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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: MC4DN9, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
Xenbase Genes
:
coa5
| 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
Parent(s):
autosomal recessive disease (is_a),
COX deficiency, infantile mitochondrial myopathy (is_a)