mitochondrial complex IV deficiency nuclear type 2

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Summary

Literature (0)

DOID:0080357 - mitochondrial complex IV deficiency nuclear type 2

Disease Ontology Definition:A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.

Synonyms: MC4DN2, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1,

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

: sco2

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)