Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 9
- Term ID
- DOID:0111472
- Synonyms
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- COXPD9
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. https://www.ncbi.nlm.nih.gov/pubmed/21786366
- References
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- MIM:614582
- ORDO:319509
- Ontology
- Human Disease ( DOID:0111472 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models