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PREFIX gdgdb_schema: <http://jcggdb.jp/rdf/diseases/gdgdb-schema#> PREFIX ggdonto: <http://jcggdb.jp/rdf/diseases/ggdonto#> PREFIX ggdonto_schema: <http://jcggdb.jp/rdf/diseases/ggdonto-schema#> PREFIX gmncbi_schema: <http://jcggdb.jp/rdf/diseases/gmncbi-schema#> PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#> PREFIX skos: <http://www.w3.org/2004/02/skos/core#> PREFIX dct: <http://purl.org/dc/terms/> PREFIX xsd: <http://www.w3.org/2001/XMLSchema#> <DiseaseConceptShape> { a [ skos:Concept ggdonto_schema:DiseaseDescriptionGGDonto ] ; dct:identifier xsd:string ; dct:references IRI + ; gdgdb_schema:conceptType IRI ; gdgdb_schema:conceptUI xsd:string ; gdgdb_schema:diseasePreferredTerm xsd:string ; gdgdb_schema:diseasePreferredTermAbbr xsd:string ; gdgdb_schema:diseaseSynonyms xsd:string + ; gdgdb_schema:diseaseType IRI ; gdgdb_schema:geneSymbolGGDB xsd:string ; gdgdb_schema:omimGene xsd:string ; gdgdb_schema:omimGeneMIMnumber xsd:string ; gdgdb_schema:omimPhenoMIMnumber xsd:string ; gdgdb_schema:referencesInfo xsd:string ; gdgdb_schema:umlsCODE xsd:string ; gdgdb_schema:umlsCUI xsd:string ; gdgdb_schema:umlsSAB xsd:string ; ggdonto_schema:brArthrogryposisGD IRI * ; ggdonto_schema:brCleftPalateMouthAbnormGD IRI * ; ggdonto_schema:brCleftPalateMusculoskeletalAbnormGD IRI * ; ggdonto_schema:brCleftPalateStomatognathicAbnormGD IRI * ; ggdonto_schema:brClubfootGD IRI * ; ggdonto_schema:brConnectiveTissueDisGD IRI * ; ggdonto_schema:brContractureGD IRI * ; ggdonto_schema:brCornealDystrophHeredCornealDisGD IRI * ; ggdonto_schema:brCornealDystrophHeredGD IRI * ; ggdonto_schema:brCraniofacialAbnormGD IRI * ; ggdonto_schema:brCryptorchidismGD IRI * ; ggdonto_schema:brDwarfismGD IRI * ; ggdonto_schema:brEyeDisHereditaryGD IRI * ; ggdonto_schema:brFootDeformCongenitalGD IRI * ; ggdonto_schema:brGastrointestinalDisGD IRI * ; ggdonto_schema:brGlaucomaGD IRI * ; ggdonto_schema:brHandDeformCongenitalGD IRI * ; ggdonto_schema:brHeartDisGD IRI * ; ggdonto_schema:brHemorrhageGD IRI * ; ggdonto_schema:brHerniaInguinalGD IRI * ; ggdonto_schema:brHypertelorismGD IRI * ; ggdonto_schema:brJointInstabilityGD IRI * ; ggdonto_schema:brKyphosisGD IRI * ; ggdonto_schema:brMaxillofacialAbnormMusculoskeletalAbnormGD IRI * ; ggdonto_schema:brMotorSkillsDisordGD IRI * ; ggdonto_schema:brMuscleHypotoniaGD IRI * ; ggdonto_schema:brMuscleWeaknessMuscularDisGD IRI * ; ggdonto_schema:brMuscleWeaknessNSDisGD IRI * ; ggdonto_schema:brMyopiaGD IRI * ; ggdonto_schema:brNephrosisFemaleUrogenDisGD IRI * ; ggdonto_schema:brNephrosisMaleUrogenDisGD IRI * ; ggdonto_schema:brPathwayGDnew IRI * ; ggdonto_schema:brRespiratoryTractDisGD IRI * ; ggdonto_schema:brRetinalDetachmentGD IRI * ; ggdonto_schema:brScoliosisGD IRI * ; ggdonto_schema:brSkinAbnormGD IRI * ; ggdonto_schema:brSkinDisGeneticGD IRI * ; ggdonto_schema:brUrogenitalAbnormFemaleUrogenDisGD IRI * ; ggdonto_schema:brUrogenitalAbnormMaleUrogenDisGD IRI * ; gmncbi_schema:causedBy IRI + ; gmncbi_schema:hasManifestation IRI + ; rdfs:label xsd:string ; rdfs:seeAlso IRI + ; skos:altLabel xsd:string * ; skos:closeMatch IRI * ; skos:inScheme IRI + ; skos:prefLabel xsd:string * ; skos:related IRI + }

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