combined oxidative phosphorylation deficiency
Information
- Disease name
- combined oxidative phosphorylation deficiency
- Disease ID
- DOID:0060286
- Description
- "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction." [url:https\://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| GFM1 | 3 | 158,644,597 | 158,692,569 | 40 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:700
- Cross Reference ID (Disease Ontology)
- GARD:12893
- Cross Reference ID (Disease Ontology)
- MIM:PS609060
- OMIM Phenotype Series Number (OMIM)
- PS609060