General Information of Disease (ID: DISFFYB2)

Disease Name Pyruvate metabolism disorder
Synonyms inborn error of pyruvate metabolic process; inborn pyruvate metabolic process disorder; rare inborn error of pyruvate metabolic process
Definition An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DIS0J9MR: Inborn disorder of energy metabolism
DISTVTFI: Disorder of organic acid metabolism
DISWE0E0: Inborn disorder of amino acid and other organic acid metabolism
DISFFYB2: Pyruvate metabolism disorder
Disease Identifiers
MONDO ID
MONDO_0016789
UMLS CUI
C0268192
MedGen ID
1842590
Orphanet ID
254746