mitochondrial complex IV deficiency nuclear type 1

Summary

DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1

Disease Ontology Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.

Synonyms: MC4DN1

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

: fastkd2, cox10, coa8, taco1, coa5, pet100, cox6b1, cox20, sco1, coa7, cox8a, cox14

MIM:

MIM:220110 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1

MIM:220110 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1

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)