Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7c8e127b7d29eae669389931a3002ef4> ?p ?o ?g. }
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- B7c8e127b7d29eae669389931a3002ef4 hasDbXref "Orphanet:284417" @default.
- B7c8e127b7d29eae669389931a3002ef4 type Axiom @default.
- B7c8e127b7d29eae669389931a3002ef4 annotatedProperty IAO_0000115 @default.
- B7c8e127b7d29eae669389931a3002ef4 annotatedSource MONDO_0012596 @default.
- B7c8e127b7d29eae669389931a3002ef4 annotatedTarget "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." @default.