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methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (DOID:0060740)
Alliance: disease page
Synonyms: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; vitamin B12-unresponsive methylmalonic aciduria
Alt IDs: OMIM:251000, ICD10CM:E71.1, MESH:C565390, ORDO:27
Definition: A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.

Disease References using Mouse Models (9)
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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03/25/2025
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