Ontology Browser

Term:
autosomal recessive limb-girdle muscular dystrophy type 2C (DOID:0110277)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
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  
autosomal recessive limb-girdle muscular dystrophy type 2C  
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. (DO)
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: Adhalin deficiency, secondary ;   DMDA ;   DMDA1 ;   Duchenne-like muscular dystrophy, autosomal recessive, type 1 ;   LGMD2C ;   Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency ;   Maghrebian myopathy ;   Muscular dystrophy, Duchenne-like ;   SARCOGLYCAN, GAMMA, DEFICIENCY OF ;   SCARMD ;   SEVERE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY OF CHILDHOOD - NORTH AFRICAN TYPE ;   gamma-sarcoglycanopathy ;   limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency ;   muscular dystrophy, limb-girdle, type 2C ;   severe childhood autosomal recessive muscular dystrophy, North African type
Primary IDs: MESH:C535900
Alternate IDs: OMIM:253700 ;   RDO:0001265
Xrefs: ORDO:353
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/7481775

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