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- B50fa902d8d86bad908433ab9569bc723 hasDbXref "Orphanet:35705" @default.
- B50fa902d8d86bad908433ab9569bc723 type Axiom @default.
- B50fa902d8d86bad908433ab9569bc723 annotatedProperty IAO_0000115 @default.
- B50fa902d8d86bad908433ab9569bc723 annotatedSource MONDO_0018162 @default.
- B50fa902d8d86bad908433ab9569bc723 annotatedTarget "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency." @default.