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Metadata
ID	DOID:0070491
Name	mitochondrial complex IV deficiency nuclear type 1
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. https://pubmed.ncbi.nlm.nih.gov/10746561/
Xrefs	MIM:220110 NCI:C176895 UMLS_CUI:C5435656
Subsets	NCIthesaurus
Synonyms	MC4DN1 [EXACT]
Parent Relationships	is_a COX deficiency, benign infantile mitochondrial myopathy is_a autosomal recessive disease