distal myopathy
Information
- Disease name
- distal myopathy
- Disease ID
- DOID:11720
- Description
- "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." [url:https\://rarediseases.org/rare-diseases/distal-myopathy/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| DNAJB4 | 1 | 78,004,939 | 78,017,964 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:9884
- Cross Reference ID (Disease Ontology)
- ICD10CM:G71.09
- Cross Reference ID (Disease Ontology)
- MESH:D049310
- Cross Reference ID (Disease Ontology)
- MIM:PS160500
- Cross Reference ID (Disease Ontology)
- NCI:C84675
- Cross Reference ID (Disease Ontology)
- ORDO:399096
- Cross Reference ID (Disease Ontology)
- ORDO:5448
- Cross Reference ID (Disease Ontology)
- ORDO:59135
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:58795000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0751336
- Exact Synonym (Disease Ontology)
- distal muscular dystrophy
- OrphaNumber from OrphaNet (Orphanet)
- 599
- MedGen concept unique identifier (MedGen Concept name)
- C0751336
- MedGen unique identifier (MedGen Concept name)
- 155541