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Metadata
ID DOID:0070500
Name mitochondrial complex IV deficiency nuclear type 15
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/
Xrefs

MIM:619059

UMLS_CUI:C5436712

SKOS

exactMatch UMLS_CUI:C5436712

exactMatch MIM:619059

Synonyms

MC4DN15 [EXACT]

Parent Relationships

is_a COX deficiency, benign infantile mitochondrial myopathy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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