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Human Disease

nuclear type mitochondrial complex I deficiency 17

Term ID
DOID:0112078
Synonyms
  • MC1DN17
Definition
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. https://pubmed.ncbi.nlm.nih.gov/18614015/
References
Ontology
Human Disease   ( DOID:0112078 )
Relationships
is a type of
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Genes Involved
Zebrafish Models