Visualize Submit Comment
Metadata
ID DOID:0080359
Name mitochondrial complex IV deficiency nuclear type 9
Definition A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.
https://pubmed.ncbi.nlm.nih.gov/12928484/
Xrefs

OMIM:616500

UMLS_CUI:C4225154

Synonyms

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 [EXACT]

MC4DN9 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a COX deficiency, infantile mitochondrial myopathy

Add an item to the term tracker