Search Ontology:
Human Disease
nuclear type mitochondrial complex I deficiency 7
- Term ID
- DOID:0112092
- Synonyms
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- MC1DN7
- Definition
- A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. https://pubmed.ncbi.nlm.nih.gov/12754703/
- References
- Ontology
- Human Disease ( DOID:0112092 )
- is a type of
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