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Ontology Browser

Term:
hyaline body myopathy (DOID:0111267)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (0) Bonobo: (2) Dog: (2) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Compton-North congenital myopathy  
congenital fiber-type disproportion +   
Congenital Myopathy with Excess of Muscle Spindles  
Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy  
cylindrical spirals myopathy 
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
hyaline body myopathy +   
A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. (DO)
MYOPATHY, CONGENITAL, WITH TREMOR  
myotonia congenita +   
Progressive Congenital Myopathy with Scoliosis  
tubular aggregate myopathy  

Synonyms
Exact Synonyms: myosin storage myopathy
Xrefs: GARD:7148 ;   ORDO:53698
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22918376

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