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PHGDH deficiency

^ http://purl.obolibrary.org/obo/MONDO_0011152

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form [ Orphanet:79351 ]

Term info

database cross reference
  • OMIM:601815 (Orphanet:79351/e)
  • Orphanet:79351 (OMIM:601815)
  • MESH:C566618 (MONDO:equivalentTo)
  • DOID:0050722 (MONDO:equivalentTo)
  • UMLS:C1866174 (OMIM:601815)
Subsets

ordo_disease

abbreviation
PHGDHD [ OMIM:601815 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

exactMatch

http://linkedlifedata.com/resource/umls/id/C1866174, http://purl.obolibrary.org/obo/DOID_0050722, http://purl.obolibrary.org/obo/Orphanet_79351, http://identifiers.org/mesh/C566618, https://omim.org/entry/601815

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

PHGDH deficiency, PHOSPHOGLYCERATE dehydrogenase deficiency

has related synonym

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form, PHGDHD

id

MONDO:0011152