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congenital structural myopathy (DOID:422)
Annotations: Rat: (134) Mouse: (134) Human: (139) Chinchilla: (130) Bonobo: (131) Dog: (134) Squirrel: (132)
Parent Terms Term With Siblings Child Terms
myopathy +     
Alcohol Myopathy  
bone development disease +   
centronuclear myopathy +   
congenital heart disease +   
congenital myopathy +   
congenital structural myopathy +   
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities +   
Fetal Akinesia Deformation Sequence +   
Language Development Disorders +   
mitochondrial myopathy +   
Multiple Epiphyseal Dysplasia with Myopathy 
muscular atrophy +   
muscular dystrophy +   
myofascial pain syndrome +   
myofibrillar myopathy +   
myoglobinuria +   
Myopathy due to Malate-Aspartate Shuttle Defect 
myopathy of extraocular muscle +   
Myopathy with Extrapyramidal Signs  
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
myopathy, lactic acidosis, and sideroblastic anemia +   
myositis +   
Neurodevelopmental Disorders +   
polymyalgia rheumatica  
reducing body myopathy +   
Secretory Diarrhea, Myopathy, and Deafness 
spheroid body myopathy  
X-linked myopathy with excessive autophagy  

Exact Synonyms: Fiber Type Disproportion Myopathy, Congenital ;   MTM1 ;   Myopathy, Centronuclear, Autosomal Dominant ;   Myotubular Myopathies ;   congenital non progressive myopathies ;   congenital non-progressive myopathy ;   congenital structural myopathies ;   myotubular myopathy ;   myotubular myopathy 1
Primary IDs: MESH:D020914
Alternate IDs: OMIA:001374 ;   RDO:0002591
Definition Sources: MESH:D020914

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