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Human Disease

nuclear type mitochondrial complex I deficiency 16

Term ID
DOID:0112096
Synonyms
  • MC1DN16
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/
References
Ontology
Human Disease   ( DOID:0112096 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models