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Ontology Browser

Term:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (DOID:9008558)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Alcohol Myopathy  
centronuclear myopathy +   
congenital myopathy +   
congenital structural myopathy +   
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
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 DUE TO MYOADENYLATE DEAMINASE DEFICIENCY  
An autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia.
myopathy of extraocular muscle +   
myopathy with extrapyramidal signs  
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
myositis +   
Myostitis 
neurogenic scapuloperoneal syndrome Kaeser type  
Neutral Lipid Storage Disease with Myopathy  
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
polymyalgia rheumatica  
Reducing Body Myopathies +   
Secretory Diarrhea, Myopathy, and Deafness 
Tubular Aggregate Myopathies +   
X-linked myopathy with excessive autophagy  

Synonyms
Exact Synonyms: MMDD ;   MUSCLE AMP DEAMINASE DEFICIENCY ;   MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO ;   MYOPATHY DUE TO AMPD1 DEFICIENCY
Primary IDs: OMIM:615511
Xrefs: NCI:C157504
Definition Sources: OMIM:615511

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