Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 25
- Term ID
- DOID:0111468
- Synonyms
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- COXPD25
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. https://www.ncbi.nlm.nih.gov/pubmed/25754315
- References
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- MIM:616430
- ORDO:447954
- Ontology
- Human Disease ( DOID:0111468 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models