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Ontology Browser

Term:
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 
autosomal recessive distal hereditary motor neuronopathy 7  
Bassoe Syndrome 
Becker muscular dystrophy  
congenital muscular dystrophy +   
distal myopathy +   
Duchenne muscular dystrophy +   
Emery-Dreifuss muscular dystrophy +   
facioscapulohumeral muscular dystrophy +   
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
glycogen storage disease VII  
limb-girdle muscular dystrophy +   
Muscular Dystrophy, Animal +   
Muscular Dystrophy, Barnes Type 
Muscular Dystrophy, Cardiac Type 
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME  
Muscular Dystrophy, Mabry Type 
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 
Myofibrillar Myopathy, ZASP-Related  
Myopathy with Abnormal Lipid Metabolism  
myotonic disease +   
oculopharyngeal muscular dystrophy +   
Oculopharyngeal Muscular Dystrophy 2  
oculopharyngodistal myopathy +   
Progressive Muscular Dystrophy, Pectorodorsal 
Scapulohumeroperoneal Myopathy  
Vacuolar Neuromyopathy  

Synonyms
Exact Synonyms: FMD ;   FSH Muscular Dystrophy ;   FSHD ;   Facio-Scapulo-Humeral Dystrophy ;   Facioscapulohumeral Type Progressive Muscular Dystrophy ;   Facioscapuloperoneal Muscular Dystrophy ;   Landouzy Dejerine dystrophy ;   Landouzy-Dejerine dystrophies ;   Landouzy-Dejerine muscular dystrophy ;   facioscapulohumeral atrophies
Primary IDs: MESH:D020391
Xrefs: EFO:0000491 ;   GARD:9941 ;   ICD10CM:G71.02 ;   MIM:PS158900 ;   MONDO:0001347 ;   NCI:C84704
Definition Sources: MESH:D020391

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