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- Ba8404bc906f3a7bd4f8543a5de4ed71b hasDbXref "Orphanet:75233" @default.
- Ba8404bc906f3a7bd4f8543a5de4ed71b type Axiom @default.
- Ba8404bc906f3a7bd4f8543a5de4ed71b annotatedProperty IAO_0000115 @default.
- Ba8404bc906f3a7bd4f8543a5de4ed71b annotatedSource MONDO_0019148 @default.
- Ba8404bc906f3a7bd4f8543a5de4ed71b annotatedTarget "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues." @default.