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- B7d34ff95ea2be4fc9a824d0023a1e09b NCIT_P378 "NCI" @default.
- B7d34ff95ea2be4fc9a824d0023a1e09b type Axiom @default.
- B7d34ff95ea2be4fc9a824d0023a1e09b annotatedProperty IAO_0000115 @default.
- B7d34ff95ea2be4fc9a824d0023a1e09b annotatedSource NCIT_C133084 @default.
- B7d34ff95ea2be4fc9a824d0023a1e09b annotatedTarget "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.