autosomal recessive limb-girdle muscular dystrophy type 2L
Information
- Disease name
- autosomal recessive limb-girdle muscular dystrophy type 2L
- Disease ID
- DOID:0110284
- Description
- "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20096397]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0110274
- Cross Reference ID (Disease Ontology)
- ICD10CM:G71.0
- Cross Reference ID (Disease Ontology)
- MIM:611307
- Cross Reference ID (Disease Ontology)
- ORDO:206549
- Exact Synonym (Disease Ontology)
- LGMD2L
- Exact Synonym (Disease Ontology)
- muscular dystrophy, limb-girdle, type 2L
- OrphaNumber from OrphaNet (Orphanet)
- 206549