OBO ID: DOID:0050722
Term Name: PHGDH deficiency Search Ontology:
Synonyms:
  • PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
Definition: A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (3)
References:
Ontology: Human Disease   ( DOID:0050722 )
OTHER PHGDH deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PHGDH Phosphoglycerate dehydrogenase deficiency 601815
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None