mitochondrial complex IV deficiency nuclear type 9

Summary

DOID:0080359 - mitochondrial complex IV deficiency nuclear type 9

Disease Ontology Definition:A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.

Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3, MC4DN9

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: coa5

MIM:

MIM:616500 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9; MC4DN9

MIM:616500 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9; MC4DN9

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), COX deficiency, infantile mitochondrial myopathy (is_a)