combined oxidative phosphorylation deficiency 40
Information
- Disease name
- combined oxidative phosphorylation deficiency 40
- Disease ID
- DOID:0112117
- Description
- "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21." [url:https\://pubmed.ncbi.nlm.nih.gov/26741492/]
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:618835
- Cross Reference ID (Disease Ontology)
- ORDO:570491
- Exact Synonym (Disease Ontology)
- COXPD40
- Exact Synonym (Disease Ontology)
- QRSL1-related COXPD