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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | Thomsen and Becker disease | |
| Synonyms |
Batten-Turner congenital myopathy myopathy, congenital myotonia congenita |
|
| Definitions |
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009710 |
|
| altLabel |
Batten-Turner congenital myopathy myopathy, congenital myotonia congenita
|
|
| definition |
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
|
|
| has_exact_synonym |
myotonia congenita
|
|
| has_related_synonym |
Batten-Turner congenital myopathy myopathy, congenital
|
|
| label |
Thomsen and Becker disease
|
|
| prefixIRI |
MONDO:0009710
|
|
| prefLabel |
Thomsen and Becker disease
|
|
| textual definition |
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016121 http://purl.obolibrary.org/obo/MONDO_0019119 |
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