Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 29
- Term ID
- DOID:0111501
- Synonyms
-
- COXPD29
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. https://www.ncbi.nlm.nih.gov/pubmed/26626369
- References
- Ontology
- Human Disease ( DOID:0111501 )
- is a type of
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