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Metadata
ID	DOID:0112096
Name	nuclear type mitochondrial complex I deficiency 16
Definition	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. https://pubmed.ncbi.nlm.nih.gov/18940309/
Xrefs	MIM:618238
Synonyms	MC1DN16 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a nuclear type mitochondrial complex I deficiency
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance