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pyruvate carboxylase deficiency, severe neonatal type

^ http://purl.obolibrary.org/obo/MONDO_0018142

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. [ Orphanet:353314 ]

Term info

database cross reference
  • UMLS:CN204539 (MONDO:equivalentTo)
  • Orphanet:353314 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

IAO 0000233

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

definition

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN204539, http://purl.obolibrary.org/obo/Orphanet_353314

has exact synonym

pyruvate carboxylase deficiency type B

id

MONDO:0018142

Term relations