Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba863ec29e45c17f0ba87996e5a7af637> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Ba863ec29e45c17f0ba87996e5a7af637 hasDbXref "Orphanet:14" @default.
- Ba863ec29e45c17f0ba87996e5a7af637 type Axiom @default.
- Ba863ec29e45c17f0ba87996e5a7af637 annotatedProperty IAO_0000115 @default.
- Ba863ec29e45c17f0ba87996e5a7af637 annotatedSource MONDO_0008692 @default.
- Ba863ec29e45c17f0ba87996e5a7af637 annotatedTarget "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." @default.