oculopharyngodistal myopathy
Information
- Disease name
- oculopharyngodistal myopathy
- Disease ID
- DOID:0081296
- Description
- "A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities." [url:https\://jnnp.bmj.com/content/75/10/1499]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:423
- Cross Reference ID (Disease Ontology)
- GARD:12592
- Cross Reference ID (Disease Ontology)
- MIM:PS164310
- Cross Reference ID (Disease Ontology)
- ORDO:98897
- OrphaNumber from OrphaNet (Orphanet)
- 98897
- MedGen concept unique identifier (MedGen Concept name)
- C1834014
- MedGen unique identifier (MedGen Concept name)
- 320250