Visualize Submit Comment

Metadata
ID	DOID:0112093
Name	nuclear type mitochondrial complex I deficiency 3
Definition	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. https://pubmed.ncbi.nlm.nih.gov/17275378/, https://pubmed.ncbi.nlm.nih.gov/10330338/
Xrefs	MIM:618224
Synonyms	MC1DN3 [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