Visualize Submit Comment

Metadata
ID	DOID:0112068
Name	nuclear type mitochondrial complex I deficiency 5
Definition	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. https://pubmed.ncbi.nlm.nih.gov/11349233/
Xrefs	MIM:618226
Synonyms	MC1DN5 [EXACT]
Parent Relationships	is_a nuclear type mitochondrial complex I deficiency is_a autosomal recessive disease