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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Actin-Accumulation Myopathy  
autosomal recessive centronuclear myopathy +   
Cap Myopathy +  
central core myopathy +   
centronuclear myopathy 1  
centronuclear myopathy 2  
centronuclear myopathy 4  
centronuclear myopathy X-linked  
congenital fiber-type disproportion +   
distal muscular dystrophy Tateyama type  
Minicore Myopathy with External Ophthalmoplegia  
myofibrillar myopathy +   
Myosclerosis, Autosomal Recessive  
Myotubular Myopathy with Abnormal Genital Development 
nemaline myopathy +   
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Pleoconial Myopathy with Salt Craving 

Synonyms
Exact Synonyms: Autosomal Dominant Nemaline Myopathy ;   Autosomal Recessive Nemaline Myopathy ;   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 ;   nemaline rod myopathy ;   rod myopathy
Narrow Synonyms: NEMALINE MYOPATHY, DOMINANT ;   NEMALINE MYOPATHY, RECESSIVE
Primary IDs: MESH:D017696
Alternate IDs: RDO:0004316
Xrefs: GARD:12033 ;   OMIM:PS161800 ;   ORDO:607
Definition Sources: http://en.wikipedia.org/wiki/Nemaline_myopathy "DO", http://ghr.nlm.nih.gov/condition/nemaline-myopathy "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract "DO", MESH:D017696

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