phosphoglycerate dehydrogenase deficiency

Preferred Label : phosphoglycerate dehydrogenase deficiency;

MeSH note : mutation in PHGDH;

MeSH synonym : PHGDH deficiency;

Origin ID

C566618;

UMLS CUI

C1866174;

Automatic exact mappings (from CISMeF team)
- PHGDH deficiency [DO Concept]
Currated CISMeF NLP mapping
- 3 phosphoglycerate dehydrogenase deficiency [Disease (Nov.)]
- 3-Phosphoglycerate dehydrogenase deficiency [ORDO Disease]
- 3-Phosphoglycerate dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3-phosphoglycerate dehydrogenase deficiency [ICD-11 More detail]
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form [ORDO Disease]
- Phosphoglycerate dehydrogenase deficiency [OMIM Phenotype]
- phosphoglycerate dehydrogenase deficiency [Disease (Nov.)]
DO Cross reference
- PHGDH deficiency [DO Concept]
MeSH term(s) associated for indexing
- carbohydrate metabolism, inborn errors [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- phosphoglycerate dehydrogenase [MeSH Descriptor]
- psychomotor disorders [MeSH Descriptor]
- seizures [MeSH Descriptor]
Record concept(s)
- phosphoglycerate dehydrogenase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phosphoglycerate dehydrogenase deficiency [OMIM Phenotype]