JSON

pyruvate carboxylase deficiency, benign type

^ http://purl.obolibrary.org/obo/MONDO_0018143

Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. [ Orphanet:353320 ]

Term info

database cross reference
  • UMLS:CN204540 (MONDO:equivalentTo)
  • Orphanet:353320 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

IAO 0000233

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

definition

Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_353320, http://linkedlifedata.com/resource/umls/id/CN204540

has exact synonym

pyruvate carboxylase deficiency type C

id

MONDO:0018143

Term relations