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- B09d1e85fab36a1cdd85b5516bcced7e3 hasDbXref "Orphanet:275761" @default.
- B09d1e85fab36a1cdd85b5516bcced7e3 type Axiom @default.
- B09d1e85fab36a1cdd85b5516bcced7e3 annotatedProperty IAO_0000115 @default.
- B09d1e85fab36a1cdd85b5516bcced7e3 annotatedSource MONDO_0010204 @default.
- B09d1e85fab36a1cdd85b5516bcced7e3 annotatedTarget "Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." @default.