Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bea2ecc426ee58cf2526445898a1884cc> ?p ?o ?g. }
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- Bea2ecc426ee58cf2526445898a1884cc hasDbXref "Orphanet:75234" @default.
- Bea2ecc426ee58cf2526445898a1884cc type Axiom @default.
- Bea2ecc426ee58cf2526445898a1884cc annotatedProperty IAO_0000115 @default.
- Bea2ecc426ee58cf2526445898a1884cc annotatedSource MONDO_0019149 @default.
- Bea2ecc426ee58cf2526445898a1884cc 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.