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- NCIT_C133084 IAO_0000115 "An autosomal recessive lysosomal storage disease caused by mutation(s) in the GM2A gene, encoding ganglioside GM2 activator. It is characterized by GM2-ganglioside accumulation in tissues resulting in hypotonia, cherry-red macular spots, and neurocognitive dysfunction." @default.
- NCIT_C133084 NCIT_NHC0 "C133084" @default.
- NCIT_C133084 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C133084 NCIT_P108 "GM2-Gangliosidosis, AB Variant" @default.
- NCIT_C133084 NCIT_P207 "C0268275" @default.
- NCIT_C133084 NCIT_P322 "Cellosaurus" @default.
- NCIT_C133084 normalizedInformationContent "100" @default.
- NCIT_C133084 referenceCount "1" @default.
- NCIT_C133084 hasExactSynonym "GM2-Gangliosidosis, AB Variant" @default.
- NCIT_C133084 hasExactSynonym "Tay-Sachs Disease, AB Variant" @default.
- NCIT_C133084 inSubset NCIT_C165258 @default.
- NCIT_C133084 inSubset NCIT_C192842 @default.
- NCIT_C133084 type Class @default.
- NCIT_C133084 isDefinedBy ncit.owl @default.
- NCIT_C133084 label "GM2-Gangliosidosis, AB Variant" @default.
- NCIT_C133084 subClassOf NCIT_C117254 @default.
- NCIT_C133084 subClassOf NCIT_C133084 @default.
- NCIT_C133084 subClassOf NCIT_C197908 @default.
- NCIT_C133084 subClassOf NCIT_C2991 @default.
- NCIT_C133084 subClassOf NCIT_C3235 @default.
- NCIT_C133084 subClassOf NCIT_C34816 @default.
- NCIT_C133084 subClassOf NCIT_C4873 @default.
- NCIT_C133084 subClassOf NCIT_C53529 @default.
- NCIT_C133084 subClassOf NCIT_C53543 @default.
- NCIT_C133084 subClassOf NCIT_C53547 @default.
- NCIT_C133084 subClassOf NCIT_C61250 @default.
- NCIT_C133084 subClassOf NCIT_C7057 @default.
- NCIT_C133084 subClassOf NCIT_C97092 @default.