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Summary Literature (0)
DOID:0070485 - mitochondrial complex IV deficiency nuclear type 23


Disease Ontology Definition:A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.

Synonyms: MC4DN23,

Xenbase Genes :



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), cytochrome-c oxidase deficiency disease (is_a)