Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 36
- Term ID
- DOID:0111482
- Synonyms
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- COXPD36
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. https://www.ncbi.nlm.nih.gov/pubmed/29576219
- References
- Ontology
- Human Disease ( DOID:0111482 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models