Matches in Ubergraph for { <http://purl.obolibrary.org/obo/HP_0020160> ?p ?o ?g. }
- HP_0020160 UPHENO_0000001 GO_0044255 @default.
- HP_0020160 UPHENO_0000001 GO_0071704 @default.
- HP_0020160 UPHENO_0000001 GO_1901135 @default.
- HP_0020160 UPHENO_0000001 GO_1901564 @default.
- HP_0020160 UPHENO_0000001 GO_1903509 @default.
- HP_0020160 UPHENO_0000001 UBERON_0000061 @default.
- HP_0020160 UPHENO_0000001 UBERON_0000465 @default.
- HP_0020160 UPHENO_0000001 UBERON_0001062 @default.
- HP_0020160 creator 0000-0002-0736-9199 @default.
- HP_0020160 normalizedInformationContent "100" @default.
- HP_0020160 referenceCount "1" @default.
- HP_0020160 creation_date "2019-07-06T19:48:26.000Z" @default.
- HP_0020160 type Class @default.
- HP_0020160 comment "At the neuropathological level, severe infantile GM1-gangliosidosis patients exhibit distended neurons that contain typical lamellar inclusions referred to as membranous cytoplasmic bodies which are also found in other lipidoses. Although neurons are the primary target for storage, astrocytes may also appear abnormally vacuolated. Neuronal pathology in late onset forms is delayed and tends to be more severe in deeper structures of the brain than in the cortex. Inclusions in the liver are of fibrillar nature and are different from the lamellar bodies in neurons. Abnormal accumulation of GM1-ganglioside and, to a much lesser extent, its asialo-derivative GA1, in the brain is the most prominent biochemical feature." @default.
- HP_0020160 isDefinedBy hp.owl @default.
- HP_0020160 label "GM1-ganglioside accumulation" @default.
- HP_0020160 subClassOf FYPO_0000001 @default.
- HP_0020160 subClassOf FYPO_0000002 @default.
- HP_0020160 subClassOf FYPO_0000114 @default.
- HP_0020160 subClassOf FYPO_0000140 @default.
- HP_0020160 subClassOf FYPO_0000300 @default.
- HP_0020160 subClassOf FYPO_0000628 @default.
- HP_0020160 subClassOf FYPO_0000860 @default.
- HP_0020160 subClassOf FYPO_0001985 @default.
- HP_0020160 subClassOf FYPO_0003037 @default.
- HP_0020160 subClassOf FYPO_0005447 @default.
- HP_0020160 subClassOf HP_0000001 @default.
- HP_0020160 subClassOf HP_0000118 @default.
- HP_0020160 subClassOf HP_0001939 @default.
- HP_0020160 subClassOf HP_0004343 @default.
- HP_0020160 subClassOf HP_0004345 @default.
- HP_0020160 subClassOf HP_0010968 @default.
- HP_0020160 subClassOf HP_0010969 @default.
- HP_0020160 subClassOf HP_0020160 @default.
- HP_0020160 subClassOf HP_0032243 @default.
- HP_0020160 subClassOf MP_0000001 @default.
- HP_0020160 subClassOf MP_0005266 @default.
- HP_0020160 subClassOf MP_0005376 @default.
- HP_0020160 subClassOf MP_0013245 @default.
- HP_0020160 subClassOf UPHENO_0001001 @default.
- HP_0020160 subClassOf WBPhenotype_0000027 @default.
- HP_0020160 subClassOf WBPhenotype_0000519 @default.
- HP_0020160 subClassOf WBPhenotype_0000576 @default.
- HP_0020160 subClassOf WBPhenotype_0000577 @default.
- HP_0020160 subClassOf WBPhenotype_0000725 @default.
- HP_0020160 subClassOf WBPhenotype_0000886 @default.
- HP_0020160 category BiologicalEntity @default.
- HP_0020160 category DiseaseOrPhenotypicFeature @default.
- HP_0020160 category Entity @default.
- HP_0020160 category NamedThing @default.
- HP_0020160 category PathologicalEntityMixin @default.
- HP_0020160 category PhenotypicFeature @default.
- HP_0020160 category ThingWithTaxon @default.