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Metadata
ID	DOID:0070501
Name	mitochondrial complex IV deficiency nuclear type 16
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. https://pubmed.ncbi.nlm.nih.gov/31290619/
Xrefs	MIM:619060 UMLS_CUI:C5436714
SKOS	exactMatch MIM:619060 exactMatch UMLS_CUI:C5436714
Synonyms	MC4DN16 [EXACT]
Parent Relationships	is_a COX deficiency, benign infantile mitochondrial myopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance