mitochondrial complex IV deficiency nuclear type 15

Term ID

DOID:0070500

Synonyms

MC4DN15

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/26685157/

References

MIM:619059
UMLS_CUI:C5436712

Ontology

Human Disease ( DOID:0070500 )

Relationships

is a type of: autosomal recessive disease COX deficiency, benign infantile mitochondrial myopathy

autosomal recessive disease COX deficiency, benign infantile mitochondrial myopathy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models