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Metadata
ID	DOID:0070505
Name	mitochondrial complex IV deficiency nuclear type 20
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. https://pubmed.ncbi.nlm.nih.gov/28247525/
Xrefs	MIM:619064 UMLS_CUI:C5436726
Synonyms	MC4DN20 [EXACT]
Parent Relationships	is_a COX deficiency, benign infantile mitochondrial myopathy is_a autosomal recessive disease