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Metadata
ID	DOID:0070493
PURL	http://purl.obolibrary.org/obo/DOID_0070493 Copy Copied!
Name	mitochondrial complex IV deficiency nuclear type 4
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. https://pubmed.ncbi.nlm.nih.gov/11013136/, https://pubmed.ncbi.nlm.nih.gov/19295170/
Xrefs	MIM:619048 UMLS_CUI:C5436683
SKOS	exactMatch MIM:619048 exactMatch UMLS_CUI:C5436683
Synonyms	MC4DN4 [EXACT]
Parent Relationships	is_a COX deficiency, benign infantile mitochondrial myopathy is_a autosomal recessive disease