mitochondrial complex IV deficiency nuclear type 14

Summary

DOID:0070499 - mitochondrial complex IV deficiency nuclear type 14

Disease Ontology Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2.

Synonyms: MC4DN14

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

: coa3

MIM:

MIM:619058 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14

MIM:619058 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14

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), COX deficiency, benign infantile mitochondrial myopathy (is_a)