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Metadata
ID	DOID:0070497
PURL	http://purl.obolibrary.org/obo/DOID_0070497 Copy Copied!
Name	mitochondrial complex IV deficiency nuclear type 11
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. https://pubmed.ncbi.nlm.nih.gov/24202787/, https://pubmed.ncbi.nlm.nih.gov/33751098/
Xrefs	MIM:619054 UMLS_CUI:C5436694
SKOS	exactMatch MIM:619054 exactMatch UMLS_CUI:C5436694
Synonyms	MC4DN11 [EXACT]
Parent Relationships	is_a COX deficiency, benign infantile mitochondrial myopathy is_a autosomal recessive disease