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Metadata
ID DOID:0050722
Name PHGDH deficiency
Definition A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase, http://www.ncbi.nlm.nih.gov/pubmed?term=18296366, http://www.omim.org/entry/601815
Xrefs

MESH:C566618

MIM:601815

Synonyms

PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY [EXACT]

Parent Relationships

is_a serine deficiency

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