Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B0179c217ef8c0a913e70912972970001> ?p ?o ?g. }
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- B0179c217ef8c0a913e70912972970001 hasDbXref "Orphanet:284417" @default.
- B0179c217ef8c0a913e70912972970001 type Axiom @default.
- B0179c217ef8c0a913e70912972970001 annotatedProperty IAO_0000115 @default.
- B0179c217ef8c0a913e70912972970001 annotatedSource MONDO_0012596 @default.
- B0179c217ef8c0a913e70912972970001 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.