@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix schema: <https://schema.org/> .
@prefix rnc: <https://raras.org/class/> .
@prefix rnp: <https://raras.org/property/> .
@prefix biolink: <https://w3id.org/biolink/vocab/> .

<https://raras.org/ontology> a owl:Ontology ;
  dcterms:title "RarasNet Vocabulary"@en ;
  rdfs:comment "Classes and properties of the Raras rare disease knowledge graph."@en ;
  dcterms:license <https://creativecommons.org/publicdomain/zero/1.0/> ;
  owl:versionInfo "1.0.0" .

rnc:Disease a owl:Class ;
  rdfs:label "Disease"@en ;
  rdfs:comment "A rare disease."@en ;
  rdfs:isDefinedBy <https://raras.org/ontology> ;
  owl:equivalentClass <https://w3id.org/biolink/vocab/Disease> ;
  owl:equivalentClass <https://schema.org/MedicalCondition> .

rnc:Phenotype a owl:Class ;
  rdfs:label "Phenotype"@en ;
  rdfs:comment "A phenotypic feature from the Human Phenotype Ontology (HPO)."@en ;
  rdfs:isDefinedBy <https://raras.org/ontology> ;
  owl:equivalentClass <https://w3id.org/biolink/vocab/PhenotypicFeature> .

rnc:Gene a owl:Class ;
  rdfs:label "Gene"@en ;
  rdfs:comment "A human gene."@en ;
  rdfs:isDefinedBy <https://raras.org/ontology> ;
  owl:equivalentClass <https://w3id.org/biolink/vocab/Gene> .

rnc:Medication a owl:Class ;
  rdfs:label "Medication"@en ;
  rdfs:comment "A medication or therapeutic chemical entity."@en ;
  rdfs:isDefinedBy <https://raras.org/ontology> ;
  owl:equivalentClass <https://w3id.org/biolink/vocab/ChemicalEntity> .

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

rnc:Paper a owl:Class ;
  rdfs:label "Research Paper"@en ;
  rdfs:comment "A curated research publication."@en ;
  rdfs:isDefinedBy <https://raras.org/ontology> ;
  owl:equivalentClass <https://w3id.org/biolink/vocab/Publication> .

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

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

rnp:orphaCode a owl:DatatypeProperty ;
  rdfs:label "Orphanet code"@en ;
  rdfs:comment "Orphanet nomenclature code; the primary disease identifier."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:mondoId a owl:DatatypeProperty ;
  rdfs:label "MONDO ID"@en ;
  rdfs:comment "MONDO Disease Ontology identifier."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:omimId a owl:DatatypeProperty ;
  rdfs:label "OMIM ID"@en ;
  rdfs:comment "OMIM identifier (identifier only; no descriptive text is redistributed)."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:icd10Code a owl:DatatypeProperty ;
  rdfs:label "ICD-10 code"@en ;
  rdfs:comment "CID-10 code (Brazilian ICD-10 classification)."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:prevalenceClass a owl:DatatypeProperty ;
  rdfs:label "Prevalence class"@en ;
  rdfs:comment "Orphanet prevalence class."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:inheritance a owl:DatatypeProperty ;
  rdfs:label "Inheritance"@en ;
  rdfs:comment "Mode(s) of inheritance."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:ageOfOnset a owl:DatatypeProperty ;
  rdfs:label "Age of onset"@en ;
  rdfs:comment "Age(s) of onset, HPO-aligned."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:clinicalDescription a owl:DatatypeProperty ;
  rdfs:label "Clinical description"@en ;
  rdfs:comment "Clinical description in Brazilian Portuguese."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:activeTrialCount a owl:DatatypeProperty ;
  rdfs:label "Active trial count"@en ;
  rdfs:comment "Number of active clinical trials."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#integer> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:paperCount a owl:DatatypeProperty ;
  rdfs:label "Paper count"@en ;
  rdfs:comment "Number of curated research papers."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#integer> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:susCoverageScore a owl:DatatypeProperty ;
  rdfs:label "SUS coverage score"@en ;
  rdfs:comment "Brazilian SUS coverage score for the disease."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#decimal> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:wikidataId a owl:DatatypeProperty ;
  rdfs:label "Wikidata QID"@en ;
  rdfs:comment "Wikidata entity identifier (QID)."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:hpoId a owl:DatatypeProperty ;
  rdfs:label "HPO ID"@en ;
  rdfs:comment "Human Phenotype Ontology term identifier."@en ;
  rdfs:domain rnc:Phenotype ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:namePt a owl:DatatypeProperty ;
  rdfs:label "Portuguese name"@en ;
  rdfs:comment "Brazilian Portuguese label."@en ;
  rdfs:domain rnc:Phenotype ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:geneSymbol a owl:DatatypeProperty ;
  rdfs:label "Gene symbol"@en ;
  rdfs:comment "HGNC gene symbol."@en ;
  rdfs:domain rnc:Gene ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:hgncId a owl:DatatypeProperty ;
  rdfs:label "HGNC ID"@en ;
  rdfs:comment "HGNC gene identifier."@en ;
  rdfs:domain rnc:Gene ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#string> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:gnomadPLI a owl:DatatypeProperty ;
  rdfs:label "gnomAD pLI"@en ;
  rdfs:comment "gnomAD probability of loss-of-function intolerance."@en ;
  rdfs:domain rnc:Gene ;
  rdfs:range <http://www.w3.org/2001/XMLSchema#decimal> ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:hasPhenotype a owl:ObjectProperty ;
  rdfs:label "has phenotype"@en ;
  rdfs:comment "The disease presents this phenotype (HPO frequency-annotated)."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range rnc:Phenotype ;
  rdfs:isDefinedBy <https://raras.org/ontology> ;
  owl:equivalentProperty <https://w3id.org/biolink/vocab/has_phenotype> .

rnp:associatedGene a owl:ObjectProperty ;
  rdfs:label "associated gene"@en ;
  rdfs:comment "The disease is associated with this gene."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range rnc:Gene ;
  rdfs:isDefinedBy <https://raras.org/ontology> ;
  owl:equivalentProperty <https://w3id.org/biolink/vocab/gene_associated_with_condition> .

rnp:hasMedication a owl:ObjectProperty ;
  rdfs:label "has medication"@en ;
  rdfs:comment "The disease is treated with this medication."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range rnc:Medication ;
  rdfs:isDefinedBy <https://raras.org/ontology> ;
  owl:equivalentProperty <https://w3id.org/biolink/vocab/treats> .

rnp:hasSUSMedication a owl:ObjectProperty ;
  rdfs:label "has SUS medication"@en ;
  rdfs:comment "The disease is treated with this medication covered by the Brazilian SUS (CEAF)."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range rnc:Medication ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:hasTrial a owl:ObjectProperty ;
  rdfs:label "has trial"@en ;
  rdfs:comment "The disease has an associated clinical trial."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range rnc:ClinicalTrial ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:hasPaper a owl:ObjectProperty ;
  rdfs:label "has paper"@en ;
  rdfs:comment "The disease has a curated research paper."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range rnc:Paper ;
  rdfs:isDefinedBy <https://raras.org/ontology> .

rnp:hasReferenceCenter a owl:ObjectProperty ;
  rdfs:label "has reference center"@en ;
  rdfs:comment "The disease is treated at this reference center."@en ;
  rdfs:domain rnc:Disease ;
  rdfs:range rnc:ReferenceCenter ;
  rdfs:isDefinedBy <https://raras.org/ontology> .