PREFIX property: <https://raras.org/property/>
PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#>
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#>

<https://raras.org/class/ClinicalTrial> a rdfs:Class ;
  rdfs:label "Clinical Trial"@en ;
  rdfs:comment "A clinical study registered on ClinicalTrials.gov."@en .

<https://w3id.org/biolink/vocab/ChemicalEntity> a rdfs:Class .

<https://raras.org/class/Community> a rdfs:Class ;
  rdfs:label "Community"@en ;
  rdfs:comment "A patient support community."@en .

<https://raras.org/class/Medication> a rdfs:Class ;
  rdfs:label "Medication"@en ;
  rdfs:comment "A medication or therapeutic chemical entity."@en .

<https://w3id.org/biolink/vocab/Disease> a rdfs:Class .

<https://schema.org/MedicalCondition> a rdfs:Class .

<https://w3id.org/biolink/vocab/PhenotypicFeature> a rdfs:Class .

<https://raras.org/class/ReferenceCenter> a rdfs:Class ;
  rdfs:label "Reference Center"@en ;
  rdfs:comment "A CNES-coded center that treats rare diseases under the Brazilian SUS."@en .

<https://w3id.org/biolink/vocab/Publication> a rdfs:Class .

<https://raras.org/class/Paper> a rdfs:Class ;
  rdfs:label "Research Paper"@en ;
  rdfs:comment "A curated research publication."@en .

<https://raras.org/class/Gene> a rdfs:Class ;
  rdfs:label "Gene"@en ;
  rdfs:comment "A human gene."@en .

property:gnomadPLI a rdf:Property ;
  rdfs:label "gnomAD pLI"@en ;
  rdfs:comment "gnomAD probability of loss-of-function intolerance."@en ;
  rdfs:domain <https://raras.org/class/Gene> ;
  rdfs:range xsd:decimal .

property:geneSymbol a rdf:Property ;
  rdfs:label "Gene symbol"@en ;
  rdfs:comment "HGNC gene symbol."@en ;
  rdfs:domain <https://raras.org/class/Gene> ;
  rdfs:range xsd:string .

property:hgncId a rdf:Property ;
  rdfs:label "HGNC ID"@en ;
  rdfs:comment "HGNC gene identifier."@en ;
  rdfs:domain <https://raras.org/class/Gene> ;
  rdfs:range xsd:string .

<https://w3id.org/biolink/vocab/Gene> a rdfs:Class .

<https://raras.org/class/Disease> a rdfs:Class ;
  rdfs:label "Disease"@en ;
  rdfs:comment "A rare disease."@en .

property:hasTrial a rdf:Property ;
  rdfs:label "has trial"@en ;
  rdfs:comment "The disease has an associated clinical trial."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range <https://raras.org/class/ClinicalTrial> .

property:associatedGene a rdf:Property ;
  rdfs:label "associated gene"@en ;
  rdfs:comment "The disease is associated with this gene."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range <https://raras.org/class/Gene> .

property:ageOfOnset a rdf:Property ;
  rdfs:label "Age of onset"@en ;
  rdfs:comment "Age(s) of onset, HPO-aligned."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

property:orphaCode a rdf:Property ;
  rdfs:label "Orphanet code"@en ;
  rdfs:comment "Orphanet nomenclature code; the primary disease identifier."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

property:clinicalDescription a rdf:Property ;
  rdfs:label "Clinical description"@en ;
  rdfs:comment "Clinical description in Brazilian Portuguese."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

property:prevalenceClass a rdf:Property ;
  rdfs:label "Prevalence class"@en ;
  rdfs:comment "Orphanet prevalence class."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

property:hasPaper a rdf:Property ;
  rdfs:label "has paper"@en ;
  rdfs:comment "The disease has a curated research paper."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range <https://raras.org/class/Paper> .

property:wikidataId a rdf:Property ;
  rdfs:label "Wikidata QID"@en ;
  rdfs:comment "Wikidata entity identifier (QID)."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

property:hasMedication a rdf:Property ;
  rdfs:label "has medication"@en ;
  rdfs:comment "The disease is treated with this medication."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range <https://raras.org/class/Medication> .

property:mondoId a rdf:Property ;
  rdfs:label "MONDO ID"@en ;
  rdfs:comment "MONDO Disease Ontology identifier."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

property:omimId a rdf:Property ;
  rdfs:label "OMIM ID"@en ;
  rdfs:comment "OMIM identifier (identifier only; no descriptive text is redistributed)."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

property:hasReferenceCenter a rdf:Property ;
  rdfs:label "has reference center"@en ;
  rdfs:comment "The disease is treated at this reference center."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range <https://raras.org/class/ReferenceCenter> .

property:hasSUSMedication a rdf:Property ;
  rdfs:label "has SUS medication"@en ;
  rdfs:comment "The disease is treated with this medication covered by the Brazilian SUS (CEAF)."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range <https://raras.org/class/Medication> .

property:inheritance a rdf:Property ;
  rdfs:label "Inheritance"@en ;
  rdfs:comment "Mode(s) of inheritance."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

property:activeTrialCount a rdf:Property ;
  rdfs:label "Active trial count"@en ;
  rdfs:comment "Number of active clinical trials."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:integer .

property:susCoverageScore a rdf:Property ;
  rdfs:label "SUS coverage score"@en ;
  rdfs:comment "Brazilian SUS coverage score for the disease."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:decimal .

property:paperCount a rdf:Property ;
  rdfs:label "Paper count"@en ;
  rdfs:comment "Number of curated research papers."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:integer .

property:hasPhenotype a rdf:Property ;
  rdfs:label "has phenotype"@en ;
  rdfs:comment "The disease presents this phenotype (HPO frequency-annotated)."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range <https://raras.org/class/Phenotype> .

property:icd10Code a rdf:Property ;
  rdfs:label "ICD-10 code"@en ;
  rdfs:comment "CID-10 code (Brazilian ICD-10 classification)."@en ;
  rdfs:domain <https://raras.org/class/Disease> ;
  rdfs:range xsd:string .

<https://raras.org/class/Phenotype> a rdfs:Class ;
  rdfs:label "Phenotype"@en ;
  rdfs:comment "A phenotypic feature from the Human Phenotype Ontology (HPO)."@en .

property:hpoId a rdf:Property ;
  rdfs:label "HPO ID"@en ;
  rdfs:comment "Human Phenotype Ontology term identifier."@en ;
  rdfs:domain <https://raras.org/class/Phenotype> ;
  rdfs:range xsd:string .

property:namePt a rdf:Property ;
  rdfs:label "Portuguese name"@en ;
  rdfs:comment "Brazilian Portuguese label."@en ;
  rdfs:domain <https://raras.org/class/Phenotype> ;
  rdfs:range xsd:string .