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Metadata
ID DOID:0080360
Name mitochondrial complex IV deficiency nuclear type 13
Definition A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
https://pubmed.ncbi.nlm.nih.gov/25339201/
Xrefs

MIM:616501

UMLS_CUI:C4225304

SKOS

exactMatch UMLS_CUI:C4225304

exactMatch MIM:616501

Synonyms

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 [EXACT]

MC4DN13 [EXACT]

Parent Relationships

is_a COX deficiency, infantile mitochondrial myopathy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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