FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nuclear type mitochondrial complex I deficiency 16 ID (Ontology) DOID:0112096 (Human Disease)
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.
Also Known As "MC1DN16"
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 Genes
 nuclear type mitochondrial complex I deficiency 16       1
 for disease ribbon | nuclear type mitochondrial complex I deficiency 16       1
 model of | nuclear type mitochondrial complex I deficiency 16       1
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autosomal genetic disease
 |__autosomal recessive disease______________________
mitochondrial complex I deficiency                   |
 |__nuclear type mitochondrial complex I deficiency__|
                                                     nuclear type mitochondrial complex I deficiency 16  1 rec.
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Is a autosomal recessive disease
nuclear type mitochondrial complex I deficiency
Part of
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Synonyms
  • "MC1DN16" EXACT OMO:0003012
Secondary IDs
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MIM:618238