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DOID:0070494 - mitochondrial complex IV deficiency nuclear type 7
Disease Ontology Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12.
Synonyms: MC4DN7,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
COX deficiency, benign infantile mitochondrial myopathy (is_a),
autosomal recessive disease (is_a)