combined oxidative phosphorylation deficiency 15
Information
- Disease name
- combined oxidative phosphorylation deficiency 15
- Disease ID
- DOID:0111491
- Description
- "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21907147]
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:614947
- Cross Reference ID (Disease Ontology)
- ORDO:319524
- Exact Synonym (Disease Ontology)
- COXPD15