|
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: MC4DN6, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2,
Xenbase Genes : cox15
Other Model Organisms: AGR, 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)