WormBase Tree Display for DO_term: DOID:0110275
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| DOID:0110275 | Name | autosomal recessive limb-girdle muscular dystrophy type 2A | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. | ||||
| Synonym | Exact | LGMD2A | |||
| Leyden-Moebius muscular dystrophy | |||||
| limb-girdle muscular dystrophy due to calpain deficiency | |||||
| muscular dystrophy, limb-girdle, type 2A | |||||
| pelvofemoral muscular dystrophy | |||||
| primary calpainopathy | |||||
| Parent | Is_a | DOID:0110274 | |||
| DB_info | Database | OMIM | disease | 253600 | |
| Attribute_of | Gene_by_orthology | WBGene00000542 | |||
| WBGene00000544 | |||||
| WBGene00000545 | |||||
| WBGene00000546 | |||||
| WBGene00000547 |
