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pyruvate carboxylase deficiency, infantile form

^ http://purl.obolibrary.org/obo/MONDO_0018141

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. [ Orphanet:353308 ]

Term info

database cross reference
  • UMLS:CN204538 (MONDO:equivalentTo)
  • Orphanet:353308 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

definition

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_353308, http://linkedlifedata.com/resource/umls/id/CN204538

has exact synonym

pyruvate carboxylase deficiency type A

has related synonym

pyruvate carboxylase deficiency, infantile type

id

MONDO:0018141

Term relations