Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 15
- Term ID
- DOID:0111491
- Synonyms
-
- COXPD15
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. https://www.ncbi.nlm.nih.gov/pubmed/21907147
- References
-
- MIM:614947
- ORDO:319524
- Ontology
- Human Disease ( DOID:0111491 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models