Ontology Browser

Term:
autosomal recessive limb-girdle muscular dystrophy type 2B (DOID:0110276)
Annotations: Rat: (10) Mouse: (10) Human: (10) Chinchilla: (9) Bonobo: (10) Dog: (10) Squirrel: (10)
Parent Terms Term With Siblings Child Terms
autosomal recessive limb-girdle muscular dystrophy 23  
autosomal recessive limb-girdle muscular dystrophy type 2A  
autosomal recessive limb-girdle muscular dystrophy type 2B  
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)
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  
myofibrillar myopathy 1  

Synonyms
Exact Synonyms: LGMD2B ;   LGMD3 ;   LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B ;   Muscular dystrophy, limb-girdle, type 3 ;   limb-girdle muscular dystrophy due to dysferlin deficiency
Primary IDs: MESH:C535899
Alternate IDs: OMIM:253601 ;   RDO:0001264
Xrefs: ORDO:268
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/9731527

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