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Ontology Browser
Term:
autosomal recessive limb-girdle muscular dystrophy type 2E (DOID:0110279)
Annotations: Rat: (1) Mouse: (1) Human: (3) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23  
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26  
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27  
autosomal recessive limb-girdle muscular dystrophy type 2A  
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  
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. (DO)
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  
autosomal recessive limb-girdle muscular dystrophy type 2Z  
Congenital Disorder of Glycosylation Type 1O  
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28  
muscular dystrophy-dystroglycanopathy type B14  
muscular dystrophy-dystroglycanopathy type C12  
muscular dystrophy-dystroglycanopathy type C8  
myofibrillar myopathy 1  

Synonyms
Exact Synonyms: LGMD2E ;   LGMDR4 ;   autosomal recessive limb-girdle muscular dystrophy 4 ;   beta-sarcoglycan limb-girdle muscular dystrophy ;   beta-sarcoglycanopathy ;   limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency ;   limb-girdle muscular dystrophy with beta-sarcoglycan deficiency ;   muscular dystrophy, limb-girdle, type 2E
Primary IDs: MESH:C535902
Alternate IDs: MESH:C535435 ;   OMIM:604286
Xrefs: NCI:C180849 ;   ORDO:119
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/7581448 "DO" "DO"

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