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Term:
autosomal recessive limb-girdle muscular dystrophy type 2A (DOID:0110275)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23  
autosomal recessive limb-girdle muscular dystrophy type 2A  
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. (DO)
autosomal recessive limb-girdle muscular dystrophy type 2B  
autosomal recessive limb-girdle muscular dystrophy type 2C  
autosomal recessive limb-girdle muscular dystrophy type 2D  
autosomal recessive limb-girdle muscular dystrophy type 2E  
autosomal recessive limb-girdle muscular dystrophy type 2F  
autosomal recessive limb-girdle muscular dystrophy type 2G  
autosomal recessive limb-girdle muscular dystrophy type 2H  
autosomal recessive limb-girdle muscular dystrophy type 2I  
autosomal recessive limb-girdle muscular dystrophy type 2J  
autosomal recessive limb-girdle muscular dystrophy type 2K  
autosomal recessive limb-girdle muscular dystrophy type 2L  
autosomal recessive limb-girdle muscular dystrophy type 2M  
autosomal recessive limb-girdle muscular dystrophy type 2N  
autosomal recessive limb-girdle muscular dystrophy type 2O  
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive limb-girdle muscular dystrophy type 2Q  
autosomal recessive limb-girdle muscular dystrophy type 2S  
autosomal recessive limb-girdle muscular dystrophy type 2T  
autosomal recessive limb-girdle muscular dystrophy type 2U  
autosomal recessive limb-girdle muscular dystrophy type 2W  
autosomal recessive limb-girdle muscular dystrophy type 2X  
autosomal recessive limb-girdle muscular dystrophy type 2Y  
Congenital Disorder of Glycosylation Type 1O  
myofibrillar myopathy 1  

Synonyms
Exact Synonyms: Calpainopathy ;   LGMD2 ;   LGMD2A ;   LGMDR1 ;   Leyden-Moebius muscular dystrophy ;   Limb-girdle muscular dystrophy type 2 ;   Muscular dystrophy, pelvofemoral ;   autosomal recessive limb-girdle muscular dystrophy, 1 ;   eosinophilic myositis ;   limb-girdle muscular dystrophy due to calpain deficiency ;   muscular dystrophy, limb-girdle, type 2A ;   primary calpainopathy
Narrow Synonyms: CALPAINOPATHY MYOSITIS, EOSINOPHILIC
Broad Synonyms: CAPN3-RELATED DISORDER
Primary IDs: MESH:C535895
Alternate IDs: OMIM:253600 ;   RDO:0001259
Xrefs: GARD:3845 ;   ORDO:267
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/7720071

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.