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Metadata
ID	DOID:0070494
Name	mitochondrial complex IV deficiency nuclear type 7
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. https://pubmed.ncbi.nlm.nih.gov/18499082/, https://pubmed.ncbi.nlm.nih.gov/24781756/
Xrefs	MIM:619051 UMLS_CUI:C5436685
Synonyms	MC4DN7 [EXACT]
Parent Relationships	is_a COX deficiency, benign infantile mitochondrial myopathy is_a autosomal recessive disease