Search Ontology:
Human Disease
nuclear type mitochondrial complex I deficiency 23
- Term ID
- DOID:0112087
- Synonyms
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- MC1DN23
- Definition
- A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. https://pubmed.ncbi.nlm.nih.gov/21617257/
- References
- Ontology
- Human Disease ( DOID:0112087 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| NDUFA12 | Mitochondrial complex I deficiency, nuclear type 23 | nuclear type mitochondrial complex I deficiency 23 | 618244 |
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Zebrafish Models