Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 30
- Term ID
- DOID:0111471
- Synonyms
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- COXPD30
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. https://www.ncbi.nlm.nih.gov/pubmed/27132592
- References
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- MIM:616974
- ORDO:478042
- Ontology
- Human Disease ( DOID:0111471 )
- is a type of
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Genes Involved
Zebrafish Models