autosomal recessive limb-girdle muscular dystrophy type 2Q
Information
- Disease name
- autosomal recessive limb-girdle muscular dystrophy type 2Q
- Disease ID
- DOID:0110285
- Description
- "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21109228]
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:613723
- Cross Reference ID (Disease Ontology)
- ORDO:254361
- Exact Synonym (Disease Ontology)
- autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
- Exact Synonym (Disease Ontology)
- LGMD2Q
- Exact Synonym (Disease Ontology)
- muscular dystrophy, limb-girdle, type 2Q
- OrphaNumber from OrphaNet (Orphanet)
- 254361