FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term PHGDH deficiency ID (Ontology) DOID:0050722 (Human Disease)
Definition A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
Also Known As "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY"
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 PHGDH deficiency       1      1
 for disease ribbon | PHGDH deficiency       --       1
 model of | PHGDH deficiency       1      1
Spanning Tree (Parents/Children)
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  amino acid metabolic disorder
   |__serine deficiency
       |__PHGDH deficiency  2 rec.
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Is a serine deficiency
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Synonyms
  • "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY" EXACT
Secondary IDs
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MESH:C566618
MIM:601815