Search Ontology:
Human Disease
nuclear type mitochondrial complex I deficiency 17
- Term ID
- DOID:0112078
- Synonyms
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- 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 )
- is a type of
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