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
Term information
- GARD:20752 (MONDO:GARD)
- MEDGEN:1842590 (MONDO:equivalentTo)
- Orphanet:254746 (MONDO:equivalentTo)
- UMLS:C0268192 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/C0268192
http://www.orpha.net/ORDO/Orphanet_254746
http://identifiers.org/medgen/1842590