Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B5cac4481b11ddda9ff9db47d64ad5d39> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B5cac4481b11ddda9ff9db47d64ad5d39 hasDbXref "Orphanet:726" @default.
- B5cac4481b11ddda9ff9db47d64ad5d39 type Axiom @default.
- B5cac4481b11ddda9ff9db47d64ad5d39 annotatedProperty IAO_0000115 @default.
- B5cac4481b11ddda9ff9db47d64ad5d39 annotatedSource MONDO_0008758 @default.
- B5cac4481b11ddda9ff9db47d64ad5d39 annotatedTarget "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." @default.