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GENE - TERM ANNOTATION REPORT

RGD ID: 62279
Species: Mus musculus
RGD Object: Gene
Symbol: Phgdh
Name: 3-phosphoglycerate dehydrogenase
Acc ID: DOID:0080076
Term: Neu-Laxova syndrome 1
Definition: A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. (DO)
Definition Source(s): https://www.omim.org/entry/256520 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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