Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf83ae950ce7941bc56649905573a4055> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bf83ae950ce7941bc56649905573a4055 hasDbXref "Orphanet:79351" @default.
- Bf83ae950ce7941bc56649905573a4055 type Axiom @default.
- Bf83ae950ce7941bc56649905573a4055 annotatedProperty IAO_0000115 @default.
- Bf83ae950ce7941bc56649905573a4055 annotatedSource MONDO_0011152 @default.
- Bf83ae950ce7941bc56649905573a4055 annotatedTarget "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" @default.