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Ontology Browser

Term:
limb-girdle muscular dystrophy (DOID:11724)
Annotations: Rat: (121) Mouse: (121) Human: (125) Chinchilla: (117) Bonobo: (116) Dog: (118) Squirrel: (119) Pig: (118)
Parent Terms Term With Siblings Child Terms
muscular dystrophy +     
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alpha-B Crystallinopathy with Cataract 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Bassoe Syndrome 
Becker muscular dystrophy +   
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy +   
distal myopathy +   
Duchenne muscular dystrophy +   
Emery-Dreifuss muscular dystrophy +   
facioscapulohumeral muscular dystrophy +   
glycogen storage disease VII  
limb-girdle muscular dystrophy +   
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).
Muscular Dystrophy, Animal +   
Muscular Dystrophy, Barnes Type 
Muscular Dystrophy, Cardiac Type 
Muscular Dystrophy, Mabry Type 
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 
Myofibrillar Myopathy, ZASP-Related  
Myopathy with Abnormal Lipid Metabolism  
MYOPATHY, SCAPULOHUMEROPERONEAL  
myotonic disease +   
oculopharyngeal muscular dystrophy +   
Oculopharyngodistal Myopathy  
Progressive Muscular Dystrophy, Pectorodorsal 
rigid spine muscular dystrophy 1  
scapuloperoneal myopathy +   
Vacuolar Neuromyopathy 

Synonyms
Exact Synonyms: Erb's muscular dystrophy ;   Leyden-Mbius muscular dystrophy ;   Limb Girdle Muscular Dystrophies ;   Limb-Girdle Syndrome ;   Myopathic Limb-Girdle Syndrome
Narrow Synonyms: LIMB-GIRDLE MUSCULAR DYSTROPHY, DOMINANT ;   LIMB-GIRDLE MUSCULAR DYSTROPHY, RECESSIVE
Primary IDs: MESH:D049288
Alternate IDs: RDO:0000544
Xrefs: GARD:6907 ;   NCI:C84828 ;   OMIM:PS609308 ;   ORDO:263
Definition Sources: MESH:D049288, http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy, http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, http://www.ncbi.nlm.nih.gov/books/NBK1408/

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