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Summary Literature (0)
DOID:0111263 - combined malonic and methylmalonic acidemia


Disease Ontology Definition:An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.

Synonyms: CMAMMA, combined malonic and methylmalonic aciduria

In OMIM:
OMIM:614265 - COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : acsf3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), organic acidemia (is_a)