ordo:Orphanet_183466 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , ordo:Orphanet_98196 , ordo:Orphanet_98587 , ordo:Orphanet_98733 . ordo:Orphanet_101937 a rdfs:Class ; rdfs:label "Rare pancreatic disease"@en ; rdfs:subClassOf ordo:Orphanet_97935 . a rdfs:Class ; rdfs:label "urinary system disease" ; rdfs:comment "A disease involving the renal system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "congenital anomaly of cardiovascular system" ; rdfs:comment "A disease that has its basis in the disruption of cardiovascular system development." ; rdfs:subClassOf , . ordo:Orphanet_206966 a rdfs:Class ; rdfs:label "Mitochondrial myopathy" ; rdfs:comment "Myopathy caused by mitochondrial abnormalities." ; rdfs:subClassOf ordo:Orphanet_206953 , , . ordo:Orphanet_269190 a rdfs:Class ; rdfs:label "Encephaloclastic disorder" ; rdfs:subClassOf ordo:Orphanet_269553 , . ordo:Orphanet_98267 a rdfs:Class ; rdfs:label "Genetic non-syndromic obesity" ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_77828 . ordo:Orphanet_360 a rdfs:Class ; rdfs:label "Glioblastoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "peripheral nervous system neoplasm" ; rdfs:comment "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." ; rdfs:subClassOf , . ordo:Orphanet_331193 a rdfs:Class ; rdfs:label "Other immunodeficiency syndromes due to defects in innate immunity" ; rdfs:comment "Editor note: consider merging" ; rdfs:subClassOf ordo:Orphanet_101988 . ordo:Orphanet_171829 a rdfs:Class ; rdfs:label "6q16 deletion syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_262047 , ordo:Orphanet_377796 , ordo:Orphanet_398073 . ordo:Orphanet_231140 a rdfs:Class ; rdfs:label "Silver-Russell syndrome due to imprinting defect of 11p15" ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_813 . ordo:Orphanet_68346 a rdfs:Class ; rdfs:label "Rare genetic skin disease" ; rdfs:subClassOf ordo:Orphanet_98053 , . ordo:Orphanet_79389 a rdfs:Class ; rdfs:label "Premature aging" ; rdfs:comment "Changes in the organism associated with senescence, occurring at an accelerated rate." ; rdfs:subClassOf ordo:Orphanet_68346 , , . ordo:Orphanet_261796 a rdfs:Class ; rdfs:label "Partial deletion of chromosome 7" ; rdfs:subClassOf ordo:Orphanet_98142 . ordo:Orphanet_248308 a rdfs:Class ; rdfs:label "Rare hemorrhagic disorder"@en ; rdfs:subClassOf ordo:Orphanet_98429 . a rdfs:Class ; rdfs:label "Paediatric Transplantation European Registry" ; rdfs:subClassOf . ordo:Orphanet_93626 a rdfs:Class ; rdfs:label "Rare renal disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . a rdfs:Class ; rdfs:label "Russia" . ordo:Orphanet_98621 a rdfs:Class ; rdfs:label "Rare hyperopia and astigmatism" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183601 , . ordo:Orphanet_217613 a rdfs:Class ; rdfs:label "Mitochondrial disease with dilated cardiomyopathy" ; rdfs:subClassOf ordo:Orphanet_217607 , . ordo:Orphanet_156607 a rdfs:Class ; rdfs:label "Genetic biliary tract disease" ; rdfs:comment "Genetic biliary tract disease." ; rdfs:subClassOf ordo:Orphanet_156601 , , . a rdfs:Class ; rdfs:label "premature birth" ; rdfs:comment "CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." ; rdfs:subClassOf . ordo:Orphanet_98688 a rdfs:Class ; rdfs:label "Oculomotor apraxia or related oculomotor disease" ; rdfs:subClassOf ordo:Orphanet_183616 . a rdfs:Class ; rdfs:label "Male" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_71198 a rdfs:Class ; rdfs:label "Rare pulmonary hypertension"@en ; rdfs:subClassOf ordo:Orphanet_97955 . ordo:Orphanet_2908 a rdfs:Class ; rdfs:label "Kindler syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_306539 , ordo:Orphanet_377788 , ordo:Orphanet_79361 . a rdfs:Class ; rdfs:label "Grandfather" ; rdfs:comment "The father of your father or mother." ; rdfs:subClassOf . ordo:Orphanet_207052 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of sarcoglycan" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_207049 , . ordo:Orphanet_86870 a rdfs:Class ; rdfs:label "CD4+/CD56+ hematodermic neoplasm"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_101959 a rdfs:Class ; rdfs:label "Chronic primary adrenal insufficiency"@en ; rdfs:subClassOf ordo:Orphanet_101958 . ordo:Orphanet_99361 a rdfs:Class ; rdfs:label "Familial medullary thyroid carcinoma" ; rdfs:comment "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_377796 , ordo:Orphanet_653 , , . a rdfs:Class ; rdfs:label "malignant endocrine neoplasm" ; rdfs:comment "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "melanocytic neoplasm" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "mental or behavioural disorder" ; rdfs:comment "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)." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "vesiculobullous skin disease" ; rdfs:comment "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)" ; rdfs:subClassOf . ordo:Orphanet_79259 a rdfs:Class ; rdfs:label "Glycogen storage disease due to glucose-6-phosphatase deficiency type b" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_331184 , ordo:Orphanet_377796 , , . ordo:Orphanet_111 a rdfs:Class ; rdfs:label "Barth syndrome" ; rdfs:comment "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_181437 , ordo:Orphanet_206966 , ordo:Orphanet_217613 , ordo:Orphanet_289902 , ordo:Orphanet_331184 , ordo:Orphanet_352312 , ordo:Orphanet_377788 , ordo:Orphanet_98695 . ordo:Orphanet_226310 a rdfs:Class ; rdfs:label "Peripheral hypothyroidism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_226292 . ordo:Orphanet_183580 a rdfs:Class ; rdfs:label "Genetic malformation syndrome with odontal and/or periodontal component" ; rdfs:subClassOf ordo:Orphanet_183530 , , . ordo:Orphanet_91378 a rdfs:Class ; rdfs:label "Hereditary angioedema" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_658 , ordo:Orphanet_98053 , , . ordo:Orphanet_68378 a rdfs:Class ; rdfs:label "Congenital limb malformation"@en ; rdfs:subClassOf ordo:Orphanet_93890 . ordo:Orphanet_517 a rdfs:Class ; rdfs:label "Acute myelomonocytic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_70589 a rdfs:Class ; rdfs:label "Bronchopulmonary dysplasia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108993 , ordo:Orphanet_183622 , ordo:Orphanet_377789 , . ordo:Orphanet_169826 a rdfs:Class ; rdfs:label "Congenital vitamin K-dependent coagulation factors deficiency" ; rdfs:subClassOf ordo:Orphanet_68334 . ordo:Orphanet_169150 a rdfs:Class ; rdfs:label "Immunodeficiency due to a late component of complements deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , , . ordo:Orphanet_466084 a rdfs:Class ; rdfs:label "Genetic otorhinolaryngologic disease"@en ; rdfs:subClassOf ordo:Orphanet_98053 . ordo:Orphanet_309115 a rdfs:Class ; rdfs:label "Disorder of mitochondrial fatty acid oxidation" ; rdfs:subClassOf ordo:Orphanet_79174 . ordo:Orphanet_98372 a rdfs:Class ; rdfs:label "Hemolytic anemia due to a disorder of glycolytic enzymes" ; rdfs:subClassOf ordo:Orphanet_98374 , , . ordo:Orphanet_51577 a rdfs:Class ; rdfs:label "Cobblestone lissencephaly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_48471 . a rdfs:Class ; rdfs:label "nail anomaly" ; rdfs:comment "A epidermal appendage anomaly that involves the nail." ; rdfs:subClassOf , . ordo:Orphanet_90291 a rdfs:Class ; rdfs:label "Systemic sclerosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_2807 a rdfs:Class ; rdfs:label "Papilloma of choroid plexus"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_2001 a rdfs:Class ; rdfs:label "Cleft lip/palate - intestinal malrotation - cardiopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139039 , ordo:Orphanet_330206 , ordo:Orphanet_377789 . a rdfs:Class ; rdfs:label "retroperitoneal cancer" ; rdfs:comment "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas." ; rdfs:subClassOf , . ordo:Orphanet_79158 a rdfs:Class ; rdfs:label "Cerebral organic aciduria" ; rdfs:comment "A inherited organic acidemia that involves the brain." ; rdfs:subClassOf ordo:Orphanet_289899 , ordo:Orphanet_71859 , . a rdfs:Class ; rdfs:label "Age" ; rdfs:comment "How long something has existed; elapsed time since birth." ; rdfs:subClassOf . ordo:Orphanet_399380 a rdfs:Class ; rdfs:label "Osteonecrosis of genetic origin" ; rdfs:comment "An instance of osteonecrosis that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183524 , . ordo:Orphanet_183660 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101972 . a rdfs:Class ; rdfs:label "vitamin B12 deficiency" ; rdfs:comment "A disease characterized by low serum levels of vitamin B12, either inherited or acquired." ; rdfs:subClassOf , . ordo:Orphanet_98292 a rdfs:Class ; rdfs:label "Mastocytosis"@en ; rdfs:subClassOf ordo:Orphanet_68347 . a rdfs:Class ; rdfs:label "refractive error" ; rdfs:comment "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." ; rdfs:subClassOf . ordo:Orphanet_303 a rdfs:Class ; rdfs:label "Dystrophic epidermolysis bullosa" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_139027 , ordo:Orphanet_79361 . a rdfs:Class ; rdfs:label "Grandson" ; rdfs:comment "A male grandchild." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "visceral heterotaxy" ; rdfs:comment "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." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "infertility" ; rdfs:comment "Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." ; rdfs:subClassOf . ordo:Orphanet_357329 a rdfs:Class ; rdfs:label "Cryptosporidiosis - chronic cholangitis - liver disease" ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_228426 a rdfs:Class ; rdfs:label "Syndromic multisystem autoimmune disease due to Itch deficiency" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_156610 , ordo:Orphanet_169355 , ordo:Orphanet_183763 , ordo:Orphanet_271870 , ordo:Orphanet_363300 , ordo:Orphanet_377788 , , , , , , . ordo:Orphanet_618 a rdfs:Class ; rdfs:label "Familial melanoma" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183487 , ordo:Orphanet_377788 , ordo:Orphanet_98589 , , . ordo:Orphanet_98643 a rdfs:Class ; rdfs:label "Systemic disease with cataract" ; rdfs:subClassOf ordo:Orphanet_271870 , ordo:Orphanet_98641 , . ordo:Orphanet_33110 a rdfs:Class ; rdfs:label "Autosomal agammaglobulinemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_229717 , ordo:Orphanet_377796 . a rdfs:Class ; rdfs:label "Hospital" ; rdfs:comment "An institution that provides medical, surgical, or psychiatric care and treatment for the sick or the injured." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "object aggregate"@en ; rdfs:subClassOf . ordo:Orphanet_C001 a rdfs:Class ; rdfs:label "clinical entity"@en ; rdfs:subClassOf . ordo:Orphanet_169349 a rdfs:Class ; rdfs:label "Immuno-osseous dysplasia" ; rdfs:subClassOf ordo:Orphanet_331217 , . ordo:Orphanet_552 a rdfs:Class ; rdfs:label "MODY" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183625 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "Behavior" ; rdfs:comment "The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "tooth disease" ; rdfs:comment "A disease involving the calcareous tooth." ; rdfs:subClassOf , . ordo:Orphanet_275745 a rdfs:Class ; rdfs:label "Alpha-thalassemia and related diseases" ; rdfs:subClassOf , . ordo:Orphanet_1198 a rdfs:Class ; rdfs:label "Colonic atresia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_108967 , ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "musculoskeletal system disease" ; rdfs:comment "A disease involving the musculoskeletal system. [database_cross_reference: MONDO:DesignPattern]" ; rdfs:subClassOf . ordo:Orphanet_606 a rdfs:Class ; rdfs:label "Proximal myotonic myopathy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_181441 , ordo:Orphanet_206647 , ordo:Orphanet_377788 , ordo:Orphanet_98578 , ordo:Orphanet_98689 , . ordo:Orphanet_65 a rdfs:Class ; rdfs:label "Leber congenital amaurosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98622 , ordo:Orphanet_98623 , ordo:Orphanet_98666 . ordo:Orphanet_158266 a rdfs:Class ; rdfs:label "Huntington disease-like syndrome" ; rdfs:subClassOf ordo:Orphanet_158124 , ordo:Orphanet_89043 , . ordo:Orphanet_68329 a rdfs:Class ; rdfs:label "Rare maxillo-facial surgical disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . a rdfs:Class ; rdfs:label "Estonia" . ordo:Orphanet_73274 a rdfs:Class ; rdfs:label "Acquired hemophilia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_881 a rdfs:Class ; rdfs:label "Turner syndrome" ; rdfs:comment "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." ; rdfs:seeAlso , , ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_165707 , ordo:Orphanet_263717 , ordo:Orphanet_325546 , ordo:Orphanet_325638 , ordo:Orphanet_377789 , ordo:Orphanet_399877 , ordo:Orphanet_93547 , ordo:Orphanet_95710 , ordo:Orphanet_98574 , , , , . ordo:Orphanet_70592 a rdfs:Class ; rdfs:label "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" ; rdfs:comment "Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." ; rdfs:subClassOf ordo:Orphanet_183710 , ordo:Orphanet_377788 . ordo:Orphanet_79204 a rdfs:Class ; rdfs:label "Lipid storage disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_309005 , ordo:Orphanet_68366 . ordo:Orphanet_206647 a rdfs:Class ; rdfs:label "Myotonic dystrophy" ; rdfs:comment "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies." ; rdfs:subClassOf ordo:Orphanet_206644 , ordo:Orphanet_206970 . ordo:Orphanet_90 a rdfs:Class ; rdfs:label "Argininemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79167 . a rdfs:Class ; rdfs:label "Occupation or Discipline" ; rdfs:comment "A grouping of occupations and fields of study." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Partner" ; rdfs:comment "A person that is associated with another person in some manner or action." ; rdfs:subClassOf . ordo:Orphanet_98260 a rdfs:Class ; rdfs:label "Adolescent-onset epilepsy syndrome" ; rdfs:subClassOf ordo:Orphanet_166463 . a rdfs:Class ; rdfs:label "other syndrome with a central nervous system malformation as major feature" ; rdfs:comment "Editor note: consider deleting all 'other' terms" ; rdfs:subClassOf ordo:Orphanet_269564 . ordo:Orphanet_461 a rdfs:Class ; rdfs:label "Recessive X-linked ichthyosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_181437 , ordo:Orphanet_281082 , ordo:Orphanet_281210 , ordo:Orphanet_377788 , ordo:Orphanet_79226 , ordo:Orphanet_98628 , ordo:Orphanet_98699 , ordo:Orphanet_98711 , , . ordo:Orphanet_277 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to adenosine deaminase deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_317419 , ordo:Orphanet_377788 , ordo:Orphanet_79191 . a rdfs:Class ; rdfs:label "thrombotic disorder due to a coagulation factors defect" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_679 a rdfs:Class ; rdfs:label "Malignant atrophic papulosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183444 , ordo:Orphanet_271870 , ordo:Orphanet_377788 , , , . a rdfs:Class ; rdfs:label "ocular vascular disease" ; rdfs:comment "a disease that occurs in the vasculature of the eye" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "benign neoplasm of skin" ; rdfs:comment "A benign neoplasm that involves the zone of skin." ; rdfs:subClassOf , . ordo:Orphanet_1991 a rdfs:Class ; rdfs:label "Cleft lip with or without cleft palate"@en ; rdfs:subClassOf ordo:Orphanet_155832 , ordo:Orphanet_68329 . a rdfs:Class ; rdfs:label "acidosis" ; rdfs:comment "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "urinary tract obstruction" ; rdfs:comment "Blockage of the normal flow of contents of the urinary tract." ; rdfs:subClassOf . ordo:Orphanet_183542 a rdfs:Class ; rdfs:label "Genetic cranial malformation" ; rdfs:subClassOf ordo:Orphanet_183530 . ordo:Orphanet_1934 a rdfs:Class ; rdfs:label "Early infantile epileptic encephalopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_182079 , ordo:Orphanet_182083 , ordo:Orphanet_377792 , ordo:Orphanet_98257 , , . ordo:Orphanet_79357 a rdfs:Class ; rdfs:label "Hereditary palmoplantar keratoderma" ; rdfs:comment "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183426 , ordo:Orphanet_79353 , , , . ordo:Orphanet_892 a rdfs:Class ; rdfs:label "Von Hippel-Lindau disease" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_100094 , ordo:Orphanet_108987 , ordo:Orphanet_183503 , ordo:Orphanet_183619 , ordo:Orphanet_319328 , ordo:Orphanet_377788 , ordo:Orphanet_93587 , ordo:Orphanet_98196 , ordo:Orphanet_98638 , , , , , . a rdfs:Class ; rdfs:label "Western Europe" . ordo:Orphanet_95157 a rdfs:Class ; rdfs:label "Acute hepatic porphyria" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_207018 , ordo:Orphanet_738 , , . a rdfs:Class ; rdfs:label "tumour of cranial and spinal nerves" ; rdfs:comment "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." ; rdfs:subClassOf , . ordo:Orphanet_223 a rdfs:Class ; rdfs:label "Nephrogenic diabetes insipidus" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , , , . ordo:Orphanet_68361 a rdfs:Class ; rdfs:label "Rare deafness"@en ; rdfs:subClassOf ordo:Orphanet_466084 , ordo:Orphanet_98036 . a rdfs:Class ; rdfs:label "Data" ; rdfs:seeAlso , , , , , ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Czechia" . a rdfs:Class ; rdfs:label "type I diabetes mellitus" ; rdfs:comment "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." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "Information Resources Management" ; rdfs:comment "Cataloging, grouping, and flagging data for ready retrieval." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Acronym" ; rdfs:comment "The non-unique initials or abbreviated name used for identification." ; rdfs:subClassOf . ordo:Orphanet_140969 a rdfs:Class ; rdfs:label "Saldino-Mainzer syndrome" ; rdfs:comment "Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia." ; rdfs:subClassOf ordo:Orphanet_93436 , ordo:Orphanet_93547 , ordo:Orphanet_93587 , ordo:Orphanet_98661 . a rdfs:Class ; rdfs:label "phagocyte bactericidal dysfunction" ; rdfs:comment "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas." ; rdfs:subClassOf , , . ordo:Orphanet_275786 a rdfs:Class ; rdfs:label "Drug- or toxin-induced pulmonary arterial hypertension"@en ; rdfs:subClassOf ordo:Orphanet_182090 . ordo:Orphanet_181384 a rdfs:Class ; rdfs:label "Rare hypothalamic or pituitary disease"@en ; rdfs:subClassOf ordo:Orphanet_97978 . ordo:Orphanet_263676 a rdfs:Class ; rdfs:label "Hereditary epidermolysis bullosa associated with ocular features" ; rdfs:subClassOf ordo:Orphanet_98696 . ordo:Orphanet_634 a rdfs:Class ; rdfs:label "Netherton syndrome" ; rdfs:comment "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_281097 , ordo:Orphanet_281222 , ordo:Orphanet_331223 , ordo:Orphanet_377788 , ordo:Orphanet_98599 , ordo:Orphanet_98699 . ordo:Orphanet_319340 a rdfs:Class ; rdfs:label "Carney complex-trismus-pseudocamptodactyly syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_1359 , ordo:Orphanet_228184 , . a rdfs:Class ; rdfs:label "International Network on Neurotransmitter related Disorders Registry" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "female infertility due to hypothalamic-pituitary-gonadal axis disorder" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_101049 a rdfs:Class ; rdfs:label "Familial hypocalciuric hypercalcemia type 2" ; rdfs:comment "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13." ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_405 . ordo:Orphanet_280142 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to LCK deficiency" ; rdfs:subClassOf ordo:Orphanet_317419 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Occupational Therapist" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Romania" . ordo:Orphanet_97929 a rdfs:Class ; rdfs:label "Rare cardiac disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_31828 a rdfs:Class ; rdfs:label "Digitalis poisoning"@en ; rdfs:subClassOf ordo:Orphanet_377793 . ordo:Orphanet_101972 a rdfs:Class ; rdfs:label "Combined T and B cell immunodeficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_179006 , . ordo:Orphanet_801 a rdfs:Class ; rdfs:label "Scleroderma"@en ; rdfs:subClassOf ordo:Orphanet_290836 . a rdfs:Class ; rdfs:label "anomaly of puberty or/and menstrual cycle" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "palpebral epidermal tumor" ; rdfs:comment "A neoplasm (disease) that involves the skin of eyelid." ; rdfs:subClassOf . ordo:Orphanet_68415 a rdfs:Class ; rdfs:label "Rare parathyroid disease and phosphocalcic metabolism anomaly"@en ; rdfs:subClassOf ordo:Orphanet_97978 . ordo:Orphanet_98039 a rdfs:Class ; rdfs:label "Digestive tract malformation"@en ; rdfs:subClassOf ordo:Orphanet_165711 , ordo:Orphanet_93890 . ordo:Orphanet_156601 a rdfs:Class ; rdfs:label "Rare genetic hepatic disease" ; rdfs:subClassOf ordo:Orphanet_98053 , , . ordo:Orphanet_371436 a rdfs:Class ; rdfs:label "Genetic neurovascular malformation" ; rdfs:subClassOf ordo:Orphanet_183503 , ordo:Orphanet_211240 . a rdfs:Class ; rdfs:label "rickets" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_182050 a rdfs:Class ; rdfs:label "MYH9-related disease" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102373 , ordo:Orphanet_220452 , ordo:Orphanet_377788 , . ordo:Orphanet_2162 a rdfs:Class ; rdfs:label "Holoprosencephaly" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_166478 , ordo:Orphanet_183763 , ordo:Orphanet_268926 , ordo:Orphanet_377789 , ordo:Orphanet_95495 , . ordo:Orphanet_255 a rdfs:Class ; rdfs:label "Dopa-responsive dystonia" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_309819 , ordo:Orphanet_391711 . a rdfs:Class ; rdfs:label "head disease" ; rdfs:comment "A disease involving the head." ; rdfs:subClassOf . ordo:Orphanet_69663 a rdfs:Class ; rdfs:label "Low phospholipid associated cholelithiasis" ; rdfs:comment "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years." ; rdfs:subClassOf ordo:Orphanet_156607 , ordo:Orphanet_377788 , , . ordo:Orphanet_216 a rdfs:Class ; rdfs:label "Neuronal ceroid lipofuscinosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_182070 , ordo:Orphanet_183500 , ordo:Orphanet_225681 , ordo:Orphanet_68385 , ordo:Orphanet_79204 , ordo:Orphanet_98543 , ordo:Orphanet_98666 , ordo:Orphanet_98713 , , . ordo:Orphanet_309 a rdfs:Class ; rdfs:label "Familial partial epilepsy" ; rdfs:comment "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_166475 , ordo:Orphanet_182083 , ordo:Orphanet_98259 , ordo:Orphanet_98260 , . ordo:Orphanet_541 a rdfs:Class ; rdfs:label "Primary cutaneous CD30+ T-cell lymphoproliferative disease"@en ; rdfs:subClassOf ordo:Orphanet_178548 . a rdfs:Class ; rdfs:label "Follow-Up Care" ; rdfs:comment "Any clinical attention received following a diagnosis or treatment, with the specific purpose of monitoring that specific diagnosis or treatment." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Denmark" . ordo:Orphanet_98605 a rdfs:Class ; rdfs:label "Excretory apparatus of the lacrimal system anomaly" ; rdfs:subClassOf ordo:Orphanet_98602 . ordo:Orphanet_104011 a rdfs:Class ; rdfs:label "Rare tumor of intestine"@en ; rdfs:subClassOf ordo:Orphanet_117569 , ordo:Orphanet_98059 . a rdfs:Class ; rdfs:label "eye adnexa disease" ; rdfs:comment "A disease involving the ocular adnexa." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "ATC code" ; rdfs:subClassOf , . ordo:Orphanet_16 a rdfs:Class ; rdfs:label "Blue cone monochromatism" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_49382 , , . ordo:Orphanet_90790 a rdfs:Class ; rdfs:label "Congenital lipoid adrenal hyperplasia due to STAR deficency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_400018 , ordo:Orphanet_418 , ordo:Orphanet_90786 , ordo:Orphanet_95710 . a rdfs:Class ; rdfs:label "inherited thyroid metabolism disease" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process." ; rdfs:subClassOf , ordo:Orphanet_68367 . ordo:Orphanet_51208 a rdfs:Class ; rdfs:label "Formiminoglutamic aciduria" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_285657 , ordo:Orphanet_377788 , ordo:Orphanet_98408 . ordo:Orphanet_180208 a rdfs:Class ; rdfs:label "Anomaly of puberty or/and menstrual cycle"@en ; rdfs:subClassOf ordo:Orphanet_96344 . a rdfs:Class ; rdfs:label "Belgium" . a rdfs:Class ; rdfs:label "Niece" ; rdfs:comment "A daughter of your brother or sister." ; rdfs:subClassOf . ordo:Orphanet_100091 a rdfs:Class ; rdfs:label "Adrenal/paraganglial tumor"@en ; rdfs:subClassOf ordo:Orphanet_101954 , ordo:Orphanet_182130 . ordo:Orphanet_668 a rdfs:Class ; rdfs:label "Osteosarcoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_1309 a rdfs:Class ; rdfs:label "Medullary sponge kidney" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_357506 , ordo:Orphanet_377791 , ordo:Orphanet_93587 . a rdfs:Class ; rdfs:label "Malignant Mixed Neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "low grade glioma" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_367 a rdfs:Class ; rdfs:label "Glycogen storage disease due to glycogen branching enzyme deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_206959 , ordo:Orphanet_217607 , ordo:Orphanet_377788 , ordo:Orphanet_79201 . ordo:Orphanet_405 a rdfs:Class ; rdfs:label "Familial hypocalciuric hypercalcemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183634 , ordo:Orphanet_377788 , ordo:Orphanet_93447 , , , . ordo:Orphanet_394 a rdfs:Class ; rdfs:label "Classical homocystinuria" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_139009 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , ordo:Orphanet_98638 , ordo:Orphanet_98653 , ordo:Orphanet_98712 , , , . ordo:Orphanet_314662 a rdfs:Class ; rdfs:label "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia" ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_93460 . a rdfs:Class ; rdfs:label "other rare diabetes mellitus" ; rdfs:comment "Editor note: consider merging" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Heart neoplasm" ; rdfs:comment "A neoplasm (disease) that involves the heart." ; rdfs:subClassOf , , . ordo:Orphanet_754 a rdfs:Class ; rdfs:label "Androgen insensitivity syndrome" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_325351 , ordo:Orphanet_325632 , ordo:Orphanet_325713 , ordo:Orphanet_399685 , , . a rdfs:Class ; rdfs:label "anterior horn disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_98036 a rdfs:Class ; rdfs:label "Rare otorhinolaryngologic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_1930 a rdfs:Class ; rdfs:label "Herpetic encephalitis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183710 , ordo:Orphanet_377788 , ordo:Orphanet_71859 , , . ordo:Orphanet_181399 a rdfs:Class ; rdfs:label "Rare hyperthyroidism" ; rdfs:subClassOf ordo:Orphanet_183631 , . a rdfs:Class ; rdfs:label "Conceptual Entity" ; rdfs:comment "An organizational header for concepts representing mostly abstract entities." ; rdfs:subClassOf . ordo:Orphanet_231127 a rdfs:Class ; rdfs:label "Beckwith-Wiedemann syndrome due to 11p15 microdeletion" ; rdfs:subClassOf ordo:Orphanet_116 , ordo:Orphanet_261947 , ordo:Orphanet_377795 , . a rdfs:Class ; rdfs:label "cartilage disease" ; rdfs:comment "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." ; rdfs:subClassOf , . ordo:Orphanet_209978 a rdfs:Class ; rdfs:label "Alternating hemiplegia" ; rdfs:subClassOf ordo:Orphanet_71859 , . ordo:Orphanet_271847 a rdfs:Class ; rdfs:label "Genetic endocrine tumor" ; rdfs:subClassOf ordo:Orphanet_68336 , . a rdfs:Class ; rdfs:label "hypochromic microcytic anemia (disease)" ; rdfs:comment "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "inherited auditory system disease" ; rdfs:comment "An instance of auditory system disease that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf , ordo:Orphanet_71859 . a rdfs:Class ; rdfs:label "Maiden Name" ; rdfs:comment "A woman's surname before marriage." ; rdfs:subClassOf . ordo:Orphanet_3471 a rdfs:Class ; rdfs:label "Young syndrome" ; rdfs:comment "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156610 , ordo:Orphanet_377788 , ordo:Orphanet_400003 , , . ordo:Orphanet_873 a rdfs:Class ; rdfs:label "Desmoid tumor"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_377792 a rdfs:Class ; rdfs:label "clinical syndrome"@en ; rdfs:subClassOf ordo:Orphanet_C001 . ordo:Orphanet_264735 a rdfs:Class ; rdfs:label "Interstitial lung disease specific to adulthood"@en ; rdfs:subClassOf ordo:Orphanet_182095 . ordo:Orphanet_2065 a rdfs:Class ; rdfs:label "Galloway-Mowat syndrome" ; rdfs:comment "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." ; rdfs:subClassOf ordo:Orphanet_102373 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , , , . ordo:Orphanet_98155 a rdfs:Class ; rdfs:label "Gonosome anomaly" ; rdfs:subClassOf ordo:Orphanet_68335 . ordo:Orphanet_376724 a rdfs:Class ; rdfs:label "Generalized isolated dystonia" ; rdfs:comment "Editor note: consider merging with generalized dystonia if no complex forms" ; rdfs:subClassOf ordo:Orphanet_156159 , . ordo:Orphanet_317425 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to DNA-PKcs deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_317419 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "abnormality of vitamin metabolism" ; rdfs:subClassOf . ordo:Orphanet_208508 a rdfs:Class ; rdfs:label "Autosomal dominant cerebellar ataxia type 2" ; rdfs:subClassOf ordo:Orphanet_99 . ordo:Orphanet_325706 a rdfs:Class ; rdfs:label "Genetic 46,XY disorder of sex development" ; rdfs:comment "Differences of sex development in individuals with 46,XY karyotype." ; rdfs:subClassOf ordo:Orphanet_325690 . ordo:Orphanet_262047 a rdfs:Class ; rdfs:label "Partial deletion of the long arm of chromosome 6" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_261791 . ordo:Orphanet_217610 a rdfs:Class ; rdfs:label "Neuromuscular disease with dilated cardiomyopathy" ; rdfs:subClassOf ordo:Orphanet_217607 , ordo:Orphanet_98497 , . ordo:Orphanet_93665 a rdfs:Class ; rdfs:label "Autoinflammatory syndrome"@en ; rdfs:subClassOf ordo:Orphanet_182231 . ordo:Orphanet_281222 a rdfs:Class ; rdfs:label "Autosomal ichthyosis syndrome with prominent hair abnormalities" ; rdfs:subClassOf ordo:Orphanet_281217 . a rdfs:Class ; rdfs:label "Slovenia" . a rdfs:Class ; rdfs:label "progressive external ophthalmoplegia" ; rdfs:comment "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)" ; rdfs:subClassOf , ordo:Orphanet_206966 . a rdfs:Class ; rdfs:label "rare lymphatic system malformation" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_98632 a rdfs:Class ; rdfs:label "Glaucoma associated with neural crest cell migration anomaly" ; rdfs:subClassOf ordo:Orphanet_98631 , . ordo:Orphanet_34592 a rdfs:Class ; rdfs:label "Immunodeficiency by defective expression of HLA class 1" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_254871 a rdfs:Class ; rdfs:label "Mitochondrial DNA depletion syndrome, hepatocerebral form" ; rdfs:comment "Editor note: consider merging with MONDO:0014943" ; rdfs:subClassOf ordo:Orphanet_35698 . a rdfs:Class ; rdfs:label "Molecule identifier" ; rdfs:subClassOf . ordo:Orphanet_631 a rdfs:Class ; rdfs:label "Non-acquired isolated growth hormone deficiency" ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_95488 . a rdfs:Class ; rdfs:label "Herpesviridae infectious disease" ; rdfs:comment "Virus diseases caused by the herpesviridae." ; rdfs:subClassOf . ordo:Orphanet_808 a rdfs:Class ; rdfs:label "Seckel syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_324761 , ordo:Orphanet_377789 , . ordo:Orphanet_2440 a rdfs:Class ; rdfs:label "Split hand-split foot malformation" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_294935 , ordo:Orphanet_377789 . ordo:Orphanet_294959 a rdfs:Class ; rdfs:label "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" ; rdfs:subClassOf ordo:Orphanet_404571 , ordo:Orphanet_404577 . ordo:Orphanet_927 a rdfs:Class ; rdfs:label "Hyperammonemia due to N-acetylglutamate synthetase deficiency" ; rdfs:comment "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79167 . a rdfs:Class ; rdfs:label "systemic diseases with anterior uveitis" ; rdfs:subClassOf . ordo:Orphanet_2614 a rdfs:Class ; rdfs:label "Nail-patella syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102373 , ordo:Orphanet_377789 , ordo:Orphanet_79370 , ordo:Orphanet_93455 , ordo:Orphanet_98704 , . a rdfs:Class ; rdfs:label "Malta" . ordo:Orphanet_457359 a rdfs:Class ; rdfs:label "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377789 . a rdfs:Class ; rdfs:label "disorder of development or morphogenesis" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_2574 a rdfs:Class ; rdfs:label "Moynahan syndrome" ; rdfs:subClassOf ordo:Orphanet_166463 , ordo:Orphanet_183466 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , . ordo:Orphanet_404584 a rdfs:Class ; rdfs:label "Rare genetic bone development disorder" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183530 , , . ordo:Orphanet_68334 a rdfs:Class ; rdfs:label "Rare hemorrhagic disorder due to a constitutional coagulation factors defect" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183654 , ordo:Orphanet_248315 , , . ordo:Orphanet_94148 a rdfs:Class ; rdfs:label "Autosomal dominant cerebellar ataxia type 3" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_99 . ordo:Orphanet_248315 a rdfs:Class ; rdfs:label "Rare hemorrhagic disorder due to a coagulation factors defect"@en ; rdfs:subClassOf ordo:Orphanet_248308 . ordo:Orphanet_31043 a rdfs:Class ; rdfs:label "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_306516 , ordo:Orphanet_377788 . ordo:Orphanet_209038 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of myofibrillar proteins" ; rdfs:subClassOf ordo:Orphanet_207049 . ordo:Orphanet_88673 a rdfs:Class ; rdfs:label "Hepatocellular carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_424936 . ordo:Orphanet_364568 a rdfs:Class ; rdfs:label "Dysostosis with limb anomaly as a major feature"@en ; rdfs:subClassOf ordo:Orphanet_364559 . ordo:Orphanet_448 a rdfs:Class ; rdfs:label "Hemophilia" ; rdfs:comment "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency." ; rdfs:subClassOf ordo:Orphanet_68334 . ordo:Orphanet_206973 a rdfs:Class ; rdfs:label "Congenital myotonia" ; rdfs:subClassOf ordo:Orphanet_206970 . ordo:Orphanet_156212 a rdfs:Class ; rdfs:label "Hypoglossia/aglossia" ; rdfs:subClassOf ordo:Orphanet_183583 , , . a rdfs:Class ; rdfs:label "Huntington disease and related disorders" ; rdfs:comment "A grouping for Huntington disease and similar diseases." ; rdfs:subClassOf ordo:Orphanet_183500 . ordo:Orphanet_223727 a rdfs:Class ; rdfs:label "Bone sarcoma"@en ; rdfs:subClassOf ordo:Orphanet_68411 . ordo:Orphanet_432 a rdfs:Class ; rdfs:label "Normosmic congenital hypogonadotropic hypogonadism" ; rdfs:subClassOf ordo:Orphanet_238666 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "ichthyosis (disease)" ; rdfs:comment "A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "age at diagnosis" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_100051 a rdfs:Class ; rdfs:label "Hereditary angioedema type 2" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377795 , . ordo:Orphanet_183539 a rdfs:Class ; rdfs:label "Genetic renal or urinary tract malformation" ; rdfs:comment "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." ; rdfs:subClassOf ordo:Orphanet_183530 , ordo:Orphanet_98056 , , . a rdfs:Class ; rdfs:label "steroid inherited metabolic disorder" ; rdfs:comment "A lipid metabolism disorder that involves defects in steroid metabolism." ; rdfs:subClassOf ordo:Orphanet_309005 . ordo:Orphanet_138 a rdfs:Class ; rdfs:label "CHARGE syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_156237 , ordo:Orphanet_156532 , ordo:Orphanet_165707 , ordo:Orphanet_181387 , ordo:Orphanet_330197 , ordo:Orphanet_331220 , ordo:Orphanet_377789 , ordo:Orphanet_399846 , ordo:Orphanet_90642 , ordo:Orphanet_93547 , ordo:Orphanet_98655 , , . ordo:Orphanet_68364 a rdfs:Class ; rdfs:label "Hemoglobinopathy" ; rdfs:subClassOf ordo:Orphanet_108997 , ordo:Orphanet_183651 , . ordo:Orphanet_2248 a rdfs:Class ; rdfs:label "Hypoplastic left heart syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "phagocytic cell dysfunction" ; rdfs:subClassOf . ordo:Orphanet_79226 a rdfs:Class ; rdfs:label "Sterol metabolism disorder" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process." ; rdfs:subClassOf ordo:Orphanet_309005 , . a rdfs:Class ; rdfs:label "thyroid neoplasm" ; rdfs:comment "A benign or malignant neoplasm affecting the thyroid gland." ; rdfs:subClassOf , . ordo:Orphanet_247353 a rdfs:Class ; rdfs:label "Generalized pustular psoriasis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79360 , , . a rdfs:Class ; rdfs:label "amino acid metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of cellular amino acid metabolic process." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "familial juvenile hyperuricemic nephropathy" ; rdfs:subClassOf . ordo:Orphanet_86788 a rdfs:Class ; rdfs:label "X-linked severe congenital neutropenia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_42738 , . ordo:Orphanet_86854 a rdfs:Class ; rdfs:label "Splenic marginal zone lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_538 a rdfs:Class ; rdfs:label "Lymphangioleiomyomatosis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156610 , ordo:Orphanet_377788 , , . ordo:Orphanet_397787 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to IKK2 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_397802 . ordo:Orphanet_117573 a rdfs:Class ; rdfs:label "Syndromic anorectal malformation" ; rdfs:comment "A anorectal malformation that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_96346 , . a rdfs:Class ; rdfs:label "pseudoxanthoma elasticum (inherited or acquired)" ; rdfs:subClassOf . ordo:Orphanet_43 a rdfs:Class ; rdfs:label "X-linked adrenoleukodystrophy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101960 , ordo:Orphanet_166472 , ordo:Orphanet_181441 , ordo:Orphanet_183500 , ordo:Orphanet_377788 , ordo:Orphanet_68356 , ordo:Orphanet_68385 , ordo:Orphanet_79188 , ordo:Orphanet_98543 , , . ordo:Orphanet_68419 a rdfs:Class ; rdfs:label "Vascular anomaly or angioma"@en ; rdfs:subClassOf ordo:Orphanet_93890 , ordo:Orphanet_98028 . ordo:Orphanet_309469 a rdfs:Class ; rdfs:label "Disorder of O-mannosylglycan synthesis" ; rdfs:subClassOf ordo:Orphanet_309447 . a rdfs:Class ; rdfs:label "information entity" ; rdfs:comment "An information entity is an entity that represents information about some other entity. For example, a measurement, a clustered data set." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "inherited fatty acid metabolism disorder" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_289899 , ordo:Orphanet_309005 . a rdfs:Class ; rdfs:label "central nervous system infection" ; rdfs:comment "Pathogenic infections of the brain, spinal cord, and meninges." ; rdfs:subClassOf , . ordo:Orphanet_206644 a rdfs:Class ; rdfs:label "Progressive muscular dystrophy" ; rdfs:subClassOf ordo:Orphanet_98473 . ordo:Orphanet_90695 a rdfs:Class ; rdfs:label "Panhypopituitarism" ; rdfs:comment "Insufficient production of all the anterior pituitary hormones." ; rdfs:subClassOf ordo:Orphanet_95494 . ordo:Orphanet_1329 a rdfs:Class ; rdfs:label "Complete atrioventricular canal"@en ; rdfs:subClassOf ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "Unit of Measure" ; rdfs:comment "A named quantity in terms of which other quantities are measured or specified, used as a standard measurement of like kinds." ; rdfs:subClassOf . ordo:Orphanet_98028 a rdfs:Class ; rdfs:label "Rare circulatory system disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_3032 a rdfs:Class ; rdfs:label "NPHP3-related Meckel-like syndrome" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_269570 , ordo:Orphanet_564 . a rdfs:Class ; rdfs:label "pseudohypoaldosteronism" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_411634 a rdfs:Class ; rdfs:label "Juvenile nephropathic cystinosis"@en ; rdfs:subClassOf ordo:Orphanet_377796 . ordo:Orphanet_263720 a rdfs:Class ; rdfs:label "X chromosome number anomaly with male phenotype" ; rdfs:subClassOf ordo:Orphanet_263714 . a rdfs:Class ; rdfs:label "neoplasm of thorax" ; rdfs:comment "A neoplasm (disease) that involves the thoracic segment of trunk." ; rdfs:subClassOf , . ordo:Orphanet_69088 a rdfs:Class ; rdfs:label "Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema" ; rdfs:comment "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." ; rdfs:subClassOf ordo:Orphanet_2781 , ordo:Orphanet_331193 , ordo:Orphanet_377788 , ordo:Orphanet_79373 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , , . ordo:Orphanet_207085 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of dystrophin" ; rdfs:subClassOf ordo:Orphanet_207049 . ordo:Orphanet_99892 a rdfs:Class ; rdfs:label "ACTH-dependent Cushing syndrome"@en ; rdfs:subClassOf ordo:Orphanet_399584 , ordo:Orphanet_399849 , ordo:Orphanet_553 . ordo:Orphanet_98638 a rdfs:Class ; rdfs:label "Rare disease with glaucoma as a major feature" ; rdfs:seeAlso , ; rdfs:subClassOf ordo:Orphanet_519331 , ordo:Orphanet_522580 . ordo:Orphanet_325632 a rdfs:Class ; rdfs:label "46,XY disorder of sex development of gynecological interest" ; rdfs:subClassOf ordo:Orphanet_325620 , ordo:Orphanet_325665 . ordo:Orphanet_93440 a rdfs:Class ; rdfs:label "Slender bone dysplasia" ; rdfs:subClassOf ordo:Orphanet_364526 . ordo:Orphanet_93593 a rdfs:Class ; rdfs:label "Nephropathy secondary to a storage or other metabolic disease" ; rdfs:subClassOf ordo:Orphanet_93626 , ordo:Orphanet_98056 , . a rdfs:Class ; rdfs:label "Compound identifier" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "X-linked hypophosphatemic rickets (recessive or dominant)" ; rdfs:subClassOf , , ordo:Orphanet_437 . a rdfs:Class ; rdfs:label "male infertility" ; rdfs:comment "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility." ; rdfs:subClassOf , . ordo:Orphanet_98482 a rdfs:Class ; rdfs:label "Idiopathic inflammatory myopathy"@en ; rdfs:subClassOf ordo:Orphanet_182228 , ordo:Orphanet_206638 . a rdfs:Class ; rdfs:label "intrahepatic cholestasis" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_79171 a rdfs:Class ; rdfs:label "Disorder of cobalamin metabolism and transport" ; rdfs:subClassOf ordo:Orphanet_309827 , . ordo:Orphanet_183484 a rdfs:Class ; rdfs:label "Genetic subcutaneous tissue disorder" ; rdfs:subClassOf ordo:Orphanet_68346 . ordo:Orphanet_217616 a rdfs:Class ; rdfs:label "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy" ; rdfs:subClassOf ordo:Orphanet_217607 , . ordo:Orphanet_69077 a rdfs:Class ; rdfs:label "Rhabdoid tumor"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_498457 a rdfs:Class ; rdfs:label "Longitudinal limb defect"@en ; rdfs:subClassOf ordo:Orphanet_93457 . a rdfs:Class ; rdfs:label "rare disease with odontological manifestation" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_2966 a rdfs:Class ; rdfs:label "Properdin deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "Belarus" . ordo:Orphanet_309130 a rdfs:Class ; rdfs:label "Disorder of carnitine cycle and carnitine transport" ; rdfs:subClassOf ordo:Orphanet_79174 . ordo:Orphanet_91144 a rdfs:Class ; rdfs:label "46,XX disorder of sex development induced by maternal-derived androgen"@en ; rdfs:subClassOf ordo:Orphanet_98078 . ordo:Orphanet_248326 a rdfs:Class ; rdfs:label "Rare hemorrhagic disorder due to a platelet anomaly"@en ; rdfs:subClassOf ordo:Orphanet_248308 . ordo:Orphanet_306636 a rdfs:Class ; rdfs:label "Rare tumor of liver and intrahepatic biliary tract"@en ; rdfs:subClassOf ordo:Orphanet_101943 . a rdfs:Class ; rdfs:label "genetic skin disease" ; rdfs:comment "An instance of skin disease that is caused by a modification of the individual's genome." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Country" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "syndromic hereditary optic neuropathy" ; rdfs:comment "A hereditary optic neuropathy that is part of a larger syndrome." ; rdfs:subClassOf , ordo:Orphanet_98671 . ordo:Orphanet_95161 a rdfs:Class ; rdfs:label "Chronic hepatic porphyria" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_95157 . ordo:Orphanet_101998 a rdfs:Class ; rdfs:label "Rare epilepsy"@en ; rdfs:subClassOf ordo:Orphanet_98006 . a rdfs:Class ; rdfs:label "emphysema" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_1201 a rdfs:Class ; rdfs:label "Atresia of small intestine" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_108967 , ordo:Orphanet_365563 , ordo:Orphanet_377791 . ordo:Orphanet_98677 a rdfs:Class ; rdfs:label "Autosomal recessive syndromic optic atrophy" ; rdfs:subClassOf ordo:Orphanet_98675 . a rdfs:Class ; rdfs:label "vitamin B deficiency" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_399764 a rdfs:Class ; rdfs:label "Male infertility due to gonadal dysgenesis or sperm disorder" ; rdfs:subClassOf ordo:Orphanet_399980 , . a rdfs:Class ; rdfs:label "Iceland" . a rdfs:Class ; rdfs:label "Malignant Urinary System Neoplasm" ; rdfs:comment "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." ; rdfs:subClassOf , . ordo:Orphanet_264984 a rdfs:Class ; rdfs:label "Exposure-related interstitial lung disease"@en ; rdfs:subClassOf ordo:Orphanet_264944 . a rdfs:Class ; rdfs:label "cell proliferation disorder" ; rdfs:comment "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions." ; rdfs:subClassOf . ordo:Orphanet_93321 a rdfs:Class ; rdfs:label "Radial hemimelia" ; rdfs:comment "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." ; rdfs:subClassOf ordo:Orphanet_2130 , ordo:Orphanet_377791 . ordo:Orphanet_404568 a rdfs:Class ; rdfs:label "Dysostosis of genetic origin" ; rdfs:comment "An instance of dysostosis that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183524 , ordo:Orphanet_404584 , . ordo:Orphanet_137605 a rdfs:Class ; rdfs:label "Legius syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183466 , ordo:Orphanet_377789 , ordo:Orphanet_98196 , ordo:Orphanet_98733 . ordo:Orphanet_116 a rdfs:Class ; rdfs:label "Beckwith-Wiedemann syndrome" ; rdfs:comment "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156207 , ordo:Orphanet_156237 , ordo:Orphanet_183422 , ordo:Orphanet_183595 , ordo:Orphanet_217595 , ordo:Orphanet_319328 , ordo:Orphanet_377789 , ordo:Orphanet_93460 , ordo:Orphanet_93547 , . ordo:Orphanet_207015 a rdfs:Class ; rdfs:label "Rare hereditary disease with peripheral neuropathy" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_98497 . ordo:Orphanet_93457 a rdfs:Class ; rdfs:label "Non-syndromic limb reduction defect" ; rdfs:subClassOf ordo:Orphanet_109011 , ordo:Orphanet_364568 , ordo:Orphanet_404571 . a rdfs:Class ; rdfs:label "isolated microphthalmia" ; rdfs:comment "A microphthalmia that is not part of a larger syndrome." ; rdfs:subClassOf . ordo:Orphanet_409943 a rdfs:Class ; rdfs:label "antenatal"@en ; rdfs:subClassOf ordo:Orphanet_C023 . ordo:Orphanet_183487 a rdfs:Class ; rdfs:label "Genetic skin tumor" ; rdfs:subClassOf ordo:Orphanet_68336 , , . ordo:Orphanet_93220 a rdfs:Class ; rdfs:label "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" ; rdfs:subClassOf ordo:Orphanet_377797 , ordo:Orphanet_84271 . ordo:Orphanet_1303 a rdfs:Class ; rdfs:label "Bronchiolitis obliterans with obstructive pulmonary disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_207025 a rdfs:Class ; rdfs:label "Rare hereditary neurologic disease with peripheral neuropathy" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_207015 . ordo:Orphanet_230 a rdfs:Class ; rdfs:label "Dopamine beta-hydroxylase deficiency" ; rdfs:comment "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_309830 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_98578 , , . ordo:Orphanet_262749 a rdfs:Class ; rdfs:label "Partial duplication of the short arm of chromosome 7" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_262633 . a rdfs:Class ; rdfs:label "muscle tissue disease" ; rdfs:comment "A disease involving the muscle tissue." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "vascular anomaly" ; 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:subClassOf . a rdfs:Class ; rdfs:label "polycystic kidney disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_23 a rdfs:Class ; rdfs:label "Argininosuccinic aciduria" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79167 . ordo:Orphanet_2420 a rdfs:Class ; rdfs:label "Primary pulmonary lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "gingival overgrowth" ; rdfs:comment "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)" ; rdfs:subClassOf . ordo:Orphanet_319651 a rdfs:Class ; rdfs:label "Constitutional megaloblastic anemia with severe neurologic disease" ; rdfs:subClassOf ordo:Orphanet_285657 , ordo:Orphanet_377788 , ordo:Orphanet_79158 , ordo:Orphanet_98408 , . ordo:Orphanet_2006 a rdfs:Class ; rdfs:label "Median cleft lip/mandibule"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_266 a rdfs:Class ; rdfs:label "Autosomal dominant limb-girdle muscular dystrophy type 1A" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102014 , ordo:Orphanet_209224 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "cholesterol metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of cholesterol metabolic process." ; rdfs:subClassOf ordo:Orphanet_79226 . ordo:Orphanet_415 a rdfs:Class ; rdfs:label "Hyperornithinemia-hyperammonemia-homocitrullinuria" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79167 , . a rdfs:Class ; rdfs:label "PEComa" ; rdfs:comment "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "material property" ; rdfs:comment "An experimental factor which is a property or characteristic of some other entity. For example, the mouse has the colour white." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "neurovascular disease" ; rdfs:comment "A disorder of the nervous system related to a vascular etiology." ; rdfs:subClassOf , . ordo:Orphanet_140976 a rdfs:Class ; rdfs:label "RHYNS syndrome" ; rdfs:comment "RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_93587 , ordo:Orphanet_98661 , . ordo:Orphanet_2828 a rdfs:Class ; rdfs:label "Young adult-onset Parkinsonism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_307055 , ordo:Orphanet_377788 , , . ordo:Orphanet_79378 a rdfs:Class ; rdfs:label "Dermis elastic tissue disorder"@en ; rdfs:subClassOf ordo:Orphanet_79377 . ordo:Orphanet_98553 a rdfs:Class ; rdfs:label "Developmental defect of the eye"@en ; rdfs:subClassOf ordo:Orphanet_93890 . ordo:Orphanet_33543 a rdfs:Class ; rdfs:label "Kleine-Levin syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98649 a rdfs:Class ; rdfs:label "Dentocutaneous disease with cataract" ; rdfs:subClassOf ordo:Orphanet_98643 . a rdfs:Class ; rdfs:label "hyperaldosteronism" ; rdfs:comment "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." ; rdfs:subClassOf . ordo:Orphanet_182228 a rdfs:Class ; rdfs:label "Systemic autoimmune disease"@en ; rdfs:subClassOf ordo:Orphanet_182222 . ordo:Orphanet_183524 a rdfs:Class ; rdfs:label "Rare genetic bone disease" ; rdfs:subClassOf ordo:Orphanet_98053 , , . ordo:Orphanet_48918 a rdfs:Class ; rdfs:label "Focal myositis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "cataract" ; rdfs:comment "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)" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Third Degree Relative" ; rdfs:comment "Any individual related biologically or legally to another individual and considered two degrees removed from the immediate family as in the case of cousins." ; rdfs:subClassOf . ordo:Orphanet_2237 a rdfs:Class ; rdfs:label "Hypoparathyroidism - deafness - renal disease" ; rdfs:comment "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." ; rdfs:subClassOf ordo:Orphanet_181402 , ordo:Orphanet_261938 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , ordo:Orphanet_93547 , . ordo:Orphanet_269564 a rdfs:Class ; rdfs:label "Genetic syndrome with a central nervous system malformation as major feature" ; rdfs:subClassOf ordo:Orphanet_183506 , . ordo:Orphanet_275752 a rdfs:Class ; rdfs:label "Sickle cell disease and related diseases" ; rdfs:subClassOf ordo:Orphanet_466066 , , . ordo:Orphanet_52688 a rdfs:Class ; rdfs:label "Myelodysplastic syndrome"@en ; rdfs:subClassOf ordo:Orphanet_171895 . ordo:Orphanet_181415 a rdfs:Class ; rdfs:label "Rare primary hyperaldosteronism"@en ; rdfs:subClassOf ordo:Orphanet_101954 . ordo:Orphanet_399846 a rdfs:Class ; rdfs:label "Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" ; rdfs:comment "Editor note: consider merge" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_399839 . a rdfs:Class ; rdfs:label "Finding" ; rdfs:comment "Clinical, laboratory or molecular evidence, or absence of evidence of disease." ; rdfs:subClassOf . ordo:Orphanet_90692 a rdfs:Class ; rdfs:label "Rare endocrine growth disease"@en ; rdfs:subClassOf ordo:Orphanet_97978 . ordo:Orphanet_98733 a rdfs:Class ; rdfs:label "Noonan syndrome and Noonan-related syndrome" ; rdfs:subClassOf ordo:Orphanet_139021 , ordo:Orphanet_156532 , ordo:Orphanet_183570 , ordo:Orphanet_217595 , ordo:Orphanet_536391 , . ordo:Orphanet_475 a rdfs:Class ; rdfs:label "Joubert syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_140874 , , . ordo:Orphanet_399388 a rdfs:Class ; rdfs:label "Avascular necrosis of genetic origin" ; rdfs:comment "An instance of avascular necrosis that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_399380 , . a rdfs:Class ; rdfs:label "Family Member" ; rdfs:comment "Any of the individuals who are descended from a common progenitor, related by marriage or other legal tie, or by a feeling of closeness." ; rdfs:subClassOf . ordo:Orphanet_93372 a rdfs:Class ; rdfs:label "Familial hypocalciuric hypercalcemia type 1" ; rdfs:comment "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_405 . ordo:Orphanet_536391 a rdfs:Class ; rdfs:label "RASopathy"@en ; rdfs:subClassOf ordo:Orphanet_98053 . a rdfs:Class ; rdfs:label "disease of macromolecular complex" ; rdfs:subClassOf . ordo:Orphanet_158124 a rdfs:Class ; rdfs:label "Genetic dementia" ; rdfs:comment "Genetic dementia." ; rdfs:subClassOf ordo:Orphanet_71859 , . ordo:Orphanet_169139 a rdfs:Class ; rdfs:label "Transient hypogammaglobulinemia of infancy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "blood protein disease" ; rdfs:subClassOf . ordo:Orphanet_1192 a rdfs:Class ; rdfs:label "Atherosclerosis - deafness - diabetes - epilepsy - nephropathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_166463 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , ordo:Orphanet_93547 . a rdfs:Class ; rdfs:label "GATA2 deficiency with susceptibility to MDS/AML" ; rdfs:comment "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])." ; rdfs:subClassOf . ordo:Orphanet_93449 a rdfs:Class ; rdfs:label "Primary osteolysis" ; rdfs:subClassOf ordo:Orphanet_364526 . a rdfs:Class ; rdfs:label "glucose metabolism disease" ; rdfs:comment "A metabolic disorder characterized by abnormal blood glucose levels." ; rdfs:subClassOf . ordo:Orphanet_399685 a rdfs:Class ; rdfs:label "Rare male infertility due to testicular endocrine disorder" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_399572 , ordo:Orphanet_399983 . ordo:Orphanet_169147 a rdfs:Class ; rdfs:label "Immunodeficiency due to an early component of complement deficiency" ; rdfs:subClassOf ordo:Orphanet_101992 , ordo:Orphanet_377788 . ordo:Orphanet_2970 a rdfs:Class ; rdfs:label "Prune belly syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_165707 , ordo:Orphanet_357506 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , , . ordo:Orphanet_98062 a rdfs:Class ; rdfs:label "Rare nervous system tumor"@en ; rdfs:subClassOf ordo:Orphanet_98006 , ordo:Orphanet_98057 . a rdfs:Class ; rdfs:label "skin appendage disease" ; rdfs:comment "A disease that involves the cutaneous appendage." ; rdfs:subClassOf . ordo:Orphanet_377797 a rdfs:Class ; rdfs:label "histopathological subtype"@en ; rdfs:subClassOf ordo:Orphanet_C001 . a rdfs:Class ; rdfs:label "Vasculitis Ireland Network registry" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_98159 a rdfs:Class ; rdfs:label "Chromosome X structural anomaly" ; rdfs:subClassOf ordo:Orphanet_98157 . a rdfs:Class ; rdfs:label "skin carcinoma" ; rdfs:comment "A carcinoma that arises from epithelial cells of the zone of skin" ; rdfs:subClassOf , , . ordo:Orphanet_416 a rdfs:Class ; rdfs:label "Primary hyperoxaluria" ; rdfs:comment "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." ; rdfs:subClassOf ordo:Orphanet_308998 , ordo:Orphanet_377788 , ordo:Orphanet_93593 , ordo:Orphanet_98666 , ordo:Orphanet_98713 . ordo:Orphanet_98648 a rdfs:Class ; rdfs:label "Musculoskeletal disease with cataract" ; rdfs:subClassOf ordo:Orphanet_522548 , ordo:Orphanet_98643 , . ordo:Orphanet_183478 a rdfs:Class ; rdfs:label "Genetic skin vascular disorder" ; rdfs:subClassOf ordo:Orphanet_183472 . a rdfs:Class ; rdfs:label "lentigo" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_2538 a rdfs:Class ; rdfs:label "Microgastria-limb reduction defect syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377789 . a rdfs:Class ; rdfs:label "limb disorder" ; rdfs:comment "A disease or disorder that involves the limb." ; rdfs:subClassOf . ordo:Orphanet_309447 a rdfs:Class ; rdfs:label "Disorder of protein O-glycosylation" ; rdfs:comment "A disease that has its basis in the disruption of protein O-linked glycosylation." ; rdfs:subClassOf ordo:Orphanet_137 , . ordo:Orphanet_1125 a rdfs:Class ; rdfs:label "Ocular motor apraxia, Cogan type" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98688 . ordo:Orphanet_399169 a rdfs:Class ; rdfs:label "Secondary avascular necrosis"@en ; rdfs:subClassOf ordo:Orphanet_399164 . a rdfs:Class ; rdfs:label "Europe" . ordo:Orphanet_48471 a rdfs:Class ; rdfs:label "Lissencephaly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_166478 , ordo:Orphanet_183763 , ordo:Orphanet_269564 , . a rdfs:Class ; rdfs:label "neuroepithelial neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_C023 a rdfs:Class ; rdfs:label "age of onset"@en ; rdfs:subClassOf . ordo:Orphanet_183622 a rdfs:Class ; rdfs:label "Genetic respiratory malformation" ; rdfs:subClassOf ordo:Orphanet_156610 , . ordo:Orphanet_758 a rdfs:Class ; rdfs:label "Pseudoxanthoma elasticum" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139027 , ordo:Orphanet_139030 , ordo:Orphanet_156629 , ordo:Orphanet_183503 , ordo:Orphanet_217635 , ordo:Orphanet_228215 , ordo:Orphanet_377788 , ordo:Orphanet_98702 , , , . ordo:Orphanet_79175 a rdfs:Class ; rdfs:label "Disorder of gamma-aminobutyric acid metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." ; rdfs:subClassOf ordo:Orphanet_79214 , . ordo:Orphanet_324761 a rdfs:Class ; rdfs:label "Microcephalic primordial dwarfism" ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_183763 , ordo:Orphanet_269528 , ordo:Orphanet_93440 , . ordo:Orphanet_2678 a rdfs:Class ; rdfs:label "Neurofibromatosis type 6" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183466 , ordo:Orphanet_377789 . ordo:Orphanet_431353 a rdfs:Class ; rdfs:label "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"@en ; rdfs:subClassOf ordo:Orphanet_156610 , ordo:Orphanet_71198 . a rdfs:Class ; rdfs:label "retroperitoneum carcinoma" ; rdfs:comment "A carcinoma that arises from epithelial cells of the retroperitoneal space." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hearing disorder" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "benign neoplasm of eye" ; rdfs:comment "A benign neoplasm that involves the eye." ; rdfs:subClassOf , . ordo:Orphanet_449 a rdfs:Class ; rdfs:label "Hepatoblastoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "developmental disorder of mental health" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hyperimmunoglobulin syndrome" ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "Biological Relative" ; rdfs:comment "A person related by descent rather than by marriage or law." ; rdfs:subClassOf . ordo:Orphanet_180220 a rdfs:Class ; rdfs:label "Rare uterine adnexal tumor"@en ; rdfs:subClassOf ordo:Orphanet_98063 . ordo:Orphanet_98702 a rdfs:Class ; rdfs:label "Connective tissue disease with eye involvement" ; rdfs:subClassOf ordo:Orphanet_101435 , . ordo:Orphanet_391799 a rdfs:Class ; rdfs:label "Rare genetic dystonia" ; rdfs:comment "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_496916 , . ordo:Orphanet_98693 a rdfs:Class ; rdfs:label "Spinocerebellar ataxia with oculomotor anomaly" ; rdfs:subClassOf ordo:Orphanet_98692 . ordo:Orphanet_404 a rdfs:Class ; rdfs:label "Familial hyperaldosteronism type II" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_235936 , ordo:Orphanet_271847 , ordo:Orphanet_371861 , ordo:Orphanet_377788 , , . ordo:Orphanet_79219 a rdfs:Class ; rdfs:label "Metabolic disease involving other neurotransmitter deficiency" ; rdfs:subClassOf ordo:Orphanet_225707 , ordo:Orphanet_71859 , ordo:Orphanet_79214 , . ordo:Orphanet_371445 a rdfs:Class ; rdfs:label "Genetic syndromic esophageal malformation" ; rdfs:comment "A esophageal malformation that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_88993 , . ordo:Orphanet_182095 a rdfs:Class ; rdfs:label "Interstitial lung disease"@en ; rdfs:subClassOf ordo:Orphanet_101944 . a rdfs:Class ; rdfs:label "Moyomoya angiopathy" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "cranial nerve neuropathy" ; rdfs:comment "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." ; rdfs:subClassOf , . ordo:Orphanet_94089 a rdfs:Class ; rdfs:label "Pseudohypoparathyroidism type 1B" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_275808 a rdfs:Class ; rdfs:label "Pulmonary arterial hypertension associated with HIV infection"@en ; rdfs:subClassOf ordo:Orphanet_275791 . a rdfs:Class ; rdfs:label "transposition of the great arteries" ; rdfs:comment "A congenital cardiac defect in which two heart vessels are reversed (transposed)." ; rdfs:subClassOf . ordo:Orphanet_68367 a rdfs:Class ; rdfs:label "Inborn errors of metabolism" ; rdfs:comment "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" ; rdfs:subClassOf ordo:Orphanet_98053 , , . ordo:Orphanet_108987 a rdfs:Class ; rdfs:label "Syndromic developmental defect of the eye" ; rdfs:comment "A developmental defect of the eye that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183557 , . ordo:Orphanet_289157 a rdfs:Class ; rdfs:label "Hypocalcemic vitamin D-dependent rickets" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_289103 , ordo:Orphanet_377788 , . ordo:Orphanet_98616 a rdfs:Class ; rdfs:label "Conjunctival tumor" ; rdfs:comment "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma." ; rdfs:subClassOf ordo:Orphanet_98610 , , . ordo:Orphanet_96076 a rdfs:Class ; rdfs:label "Beckwith-Wiedemann syndrome due to 11p15 microduplication" ; rdfs:subClassOf ordo:Orphanet_116 , ordo:Orphanet_262785 , ordo:Orphanet_377795 , . ordo:Orphanet_269573 a rdfs:Class ; rdfs:label "Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_269564 , . ordo:Orphanet_139021 a rdfs:Class ; rdfs:label "Malformation syndrome with short stature"@en ; rdfs:subClassOf ordo:Orphanet_93890 . a rdfs:Class ; rdfs:label "inherited amino acid metabolic disorder" ; rdfs:comment "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." ; rdfs:subClassOf , ordo:Orphanet_289899 . a rdfs:Class ; rdfs:label "vitamin deficiency disorder" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_98713 a rdfs:Class ; rdfs:label "Metabolic disease with pigmentary retinitis" ; rdfs:subClassOf ordo:Orphanet_98710 . a rdfs:Class ; rdfs:label "microcephaly, growth restriction and increased sister chromatid exchange" ; rdfs:subClassOf ordo:Orphanet_169346 . ordo:Orphanet_68383 a rdfs:Class ; rdfs:label "Rare constitutional medullar aplasia" ; rdfs:subClassOf ordo:Orphanet_182040 . ordo:Orphanet_306719 a rdfs:Class ; rdfs:label "Neurodegenerative disease with chorea" ; rdfs:subClassOf ordo:Orphanet_183500 , ordo:Orphanet_183521 . a rdfs:Class ; rdfs:label "glandular cell neoplasm" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "non-infectious posterior uveitis" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "cardiovascular organ benign neoplasm" ; rdfs:comment "A benign neoplasm that involves the cardiovascular system." ; rdfs:subClassOf , . ordo:Orphanet_109011 a rdfs:Class ; rdfs:label "Non-syndromic limb malformation" ; rdfs:subClassOf ordo:Orphanet_183536 , ordo:Orphanet_68378 , . ordo:Orphanet_31740 a rdfs:Class ; rdfs:label "Hypersensitivity pneumonitis"@en ; rdfs:subClassOf ordo:Orphanet_264984 , ordo:Orphanet_98052 . ordo:Orphanet_783 a rdfs:Class ; rdfs:label "Rubinstein-Taybi syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_108987 , ordo:Orphanet_183422 , ordo:Orphanet_183570 , ordo:Orphanet_183763 , ordo:Orphanet_240371 , ordo:Orphanet_261956 , ordo:Orphanet_377789 , ordo:Orphanet_69028 , ordo:Orphanet_93547 , ordo:Orphanet_98638 , ordo:Orphanet_98655 , ordo:Orphanet_98666 , , , , . a rdfs:Class ; rdfs:label "Intellectual Property" ; rdfs:comment "Creations of the mind, such as those created by musicians, authors, artists, and inventors." ; rdfs:subClassOf . ordo:Orphanet_71203 a rdfs:Class ; rdfs:label "Autoimmune thrombocytopenia"@en ; rdfs:subClassOf ordo:Orphanet_248347 . a rdfs:Class ; rdfs:label "tetrahydrobiopterin metabolic process disease" ; rdfs:comment "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process." ; rdfs:subClassOf ordo:Orphanet_284814 . ordo:Orphanet_102003 a rdfs:Class ; rdfs:label "Rare movement disorder"@en ; rdfs:subClassOf ordo:Orphanet_98006 . a rdfs:Class ; rdfs:label "female reproductive organ cancer" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_98127 a rdfs:Class ; rdfs:label "Autosomal anomaly" ; rdfs:comment "A chromosomal anomaly that involves an autosome." ; rdfs:subClassOf ordo:Orphanet_68335 . a rdfs:Class ; rdfs:label "ovarian disease" ; rdfs:comment "A disease involving the ovary." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Country" ; rdfs:subClassOf . a rdf:Property ; rdfs:range . ordo:Orphanet_98408 a rdfs:Class ; rdfs:label "Constitutional megaloblastic anemia due to folate metabolism disorder" ; rdfs:subClassOf ordo:Orphanet_248296 , ordo:Orphanet_289899 , , . ordo:Orphanet_2750 a rdfs:Class ; rdfs:label "Orofaciodigital syndrome type 1" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_140997 , ordo:Orphanet_183460 , ordo:Orphanet_377789 , ordo:Orphanet_79373 , ordo:Orphanet_90642 , ordo:Orphanet_93547 , ordo:Orphanet_93587 , ordo:Orphanet_98464 , , . ordo:Orphanet_653 a rdfs:Class ; rdfs:label "Multiple endocrine neoplasia type 2" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_276161 , ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "retina neoplasm" ; rdfs:comment "A neoplasm (disease) that involves the retina." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "Rare Anaemia Disorders European Epidemiological Platform" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_290849 a rdfs:Class ; rdfs:label "Rare head and neck tumor"@en ; rdfs:subClassOf ordo:Orphanet_98057 . ordo:Orphanet_79201 a rdfs:Class ; rdfs:label "Glycogen storage disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_79161 , ordo:Orphanet_79200 . ordo:Orphanet_262785 a rdfs:Class ; rdfs:label "Partial duplication of the short arm of chromosome 11" ; rdfs:subClassOf ordo:Orphanet_262653 . a rdfs:Class ; rdfs:label "malabsorption syndrome" ; rdfs:comment "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea." ; rdfs:subClassOf . ordo:Orphanet_289098 a rdfs:Class ; rdfs:label "Disorders of vitamin D metabolism" ; rdfs:subClassOf ordo:Orphanet_183634 , ordo:Orphanet_68415 , ordo:Orphanet_93447 , , . ordo:Orphanet_209188 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of emerin" ; rdfs:subClassOf ordo:Orphanet_207049 . a rdfs:Class ; rdfs:label "hereditary nephritis" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_269557 a rdfs:Class ; rdfs:label "Genetic posterior fossa malformation" ; rdfs:subClassOf ordo:Orphanet_269550 . ordo:Orphanet_227796 a rdfs:Class ; rdfs:label "Fundus albipunctatus" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_227786 , ordo:Orphanet_377788 . ordo:Orphanet_79298 a rdfs:Class ; rdfs:label "Diazoxide-resistant focal hyperinsulinism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_276585 . ordo:Orphanet_79062 a rdfs:Class ; rdfs:label "Disorder of amino acid and other organic acid metabolism" ; rdfs:subClassOf ordo:Orphanet_68367 . ordo:Orphanet_98289 a rdfs:Class ; rdfs:label "Dendritic cell tumor"@en ; rdfs:subClassOf ordo:Orphanet_98287 . ordo:Orphanet_60033 a rdfs:Class ; rdfs:label "Idiopathic bronchiectasis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "renal tubular transport disease" ; rdfs:comment "Genetic defects in the selective or non-selective transport functions of the kidney tubules." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "osteonecrosis" ; rdfs:comment "Death of a bone or part of a bone, either atraumatic or posttraumatic." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Serbia" . ordo:Orphanet_309839 a rdfs:Class ; rdfs:label "Disorder of copper metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis." ; rdfs:subClassOf ordo:Orphanet_309836 . ordo:Orphanet_89043 a rdfs:Class ; rdfs:label "Rare dementia"@en ; rdfs:subClassOf ordo:Orphanet_98033 . ordo:Orphanet_2542 a rdfs:Class ; rdfs:label "Isolated anophthalmia - microphthalmia" ; rdfs:comment "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." ; rdfs:subClassOf ordo:Orphanet_108985 , ordo:Orphanet_98555 , . ordo:Orphanet_610 a rdfs:Class ; rdfs:label "Bethlem myopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206644 , ordo:Orphanet_207090 , ordo:Orphanet_377788 , ordo:Orphanet_97242 , . a rdfs:Class ; rdfs:label "neuroendocrine neoplasm" ; rdfs:comment "A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." ; rdfs:subClassOf . ordo:Orphanet_276525 a rdfs:Class ; rdfs:label "Familial hyperinsulinism" ; rdfs:comment "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_156638 , ordo:Orphanet_443095 , ordo:Orphanet_68367 , , . a rdfs:Class ; rdfs:label "bilirubin metabolism disease" ; rdfs:subClassOf . ordo:Orphanet_399831 a rdfs:Class ; rdfs:label "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder"@en ; rdfs:subClassOf ordo:Orphanet_98049 . ordo:Orphanet_2368 a rdfs:Class ; rdfs:label "Gastroschisis"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_1064 a rdfs:Class ; rdfs:label "Aniridia - renal agenesis - psychomotor retardation" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_98557 , , . ordo:Orphanet_27 a rdfs:Class ; rdfs:label "Vitamin B12-unresponsive methylmalonic acidemia" ; rdfs:comment " (see these terms)." ; rdfs:subClassOf ordo:Orphanet_293355 , ordo:Orphanet_377788 , ordo:Orphanet_93593 . a rdfs:Class ; rdfs:label "epilepsy" ; rdfs:comment "A disorder characterized by recurrent seizures" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "erythrocyte disease" ; rdfs:comment "A disease or disorder that involves the erythrocyte." ; rdfs:subClassOf , . ordo:Orphanet_263749 a rdfs:Class ; rdfs:label "X and Y chromosomal anomaly" ; rdfs:subClassOf ordo:Orphanet_98156 . a rdfs:Class ; rdfs:label "respiratory system disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_319328 a rdfs:Class ; rdfs:label "Inherited renal cancer-predisposing syndrome" ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_93626 , . ordo:Orphanet_319563 a rdfs:Class ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_319535 , ordo:Orphanet_377788 . ordo:Orphanet_439849 a rdfs:Class ; rdfs:label "Autosomal recessive severe congenital neutropenia"@en ; rdfs:subClassOf ordo:Orphanet_42738 . a rdfs:Class ; rdfs:label "inborn mitochondrial metabolism disorder" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_68380 . ordo:Orphanet_95710 a rdfs:Class ; rdfs:label "Non-acquired premature ovarian failure" ; rdfs:comment "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_156638 , ordo:Orphanet_202940 , , , . ordo:Orphanet_309458 a rdfs:Class ; rdfs:label "Disorder of O-N-acetylgalactosaminylglycan synthesis" ; rdfs:subClassOf ordo:Orphanet_309447 . ordo:Orphanet_174590 a rdfs:Class ; rdfs:label "Congenital hypogonadotropic hypogonadism" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_180208 , ordo:Orphanet_202940 , ordo:Orphanet_399572 , ordo:Orphanet_399983 , ordo:Orphanet_95488 , , . a rdfs:Class ; rdfs:subClassOf . ordo:Orphanet_98666 a rdfs:Class ; rdfs:label "Unclassified primitive or secondary maculopathy" ; rdfs:subClassOf ordo:Orphanet_98664 . a rdfs:Class ; rdfs:label "cerebellar disease" ; rdfs:comment "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "viral infection of central nervous system" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "male infertility due to obstructive azoospermia" ; rdfs:subClassOf . ordo:Orphanet_91385 a rdfs:Class ; rdfs:label "Acquired angioedema"@en ; rdfs:subClassOf ordo:Orphanet_658 . ordo:Orphanet_98671 a rdfs:Class ; rdfs:label "Optic neuropathy" ; rdfs:subClassOf ordo:Orphanet_101435 . a rdfs:Class ; rdfs:label "retinal ciliopathy" ; rdfs:subClassOf , , ordo:Orphanet_71859 . ordo:Orphanet_520814 a rdfs:Class ; rdfs:label "Rare disorder of the visual organs"@en ; rdfs:subClassOf ordo:Orphanet_97966 . ordo:Orphanet_182073 a rdfs:Class ; rdfs:label "Syndromic neurometabolic disease with non-X-linked intellectual disability" ; rdfs:subClassOf ordo:Orphanet_183763 , ordo:Orphanet_68385 , . ordo:Orphanet_98589 a rdfs:Class ; rdfs:label "Palpebral malignant melanoma" ; rdfs:subClassOf ordo:Orphanet_98586 . ordo:Orphanet_200418 a rdfs:Class ; rdfs:label "Immunodeficiency with factor I anomaly" ; rdfs:subClassOf ordo:Orphanet_101992 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Data Management" ; rdfs:comment "Processes for data acquisition, validation, storage, protection, and processing." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "myopathy" ; rdfs:comment "a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "congenital hematological disorder" ; rdfs:comment "A disorder of the blood that is present at birth." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Multiple Pregnancy" ; rdfs:comment "A gestation with more than one fertilized egg implanted as a viable fetus in the uterus." ; rdfs:subClassOf . ordo:Orphanet_389 a rdfs:Class ; rdfs:label "Langerhans cell histiocytosis"@en ; rdfs:subClassOf ordo:Orphanet_182222 , ordo:Orphanet_98289 . a rdfs:Class ; rdfs:label "lacrimal apparatus disease" ; rdfs:comment "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." ; rdfs:subClassOf . ordo:Orphanet_139027 a rdfs:Class ; rdfs:label "Malformation syndrome with skin/mucosae involvement" ; rdfs:subClassOf ordo:Orphanet_183530 , ordo:Orphanet_93890 , . a rdfs:Class ; rdfs:label "independent continuant"@en ; rdfs:comment "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 ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "JRC Central Authority" ; rdfs:subClassOf . ordo:Orphanet_99886 a rdfs:Class ; rdfs:label "Transient neonatal diabetes mellitus" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_224 , ordo:Orphanet_377788 . ordo:Orphanet_522524 a rdfs:Class ; rdfs:label "Rare genetic disorder of the ocular adnexa"@en ; rdfs:subClassOf ordo:Orphanet_522504 . ordo:Orphanet_73273 a rdfs:Class ; rdfs:label "Growth delay due to insulin-like growth factor I resistance" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_181393 , ordo:Orphanet_377788 . ordo:Orphanet_231137 a rdfs:Class ; rdfs:label "Silver-Russell syndrome due to 7p11.2p13 microduplication" ; rdfs:subClassOf ordo:Orphanet_262749 , ordo:Orphanet_377795 , ordo:Orphanet_813 . ordo:Orphanet_2076 a rdfs:Class ; rdfs:label "X-linked intellectual disability - epilepsy" ; rdfs:subClassOf ordo:Orphanet_166472 , ordo:Orphanet_98464 . a rdfs:Class ; rdfs:label "glomerular disease" ; rdfs:comment "A disease involving the renal glomerulus." ; rdfs:subClassOf . ordo:Orphanet_718 a rdfs:Class ; rdfs:label "Isolated Pierre Robin syndrome" ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_156237 , ordo:Orphanet_377789 , ordo:Orphanet_98638 . ordo:Orphanet_229717 a rdfs:Class ; rdfs:label "Isolated agammaglobulinemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183669 . ordo:Orphanet_263 a rdfs:Class ; rdfs:label "Limb-girdle muscular dystrophy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_206644 . ordo:Orphanet_910 a rdfs:Class ; rdfs:label "Xeroderma pigmentosum" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139027 , ordo:Orphanet_183422 , ordo:Orphanet_183490 , ordo:Orphanet_363245 , ordo:Orphanet_377788 , ordo:Orphanet_98097 , , . ordo:Orphanet_98152 a rdfs:Class ; rdfs:label "Autosomal uniparental disomy" ; rdfs:subClassOf ordo:Orphanet_98127 . a rdfs:Class ; rdfs:label "lymphangiectasis" ; rdfs:comment "Dilatation of the lymphatic vessels." ; rdfs:seeAlso ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "skin disease" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "islet cell adenomatosis" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Spñanish National Rare Diseases Biobank" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "congestive heart failure" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "malformation of the cerebellar vermis" ; rdfs:subClassOf ordo:Orphanet_269560 . ordo:Orphanet_899 a rdfs:Class ; rdfs:label "Walker-Warburg syndrome" ; rdfs:comment "Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." ; rdfs:subClassOf ordo:Orphanet_207119 , ordo:Orphanet_207122 , ordo:Orphanet_209024 , ordo:Orphanet_209030 , ordo:Orphanet_209033 , ordo:Orphanet_309469 , ordo:Orphanet_352687 , ordo:Orphanet_371064 , ordo:Orphanet_371071 , ordo:Orphanet_371235 , ordo:Orphanet_377788 , ordo:Orphanet_98669 , ordo:Orphanet_98689 . a rdfs:Class ; rdfs:label "Ukraine" . ordo:Orphanet_101330 a rdfs:Class ; rdfs:label "Porphyria cutanea tarda" ; rdfs:comment "Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_95161 , ordo:Orphanet_98696 , . ordo:Orphanet_181441 a rdfs:Class ; rdfs:label "Rare disorder with hypergonadotropic hypogonadism" ; rdfs:subClassOf ordo:Orphanet_156638 , ordo:Orphanet_399685 . ordo:Orphanet_202940 a rdfs:Class ; rdfs:label "Anomaly of puberty or/and menstrual cycle of genetic origin" ; rdfs:comment "An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183731 , . ordo:Orphanet_91359 a rdfs:Class ; rdfs:label "Chronic pneumonitis of infancy"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_182067 a rdfs:Class ; rdfs:label "Glial tumor"@en ; rdfs:subClassOf ordo:Orphanet_251558 . ordo:Orphanet_93552 a rdfs:Class ; rdfs:label "Pediatric systemic lupus erythematosus"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Occupation" ; rdfs:comment "The principal activity that a person does to earn money." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare maxillo-facial surgical disease" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_477661 a rdfs:Class ; rdfs:label "IL21-related infantile inflammatory bowel disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98369 a rdfs:Class ; rdfs:label "Rare constitutional hemolytic anemia due to an enzyme disorder" ; rdfs:comment "Editor note: consider merging with parent" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_182043 , , . a rdfs:Class ; rdfs:label "plasma protein metabolism disease" ; rdfs:comment "An inherited metabolic disorder that involves plasma protein metabolism malfunction." ; rdfs:subClassOf ordo:Orphanet_68367 . a rdfs:Class ; rdfs:label "Parkinson's disease" ; rdfs:comment "A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions." ; rdfs:subClassOf , . ordo:Orphanet_101953 a rdfs:Class ; rdfs:label "Rare dyslipidemia" ; rdfs:subClassOf ordo:Orphanet_156638 , ordo:Orphanet_309005 , ordo:Orphanet_97978 . a rdfs:Class ; rdfs:label "syndromic respiratory or mediastinal malformation" ; rdfs:comment "A respiratory or mediastinal malformation that is part of a larger syndrome." ; rdfs:subClassOf , ordo:Orphanet_183554 . ordo:Orphanet_315350 a rdfs:Class ; rdfs:label "Autoimmune disease with skin involvement"@en ; rdfs:subClassOf ordo:Orphanet_89826 . ordo:Orphanet_1186 a rdfs:Class ; rdfs:label "Infantile onset spinocerebellar ataxia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_254871 , ordo:Orphanet_377788 , ordo:Orphanet_98098 , ordo:Orphanet_98543 . ordo:Orphanet_98004 a rdfs:Class ; rdfs:label "Rare immune disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_227990 a rdfs:Class ; rdfs:label "Autoimmune polyendocrinopathy type 4"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "small intestine disease" ; rdfs:comment "A disease that involves the small intestine." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "spinal muscular atrophy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "lower respiratory tract disease" ; rdfs:comment "A disease that affects the lower respiratory tract." ; rdfs:subClassOf . ordo:Orphanet_423662 a rdfs:Class ; rdfs:label "Rare autonomic nervous system disorder"@en ; rdfs:subClassOf ordo:Orphanet_98006 . a rdfs:Class ; rdfs:label "renal carcinoma" ; rdfs:comment "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" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "disease of transporter activity" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "abnormality of blood and blood-forming tissues" ; rdfs:comment "An abnormality of the hematopoietic system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "xanthinuria" ; rdfs:comment "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine." ; rdfs:subClassOf . ordo:Orphanet_220 a rdfs:Class ; rdfs:label "Denys-Drash syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102373 , ordo:Orphanet_183422 , ordo:Orphanet_325638 , ordo:Orphanet_377788 , ordo:Orphanet_98087 , . ordo:Orphanet_158300 a rdfs:Class ; rdfs:label "Rare genetic hematologic disease" ; rdfs:subClassOf ordo:Orphanet_98053 , , . a rdfs:Class ; rdfs:label "ocular cancer" ; rdfs:comment "A benign or malignant neoplasm affecting the structures of the eye." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "disease of visual system" ; rdfs:comment "A disease that involves the visual system." ; rdfs:subClassOf . ordo:Orphanet_206959 a rdfs:Class ; rdfs:label "Muscular glycogenosis" ; rdfs:subClassOf ordo:Orphanet_98486 . a rdfs:Class ; rdfs:label "hematopoietic and lymphoid system neoplasm" ; rdfs:comment "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" ; rdfs:subClassOf , . ordo:Orphanet_306539 a rdfs:Class ; rdfs:label "Hereditary acrokeratotic poikiloderma of Kindler-Weary" ; rdfs:subClassOf ordo:Orphanet_183490 , . ordo:Orphanet_309279 a rdfs:Class ; rdfs:label "Glycoproteinosis" ; rdfs:comment "See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_68366 . ordo:Orphanet_264949 a rdfs:Class ; rdfs:label "Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease"@en ; rdfs:subClassOf ordo:Orphanet_264944 . a rdfs:Class ; rdfs:label "Radboud Biobank" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "nephrosis" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_101960 a rdfs:Class ; rdfs:label "Genetic chronic primary adrenal insufficiency" ; rdfs:comment "Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." ; rdfs:subClassOf ordo:Orphanet_101959 , ordo:Orphanet_183637 , . ordo:Orphanet_261816 a rdfs:Class ; rdfs:label "Partial deletion of chromosome 11" ; rdfs:subClassOf ordo:Orphanet_98142 . ordo:Orphanet_98706 a rdfs:Class ; rdfs:label "Oculocutaneous or ocular albinism" ; rdfs:comment "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." ; rdfs:subClassOf ordo:Orphanet_98700 , . ordo:Orphanet_90795 a rdfs:Class ; rdfs:label "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_377788 , ordo:Orphanet_418 , ordo:Orphanet_90776 . ordo:Orphanet_97242 a rdfs:Class ; rdfs:label "Congenital muscular dystrophy" ; rdfs:comment " and Nesprin-1-related CMD; see these terms)." ; rdfs:subClassOf ordo:Orphanet_98473 . ordo:Orphanet_335 a rdfs:Class ; rdfs:label "Congenital fibrinogen deficiency" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68334 . ordo:Orphanet_79169 a rdfs:Class ; rdfs:label "Disorder of neurotransmitter metabolism and transport" ; rdfs:subClassOf ordo:Orphanet_79214 . a rdfs:Class ; rdfs:label "Slovakia" . ordo:Orphanet_263717 a rdfs:Class ; rdfs:label "X chromosome number anomaly with female phenotype" ; rdfs:subClassOf ordo:Orphanet_263714 . a rdfs:Class ; rdfs:label "thyroid disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_183625 a rdfs:Class ; rdfs:label "Rare genetic diabetes mellitus" ; rdfs:subClassOf ordo:Orphanet_156638 , ordo:Orphanet_68367 , . a rdfs:Class ; rdfs:label "European Rare Kidney Disease Registry" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_2020 a rdfs:Class ; rdfs:label "Congenital fiber-type disproportion myopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_209059 , ordo:Orphanet_209193 , ordo:Orphanet_284790 , ordo:Orphanet_377788 , , . ordo:Orphanet_98057 a rdfs:Class ; rdfs:label "Rare tumor"@en ; rdfs:subClassOf ordo:Orphanet_250908 . ordo:Orphanet_91348 a rdfs:Class ; rdfs:label "Functioning gonadotropic adenoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_206662 a rdfs:Class ; rdfs:label "Inclusion myopathy" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_206656 . ordo:Orphanet_93672 a rdfs:Class ; rdfs:label "Juvenile dermatomyositis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_761 a rdfs:Class ; rdfs:label "Immunoglobulin A vasculitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_256 a rdfs:Class ; rdfs:label "Early-onset generalized limb-onset dystonia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "congenital nervous system disorder" ; rdfs:comment "An abnormality of the nervous system that is present at birth or detected in the neonatal period." ; rdfs:subClassOf . ordo:Orphanet_276603 a rdfs:Class ; rdfs:label "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79298 , . ordo:Orphanet_544 a rdfs:Class ; rdfs:label "Diffuse large B-cell lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_300846 . a rdfs:Class ; rdfs:label "monosomy" ; rdfs:comment "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number." ; rdfs:subClassOf ordo:Orphanet_68335 . ordo:Orphanet_352649 a rdfs:Class ; rdfs:label "Brain dopamine-serotonin vesicular transport disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_391711 , ordo:Orphanet_79169 . ordo:Orphanet_306695 a rdfs:Class ; rdfs:label "Miscellaneous movement disorder due to neurodegenerative disease"@en ; rdfs:subClassOf ordo:Orphanet_102003 . a rdfs:Class ; rdfs:label "primary avascular necrosis" ; rdfs:subClassOf . ordo:Orphanet_171895 a rdfs:Class ; rdfs:label "Myeloid hemopathy"@en ; rdfs:subClassOf ordo:Orphanet_68347 . ordo:Orphanet_211240 a rdfs:Class ; rdfs:label "Genetic vascular anomaly" ; rdfs:comment "An instance of vascular anomaly that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183530 , , . a rdfs:Class ; rdfs:label "male reproductive organ cancer" ; rdfs:comment "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." ; rdfs:subClassOf , , . ordo:Orphanet_85138 a rdfs:Class ; rdfs:label "Addison disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98257 a rdfs:Class ; rdfs:label "Neonatal epilepsy syndrome" ; rdfs:subClassOf ordo:Orphanet_166463 . a rdfs:Class ; rdfs:label "acquired peripheral neuropathy" ; rdfs:comment "An instance of peripheral neuropathy that is acquired during the lifetime of the individual." ; rdfs:subClassOf . ordo:Orphanet_321 a rdfs:Class ; rdfs:label "Multiple osteochondromas" ; rdfs:comment "Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_183527 , ordo:Orphanet_309450 , ordo:Orphanet_371195 , ordo:Orphanet_377788 , ordo:Orphanet_93450 , . ordo:Orphanet_400025 a rdfs:Class ; rdfs:label "Female infertility due to an implantation defect of genetic origin" ; rdfs:subClassOf ordo:Orphanet_400008 , . ordo:Orphanet_140286 a rdfs:Class ; rdfs:label "Secondary hypoparathyroidism due to impaired parathormon secretion"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_156638 a rdfs:Class ; rdfs:label "Rare genetic endocrine disease" ; rdfs:subClassOf ordo:Orphanet_98053 , , . ordo:Orphanet_656 a rdfs:Class ; rdfs:label "Familial idiopathic steroid-resistant nephrotic syndrome" ; rdfs:comment "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." ; rdfs:subClassOf ordo:Orphanet_377788 , , . ordo:Orphanet_171 a rdfs:Class ; rdfs:label "Primary sclerosing cholangitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_35708 a rdfs:Class ; rdfs:label "Aromatic L-amino acid decarboxylase deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_309830 , ordo:Orphanet_377788 , ordo:Orphanet_68385 . a rdfs:Class ; rdfs:label "renal agenesis (disease)" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_357506 . a rdfs:Class ; rdfs:label "hypercalcemia, infantile" ; rdfs:comment "A hypercalcemia disease that occurs between 28 days to one year of life.." ; rdfs:subClassOf . ordo:Orphanet_261811 a rdfs:Class ; rdfs:label "Partial deletion of chromosome 10" ; rdfs:subClassOf ordo:Orphanet_98142 . ordo:Orphanet_848 a rdfs:Class ; rdfs:label "Beta-thalassemia" ; rdfs:comment "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." ; rdfs:subClassOf ordo:Orphanet_275749 , ordo:Orphanet_377788 , ordo:Orphanet_93614 , . ordo:Orphanet_86846 a rdfs:Class ; rdfs:label "Therapy related acute myeloid leukemia and myelodysplastic syndrome"@en ; rdfs:subClassOf ordo:Orphanet_519 . a rdfs:Class ; rdfs:label "Husband" ; rdfs:comment "A male partner in marriage." ; rdfs:subClassOf . ordo:Orphanet_298644 a rdfs:Class ; rdfs:label "Disorder of thiamine metabolism and transport" ; rdfs:subClassOf ordo:Orphanet_309827 , . ordo:Orphanet_522536 a rdfs:Class ; rdfs:label "Structural developmental eye defect of genetic origin"@en ; rdfs:subClassOf ordo:Orphanet_183557 , ordo:Orphanet_522504 . a rdfs:Class ; rdfs:label "disease by anatomical system" ; rdfs:comment "A disease that disrupts the functioning of an organ system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "continent" ; rdfs:subClassOf . ordo:Orphanet_98717 a rdfs:Class ; rdfs:label "Transposition of the great arteries and conotruncal cardiac anomaly"@en ; rdfs:subClassOf ordo:Orphanet_88991 . ordo:Orphanet_168558 a rdfs:Class ; rdfs:label "46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101960 , ordo:Orphanet_377788 , ordo:Orphanet_90786 . a rdfs:Class ; rdfs:label "non-Langerhans cell histiocytosis" ; rdfs:comment "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)." ; rdfs:subClassOf , . ordo:Orphanet_183444 a rdfs:Class ; rdfs:label "Genetic porokeratosis" ; rdfs:subClassOf ordo:Orphanet_183426 . a rdfs:Class ; rdfs:label "secondary interstitial lung disease specific to childhood associated with a systemic disease" ; rdfs:subClassOf . ordo:Orphanet_2495 a rdfs:Class ; rdfs:label "Meningioma" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "Sites of Care Delivery" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_464343 a rdfs:Class ; rdfs:label "Catastrophic antiphospholipid syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "transposition of the great arteries and conotruncal cardiac anomaly" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "metaphyseal dysplasia" ; rdfs:comment "An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "autoimmune disease of central nervous system" ; rdfs:comment "A hypersensitivity reaction type II disease that involves the central nervous system." ; rdfs:subClassOf , . ordo:Orphanet_271841 a rdfs:Class ; rdfs:label "Genetic cardiac tumor" ; rdfs:comment "An instance of heart cancer that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_68336 , . ordo:Orphanet_98610 a rdfs:Class ; rdfs:label "Rare conjunctival disease" ; rdfs:subClassOf ordo:Orphanet_183598 . a rdfs:Class ; rdfs:label "genetic lethal multiple congenital anomalies/dysmorphic syndrome" ; rdfs:comment "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf , ordo:Orphanet_183533 . ordo:Orphanet_183570 a rdfs:Class ; rdfs:label "Genetic malformation syndrome with short stature" ; rdfs:subClassOf ordo:Orphanet_183530 , . ordo:Orphanet_108969 a rdfs:Class ; rdfs:label "Syndromic intestinal malformation" ; rdfs:comment "A intestinal malformation that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_97945 , . a rdfs:Class ; rdfs:label "steroid metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of steroid metabolic process." ; rdfs:subClassOf . ordo:Orphanet_331176 a rdfs:Class ; rdfs:label "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "choroiditis" ; rdfs:comment "An inflammatory process that affects the choroid." ; rdfs:subClassOf , , . ordo:Orphanet_168598 a rdfs:Class ; rdfs:label "Brain demyelination due to methionine adenosyltransferase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , ordo:Orphanet_79173 . a rdfs:Class ; rdfs:label "Allied Health Profession" ; rdfs:comment "Professional health-care providers who are not physicians, especially medical assistants, technicians, and therapists but not nurses. (dictionary.com)" ; rdfs:subClassOf . ordo:Orphanet_477831 a rdfs:Class ; rdfs:label "Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377789 . ordo:Orphanet_167848 a rdfs:Class ; rdfs:label "Rare cardiomyopathy"@en ; rdfs:subClassOf ordo:Orphanet_97929 . ordo:Orphanet_10 a rdfs:Class ; rdfs:label "48,XXYY syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_165707 , ordo:Orphanet_263749 , ordo:Orphanet_325546 , ordo:Orphanet_377789 , ordo:Orphanet_71859 , , . ordo:Orphanet_2485 a rdfs:Class ; rdfs:label "Melorheostosis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_2781 , ordo:Orphanet_377789 . a rdfs:Class ; rdfs:label "Head Circumference" ; rdfs:comment "A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows." ; rdfs:subClassOf . ordo:Orphanet_244305 a rdfs:Class ; rdfs:label "Dominant hypophosphatemia with nephrolithiasis or osteoporosis" ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , ordo:Orphanet_93447 , . a rdfs:Class ; rdfs:label "bone disease" ; rdfs:comment "Diseases of BONES." ; rdfs:subClassOf , . ordo:Orphanet_282 a rdfs:Class ; rdfs:label "Frontotemporal dementia" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_276061 . ordo:Orphanet_486955 a rdfs:Class ; rdfs:label "Rare pediatric rheumatologic disease"@en ; rdfs:subClassOf ordo:Orphanet_280342 . a rdfs:Class ; rdfs:label "metabolic disease" ; rdfs:comment "A disease that involving errors in metabolic processes." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "pulmonary alveolar proteinosis" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_747 a rdfs:Class ; rdfs:label "Autoimmune pulmonary alveolar proteinosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "primary aldosteronism" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_179006 a rdfs:Class ; rdfs:label "Primary immunodeficiency due to a defect in adaptive immunity" ; rdfs:subClassOf ordo:Orphanet_101997 , . ordo:Orphanet_371 a rdfs:Class ; rdfs:label "Glycogen storage disease due to muscle phosphofructokinase deficiency" ; rdfs:subClassOf ordo:Orphanet_206959 , ordo:Orphanet_377788 , ordo:Orphanet_79201 , ordo:Orphanet_98372 . ordo:Orphanet_733 a rdfs:Class ; rdfs:label "Familial adenomatous polyposis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_79443 a rdfs:Class ; rdfs:label "Pseudohypoparathyroidism type 1A" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_665 . ordo:Orphanet_98095 a rdfs:Class ; rdfs:label "Autosomal recessive congenital cerebellar ataxia" ; rdfs:subClassOf ordo:Orphanet_1172 . ordo:Orphanet_905 a rdfs:Class ; rdfs:label "Wilson disease" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_207018 , ordo:Orphanet_309839 , ordo:Orphanet_370106 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_93593 , ordo:Orphanet_98687 , ordo:Orphanet_98711 , ordo:Orphanet_98712 , , , . ordo:Orphanet_261956 a rdfs:Class ; rdfs:label "Partial deletion of the short arm of chromosome 16" ; rdfs:subClassOf ordo:Orphanet_261826 . ordo:Orphanet_79354 a rdfs:Class ; rdfs:label "Ichthyosis"@en ; rdfs:subClassOf ordo:Orphanet_79353 . ordo:Orphanet_86852 a rdfs:Class ; rdfs:label "B-cell prolymphocytic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_1666 a rdfs:Class ; rdfs:label "Dextrocardia"@en ; rdfs:subClassOf ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "quality" ; rdfs:comment "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" ; rdfs:subClassOf . ordo:Orphanet_1987 a rdfs:Class ; rdfs:label "Femoral agenesis/hypoplasia" ; rdfs:comment "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93457 . a rdfs:Class ; rdfs:label "Answer" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "neoplastic syndrome" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_2032 a rdfs:Class ; rdfs:label "Idiopathic pulmonary fibrosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_826 a rdfs:Class ; rdfs:label "Sporotrichosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_68380 a rdfs:Class ; rdfs:label "Mitochondrial disease" ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_79200 , . ordo:Orphanet_68356 a rdfs:Class ; rdfs:label "Leukodystrophy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_71859 . a rdfs:Class ; rdfs:label "ovarian neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , , . ordo:Orphanet_458844 a rdfs:Class ; rdfs:label "Rare vascular malformation of major vessels"@en ; rdfs:subClassOf ordo:Orphanet_68419 . ordo:Orphanet_97935 a rdfs:Class ; rdfs:label "Rare gastroenterologic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_26 a rdfs:Class ; rdfs:label "Methylmalonic acidemia with homocystinuria" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79163 , ordo:Orphanet_79171 , ordo:Orphanet_98396 , , . ordo:Orphanet_946 a rdfs:Class ; rdfs:label "Acrocephalosyndactyly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139393 , ordo:Orphanet_93459 . a rdfs:Class ; rdfs:label "Medical Occupation" ; rdfs:comment "Occupations within the field of medicine." ; rdfs:subClassOf . ordo:Orphanet_494457 a rdfs:Class ; rdfs:label "Rare hyperkinetic movement disorder"@en ; rdfs:subClassOf ordo:Orphanet_102003 . a rdfs:Class ; rdfs:label "BIOGEN Biobank" ; rdfs:subClassOf . ordo:Orphanet_208650 a rdfs:Class ; rdfs:label "Cryopyrin-associated periodic syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_290839 , ordo:Orphanet_324924 , . a rdfs:Class ; rdfs:label "pigmentation disease" ; rdfs:comment "a group of diseases affecting the color of skin" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "lymphoid system disease" ; rdfs:comment "A disease or disorder that involves the lymphoid system." ; rdfs:subClassOf . ordo:Orphanet_3380 a rdfs:Class ; rdfs:label "Trisomy 18" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_98131 , ordo:Orphanet_98596 , ordo:Orphanet_98600 , , . ordo:Orphanet_71211 a rdfs:Class ; rdfs:label "Neuromyelitis optica"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_522528 a rdfs:Class ; rdfs:label "Rare genetic eyelid malposition disorder"@en ; rdfs:subClassOf ordo:Orphanet_522526 . a rdfs:Class ; rdfs:label "complement deficiency" ; rdfs:comment "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." ; rdfs:subClassOf , ordo:Orphanet_101992 , ordo:Orphanet_68367 . ordo:Orphanet_3453 a rdfs:Class ; rdfs:label "Autoimmune polyendocrinopathy type 1" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101960 , ordo:Orphanet_169355 , ordo:Orphanet_183643 , ordo:Orphanet_208593 , ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "Biological" ; rdfs:comment "Pertaining to biology or to life and living things." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "chronic pancreatitis" ; rdfs:comment "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." ; rdfs:subClassOf , . ordo:Orphanet_309450 a rdfs:Class ; rdfs:label "Disorder of O-xylosylglycan synthesis" ; rdfs:subClassOf ordo:Orphanet_309447 . ordo:Orphanet_141229 a rdfs:Class ; rdfs:label "Facial cleft"@en ; rdfs:subClassOf ordo:Orphanet_155832 , ordo:Orphanet_68329 . ordo:Orphanet_519311 a rdfs:Class ; rdfs:label "Rare disorder of the posterior segment of the eye"@en ; rdfs:subClassOf ordo:Orphanet_520814 . a rdfs:Class ; rdfs:label "hemorrhagic disorder due to a coagulation factors defect" ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "familial tumoral calcinosis" ; rdfs:comment "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:subClassOf ordo:Orphanet_53715 . a rdfs:Class ; rdfs:label "Nephew" ; rdfs:comment "A son of your brother or sister." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "cerebellar degeneration" ; rdfs:comment "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." ; rdfs:seeAlso ; rdfs:subClassOf , . ordo:Orphanet_2856 a rdfs:Class ; rdfs:label "Persistent Müllerian duct syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_325713 , ordo:Orphanet_377789 , ordo:Orphanet_400003 , , . a rdfs:Class ; rdfs:label "primary interstitial lung disease specific to childhood due to alveolar structure disorder" ; rdfs:subClassOf . ordo:Orphanet_181437 a rdfs:Class ; rdfs:label "Rare syndromic dyslipidemia" ; rdfs:comment "A inherited lipid metabolism disorder that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_101953 , . a rdfs:Class ; rdfs:label "Northern Europe" . ordo:Orphanet_61 a rdfs:Class ; rdfs:label "Alpha-mannosidosis" ; rdfs:comment "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_217581 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79215 , ordo:Orphanet_93448 , ordo:Orphanet_98644 , ordo:Orphanet_98711 , ordo:Orphanet_98712 , , . a rdfs:Class ; rdfs:label "head and neck malignant neoplasia" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "disorder by anatomical region" ; rdfs:comment "A broad grouping of diseases based on major body subdivisions." ; rdfs:subClassOf . ordo:Orphanet_101987 a rdfs:Class ; rdfs:label "Constitutional neutropenia" ; rdfs:comment "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." ; rdfs:subClassOf ordo:Orphanet_101985 , , , . ordo:Orphanet_98196 a rdfs:Class ; rdfs:label "Malformation syndrome with hamartosis" ; rdfs:subClassOf ordo:Orphanet_183530 , ordo:Orphanet_93890 , . ordo:Orphanet_31824 a rdfs:Class ; rdfs:label "Colchicine poisoning"@en ; rdfs:subClassOf ordo:Orphanet_377793 . ordo:Orphanet_325665 a rdfs:Class ; rdfs:label "Genetic disorder of sex development of gynecological interest" ; rdfs:subClassOf ordo:Orphanet_183731 , . ordo:Orphanet_235936 a rdfs:Class ; rdfs:label "Familial hyperaldosteronism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183637 , ordo:Orphanet_231641 , , . ordo:Orphanet_678 a rdfs:Class ; rdfs:label "Papillon-Lefèvre syndrome" ; rdfs:comment "Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_183580 , ordo:Orphanet_183681 , ordo:Orphanet_307804 , ordo:Orphanet_309340 , ordo:Orphanet_377788 , ordo:Orphanet_77830 , ordo:Orphanet_79373 , . a rdfs:Class ; rdfs:label "colorectal neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_98609 a rdfs:Class ; rdfs:label "EEC syndrome and related syndrome" ; rdfs:comment "Editor note: check this" ; rdfs:subClassOf ordo:Orphanet_79373 , ordo:Orphanet_98608 . ordo:Orphanet_377789 a rdfs:Class ; rdfs:label "malformation syndrome"@en ; rdfs:subClassOf ordo:Orphanet_C001 . a rdfs:Class ; rdfs:label "Biological Process" ; rdfs:comment "An activity occurring within an organism, between organisms or among organisms and the mechanisms underlying such events." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "non-severe combined immunodeficiency" ; rdfs:subClassOf ordo:Orphanet_101972 . a rdfs:Class ; rdfs:label "nutritional deficiency disease" ; rdfs:comment "Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "pancreas disease" ; rdfs:comment "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 ]" ; rdfs:subClassOf , . ordo:Orphanet_264757 a rdfs:Class ; rdfs:label "Interstitial lung disease in childhood and adulthood"@en ; rdfs:subClassOf ordo:Orphanet_182095 . ordo:Orphanet_98700 a rdfs:Class ; rdfs:label "Pigmentation disorder with eye involvement" ; rdfs:subClassOf ordo:Orphanet_98696 . ordo:Orphanet_93101 a rdfs:Class ; rdfs:label "Renal hypoplasia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_357506 , ordo:Orphanet_377791 . a rdfs:Class ; rdfs:label "Albania" . ordo:Orphanet_289891 a rdfs:Class ; rdfs:label "Hypermethioninemia due to glycine N-methyltransferase deficiency" ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79173 . ordo:Orphanet_2323 a rdfs:Class ; rdfs:label "Sanjad-Sakati syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_181402 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , , , . ordo:Orphanet_73217 a rdfs:Class ; rdfs:label "Müllerian aplasia" ; rdfs:subClassOf ordo:Orphanet_156622 , ordo:Orphanet_180065 , ordo:Orphanet_183731 , . ordo:Orphanet_93929 a rdfs:Class ; rdfs:label "Cloacal exstrophy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_165707 , ordo:Orphanet_322 , ordo:Orphanet_377796 , ordo:Orphanet_557 , ordo:Orphanet_93547 , . ordo:Orphanet_98586 a rdfs:Class ; rdfs:label "Pigmented palpebral tumor" ; rdfs:subClassOf ordo:Orphanet_98580 , , . a rdfs:Class ; rdfs:label "Finland" . ordo:Orphanet_363189 a rdfs:Class ; rdfs:label "Congenital anomaly of the great veins"@en ; rdfs:subClassOf ordo:Orphanet_458844 , ordo:Orphanet_88991 . a rdfs:Class ; rdfs:label "secondary interstitial lung disease specific to childhood associated with a metabolic disease" ; rdfs:subClassOf . ordo:Orphanet_98895 a rdfs:Class ; rdfs:label "Becker muscular dystrophy" ; rdfs:comment "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_262 , ordo:Orphanet_377788 , . ordo:Orphanet_86875 a rdfs:Class ; rdfs:label "Adult T-cell leukemia/lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_498467 a rdfs:Class ; rdfs:label "Non-syndromic postaxial polydactyly"@en ; rdfs:subClassOf ordo:Orphanet_2913 . a rdfs:Class ; rdfs:label "endocrine neoplasm" ; rdfs:comment "Tumors or cancer of the ENDOCRINE GLANDS." ; rdfs:subClassOf , . ordo:Orphanet_2382 a rdfs:Class ; rdfs:label "Lennox-Gastaut syndrome" ; rdfs:comment "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98259 , , . a rdfs:Class ; rdfs:label "neurodegenerative disease with dementia" ; rdfs:subClassOf , . ordo:Orphanet_3337 a rdfs:Class ; rdfs:label "Primary Fanconi syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "Biological Grandfather" ; rdfs:comment "A male relative who is the biological father of either the biological mother or the biological father." ; rdfs:subClassOf , . ordo:Orphanet_2137 a rdfs:Class ; rdfs:label "Autoimmune hepatitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_180257 a rdfs:Class ; rdfs:label "Rare malignant breast tumor"@en ; rdfs:subClassOf ordo:Orphanet_180250 . a rdfs:Class ; rdfs:label "simple vascular malformation" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Cystic Kidney Disease" ; rdfs:comment "A congenital or acquired kidney disorder characterized by the presence of renal cysts." ; rdfs:subClassOf . ordo:Orphanet_2774 a rdfs:Class ; rdfs:label "Multicentric carpo-tarsal osteolysis with or without nephropathy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93449 , ordo:Orphanet_93547 . ordo:Orphanet_1928 a rdfs:Class ; rdfs:label "Congenital lobar emphysema" ; rdfs:comment "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." ; rdfs:subClassOf ordo:Orphanet_108993 , ordo:Orphanet_183622 , ordo:Orphanet_377791 , . ordo:Orphanet_1202 a rdfs:Class ; rdfs:label "Larynx atresia" ; rdfs:comment "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." ; rdfs:subClassOf ordo:Orphanet_156249 , ordo:Orphanet_377789 , . ordo:Orphanet_183643 a rdfs:Class ; rdfs:label "Genetic polyendocrinopathy" ; rdfs:subClassOf ordo:Orphanet_156638 . ordo:Orphanet_564 a rdfs:Class ; rdfs:label "Meckel syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_108973 , ordo:Orphanet_108987 , ordo:Orphanet_139039 , ordo:Orphanet_294959 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_93587 , ordo:Orphanet_98638 , ordo:Orphanet_98645 , ordo:Orphanet_98655 , , , . ordo:Orphanet_79214 a rdfs:Class ; rdfs:label "Disorder of biogenic amine metabolism and transport" ; rdfs:subClassOf ordo:Orphanet_68367 . ordo:Orphanet_263756 a rdfs:Class ; rdfs:label "Partial deletion of the long arm of chromosome X" ; rdfs:subClassOf ordo:Orphanet_263726 . ordo:Orphanet_306516 a rdfs:Class ; rdfs:label "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_34526 . ordo:Orphanet_98601 a rdfs:Class ; rdfs:label "Eyebrow/eyelashes pigmentation anomaly" ; rdfs:subClassOf ordo:Orphanet_98594 , , . ordo:Orphanet_275742 a rdfs:Class ; rdfs:label "Genetic infertility" ; rdfs:comment "Genetic infertility." ; rdfs:subClassOf ordo:Orphanet_98053 , , . ordo:Orphanet_271870 a rdfs:Class ; rdfs:label "Rare genetic systemic or rheumatologic disease" ; rdfs:comment "An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_98053 , , . ordo:Orphanet_1331 a rdfs:Class ; rdfs:label "Familial prostate cancer" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156619 , ordo:Orphanet_271844 , ordo:Orphanet_377788 , . ordo:Orphanet_37042 a rdfs:Class ; rdfs:label "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" ; rdfs:comment "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." ; rdfs:subClassOf ordo:Orphanet_169355 , ordo:Orphanet_183643 , ordo:Orphanet_363300 , ordo:Orphanet_377788 , , . ordo:Orphanet_79126 a rdfs:Class ; rdfs:label "Acute interstitial pneumonia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_331232 a rdfs:Class ; rdfs:label "Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells" ; rdfs:subClassOf ordo:Orphanet_101977 . ordo:Orphanet_178563 a rdfs:Class ; rdfs:label "Primary cutaneous B-cell lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_542 . a rdfs:Class ; rdfs:label "disease by cell type" ; rdfs:subClassOf . ordo:Orphanet_319 a rdfs:Class ; rdfs:label "Ewing sarcoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_983 a rdfs:Class ; rdfs:label "Testicular regression syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_325118 , ordo:Orphanet_377791 , ordo:Orphanet_98313 . ordo:Orphanet_2704 a rdfs:Class ; rdfs:label "Ochoa syndrome" ; rdfs:comment "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93547 , . ordo:Orphanet_289176 a rdfs:Class ; rdfs:label "Autosomal recessive hypophosphatemic rickets" ; rdfs:comment "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_437 , , . ordo:Orphanet_79452 a rdfs:Class ; rdfs:label "Milroy disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_211240 , ordo:Orphanet_77240 , ordo:Orphanet_98614 , . ordo:Orphanet_79387 a rdfs:Class ; rdfs:label "Metabolic disease with skin involvement" ; rdfs:subClassOf ordo:Orphanet_68346 , ordo:Orphanet_68367 , ordo:Orphanet_89826 , . a rdfs:Class ; rdfs:label "rare male fertility disorder with obstructive azoospermia" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_98608 a rdfs:Class ; rdfs:label "Anomaly of the secretory and excretory apparatus of the lacrimal system" ; rdfs:subClassOf ordo:Orphanet_98602 . ordo:Orphanet_90787 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to testicular steroidogenesis defect" ; rdfs:subClassOf ordo:Orphanet_325632 , ordo:Orphanet_90783 . a rdfs:Class ; rdfs:label "Mode of inheritance" ; rdfs:comment "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." ; rdfs:subClassOf . ordo:Orphanet_2578 a rdfs:Class ; rdfs:label "MURCS association" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_3109 , ordo:Orphanet_377796 . ordo:Orphanet_31825 a rdfs:Class ; rdfs:label "Methanol poisoning"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98587 a rdfs:Class ; rdfs:label "Palpebral lentiginosis" ; rdfs:comment "A lentigo that involves the skin of eyelid." ; rdfs:subClassOf ordo:Orphanet_98586 , , . ordo:Orphanet_217454 a rdfs:Class ; rdfs:label "Rare hereditary thrombophilia" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_248361 , ordo:Orphanet_399185 , . a rdfs:Class ; rdfs:label "inherited neuroendocrine tumor" ; rdfs:comment "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "continuant" ; rdfs:comment "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 ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Recruitment" ; rdfs:comment "The process of enrolling, enlisting, or adding individuals to a group." ; rdfs:subClassOf . ordo:Orphanet_108989 a rdfs:Class ; rdfs:label "Non-syndromic central nervous system malformation"@en ; rdfs:subClassOf ordo:Orphanet_98044 . ordo:Orphanet_54057 a rdfs:Class ; rdfs:label "Thrombotic thrombocytopenic purpura"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_661 a rdfs:Class ; rdfs:label "Ondine syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_71859 , , , . a rdfs:Class ; rdfs:label "Behavioral, Psychological or Informational Intervention" ; rdfs:comment "The use of behavioral conditioning, counseling, and/or education to prevent or treat disease." ; rdfs:subClassOf . ordo:Orphanet_2444 a rdfs:Class ; rdfs:label "Congenital pulmonary airway malformation"@en ; rdfs:subClassOf ordo:Orphanet_377789 . ordo:Orphanet_183521 a rdfs:Class ; rdfs:label "Rare genetic movement disorder" ; rdfs:subClassOf ordo:Orphanet_307061 . a rdfs:Class ; rdfs:label "pulmonary hypertension" ; rdfs:comment "Increased pressure within the pulmonary circulation due to lung or heart disorder." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "eyelid disease" ; rdfs:comment "A disease involving the eyelid." ; rdfs:subClassOf . ordo:Orphanet_275791 a rdfs:Class ; rdfs:label "Pulmonary arterial hypertension associated with another disease"@en ; rdfs:subClassOf ordo:Orphanet_182090 . ordo:Orphanet_2670 a rdfs:Class ; rdfs:label "Pierson syndrome" ; rdfs:comment "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_306507 , ordo:Orphanet_377789 , . ordo:Orphanet_221046 a rdfs:Class ; rdfs:label "Poikiloderma with neutropenia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_222628 , ordo:Orphanet_331184 , ordo:Orphanet_377788 . ordo:Orphanet_101954 a rdfs:Class ; rdfs:label "Rare adrenal disease"@en ; rdfs:subClassOf ordo:Orphanet_97978 . a rdfs:Class ; rdfs:label "X-linked cone-rod dystrophy" ; rdfs:comment "X-linked form of cone-rod dystrophy." ; rdfs:subClassOf , ordo:Orphanet_1872 . ordo:Orphanet_178548 a rdfs:Class ; rdfs:label "Indolent primary cutaneous T-cell lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_171901 . ordo:Orphanet_420179 a rdfs:Class ; rdfs:label "Malan overgrowth syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377789 . a rdfs:Class ; rdfs:label "hypogonadotropic hypogonadism" ; rdfs:comment "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." ; rdfs:subClassOf . ordo:Orphanet_319552 a rdfs:Class ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" ; rdfs:comment " infections." ; rdfs:subClassOf ordo:Orphanet_319535 , ordo:Orphanet_377788 . ordo:Orphanet_103 a rdfs:Class ; rdfs:label "Genetic optic atrophy" ; rdfs:comment "Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." ; rdfs:subClassOf ordo:Orphanet_98671 . a rdfs:Class ; rdfs:label "Biological Paternal Grandmother" ; rdfs:comment "A female relative who is the biological mother of the biological father." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "temporal measurement" ; rdfs:comment "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" ; rdfs:subClassOf . ordo:Orphanet_96182 a rdfs:Class ; rdfs:label "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_813 , ordo:Orphanet_98153 . ordo:Orphanet_309127 a rdfs:Class ; rdfs:label "3-hydroxyacyl-CoA dehydrogenase deficiency" ; rdfs:subClassOf ordo:Orphanet_309115 , . a rdfs:Class ; rdfs:label "infancy electroclinical syndrome" ; rdfs:comment "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." ; rdfs:subClassOf . ordo:Orphanet_827 a rdfs:Class ; rdfs:label "Stargardt disease" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_227786 , ordo:Orphanet_377788 , . ordo:Orphanet_276 a rdfs:Class ; rdfs:label "T-B+ severe combined immunodeficiency due to gamma chain deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_317416 , ordo:Orphanet_377788 . ordo:Orphanet_331190 a rdfs:Class ; rdfs:label "Immunodeficiency due to ficolin3 deficiency" ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "kidney disease" ; rdfs:comment "A disease involving the kidney." ; rdfs:subClassOf , . ordo:Orphanet_1199 a rdfs:Class ; rdfs:label "Esophageal atresia"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_264675 a rdfs:Class ; rdfs:label "Congenital pulmonary alveolar proteinosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_100049 , ordo:Orphanet_377788 , , . ordo:Orphanet_98154 a rdfs:Class ; rdfs:label "Uniparental disomy of paternal origin" ; rdfs:subClassOf ordo:Orphanet_98152 . ordo:Orphanet_436182 a rdfs:Class ; rdfs:label "Microcephalic primordial dwarfism-insulin resistance syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377789 . a rdfs:Class ; rdfs:label "thoracic disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_863 a rdfs:Class ; rdfs:label "Trichinellosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "PCD Registry" ; rdfs:comment "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:subClassOf . ordo:Orphanet_443095 a rdfs:Class ; rdfs:label "Hyperinsulinemic hypoglycaemia"@en ; rdfs:subClassOf ordo:Orphanet_97978 . a rdfs:Class ; rdfs:label "secondary avascular necrosis" ; rdfs:subClassOf . ordo:Orphanet_98049 a rdfs:Class ; rdfs:label "Rare female infertility"@en ; rdfs:subClassOf ordo:Orphanet_98047 . ordo:Orphanet_361 a rdfs:Class ; rdfs:label "Familial glucocorticoid deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101960 , ordo:Orphanet_377788 . ordo:Orphanet_85414 a rdfs:Class ; rdfs:label "Systemic-onset juvenile idiopathic arthritis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_331206 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to complete RAG1/2 deficiency" ; rdfs:subClassOf ordo:Orphanet_317419 , ordo:Orphanet_377788 . ordo:Orphanet_85447 a rdfs:Class ; rdfs:label "Familial amyloid polyneuropathy" ; rdfs:subClassOf ordo:Orphanet_207021 , ordo:Orphanet_271861 , ordo:Orphanet_377788 , . ordo:Orphanet_35705 a rdfs:Class ; rdfs:label "Neurometabolic disorder due to serine deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_68385 , ordo:Orphanet_79158 , . a rdfs:Class ; rdfs:label "hypochromic anemia (disease)" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_280342 a rdfs:Class ; rdfs:label "Rare systemic or rheumatological disease of childhood"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_893 a rdfs:Class ; rdfs:label "WAGR syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183422 , ordo:Orphanet_183595 , ordo:Orphanet_240371 , ordo:Orphanet_261947 , ordo:Orphanet_319328 , ordo:Orphanet_325638 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_98087 , ordo:Orphanet_98557 , ordo:Orphanet_98638 , , , , . a rdfs:Class ; rdfs:label "neoplastic disease or syndrome" ; rdfs:comment "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." ; rdfs:subClassOf . ordo:Orphanet_225681 a rdfs:Class ; rdfs:label "Lysosomal disease with epilepsy"@en ; rdfs:subClassOf ordo:Orphanet_166481 . a rdfs:Class ; rdfs:label "rare genetic odontal or periodontal disorder" ; rdfs:comment "May be obsoleted. The semantics of the ORDO class are not clear" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_77830 . ordo:Orphanet_73263 a rdfs:Class ; rdfs:label "Zygomycosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_183734 a rdfs:Class ; rdfs:label "Genetic gynecological tumor" ; rdfs:subClassOf ordo:Orphanet_68336 , . ordo:Orphanet_522578 a rdfs:Class ; rdfs:label "Rare genetic disorder involving multiple structures of the eye"@en ; rdfs:subClassOf ordo:Orphanet_522504 . a rdfs:Class ; rdfs:label "DNA repair deficiency" ; rdfs:comment "A disease that has its basis in the disruption of DNA repair." ; rdfs:subClassOf ordo:Orphanet_68367 . a rdfs:Class ; rdfs:label "spinal cord disease" ; rdfs:comment "A disease involving the spinal cord." ; rdfs:subClassOf . ordo:Orphanet_220460 a rdfs:Class ; rdfs:label "Attenuated familial adenomatous polyposis" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_422 a rdfs:Class ; rdfs:label "Idiopathic and/or familial pulmonary arterial hypertension" ; rdfs:comment "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 ." ; rdfs:subClassOf ordo:Orphanet_156610 , ordo:Orphanet_156629 , ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "Paternal Biological Grandparent" ; rdfs:comment "A relative who is the biological parent of the biological father." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "cranial malformation" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Half-sister with Father as Common Parent" ; rdfs:comment "A female sibling who shares the genetic makeup inherited from only the biological father." ; rdfs:subClassOf , . ordo:Orphanet_2073 a rdfs:Class ; rdfs:label "Narcolepsy type 1"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_183607 a rdfs:Class ; rdfs:label "Genetic lens and zonula anomaly" ; rdfs:subClassOf ordo:Orphanet_522538 . a rdfs:Class ; rdfs:label "brain disease" ; rdfs:comment "A disease affecting the brain or part of the brain." ; rdfs:subClassOf . ordo:Orphanet_849 a rdfs:Class ; rdfs:label "Glanzmann thrombasthenia" ; rdfs:comment "Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." ; rdfs:subClassOf ordo:Orphanet_275729 , ordo:Orphanet_377788 , . ordo:Orphanet_971 a rdfs:Class ; rdfs:label "Acrorenal syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_93547 . a rdfs:Class ; rdfs:label "hypogonadism" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "female reproductive system disease" ; rdfs:comment "A disease involving the female reproductive system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "neurofibromatosis" ; rdfs:comment "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." ; rdfs:subClassOf , , , ordo:Orphanet_140162 , ordo:Orphanet_71859 . a rdfs:Class ; rdfs:label "factor XIII deficiency" ; rdfs:comment "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "secondary interstitial lung disease in childhood and adulthood associated with a systemic disease" ; rdfs:subClassOf . ordo:Orphanet_217595 a rdfs:Class ; rdfs:label "Syndrome associated with hypertrophic cardiomyopathy" ; rdfs:subClassOf ordo:Orphanet_99739 , . ordo:Orphanet_98496 a rdfs:Class ; rdfs:label "Rare peripheral neuropathy"@en ; rdfs:subClassOf ordo:Orphanet_98006 . ordo:Orphanet_183654 a rdfs:Class ; rdfs:label "Rare genetic coagulation disorder" ; rdfs:comment "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." ; rdfs:subClassOf ordo:Orphanet_158300 , . a rdfs:Class ; rdfs:label "Communication Response" ; rdfs:comment "A statement (either spoken or written) that is made in reply to a question, request, criticism, or accusation." ; rdfs:subClassOf . ordo:Orphanet_125 a rdfs:Class ; rdfs:label "Bloom syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_183422 , ordo:Orphanet_183487 , ordo:Orphanet_183490 , ordo:Orphanet_183570 , ordo:Orphanet_322126 , ordo:Orphanet_377788 , ordo:Orphanet_98709 , , , , , . ordo:Orphanet_52430 a rdfs:Class ; rdfs:label "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206662 , ordo:Orphanet_282 , ordo:Orphanet_377788 , ordo:Orphanet_93450 , . ordo:Orphanet_2190 a rdfs:Class ; rdfs:label "Congenital hydronephrosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_357506 , ordo:Orphanet_377791 , . ordo:Orphanet_98456 a rdfs:Class ; rdfs:label "Dense granule disease" ; rdfs:subClassOf ordo:Orphanet_98454 , . ordo:Orphanet_317416 a rdfs:Class ; rdfs:label "T-B+ severe combined immunodeficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183660 . ordo:Orphanet_399994 a rdfs:Class ; rdfs:label "Rare male infertility due to adrenal disorder of genetic origin" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_399983 . ordo:Orphanet_77830 a rdfs:Class ; rdfs:label "Rare genetic odontologic disease" ; rdfs:seeAlso ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "acute disease" ; rdfs:comment "Disease having a short and relatively severe course." ; rdfs:subClassOf . ordo:Orphanet_99879 a rdfs:Class ; rdfs:label "Familial isolated hyperparathyroidism" ; rdfs:comment "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors." ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_2207 , ordo:Orphanet_377788 . ordo:Orphanet_183497 a rdfs:Class ; rdfs:label "Genetic neuromuscular disease" ; rdfs:subClassOf ordo:Orphanet_71859 , . ordo:Orphanet_2932 a rdfs:Class ; rdfs:label "Chronic inflammatory demyelinating polyneuropathy"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "catecholamine-producing tumor" ; rdfs:comment "Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)." ; rdfs:subClassOf , , , ordo:Orphanet_156629 , ordo:Orphanet_183595 . ordo:Orphanet_646 a rdfs:Class ; rdfs:label "Niemann-Pick disease type C" ; rdfs:comment "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment." ; rdfs:subClassOf ordo:Orphanet_166472 , ordo:Orphanet_183500 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_98666 , ordo:Orphanet_98687 , , , , , . ordo:Orphanet_231154 a rdfs:Class ; rdfs:label "Combined immunodeficiency T+ B+ due to partial RAG1 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_355 a rdfs:Class ; rdfs:label "Gaucher disease" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_217638 , ordo:Orphanet_377788 , ordo:Orphanet_79225 , ordo:Orphanet_98688 , ordo:Orphanet_98711 . ordo:Orphanet_96210 a rdfs:Class ; rdfs:label "Rare genetic deafness" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "quantitative and/or qualitative congenital phagocyte defect" ; rdfs:comment "Editor note: check how relates to phagocytosis terms" ; rdfs:subClassOf , ordo:Orphanet_101988 . ordo:Orphanet_352306 a rdfs:Class ; rdfs:label "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement" ; rdfs:subClassOf ordo:Orphanet_352301 . a rdfs:Class ; rdfs:label "Lithuania" . a rdfs:Class ; rdfs:label "iris disease" ; rdfs:comment "A disease involving the iris." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "interstitial lung disease" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "neuroaxonal dystrophy" ; rdfs:comment "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)" ; rdfs:subClassOf . ordo:Orphanet_423 a rdfs:Class ; rdfs:label "Malignant hyperthermia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_352298 , ordo:Orphanet_377788 , ordo:Orphanet_98497 , , . ordo:Orphanet_42738 a rdfs:Class ; rdfs:label "Severe congenital neutropenia" ; rdfs:subClassOf ordo:Orphanet_101987 . ordo:Orphanet_90340 a rdfs:Class ; rdfs:label "Blau syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183472 , ordo:Orphanet_271870 , ordo:Orphanet_290839 , ordo:Orphanet_377788 , , , , , , . ordo:Orphanet_79190 a rdfs:Class ; rdfs:label "Disorder of phenylalanin or tyrosine metabolism" ; rdfs:subClassOf ordo:Orphanet_79062 . ordo:Orphanet_104012 a rdfs:Class ; rdfs:label "Rare inflammatory bowel disease"@en ; rdfs:subClassOf ordo:Orphanet_117569 . a rdfs:Class ; rdfs:label "Sweden" . a rdfs:Class ; rdfs:label "endocrine pancreas disease" ; rdfs:comment "A disease involving the endocrine pancreas." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Number" ; rdfs:comment "A numeral or string of numerals expressing value, quantity, or identification." ; rdfs:subClassOf . ordo:Orphanet_542 a rdfs:Class ; rdfs:label "Primary cutaneous lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_279911 , ordo:Orphanet_79386 . a rdfs:Class ; rdfs:label "polyendocrinopathy" ; rdfs:subClassOf . ordo:Orphanet_180 a rdfs:Class ; rdfs:label "Choroideremia" ; rdfs:comment "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98662 , , , . ordo:Orphanet_592 a rdfs:Class ; rdfs:label "Macrophagic myofasciitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "myositis" ; rdfs:comment "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue." ; rdfs:subClassOf , , . ordo:Orphanet_269560 a rdfs:Class ; rdfs:label "Genetic cerebellar malformation" ; rdfs:subClassOf ordo:Orphanet_269557 . a rdfs:Class ; rdfs:label "degeneration of macula and posterior pole" ; rdfs:subClassOf . ordo:Orphanet_86900 a rdfs:Class ; rdfs:label "Interdigitating dendritic cell sarcoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_2668 a rdfs:Class ; rdfs:label "Nephropathy-deafness-hyperparathyroidism syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_90642 . a rdfs:Class ; rdfs:label "Finding by Site or System" ; rdfs:comment "A term that refers to the classification of a clinical or laboratory finding according to the anatomic site or system that is involved." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "systemic diseases with posterior uveitis" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hemorrhagic disorder due to a platelet anomaly" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_279911 a rdfs:Class ; rdfs:label "Primary organ-specific lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_223735 . ordo:Orphanet_166463 a rdfs:Class ; rdfs:label "Epilepsy syndrome" ; rdfs:subClassOf ordo:Orphanet_183512 , . ordo:Orphanet_395 a rdfs:Class ; rdfs:label "Homocystinuria due to methylene tetrahydrofolate reductase deficiency" ; rdfs:comment "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations." ; rdfs:subClassOf ordo:Orphanet_207018 , ordo:Orphanet_285657 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "congenital abnormality" ; rdfs:comment "Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "classic or attenuated familial adenomatous polyposis" ; rdfs:comment "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP." ; rdfs:subClassOf , ordo:Orphanet_363314 . a rdfs:Class ; rdfs:label "thrombophilia" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_98557 a rdfs:Class ; rdfs:label "Syndromic aniridia" ; rdfs:comment "A aniridia that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_77 , ordo:Orphanet_98641 . a rdfs:Class ; rdfs:label "hemolytic-uremic syndrome" ; rdfs:comment "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia." ; rdfs:subClassOf , . ordo:Orphanet_557 a rdfs:Class ; rdfs:label "Isolated anorectal malformation" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377791 , ordo:Orphanet_96346 . a rdfs:Class ; rdfs:label "vertebral column disease" ; rdfs:comment "A disease involving the vertebral column." ; rdfs:subClassOf . ordo:Orphanet_183494 a rdfs:Class ; rdfs:label "Genetic immune deficiency with skin involvement" ; rdfs:subClassOf ordo:Orphanet_68346 , , . a rdfs:Class ; rdfs:label "bone neoplasm" ; rdfs:comment "Tumors or cancer located in bone tissue or specific BONES." ; rdfs:subClassOf , . ordo:Orphanet_72 a rdfs:Class ; rdfs:label "Angelman syndrome" ; rdfs:comment "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." ; rdfs:subClassOf ordo:Orphanet_183763 , ordo:Orphanet_377789 , , , . a rdfs:Class ; rdfs:label "rare genetic vascular tumor" ; rdfs:comment "An instance of rare vascular tumor that is caused by a modification of the individual's genome." ; rdfs:seeAlso ; rdfs:subClassOf , ordo:Orphanet_211240 . ordo:Orphanet_36387 a rdfs:Class ; rdfs:label "Generalized epilepsy with febrile seizures-plus" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_309 , ordo:Orphanet_377788 , ordo:Orphanet_98258 , . a rdfs:Class ; rdfs:label "The PRES European Network of Registries for Autoinflammatory Diseases in Childhood (Eurofever)" ; rdfs:comment "International registry collecting information on the clinical presentation, outcome and response to treatment of patients affected by the major Autoinflammatory diseases" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hemiplegia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_304 a rdfs:Class ; rdfs:label "Epidermolysis bullosa simplex" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_79361 . a rdfs:Class ; rdfs:label "systemic disease" ; rdfs:comment "A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole." ; rdfs:subClassOf . ordo:Orphanet_2014 a rdfs:Class ; rdfs:label "Cleft palate"@en ; rdfs:subClassOf ordo:Orphanet_155832 , ordo:Orphanet_68329 . a rdfs:Class ; rdfs:label "hyperinsulinemic hypoglycemia, familial, 1" ; rdfs:comment "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." ; rdfs:subClassOf . ordo:Orphanet_398934 a rdfs:Class ; rdfs:label "Malignant epithelial tumor of ovary" ; rdfs:comment "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." ; rdfs:subClassOf , , . ordo:Orphanet_101997 a rdfs:Class ; rdfs:label "Primary immunodeficiency" ; rdfs:subClassOf ordo:Orphanet_183770 , ordo:Orphanet_98004 . a rdfs:Class ; rdfs:label "Clinical or Research Activity" ; rdfs:comment "Any specific activity undertaken during the course of a clinical study or research protocol." ; rdfs:subClassOf . ordo:Orphanet_183472 a rdfs:Class ; rdfs:label "Genetic dermis disorder" ; rdfs:subClassOf ordo:Orphanet_68346 . a rdfs:Class ; rdfs:label "genetic endocrine growth disease" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Dietitian" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_93426 a rdfs:Class ; rdfs:label "Short rib dysplasia" ; rdfs:subClassOf ordo:Orphanet_364526 . ordo:Orphanet_371183 a rdfs:Class ; rdfs:label "Congenital disorder of glycosylation with cardiac malformation as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156532 , ordo:Orphanet_371235 . ordo:Orphanet_1048 a rdfs:Class ; rdfs:label "Isolated anencephaly/exencephaly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_183763 , ordo:Orphanet_268357 , ordo:Orphanet_377791 , , . a rdfs:Class ; rdfs:label "energy metabolism disorder with epilepsy" ; rdfs:subClassOf , ordo:Orphanet_71859 , ordo:Orphanet_79200 . ordo:Orphanet_94086 a rdfs:Class ; rdfs:label "Blue diaper syndrome" ; rdfs:comment "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79166 . a rdfs:Class ; rdfs:label "disease of genitourinary system" ; rdfs:comment "A disease that involves the genitourinary system. [database_cross_reference: MONDO:patterns/location]" ; rdfs:subClassOf . ordo:Orphanet_498485 a rdfs:Class ; rdfs:label "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377789 . ordo:Orphanet_2185 a rdfs:Class ; rdfs:label "Congenital hydrocephalus" ; rdfs:comment "Hydrocephalus that is present at birth." ; rdfs:subClassOf ordo:Orphanet_269550 , . a rdfs:Class ; rdfs:label "connective tissue disease" ; rdfs:comment "A disease involving the connective tissue." ; rdfs:subClassOf . ordo:Orphanet_306633 a rdfs:Class ; rdfs:label "Rare tumor of gallbladder and extrahepatic biliary tract"@en ; rdfs:subClassOf ordo:Orphanet_101943 . ordo:Orphanet_3388 a rdfs:Class ; rdfs:label "Neural tube defect" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_108989 , ordo:Orphanet_269550 . ordo:Orphanet_208593 a rdfs:Class ; rdfs:label "Genetic hypoparathyroidism" ; rdfs:comment "Genetic hypoparathyroidism." ; rdfs:subClassOf ordo:Orphanet_183634 , . ordo:Orphanet_98472 a rdfs:Class ; rdfs:label "Skeletal muscle disease"@en ; rdfs:subClassOf ordo:Orphanet_68381 . ordo:Orphanet_98539 a rdfs:Class ; rdfs:label "Early-onset ataxia with dementia" ; rdfs:subClassOf ordo:Orphanet_98538 . ordo:Orphanet_48818 a rdfs:Class ; rdfs:label "Aceruloplasminemia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_309842 , ordo:Orphanet_377788 , ordo:Orphanet_385 , ordo:Orphanet_71862 , ordo:Orphanet_98360 , ordo:Orphanet_98713 , . ordo:Orphanet_823 a rdfs:Class ; rdfs:label "Isolated spina bifida" ; rdfs:comment "A spina bifida (disease) that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_268357 , . ordo:Orphanet_319595 a rdfs:Class ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_319543 , ordo:Orphanet_377788 , ordo:Orphanet_391311 . ordo:Orphanet_89937 a rdfs:Class ; rdfs:label "Autosomal dominant hypophosphatemic rickets" ; rdfs:comment "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_437 , , . ordo:Orphanet_73229 a rdfs:Class ; rdfs:label "Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_93550 , . a rdfs:Class ; rdfs:label "nephritis" ; rdfs:comment "Inflammation of renal tissue." ; rdfs:subClassOf , . ordo:Orphanet_93583 a rdfs:Class ; rdfs:label "Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency" ; rdfs:subClassOf ordo:Orphanet_183589 , ordo:Orphanet_377796 . ordo:Orphanet_137 a rdfs:Class ; rdfs:label "Congenital disorder of glycosylation" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_79161 , . a rdfs:Class ; rdfs:label "Record" ; rdfs:comment "Anything (e.g., a document) providing permanent evidence of or information about past events." ; rdfs:subClassOf . ordo:Orphanet_244 a rdfs:Class ; rdfs:label "Primary ciliary dyskinesia" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_156610 , ordo:Orphanet_377788 , ordo:Orphanet_399813 , , , . a rdfs:Class ; rdfs:label "chromosomal anomaly with cataract" ; rdfs:subClassOf ordo:Orphanet_68335 , ordo:Orphanet_98641 . a rdfs:Class ; rdfs:label "age-related macular degeneration" ; rdfs:comment "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." ; rdfs:subClassOf . ordo:Orphanet_98687 a rdfs:Class ; rdfs:label "Supranuclear oculomotor palsy" ; rdfs:comment "oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." ; rdfs:subClassOf ordo:Orphanet_98685 . a rdfs:Class ; rdfs:label "cerebral small vessel disease" ; rdfs:comment "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." ; rdfs:subClassOf , ordo:Orphanet_183503 . ordo:Orphanet_101435 a rdfs:Class ; rdfs:label "Rare genetic eye disease" ; rdfs:subClassOf ordo:Orphanet_71859 , . ordo:Orphanet_269528 a rdfs:Class ; rdfs:label "Syndrome with microcephaly as major feature" ; rdfs:subClassOf ordo:Orphanet_269564 , . a rdfs:Class ; rdfs:label "Half Sibling" ; rdfs:comment "A sibling with whom you share a single parent." ; rdfs:subClassOf , . ordo:Orphanet_373 a rdfs:Class ; rdfs:label "Simpson-Golabi-Behmel syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_156207 , ordo:Orphanet_156237 , ordo:Orphanet_183422 , ordo:Orphanet_377789 , ordo:Orphanet_93460 , ordo:Orphanet_93547 , ordo:Orphanet_98464 , , , . ordo:Orphanet_93890 a rdfs:Class ; rdfs:label "Rare developmental defect during embryogenesis"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_3221 a rdfs:Class ; rdfs:label "Generalized resistance to thyroid hormone" ; rdfs:comment "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues." ; rdfs:subClassOf ordo:Orphanet_181399 , ordo:Orphanet_377788 , ordo:Orphanet_90642 , . ordo:Orphanet_182090 a rdfs:Class ; rdfs:label "Pulmonary arterial hypertension"@en ; rdfs:subClassOf ordo:Orphanet_71198 . ordo:Orphanet_206650 a rdfs:Class ; rdfs:label "Autosomal dominant distal myopathy" ; rdfs:comment "Autosomal dominant form of distal myopathy." ; rdfs:subClassOf ordo:Orphanet_599 , . ordo:Orphanet_309136 a rdfs:Class ; rdfs:label "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" ; rdfs:subClassOf ordo:Orphanet_2443 . ordo:Orphanet_131 a rdfs:Class ; rdfs:label "Budd-Chiari syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" ; rdfs:comment "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." ; rdfs:subClassOf , , , ordo:Orphanet_169361 . ordo:Orphanet_523 a rdfs:Class ; rdfs:label "Hereditary leiomyomatosis and renal cell cancer" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183487 , ordo:Orphanet_183595 , ordo:Orphanet_319328 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "location , period, or jurisdiction" ; rdfs:comment "A location, period of time, or jurisdiction." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare cause of hypertension" ; rdfs:seeAlso ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "bronchial disease" ; rdfs:comment "a respiratory system disease that has its manifestation in the bronchus" ; rdfs:subClassOf , . ordo:Orphanet_519315 a rdfs:Class ; rdfs:label "Rare retinal disorder"@en ; rdfs:subClassOf ordo:Orphanet_519311 . a rdfs:Class ; rdfs:label "breast neoplasm" ; rdfs:comment "Abnormal growth located in the breast or mammory gland." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "medullary thyroid gland carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "United Kingdom" . a rdfs:Class ; rdfs:label "Registry of Multiple Osteochondromas"@en ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_263708 a rdfs:Class ; rdfs:label "Complex chromosomal rearrangement" ; rdfs:subClassOf ordo:Orphanet_98127 . a rdfs:Class ; rdfs:label "Rett Networked Database" ; rdfs:comment "Collect standardized clinical and genetic information about patients affected by Rett spectrum disorders, irrespective of the mutated gene." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "infectious encephalitis" ; rdfs:comment "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." ; rdfs:subClassOf . ordo:Orphanet_101958 a rdfs:Class ; rdfs:label "Primary adrenal insufficiency"@en ; rdfs:subClassOf ordo:Orphanet_101954 . a rdfs:Class ; rdfs:label "Central Nervous System Neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_2040 a rdfs:Class ; rdfs:label "Congenital bronchobiliary fistula"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_168 a rdfs:Class ; rdfs:label "Loose anagen syndrome" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_67037 a rdfs:Class ; rdfs:label "Squamous cell carcinoma of head and neck"@en ; rdfs:subClassOf ordo:ObsoleteClass . a rdfs:Class ; rdfs:label "inherited porphyria" ; rdfs:comment "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." ; rdfs:seeAlso ; rdfs:subClassOf , ordo:Orphanet_183490 , ordo:Orphanet_309813 , ordo:Orphanet_79387 , ordo:Orphanet_93593 . ordo:Orphanet_398069 a rdfs:Class ; rdfs:label "Prader-Willi syndrome due to point mutation" ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_739 . a rdfs:Class ; rdfs:label "Description" ; rdfs:comment "A written or verbal account, representation, statement, or explanation of something." ; rdfs:subClassOf . ordo:Orphanet_100932 a rdfs:Class ; rdfs:label "Nuclear oculomotor paralysis" ; rdfs:comment "Editor note: see notes for supranuclear" ; rdfs:subClassOf ordo:Orphanet_98685 . a rdfs:Class ; rdfs:label "upper respiratory tract disease" ; rdfs:comment "A disease involving the upper respiratory tract." ; rdfs:subClassOf . ordo:Orphanet_98568 a rdfs:Class ; rdfs:label "Congenital entropion" ; rdfs:subClassOf ordo:Orphanet_98567 , . ordo:Orphanet_101150 a rdfs:Class ; rdfs:label "Autosomal recessive dopa-responsive dystonia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_255 , ordo:Orphanet_284818 , ordo:Orphanet_377788 , ordo:Orphanet_79158 , , . a rdfs:Class ; rdfs:label "viral encephalitis" ; rdfs:comment "Encephalitis resulting from viral infection." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:comment "A EJP data catalog is a curated collection of metadata about EJP-RD datasets." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hereditary ataxia" ; rdfs:comment "Cerebellar ataxia that is transmitted from parent to child." ; rdfs:seeAlso ; rdfs:subClassOf , ordo:Orphanet_183500 . a rdfs:Class ; rdfs:label "corneal disease" ; rdfs:comment "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [ NCIT ]" ; rdfs:subClassOf , . ordo:Orphanet_98203 a rdfs:Class ; rdfs:label "Combined dystonia" ; rdfs:comment "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." ; rdfs:subClassOf ordo:Orphanet_391799 , ordo:Orphanet_68363 . a rdfs:Class ; rdfs:label "primary pulmonary hypertension" ; rdfs:comment "Increased blood pressure in the arteries of the lungs; the etiology is unknown." ; rdfs:subClassOf . ordo:Orphanet_314689 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to STK4 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_399584 a rdfs:Class ; rdfs:label "Rare male infertility due to adrenal disorder"@en ; rdfs:subClassOf ordo:Orphanet_399572 . a rdfs:Class ; rdfs:label "benign peripheral nerve sheath tumor" ; rdfs:comment "Editor note: consider relationship to granular cell tumor" ; rdfs:subClassOf . ordo:Orphanet_309848 a rdfs:Class ; rdfs:label "Disorder of magnesium transport" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport." ; rdfs:subClassOf ordo:Orphanet_309836 . ordo:Orphanet_520 a rdfs:Class ; rdfs:label "Acute promyelocytic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Austria" . a rdfs:Class ; rdfs:label "palsy" ; rdfs:comment "various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare diabetes mellitus type 2" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_3162 a rdfs:Class ; rdfs:label "Sézary syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_2314 a rdfs:Class ; rdfs:label "Autosomal dominant hyper-IgE syndrome" ; rdfs:comment "2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183494 , ordo:Orphanet_331223 , ordo:Orphanet_377788 , . ordo:Orphanet_424936 a rdfs:Class ; rdfs:label "Carcinoma of liver and intrahepatic biliary tract"@en ; rdfs:subClassOf ordo:Orphanet_424933 . ordo:Orphanet_264955 a rdfs:Class ; rdfs:label "Langerhans cell histiocytosis in childhood and adulthood"@en ; rdfs:subClassOf ordo:Orphanet_264949 . ordo:Orphanet_522580 a rdfs:Class ; rdfs:label "Secondary early-onset glaucoma of genetic origin"@en ; rdfs:subClassOf ordo:Orphanet_359 . ordo:Orphanet_187 a rdfs:Class ; rdfs:label "Citrullinemia" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_79167 , . ordo:Orphanet_519268 a rdfs:Class ; rdfs:label "Rare disorder with ectropion"@en ; rdfs:subClassOf ordo:Orphanet_522528 , ordo:Orphanet_98567 . ordo:Orphanet_98644 a rdfs:Class ; rdfs:label "Cataract associated with a metabolic disease" ; rdfs:subClassOf ordo:Orphanet_522548 , ordo:Orphanet_98643 . ordo:Orphanet_206634 a rdfs:Class ; rdfs:label "Genetic skeletal muscle disease" ; rdfs:comment "A disease involving the skeletal muscle tissue." ; rdfs:subClassOf ordo:Orphanet_183497 , ordo:Orphanet_98472 , ordo:Orphanet_98497 , , . ordo:Orphanet_672 a rdfs:Class ; rdfs:label "Pallister-Hall syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_294959 , ordo:Orphanet_330197 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_95495 , . ordo:Orphanet_47159 a rdfs:Class ; rdfs:label "Proximal renal tubular acidosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_314822 , ordo:Orphanet_377788 , ordo:Orphanet_68367 , . ordo:Orphanet_50251 a rdfs:Class ; rdfs:label "Pleural mesothelioma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "syndromic constitutional thrombocytopenia" ; rdfs:subClassOf ordo:Orphanet_275729 . ordo:Orphanet_60032 a rdfs:Class ; rdfs:label "Recurrent respiratory papillomatosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "mouth mucosa disease" ; rdfs:comment "A disease or disorder that involves the mouth mucosa." ; rdfs:subClassOf . ordo:Orphanet_755 a rdfs:Class ; rdfs:label "Leydig cell hypoplasia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_325357 , ordo:Orphanet_377788 , ordo:Orphanet_399685 . ordo:Orphanet_164001 a rdfs:Class ; rdfs:label "Rare odontal or periodontal disorder" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_77830 , . a rdfs:Class ; rdfs:label "obesity" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Registry of Ehlers-Danlos Syndrome"@en ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_289103 a rdfs:Class ; rdfs:label "Hypocalcemic rickets" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_289098 , . ordo:Orphanet_83461 a rdfs:Class ; rdfs:label "Congenital primary aphakia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_88632 , . ordo:Orphanet_101936 a rdfs:Class ; rdfs:label "Rare gastroesophageal disease"@en ; rdfs:subClassOf ordo:Orphanet_97935 . ordo:Orphanet_171915 a rdfs:Class ; rdfs:label "B-cell non-Hodgkin lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_547 . ordo:Orphanet_261826 a rdfs:Class ; rdfs:label "Partial deletion of chromosome 16" ; rdfs:subClassOf ordo:Orphanet_98142 . ordo:Orphanet_90791 a rdfs:Class ; rdfs:label "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_418 , ordo:Orphanet_90776 , ordo:Orphanet_90786 , . ordo:Orphanet_506334 a rdfs:Class ; rdfs:label "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Code" ; rdfs:comment "A symbol or combination of symbols which is assigned to the members of a collection." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Event" ; rdfs:comment "Something that happens at a given place and time." ; rdfs:subClassOf . ordo:Orphanet_86897 a rdfs:Class ; rdfs:label "Langerhans cell sarcoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_799 a rdfs:Class ; rdfs:label "Schizencephaly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_166478 , ordo:Orphanet_269190 , ordo:Orphanet_377788 , . ordo:Orphanet_35 a rdfs:Class ; rdfs:label "Propionic acidemia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79163 . ordo:Orphanet_805 a rdfs:Class ; rdfs:label "Tuberous sclerosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_166466 , ordo:Orphanet_166472 , ordo:Orphanet_180772 , ordo:Orphanet_183422 , ordo:Orphanet_183481 , ordo:Orphanet_183500 , ordo:Orphanet_183595 , ordo:Orphanet_183763 , ordo:Orphanet_319328 , ordo:Orphanet_377788 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , ordo:Orphanet_93587 , ordo:Orphanet_98196 , ordo:Orphanet_98601 , ordo:Orphanet_98701 , , , , . ordo:Orphanet_77240 a rdfs:Class ; rdfs:label "Primary lymphedema" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_79383 , . ordo:Orphanet_209196 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of plectin" ; rdfs:subClassOf ordo:Orphanet_207049 . a rdfs:Class ; rdfs:label "steroid-resistant nephrotic syndrome" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_261791 a rdfs:Class ; rdfs:label "Partial deletion of chromosome 6" ; rdfs:subClassOf ordo:Orphanet_98142 . ordo:Orphanet_156610 a rdfs:Class ; rdfs:label "Rare genetic respiratory disease" ; rdfs:subClassOf ordo:Orphanet_98053 , , . a rdfs:Class ; rdfs:label "precancerous condition" ; rdfs:comment "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "brachydactyly (disease)" ; rdfs:comment "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." ; rdfs:subClassOf ordo:Orphanet_404571 . a rdfs:Class ; rdfs:label "abnormal erythrocyte morphology" ; rdfs:comment "Any structural abnormality of erythrocytes (red-blood cells)." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Birth Head Circumference" ; rdfs:comment "The measurement around a neonate's head at birth." ; rdfs:subClassOf . ordo:Orphanet_227535 a rdfs:Class ; rdfs:label "Hereditary breast cancer" ; rdfs:comment "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." ; rdfs:subClassOf ordo:Orphanet_183734 , ordo:Orphanet_377788 , . ordo:Orphanet_93459 a rdfs:Class ; rdfs:label "Syndrome with synostosis or other joint formation defect" ; rdfs:subClassOf ordo:Orphanet_404571 , ordo:Orphanet_404577 . ordo:Orphanet_363972 a rdfs:Class ; rdfs:label "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183422 , ordo:Orphanet_377789 , ordo:Orphanet_98733 . ordo:Orphanet_635 a rdfs:Class ; rdfs:label "Neuroblastoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "rare thrombotic disease of hematologic origin" ; rdfs:seeAlso ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "carbohydrate metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of carbohydrate metabolic process." ; rdfs:subClassOf . ordo:Orphanet_222628 a rdfs:Class ; rdfs:label "Hereditary poikiloderma" ; rdfs:subClassOf ordo:Orphanet_183426 , , . ordo:Orphanet_98622 a rdfs:Class ; rdfs:label "Syndromic hyperopia" ; rdfs:comment "A hyperopia that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_98621 , , . ordo:Orphanet_331217 a rdfs:Class ; rdfs:label "Other immunodeficiency syndrome due to defects in adaptive immunity" ; rdfs:subClassOf ordo:Orphanet_179006 . a rdfs:Class ; rdfs:label "Biological Maternal Cousin" ; rdfs:comment "A relative who is the offspring of a sibling of the biological mother and thus sharing a common ancestor." ; rdfs:subClassOf . ordo:Orphanet_399983 a rdfs:Class ; rdfs:label "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" ; rdfs:comment "An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_399980 , . a rdfs:Class ; rdfs:label "periodic fever syndrome" ; rdfs:comment "fevers of unknown etiology recurring over months or years." ; rdfs:subClassOf . ordo:Orphanet_98360 a rdfs:Class ; rdfs:label "Constitutional anemia due to iron metabolism disorder" ; rdfs:subClassOf ordo:Orphanet_248296 . ordo:Orphanet_860 a rdfs:Class ; rdfs:label "Congenitally uncorrected transposition of the great arteries" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_271853 , ordo:Orphanet_377791 , . a rdfs:Class ; rdfs:label "Intervention or Procedure" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_486 a rdfs:Class ; rdfs:label "Autosomal dominant severe congenital neutropenia" ; rdfs:comment "Autosomal dominant form of severe congenital neutropenia." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_42738 , . ordo:Orphanet_206656 a rdfs:Class ; rdfs:label "Non-dystrophic myopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206634 , . a rdfs:Class ; rdfs:label "French Pulmonary Hypertension Registry" ; rdfs:comment "Prospective registry of consecutive patients with different forms of pulmonary hypertension followed in the centers belonging to the French pulmonary hypertension network" ; rdfs:subClassOf . ordo:Orphanet_2947 a rdfs:Class ; rdfs:label "Triphalangeal thumbs - brachyectrodactyly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_294959 , ordo:Orphanet_377789 . ordo:Orphanet_79225 a rdfs:Class ; rdfs:label "Sphingolipidosis" ; rdfs:comment "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_79204 . ordo:Orphanet_398073 a rdfs:Class ; rdfs:label "Prader-Willi-like syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_181387 , ordo:Orphanet_240371 , ordo:Orphanet_330197 , ordo:Orphanet_377788 , ordo:Orphanet_399846 , , . ordo:Orphanet_325690 a rdfs:Class ; rdfs:label "Genetic disorder of sex development" ; rdfs:comment "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." ; rdfs:subClassOf ordo:Orphanet_156619 , ordo:Orphanet_156638 , ordo:Orphanet_183530 , , . a rdfs:Class ; rdfs:label "kidney neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_209886 a rdfs:Class ; rdfs:label "Familial juvenile hyperuricemic nephropathy type 1" ; rdfs:comment "Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79191 , ordo:Orphanet_93587 , . ordo:Orphanet_251558 a rdfs:Class ; rdfs:label "Rare tumor of neuroepithelial tissue"@en ; rdfs:subClassOf ordo:Orphanet_98062 . ordo:Orphanet_137617 a rdfs:Class ; rdfs:label "Nephrogenic systemic fibrosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98698 a rdfs:Class ; rdfs:label "Ichthyosis associated with ocular features" ; rdfs:subClassOf ordo:Orphanet_98697 . ordo:Orphanet_96193 a rdfs:Class ; rdfs:label "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11" ; rdfs:subClassOf ordo:Orphanet_116 , ordo:Orphanet_377795 , ordo:Orphanet_98154 , . a rdfs:Class ; rdfs:label "nervous system disease" ; rdfs:comment "a general class of medical conditions affecting the nervous system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Gender" ; rdfs:comment "The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes." ; rdfs:subClassOf . ordo:Orphanet_70591 a rdfs:Class ; rdfs:label "Chronic thromboembolic pulmonary hypertension"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "congenital fiber-type disproportion" ; rdfs:subClassOf ordo:Orphanet_97245 . ordo:Orphanet_906 a rdfs:Class ; rdfs:label "Wiskott-Aldrich syndrome" ; rdfs:comment "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101972 , ordo:Orphanet_183422 , ordo:Orphanet_183494 , ordo:Orphanet_331217 , ordo:Orphanet_377788 , ordo:Orphanet_98456 , , . a rdfs:Class ; rdfs:label "carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_377795 a rdfs:Class ; rdfs:label "etiological subtype"@en ; rdfs:subClassOf ordo:Orphanet_C001 . ordo:Orphanet_602 a rdfs:Class ; rdfs:label "Distal myopathy, Nonaka type" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206653 , ordo:Orphanet_206662 , ordo:Orphanet_209203 , ordo:Orphanet_309526 , ordo:Orphanet_371047 , ordo:Orphanet_377788 , , . ordo:Orphanet_275823 a rdfs:Class ; rdfs:label "Pulmonary arterial hypertension associated with schistosomiasis"@en ; rdfs:subClassOf ordo:Orphanet_275791 . ordo:Orphanet_3173 a rdfs:Class ; rdfs:label "Infantile spasms - broad thumbs" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98258 . ordo:Orphanet_32960 a rdfs:Class ; rdfs:label "Tumor necrosis factor receptor 1 associated periodic syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_290839 , ordo:Orphanet_324924 , ordo:Orphanet_377788 , . ordo:Orphanet_654 a rdfs:Class ; rdfs:label "Nephroblastoma" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183595 , ordo:Orphanet_377788 , , , . ordo:Orphanet_98873 a rdfs:Class ; rdfs:label "Congenital dyserythropoietic anemia type II" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_309526 , ordo:Orphanet_377788 , ordo:Orphanet_85 . a rdfs:Class ; rdfs:label "disease of supramolecular complex" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "impaired renal function disease" ; rdfs:comment "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "'Holy See'" . a rdfs:Class ; rdfs:label "Identifier (by type of data)" ; 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:subClassOf . a rdfs:Class ; rdfs:label "Clinical" ; rdfs:comment "Relating to the examination and treatment of patients dependent on direct observation. The term may also refer to the institution (clinic) providing this activity." ; rdfs:subClassOf . ordo:Orphanet_275749 a rdfs:Class ; rdfs:label "Beta-thalassemia and related diseases" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "infectious disease" ; rdfs:comment "A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_242 a rdfs:Class ; rdfs:label "46,XY complete gonadal dysgenesis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_217595 , ordo:Orphanet_325118 , ordo:Orphanet_377789 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , ordo:Orphanet_98074 , . ordo:Orphanet_34533 a rdfs:Class ; rdfs:label "Corneal dystrophy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101435 , . ordo:Orphanet_366 a rdfs:Class ; rdfs:label "Glycogen storage disease due to glycogen debranching enzyme deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206959 , ordo:Orphanet_217572 , ordo:Orphanet_377788 , ordo:Orphanet_79201 . ordo:Orphanet_100092 a rdfs:Class ; rdfs:label "Gastroenteropancreatic neuroendocrine neoplasm"@en ; rdfs:subClassOf ordo:Orphanet_877 . a rdfs:Class ; rdfs:label "renal tubular acidosis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf , , . ordo:Orphanet_2131 a rdfs:Class ; rdfs:label "Alternating hemiplegia of childhood" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_209978 , ordo:Orphanet_377788 . ordo:Orphanet_370106 a rdfs:Class ; rdfs:label "Rare disorder with dystonia and other neurologic or systemic manifestation" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_391799 . ordo:Orphanet_264656 a rdfs:Class ; rdfs:label "Interstitial lung disease specific to childhood"@en ; rdfs:subClassOf ordo:Orphanet_182095 . ordo:Orphanet_99749 a rdfs:Class ; rdfs:label "Kostmann syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_377788 , . ordo:Orphanet_207090 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of collagen 6" ; rdfs:subClassOf ordo:Orphanet_207049 , , . ordo:Orphanet_157215 a rdfs:Class ; rdfs:label "Hereditary hypophosphatemic rickets with hypercalciuria" ; rdfs:comment "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_437 , . ordo:Orphanet_553 a rdfs:Class ; rdfs:label "Cushing syndrome"@en ; rdfs:subClassOf ordo:Orphanet_101954 . ordo:Orphanet_97239 a rdfs:Class ; rdfs:label "Reducing body myopathy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_97245 . a rdfs:Class ; rdfs:label "disease by subcellular system affected" ; rdfs:comment "A grouping of diseases based on molecular activity, cellular process or subcellular component." ; rdfs:subClassOf . ordo:Orphanet_138063 a rdfs:Class ; rdfs:label "Syndrome associated with Pierre Robin syndrome" ; rdfs:subClassOf ordo:Orphanet_363294 . ordo:Orphanet_226316 a rdfs:Class ; rdfs:label "Genetic transient congenital hypothyroidism" ; rdfs:comment "An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_308998 a rdfs:Class ; rdfs:label "Disorder of glyoxylate metabolism" ; rdfs:subClassOf ordo:Orphanet_79161 . a rdfs:Class ; rdfs:label "Latvia" . ordo:Orphanet_2066 a rdfs:Class ; rdfs:label "Gamma-aminobutyric acid transaminase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_308407 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , , , . ordo:Orphanet_98655 a rdfs:Class ; rdfs:label "Lens shape anomaly" ; rdfs:subClassOf ordo:Orphanet_183607 . a rdfs:Class ; rdfs:label "ovarian epithelial tumor" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Half Brother" ; rdfs:comment "A male sibling with whom you share a single parent." ; rdfs:subClassOf , . ordo:Orphanet_217581 a rdfs:Class ; rdfs:label "Lysosomal disease with hypertrophic cardiomyopathy" ; rdfs:subClassOf ordo:Orphanet_68366 , ordo:Orphanet_99739 . a rdfs:Class ; rdfs:label "pituitary hormone deficiency secondary to storage disease" ; rdfs:comment "Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120" ; rdfs:subClassOf ordo:Orphanet_101957 . a rdfs:Class ; rdfs:label "ciliopathy" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_79134 a rdfs:Class ; rdfs:label "DEND syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_166463 , ordo:Orphanet_377788 , ordo:Orphanet_99885 . a rdfs:Class ; rdfs:label "age" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_231120 a rdfs:Class ; rdfs:label "Beckwith-Wiedemann syndrome due to CDKN1C mutation" ; rdfs:subClassOf ordo:Orphanet_116 , ordo:Orphanet_377795 . ordo:Orphanet_183651 a rdfs:Class ; rdfs:label "Rare constitutional anemia" ; rdfs:subClassOf ordo:Orphanet_158300 . ordo:Orphanet_93213 a rdfs:Class ; rdfs:label "Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" ; rdfs:subClassOf ordo:Orphanet_377797 , ordo:Orphanet_656 . ordo:Orphanet_238510 a rdfs:Class ; rdfs:label "Lymphoproliferative syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_169361 , . a rdfs:Class ; rdfs:label "multiple congenital anomalies/dysmorphic syndrome" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "glutaric aciduria (disease)" ; rdfs:comment "Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency" ; rdfs:subClassOf . ordo:Orphanet_52416 a rdfs:Class ; rdfs:label "Mantle cell lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_158032 a rdfs:Class ; rdfs:label "Hemophagocytic syndrome"@en ; rdfs:subClassOf ordo:Orphanet_98004 . ordo:Orphanet_399998 a rdfs:Class ; rdfs:label "Male infertility due to obstructive azoospermia of genetic origin" ; rdfs:subClassOf ordo:Orphanet_399980 , . ordo:Orphanet_90776 a rdfs:Class ; rdfs:label "46,XX disorder of sex development induced by fetal androgens excess" ; rdfs:subClassOf . ordo:Orphanet_467 a rdfs:Class ; rdfs:label "Non-acquired combined pituitary hormone deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_95488 . ordo:Orphanet_293173 a rdfs:Class ; rdfs:label "Acute generalized exanthematous pustulosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "pseudohypoparathyroidism without Albright hereditary osteodystrophy" ; rdfs:subClassOf ordo:Orphanet_97593 . a rdfs:Class ; rdfs:label "sideroblastic anemia" ; rdfs:comment "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)." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "pervasive developmental disorder" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_183527 a rdfs:Class ; rdfs:label "Genetic bone tumor" ; rdfs:subClassOf ordo:Orphanet_68336 , , . ordo:ObsoleteClass a rdfs:Class ; rdfs:label "obsolete class"@en . ordo:Orphanet_98300 a rdfs:Class ; rdfs:label "Idiopathic interstitial pneumonia"@en ; rdfs:subClassOf ordo:Orphanet_264740 . ordo:Orphanet_183595 a rdfs:Class ; rdfs:label "Genetic renal tumor" ; rdfs:subClassOf ordo:Orphanet_68336 , . ordo:Orphanet_2268 a rdfs:Class ; rdfs:label "ICF syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_169346 , ordo:Orphanet_229720 , ordo:Orphanet_377789 , . ordo:Orphanet_534 a rdfs:Class ; rdfs:label "Oculocerebrorenal syndrome" ; rdfs:comment "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_139009 , ordo:Orphanet_182076 , ordo:Orphanet_183592 , ordo:Orphanet_377789 , ordo:Orphanet_79166 , ordo:Orphanet_98638 , ordo:Orphanet_98646 , ordo:Orphanet_98712 , , . a rdfs:Class ; rdfs:label "anemia (disease)" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hypersensitivity reaction disease" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "pulmonary arterial hypertension" ; rdfs:comment "Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." ; rdfs:subClassOf , . ordo:Orphanet_3303 a rdfs:Class ; rdfs:label "Tetralogy of Fallot"@en ; rdfs:subClassOf ordo:Orphanet_377789 . a rdfs:Class ; rdfs:label "autonomic nervous system disease" ; rdfs:comment "A disease involving the autonomic nervous system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Disease, Disorder or Finding" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_3463 a rdfs:Class ; rdfs:label "Wolfram syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_183625 , ordo:Orphanet_377788 , ordo:Orphanet_90642 , ordo:Orphanet_98677 , . ordo:Orphanet_325697 a rdfs:Class ; rdfs:label "Genetic 46,XX disorder of sex development" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_325690 . a rdfs:Class ; rdfs:label "lens disease" ; rdfs:comment "A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern]" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare epidermal disease" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_227786 a rdfs:Class ; rdfs:label "Familial flecked retinopathy" ; rdfs:subClassOf ordo:Orphanet_98664 . ordo:Orphanet_498448 a rdfs:Class ; rdfs:label "Overgrowth or tall stature syndrome with skeletal involvement"@en ; rdfs:subClassOf ordo:Orphanet_364526 . ordo:Orphanet_263458 a rdfs:Class ; rdfs:label "Hyperinsulinism due to INSR deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_276525 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "pregnancy disorder" ; rdfs:comment "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. [database_cross_reference: NCIT:C35169]" ; rdfs:subClassOf . ordo:Orphanet_13 a rdfs:Class ; rdfs:label "6-pyruvoyl-tetrahydropterin synthase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_238583 , ordo:Orphanet_377796 . ordo:Orphanet_309505 a rdfs:Class ; rdfs:label "Disorder of fucoglycosan synthesis" ; rdfs:subClassOf ordo:Orphanet_309447 . a rdfs:Class ; rdfs:label "syndromic diaphragmatic or abdominal wall malformation" ; rdfs:comment "A diaphragmatic or abdominal wall malformation that is part of a larger syndrome." ; rdfs:subClassOf , . ordo:Orphanet_86873 a rdfs:Class ; rdfs:label "Aggressive NK-cell leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_166475 a rdfs:Class ; rdfs:label "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" ; rdfs:subClassOf ordo:Orphanet_183512 , . ordo:Orphanet_963 a rdfs:Class ; rdfs:label "Acromegaly"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "psoriasis" ; rdfs:comment "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." ; rdfs:subClassOf , , , . ordo:Orphanet_399849 a rdfs:Class ; rdfs:label "Rare female infertility due to an adrenal disorder"@en ; rdfs:subClassOf ordo:Orphanet_399831 . ordo:Orphanet_101943 a rdfs:Class ; rdfs:label "Rare hepatic and biliary tract tumor"@en ; rdfs:subClassOf ordo:Orphanet_57146 , ordo:Orphanet_98059 . a rdfs:Class ; rdfs:label "cardiovascular neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_276152 a rdfs:Class ; rdfs:label "Multiple endocrine neoplasia type 4" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_276161 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "mouth disease" ; rdfs:comment "A disease involving the mouth." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "microphthalmia" ; rdfs:comment "Congenital or developmental anomaly in which the eyeballs are abnormally small." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "experimental factor" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "intestinal polyposis syndrome" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "short bowel syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Geographic Area" ; rdfs:comment "Any demarcated area of the Earth; may be determined by both natural and human boundaries." ; rdfs:subClassOf . ordo:Orphanet_400003 a rdfs:Class ; rdfs:label "Rare genetic disorder with obstructive azoospermia" ; rdfs:comment "Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_399998 . ordo:Orphanet_158 a rdfs:Class ; rdfs:label "Systemic primary carnitine deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206953 , ordo:Orphanet_217616 , ordo:Orphanet_309130 , ordo:Orphanet_377788 , . ordo:Orphanet_275 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to DCLRE1C deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_317419 , ordo:Orphanet_377788 , . ordo:Orphanet_183583 a rdfs:Class ; rdfs:label "Genetic head and neck malformation" ; rdfs:subClassOf ordo:Orphanet_183530 , , . ordo:Orphanet_93550 a rdfs:Class ; rdfs:label "Basement membrane disease" ; rdfs:subClassOf ordo:Orphanet_183586 . ordo:Orphanet_97966 a rdfs:Class ; rdfs:label "Rare ophthalmic disorder"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_262633 a rdfs:Class ; rdfs:label "Partial duplication of chromosome 7" ; rdfs:subClassOf ordo:Orphanet_98132 . ordo:Orphanet_498488 a rdfs:Class ; rdfs:label "Overgrowth syndrome with 2q37 translocation"@en ; rdfs:subClassOf ordo:Orphanet_377789 . ordo:Orphanet_108997 a rdfs:Class ; rdfs:label "Rare anemia"@en ; rdfs:subClassOf ordo:Orphanet_97992 . ordo:Orphanet_314022 a rdfs:Class ; rdfs:label "Gastric adenocarcinoma and proximal polyposis of the stomach"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_309836 a rdfs:Class ; rdfs:label "Disorder of mineral absorption and transport" ; rdfs:subClassOf ordo:Orphanet_309824 . ordo:Orphanet_91364 a rdfs:Class ; rdfs:label "Non-specific interstitial pneumonia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_2238 a rdfs:Class ; rdfs:label "Familial isolated hypoparathyroidism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_208593 , ordo:Orphanet_377788 , ordo:Orphanet_98712 . ordo:Orphanet_95503 a rdfs:Class ; rdfs:label "Pituitary hormone deficiency from tumoral origin"@en ; rdfs:subClassOf ordo:Orphanet_95502 . a rdfs:Class ; rdfs:label "rare disorder with ptosis" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_98577 . ordo:Orphanet_181412 a rdfs:Class ; rdfs:label "Adrenogenital syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101954 , ordo:Orphanet_183637 , ordo:Orphanet_68367 , , . a rdfs:Class ; rdfs:label "immune system disease" ; rdfs:comment "A disorder resulting from an abnormality in the immune system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "anemia, hypochromic microcytic with iron overload" ; rdfs:subClassOf . ordo:Orphanet_869 a rdfs:Class ; rdfs:label "Triple A syndrome" ; rdfs:comment "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101960 , ordo:Orphanet_207015 , ordo:Orphanet_371445 , ordo:Orphanet_377788 , ordo:Orphanet_98604 , , . ordo:Orphanet_97927 a rdfs:Class ; rdfs:label "Peripheral resistance to thyroid hormones" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_226310 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "rare pulmonary disease" ; rdfs:comment "Editor note: TODO merge with parent, distinction in ORDO not clear" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_890 a rdfs:Class ; rdfs:label "Hepatic veno-occlusive disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "adrenal gland hyperfunction" ; rdfs:comment "Excess production of adrenal cortex hormones." ; rdfs:subClassOf . ordo:Orphanet_98052 a rdfs:Class ; rdfs:label "Rare allergic respiratory disease"@en ; rdfs:subClassOf ordo:Orphanet_98050 . ordo:Orphanet_98063 a rdfs:Class ; rdfs:label "Rare gynecological tumor"@en ; rdfs:subClassOf ordo:Orphanet_96344 , ordo:Orphanet_98057 . ordo:Orphanet_79195 a rdfs:Class ; rdfs:label "Sterol biosynthesis disorder" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_79226 . ordo:Orphanet_307804 a rdfs:Class ; rdfs:label "Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_307711 , . ordo:Orphanet_261 a rdfs:Class ; rdfs:label "Emery-Dreifuss muscular dystrophy" ; rdfs:comment "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." ; rdfs:subClassOf ordo:Orphanet_206644 , ordo:Orphanet_217610 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "rare photodermatosis" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_377 a rdfs:Class ; rdfs:label "Gorlin syndrome" ; rdfs:comment "Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities." ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_183487 , ordo:Orphanet_377789 , ordo:Orphanet_98196 , ordo:Orphanet_98584 , , , , . ordo:Orphanet_243 a rdfs:Class ; rdfs:label "46,XX gonadal dysgenesis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_325055 , ordo:Orphanet_377789 , ordo:Orphanet_399877 , ordo:Orphanet_95710 , ordo:Orphanet_98074 , . ordo:Orphanet_522570 a rdfs:Class ; rdfs:label "Rare genetic disorder of the posterior segment of the eye"@en ; rdfs:subClassOf ordo:Orphanet_522504 . a rdfs:Class ; rdfs:label "Digestive System Carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Telecommunication Address" ; rdfs:comment "The value for a particular telecommunication address used as the contact telecommunication information for a person or organization." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "acroosteolysis" ; rdfs:comment "A condition that is characterized by degeneration of the distal phalanges." ; rdfs:subClassOf ordo:Orphanet_93449 . ordo:Orphanet_207049 a rdfs:Class ; rdfs:label "Qualitative or quantitative protein defects in neuromuscular diseases" ; rdfs:subClassOf ordo:Orphanet_183497 . ordo:Orphanet_90794 a rdfs:Class ; rdfs:label "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_377788 , ordo:Orphanet_399994 , ordo:Orphanet_400018 , ordo:Orphanet_418 , ordo:Orphanet_90776 , , . ordo:Orphanet_98600 a rdfs:Class ; rdfs:label "Eyebrow/eyelashes distichiasis" ; rdfs:subClassOf ordo:Orphanet_98594 . a rdfs:Class ; rdfs:label "disorder of glycosylation" ; rdfs:comment "A disease that has its basis in the disruption of glycosylation." ; rdfs:subClassOf . ordo:Orphanet_165985 a rdfs:Class ; rdfs:label "Diazoxide-sensitive diffuse hyperinsulinism" ; rdfs:subClassOf ordo:Orphanet_657 . ordo:Orphanet_90786 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect" ; rdfs:subClassOf ordo:Orphanet_325632 , ordo:Orphanet_90783 . ordo:Orphanet_183628 a rdfs:Class ; rdfs:label "Rare genetic hypothalamic or pituitary disease" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156638 . ordo:Orphanet_253 a rdfs:Class ; rdfs:label "Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia" ; rdfs:subClassOf ordo:Orphanet_364526 . ordo:Orphanet_457 a rdfs:Class ; rdfs:label "Harlequin ichthyosis" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_676 a rdfs:Class ; rdfs:label "Hereditary chronic pancreatitis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_165661 , ordo:Orphanet_183625 , ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "'Bosnia and Herzegovina'" . ordo:Orphanet_3143 a rdfs:Class ; rdfs:label "Autoimmune polyendocrinopathy type 2"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "motor neuron disease" ; rdfs:comment "A disease involving the motor neuron." ; rdfs:subClassOf , , . ordo:Orphanet_98142 a rdfs:Class ; rdfs:label "Partial autosomal monosomy" ; rdfs:subClassOf ordo:Orphanet_102020 . a rdfs:Class ; rdfs:label "EUROCAT Central Registry" ; rdfs:comment "The Central Registry of EUROCAT collects 96 variables from the member registries. At local level the registries can collect additional variables" ; rdfs:subClassOf . ordo:Orphanet_399164 a rdfs:Class ; rdfs:label "Avascular necrosis"@en ; rdfs:subClassOf ordo:Orphanet_399158 . ordo:Orphanet_98793 a rdfs:Class ; rdfs:label "Prader-Willi syndrome due to paternal 15q11q13 deletion" ; rdfs:subClassOf ordo:Orphanet_262119 , ordo:Orphanet_377795 , ordo:Orphanet_739 . ordo:Orphanet_87 a rdfs:Class ; rdfs:label "Apert syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_138055 , ordo:Orphanet_377789 , ordo:Orphanet_946 , ordo:Orphanet_98684 . ordo:Orphanet_93460 a rdfs:Class ; rdfs:label "Overgrowth syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139024 , ordo:Orphanet_183573 . ordo:Orphanet_182101 a rdfs:Class ; rdfs:label "Idiopathic eosinophilic pneumonia"@en ; rdfs:subClassOf ordo:Orphanet_264935 . a rdfs:Class ; rdfs:label "ovarian dysfunction" ; rdfs:comment "The inability of the ovaries to function. [ NCI ]" ; rdfs:subClassOf . ordo:Orphanet_54260 a rdfs:Class ; rdfs:label "Left ventricular noncompaction" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98054 , , , , , , . a rdfs:Class ; rdfs:label "Hyperthyroidism" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_39044 a rdfs:Class ; rdfs:label "Uveal melanoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_306661 a rdfs:Class ; rdfs:label "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_309458 , ordo:Orphanet_371200 , ordo:Orphanet_377796 , , , , . ordo:Orphanet_136 a rdfs:Class ; rdfs:label "CADASIL" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_371439 , ordo:Orphanet_377788 , ordo:Orphanet_98692 , , . ordo:Orphanet_79356 a rdfs:Class ; rdfs:label "Acrokeratoderma"@en ; rdfs:subClassOf ordo:Orphanet_79353 . a rdfs:Class ; rdfs:label "dysgammaglobulinemia (disease)" ; rdfs:comment "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "hypertension, pregnancy-induced" ; rdfs:comment "A hypertensive disorder that develops during pregnancy." ; rdfs:subClassOf , . ordo:Orphanet_363314 a rdfs:Class ; rdfs:label "Genetic intestinal polyposis" ; rdfs:subClassOf ordo:Orphanet_165655 , ordo:Orphanet_271835 , , . ordo:Orphanet_169082 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to CD3gamma deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "female reproductive system neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_98560 a rdfs:Class ; rdfs:label "Rare palpebral disease" ; rdfs:subClassOf ordo:Orphanet_183598 , ordo:Orphanet_519266 , ordo:Orphanet_98553 , . ordo:Orphanet_83465 a rdfs:Class ; rdfs:label "Narcolepsy type 2"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_180766 a rdfs:Class ; rdfs:label "Malformative syndrome with dentinogenesis imperfecta" ; rdfs:subClassOf ordo:Orphanet_183580 , ordo:Orphanet_77830 . a rdfs:Class ; rdfs:label "vitamin D-dependent rickets" ; rdfs:subClassOf , . ordo:Orphanet_75391 a rdfs:Class ; rdfs:label "Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101988 , ordo:Orphanet_377788 , , . ordo:Orphanet_90797 a rdfs:Class ; rdfs:label "Partial androgen insensitivity syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_754 . a rdfs:Class ; rdfs:label "Topic" ; rdfs:seeAlso , , , , , , , ; rdfs:subClassOf . ordo:Orphanet_206953 a rdfs:Class ; rdfs:label "Muscular lipidosis" ; rdfs:subClassOf ordo:Orphanet_98486 . a rdfs:Class ; rdfs:label "degenerative disorder" ; rdfs:comment "A disorder characterized by the progressive loss of function and/or structure of the affected tissues." ; rdfs:subClassOf . ordo:Orphanet_331249 a rdfs:Class ; rdfs:label "Immunodeficiency syndrome with hypopigmentation" ; rdfs:subClassOf ordo:Orphanet_158038 , , , . ordo:Orphanet_79167 a rdfs:Class ; rdfs:label "Disorder of urea cycle metabolism and ammonia detoxification" ; rdfs:subClassOf ordo:Orphanet_79062 . a rdfs:Class ; rdfs:label "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "metabolic disease with epilepsy" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "organisation" ; rdfs:comment "The Organization class represents a kind of Agent corresponding to social instititutions such as companies, societies etc." ; rdfs:subClassOf . a rdf:Property ; rdfs:range . a rdf:Property ; rdfs:label "has provider"@en ; rdfs:domain ; rdfs:range ; rdfs:subPropertyOf . ordo:Orphanet_322 a rdfs:Class ; rdfs:label "Exstrophy-epispadias complex" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_357506 , ordo:Orphanet_377789 , , . ordo:Orphanet_276585 a rdfs:Class ; rdfs:label "Diazoxide-resistant hyperinsulinism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_657 . ordo:Orphanet_1830 a rdfs:Class ; rdfs:label "Schimke immuno-osseous dysplasia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102373 , ordo:Orphanet_169349 , ordo:Orphanet_180766 , ordo:Orphanet_253 , ordo:Orphanet_377788 , . ordo:Orphanet_104009 a rdfs:Class ; rdfs:label "Congenital intestinal motility disorder" ; rdfs:subClassOf ordo:Orphanet_165655 . ordo:Orphanet_309515 a rdfs:Class ; rdfs:label "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" ; rdfs:subClassOf ordo:Orphanet_137 , ordo:Orphanet_309005 , . a rdfs:Class ; rdfs:label "vascular ectasia" ; rdfs:subClassOf . ordo:Orphanet_209041 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of desmin" ; rdfs:subClassOf ordo:Orphanet_209038 . ordo:Orphanet_98153 a rdfs:Class ; rdfs:label "Uniparental disomy of maternal origin" ; rdfs:subClassOf ordo:Orphanet_98152 . a rdfs:Class ; rdfs:label "EpiCARE" ; rdfs:comment "Redcap Registry is aimed to locate patients with Rare and complex epilepsies across 28 EpiCARE Centres" ; rdfs:subClassOf . ordo:Orphanet_98074 a rdfs:Class ; rdfs:label "Gonadal dysgenesis of gynecological interest" ; rdfs:subClassOf ordo:Orphanet_325665 . ordo:Orphanet_169160 a rdfs:Class ; rdfs:label "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta" ; rdfs:subClassOf ordo:Orphanet_317416 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "teratozoospermia" ; rdfs:comment "presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" ; rdfs:subClassOf . ordo:Orphanet_213524 a rdfs:Class ; rdfs:label "Hereditary site-specific ovarian cancer syndrome" ; rdfs:comment ", confer an elevated ovarian cancer risk in a minority of patients." ; rdfs:subClassOf ordo:Orphanet_183731 , ordo:Orphanet_213517 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "epidermolysis bullosa" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_1478 a rdfs:Class ; rdfs:label "Interauricular communication" ; rdfs:subClassOf ordo:Orphanet_271853 , ordo:Orphanet_377791 . ordo:Orphanet_293181 a rdfs:Class ; rdfs:label "Malignant migrating partial seizures of infancy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_182083 , ordo:Orphanet_377788 , ordo:Orphanet_98257 . ordo:Orphanet_93444 a rdfs:Class ; rdfs:label "Primary bone dysplasia with increased bone density" ; rdfs:subClassOf ordo:Orphanet_93447 . ordo:Orphanet_286 a rdfs:Class ; rdfs:label "Ehlers-Danlos syndrome, vascular type" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_285014 , ordo:Orphanet_377788 , ordo:Orphanet_98249 . ordo:Orphanet_371439 a rdfs:Class ; rdfs:label "Genetic cerebrovascular dementia" ; rdfs:subClassOf ordo:Orphanet_158124 , ordo:Orphanet_183503 , . a rdfs:Class ; rdfs:label "disease of pilosebaceous unit" ; rdfs:comment "A disease that involves the pilosebaceous unit." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Activity" ; rdfs:comment "An active process; excludes processes and mechanisms which fulfill biological functions." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "benign tumor of palpebral epidermis" ; rdfs:comment "A benign neoplasm that involves the skin of eyelid." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "female infertility due to an anomaly of ovarian function" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_304055 a rdfs:Class ; rdfs:label "Pituitary tumor"@en ; rdfs:subClassOf ordo:Orphanet_182130 . ordo:Orphanet_319539 a rdfs:Class ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" ; rdfs:comment "Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "cerebral lipidosis with dementia" ; rdfs:subClassOf ordo:Orphanet_79204 , ordo:Orphanet_98543 . ordo:Orphanet_264724 a rdfs:Class ; rdfs:label "Langerhans cell histiocytosis specific to childhood"@en ; rdfs:subClassOf ordo:Orphanet_264699 . a rdfs:Class ; rdfs:label "EuroBloodNet Registry" ; rdfs:comment "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:subClassOf . ordo:Orphanet_52759 a rdfs:Class ; rdfs:label "Vasculitis"@en ; rdfs:subClassOf ordo:Orphanet_68362 , ordo:Orphanet_98023 . ordo:Orphanet_209059 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of alpha-actin" ; rdfs:subClassOf ordo:Orphanet_207049 . ordo:Orphanet_371071 a rdfs:Class ; rdfs:label "Congenital disorder of glycosylation with epilepsy as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_371047 , . a rdfs:Class ; rdfs:label "rare neuroinflammatory or neuroimmunological disease" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_474 a rdfs:Class ; rdfs:label "Jeune syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_1505 , ordo:Orphanet_183592 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , , . a rdfs:Class ; rdfs:label "hypoparathyroidism, familial isolated" ; rdfs:comment "Editor note: check relationship to parent" ; rdfs:subClassOf ordo:Orphanet_2238 . a rdfs:Class ; rdfs:label "small intestine neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_98611 a rdfs:Class ; rdfs:label "Conjunctival vascular anomaly" ; rdfs:subClassOf ordo:Orphanet_98610 , . ordo:Orphanet_34526 a rdfs:Class ; rdfs:label "Familial primary hypomagnesemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_309848 , ordo:Orphanet_93603 , , . ordo:Orphanet_284417 a rdfs:Class ; rdfs:label "Phosphoserine aminotransferase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_35705 , ordo:Orphanet_377788 , . ordo:Orphanet_567 a rdfs:Class ; rdfs:label "22q11.2 deletion syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_138047 , ordo:Orphanet_156532 , ordo:Orphanet_181402 , ordo:Orphanet_183576 , ordo:Orphanet_262182 , ordo:Orphanet_330197 , ordo:Orphanet_331220 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , ordo:Orphanet_93547 , , . ordo:Orphanet_79178 a rdfs:Class ; rdfs:label "Glucose transport disorder" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of glucose transport." ; rdfs:subClassOf ordo:Orphanet_309001 . ordo:Orphanet_79278 a rdfs:Class ; rdfs:label "Erythropoietic protoporphyria" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_95157 . ordo:Orphanet_254746 a rdfs:Class ; rdfs:label "Pyruvate metabolism disorder" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process." ; rdfs:subClassOf ordo:Orphanet_289899 , ordo:Orphanet_79200 . a rdfs:Class ; rdfs:label "malignant exocrine pancreas neoplasm" ; rdfs:comment "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." ; rdfs:subClassOf , . ordo:Orphanet_165658 a rdfs:Class ; rdfs:label "Genetic gastro-esophageal disease" ; rdfs:subClassOf ordo:Orphanet_165652 , , . a rdfs:Class ; rdfs:label "cognitive disorder" ; rdfs:comment "Disturbances in mental processes related to learning, thinking, reasoning, and judgment." ; rdfs:subClassOf . ordo:Orphanet_650 a rdfs:Class ; rdfs:label "LCAT deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_31153 , ordo:Orphanet_377788 , ordo:Orphanet_93593 , ordo:Orphanet_98711 . a rdfs:Class ; rdfs:label "retroperitoneal neoplasm" ; rdfs:comment "A benign or malignant neoplasm that affects the retroperitoneum." ; rdfs:subClassOf , . ordo:Orphanet_247525 a rdfs:Class ; rdfs:label "Citrullinemia type I" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_187 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Drug identifier" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "primary lymphedema with associated anomalies" ; rdfs:subClassOf ordo:Orphanet_77240 . ordo:Orphanet_1396 a rdfs:Class ; rdfs:label "Cerebro-reno-digital syndrome" ; rdfs:subClassOf ordo:ObsoleteClass , ordo:Orphanet_93547 , ordo:Orphanet_93587 . ordo:Orphanet_182117 a rdfs:Class ; rdfs:label "Non-syndromic urogenital tract malformation of female"@en ; rdfs:subClassOf ordo:Orphanet_165704 . ordo:Orphanet_98634 a rdfs:Class ; rdfs:label "Iridogoniodysgenesis" ; rdfs:comment "Editor note: see https://github.com/monarch-initiative/mondo/issues/203" ; rdfs:subClassOf ordo:Orphanet_98632 . ordo:Orphanet_96344 a rdfs:Class ; rdfs:label "Rare gynecologic or obstetric disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_2297 a rdfs:Class ; rdfs:label "Insulin-resistance syndrome type A" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_181368 , ordo:Orphanet_377788 , ordo:Orphanet_400022 . ordo:Orphanet_195 a rdfs:Class ; rdfs:label "Cat-eye syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_117573 , ordo:Orphanet_263708 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_98683 . a rdfs:Class ; rdfs:label "reproductive system cancer" ; rdfs:comment "A malignant neoplasm involving the reproductive organ" ; rdfs:subClassOf , . ordo:Orphanet_97556 a rdfs:Class ; rdfs:label "Congenital and infantile nephrotic syndrome" ; rdfs:subClassOf ordo:Orphanet_102373 , . a rdfs:Class ; rdfs:label "gonadal dysgenesis" ; rdfs:comment "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics." ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_28 a rdfs:Class ; rdfs:label "Vitamin B12-responsive methylmalonic acidemia" ; rdfs:comment "v2)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_293355 , ordo:Orphanet_377788 , ordo:Orphanet_79171 , ordo:Orphanet_93593 . ordo:Orphanet_357237 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to CARD11 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_397802 . ordo:Orphanet_56044 a rdfs:Class ; rdfs:label "Carcinoma of gallbladder and extrahepatic biliary tract"@en ; rdfs:subClassOf ordo:Orphanet_306633 . ordo:Orphanet_709 a rdfs:Class ; rdfs:label "Peters plus syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_108987 , ordo:Orphanet_309505 , ordo:Orphanet_371064 , ordo:Orphanet_371183 , ordo:Orphanet_377789 , ordo:Orphanet_98638 , . ordo:Orphanet_139402 a rdfs:Class ; rdfs:label "Drug rash with eosinophilia and systemic symptoms"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_2512 a rdfs:Class ; rdfs:label "Autosomal recessive primary microcephaly" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_199642 , ordo:Orphanet_377795 , ordo:Orphanet_98692 . a rdfs:Class ; rdfs:label "thrombotic disease" ; rdfs:comment "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "blindness (disorder)" ; rdfs:comment "The lack of vision. It is caused by neurological or physiological factors." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "familial nephrotic syndrome" ; rdfs:comment "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf , . ordo:Orphanet_240371 a rdfs:Class ; rdfs:label "Syndromic obesity" ; rdfs:subClassOf ordo:Orphanet_139024 , ordo:Orphanet_77828 , . a rdfs:Class ; rdfs:label "multiple congenital anomalies/dysmorphic syndrome without intellectual disability" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "microcephaly (disease)" ; rdfs:comment "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." ; rdfs:subClassOf . ordo:Orphanet_98396 a rdfs:Class ; rdfs:label "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" ; rdfs:subClassOf ordo:Orphanet_248296 , , . a rdfs:Class ; rdfs:label "craniosynostosis syndrome, autosomal recessive" ; rdfs:comment "Autosomal recessive form of craniosynostosis." ; rdfs:subClassOf , ordo:Orphanet_1531 . ordo:Orphanet_93217 a rdfs:Class ; rdfs:label "Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" ; rdfs:subClassOf ordo:Orphanet_377797 , ordo:Orphanet_656 . ordo:Orphanet_98623 a rdfs:Class ; rdfs:label "Syndromic keratoconus" ; rdfs:comment "A keratoconus (disease) that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_156071 , . ordo:Orphanet_816 a rdfs:Class ; rdfs:label "Sjögren-Larsson syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_181437 , ordo:Orphanet_281097 , ordo:Orphanet_281238 , ordo:Orphanet_352306 , ordo:Orphanet_377788 , ordo:Orphanet_68356 , ordo:Orphanet_68385 , ordo:Orphanet_98666 , ordo:Orphanet_98699 , ordo:Orphanet_98712 , ordo:Orphanet_98713 . ordo:Orphanet_757 a rdfs:Class ; rdfs:label "Pseudohypoaldosteronism type 2" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_156629 , ordo:Orphanet_377788 , . ordo:Orphanet_309526 a rdfs:Class ; rdfs:label "Disorder of multiple glycosylation" ; rdfs:subClassOf ordo:Orphanet_137 . a rdfs:Class ; rdfs:label "gastroesophageal disease" ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "collagenopathy" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "unclassified cardiomyopathy" ; rdfs:subClassOf . ordo:Orphanet_523000 a rdfs:Class ; rdfs:label "Pediatric-onset glaucoma"@en ; rdfs:subClassOf ordo:Orphanet_519329 . ordo:Orphanet_480 a rdfs:Class ; rdfs:label "Kearns-Sayre syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_181402 , ordo:Orphanet_217613 , ordo:Orphanet_225703 , ordo:Orphanet_254767 , ordo:Orphanet_68385 , ordo:Orphanet_90642 , ordo:Orphanet_98661 , ordo:Orphanet_98683 , ordo:Orphanet_98689 , ordo:Orphanet_98695 , , . ordo:Orphanet_156643 a rdfs:Class ; rdfs:label "Genetic endocrine growth disease"@en ; rdfs:subClassOf ordo:Orphanet_156638 . ordo:Orphanet_98503 a rdfs:Class ; rdfs:label "Motor neuron disease"@en ; rdfs:subClassOf ordo:Orphanet_68381 . a rdfs:Class ; rdfs:label "immunodeficiency 27A" ; rdfs:subClassOf ordo:Orphanet_748 . a rdfs:Class ; rdfs:label "patient registry dataset" ; rdfs:comment "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)." ; rdfs:subClassOf . a rdf:Property ; rdfs:range . a rdf:Property ; rdfs:range . a rdfs:Class ; rdfs:label "primary hyperparathyroidism (disease)" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "primary ovarian insufficiency" ; rdfs:comment "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "optic choroid disease" ; rdfs:comment "A disease involving the optic choroid." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "sensory organ benign neoplasm" ; rdfs:comment "A benign neoplasm that involves the sense organ." ; rdfs:subClassOf , . ordo:Orphanet_98363 a rdfs:Class ; rdfs:label "Rare hemolytic anemia"@en ; rdfs:subClassOf ordo:Orphanet_108997 . ordo:Orphanet_2443 a rdfs:Class ; rdfs:label "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_223713 . a rdfs:Class ; rdfs:label "synucleinopathy" ; rdfs:comment "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 ]" ; rdfs:subClassOf . ordo:Orphanet_306522 a rdfs:Class ; rdfs:label "Familial primary hypomagnesemia with normocalcuria" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_34526 . ordo:Orphanet_238468 a rdfs:Class ; rdfs:label "Hypohidrotic ectodermal dysplasia" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_79373 , ordo:Orphanet_98604 , , , . a rdfs:Class ; rdfs:label "hyperinsulinemic hypoglycemia" ; rdfs:comment "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." ; rdfs:subClassOf ordo:Orphanet_79161 . a rdfs:Class ; rdfs:label "disease by cellular component affected" ; rdfs:subClassOf . ordo:Orphanet_182079 a rdfs:Class ; rdfs:label "ARX-related epileptic encephalopathy" ; rdfs:subClassOf ordo:Orphanet_166472 . ordo:Orphanet_108963 a rdfs:Class ; rdfs:label "Non-syndromic gastroduodenal malformation" ; rdfs:comment "A gastroduodenal malformation that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_97944 . ordo:Orphanet_97962 a rdfs:Class ; rdfs:label "Rare surgical thoracic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_68366 a rdfs:Class ; rdfs:label "Lysosomal disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_68367 , . ordo:Orphanet_34515 a rdfs:Class ; rdfs:label "Autosomal recessive limb-girdle muscular dystrophy type 2I" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102015 , ordo:Orphanet_207119 , ordo:Orphanet_309469 , ordo:Orphanet_371047 , ordo:Orphanet_377788 . ordo:Orphanet_171901 a rdfs:Class ; rdfs:label "Primary cutaneous T-cell lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_171918 , ordo:Orphanet_542 . ordo:Orphanet_158665 a rdfs:Class ; rdfs:label "Basal epidermolysis bullosa simplex" ; rdfs:comment "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." ; rdfs:subClassOf ordo:Orphanet_304 . a rdfs:Class ; rdfs:label "primary interstitial lung disease specific to childhood due to alveolar vascular disorder" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Ukrainian SMA Registry" ; rdfs:comment "On-line patient registry for spinal muscular atrophy in Ukraine" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "tyrosine hydroxylase deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_68385 , ordo:Orphanet_79169 . a rdfs:Class ; rdfs:label "rare refraction anomaly" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_98615 a rdfs:Class ; rdfs:label "Pigmented conjunctival lesion" ; rdfs:subClassOf ordo:Orphanet_98610 , . ordo:Orphanet_98258 a rdfs:Class ; rdfs:label "Infantile epilepsy syndrome" ; rdfs:comment "A epilepsy syndrome that occurs between 28 days to one year of life.." ; rdfs:subClassOf ordo:Orphanet_166463 . a rdfs:Class ; rdfs:label "homocystinuria (disease)" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_79173 . ordo:Orphanet_183763 a rdfs:Class ; rdfs:label "Rare genetic intellectual disability with developmental anomaly" ; rdfs:subClassOf ordo:Orphanet_183757 . ordo:Orphanet_207113 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan" ; rdfs:subClassOf ordo:Orphanet_309447 , ordo:Orphanet_371024 . ordo:Orphanet_45 a rdfs:Class ; rdfs:label "Adenosine monophosphate deaminase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206966 , ordo:Orphanet_377788 , ordo:Orphanet_79191 . a rdfs:Class ; rdfs:label "Granddaughter" ; rdfs:comment "A female grandchild." ; rdfs:subClassOf . ordo:Orphanet_281085 a rdfs:Class ; rdfs:label "Inherited ichthyosis syndromic form" ; rdfs:comment "A inherited ichthyosis that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183435 , . ordo:Orphanet_183447 a rdfs:Class ; rdfs:label "Genetic epidermal appendage anomaly" ; rdfs:comment "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_68346 , , . a rdfs:Class ; rdfs:label "Accession" ; rdfs:seeAlso , ; rdfs:subClassOf . ordo:Orphanet_172976 a rdfs:Class ; rdfs:label "Congenital myopathy with cores" ; rdfs:subClassOf ordo:Orphanet_97245 . a rdfs:Class ; rdfs:label "Wife" ; rdfs:comment "A female partner in marriage." ; rdfs:subClassOf . ordo:Orphanet_319547 a rdfs:Class ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_319535 , ordo:Orphanet_377788 , , . ordo:Orphanet_98690 a rdfs:Class ; rdfs:label "Myasthenic syndrome with eye involvement" ; rdfs:subClassOf ordo:Orphanet_98689 . a rdfs:Class ; rdfs:label "macular degeneration" ; rdfs:comment "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." ; rdfs:subClassOf . ordo:Orphanet_156215 a rdfs:Class ; rdfs:label "Oromandibular-limb anomalies syndrome" ; rdfs:subClassOf ordo:Orphanet_156212 . ordo:Orphanet_549 a rdfs:Class ; rdfs:label "Legionellosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_249 a rdfs:Class ; rdfs:label "Fibrous dysplasia of bone" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93450 . ordo:Orphanet_66518 a rdfs:Class ; rdfs:label "Short fifth metacarpals - insulin resistance" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_181368 , ordo:Orphanet_377788 . ordo:Orphanet_98712 a rdfs:Class ; rdfs:label "Metabolic disease with cataract" ; rdfs:subClassOf ordo:Orphanet_98710 . ordo:Orphanet_98645 a rdfs:Class ; rdfs:label "Cerebral disease with cataract" ; rdfs:subClassOf ordo:Orphanet_98643 . ordo:Orphanet_2088 a rdfs:Class ; rdfs:label "Glycogen storage disease due to GLUT2 deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_377788 , ordo:Orphanet_79178 , ordo:Orphanet_79201 , ordo:Orphanet_93593 . a rdfs:Class ; rdfs:label "disorder of organic acid metabolism" ; rdfs:comment "A disease that has its basis in the disruption of organic acid metabolic process." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "dysostosis" ; rdfs:comment "A disorder of the development of bone in which ossification is affected." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "adenocarcinoma" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_98464 a rdfs:Class ; rdfs:label "X-linked syndromic intellectual disability" ; rdfs:comment "A syndromic intellectual disability with an X-linked mode of inheritance." ; rdfs:subClassOf ordo:Orphanet_183763 , , . ordo:Orphanet_400 a rdfs:Class ; rdfs:label "Cystic echinococcosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_99860 a rdfs:Class ; rdfs:label "Precursor B-cell acute lymphoblastic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Grand Relative" ; rdfs:comment "A relative separated by two generations." ; rdfs:subClassOf . ordo:Orphanet_397590 a rdfs:Class ; rdfs:label "Silver-Russell syndrome due to a point mutation" ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_813 . ordo:Orphanet_3109 a rdfs:Class ; rdfs:label "Mayer-Rokitansky-Küster-Hauser syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_165707 , ordo:Orphanet_180068 , ordo:Orphanet_377789 , ordo:Orphanet_400025 , ordo:Orphanet_93547 , . a rdfs:Class ; rdfs:label "large intestine disease" ; rdfs:comment "A disease that involves the large intestine." ; rdfs:subClassOf . ordo:Orphanet_35698 a rdfs:Class ; rdfs:label "Mitochondrial DNA depletion syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_104013 , ordo:Orphanet_206966 , ordo:Orphanet_352456 , ordo:Orphanet_98695 . a rdfs:Class ; rdfs:label "transient congenital hypothyroidism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_442 . ordo:Orphanet_331220 a rdfs:Class ; rdfs:label "Immunodeficiency due to absence of thymus" ; rdfs:subClassOf ordo:Orphanet_331217 , . a rdfs:Class ; rdfs:label "thyroid gland adenocarcinoma" ; rdfs:comment "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)." ; rdfs:subClassOf , . ordo:Orphanet_202948 a rdfs:Class ; rdfs:label "Syndromic microphthalmia" ; rdfs:comment "A microphthalmia that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_98555 , , . a rdfs:Class ; rdfs:label "autoimmune disease of endocrine system" ; rdfs:comment "A hypersensitivity reaction type II disease that involves the endocrine system." ; rdfs:subClassOf , . ordo:Orphanet_665 a rdfs:Class ; rdfs:label "Albright hereditary osteodystrophy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183472 , ordo:Orphanet_69028 , . ordo:Orphanet_90642 a rdfs:Class ; rdfs:label "Syndromic genetic deafness" ; rdfs:subClassOf ordo:Orphanet_96210 , , , , . ordo:Orphanet_42642 a rdfs:Class ; rdfs:label "PFAPA syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_290839 , ordo:Orphanet_324924 , ordo:Orphanet_377788 , , . ordo:Orphanet_217604 a rdfs:Class ; rdfs:label "Dilated cardiomyopathy"@en ; rdfs:subClassOf ordo:Orphanet_167848 . ordo:Orphanet_83469 a rdfs:Class ; rdfs:label "Desmoplastic small round cell tumor"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98604 a rdfs:Class ; rdfs:label "Congenital alacrima" ; rdfs:subClassOf ordo:Orphanet_98603 . ordo:Orphanet_263714 a rdfs:Class ; rdfs:label "X chromosome number anomaly" ; rdfs:subClassOf ordo:Orphanet_98156 . a rdfs:Class ; rdfs:label "rare odontologic disease" ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "unexplained periodic fever syndrome" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "metabolic neurotransmission anomaly with epilepsy" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "patient" ; rdfs:comment "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 ]" ; rdfs:subClassOf . a rdf:Property ; rdfs:label "has creator"@en ; rdfs:domain ; rdfs:range ; rdfs:subPropertyOf . ordo:Orphanet_36426 a rdfs:Class ; rdfs:label "Stevens-Johnson syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377796 . ordo:Orphanet_90783 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to testosterone synthesis defect" ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_325357 , . ordo:Orphanet_108993 a rdfs:Class ; rdfs:label "Non-syndromic respiratory or mediastinal malformation" ; rdfs:comment "A respiratory or mediastinal malformation that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183554 . ordo:Orphanet_147 a rdfs:Class ; rdfs:label "Carbamoyl-phosphate synthase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79167 . a rdfs:Class ; rdfs:label "uterovaginal malformation" ; rdfs:subClassOf . ordo:Orphanet_160 a rdfs:Class ; rdfs:label "Castleman disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "glaucoma" ; rdfs:comment "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." ; rdfs:subClassOf . ordo:Orphanet_79207 a rdfs:Class ; rdfs:label "Disorder of lysosomal amino acid transport" ; rdfs:subClassOf ordo:Orphanet_68366 . a rdfs:Class ; rdfs:label "Genetic Variation" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_79215 a rdfs:Class ; rdfs:label "Oligosaccharidosis" ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_309279 , ordo:Orphanet_79161 . a rdfs:Class ; rdfs:label "acquired metabolic disease" ; rdfs:comment "An instance of metabolic disease that is acquired during the lifetime of the individual." ; rdfs:subClassOf . ordo:Orphanet_56970 a rdfs:Class ; rdfs:label "Human prion disease"@en ; rdfs:subClassOf ordo:Orphanet_98534 . ordo:Orphanet_98543 a rdfs:Class ; rdfs:label "Metabolic disease with dementia" ; rdfs:subClassOf ordo:Orphanet_158124 , ordo:Orphanet_68367 , ordo:Orphanet_89043 . a rdfs:Class ; rdfs:label "disease of retroperitoneum" ; rdfs:comment "A disease or disorder that involves the retroperitoneal space." ; rdfs:subClassOf . ordo:Orphanet_314585 a rdfs:Class ; rdfs:label "15q overgrowth syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_262950 , ordo:Orphanet_377789 , , , , . a rdfs:Class ; rdfs:label "perceptual disorders" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_371200 a rdfs:Class ; rdfs:label "Congenital disorder of glycosylation with skin involvement" ; rdfs:subClassOf ordo:Orphanet_137 , ordo:Orphanet_79387 . a rdfs:Class ; rdfs:label "Italy" . ordo:Orphanet_314786 a rdfs:Class ; rdfs:label "Silent pituitary adenoma"@en ; rdfs:subClassOf ordo:Orphanet_377797 . ordo:Orphanet_1505 a rdfs:Class ; rdfs:label "Short rib-polydactyly syndrome" ; rdfs:comment "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." ; rdfs:subClassOf ordo:Orphanet_93426 , , . ordo:Orphanet_1164 a rdfs:Class ; rdfs:label "Allergic bronchopulmonary aspergillosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_1880 a rdfs:Class ; rdfs:label "Ebstein malformation"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_317419 a rdfs:Class ; rdfs:label "T-B- severe combined immunodeficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183660 . ordo:Orphanet_607 a rdfs:Class ; rdfs:label "Nemaline myopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_97245 , . a rdfs:Class ; rdfs:label "EJP-RD"@en . a rdfs:Class ; rdfs:label "Sporadic" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_400008 a rdfs:Class ; rdfs:label "Rare genetic female infertility" ; rdfs:subClassOf ordo:Orphanet_275742 , . ordo:Orphanet_79189 a rdfs:Class ; rdfs:label "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_207018 , ordo:Orphanet_68356 , ordo:Orphanet_68373 , ordo:Orphanet_68385 , , . a rdfs:Class ; rdfs:label "iron metabolism disease" ; rdfs:comment "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)" ; rdfs:subClassOf . ordo:Orphanet_90038 a rdfs:Class ; rdfs:label "Typical hemolytic-uremic syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_314790 a rdfs:Class ; rdfs:label "Null pituitary adenoma"@en ; rdfs:subClassOf ordo:Orphanet_377797 . ordo:Orphanet_51636 a rdfs:Class ; rdfs:label "WHIM syndrome" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_331184 , ordo:Orphanet_331193 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "disease with Cushing syndrome as a major feature" ; rdfs:comment "A disease in which Cushing syndrome is a major feature." ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare hematologic disease" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_228215 a rdfs:Class ; rdfs:label "Genetic dermis elastic tissue disorder" ; rdfs:subClassOf ordo:Orphanet_183472 , ordo:Orphanet_79378 , . a rdfs:Class ; rdfs:label "Thalassemia" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_49382 a rdfs:Class ; rdfs:label "Achromatopsia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98620 , ordo:Orphanet_98658 . a rdfs:Class ; rdfs:label "vascular cancer" ; rdfs:comment "A malignant neoplasm arising from the blood vessels." ; rdfs:subClassOf , . ordo:Orphanet_68381 a rdfs:Class ; rdfs:label "Neuromuscular disease"@en ; rdfs:subClassOf ordo:Orphanet_98006 . a rdfs:Class ; rdfs:label "male reproductive system neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "nephrotic syndrome" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "autoimmune disease of the nervous system" ; rdfs:comment "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." ; rdfs:subClassOf , . ordo:Orphanet_209030 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of protein O-mannosyltransferase 1" ; rdfs:subClassOf ordo:Orphanet_207113 . ordo:Orphanet_98576 a rdfs:Class ; rdfs:label "Malposition of external canthus" ; rdfs:subClassOf ordo:Orphanet_98572 . ordo:Orphanet_3467 a rdfs:Class ; rdfs:label "Hereditary xanthinuria" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79191 , ordo:Orphanet_93593 , . ordo:Orphanet_264704 a rdfs:Class ; rdfs:label "Secondary interstitial lung disease specific to childhood associated with a connective tissue disease"@en ; rdfs:subClassOf ordo:Orphanet_264699 . ordo:Orphanet_519329 a rdfs:Class ; rdfs:label "Rare disorder involving multiple structures of the eye"@en ; rdfs:subClassOf ordo:Orphanet_520814 . ordo:Orphanet_436159 a rdfs:Class ; rdfs:label "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98374 a rdfs:Class ; rdfs:label "Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder" ; rdfs:subClassOf ordo:Orphanet_68367 , ordo:Orphanet_98369 . ordo:Orphanet_93430 a rdfs:Class ; rdfs:label "Multiple metaphyseal dysplasia" ; rdfs:subClassOf ordo:Orphanet_364526 . ordo:Orphanet_1896 a rdfs:Class ; rdfs:label "EEC syndrome" ; rdfs:comment "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156237 , ordo:Orphanet_377789 , ordo:Orphanet_404574 , ordo:Orphanet_93547 , ordo:Orphanet_98569 , ordo:Orphanet_98609 , . ordo:Orphanet_165655 a rdfs:Class ; rdfs:label "Genetic intestinal disease" ; rdfs:subClassOf ordo:Orphanet_165652 , . ordo:Orphanet_169105 a rdfs:Class ; rdfs:label "Good syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "autosomal recessive disease" ; rdfs:comment "Autosomal recessive form of disease." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Telephone Number" ; rdfs:comment "A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network." ; rdfs:subClassOf . ordo:Orphanet_307052 a rdfs:Class ; rdfs:label "Rare genetic parkinsonian disorder" ; rdfs:subClassOf ordo:Orphanet_183521 . ordo:Orphanet_69063 a rdfs:Class ; rdfs:label "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98878 a rdfs:Class ; rdfs:label "Hemophilia A" ; rdfs:comment "Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_448 , , . ordo:Orphanet_220497 a rdfs:Class ; rdfs:label "Joubert syndrome with renal defect" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_475 , ordo:Orphanet_93587 , . a rdfs:Class ; rdfs:label "herpes simplex infectious disease" ; rdfs:comment "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.)" ; rdfs:subClassOf . ordo:Orphanet_98701 a rdfs:Class ; rdfs:label "Phakomatosis with eye involvement" ; rdfs:subClassOf ordo:Orphanet_98696 , . a rdfs:Class ; rdfs:label "inborn vitamin B12 deficiency (disease)" ; rdfs:comment "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement." ; rdfs:subClassOf , . ordo:Orphanet_657 a rdfs:Class ; rdfs:label "Congenital isolated hyperinsulinism" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_276525 , ordo:Orphanet_93460 , . ordo:Orphanet_60 a rdfs:Class ; rdfs:label "Alpha-1-antitrypsin deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_156610 , ordo:Orphanet_377788 , ordo:Orphanet_91088 , ordo:Orphanet_93593 , , , . ordo:Orphanet_98571 a rdfs:Class ; rdfs:label "Secondary ectropion" ; rdfs:subClassOf ordo:Orphanet_519268 . ordo:Orphanet_276621 a rdfs:Class ; rdfs:label "Sporadic pheochromocytoma/secreting paraganglioma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Communication" ; rdfs:comment "The exchange of information between objects, people, or groups." ; rdfs:subClassOf . ordo:Orphanet_26106 a rdfs:Class ; rdfs:label "Familial gastric cancer" ; rdfs:subClassOf ordo:Orphanet_165658 , ordo:Orphanet_271835 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "European Registry for Rare Endocrine Conditions" ; rdfs:comment "To register core data of rare endocrine conditions covered by Endo-ERN" ; rdfs:subClassOf . ordo:Orphanet_308407 a rdfs:Class ; rdfs:label "Disorder of beta and omega amino acid metabolism" ; rdfs:subClassOf ordo:Orphanet_79062 . a rdfs:Class ; rdfs:label "region" ; rdfs:subClassOf . ordo:Orphanet_226 a rdfs:Class ; rdfs:label "Dihydropteridine reductase deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_238583 , ordo:Orphanet_377796 , , . ordo:Orphanet_325118 a rdfs:Class ; rdfs:label "46,XY disorder of gonadal development" ; rdfs:subClassOf ordo:Orphanet_325706 , ordo:Orphanet_98085 . a rdfs:Class ; rdfs:label "anophthalmia-microphthalmia syndrome" ; rdfs:subClassOf ordo:Orphanet_98554 . ordo:Orphanet_431149 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to OX40 deficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Physician" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_284385 a rdfs:Class ; rdfs:label "Familial intrahepatic cholestasis" ; rdfs:comment "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_156607 , ordo:Orphanet_68367 , . a rdfs:Class ; rdfs:label "other metabolic disease with epilepsy" ; rdfs:comment "Editor note: consider merging" ; rdfs:subClassOf . ordo:Orphanet_94080 a rdfs:Class ; rdfs:label "Non-functioning paraganglioma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_71859 a rdfs:Class ; rdfs:label "Rare genetic neurological disorder" ; rdfs:comment "An instance of nervous system disease that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_98053 , , . ordo:Orphanet_108971 a rdfs:Class ; rdfs:label "Non-syndromic visceral malformation" ; rdfs:subClassOf ordo:Orphanet_183548 . ordo:Orphanet_71862 a rdfs:Class ; rdfs:label "Retinal dystrophy" ; rdfs:comment "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_519315 , ordo:Orphanet_522572 , ordo:Orphanet_98657 , . ordo:Orphanet_166481 a rdfs:Class ; rdfs:label "Metabolic diseases with epilepsy"@en ; rdfs:subClassOf ordo:Orphanet_101998 . a rdfs:Class ; rdfs:label "46,XX disorder of sex development induced by androgens excess" ; rdfs:subClassOf ordo:Orphanet_325665 , ordo:Orphanet_325697 . ordo:Orphanet_359 a rdfs:Class ; rdfs:label "Hereditary glaucoma" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183557 , ordo:Orphanet_522578 , . ordo:Orphanet_88993 a rdfs:Class ; rdfs:label "Esophageal malformation" ; rdfs:subClassOf ordo:Orphanet_183545 , . a rdfs:Class ; rdfs:label "Moldova" . ordo:Orphanet_330197 a rdfs:Class ; rdfs:label "Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability" ; rdfs:subClassOf ordo:Orphanet_183533 , ordo:Orphanet_71859 , , . ordo:Orphanet_478 a rdfs:Class ; rdfs:label "Kallmann syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_238666 , ordo:Orphanet_377788 , . ordo:Orphanet_307055 a rdfs:Class ; rdfs:label "Rare parkinsonian syndrome due to genetic neurodegenerative disease" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183500 , ordo:Orphanet_307052 , . ordo:Orphanet_94145 a rdfs:Class ; rdfs:label "Autosomal dominant cerebellar ataxia type 1" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_99 . a rdfs:Class ; rdfs:label "Father" ; rdfs:comment "A male parent." ; rdfs:subClassOf , . ordo:Orphanet_180062 a rdfs:Class ; rdfs:label "Uterovaginal malformation"@en ; rdfs:subClassOf ordo:Orphanet_96344 . ordo:Orphanet_98085 a rdfs:Class ; rdfs:label "46,XY disorder of sex development"@en ; rdfs:subClassOf ordo:Orphanet_90771 . ordo:Orphanet_319535 a rdfs:Class ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_96333 a rdfs:Class ; rdfs:label "Rare otorhinolaryngological malformation" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183583 , , . ordo:Orphanet_98554 a rdfs:Class ; rdfs:label "Major induction processes eye anomaly" ; rdfs:subClassOf ordo:ObsoleteClass , ordo:Orphanet_183557 . ordo:Orphanet_2701 a rdfs:Class ; rdfs:label "Noonan syndrome-like disorder with loose anagen hair" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_168 , ordo:Orphanet_330197 , ordo:Orphanet_377789 , ordo:Orphanet_98733 , . ordo:Orphanet_156237 a rdfs:Class ; rdfs:label "Syndrome or malformation associated with head and neck malformations" ; rdfs:subClassOf ordo:Orphanet_155832 , ordo:Orphanet_68329 , ordo:Orphanet_96333 , ordo:Orphanet_98036 , . ordo:Orphanet_93448 a rdfs:Class ; rdfs:label "Lysosomal storage disease with skeletal involvement" ; rdfs:subClassOf ordo:Orphanet_183524 , ordo:Orphanet_68366 . ordo:Orphanet_71273 a rdfs:Class ; rdfs:label "Renal nutcracker syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "chronic obstructive pulmonary disease" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_101992 a rdfs:Class ; rdfs:label "Immunodeficiency due to a complement cascade protein anomaly" ; rdfs:comment "Editor note: consider merge, see https://docs.google.com/document/d/1wNW8wypaeo7fuBVfeplkD4RQ9-kuEQl0O9U5PdLintE/edit#" ; rdfs:subClassOf ordo:Orphanet_101988 . ordo:Orphanet_209193 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of selenoprotein N1" ; rdfs:subClassOf ordo:Orphanet_207049 . ordo:Orphanet_98658 a rdfs:Class ; rdfs:label "Color-vision disease" ; rdfs:comment "The absence of or defect in the perception of colors." ; rdfs:subClassOf ordo:Orphanet_98657 , . ordo:Orphanet_178461 a rdfs:Class ; rdfs:label "X-linked myopathy with postural muscle atrophy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_261 . a rdfs:Class ; rdfs:label "respiratory system neoplasm" ; rdfs:comment "A tumor (abnormal growth of tissue) of the respiratory system." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Unit of Time" ; rdfs:comment "An indication of the type of unit of measure being used to express a time." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Ireland" . ordo:Orphanet_217619 a rdfs:Class ; rdfs:label "Syndrome associated with dilated cardiomyopathy" ; rdfs:subClassOf ordo:Orphanet_217607 . ordo:Orphanet_399 a rdfs:Class ; rdfs:label "Huntington disease" ; rdfs:comment "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." ; rdfs:subClassOf ordo:Orphanet_276058 , ordo:Orphanet_306719 , ordo:Orphanet_377788 , . ordo:Orphanet_39041 a rdfs:Class ; rdfs:label "Omenn syndrome" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183660 , ordo:Orphanet_377788 . ordo:Orphanet_325061 a rdfs:Class ; rdfs:label "46,XX disorder of sex development induced by fetoplacental androgens excess" ; rdfs:subClassOf . ordo:Orphanet_181405 a rdfs:Class ; rdfs:label "Rare hypoparathyroidism"@en ; rdfs:subClassOf ordo:Orphanet_68415 . a rdfs:Class ; rdfs:label "Name" ; rdfs:comment "The words or language units by which a thing is known." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "coagulation protein disease" ; rdfs:comment "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "colonic neoplasm" ; rdfs:comment "Tumors or cancer of the COLON." ; rdfs:subClassOf , . ordo:Orphanet_100088 a rdfs:Class ; rdfs:label "Thyroid carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_100087 . a rdfs:Class ; rdfs:label "nerve sheath neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_79643 a rdfs:Class ; rdfs:label "Autosomal recessive hyperinsulinism due to SUR1 deficiency" ; rdfs:subClassOf ordo:Orphanet_165988 , ordo:Orphanet_377788 , . ordo:Orphanet_79430 a rdfs:Class ; rdfs:label "Hermansky-Pudlak syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_284811 , ordo:Orphanet_309340 , ordo:Orphanet_98456 , . ordo:Orphanet_522538 a rdfs:Class ; rdfs:label "Rare genetic disorder of the anterior segment of the eye"@en ; rdfs:subClassOf ordo:Orphanet_522504 . ordo:Orphanet_638 a rdfs:Class ; rdfs:label "Neurofibromatosis-Noonan syndrome" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183466 , ordo:Orphanet_377789 , ordo:Orphanet_98196 , . ordo:Orphanet_169443 a rdfs:Class ; rdfs:label "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells" ; rdfs:subClassOf ordo:Orphanet_101977 . ordo:Orphanet_271853 a rdfs:Class ; rdfs:label "Genetic cardiac anomaly" ; rdfs:subClassOf ordo:Orphanet_183530 , . a rdfs:Class ; rdfs:label "adrenal cortex disease" ; rdfs:comment "A disease involving the adrenal cortex." ; rdfs:subClassOf . ordo:Orphanet_68362 a rdfs:Class ; rdfs:label "Rare vascular disease"@en ; rdfs:subClassOf ordo:Orphanet_98028 . ordo:Orphanet_3002 a rdfs:Class ; rdfs:label "Immune thrombocytopenic purpura"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_36412 a rdfs:Class ; rdfs:label "Hypocomplementemic urticarial vasculitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "conjunctival vascular disease" ; rdfs:comment "A disorder of the vasculature of the cornea." ; rdfs:subClassOf , . ordo:Orphanet_93568 a rdfs:Class ; rdfs:label "Juvenile polymyositis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "hypertrophic cardiomyopathy" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_90060 a rdfs:Class ; rdfs:label "Diffuse alveolar hemorrhage"@en ; rdfs:subClassOf ordo:Orphanet_377793 . ordo:Orphanet_214 a rdfs:Class ; rdfs:label "Cystinuria" ; rdfs:comment "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , ordo:Orphanet_79166 , , , . ordo:Orphanet_2965 a rdfs:Class ; rdfs:label "Prolactinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_261781 a rdfs:Class ; rdfs:label "Partial deletion of chromosome 4" ; rdfs:subClassOf ordo:Orphanet_98142 . a rdfs:Class ; rdfs:label "retinal cell neoplasm" ; rdfs:comment "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma." ; rdfs:subClassOf . ordo:Orphanet_183426 a rdfs:Class ; rdfs:label "Genetic epidermal disorder" ; rdfs:subClassOf ordo:Orphanet_68346 . a rdfs:Class ; rdfs:label "intestinal disease" ; rdfs:comment "A disease that affects the small or large intestine." ; rdfs:subClassOf . ordo:Orphanet_1515 a rdfs:Class ; rdfs:label "Cranioectodermal dysplasia" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_139393 , ordo:Orphanet_1505 , ordo:Orphanet_183592 , ordo:Orphanet_377789 , ordo:Orphanet_79373 , ordo:Orphanet_93547 , , . ordo:Orphanet_33208 a rdfs:Class ; rdfs:label "Idiopathic hypersomnia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "eye neoplasm" ; rdfs:comment "Tumors or cancer of the EYE." ; rdfs:subClassOf , . ordo:Orphanet_91349 a rdfs:Class ; rdfs:label "Non-functioning pituitary adenoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_59315 a rdfs:Class ; rdfs:label "Rhombencephalosynapsis"@en ; rdfs:subClassOf ordo:Orphanet_377789 . ordo:Orphanet_68411 a rdfs:Class ; rdfs:label "Rare bone tumor"@en ; rdfs:subClassOf ordo:Orphanet_93419 , ordo:Orphanet_98057 . a rdfs:Class ; rdfs:label "hemoglobinuria" ; rdfs:comment "A laboratory test result which indicates free hemoglobin in the urine." ; rdfs:subClassOf . ordo:Orphanet_70594 a rdfs:Class ; rdfs:label "Dopa-responsive dystonia due to sepiapterin reductase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_255 , ordo:Orphanet_377788 , ordo:Orphanet_79158 , , . a rdfs:Class ; rdfs:label "Fanconi syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf , , . ordo:Orphanet_79282 a rdfs:Class ; rdfs:label "Methylmalonic acidemia with homocystinuria, type cblC" ; rdfs:comment " 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." ; rdfs:subClassOf ordo:Orphanet_207018 , ordo:Orphanet_26 , ordo:Orphanet_377796 , ordo:Orphanet_98713 . ordo:Orphanet_431272 a rdfs:Class ; rdfs:label "X-linked scapuloperoneal muscular dystrophy"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Emergency Care" ; rdfs:comment "Care necessary to treat acute pain, infection, bleeding, or trauma." ; rdfs:subClassOf . ordo:Orphanet_84 a rdfs:Class ; rdfs:label "Fanconi anemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_183422 , ordo:Orphanet_183466 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_404574 , ordo:Orphanet_68383 , ordo:Orphanet_93614 , , , . ordo:Orphanet_275828 a rdfs:Class ; rdfs:label "Pulmonary arterial hypertension associated with chronic hemolytic anemia"@en ; rdfs:subClassOf ordo:Orphanet_275791 . ordo:Orphanet_94 a rdfs:Class ; rdfs:label "Astrocytoma"@en ; rdfs:subClassOf ordo:Orphanet_182067 . ordo:Orphanet_424 a rdfs:Class ; rdfs:label "Familial hyperthyroidism due to mutations in TSH receptor" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_156629 , ordo:Orphanet_181399 , ordo:Orphanet_377788 . ordo:Orphanet_91347 a rdfs:Class ; rdfs:label "TSH-secreting pituitary adenoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_167 a rdfs:Class ; rdfs:label "Chédiak-Higashi syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183494 , ordo:Orphanet_183500 , ordo:Orphanet_207015 , ordo:Orphanet_284811 , ordo:Orphanet_309340 , ordo:Orphanet_331184 , ordo:Orphanet_331249 , ordo:Orphanet_377788 , ordo:Orphanet_98456 , , . ordo:Orphanet_101957 a rdfs:Class ; rdfs:label "Pituitary deficiency" ; rdfs:comment "Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes" ; rdfs:subClassOf ordo:Orphanet_181384 , ordo:Orphanet_183628 , . ordo:Orphanet_289290 a rdfs:Class ; rdfs:label "Hypermethioninemia encephalopathy due to adenosine kinase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , . ordo:Orphanet_269570 a rdfs:Class ; rdfs:label "Genetic syndrome with a Dandy-Walker malformation as major feature" ; rdfs:subClassOf ordo:Orphanet_269567 . a rdfs:Class ; rdfs:label "childhood electroclinical syndrome" ; rdfs:comment "A electroclinical syndrome that occurs during childhood." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Month" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "transient hypogammaglobulinemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_229720 . a rdfs:Class ; rdfs:label "follicular thyroid carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_903 a rdfs:Class ; rdfs:label "Von Willebrand disease" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68334 , . a rdfs:Class ; rdfs:label "Identifier" ; rdfs:comment "One or more characters used to identify, name, or characterize the nature, properties, or contents of a thing." ; rdfs:subClassOf . ordo:Orphanet_739 a rdfs:Class ; rdfs:label "Prader-Willi syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_181387 , ordo:Orphanet_240371 , ordo:Orphanet_330197 , ordo:Orphanet_377788 , ordo:Orphanet_399846 , ordo:Orphanet_68335 , , , . ordo:Orphanet_294942 a rdfs:Class ; rdfs:label "Postaxial polydactyly of fingers" ; rdfs:subClassOf ordo:ObsoleteClass , ordo:Orphanet_2913 . ordo:Orphanet_745 a rdfs:Class ; rdfs:label "Hereditary thrombophilia due to congenital protein C deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_217454 , ordo:Orphanet_377788 , ordo:Orphanet_68367 , . ordo:Orphanet_29072 a rdfs:Class ; rdfs:label "Hereditary pheochromocytoma-paraganglioma" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183637 , ordo:Orphanet_271847 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "Pharmachild" ; rdfs:comment "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" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "nutritional disorder" ; rdfs:comment "Any condition related to a disturbance between proper intake and utilization of nourishment." ; rdfs:subClassOf . ordo:Orphanet_98454 a rdfs:Class ; rdfs:label "Platelet storage pool disease" ; rdfs:subClassOf ordo:Orphanet_275729 . ordo:Orphanet_420573 a rdfs:Class ; rdfs:label "Severe combined immunodeficiency due to CTPS1 deficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_3329 a rdfs:Class ; rdfs:label "Tibial aplasia - ectrodactyly" ; rdfs:comment "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139039 , ordo:Orphanet_294957 , ordo:Orphanet_377789 , ordo:Orphanet_404574 . a rdfs:Class ; rdfs:label "X-linked dominant disease" ; rdfs:comment "X-linked dominant form of disease." ; rdfs:subClassOf . ordo:Orphanet_558 a rdfs:Class ; rdfs:label "Marfan syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139030 , ordo:Orphanet_284993 , ordo:Orphanet_285014 , ordo:Orphanet_377788 , ordo:Orphanet_98620 , ordo:Orphanet_98623 , ordo:Orphanet_98653 , ordo:Orphanet_98702 , . a rdfs:Class ; rdfs:label "disease of central nervous system or retinal vasculature" ; rdfs:comment "Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "interstitial lung disease specific to childhood" ; rdfs:comment "A interstitial lung disease that occurs during childhood." ; rdfs:subClassOf . ordo:Orphanet_422519 a rdfs:Class ; rdfs:label "3-Phosphoglycerate dehydrogenase deficiency"@en ; rdfs:subClassOf ordo:Orphanet_35705 . ordo:Orphanet_2911 a rdfs:Class ; rdfs:label "Poland syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_69028 , . ordo:Orphanet_423384 a rdfs:Class ; rdfs:label "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "proteostasis deficiencies" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_284993 a rdfs:Class ; rdfs:label "Marfan and Marfan-related disorder" ; rdfs:subClassOf ordo:Orphanet_271870 , . ordo:Orphanet_313846 a rdfs:Class ; rdfs:label "Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_183478 , ordo:Orphanet_377788 , , . ordo:Orphanet_727 a rdfs:Class ; rdfs:label "Microscopic polyangiitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98534 a rdfs:Class ; rdfs:label "Neurodegenerative disease with dementia"@en ; rdfs:subClassOf ordo:Orphanet_182070 , ordo:Orphanet_89043 . ordo:Orphanet_306765 a rdfs:Class ; rdfs:label "Motor stereotypies" ; rdfs:subClassOf ordo:Orphanet_183521 . a rdfs:Class ; rdfs:label "Moyamoya syndrome" ; rdfs:subClassOf , ordo:Orphanet_183503 . ordo:Orphanet_364559 a rdfs:Class ; rdfs:label "Dysostosis"@en ; rdfs:subClassOf ordo:Orphanet_139012 , ordo:Orphanet_93419 . a rdfs:Class ; rdfs:label "secondary interstitial lung disease specific to childhood associated with a granulomatous disease" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare hemorrhagic disorder due to a qualitative platelet defect" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_71202 . a rdfs:Class ; rdfs:label "Qualifier" ; rdfs:comment "A term that helps define and render a concept unique." ; rdfs:subClassOf . ordo:Orphanet_331235 a rdfs:Class ; rdfs:label "Selective IgM deficiency" ; rdfs:comment "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 ." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_331232 , ordo:Orphanet_377788 , . ordo:Orphanet_199310 a rdfs:Class ; rdfs:label "Tetragametic chimerism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_263749 , ordo:Orphanet_325546 , ordo:Orphanet_325638 , ordo:Orphanet_377789 . ordo:Orphanet_166311 a rdfs:Class ; rdfs:label "Benign partial infantile seizures" ; rdfs:subClassOf ordo:Orphanet_98258 . ordo:Orphanet_307058 a rdfs:Class ; rdfs:label "Miscellaneous movement disorder due to genetic neurodegenerative disease" ; rdfs:subClassOf ordo:Orphanet_183500 , ordo:Orphanet_183521 , . ordo:Orphanet_150 a rdfs:Class ; rdfs:label "Nasopharyngeal carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "sensory system cancer" ; rdfs:comment "A malignant neoplasm involving the sensory system" ; rdfs:subClassOf , . ordo:Orphanet_45448 a rdfs:Class ; rdfs:label "Miyoshi myopathy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_206653 , ordo:Orphanet_207073 , ordo:Orphanet_377788 . ordo:Orphanet_597 a rdfs:Class ; rdfs:label "Central core disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_172976 , ordo:Orphanet_377788 , ordo:Orphanet_593 . a rdfs:Class ; rdfs:label "reproductive system disease" ; rdfs:comment "A disease involving the reproductive system." ; rdfs:subClassOf . ordo:Orphanet_189466 a rdfs:Class ; rdfs:label "Familial isolated hypoparathyroidism due to impaired PTH secretion" ; rdfs:subClassOf ordo:Orphanet_377796 , . ordo:Orphanet_208596 a rdfs:Class ; rdfs:label "Genetic hyperparathyroidism" ; rdfs:comment "Genetic hyperparathyroidism." ; rdfs:subClassOf ordo:Orphanet_183634 , . ordo:Orphanet_2138 a rdfs:Class ; rdfs:label "46,XX ovotesticular disorder of sex development" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_325055 , ordo:Orphanet_377789 , ordo:Orphanet_399877 , ordo:Orphanet_98074 . a rdfs:Class ; rdfs:label "Biological Brother" ; rdfs:comment "A male who shares with his sibling the genetic makeup inherited from one or both of their shared biological parents." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "skin neoplasm" ; rdfs:comment "Tumors or cancer of the SKIN." ; rdfs:subClassOf , . ordo:Orphanet_98681 a rdfs:Class ; rdfs:label "Rare strabismus and restriction syndrome" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_98691 . ordo:Orphanet_221 a rdfs:Class ; rdfs:label "Dermatomyositis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_569 a rdfs:Class ; rdfs:label "Familial or sporadic hemiplegic migraine" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_166311 , ordo:Orphanet_183503 , ordo:Orphanet_183509 , ordo:Orphanet_377788 . ordo:Orphanet_294990 a rdfs:Class ; rdfs:label "Congenital absence/hypoplasia of fingers excluding thumb" ; rdfs:subClassOf ordo:Orphanet_294931 . a rdfs:Class ; rdfs:label "biobank"@en ; rdfs:comment """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 ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "metal transport or utilization disorder with epilepsy" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Drug accession" ; rdfs:subClassOf . ordo:Orphanet_716 a rdfs:Class ; rdfs:label "Phenylketonuria" ; rdfs:comment "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." ; rdfs:subClassOf ordo:Orphanet_166472 , ordo:Orphanet_284814 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , , . ordo:Orphanet_2467 a rdfs:Class ; rdfs:label "Systemic mastocytosis"@en ; rdfs:subClassOf ordo:Orphanet_98292 . ordo:Orphanet_3318 a rdfs:Class ; rdfs:label "Essential thrombocythemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_900 a rdfs:Class ; rdfs:label "Granulomatosis with polyangiitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "muscular channelopathy" ; rdfs:comment "A channelopathy that involves the muscle tissue." ; rdfs:subClassOf , , . ordo:Orphanet_98023 a rdfs:Class ; rdfs:label "Rare systemic or rheumatologic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . a rdfs:Class ; rdfs:label "renal tubule disease" ; rdfs:comment "A disease that involves the renal tubule." ; rdfs:subClassOf . ordo:Orphanet_206970 a rdfs:Class ; rdfs:label "Myotonic syndrome" ; rdfs:subClassOf ordo:Orphanet_206634 , . a rdfs:Class ; rdfs:label "urea cycle disorder" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "parkinsonian syndrome due to neurodegenerative disease" ; rdfs:comment "Editor note: TODO checkme" ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Half-brother with Father as Common Parent" ; rdfs:comment "A male sibling who shares the genetic makeup inherited from only the biological father." ; rdfs:subClassOf , . ordo:Orphanet_330206 a rdfs:Class ; rdfs:label "Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability" ; rdfs:comment "An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183533 , . ordo:Orphanet_169090 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to CRAC channel dysfunction" ; rdfs:comment "deficiency (see these terms)." ; rdfs:subClassOf ordo:Orphanet_101972 , ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "secondary interstitial lung disease in childhood and adulthood" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "complement factor H deficiency" ; rdfs:subClassOf ordo:Orphanet_2134 , ordo:Orphanet_329918 . a rdfs:Class ; rdfs:label "inborn disorder of aspartate family metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process." ; rdfs:subClassOf . ordo:Orphanet_101944 a rdfs:Class ; rdfs:label "Rare pulmonary disease"@en ; rdfs:subClassOf ordo:Orphanet_97955 . ordo:Orphanet_263746 a rdfs:Class ; rdfs:label "Y chromosome number anomaly" ; rdfs:subClassOf ordo:Orphanet_98156 . ordo:Orphanet_18 a rdfs:Class ; rdfs:label "Distal renal tubular acidosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_314822 , ordo:Orphanet_377788 . ordo:Orphanet_93436 a rdfs:Class ; rdfs:label "Acromelic dysplasia" ; rdfs:subClassOf ordo:Orphanet_364526 . ordo:Orphanet_811 a rdfs:Class ; rdfs:label "Shwachman-Diamond syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_165661 , ordo:Orphanet_183422 , ordo:Orphanet_183681 , ordo:Orphanet_377788 , ordo:Orphanet_68383 , ordo:Orphanet_93430 , , , . ordo:Orphanet_124 a rdfs:Class ; rdfs:label "Blackfan-Diamond anemia" ; rdfs:comment "Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_139039 , ordo:Orphanet_183422 , ordo:Orphanet_377788 , ordo:Orphanet_68383 , ordo:Orphanet_79191 , , , . ordo:Orphanet_183 a rdfs:Class ; rdfs:label "Eosinophilic granulomatosis with polyangiitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_79163 a rdfs:Class ; rdfs:label "Classic organic aciduria" ; rdfs:subClassOf ordo:Orphanet_289899 . ordo:Orphanet_1849 a rdfs:Class ; rdfs:label "Infundibulopelvic stenosis - multicystic kidney" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_93547 . ordo:Orphanet_98132 a rdfs:Class ; rdfs:label "Partial autosomal trisomy/tetrasomy" ; rdfs:subClassOf ordo:Orphanet_98130 . a rdfs:Class ; rdfs:label "tracheal disease" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "coloboma" ; rdfs:comment "An abnormality in which a part of a structure in one or both eyes is missing." ; rdfs:subClassOf . ordo:Orphanet_294931 a rdfs:Class ; rdfs:label "Adactyly of hand" ; rdfs:subClassOf ordo:Orphanet_294929 . ordo:Orphanet_524 a rdfs:Class ; rdfs:label "Li-Fraumeni syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_377788 , ordo:Orphanet_71859 , , , . a rdfs:Class ; rdfs:label "Conjunctival Disorder" ; rdfs:comment "Any disorder of the conjunctiva. " ; rdfs:subClassOf . ordo:Orphanet_397587 a rdfs:Class ; rdfs:label "Deep dermatophytosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_399185 a rdfs:Class ; rdfs:label "Rare hereditary disease with avascular necrosis" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_399169 , ordo:Orphanet_399388 , . ordo:Orphanet_1333 a rdfs:Class ; rdfs:label "Familial pancreatic carcinoma" ; rdfs:comment "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives." ; rdfs:subClassOf ordo:Orphanet_165661 , ordo:Orphanet_377788 , . ordo:Orphanet_108985 a rdfs:Class ; rdfs:label "Non-syndromic developmental defect of the eye" ; rdfs:comment "A developmental defect of the eye that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183557 . a rdfs:Class ; rdfs:label "mendelian susceptibility to mycobacterial diseases due to a partial deficiency" ; rdfs:subClassOf ordo:Orphanet_748 . ordo:Orphanet_183548 a rdfs:Class ; rdfs:label "Genetic visceral malformation of the liver, biliary tract, pancreas or spleen" ; rdfs:subClassOf ordo:Orphanet_183530 , . a rdfs:Class ; rdfs:label "epidermal appendage tumor" ; rdfs:comment "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." ; rdfs:subClassOf , . ordo:Orphanet_98710 a rdfs:Class ; rdfs:label "Metabolic disease associated with ocular features" ; rdfs:subClassOf ordo:Orphanet_101435 . ordo:Orphanet_95495 a rdfs:Class ; rdfs:label "Disease associated with non-acquired combined pituitary hormone deficiency" ; rdfs:subClassOf ordo:Orphanet_467 . a rdfs:Class ; rdfs:label "European Rare Vascular Anomalies Registry" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_377794 a rdfs:Class ; rdfs:label "group of disorders"@en ; rdfs:subClassOf ordo:Orphanet_C001 . ordo:Orphanet_364526 a rdfs:Class ; rdfs:label "Primary bone dysplasia" ; rdfs:comment "Editor note: ORDO has these as genetic, but some forms may not be genetic - check this" ; rdfs:subClassOf ordo:Orphanet_139012 , ordo:Orphanet_183524 , ordo:Orphanet_404584 , ordo:Orphanet_93419 , . ordo:Orphanet_183463 a rdfs:Class ; rdfs:label "Genetic pigmentation anomaly of the skin" ; rdfs:comment "A pigmentation disease that involves the zone of skin." ; rdfs:subClassOf ordo:Orphanet_68346 , , . a rdfs:Class ; rdfs:label "Sibling" ; rdfs:comment "A person's brother or sister." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Biological Sister" ; rdfs:comment "A female who shares with her sibling the genetic makeup inherited from one or both of their shared biological parents." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Bulgaria" . ordo:Orphanet_2982 a rdfs:Class ; rdfs:label "46,XX disorder of sex development"@en ; rdfs:subClassOf ordo:Orphanet_90771 . ordo:Orphanet_543 a rdfs:Class ; rdfs:label "Burkitt lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_457062 a rdfs:Class ; rdfs:label "Pseudohypoparathyroidism without Albright hereditary osteodystrophy"@en ; rdfs:subClassOf ordo:Orphanet_97593 . a rdfs:Class ; rdfs:label "Norway" . a rdfs:Class ; rdfs:label "leukocyte disease" ; rdfs:comment "A disease involving leukocytes." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "Montenegro" . ordo:Orphanet_250908 a rdfs:Class ; rdfs:label "Rare neoplastic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_622 a rdfs:Class ; rdfs:label "Homocystinuria without methylmalonic aciduria" ; rdfs:comment "v1)." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , ordo:Orphanet_79171 , ordo:Orphanet_98396 , , . a rdfs:Class ; rdfs:label "Information" ; rdfs:comment "Knowledge derived from study, experience, or instruction that has been gathered or received by communication." ; rdfs:subClassOf . ordo:Orphanet_352298 a rdfs:Class ; rdfs:label "Genetic muscular channelopathy" ; rdfs:subClassOf ordo:Orphanet_183497 . a rdfs:Class ; rdfs:label "clinical temporal measurement" ; rdfs:comment "A temporal measurement related to disease progression" ; rdfs:subClassOf . ordo:Orphanet_466066 a rdfs:Class ; rdfs:label "Genetic hemoglobinopathy"@en ; rdfs:subClassOf ordo:Orphanet_183651 . a rdfs:Class ; rdfs:label "vitamin metabolic disorder" ; rdfs:comment "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." ; rdfs:subClassOf , ordo:Orphanet_68367 . a rdfs:Class ; rdfs:label "disease by cellular process disrupted" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "systemic diseases with panuveitis" ; rdfs:subClassOf . ordo:Orphanet_49827 a rdfs:Class ; rdfs:label "Thiamine-responsive megaloblastic anemia syndrome" ; rdfs:comment "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_183625 , ordo:Orphanet_377788 , ordo:Orphanet_90642 , ordo:Orphanet_98362 , ordo:Orphanet_98415 , , , , . a rdfs:Class ; rdfs:label "Organismal Process" ; rdfs:comment "A biologic function, activity, or process involving either specialized organ functions, individual organs, organ systems, body parts, or whole organisms." ; rdfs:subClassOf . ordo:Orphanet_98059 a rdfs:Class ; rdfs:label "Rare digestive tumor"@en ; rdfs:subClassOf ordo:Orphanet_98057 . a rdfs:Class ; rdfs:label "male reproductive system disease" ; rdfs:comment "A disease involving the male reproductive system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "retinal degeneration" ; rdfs:comment "Degeneration of the retina." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "syndromic uterovaginal malformation" ; rdfs:comment "A uterovaginal malformation that is part of a larger syndrome." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "chronic disease" ; rdfs:comment "A disease persisting for a long time or constantly recurring." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "other genetic dermis disorder" ; rdfs:comment "Editor note: consider obsoleting" ; rdfs:subClassOf . ordo:Orphanet_276575 a rdfs:Class ; rdfs:label "Autosomal dominant hyperinsulinism due to SUR1 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_377788 , . ordo:Orphanet_3057 a rdfs:Class ; rdfs:label "Monoamine oxidase A deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_182076 , ordo:Orphanet_377788 , ordo:Orphanet_79158 , ordo:Orphanet_79169 , , . ordo:Orphanet_269 a rdfs:Class ; rdfs:label "Facioscapulohumeral dystrophy" ; rdfs:comment "Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." ; rdfs:subClassOf ordo:Orphanet_206644 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Second Degree Relative" ; rdfs:comment "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)" ; rdfs:subClassOf . ordo:Orphanet_99 a rdfs:Class ; rdfs:label "Autosomal dominant cerebellar ataxia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183518 , ordo:Orphanet_98540 , ordo:Orphanet_98693 , , , , . ordo:Orphanet_99885 a rdfs:Class ; rdfs:label "Permanent neonatal diabetes mellitus" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_224 . ordo:Orphanet_33111 a rdfs:Class ; rdfs:label "Granulomatous slack skin"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "disease of membrane bound organelle" ; rdfs:subClassOf . ordo:Orphanet_314777 a rdfs:Class ; rdfs:label "Familial isolated pituitary adenoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "lymphatic system disease" ; rdfs:comment "A disease involving the lymphatic part of lymphoid system." ; rdfs:subClassOf . ordo:Orphanet_182040 a rdfs:Class ; rdfs:label "Medullar aplasia" ; rdfs:subClassOf ordo:Orphanet_183651 . ordo:Orphanet_477857 a rdfs:Class ; rdfs:label "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "France" . ordo:Orphanet_213 a rdfs:Class ; rdfs:label "Cystinosis" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79207 , ordo:Orphanet_93593 , ordo:Orphanet_98666 , ordo:Orphanet_98711 , ordo:Orphanet_98713 . ordo:Orphanet_183460 a rdfs:Class ; rdfs:label "Genetic sebaceous gland anomaly" ; rdfs:comment "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183447 , . ordo:Orphanet_98562 a rdfs:Class ; rdfs:label "Cryptophthalmia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_98561 . a rdfs:Class ; rdfs:label "idiopathic nephrotic syndrome" ; rdfs:comment "Nephrotic syndrome for which no cause has been identified." ; rdfs:subClassOf , ordo:Orphanet_102373 . a rdfs:Class ; rdfs:label "Consent" ; rdfs:comment "Permission to do something." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "prostate cancer" ; rdfs:comment "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." ; rdfs:subClassOf , . ordo:Orphanet_442 a rdfs:Class ; rdfs:label "Congenital hypothyroidism" ; rdfs:comment "Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." ; rdfs:subClassOf ordo:Orphanet_181396 , ordo:Orphanet_90692 , . ordo:Orphanet_294957 a rdfs:Class ; rdfs:label "Dysostosis with combined reduction defects of upper and lower limbs" ; rdfs:subClassOf ordo:Orphanet_404571 , ordo:Orphanet_404577 . ordo:Orphanet_182130 a rdfs:Class ; rdfs:label "Tumor of endocrine glands"@en ; rdfs:subClassOf ordo:Orphanet_98057 . a rdfs:Class ; rdfs:label "purine metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of purine nucleobase metabolic process." ; rdfs:subClassOf . ordo:Orphanet_377788 a rdfs:Class ; rdfs:label "disease"@en ; rdfs:subClassOf ordo:Orphanet_C001 . a rdfs:Class ; rdfs:label "Malignant Pancreatic Neoplasm" ; rdfs:comment "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "calcium metabolic disease" ; rdfs:comment "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "keratinization disease" ; rdfs:subClassOf , . ordo:Orphanet_1018 a rdfs:Class ; rdfs:label "X-linked diffuse leiomyomatosis - Alport syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_263756 , ordo:Orphanet_377788 , ordo:Orphanet_93550 . a rdfs:Class ; rdfs:label "von Willebrand disease (hereditary or acquired)" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare head and neck malformation" ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "complex vascular malformation with associated anomalies" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Relative" ; rdfs:comment "A person related by blood or marriage." ; rdfs:subClassOf . ordo:Orphanet_976 a rdfs:Class ; rdfs:label "Adenine phosphoribosyltransferase deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79191 , ordo:Orphanet_93593 , . ordo:Orphanet_2331 a rdfs:Class ; rdfs:label "Kawasaki disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_165711 a rdfs:Class ; rdfs:label "Rare abdominal surgical disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_363300 a rdfs:Class ; rdfs:label "Genetic intractable diarrhea of infancy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_165655 , . ordo:Orphanet_2909 a rdfs:Class ; rdfs:label "Rothmund-Thomson syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_183490 , ordo:Orphanet_222628 , ordo:Orphanet_363245 , ordo:Orphanet_377788 , ordo:Orphanet_98649 , ordo:Orphanet_98709 , , . a rdfs:Class ; rdfs:label "heart disease" ; rdfs:comment "Pathological conditions involving the HEART including its structural and functional abnormalities." ; rdfs:subClassOf , . ordo:Orphanet_262950 a rdfs:Class ; rdfs:label "Partial duplication of the long arm of chromosome 15" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_98132 . a rdfs:Class ; rdfs:label "partial epilepsy" ; rdfs:comment "A seizure caused by a localized disorder." ; rdfs:subClassOf . ordo:Orphanet_166478 a rdfs:Class ; rdfs:label "Cerebral malformation with epilepsy" ; rdfs:subClassOf ordo:Orphanet_183512 , , . a rdfs:Class ; rdfs:label "rare gynecologic or obstetric disease" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_99898 a rdfs:Class ; rdfs:label "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_319535 , ordo:Orphanet_377788 , . ordo:Orphanet_209024 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase" ; rdfs:subClassOf ordo:Orphanet_207113 . ordo:Orphanet_102 a rdfs:Class ; rdfs:label "Multiple system atrophy"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "transient congenital hypothyroidism due to neonatal factor" ; rdfs:subClassOf . ordo:Orphanet_199642 a rdfs:Class ; rdfs:label "Isolated congenital microcephaly" ; rdfs:subClassOf ordo:Orphanet_269553 , , . ordo:Orphanet_83642 a rdfs:Class ; rdfs:label "Microcytic anemia with liver iron overload" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_309842 , ordo:Orphanet_377788 , ordo:Orphanet_98360 , . ordo:Orphanet_95488 a rdfs:Class ; rdfs:label "Non-acquired pituitary hormone deficiency" ; rdfs:comment "Editor note: consider merging with familial hypopituitarism" ; rdfs:subClassOf ordo:Orphanet_101957 , ordo:Orphanet_156643 , ordo:Orphanet_90692 , , . a rdfs:Class ; rdfs:label "immunodeficiency disease" ; rdfs:comment "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." ; rdfs:subClassOf . ordo:Orphanet_139030 a rdfs:Class ; rdfs:label "Malformation syndrome with connective tissue involvement" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183530 , ordo:Orphanet_93890 , . a rdfs:Class ; rdfs:label "concept" ; rdfs:comment "A concept is term that refers to a generalization of a set of attributes or entities." ; rdfs:subClassOf . ordo:Orphanet_165704 a rdfs:Class ; rdfs:label "Non-syndromic urogenital tract malformation"@en ; rdfs:subClassOf ordo:Orphanet_83001 . ordo:Orphanet_285657 a rdfs:Class ; rdfs:label "Disorder of folate metabolism and transport" ; rdfs:subClassOf ordo:Orphanet_309827 . ordo:Orphanet_94147 a rdfs:Class ; rdfs:label "Spinocerebellar ataxia type 7" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_208508 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "amino acid or protein metabolism disease with epilepsy" ; rdfs:subClassOf . ordo:Orphanet_183678 a rdfs:Class ; rdfs:label "Hermansky-Pudlak syndrome with neutropenia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_331184 , ordo:Orphanet_331249 , ordo:Orphanet_377796 , ordo:Orphanet_79430 , ordo:Orphanet_98666 , . a rdfs:Class ; rdfs:label "primary orthostatic hypotension" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_3222 a rdfs:Class ; rdfs:label "Phosphoribosylpyrophosphate synthetase superactivity" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_182076 , ordo:Orphanet_377788 , ordo:Orphanet_79191 , ordo:Orphanet_93593 , . a rdfs:Class ; rdfs:label "Institutional Professional Consultation" ; rdfs:comment "A patient encounter with a healthcare professional for a medical consultation." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "mesenchymal tumor of small intestine" ; rdfs:subClassOf . ordo:Orphanet_309842 a rdfs:Class ; rdfs:label "Disorder of iron metabolism and transport" ; rdfs:subClassOf ordo:Orphanet_309836 . ordo:Orphanet_363245 a rdfs:Class ; rdfs:label "Genetic progeroid syndrome" ; rdfs:subClassOf ordo:Orphanet_183530 . ordo:Orphanet_79386 a rdfs:Class ; rdfs:label "Rare skin tumor or hamartoma"@en ; rdfs:subClassOf ordo:Orphanet_89826 , ordo:Orphanet_98057 . ordo:Orphanet_68385 a rdfs:Class ; rdfs:label "Neurometabolic disease" ; rdfs:subClassOf ordo:Orphanet_71859 , ordo:Orphanet_98006 , . ordo:Orphanet_183469 a rdfs:Class ; rdfs:label "Genetic hypopigmentation of the skin" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183463 . ordo:Orphanet_247234 a rdfs:Class ; rdfs:label "Sporadic adult-onset ataxia of unknown etiology"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_85 a rdfs:Class ; rdfs:label "Congenital dyserythropoietic anemia" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_293830 , . ordo:Orphanet_839 a rdfs:Class ; rdfs:label "Congenital nephrotic syndrome, Finnish type" ; rdfs:comment "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_97556 . ordo:Orphanet_238613 a rdfs:Class ; rdfs:label "Beckwith-Wiedemann syndrome due to NSD1 mutation" ; rdfs:subClassOf ordo:Orphanet_116 , ordo:Orphanet_377795 . a rdfs:Class ; rdfs:label "thyroid hormone resistance syndrome" ; rdfs:comment "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Instruction Imperative" ; rdfs:subClassOf . ordo:Orphanet_63 a rdfs:Class ; rdfs:label "Alport syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_90642 , ordo:Orphanet_93550 , ordo:Orphanet_98646 , ordo:Orphanet_98655 , . a rdfs:Class ; rdfs:label "Biological Sibling" ; rdfs:comment "A person's brother or sister with whom they share a genetic makeup inherited from one or both of their shared biological parents." ; rdfs:subClassOf , . ordo:Orphanet_94090 a rdfs:Class ; rdfs:label "Pseudohypoparathyroidism type 2" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "cranial nerve palsy" ; rdfs:comment "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. [ NCIT ]" ; rdfs:subClassOf , . ordo:Orphanet_319487 a rdfs:Class ; rdfs:label "Familial papillary or follicular thyroid carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_319494 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "Pregnancy Finding" ; rdfs:comment "Symptoms, signs, diagnostic examinations or a test results in a pregnant mother." ; rdfs:subClassOf . ordo:Orphanet_217607 a rdfs:Class ; rdfs:label "Familial dilated cardiomyopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_217604 , ordo:Orphanet_98054 , , . a rdfs:Class ; rdfs:label "skin cancer" ; rdfs:comment "A malignant neoplasm involving the zone of skin" ; rdfs:subClassOf , . ordo:Orphanet_911 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to ZAP70 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "central nervous system malformation" ; rdfs:subClassOf , . ordo:Orphanet_371861 a rdfs:Class ; rdfs:label "Genetic hyperaldosteronism" ; rdfs:subClassOf ordo:Orphanet_183637 , ordo:Orphanet_231641 , , . ordo:Orphanet_232 a rdfs:Class ; rdfs:label "Sickle cell anemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_181387 , ordo:Orphanet_275752 , ordo:Orphanet_377788 , ordo:Orphanet_399185 , ordo:Orphanet_93614 , , . ordo:Orphanet_655 a rdfs:Class ; rdfs:label "Nephronophthisis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , ordo:Orphanet_93587 , , . a rdfs:Class ; rdfs:label "isolated constitutional thrombocytopenia" ; rdfs:subClassOf ordo:Orphanet_275729 . ordo:Orphanet_319589 a rdfs:Class ; rdfs:label "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_319543 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "granulomatous autoinflammatory syndrome" ; rdfs:subClassOf . ordo:Orphanet_79394 a rdfs:Class ; rdfs:label "Congenital non-bullous ichthyosiform erythroderma" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_281097 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "tauopathy" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "channelopathy" ; rdfs:comment "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." ; rdfs:subClassOf . ordo:Orphanet_371024 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of alpha-dystroglycan" ; rdfs:subClassOf ordo:Orphanet_207049 . ordo:Orphanet_275777 a rdfs:Class ; rdfs:label "Heritable pulmonary arterial hypertension" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_422 . a rdfs:Class ; rdfs:label "glioma" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_194 a rdfs:Class ; rdfs:label "Ocular coloboma" ; rdfs:comment "Editor note: todo merge" ; rdfs:subClassOf ordo:Orphanet_108985 , ordo:Orphanet_98558 , . ordo:Orphanet_98097 a rdfs:Class ; rdfs:label "Autosomal recessive cerebellar ataxia due to a DNA repair defect" ; rdfs:subClassOf ordo:Orphanet_1172 , ordo:Orphanet_139009 , ordo:Orphanet_98543 , . a rdfs:Class ; rdfs:label "peripheral vascular disease" ; rdfs:comment "Any disorder affecting blood flow through the veins or arteries outside of the heart." ; rdfs:subClassOf . ordo:Orphanet_98540 a rdfs:Class ; rdfs:label "Late-onset ataxia with dementia" ; rdfs:subClassOf ordo:Orphanet_98538 . ordo:Orphanet_52417 a rdfs:Class ; rdfs:label "MALT lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_157987 a rdfs:Class ; rdfs:label "Non-Langerhans cell histiocytosis"@en ; rdfs:subClassOf ordo:Orphanet_182222 , ordo:Orphanet_290836 . a rdfs:Class ; rdfs:label "gingival disease" ; rdfs:comment "A disease involving the gingiva." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "measurement" ; rdfs:comment "A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." ; rdfs:subClassOf . ordo:Orphanet_98026 a rdfs:Class ; rdfs:label "Rare odontologic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_673 a rdfs:Class ; rdfs:label "Malaria"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_2134 a rdfs:Class ; rdfs:label "Atypical hemolytic-uremic syndrome" ; rdfs:comment "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." ; rdfs:subClassOf ordo:Orphanet_182043 , ordo:Orphanet_183589 , ordo:Orphanet_377788 , , , . ordo:Orphanet_399877 a rdfs:Class ; rdfs:label "Female infertility due to gonadal dysgenesis" ; rdfs:subClassOf ordo:Orphanet_400008 , . ordo:Orphanet_79383 a rdfs:Class ; rdfs:label "Lymphedema" ; rdfs:comment "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "hereditary hemochromatosis" ; rdfs:comment "An inherited metabolic disorder characterized by iron accumulation in the tissues." ; rdfs:subClassOf , , ordo:Orphanet_309842 . a rdfs:Class ; rdfs:label "Characteristic" ; rdfs:comment "The distinguishing qualities or prominent aspect of a person, object, action, process, or substance." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "angioedema" ; rdfs:comment "condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis" ; rdfs:subClassOf , . ordo:Orphanet_2182 a rdfs:Class ; rdfs:label "Hydrocephalus with stenosis of the aqueduct of Sylvius" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_2185 , ordo:Orphanet_275543 , ordo:Orphanet_377796 . ordo:Orphanet_424933 a rdfs:Class ; rdfs:label "Rare epithelial tumor of liver and intrahepatic biliary tract"@en ; rdfs:subClassOf ordo:Orphanet_306636 . ordo:Orphanet_1772 a rdfs:Class ; rdfs:label "45,X/46,XY mixed gonadal dysgenesis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_263746 , ordo:Orphanet_325546 , ordo:Orphanet_377789 , ordo:Orphanet_399877 , ordo:Orphanet_98074 , ordo:Orphanet_98313 , . a rdfs:Class ; rdfs:label "sulfur metabolism disease" ; rdfs:comment "A disease that has its basis in the disruption of sulfur compound metabolic process." ; rdfs:subClassOf . ordo:Orphanet_633 a rdfs:Class ; rdfs:label "Laron syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_181393 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "upper digestive tract disease" ; rdfs:comment "A disease or disorder that involves the upper digestive tract." ; rdfs:subClassOf . ordo:Orphanet_329249 a rdfs:Class ; rdfs:label "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_98267 . ordo:Orphanet_399771 a rdfs:Class ; rdfs:label "Male infertility due to sperm disorder" ; rdfs:subClassOf ordo:Orphanet_399764 . a rdfs:Class ; rdfs:label "cholangitis" ; rdfs:comment "An acute or chronic inflammatory process affecting the biliary tract." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "urticaria" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Propositus" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "encephalitis" ; rdfs:comment "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." ; rdfs:subClassOf , . ordo:Orphanet_53693 a rdfs:Class ; rdfs:label "GRACILE syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_309136 , ordo:Orphanet_377788 . ordo:Orphanet_293355 a rdfs:Class ; rdfs:label "Methylmalonic acidemia without homocystinuria" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_79163 , . ordo:Orphanet_329 a rdfs:Class ; rdfs:label "Congenital factor XI deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_448 , . ordo:Orphanet_238569 a rdfs:Class ; rdfs:label "Autosomal recessive early-onset inflammatory bowel disease" ; rdfs:comment "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." ; rdfs:subClassOf ordo:Orphanet_165655 , ordo:Orphanet_377788 , . ordo:Orphanet_325345 a rdfs:Class ; rdfs:label "46,XY ovotesticular disorder of sex development" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_325118 , ordo:Orphanet_377788 , ordo:Orphanet_98074 . ordo:Orphanet_156202 a rdfs:Class ; rdfs:label "Otomandibular dysplasia associated with monogenic syndromes" ; rdfs:subClassOf ordo:Orphanet_155896 . a rdfs:Class ; rdfs:label "Maternal Relative" ; rdfs:comment "A person related by lineage through the mother's side of the family." ; rdfs:subClassOf . ordo:Orphanet_2935 a rdfs:Class ; rdfs:label "Crossed polysyndactyly" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_294959 , ordo:Orphanet_377789 . ordo:Orphanet_93455 a rdfs:Class ; rdfs:label "Patellar dysostosis" ; rdfs:subClassOf ordo:Orphanet_404568 . ordo:Orphanet_183731 a rdfs:Class ; rdfs:label "Rare genetic gynecological and obstetrical diseases" ; rdfs:subClassOf ordo:Orphanet_98053 , , . a rdfs:Class ; rdfs:label "First Name" ; rdfs:comment "A word or group of words indicating a person's first (personal or given) name; the name that precedes the surname." ; rdfs:subClassOf . ordo:Orphanet_251274 a rdfs:Class ; rdfs:label "Familial hyperaldosteronism type III" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_235936 , ordo:Orphanet_371861 , ordo:Orphanet_377788 . ordo:Orphanet_1572 a rdfs:Class ; rdfs:label "Common variable immunodeficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_229720 , ordo:Orphanet_377788 . ordo:Orphanet_209224 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of myotilin" ; rdfs:subClassOf ordo:Orphanet_207049 . ordo:Orphanet_98497 a rdfs:Class ; rdfs:label "Genetic peripheral neuropathy" ; rdfs:comment "Genetic peripheral neuropathy." ; rdfs:subClassOf ordo:Orphanet_71859 , ordo:Orphanet_98496 , . ordo:Orphanet_85435 a rdfs:Class ; rdfs:label "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_593 a rdfs:Class ; rdfs:label "Myofibrillar myopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206656 , . ordo:Orphanet_774 a rdfs:Class ; rdfs:label "Hereditary hemorrhagic telangiectasia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139027 , ordo:Orphanet_183478 , ordo:Orphanet_271870 , ordo:Orphanet_371436 , ordo:Orphanet_377788 , ordo:Orphanet_98196 , ordo:Orphanet_98613 , , , , , , , . ordo:Orphanet_269550 a rdfs:Class ; rdfs:label "Genetic non-syndromic central nervous system malformation" ; rdfs:comment "A central nervous system malformation that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183506 , . ordo:Orphanet_98086 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue" ; rdfs:subClassOf ordo:Orphanet_325357 , ordo:Orphanet_325632 . a rdfs:Class ; rdfs:label "calcinosis" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_35078 a rdfs:Class ; rdfs:label "T-B+ severe combined immunodeficiency due to JAK3 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_317416 , ordo:Orphanet_377788 . ordo:Orphanet_177907 a rdfs:Class ; rdfs:label "Prader-Willi syndrome due to translocation" ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_739 . ordo:Orphanet_275813 a rdfs:Class ; rdfs:label "Pulmonary arterial hypertension associated with portal hypertension"@en ; rdfs:subClassOf ordo:Orphanet_275791 . a rdfs:Class ; rdfs:label "autoimmune disease of gastrointestinal tract" ; rdfs:comment "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system." ; rdfs:subClassOf , . ordo:Orphanet_54370 a rdfs:Class ; rdfs:label "Primary membranoproliferative glomerulonephritis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_102373 , ordo:Orphanet_377788 , , . ordo:Orphanet_180065 a rdfs:Class ; rdfs:label "Non-syndromic uterovaginal malformation"@en ; rdfs:subClassOf ordo:Orphanet_180062 , ordo:Orphanet_182117 . ordo:Orphanet_352456 a rdfs:Class ; rdfs:label "Mitochondrial DNA maintenance syndrome" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." ; rdfs:subClassOf ordo:Orphanet_2443 . ordo:Orphanet_275517 a rdfs:Class ; rdfs:label "Autoimmune lymphoproliferative syndrome with recurrent viral infections" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_3261 . ordo:Orphanet_98650 a rdfs:Class ; rdfs:label "Craniofacial anomaly with cataract" ; rdfs:subClassOf ordo:Orphanet_98643 . a rdfs:Class ; rdfs:label "sensory system disease" ; rdfs:comment "A disease involving the sensory system." ; rdfs:subClassOf . ordo:Orphanet_98056 a rdfs:Class ; rdfs:label "Rare genetic renal disease" ; rdfs:subClassOf ordo:Orphanet_98053 , . ordo:Orphanet_34528 a rdfs:Class ; rdfs:label "Autosomal dominant primary hypomagnesemia with hypocalciuria" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_306519 , ordo:Orphanet_377788 . ordo:Orphanet_300842 a rdfs:Class ; rdfs:label "Indolent B-cell non-Hodgkin lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_171915 . ordo:Orphanet_98486 a rdfs:Class ; rdfs:label "Metabolic myopathy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206656 . a rdfs:Class ; rdfs:label "disposition" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_275729 a rdfs:Class ; rdfs:label "Rare hemorrhagic disorder due to a constitutional thrombocytopenia" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_71202 . ordo:Orphanet_767 a rdfs:Class ; rdfs:label "Polyarteritis nodosa"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "autosomal genetic disease" ; rdfs:comment "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes." ; rdfs:subClassOf . ordo:Orphanet_547 a rdfs:Class ; rdfs:label "Non-Hodgkin lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_223735 . ordo:Orphanet_98697 a rdfs:Class ; rdfs:label "Genetic keratinization disorder associated with ocular features" ; rdfs:subClassOf ordo:Orphanet_98696 . ordo:Orphanet_377790 a rdfs:Class ; rdfs:label "biological anomaly"@en ; rdfs:subClassOf ordo:Orphanet_C001 . ordo:Orphanet_98709 a rdfs:Class ; rdfs:label "Ectodermal malformation syndrome associated with ocular features" ; rdfs:subClassOf ordo:Orphanet_101435 . ordo:Orphanet_2445 a rdfs:Class ; rdfs:label "Conotruncal heart malformations" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_98717 , . ordo:Orphanet_183435 a rdfs:Class ; rdfs:label "Inherited ichthyosis" ; rdfs:comment "An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_183426 , ordo:Orphanet_79354 , , . a rdfs:Class ; rdfs:label "Grandparent" ; rdfs:comment "A parent of your father or mother." ; rdfs:subClassOf . ordo:Orphanet_322126 a rdfs:Class ; rdfs:label "Genetic tumor of hematopoietic and lymphoid tissues" ; rdfs:subClassOf ordo:Orphanet_68336 , , . ordo:Orphanet_183586 a rdfs:Class ; rdfs:label "Genetic glomerular disease" ; rdfs:subClassOf ordo:Orphanet_98056 , . a rdfs:Class ; rdfs:label "normocytic anemia" ; rdfs:comment "Anemia in which the red blood cell volume is normal." ; rdfs:subClassOf . ordo:Orphanet_264745 a rdfs:Class ; rdfs:label "Secondary interstitial lung disease specific to adulthood associated with a systemic disease"@en ; rdfs:subClassOf ordo:Orphanet_264735 . ordo:Orphanet_276058 a rdfs:Class ; rdfs:label "Genetic neurodegenerative disease with dementia" ; rdfs:comment "An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_158124 , ordo:Orphanet_183500 , . a rdfs:Class ; rdfs:label "prostate disease" ; rdfs:comment "A disease involving the prostate gland." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "subcutaneous tissue disease" ; rdfs:comment "A disease involving the superficial fascia." ; rdfs:subClassOf . ordo:Orphanet_586 a rdfs:Class ; rdfs:label "Cystic fibrosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_93419 a rdfs:Class ; rdfs:label "Rare bone disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_97287 a rdfs:Class ; rdfs:label "Bronchial neuroendocrine tumor"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_3161 a rdfs:Class ; rdfs:label "Congenital pulmonary sequestration"@en ; rdfs:subClassOf ordo:Orphanet_377789 . ordo:Orphanet_169355 a rdfs:Class ; rdfs:label "Immunodeficiency syndrome with autoimmunity" ; rdfs:subClassOf ordo:Orphanet_169361 . a rdfs:Class ; rdfs:label "body height at birth" ; rdfs:comment "The distance from the sole to the crown of the head of a newborn right after birth" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "gallbladder disease" ; rdfs:comment "A disease involving the gall bladder." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "dermatitis" ; rdfs:comment "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." ; rdfs:subClassOf , . ordo:Orphanet_98661 a rdfs:Class ; rdfs:label "Syndromic retinitis pigmentosa" ; rdfs:comment "A retinitis pigmentosa that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_791 , . a rdfs:Class ; rdfs:label "occurrent" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "neurocristopathy" ; rdfs:comment "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage." ; rdfs:subClassOf , . ordo:Orphanet_522504 a rdfs:Class ; rdfs:label "Rare genetic disorder of the visual organs"@en ; rdfs:subClassOf ordo:Orphanet_101435 . ordo:Orphanet_93921 a rdfs:Class ; rdfs:label "Neurofibromatosis type 3" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183466 , ordo:Orphanet_183487 , ordo:Orphanet_377788 , ordo:Orphanet_98196 , , , , . a rdfs:Class ; rdfs:label "integumentary system benign neoplasm" ; rdfs:comment "A benign neoplasm that involves the integumental system." ; rdfs:subClassOf , . ordo:Orphanet_79191 a rdfs:Class ; rdfs:label "Disorder of purine metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." ; rdfs:subClassOf ordo:Orphanet_79224 , . ordo:Orphanet_365 a rdfs:Class ; rdfs:label "Glycogen storage disease due to acid maltase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206959 , ordo:Orphanet_217572 , ordo:Orphanet_217581 , ordo:Orphanet_217638 , ordo:Orphanet_309337 , ordo:Orphanet_377788 , ordo:Orphanet_79201 . a rdfs:Class ; rdfs:label "chromosomal disease with overgrowth" ; rdfs:subClassOf ordo:Orphanet_68335 , ordo:Orphanet_93460 . a rdfs:Class ; rdfs:label "gamma-amino butyric acid metabolism disorder" ; rdfs:comment "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." ; rdfs:subClassOf ordo:Orphanet_79175 . ordo:Orphanet_101955 a rdfs:Class ; rdfs:label "Rare thyroid disease"@en ; rdfs:subClassOf ordo:Orphanet_97978 . ordo:Orphanet_97944 a rdfs:Class ; rdfs:label "Gastroduodenal malformation" ; rdfs:subClassOf ordo:Orphanet_183545 . a rdfs:Class ; rdfs:label "albinism" ; rdfs:comment "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." ; rdfs:subClassOf . ordo:Orphanet_251510 a rdfs:Class ; rdfs:label "46,XY partial gonadal dysgenesis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_325118 , ordo:Orphanet_377789 , ordo:Orphanet_399877 , ordo:Orphanet_98074 , ordo:Orphanet_98313 . ordo:Orphanet_1848 a rdfs:Class ; rdfs:label "Bilateral renal agenesis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377796 , . ordo:Orphanet_98157 a rdfs:Class ; rdfs:label "Gonosome structural anomaly" ; rdfs:subClassOf ordo:Orphanet_98155 . a rdfs:Class ; rdfs:label "rare non surgically correctable form of primary aldosteronism" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_100087 a rdfs:Class ; rdfs:label "Thyroid tumor"@en ; rdfs:subClassOf ordo:Orphanet_101955 , ordo:Orphanet_182130 . ordo:Orphanet_140874 a rdfs:Class ; rdfs:label "Joubert syndrome and related disorders" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_98095 . ordo:Orphanet_756 a rdfs:Class ; rdfs:label "Pseudohypoaldosteronism type 1" ; rdfs:comment "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "disorder of lectin complement activation pathway" ; rdfs:comment "A disease that has its basis in the disruption of complement activation, lectin pathway." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "nervous system neoplasm" ; rdfs:comment "A neoplasm (disease) that involves the nervous system." ; rdfs:subClassOf , . ordo:Orphanet_98573 a rdfs:Class ; rdfs:label "Epicanthal fold" ; rdfs:subClassOf ordo:Orphanet_98572 . ordo:Orphanet_521 a rdfs:Class ; rdfs:label "Chronic myeloid leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_99931 a rdfs:Class ; rdfs:label "Idiopathic pulmonary hemosiderosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_107 a rdfs:Class ; rdfs:label "BOR syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_156202 , ordo:Orphanet_156237 , ordo:Orphanet_183576 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , ordo:Orphanet_93547 , . ordo:Orphanet_186 a rdfs:Class ; rdfs:label "Primary biliary cholangitis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Circumference" ; rdfs:comment "The length of the closed curve of a circle; the size of something as given by the distance around it." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "disease code system" ; rdfs:comment "The coding system used to represent diseases" ; rdfs:subClassOf . a rdf:Property ; rdfs:range . ordo:Orphanet_264935 a rdfs:Class ; rdfs:label "Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder"@en ; rdfs:subClassOf ordo:Orphanet_264762 . ordo:Orphanet_181402 a rdfs:Class ; rdfs:label "Syndrome with hypoparathyroidism" ; rdfs:subClassOf ordo:Orphanet_181405 , ordo:Orphanet_208593 , . a rdfs:Class ; rdfs:label "Netherlands" . a rdfs:Class ; rdfs:label "hyperinsulinemic hypoglycaemia" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Mother" ; rdfs:comment "A female parent." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "anencephaly" ; rdfs:comment "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." ; rdfs:subClassOf . ordo:Orphanet_247798 a rdfs:Class ; rdfs:label "MUTYH-related attenuated familial adenomatous polyposis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_220460 , ordo:Orphanet_377796 , ordo:Orphanet_733 , . ordo:Orphanet_98060 a rdfs:Class ; rdfs:label "Rare respiratory tumor"@en ; rdfs:subClassOf ordo:Orphanet_97955 , ordo:Orphanet_98057 . ordo:Orphanet_98692 a rdfs:Class ; rdfs:label "Nervous system anomaly with eye involvement" ; rdfs:subClassOf ordo:Orphanet_183616 . a rdfs:Class ; rdfs:label "secondary glomerular disease" ; rdfs:comment "Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare inflammatory eye disease" ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "rare palpebral, lacrimal system and conjunctival disease" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_79200 a rdfs:Class ; rdfs:label "Disorder of energy metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy." ; rdfs:subClassOf ordo:Orphanet_68367 . a rdfs:Class ; rdfs:label "disease" ; rdfs:comment "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." ; rdfs:subClassOf , . ordo:Orphanet_1133 a rdfs:Class ; rdfs:label "AREDYLD syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_183625 , ordo:Orphanet_377789 , ordo:Orphanet_79373 , ordo:Orphanet_93547 , . a rdfs:Class ; rdfs:label "heart position anomaly" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "disease of orbital region" ; rdfs:comment "A disease that involves the orbital region. [database_cross_reference: MONDO:patterns/location]" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "melanocytic skin neoplasm" ; rdfs:comment "A melanocytic neoplasm that involves the zone of skin." ; rdfs:subClassOf , . ordo:Orphanet_886 a rdfs:Class ; rdfs:label "Usher syndrome" ; rdfs:comment "Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." ; rdfs:subClassOf ordo:Orphanet_90642 , ordo:Orphanet_98661 , , . a rdfs:Class ; rdfs:label "Personal Information" ; rdfs:comment "Data, facts or figures about an individual; the set of relevant items would depend on the use case." ; rdfs:subClassOf . ordo:Orphanet_294929 a rdfs:Class ; rdfs:label "Terminal limb defects" ; rdfs:subClassOf ordo:Orphanet_93457 . ordo:Orphanet_385 a rdfs:Class ; rdfs:label "Neurodegeneration with brain iron accumulation" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_276058 , ordo:Orphanet_306695 , ordo:Orphanet_307058 , ordo:Orphanet_68385 , ordo:Orphanet_98534 , ordo:Orphanet_98543 , , . ordo:Orphanet_98301 a rdfs:Class ; rdfs:label "Laminopathy"@en ; rdfs:subClassOf ordo:Orphanet_98053 . a rdfs:Class ; rdfs:label "phenotype" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_206653 a rdfs:Class ; rdfs:label "Autosomal recessive distal myopathy" ; rdfs:comment "Autosomal recessive form of distal myopathy." ; rdfs:subClassOf ordo:Orphanet_599 , . a rdfs:Class ; rdfs:label "rare disease with Pierre Robin syndrome" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_156237 . a rdfs:Class ; rdfs:label "capillary malformation" ; rdfs:subClassOf . ordo:Orphanet_438159 a rdfs:Class ; rdfs:label "STAT3-related early-onset multisystem autoimmune disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_85408 a rdfs:Class ; rdfs:label "Rheumatoid factor-negative juvenile idiopathic arthritis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "inherited digestive cancer-predisposing syndrome" ; rdfs:subClassOf ordo:Orphanet_140162 . ordo:Orphanet_470 a rdfs:Class ; rdfs:label "Lysinuric protein intolerance" ; rdfs:comment "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." ; rdfs:seeAlso , ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79166 , . a rdfs:Class ; rdfs:label "adrenal gland neoplasm" ; rdfs:comment "Tumors or cancer of the ADRENAL GLANDS." ; rdfs:subClassOf , . ordo:Orphanet_98048 a rdfs:Class ; rdfs:label "Rare male infertility"@en ; rdfs:subClassOf ordo:Orphanet_98047 . ordo:Orphanet_276624 a rdfs:Class ; rdfs:label "Sporadic pheochromocytoma"@en ; rdfs:subClassOf ordo:Orphanet_377796 . ordo:Orphanet_98352 a rdfs:Class ; rdfs:label "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" ; rdfs:comment "Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_307711 , . ordo:Orphanet_327 a rdfs:Class ; rdfs:label "Congenital factor VII deficiency" ; rdfs:comment "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." ; rdfs:subClassOf ordo:Orphanet_169826 , ordo:Orphanet_377788 , . ordo:Orphanet_36273 a rdfs:Class ; rdfs:label "Gastric linitis plastica"@en ; rdfs:subClassOf ordo:Orphanet_377793 . ordo:Orphanet_2052 a rdfs:Class ; rdfs:label "Fraser syndrome" ; rdfs:comment "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_117573 , ordo:Orphanet_330206 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , ordo:Orphanet_93547 , ordo:Orphanet_98562 , . ordo:Orphanet_169157 a rdfs:Class ; rdfs:label "T-B+ severe combined immunodeficiency due to CD45 deficiency" ; rdfs:subClassOf ordo:Orphanet_317416 , ordo:Orphanet_377788 . ordo:Orphanet_309819 a rdfs:Class ; rdfs:label "Disorder of pterin metabolism" ; rdfs:subClassOf ordo:Orphanet_68385 , ordo:Orphanet_79169 . a rdfs:Class ; rdfs:label "anemia due to enzyme disorder" ; rdfs:comment "Any form of anemia that results from the absence of, or the defective action of, any enzyme." ; rdfs:subClassOf , , . ordo:Orphanet_391 a rdfs:Class ; rdfs:label "Classic Hodgkin lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "syndromic intellectual disability" ; rdfs:comment "A intellectual disability that is part of a larger syndrome." ; rdfs:subClassOf , . ordo:Orphanet_97955 a rdfs:Class ; rdfs:label "Rare respiratory disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_530313 a rdfs:Class ; rdfs:label "PIK3CA-related overgrowth syndrome"@en ; rdfs:subClassOf ordo:Orphanet_93460 . ordo:Orphanet_572 a rdfs:Class ; rdfs:label "Immunodeficiency by defective expression of HLA class 2" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_145 a rdfs:Class ; rdfs:label "Hereditary breast and ovarian cancer syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_183731 , ordo:Orphanet_213517 , ordo:Orphanet_227535 , , , . ordo:Orphanet_513 a rdfs:Class ; rdfs:label "Acute lymphoblastic leukemia"@en ; rdfs:subClassOf ordo:Orphanet_547 . ordo:Orphanet_90301 a rdfs:Class ; rdfs:label "Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement" ; rdfs:comment "This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy." ; rdfs:subClassOf ordo:Orphanet_181368 , ordo:Orphanet_377788 , ordo:Orphanet_79360 , , . ordo:Orphanet_97338 a rdfs:Class ; rdfs:label "Melanoma of soft tissue"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98006 a rdfs:Class ; rdfs:label "Rare neurologic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_519331 a rdfs:Class ; rdfs:label "Secondary early-onset glaucoma"@en ; rdfs:subClassOf ordo:Orphanet_523000 . ordo:Orphanet_284790 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of tropomyosin" ; rdfs:subClassOf ordo:Orphanet_207049 . ordo:Orphanet_217638 a rdfs:Class ; rdfs:label "Lysosomal disease with restrictive cardiomyopathy" ; rdfs:subClassOf ordo:Orphanet_217635 , ordo:Orphanet_68366 . a rdfs:Class ; rdfs:label "North Macedonia" . ordo:Orphanet_207021 a rdfs:Class ; rdfs:label "Rare hereditary systemic disease with peripheral neuropathy" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_207015 . ordo:Orphanet_284818 a rdfs:Class ; rdfs:label "Disorder of tyrosine metabolism" ; rdfs:subClassOf ordo:Orphanet_79190 , . ordo:Orphanet_155832 a rdfs:Class ; rdfs:label "Rare head and neck malformation"@en ; rdfs:subClassOf ordo:Orphanet_93890 . ordo:Orphanet_525731 a rdfs:Class ; rdfs:label "Pediatric-onset Graves disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_637 a rdfs:Class ; rdfs:label "Neurofibromatosis type 2" ; rdfs:comment "Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_90642 , . ordo:Orphanet_79166 a rdfs:Class ; rdfs:label "Disorder of amino acid absorption and transport" ; rdfs:comment "Editor note: consider changing to transport" ; rdfs:subClassOf ordo:Orphanet_79062 . ordo:Orphanet_306519 a rdfs:Class ; rdfs:label "Familial primary hypomagnesemia with hypocalcuria" ; rdfs:subClassOf ordo:Orphanet_34526 . ordo:Orphanet_269567 a rdfs:Class ; rdfs:label "Genetic syndrome with a cerebellar malformation as major feature" ; rdfs:subClassOf ordo:Orphanet_269564 , . a rdfs:Class ; rdfs:label "melanocytic nevus" ; rdfs:comment "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. [NCIT:C7570]" ; rdfs:subClassOf , , . ordo:Orphanet_779 a rdfs:Class ; rdfs:label "Reynolds syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_268843 a rdfs:Class ; rdfs:label "Malformation of the neurenteric canal, spinal cord and column" ; rdfs:subClassOf ordo:Orphanet_3388 . ordo:Orphanet_397802 a rdfs:Class ; rdfs:label "T+ B+ severe combined immunodeficiency" ; rdfs:subClassOf ordo:Orphanet_183660 . a rdfs:Class ; rdfs:label "Network For Early Onset Cystic Kidney Disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_496916 a rdfs:Class ; rdfs:label "Rare genetic hyperkinetic movement disorder"@en ; rdfs:subClassOf ordo:Orphanet_183521 . a rdfs:Class ; rdfs:label "integumentary system disease" ; rdfs:comment "A disease involving the integumental system." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "inclusion body myositis" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "retinal cell cancer" ; rdfs:subClassOf , . ordo:Orphanet_275798 a rdfs:Class ; rdfs:label "Pulmonary arterial hypertension associated with connective tissue disease"@en ; rdfs:subClassOf ordo:Orphanet_275791 . ordo:Orphanet_117569 a rdfs:Class ; rdfs:label "Rare intestinal disease"@en ; rdfs:subClassOf ordo:Orphanet_97935 . ordo:Orphanet_98584 a rdfs:Class ; rdfs:label "Malignant tumor of palpebral epidermis" ; rdfs:comment "A cancer that involves the skin of eyelid." ; rdfs:subClassOf ordo:Orphanet_98580 , , , . a rdfs:Class ; rdfs:label "thyroid cancer" ; rdfs:comment "A malignant neoplasm involving the thyroid gland" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "systemic or rheumatic disease" ; rdfs:comment "Editor note: todo. ORDO includes vasculitis here but this is not normally included in the SARDs" ; rdfs:subClassOf . ordo:Orphanet_108967 a rdfs:Class ; rdfs:label "Non-syndromic intestinal malformation" ; rdfs:comment "A intestinal malformation that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_97945 . ordo:Orphanet_79360 a rdfs:Class ; rdfs:label "Other genetic epidermal disease" ; rdfs:comment "Editor note: consider merging" ; rdfs:subClassOf ordo:Orphanet_183426 , . a rdfs:Class ; rdfs:label "meningeal neoplasm" ; rdfs:comment "Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." ; rdfs:subClassOf . ordo:Orphanet_156619 a rdfs:Class ; rdfs:label "Rare genetic urogenital disease" ; rdfs:subClassOf ordo:Orphanet_98053 , . a rdfs:Class ; rdfs:label "pseudohermaphroditism" ; rdfs:comment "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex." ; rdfs:subClassOf . ordo:Orphanet_183512 a rdfs:Class ; rdfs:label "Rare genetic epilepsy" ; rdfs:subClassOf ordo:Orphanet_71859 . a rdfs:Class ; rdfs:label "brain inflammatory disease" ; rdfs:comment "An inflammatory disease involving a pathogenic inflammatory response in the brain." ; rdfs:subClassOf , , . ordo:Orphanet_3384 a rdfs:Class ; rdfs:label "Truncus arteriosus"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_206638 a rdfs:Class ; rdfs:label "Acquired skeletal muscle disease"@en ; rdfs:subClassOf ordo:Orphanet_98472 . a rdfs:Class ; rdfs:label "person" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_98641 a rdfs:Class ; rdfs:label "Syndromic cataract" ; rdfs:comment "A cataract (disease) that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_98640 , , . ordo:Orphanet_3322 a rdfs:Class ; rdfs:label "Hoyeraal-Hreidarsson syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_269567 , . ordo:Orphanet_231147 a rdfs:Class ; rdfs:label "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11" ; rdfs:subClassOf ordo:Orphanet_377795 , ordo:Orphanet_813 , ordo:Orphanet_98153 . ordo:Orphanet_731 a rdfs:Class ; rdfs:label "Autosomal recessive polycystic kidney disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_400003 , ordo:Orphanet_93587 , , , , , . ordo:Orphanet_98053 a rdfs:Class ; rdfs:label "Rare genetic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_3378 a rdfs:Class ; rdfs:label "Trisomy 13" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_117573 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_98131 , ordo:Orphanet_98669 , ordo:Orphanet_98683 , , , . a rdfs:Class ; rdfs:label "No" ; rdfs:comment "The non-affirmative response to a question." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "National Congenital Anomaly and Rare Disease Registration Service" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "type IV hypersensitivity disease" ; rdfs:comment "A disease that has its basis in the disruption of type IV hypersensitivity." ; rdfs:subClassOf . ordo:Orphanet_319543 a rdfs:Class ; rdfs:label "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_824 a rdfs:Class ; rdfs:label "Primary myelofibrosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "autoimmune hypoparathyroidism (disease)" ; rdfs:comment "An autoimmune form of hypoparathyroidism." ; rdfs:subClassOf , . ordo:Orphanet_110 a rdfs:Class ; rdfs:label "Bardet-Biedl syndrome" ; rdfs:comment "Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement." ; rdfs:subClassOf ordo:Orphanet_108969 , ordo:Orphanet_108987 , ordo:Orphanet_181387 , ordo:Orphanet_240371 , ordo:Orphanet_330197 , ordo:Orphanet_399846 , ordo:Orphanet_93547 , ordo:Orphanet_93587 , ordo:Orphanet_98661 , ordo:Orphanet_98666 , , , , , , . a rdfs:Class ; rdfs:label "Biological Maternal Grandmother" ; rdfs:comment "A female relative who is the biological mother of the biological mother." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "hemorrhagic disease" ; rdfs:comment "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)." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "polyposis" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "bile duct disease" ; rdfs:comment "A disease involving the bile duct." ; rdfs:subClassOf . ordo:Orphanet_677 a rdfs:Class ; rdfs:label "Pancreatoblastoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_2781 a rdfs:Class ; rdfs:label "Osteopetrosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_93444 , . ordo:Orphanet_309337 a rdfs:Class ; rdfs:label "Lysosomal glycogen storage disease" ; rdfs:subClassOf ordo:Orphanet_68366 . a rdfs:Class ; rdfs:label "benign eyelid neoplasm" ; rdfs:comment "A non-metastasizing neoplasm that arises from the upper or lower eyelid." ; rdfs:subClassOf , , . ordo:Orphanet_435554 a rdfs:Class ; rdfs:label "Genetic precocious puberty"@en ; rdfs:subClassOf ordo:Orphanet_156638 . a rdfs:Class ; rdfs:label "Switzerland" . ordo:Orphanet_68416 a rdfs:Class ; rdfs:label "Rare infectious disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . a rdfs:Class ; rdfs:label "Place Identifier" ; rdfs:comment "A unique symbol that establishes identity of the place." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "neuroendocrine carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf , , . a rdfs:Class ; rdfs:label "hair anomaly" ; rdfs:subClassOf , . ordo:Orphanet_79355 a rdfs:Class ; rdfs:label "Erythrokeratoderma"@en ; rdfs:subClassOf ordo:Orphanet_79353 . a rdfs:Class ; rdfs:label "auditory system disease" ; rdfs:comment "Pathological processes of the ear, the hearing, and the equilibrium system of the body." ; rdfs:subClassOf . ordo:Orphanet_44890 a rdfs:Class ; rdfs:label "Gastrointestinal stromal tumor" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_271835 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "differentiated thyroid carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_648 a rdfs:Class ; rdfs:label "Noonan syndrome" ; rdfs:comment "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects." ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_181441 , ordo:Orphanet_183422 , ordo:Orphanet_330197 , ordo:Orphanet_377789 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , ordo:Orphanet_93547 , ordo:Orphanet_98576 , ordo:Orphanet_98578 , ordo:Orphanet_98733 , , , , . ordo:Orphanet_271835 a rdfs:Class ; rdfs:label "Genetic digestive tract tumor" ; rdfs:subClassOf ordo:Orphanet_68336 , . a rdfs:Class ; rdfs:label "chronic lung disease" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "X-linked disease" ; rdfs:comment "X-linked form of disease." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Laboratory techniques" ; rdfs:subClassOf . ordo:Orphanet_97593 a rdfs:Class ; rdfs:label "Pseudohypoparathyroidism" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_139009 , ordo:Orphanet_181405 , ordo:Orphanet_183592 , ordo:Orphanet_208593 , ordo:Orphanet_93603 , , . a rdfs:Class ; rdfs:label "defective phagocytic cell engulfment" ; rdfs:subClassOf , . ordo:Orphanet_988 a rdfs:Class ; rdfs:label "Absent tibia - polydactyly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377789 , ordo:Orphanet_404574 , . a rdfs:Class ; rdfs:label "early-onset generalized dystonia" ; rdfs:subClassOf ordo:Orphanet_376724 . a rdfs:Class ; rdfs:label "generalized dystonia" ; rdfs:comment "Editor note: TODO" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "peripheral nervous system disease" ; rdfs:comment "A disease involving the peripheral nervous system." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "vitreous body disease" ; rdfs:comment "Any disease affecting the vitreous body of the eye. [ NCI ]" ; rdfs:subClassOf , . ordo:Orphanet_2130 a rdfs:Class ; rdfs:label "Hemimelia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_498457 . a rdfs:Class ; rdfs:label "inherited nervous system cancer-predisposing syndrome" ; rdfs:subClassOf . ordo:Orphanet_314759 a rdfs:Class ; rdfs:label "Mixed functioning pituitary adenoma"@en ; rdfs:subClassOf ordo:Orphanet_314753 . ordo:Orphanet_140162 a rdfs:Class ; rdfs:label "Inherited cancer-predisposing syndrome" ; rdfs:comment "The inherited predisposition toward getting a tumor." ; rdfs:subClassOf ordo:Orphanet_250908 , ordo:Orphanet_98053 , , . a rdfs:Class ; rdfs:label "type II hypersensitivity reaction disease" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_102283 a rdfs:Class ; rdfs:label "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability" ; rdfs:subClassOf ordo:Orphanet_183533 . ordo:Orphanet_1037 a rdfs:Class ; rdfs:label "Arthrogryposis multiplex congenita" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_109007 . ordo:Orphanet_280 a rdfs:Class ; rdfs:label "Wolf-Hirschhorn syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_261884 , ordo:Orphanet_377789 , ordo:Orphanet_90642 , , , , , , . ordo:Orphanet_2318 a rdfs:Class ; rdfs:label "Joubert syndrome with oculorenal defect" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_140874 , ordo:Orphanet_377789 , ordo:Orphanet_93587 , ordo:Orphanet_98661 , ordo:Orphanet_98688 . ordo:Orphanet_358 a rdfs:Class ; rdfs:label "Gitelman syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , , . ordo:Orphanet_2414 a rdfs:Class ; rdfs:label "Congenital pulmonary lymphangiectasia" ; rdfs:comment "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108993 , ordo:Orphanet_183622 , ordo:Orphanet_264992 , ordo:Orphanet_377788 , ordo:Orphanet_79452 , ordo:Orphanet_89832 , , , , . ordo:Orphanet_778 a rdfs:Class ; rdfs:label "Rett syndrome" ; rdfs:comment "Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system." ; rdfs:subClassOf ordo:Orphanet_166472 , ordo:Orphanet_168778 , ordo:Orphanet_377788 , ordo:Orphanet_98464 , . ordo:Orphanet_318 a rdfs:Class ; rdfs:label "Acute erythroid leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "dilated cardiomyopathy 3B" ; rdfs:comment "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." ; rdfs:subClassOf ordo:Orphanet_154 . ordo:Orphanet_791 a rdfs:Class ; rdfs:label "Retinitis pigmentosa" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_71862 . ordo:Orphanet_88618 a rdfs:Class ; rdfs:label "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183763 , ordo:Orphanet_377788 , ordo:Orphanet_79158 , , . ordo:Orphanet_294939 a rdfs:Class ; rdfs:label "Preaxial polydactyly of fingers" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:ObsoleteClass , ordo:Orphanet_2913 . a rdfs:Class ; rdfs:label "Person Name" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_31826 a rdfs:Class ; rdfs:label "Ethylene glycol poisoning"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98555 a rdfs:Class ; rdfs:label "Anophthalmia - microphthalmia" ; rdfs:subClassOf ordo:Orphanet_519272 , ordo:Orphanet_522536 , ordo:Orphanet_98554 . a rdfs:Class ; rdfs:label "hepatobiliary disease" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_79140 a rdfs:Class ; rdfs:label "Cutaneous neuroendocrine carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_71212 a rdfs:Class ; rdfs:label "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_309127 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79158 , , . a rdfs:Class ; rdfs:label "syndrome with combined immunodeficiency" ; rdfs:subClassOf ordo:Orphanet_179006 . ordo:Orphanet_98603 a rdfs:Class ; rdfs:label "Secretory apparatus of the lacrimal system anomaly" ; rdfs:subClassOf ordo:Orphanet_98602 . ordo:Orphanet_95502 a rdfs:Class ; rdfs:label "Acquired pituitary hormone deficiency"@en ; rdfs:subClassOf ordo:Orphanet_101957 . ordo:Orphanet_809 a rdfs:Class ; rdfs:label "Mixed connective tissue disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "breast cancer" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "muscular disease" ; rdfs:comment "Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "inherited bleeding disorder, platelet-type" ; rdfs:subClassOf , , . ordo:Orphanet_220489 a rdfs:Class ; rdfs:label "Rare hereditary hemochromatosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_309842 . ordo:Orphanet_1647 a rdfs:Class ; rdfs:label "Oculocerebrocutaneous syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_166463 , ordo:Orphanet_377789 , . ordo:Orphanet_93461 a rdfs:Class ; rdfs:label "Chromosomal disease with overgrowth"@en ; rdfs:subClassOf ordo:Orphanet_93460 . ordo:Orphanet_3090 a rdfs:Class ; rdfs:label "Congenital pulmonary venous return anomaly"@en ; rdfs:subClassOf ordo:Orphanet_98729 . ordo:Orphanet_104013 a rdfs:Class ; rdfs:label "Metabolic disease with intestinal involvement" ; rdfs:comment "A metabolic disease that involves the intestine." ; rdfs:subClassOf ordo:Orphanet_165655 , ordo:Orphanet_68367 , . a rdfs:Class ; rdfs:label "Spouse" ; rdfs:comment "A person's partner in marriage." ; rdfs:subClassOf . ordo:Orphanet_100094 a rdfs:Class ; rdfs:label "Multiple polyglandular tumor" ; rdfs:comment "Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad" ; rdfs:subClassOf ordo:Orphanet_101956 , ordo:Orphanet_182130 , ordo:Orphanet_183643 , ordo:Orphanet_271847 , . a rdfs:Class ; rdfs:label "adrenal/paraganglial tumor" ; rdfs:comment "Editor note: consider merging" ; rdfs:subClassOf . ordo:Orphanet_2239 a rdfs:Class ; rdfs:label "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_377796 , . ordo:Orphanet_307061 a rdfs:Class ; rdfs:label "Rare genetic tremor disorder" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_71859 , . ordo:Orphanet_247 a rdfs:Class ; rdfs:label "Arrhythmogenic right ventricular dysplasia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_167848 , ordo:Orphanet_98054 , , . ordo:Orphanet_183601 a rdfs:Class ; rdfs:label "Rare genetic refraction anomaly" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101435 . a rdfs:Class ; rdfs:label "restrictive cardiomyopathy" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_1959 a rdfs:Class ; rdfs:label "Evans syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_91492 a rdfs:Class ; rdfs:label "Non-syndromic congenital cataract" ; rdfs:subClassOf ordo:Orphanet_108985 , ordo:Orphanet_217049 , ordo:Orphanet_377788 . ordo:Orphanet_352 a rdfs:Class ; rdfs:label "Galactosemia" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_101940 , ordo:Orphanet_308467 , ordo:Orphanet_93593 , ordo:Orphanet_98644 , ordo:Orphanet_98712 . a rdfs:Class ; rdfs:label "respiratory or thoracic malformation" ; rdfs:subClassOf . ordo:Orphanet_284811 a rdfs:Class ; rdfs:label "Syndromic oculocutaneous albinism" ; rdfs:comment "A oculocutaneous albinism that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183469 , ordo:Orphanet_352728 , ordo:Orphanet_98706 . ordo:Orphanet_137625 a rdfs:Class ; rdfs:label "Glycogen storage disease due to muscle and heart glycogen synthase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_217572 , ordo:Orphanet_308520 , ordo:Orphanet_377788 . ordo:Orphanet_309810 a rdfs:Class ; rdfs:label "Disorder of peroxisomal alpha-, beta- and omega-oxidation" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_68373 . ordo:Orphanet_168807 a rdfs:Class ; rdfs:label "Primary malignant peritoneal tumor"@en ; rdfs:subClassOf ordo:Orphanet_168803 . ordo:Orphanet_98684 a rdfs:Class ; rdfs:label "Craniostenosis associated with a strabismus" ; rdfs:subClassOf ordo:Orphanet_98683 . a rdfs:Class ; rdfs:label "psychiatric disorder" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_1866 a rdfs:Class ; rdfs:label "Focal, segmental or multifocal dystonia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_156159 . ordo:Orphanet_289902 a rdfs:Class ; rdfs:label "3-methylglutaconic aciduria" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_79163 . ordo:Orphanet_275766 a rdfs:Class ; rdfs:label "Idiopathic pulmonary arterial hypertension" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_275777 . ordo:Orphanet_99739 a rdfs:Class ; rdfs:label "Rare familial disorder with hypertrophic cardiomyopathy" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_98054 , . a rdfs:Class ; rdfs:label "hemophagocytic syndrome" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Identifier" ; rdfs:seeAlso , ; rdfs:subClassOf . ordo:Orphanet_99880 a rdfs:Class ; rdfs:label "Hyperparathyroidism-jaw tumor syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183595 , ordo:Orphanet_2207 , ordo:Orphanet_319328 , ordo:Orphanet_377788 . ordo:Orphanet_752 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" ; rdfs:comment "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." ; rdfs:subClassOf ordo:Orphanet_309005 , ordo:Orphanet_377788 , ordo:Orphanet_399685 , ordo:Orphanet_399994 , ordo:Orphanet_400018 , ordo:Orphanet_90787 , . ordo:Orphanet_88632 a rdfs:Class ; rdfs:label "Familial ocular anterior segment mesenchymal dysgenesis" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_108985 , ordo:Orphanet_519284 , ordo:Orphanet_98553 , ordo:Orphanet_98558 . ordo:Orphanet_101945 a rdfs:Class ; rdfs:label "Rare bronchopulmonary tumor"@en ; rdfs:subClassOf ordo:Orphanet_98060 . ordo:Orphanet_371235 a rdfs:Class ; rdfs:label "Congenital disorder of glycosylation with developmental anomaly" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_137 , ordo:Orphanet_139009 . ordo:Orphanet_1143 a rdfs:Class ; rdfs:label "Neurogenic arthrogryposis multiplex congenita" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_1037 . a rdfs:Class ; rdfs:label "blood coagulation disease" ; rdfs:comment "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. [ NCIT:C2902 ]" ; rdfs:subClassOf . ordo:Orphanet_306498 a rdfs:Class ; rdfs:label "PTEN hamartoma tumor syndrome" ; rdfs:comment " 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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183422 , ordo:Orphanet_79386 , ordo:Orphanet_98196 . ordo:Orphanet_181376 a rdfs:Class ; rdfs:label "Rare diabetes mellitus type 2"@en ; rdfs:subClassOf ordo:Orphanet_101952 . a rdfs:Class ; rdfs:label "connective and soft tissue neoplasm" ; rdfs:comment "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "retinopathy" ; rdfs:comment "Any disease or disorder of the retina." ; rdfs:subClassOf . ordo:Orphanet_589 a rdfs:Class ; rdfs:label "Myasthenia gravis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "adrenal cortex neoplasm" ; rdfs:comment "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)" ; rdfs:subClassOf , . ordo:Orphanet_83001 a rdfs:Class ; rdfs:label "Urogenital tract malformation"@en ; rdfs:subClassOf ordo:Orphanet_101433 , ordo:Orphanet_93890 . ordo:Orphanet_98704 a rdfs:Class ; rdfs:label "Onycho-patellar syndrome with eye involvement" ; rdfs:subClassOf ordo:Orphanet_98696 . ordo:Orphanet_183554 a rdfs:Class ; rdfs:label "Genetic respiratory or mediastinal malformation" ; rdfs:subClassOf ordo:Orphanet_183530 , , . ordo:Orphanet_180068 a rdfs:Class ; rdfs:label "Partial bilateral aplasia of the Müllerian ducts" ; rdfs:subClassOf ordo:Orphanet_73217 . ordo:Orphanet_2197 a rdfs:Class ; rdfs:label "Idiopathic hypercalciuria" ; rdfs:comment "Editor note: consider grouping class" ; rdfs:subClassOf ordo:Orphanet_183592 , ordo:Orphanet_377788 , ordo:Orphanet_68367 , , . ordo:Orphanet_90796 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to isolated 17,20 lyase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_90787 , ordo:Orphanet_90793 . ordo:Orphanet_93458 a rdfs:Class ; rdfs:label "Non-syndromic polydactyly, syndactyly and/or hyperphalangy" ; rdfs:subClassOf ordo:Orphanet_109011 , ordo:Orphanet_364568 , ordo:Orphanet_404571 . ordo:Orphanet_101433 a rdfs:Class ; rdfs:label "Rare urogenital disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . ordo:Orphanet_93420 a rdfs:Class ; rdfs:label "FGFR3-related chondrodysplasia" ; rdfs:subClassOf ordo:Orphanet_364803 . ordo:Orphanet_262 a rdfs:Class ; rdfs:label "Duchenne and Becker muscular dystrophy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_206644 , ordo:Orphanet_217610 , ordo:Orphanet_98464 . a rdfs:Class ; rdfs:label "vascular neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "San Marino" . a rdfs:Class ; rdfs:label "keratosis" ; rdfs:comment "A skin disorder consisting of hypertrophy of the stratum corneum of the skin." ; rdfs:subClassOf , . ordo:Orphanet_319605 a rdfs:Class ; rdfs:label "X-linked mendelian susceptibility to mycobacterial diseases" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_748 . ordo:Orphanet_98044 a rdfs:Class ; rdfs:label "Central nervous system malformation"@en ; rdfs:subClassOf ordo:Orphanet_93890 , ordo:Orphanet_98006 . ordo:Orphanet_98614 a rdfs:Class ; rdfs:label "Conjunctival lymphangiectasia" ; rdfs:subClassOf ordo:Orphanet_98611 . ordo:Orphanet_99429 a rdfs:Class ; rdfs:label "Complete androgen insensitivity syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_754 . a rdfs:Class ; rdfs:label "congenital heart disease" ; rdfs:comment "any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" ; rdfs:subClassOf , . ordo:Orphanet_377791 a rdfs:Class ; rdfs:label "morphological anomaly"@en ; rdfs:subClassOf ordo:Orphanet_C001 . a rdfs:Class ; rdfs:label "third cranial nerve disease" ; rdfs:comment "A disease involving the oculomotor nerve." ; rdfs:subClassOf , . ordo:Orphanet_228145 a rdfs:Class ; rdfs:label "Multiple sclerosis variant"@en ; rdfs:subClassOf ordo:Orphanet_182064 . ordo:Orphanet_98259 a rdfs:Class ; rdfs:label "Childhood-onset epilepsy syndrome" ; rdfs:comment "A epilepsy syndrome that occurs during childhood." ; rdfs:subClassOf ordo:Orphanet_166463 . a rdfs:Class ; rdfs:label "concept scheme" ; rdfs:comment """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.""" ; rdfs:subClassOf . ordo:Orphanet_371195 a rdfs:Class ; rdfs:label "Congenital disorder of glycosylation-related bone disorder" ; rdfs:subClassOf ordo:Orphanet_364803 , ordo:Orphanet_371235 . a rdfs:Class ; rdfs:label "head and neck neoplasia" ; rdfs:comment "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." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "thoracic malformation" ; rdfs:subClassOf . ordo:Orphanet_1531 a rdfs:Class ; rdfs:label "Craniosynostosis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183542 , ordo:Orphanet_404568 , . a rdfs:Class ; rdfs:label "Brother" ; rdfs:comment "A male sibling." ; rdfs:subClassOf . ordo:Orphanet_158014 a rdfs:Class ; rdfs:label "Rosaï-Dorfman disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_98691 a rdfs:Class ; rdfs:label "Abnormal eye movements" ; rdfs:subClassOf ordo:Orphanet_183616 . a rdfs:Class ; rdfs:label "tumor of parathyroid gland" ; rdfs:comment "A neoplasm (disease) that involves the parathyroid gland." ; rdfs:subClassOf , . ordo:Orphanet_522548 a rdfs:Class ; rdfs:label "Syndromic genetic cataract"@en ; rdfs:subClassOf ordo:Orphanet_522546 . a rdfs:Class ; rdfs:label "hydronephrosis" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_309120 a rdfs:Class ; rdfs:label "Acyl-CoA dehydrogenase deficiency" ; rdfs:subClassOf ordo:Orphanet_309115 , . ordo:Orphanet_183589 a rdfs:Class ; rdfs:label "Genetic thrombotic microangiopathy" ; rdfs:comment "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation." ; rdfs:subClassOf ordo:Orphanet_183654 , ordo:Orphanet_98056 , . ordo:Orphanet_324924 a rdfs:Class ; rdfs:label "Hereditary periodic fever syndrome" ; rdfs:comment "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_271870 , , . a rdfs:Class ; rdfs:label "rare female infertility due to an adrenal disorder" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_96253 a rdfs:Class ; rdfs:label "Cushing disease"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_177904 a rdfs:Class ; rdfs:label "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" ; rdfs:subClassOf ordo:Orphanet_98793 . ordo:Orphanet_217390 a rdfs:Class ; rdfs:label "Combined immunodeficiency due to DOCK8 deficiency" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_169446 , ordo:Orphanet_377788 , . ordo:Orphanet_284814 a rdfs:Class ; rdfs:label "Disorder of phenylalanine metabolism" ; rdfs:subClassOf ordo:Orphanet_79190 , . ordo:Orphanet_100100 a rdfs:Class ; rdfs:label "Thymic tumor"@en ; rdfs:subClassOf ordo:Orphanet_98057 . ordo:Orphanet_1475 a rdfs:Class ; rdfs:label "Renal coloboma syndrome" ; rdfs:comment "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108987 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , ordo:Orphanet_98558 , . ordo:Orphanet_1083 a rdfs:Class ; rdfs:label "Microlissencephaly" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377791 , ordo:Orphanet_48471 . a rdfs:Class ; rdfs:label "autoimmune disease with skin involvement" ; rdfs:comment "A hypersensitivity reaction type II disease that involves the skin of body." ; rdfs:subClassOf , . ordo:Orphanet_95707 a rdfs:Class ; rdfs:label "Idiopathic isolated micropenis"@en ; rdfs:subClassOf ordo:Orphanet_377791 . ordo:Orphanet_319494 a rdfs:Class ; rdfs:label "Familial nonmedullary thyroid carcinoma" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_271847 , . ordo:Orphanet_98131 a rdfs:Class ; rdfs:label "Total autosomal trisomy" ; rdfs:subClassOf ordo:Orphanet_98130 . a rdfs:Class ; rdfs:label "rare parathyroid disease and phosphocalcic metabolism anomaly" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_35889 a rdfs:Class ; rdfs:label "Acute opioid poisoning"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_49041 a rdfs:Class ; rdfs:label "IgG4-related retroperitoneal fibrosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_301 a rdfs:Class ; rdfs:label "Ependymal tumor"@en ; rdfs:subClassOf ordo:Orphanet_182067 . ordo:Orphanet_294935 a rdfs:Class ; rdfs:label "Split hand or/and split foot malformation" ; 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:subClassOf ordo:Orphanet_294929 . a rdfs:Class ; rdfs:label "autosomal recessive severe congenital neutropenia" ; rdfs:subClassOf , ordo:Orphanet_42738 . ordo:Orphanet_97965 a rdfs:Class ; rdfs:label "Rare surgical cardiac disease"@en ; rdfs:subClassOf ordo:Orphanet_93890 . a rdfs:Class ; rdfs:label "autoimmune disease" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:comment "An unconstrained type or object" . a rdfs:Class ; rdfs:label "rare neurologic disease with psychiatric involvement" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_568 a rdfs:Class ; rdfs:label "Microphthalmia, Lenz type" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_202948 , ordo:Orphanet_2542 , ordo:Orphanet_330197 , ordo:Orphanet_377789 , ordo:Orphanet_98464 , ordo:Orphanet_98655 , , . ordo:Orphanet_183545 a rdfs:Class ; rdfs:label "Genetic digestive tract malformation" ; rdfs:subClassOf ordo:Orphanet_183530 , . ordo:Orphanet_264762 a rdfs:Class ; rdfs:label "Primary interstitial lung disease in childhood and adulthood"@en ; rdfs:subClassOf ordo:Orphanet_264757 . ordo:Orphanet_284 a rdfs:Class ; rdfs:label "Alveolar echinococcosis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Proband" ; rdfs:comment "The affected family member who seeks medical attention for a genetic disorder thereby bringing the family under study." ; rdfs:subClassOf . ordo:Orphanet_98664 a rdfs:Class ; rdfs:label "Genetic macular dystrophy" ; rdfs:comment "Macular dystrophy that is related to a change in a gene." ; rdfs:subClassOf ordo:Orphanet_71862 . ordo:Orphanet_101938 a rdfs:Class ; rdfs:label "Rare vascular liver disease"@en ; rdfs:subClassOf ordo:Orphanet_57146 . a rdfs:Class ; rdfs:label "viral disease" ; rdfs:comment "Any disease caused by a virus." ; rdfs:subClassOf . ordo:Orphanet_616 a rdfs:Class ; rdfs:label "Medulloblastoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_281210 a rdfs:Class ; rdfs:label "X-linked ichthyosis syndrome" ; rdfs:comment "X-linked form of inherited ichthyosis syndromic form." ; rdfs:subClassOf ordo:Orphanet_281085 , . a rdfs:Class ; rdfs:label "Germany" . ordo:Orphanet_217049 a rdfs:Class ; rdfs:label "Rare non-syndromic cataract" ; rdfs:subClassOf ordo:Orphanet_98640 . ordo:Orphanet_34149 a rdfs:Class ; rdfs:label "Autosomal dominant medullary cystic kidney disease with or without hyperuricemia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_93587 . a rdfs:Class ; rdfs:label "nervous system cancer" ; rdfs:comment "An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "inherited hemoglobinopathy" ; rdfs:comment "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." ; rdfs:subClassOf ordo:Orphanet_68364 . ordo:Orphanet_325638 a rdfs:Class ; rdfs:label "Syndrome with disorder of sex development of gynecological interest" ; rdfs:subClassOf ordo:Orphanet_325665 . ordo:Orphanet_2785 a rdfs:Class ; rdfs:label "Osteopetrosis with renal tubular acidosis" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_314822 , ordo:Orphanet_377788 , ordo:Orphanet_667 . ordo:Orphanet_68363 a rdfs:Class ; rdfs:label "Rare dystonia"@en ; rdfs:subClassOf ordo:Orphanet_494457 . ordo:Orphanet_171918 a rdfs:Class ; rdfs:label "T-cell non-Hodgkin lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_547 . ordo:Orphanet_813 a rdfs:Class ; rdfs:label "Silver-Russell syndrome" ; rdfs:comment "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." ; rdfs:subClassOf ordo:Orphanet_183422 , ordo:Orphanet_183570 , ordo:Orphanet_330197 , ordo:Orphanet_377788 , ordo:Orphanet_68335 , . a rdfs:Class ; rdfs:label "deficiency anemia" ; rdfs:subClassOf . ordo:Orphanet_223713 a rdfs:Class ; rdfs:label "Mitochondrial oxidative phosphorylation disorder" ; rdfs:subClassOf ordo:Orphanet_79224 , . ordo:Orphanet_100090 a rdfs:Class ; rdfs:label "Rare parathyroid tumor"@en ; rdfs:subClassOf ordo:Orphanet_182130 , ordo:Orphanet_68415 . ordo:Orphanet_319581 a rdfs:Class ; rdfs:label "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_319543 , ordo:Orphanet_377788 . ordo:Orphanet_183576 a rdfs:Class ; rdfs:label "Genetic branchial arch or oral-acral syndrome" ; rdfs:subClassOf ordo:Orphanet_183530 , . ordo:Orphanet_268357 a rdfs:Class ; rdfs:label "Neural tube closure defect" ; rdfs:comment "A disease that has its basis in the disruption of neural tube closure." ; rdfs:subClassOf ordo:Orphanet_3388 . a rdfs:Class ; rdfs:label "reproductive system neoplasm" ; rdfs:comment "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system." ; rdfs:subClassOf , . ordo:Orphanet_155896 a rdfs:Class ; rdfs:label "Otomandibular dysplasia" ; rdfs:subClassOf ordo:Orphanet_96333 , . a rdfs:Class ; rdfs:label "adrenal gland cancer" ; rdfs:comment "A malignant neoplasm involving the adrenal gland" ; rdfs:subClassOf , , . ordo:Orphanet_93270 a rdfs:Class ; rdfs:label "Short rib-polydactyly syndrome, Saldino-Noonan type" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_1505 , ordo:Orphanet_377789 . ordo:Orphanet_98362 a rdfs:Class ; rdfs:label "Constitutional sideroblastic anemia" ; rdfs:subClassOf ordo:Orphanet_183651 , . ordo:Orphanet_229720 a rdfs:Class ; rdfs:label "Syndromic agammaglobulinemia" ; rdfs:comment "A agammaglobulinemia that is part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183669 , . ordo:Orphanet_579 a rdfs:Class ; rdfs:label "Mucopolysaccharidosis type 1" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_79213 , ordo:Orphanet_93448 , ordo:Orphanet_98596 , ordo:Orphanet_98711 , . a rdfs:Class ; rdfs:label "prostate carcinoma" ; rdfs:comment "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" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "disease of signal transduction" ; rdfs:subClassOf . ordo:Orphanet_79644 a rdfs:Class ; rdfs:label "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency" ; rdfs:subClassOf ordo:Orphanet_165988 , ordo:Orphanet_377788 , . ordo:Orphanet_325357 a rdfs:Class ; rdfs:label "46,XY disorder of sex development due to impaired androgen production" ; rdfs:subClassOf ordo:Orphanet_325351 , ordo:Orphanet_325713 . a rdfs:Class ; rdfs:label "diabetes insipidus" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Reproductive Process" ; rdfs:comment "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." ; rdfs:subClassOf . ordo:Orphanet_98287 a rdfs:Class ; rdfs:label "Histiocytic and dendritic cell tumor"@en ; rdfs:subClassOf ordo:Orphanet_171898 . ordo:Orphanet_69061 a rdfs:Class ; rdfs:label "Idiopathic steroid-sensitive nephrotic syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377792 . a rdfs:Class ; rdfs:label "catalog" ; rdfs:comment "A data catalog is a curated collection of metadata about datasets." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hypopituitarism" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "indeterminate sex and/or pseudohermaphroditism" ; rdfs:subClassOf ordo:Orphanet_325690 . a rdfs:Class ; rdfs:label "autoinflammatory syndrome with skin involvement" ; rdfs:subClassOf , . ordo:Orphanet_404443 a rdfs:Class ; rdfs:label "Tall stature-intellectual disability-facial dysmorphism syndrome" ; rdfs:subClassOf ordo:Orphanet_102283 , ordo:Orphanet_183763 , ordo:Orphanet_377789 , , . ordo:Orphanet_280062 a rdfs:Class ; rdfs:label "Calciphylaxis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "sphingolipidosis with epilepsy" ; rdfs:subClassOf , ordo:Orphanet_79225 . ordo:Orphanet_1203 a rdfs:Class ; rdfs:label "Duodenal atresia" ; rdfs:comment "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." ; rdfs:subClassOf ordo:Orphanet_108963 , ordo:Orphanet_108967 , ordo:Orphanet_377791 , . ordo:Orphanet_98675 a rdfs:Class ; rdfs:label "Autosomal recessive optic atrophy" ; rdfs:subClassOf ordo:Orphanet_103 . ordo:Orphanet_273 a rdfs:Class ; rdfs:label "Steinert myotonic dystrophy" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_181441 , ordo:Orphanet_206647 , ordo:Orphanet_217595 , ordo:Orphanet_377788 , ordo:Orphanet_98578 , ordo:Orphanet_98648 , ordo:Orphanet_98689 , , . ordo:Orphanet_165991 a rdfs:Class ; rdfs:label "Exercise-induced hyperinsulinism" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_309001 , ordo:Orphanet_377788 , . ordo:Orphanet_100049 a rdfs:Class ; rdfs:label "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_264992 , . a rdfs:Class ; rdfs:label "embryonal neoplasm" ; rdfs:comment " mass of rapidly growing cells that begins in embryonic (fetal) tissue. Embryonal tumors may be benign or malignant, and include neuroblastomas and Wilms tumors" ; rdfs:subClassOf . ordo:Orphanet_181381 a rdfs:Class ; rdfs:label "Other rare diabetes mellitus"@en ; rdfs:subClassOf ordo:Orphanet_101952 . ordo:Orphanet_77 a rdfs:Class ; rdfs:label "Aniridia" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_98554 , ordo:Orphanet_98634 , . ordo:Orphanet_95 a rdfs:Class ; rdfs:label "Friedreich ataxia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_207028 , ordo:Orphanet_217595 , ordo:Orphanet_377788 , ordo:Orphanet_68385 , ordo:Orphanet_98098 , ordo:Orphanet_98694 . ordo:Orphanet_369955 a rdfs:Class ; rdfs:label "Methylmalonic acidemia with homocystinuria, type cblJ" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_26 , ordo:Orphanet_377796 . ordo:Orphanet_165652 a rdfs:Class ; rdfs:label "Rare genetic gastroenterological disease" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "lung disease" ; rdfs:comment "Pathological processes involving any part of the LUNG." ; rdfs:subClassOf , . ordo:Orphanet_2913 a rdfs:Class ; rdfs:label "Polydactyly" ; rdfs:comment "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits." ; rdfs:subClassOf ordo:Orphanet_93458 , . a rdfs:Class ; rdfs:label "Polycystic Kidney Disease" ; rdfs:comment "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 ]" ; rdfs:subClassOf . ordo:Orphanet_101985 a rdfs:Class ; rdfs:label "Quantitative and/or qualitative congenital phagocyte defect"@en ; rdfs:subClassOf ordo:Orphanet_101988 . ordo:Orphanet_96264 a rdfs:Class ; rdfs:label "49,XXXXY syndrome" ; rdfs:comment "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_165707 , ordo:Orphanet_263720 , ordo:Orphanet_325546 , ordo:Orphanet_377789 , ordo:Orphanet_71859 , ordo:Orphanet_98313 , , . ordo:Orphanet_325620 a rdfs:Class ; rdfs:label "Disorder of sex development of gynecological interest"@en ; rdfs:subClassOf ordo:Orphanet_96344 . a rdfs:Class ; rdfs:label "hyperinsulinism (disease)" ; rdfs:comment "Abnormally high levels of insulin in the blood." ; rdfs:subClassOf , . ordo:Orphanet_290839 a rdfs:Class ; rdfs:label "Autoinflammatory syndrome with immune deficiency" ; rdfs:subClassOf ordo:Orphanet_101988 , , . a rdfs:Class ; rdfs:label "basal ganglia disease" ; rdfs:comment "A disease involving the basal ganglia." ; rdfs:subClassOf . ordo:Orphanet_347 a rdfs:Class ; rdfs:label "Frasier syndrome" ; rdfs:comment "Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_102373 , ordo:Orphanet_183422 , ordo:Orphanet_325638 , ordo:Orphanet_377788 , ordo:Orphanet_98087 , . a rdfs:Class ; rdfs:label "deficient breast volume or number" ; rdfs:subClassOf . ordo:Orphanet_98813 a rdfs:Class ; rdfs:label "Hypohidrotic ectodermal dysplasia with immunodeficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_238468 , ordo:Orphanet_331193 , ordo:Orphanet_377796 , . ordo:Orphanet_2298 a rdfs:Class ; rdfs:label "Insulin-resistance syndrome type B" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_181368 , ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "microcytic anemia" ; rdfs:comment "Anemia in which the red blood cell volume is decreased." ; rdfs:subClassOf . ordo:Orphanet_238455 a rdfs:Class ; rdfs:label "Infantile dystonia-parkinsonism" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_307055 , ordo:Orphanet_377788 , ordo:Orphanet_391711 , . ordo:Orphanet_79174 a rdfs:Class ; rdfs:label "Disorder of fatty acid oxidation and ketone body metabolism" ; rdfs:subClassOf ordo:Orphanet_79200 . ordo:Orphanet_420699 a rdfs:Class ; rdfs:label "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "methylmalonic acidemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_289899 . a rdfs:Class ; rdfs:label "pituitary gland disease" ; rdfs:comment "A disease involving the pituitary gland." ; rdfs:subClassOf , . ordo:Orphanet_35878 a rdfs:Class ; rdfs:label "Hyperinsulinism-hyperammonemia syndrome" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_377788 , ordo:Orphanet_79167 , . ordo:Orphanet_101940 a rdfs:Class ; rdfs:label "Rare metabolic liver disease" ; rdfs:subClassOf ordo:Orphanet_156601 , ordo:Orphanet_57146 . ordo:Orphanet_182231 a rdfs:Class ; rdfs:label "Rare rheumatologic disease"@en ; rdfs:subClassOf ordo:Orphanet_98023 . a rdfs:Class ; rdfs:label "inborn metal metabolism disorder" ; rdfs:comment "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." ; rdfs:subClassOf ordo:Orphanet_68367 . a rdfs:Class ; rdfs:label "ectropion (disease)" ; rdfs:comment "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "dysostosis with limb anomaly as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_276556 a rdfs:Class ; rdfs:label "Hyperinsulinism due to UCP2 deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_165985 , ordo:Orphanet_377788 . ordo:Orphanet_31153 a rdfs:Class ; rdfs:label "Hypoalphalipoproteinemia" ; rdfs:comment "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." ; rdfs:subClassOf ordo:Orphanet_181431 . ordo:Orphanet_181393 a rdfs:Class ; rdfs:label "Growth hormone insensitivity syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_183628 , , , . a rdfs:Class ; rdfs:label "eye disease" ; rdfs:comment "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." ; rdfs:subClassOf , . ordo:Orphanet_248361 a rdfs:Class ; rdfs:label "Rare thrombotic disorder due to a constitutional coagulation factors defect" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_183654 , ordo:Orphanet_248358 , . ordo:Orphanet_91088 a rdfs:Class ; rdfs:label "Other metabolic disease" ; rdfs:subClassOf ordo:Orphanet_68367 . a rdfs:Class ; rdfs:label "dystonic disorder" ; rdfs:comment "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." ; rdfs:subClassOf . ordo:Orphanet_140944 a rdfs:Class ; rdfs:label "CLOVE syndrome" ; rdfs:comment "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi." ; rdfs:subClassOf ordo:Orphanet_183484 , ordo:Orphanet_183487 , ordo:Orphanet_377789 , , , , , , . a rdfs:Class ; rdfs:label "eyelid neoplasm" ; rdfs:comment "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma." ; rdfs:subClassOf , , . ordo:Orphanet_98078 a rdfs:Class ; rdfs:label "46,XX disorder of sex development induced by androgens excess"@en ; rdfs:subClassOf ordo:Orphanet_2982 , ordo:Orphanet_325620 . ordo:Orphanet_30391 a rdfs:Class ; rdfs:label "Biliary atresia" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_108971 , ordo:Orphanet_156607 , ordo:Orphanet_377791 , , . ordo:Orphanet_93447 a rdfs:Class ; rdfs:label "Primary bone dysplasia with defective bone mineralization" ; rdfs:subClassOf ordo:Orphanet_364526 . a rdfs:Class ; rdfs:label "familial osteosclerosis" ; rdfs:comment "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf , . ordo:Orphanet_102015 a rdfs:Class ; rdfs:label "Autosomal recessive limb-girdle muscular dystrophy" ; rdfs:comment "Autosomal recessive form of limb-girdle muscular dystrophy." ; rdfs:subClassOf ordo:Orphanet_263 , . ordo:Orphanet_365563 a rdfs:Class ; rdfs:label "Primary short bowel syndrome" ; rdfs:subClassOf ordo:Orphanet_165655 , . ordo:Orphanet_1172 a rdfs:Class ; rdfs:label "Autosomal recessive cerebellar ataxia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183518 , ordo:Orphanet_98539 , ordo:Orphanet_98693 , , , , . ordo:Orphanet_281097 a rdfs:Class ; rdfs:label "Autosomal recessive congenital ichthyosis" ; rdfs:comment "Autosomal recessive form of inherited ichthyosis." ; rdfs:subClassOf ordo:Orphanet_281082 , ordo:Orphanet_98571 , . a rdfs:Class ; rdfs:label "complex neurodevelopmental disorder" ; rdfs:comment "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)." ; rdfs:subClassOf . ordo:Orphanet_590 a rdfs:Class ; rdfs:label "Congenital myasthenic syndromes" ; rdfs:comment "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_98495 , ordo:Orphanet_98578 , ordo:Orphanet_98690 , , . ordo:Orphanet_98657 a rdfs:Class ; rdfs:label "Genetic vitreous-retinal disease" ; rdfs:subClassOf ordo:Orphanet_101435 , , , . ordo:Orphanet_97548 a rdfs:Class ; rdfs:label "Ivemark syndrome" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_271853 , ordo:Orphanet_377789 , ordo:Orphanet_93547 , . ordo:Orphanet_90793 a rdfs:Class ; rdfs:label "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_399994 , ordo:Orphanet_400018 , ordo:Orphanet_418 , ordo:Orphanet_90786 , ordo:Orphanet_95710 , . ordo:Orphanet_183770 a rdfs:Class ; rdfs:label "Rare genetic immune disease" ; rdfs:subClassOf ordo:Orphanet_98053 , , . a rdfs:Class ; rdfs:label "breast carcinoma" ; rdfs:comment "A carcinoma that arises from epithelial cells of the breast" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "skeletal system disease" ; rdfs:comment "Any disease which affects part of the skeletal system." ; rdfs:subClassOf . ordo:Orphanet_182114 a rdfs:Class ; rdfs:label "Rare urogenital tumor"@en ; rdfs:subClassOf ordo:Orphanet_101433 , ordo:Orphanet_98057 . ordo:Orphanet_399293 a rdfs:Class ; rdfs:label "Osteonecrosis of the jaw"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_626 a rdfs:Class ; rdfs:label "Large congenital melanocytic nevus" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_183487 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "inflammatory skin disease" ; rdfs:comment """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. """ ; rdfs:subClassOf . ordo:Orphanet_139024 a rdfs:Class ; rdfs:label "Overgrowth/obesity syndrome"@en ; rdfs:subClassOf ordo:Orphanet_93890 . ordo:Orphanet_666 a rdfs:Class ; rdfs:label "Osteogenesis imperfecta" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_93446 , . a rdfs:Class ; rdfs:label "Age at Diagnosis" ; rdfs:comment "The age of an individual at the time of initial pathologic diagnosis." ; rdfs:subClassOf , . ordo:Orphanet_371047 a rdfs:Class ; rdfs:label "Congenital disorder of glycosylation with neurological involvement" ; rdfs:subClassOf ordo:Orphanet_137 , ordo:Orphanet_68385 . a rdfs:Class ; rdfs:label "General Qualifier" ; rdfs:comment "A term that helps define and render another concept unique." ; rdfs:subClassOf . ordo:Orphanet_314432 a rdfs:Class ; rdfs:label "Spigelian hernia-cryptorchidism syndrome"@en ; rdfs:subClassOf ordo:Orphanet_377789 . ordo:Orphanet_99803 a rdfs:Class ; rdfs:label "Haddad syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_108969 , ordo:Orphanet_377789 , ordo:Orphanet_661 , . ordo:Orphanet_98429 a rdfs:Class ; rdfs:label "Rare coagulation disorder"@en ; rdfs:subClassOf ordo:Orphanet_97992 . ordo:Orphanet_281238 a rdfs:Class ; rdfs:label "Autosomal ichthyosis syndrome with prominent neurologics signs" ; rdfs:subClassOf ordo:Orphanet_281217 . a rdfs:Class ; rdfs:label "inherited aplastic anemia" ; rdfs:comment "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." ; rdfs:subClassOf , . ordo:Orphanet_329931 a rdfs:Class ; rdfs:label "C3 glomerulonephritis" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_329918 , ordo:Orphanet_377797 . ordo:Orphanet_163927 a rdfs:Class ; rdfs:label "Pustulosis palmaris et plantaris" ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_79385 , . a rdfs:Class ; rdfs:label "eyelid cancer" ; rdfs:comment "A cancer that involves the eyelid." ; rdfs:subClassOf , , . ordo:Orphanet_207122 a rdfs:Class ; rdfs:label "Qualitative or quantitative defects of fukutin" ; rdfs:subClassOf ordo:Orphanet_207113 . ordo:Orphanet_146 a rdfs:Class ; rdfs:label "Differentiated thyroid carcinoma"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "diabetes mellitus" ; rdfs:comment "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." ; rdfs:subClassOf , . ordo:Orphanet_181387 a rdfs:Class ; rdfs:label "Rare disorder with hypogonadotropic hypogonadism" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_174590 . ordo:Orphanet_68373 a rdfs:Class ; rdfs:label "Peroxisomal disease" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_68367 , ordo:Orphanet_71859 , . a rdfs:Class ; rdfs:label "pancreatic carcinoma" ; rdfs:comment "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)." ; rdfs:subClassOf , . ordo:Orphanet_168803 a rdfs:Class ; rdfs:label "Primary peritoneal tumor"@en ; rdfs:subClassOf ordo:Orphanet_165711 , ordo:Orphanet_98057 . a rdfs:Class ; rdfs:label "Speech Therapist" ; rdfs:subClassOf . ordo:Orphanet_79188 a rdfs:Class ; rdfs:label "Peroxisomal beta-oxidation disorder" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_309810 . ordo:Orphanet_100050 a rdfs:Class ; rdfs:label "Hereditary angioedema type 1" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_377795 , . a rdfs:Class ; rdfs:label "systemic disease with skin involvement" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "generalised epilepsy" ; rdfs:comment "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" ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Non-Neoplastic Bile Duct Disorder" ; rdfs:comment "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "European registry for congenital hyperinsulinsm" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Technology" ; rdfs:comment "Technology is the discipline dealing with the art or science of applying scientific knowledge to practical problems." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "esophageal disease" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_262119 a rdfs:Class ; rdfs:label "Partial deletion of the long arm of chromosome 15" ; rdfs:subClassOf ordo:Orphanet_98142 . ordo:Orphanet_575 a rdfs:Class ; rdfs:label "Muckle-Wells syndrome" ; rdfs:comment "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)." ; rdfs:subClassOf ordo:Orphanet_208650 , ordo:Orphanet_377788 , , . a rdfs:Class ; rdfs:label "inherited disease susceptibility" ; rdfs:comment "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." ; rdfs:subClassOf . ordo:Orphanet_276161 a rdfs:Class ; rdfs:label "Multiple endocrine neoplasia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_100094 , ordo:Orphanet_140162 , . ordo:Orphanet_79194 a rdfs:Class ; rdfs:label "Disorder of serine or glycine metabolism" ; rdfs:comment "An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process." ; rdfs:subClassOf . ordo:Orphanet_357506 a rdfs:Class ; rdfs:label "Genetic non-syndromic renal or urinary tract malformation" ; rdfs:comment "A renal or urinary tract malformation that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183539 . ordo:Orphanet_294953 a rdfs:Class ; rdfs:label "Limb overgrowth" ; rdfs:subClassOf ordo:Orphanet_109011 . ordo:Orphanet_281082 a rdfs:Class ; rdfs:label "Inherited non-syndromic ichthyosis" ; rdfs:comment "A inherited ichthyosis that is not part of a larger syndrome." ; rdfs:subClassOf ordo:Orphanet_183435 . a rdfs:Class ; rdfs:label "Full Term Birth" ; rdfs:comment "Birth at 39 weeks and 0 days through 40 weeks and 6 days." ; rdfs:subClassOf . ordo:Orphanet_217635 a rdfs:Class ; rdfs:label "Familial restrictive cardiomyopathy" ; rdfs:comment "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_98054 , , . a rdfs:Class ; rdfs:label "syndromic disease" ; rdfs:comment "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "prostate neoplasm" ; rdfs:comment "A neoplasm (disease) that involves the prostate gland." ; rdfs:subClassOf , . ordo:Orphanet_101956 a rdfs:Class ; rdfs:label "Polyendocrinopathy"@en ; rdfs:subClassOf ordo:Orphanet_97978 . ordo:Orphanet_31837 a rdfs:Class ; rdfs:label "Pulmonary venoocclusive disease" ; rdfs:comment "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , . ordo:Orphanet_98896 a rdfs:Class ; rdfs:label "Duchenne muscular dystrophy" ; rdfs:comment "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." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_262 , ordo:Orphanet_377788 , ordo:Orphanet_98689 , . a rdfs:Class ; rdfs:label "inflammatory bowel disease" ; rdfs:comment "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "Portugal" . ordo:Orphanet_98695 a rdfs:Class ; rdfs:label "Mitochondrial disease with eye involvement" ; rdfs:subClassOf ordo:Orphanet_98710 . a rdfs:Class ; rdfs:label "tumor of cranial and spinal nerves" ; rdfs:seeAlso ; rdfs:subClassOf . ordo:Orphanet_404560 a rdfs:Class ; rdfs:label "Familial atypical multiple mole melanoma syndrome" ; rdfs:subClassOf ordo:Orphanet_140162 , ordo:Orphanet_183487 , ordo:Orphanet_377788 . ordo:Orphanet_611 a rdfs:Class ; rdfs:label "Inclusion body myositis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_183598 a rdfs:Class ; rdfs:label "Rare genetic palpebral, lacrimal system and conjunctival disease" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_101435 , . a rdfs:Class ; rdfs:label "SMArtCARE" ; rdfs:comment "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:subClassOf . a rdfs:Class ; rdfs:label "neoplastic polyp" ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "myopia (disease)" ; rdfs:comment "The condition in which the individual does not see far distances clearly." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Grandmother" ; rdfs:comment "The mother of your father or mother." ; rdfs:subClassOf . ordo:Orphanet_98570 a rdfs:Class ; rdfs:label "Congenital ectropion" ; rdfs:subClassOf ordo:Orphanet_98567 , . a rdfs:Class ; rdfs:label "Information Sciences" ; rdfs:comment "The sciences concerned with gathering and manipulating and storing and retrieving and classifying recorded information." ; rdfs:subClassOf . ordo:Orphanet_183616 a rdfs:Class ; rdfs:label "Genetic neuro-ophthalmological disease" ; rdfs:subClassOf ordo:Orphanet_101435 . ordo:Orphanet_535 a rdfs:Class ; rdfs:label "Rare cutaneous lupus erythematosus"@en ; rdfs:subClassOf ordo:Orphanet_315350 . ordo:Orphanet_263726 a rdfs:Class ; rdfs:label "Partial deletion of chromosome X" ; rdfs:subClassOf ordo:Orphanet_98159 . ordo:Orphanet_846 a rdfs:Class ; rdfs:label "Alpha-thalassemia" ; rdfs:comment "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." ; rdfs:subClassOf ordo:Orphanet_275745 , ordo:Orphanet_377788 , ordo:Orphanet_93614 . ordo:Orphanet_264740 a rdfs:Class ; rdfs:label "Primary interstitial lung disease specific to adulthood"@en ; rdfs:subClassOf ordo:Orphanet_264735 . ordo:Orphanet_99819 a rdfs:Class ; rdfs:label "Familial gestational hyperthyroidism" ; rdfs:subClassOf ordo:Orphanet_156629 , ordo:Orphanet_181399 , ordo:Orphanet_377788 , . a rdfs:Class ; rdfs:label "hypertension" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Age Unit" ; rdfs:comment "Those units of time that are routinely used to express the age of a person or thing." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Primary Cause of Death" ; rdfs:comment "The first significant event which ultimately led to death." ; rdfs:subClassOf . ordo:Orphanet_97992 a rdfs:Class ; rdfs:label "Rare hematologic disease"@en ; rdfs:subClassOf ordo:Orphanet_377794 . a rdfs:Class ; rdfs:label "intestinal neoplasm" ; rdfs:comment "A benign or malignant neoplasm involving the small or large intestine." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "mixed neoplasm" ; rdfs:comment "A neoplasm composed of at least two distinct cellular populations." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "hyperostosis" ; rdfs:comment "Excessive thickening of bone." ; rdfs:subClassOf . ordo:Orphanet_156629 a rdfs:Class ; rdfs:label "Genetic hypertension" ; rdfs:comment "An instance of hypertension that is caused by a modification of the individual's genome." ; rdfs:subClassOf ordo:Orphanet_98056 , , . a rdfs:Class ; rdfs:label "glycogen storage disease type 1 due to SLC37A4 mutation" ; rdfs:comment "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_364 . a rdfs:Class ; rdfs:label "neuropathy" ; rdfs:comment "A disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness." ; rdfs:subClassOf . ordo:Orphanet_90050 a rdfs:Class ; rdfs:label "Retinopathy of prematurity"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "Hungary" . ordo:Orphanet_36913 a rdfs:Class ; rdfs:label "Autoimmune hypoparathyroidism"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_223735 a rdfs:Class ; rdfs:label "Lymphoma"@en ; rdfs:subClassOf ordo:Orphanet_171898 . a rdfs:Class ; rdfs:label "blood platelet disease" ; rdfs:comment "Disorders caused by abnormalities in platelet count or function." ; rdfs:subClassOf , . a rdfs:Class ; rdfs:label "non-syndromic diaphragmatic or abdominal wall malformation" ; rdfs:comment "A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome." ; rdfs:subClassOf . ordo:Orphanet_79445 a rdfs:Class ; rdfs:label "Pseudopseudohypoparathyroidism" ; rdfs:comment "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)." ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_377788 , ordo:Orphanet_665 . a rdfs:Class ; rdfs:label "chromosomal anomaly with epilepsy as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf , , ordo:Orphanet_68335 , ordo:Orphanet_71859 . a rdfs:Class ; rdfs:label "First Degree Relative" ; rdfs:comment "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)" ; rdfs:subClassOf . ordo:Orphanet_3287 a rdfs:Class ; rdfs:label "Takayasu arteritis"@en ; rdfs:subClassOf ordo:Orphanet_377788 . ordo:Orphanet_86872 a rdfs:Class ; rdfs:label "T-cell large granular lymphocyte leukemia"@en ; rdfs:subClassOf ordo:Orphanet_377788 . a rdfs:Class ; rdfs:label "avascular necrosis" ; rdfs:comment "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." ; rdfs:subClassOf . a rdfs:Class ; rdfs:label "Soft Tissue Neoplasm" ; rdfs:comment "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." ; rdfs:subClassOf , . ordo:Orphanet_364571 a rdfs:Class ; rdfs:label "Dysostosis with limb and face anomalies as a major feature" ; rdfs:seeAlso ; rdfs:subClassOf ordo:Orphanet_404571 . ordo:Orphanet_262653 a rdfs:Class ; rdfs:label "Partial duplication of chromosome 11" ; rdfs:subClassOf ordo:Orphanet_98132 . a rdfs:Class ; rdfs:label "Action" ; rdfs:comment "A thing done." ; rdfs:subClassOf . a rdf:Property ; rdfs:range xsd:string . a rdf:Property ; rdfs:range xsd:string . a rdf:Property ; rdfs:range xsd:string . a rdf:Property ; rdfs:label "has attribute"@en ; rdfs:range xsd:string ; rdfs:subPropertyOf . a rdf:Property ; rdfs:label "has source"@en ; rdfs:range xsd:string ; rdfs:subPropertyOf . a rdf:Property ; rdfs:label "is creator of"@en ; rdfs:range xsd:string ; rdfs:subPropertyOf . a rdf:Property ; rdfs:range . a rdf:Property ; rdfs:label "is provider of"@en ; rdfs:range xsd:string ; rdfs:subPropertyOf . a rdf:Property ; rdfs:label "is related to"@en ; rdfs:comment "'is related to' is the top level relation in SIO"@en ; rdfs:range . a rdf:Property ; rdfs:label "is source of"@en ; rdfs:range xsd:string ; rdfs:subPropertyOf . a rdf:Property ; rdfs:label "is transitively related to"@en ; rdfs:range .