Matches in Ubergraph for { <http://purl.obolibrary.org/obo/HP_0032657> ?p ?o ?g. }
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- HP_0032657 BFO_0000051 BFO_0000001 @default.
- HP_0032657 BFO_0000051 BFO_0000002 @default.
- HP_0032657 BFO_0000051 BFO_0000020 @default.
- HP_0032657 BFO_0000051 COB_0000502 @default.
- HP_0032657 BFO_0000051 FYPO_0000001 @default.
- HP_0032657 BFO_0000051 OBA_0000001 @default.
- HP_0032657 BFO_0000051 OBA_0100002 @default.
- HP_0032657 BFO_0000051 OBA_VT0002121 @default.
- HP_0032657 BFO_0000051 PATO_0000001 @default.
- HP_0032657 COB_0000047 BFO_0000001 @default.
- HP_0032657 COB_0000047 BFO_0000002 @default.
- HP_0032657 COB_0000047 BFO_0000020 @default.
- HP_0032657 COB_0000047 COB_0000502 @default.
- HP_0032657 COB_0000047 FYPO_0000001 @default.
- HP_0032657 COB_0000047 OBA_0000001 @default.
- HP_0032657 COB_0000047 OBA_0100002 @default.
- HP_0032657 COB_0000047 OBA_VT0002121 @default.
- HP_0032657 COB_0000047 PATO_0000001 @default.
- HP_0032657 IAO_0000115 "An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation." @default.
- HP_0032657 RO_0002131 BFO_0000001 @default.
- HP_0032657 RO_0002131 BFO_0000002 @default.
- HP_0032657 RO_0002131 BFO_0000020 @default.
- HP_0032657 RO_0002131 COB_0000502 @default.
- HP_0032657 RO_0002131 FYPO_0000001 @default.
- HP_0032657 RO_0002131 OBA_0000001 @default.
- HP_0032657 RO_0002131 OBA_0100002 @default.
- HP_0032657 RO_0002131 OBA_VT0002121 @default.
- HP_0032657 RO_0002131 PATO_0000001 @default.
- HP_0032657 RO_0002323 BFO_0000001 @default.
- HP_0032657 RO_0002323 BFO_0000002 @default.
- HP_0032657 RO_0002323 BFO_0000020 @default.
- HP_0032657 RO_0002323 COB_0000502 @default.
- HP_0032657 RO_0002323 FYPO_0000001 @default.
- HP_0032657 RO_0002323 OBA_0000001 @default.
- HP_0032657 RO_0002323 OBA_0100002 @default.
- HP_0032657 RO_0002323 OBA_VT0002121 @default.
- HP_0032657 RO_0002323 PATO_0000001 @default.
- HP_0032657 UPHENO_0000001 BFO_0000001 @default.
- HP_0032657 UPHENO_0000001 BFO_0000003 @default.
- HP_0032657 UPHENO_0000001 BFO_0000015 @default.
- HP_0032657 UPHENO_0000001 COB_0000034 @default.
- HP_0032657 UPHENO_0000001 COB_0000037 @default.
- HP_0032657 UPHENO_0000001 FYPO_0000001 @default.
- HP_0032657 UPHENO_0000001 GO_0006629 @default.
- HP_0032657 UPHENO_0000001 GO_0008150 @default.
- HP_0032657 UPHENO_0000001 GO_0008152 @default.
- HP_0032657 UPHENO_0000001 GO_0044238 @default.
- HP_0032657 UPHENO_0000001 GO_0071704 @default.
- HP_0032657 creator 0000-0002-0736-9199 @default.
- HP_0032657 normalizedInformationContent "100" @default.
- HP_0032657 referenceCount "1" @default.
- HP_0032657 type Class @default.
- HP_0032657 comment "Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes. Lysosomal accumulation of its substrate globotriaosylceramide (Gb3) that is prominent in endothelial cells is thought to cause the progressive renal insufficiency, cardiac involvement, and CNS pathology in Fabry patients. Plasma Lyso-Gb3 is considered to be a biomarker for Fabry disease." @default.
- HP_0032657 isDefinedBy hp.owl @default.
- HP_0032657 label "Elevated circulating lyso-globotriaosylsphingosine concentration" @default.
- HP_0032657 subClassOf FYPO_0000001 @default.
- HP_0032657 subClassOf FYPO_0000300 @default.
- HP_0032657 subClassOf FYPO_0001985 @default.
- HP_0032657 subClassOf FYPO_0005447 @default.
- HP_0032657 subClassOf HP_0000001 @default.
- HP_0032657 subClassOf HP_0000118 @default.
- HP_0032657 subClassOf HP_0001939 @default.
- HP_0032657 subClassOf HP_0003119 @default.
- HP_0032657 subClassOf HP_0032180 @default.
- HP_0032657 subClassOf HP_0032657 @default.
- HP_0032657 subClassOf MP_0000001 @default.
- HP_0032657 subClassOf MP_0005266 @default.
- HP_0032657 subClassOf MP_0005376 @default.
- HP_0032657 subClassOf MP_0013245 @default.
- HP_0032657 subClassOf UPHENO_0001001 @default.
- HP_0032657 category BiologicalEntity @default.
- HP_0032657 category DiseaseOrPhenotypicFeature @default.
- HP_0032657 category Entity @default.
- HP_0032657 category NamedThing @default.
- HP_0032657 category PathologicalEntityMixin @default.
- HP_0032657 category PhenotypicFeature @default.
- HP_0032657 category ThingWithTaxon @default.