Visualize Submit Comment

Metadata
ID	DOID:0112092
Name	nuclear type mitochondrial complex I deficiency 7
Definition	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. https://pubmed.ncbi.nlm.nih.gov/12754703/
Xrefs	MIM:618229
Synonyms	MC1DN7 [EXACT]
Parent Relationships	is_a nuclear type mitochondrial complex I deficiency is_a autosomal recessive disease