Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4da14d76677e5d93c1621cae3796c863> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- B4da14d76677e5d93c1621cae3796c863 hasDbXref "Orphanet:309111" @default.
- B4da14d76677e5d93c1621cae3796c863 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B4da14d76677e5d93c1621cae3796c863 type Axiom @default.
- B4da14d76677e5d93c1621cae3796c863 annotatedProperty IAO_0000115 @default.
- B4da14d76677e5d93c1621cae3796c863 annotatedSource MONDO_0017712 @default.
- B4da14d76677e5d93c1621cae3796c863 annotatedTarget "A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." @default.