Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd4065b7ed9b0b90b000affb03f6a4b7c> ?p ?o ?g. }
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- Bd4065b7ed9b0b90b000affb03f6a4b7c hasDbXref "Orphanet:75234" @default.
- Bd4065b7ed9b0b90b000affb03f6a4b7c type Axiom @default.
- Bd4065b7ed9b0b90b000affb03f6a4b7c annotatedProperty IAO_0000115 @default.
- Bd4065b7ed9b0b90b000affb03f6a4b7c annotatedSource MONDO_0019149 @default.
- Bd4065b7ed9b0b90b000affb03f6a4b7c annotatedTarget "Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption." @default.