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Metadata
ID	DOID:0070502
Name	mitochondrial complex IV deficiency nuclear type 17
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. https://pubmed.ncbi.nlm.nih.gov/25175347/
Xrefs	MIM:619061 UMLS_CUI:C5436718
SKOS	exactMatch UMLS_CUI:C5436718 exactMatch MIM:619061
Synonyms	MC4DN17 [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