mitochondrial complex IV deficiency nuclear type 6

Summary

DOID:0080358 - mitochondrial complex IV deficiency nuclear type 6

Disease Ontology Definition:A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.

Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2, MC4DN6

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

: cox15

MIM:

MIM:615119 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6; MC4DN6

MIM:615119 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6; MC4DN6

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)