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Metadata
ID	DOID:0070499
Name	mitochondrial complex IV deficiency nuclear type 14
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/25604084/
Xrefs	MIM:619058 UMLS_CUI:C5436710
SKOS	exactMatch MIM:619058 exactMatch UMLS_CUI:C5436710
Synonyms	MC4DN14 [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