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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Compton-North congenital myopathy  
congenital myopathy 10B  
Congenital Myopathy 11  
congenital myopathy 14  
congenital myopathy 15  
congenital myopathy 16  
congenital myopathy 17  
congenital myopathy 18  
congenital myopathy 19  
congenital myopathy 1A +   
congenital myopathy 1B  
congenital myopathy 20  
congenital myopathy 21  
congenital myopathy 22A  
congenital myopathy 22B  
Congenital myopathy 25  
congenital myopathy 2B  
congenital myopathy 2C  
congenital myopathy 4A +   
congenital myopathy 5  
congenital myopathy 6  
congenital myopathy 8  
congenital myopathy 9A  
congenital myopathy 9B  
Congenital Myopathy with Excess of Muscle Spindles  
congenital structural myopathy +   
cylindrical spirals myopathy 
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
hyaline body myopathy +   
myotonia congenita +   
Native American myopathy  
nemaline myopathy +   
A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. (DO)

Synonyms
Exact Synonyms: Childhood Onset Nemaline Myopathy ;   Late Onset Nemaline Myopathy ;   Nemaline Body Disease ;   Nemaline Rod Disease ;   Rod Body Disease ;   Rod Body Myopathy ;   Rod Myopathies ;   Rod-Body Myopathies ;   adult onset nemaline myopathy ;   nemaline myopathies
Narrow Synonyms: nemaline myopathy, autosomal dominant ;   nemaline myopathy, autosomal recessive ;   nemaline myopathy, dominant ;   nemaline myopathy, recessive
Primary IDs: MESH:D017696
Xrefs: EFO:0020036 ;   GARD:12033 ;   ICD10CM:G71.21 ;   MIM:PS161800 ;   ORDO:607
Definition Sources: http://en.wikipedia.org/wiki/Nemaline_myopathy "DO" "DO", http://ghr.nlm.nih.gov/condition/nemaline-myopathy "DO" "DO", https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract "DO" "DO"

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