Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 20
- Term ID
- DOID:0111478
- Synonyms
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- COXPD20
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. https://www.ncbi.nlm.nih.gov/pubmed/25058219
- References
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- MIM:615917
- ORDO:420728
- Ontology
- Human Disease ( DOID:0111478 )
- is a type of
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Genes Involved
Zebrafish Models