Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 26
- Term ID
- DOID:0111490
- Synonyms
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- COXPD26
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. https://www.ncbi.nlm.nih.gov/pubmed/26189817
- References
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- MIM:616539
- ORDO:477684
- Ontology
- Human Disease ( DOID:0111490 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models