mitochondrial complex IV deficiency nuclear type 13

Summary

DOID:0080360 - mitochondrial complex IV deficiency nuclear type 13

Disease Ontology Definition:A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.

Synonyms: MC4DN13, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4,

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

: coa6

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): COX deficiency, infantile mitochondrial myopathy (is_a), autosomal recessive disease (is_a)