An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process. [ MONDO:patterns/inborn_metabolic ]

Synonyms: inborn error of pyruvate metabolic process inborn pyruvate metabolic process disorder rare inborn error of pyruvate metabolic process

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:254746 (MONDO:equivalentTo)
  • GARD:20752 (Orphanet:254746)
  • UMLS:CN226999 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

exactMatch

http://linkedlifedata.com/resource/umls/id/CN226999

http://www.orpha.net/ORDO/Orphanet_254746

id

MONDO:0016789