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Human Disease

nuclear type mitochondrial complex I deficiency 18

Term ID
DOID:0112070
Synonyms
  • MC1DN18
Definition
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. https://pubmed.ncbi.nlm.nih.gov/19463981/
References
Ontology
Human Disease   ( DOID:0112070 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models