mitochondrial complex IV deficiency nuclear type 4

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Summary

Literature (0)

DOID:0070493 - mitochondrial complex IV deficiency nuclear type 4

Disease Ontology Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1.

Synonyms: MC4DN4,

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

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)