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Ontology Browser

Term:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 (DOID:9001671)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal dominant limb-girdle muscular dystrophy +   
autosomal recessive limb-girdle muscular dystrophy +   
Beta-sarcoglycanopathy  
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Muscular Dystrophy, Davignon-Chauveau Type  
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma  
Dysferlinopathy  
epidermolysis bullosa simplex with muscular dystrophy  
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +   
Muscular Dystrophy, Hemizygous Lethal Type 
Muscular Dystrophy, Limb-Girdle, Type 2Z  
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14  
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12  
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8  
An autosomal recessive muscular dystrophy with onset in childhood. Common features include calf hypertrophy, increased serum creatine kinase, and muscle biopsy often shows dystrophic features.

Synonyms
Exact Synonyms: LGMDR24 ;   MDDGC8 ;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 24 ;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED ;   limb-girdle muscular dystrophy-dystroglycanopathy (type C8)
Primary IDs: OMIM:618135
Definition Sources: OMIM:618135

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