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Summary Literature (0)
DOID:0111491 - combined oxidative phosphorylation deficiency 15

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.

Synonyms: COXPD15

Xenbase Genes : mtfmt


MIM:
MIM:614947 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

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), combined oxidative phosphorylation deficiency (is_a)