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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

Xenbase Genes : acsf3


MIM:
MIM:614265 - COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), organic acidemia (is_a)