Visualize Submit Comment
Metadata
ID DOID:0112073
Name nuclear type mitochondrial complex I deficiency 9
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33.
https://pubmed.ncbi.nlm.nih.gov/15372108/
Xrefs

MIM:618232

Synonyms

MC1DN9 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker