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Disease Ontology Browser
pyruvate decarboxylase deficiency (DOID:3649)
Alliance: disease page
Synonyms: deficiency of pyruvic dehydrogenase; pyruvate dehydrogenase complex deficiency disease; pyruvate dehydrogenase deficiency
Alt IDs: OMIM:245348, OMIM:245349, OMIM:312170, OMIM:608782, OMIM:614111, ICD10CM:E74.4, MESH:D015325, NCI:C103968, ORDO:79243, UMLS_CUI:C0034345
Definition: A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory