assertion retraction graph subject predicate object datatype annotation 1 0 graph DOID:14499 IAO:0000115 A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. xsd:string "{""dce:type"":[{""datatype"":""_IRI"",""meta"":""owl:Axiom"",""object"":""obo:ECO_0007637""}],""oio:hasDbXref"":[{""datatype"":""xsd:string"",""meta"":""owl:Axiom"",""object"":""url:https://ghr.nlm.nih.gov/condition/fabry-disease""}]}" 1 0 graph DOID:14499 rdf:type owl:Class _IRI 1 0 graph DOID:14499 oio:hasExactSynonym Fabry Disease, Cardiac Variant xsd:string 1 0 graph DOID:14499 oio:hasExactSynonym Fabry's disease @en 1 0 graph DOID:14499 oio:hasExactSynonym Alpha-galactosidase A deficiency @en 1 0 graph DOID:14499 oio:hasDbXref ICD10CM:E75.21 xsd:string 1 0 graph DOID:14499 oio:inSubset obo:doid#NCIthesaurus _IRI 1 0 graph DOID:14499 oio:hasDbXref SNOMEDCT_US_2023_03_01:16652001 xsd:string 1 0 graph DOID:14499 oio:inSubset obo:doid#DO_rare_slim _IRI 1 0 graph DOID:14499 oio:hasOBONamespace disease_ontology xsd:string 1 0 graph DOID:14499 rdfs:comment OMIM mapping confirmed by DO. [SN]. xsd:string 1 0 graph DOID:14499 oio:hasExactSynonym deficiency of melibiase @en 1 0 graph DOID:14499 rdfs:label Fabry disease xsd:string 1 0 graph DOID:14499 oio:id DOID:14499 xsd:string 1 0 graph DOID:14499 oio:hasDbXref UMLS_CUI:C0002986 xsd:string 1 0 graph DOID:14499 oio:hasDbXref OMIM:301500 xsd:string 1 0 graph DOID:14499 oio:hasExactSynonym Angiokeratoma Corporis Diffusum @en 1 0 graph DOID:14499 rdfs:subClassOf DOID:1927 _IRI 1 0 graph DOID:14499 oio:hasDbXref MESH:D000795 xsd:string 1 0 graph DOID:14499 oio:hasExactSynonym alpha galactosidase deficiency @en