combined oxidative phosphorylation deficiency 29
Information
- Disease name
- combined oxidative phosphorylation deficiency 29
- Disease ID
- DOID:0111501
- Description
- "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26626369]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060286
- Cross Reference ID (Disease Ontology)
- MIM:616811
- Exact Synonym (Disease Ontology)
- COXPD29