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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-6776
http://purl.bioontology.org/ontology/CSP/1849-6776
|
|---|---|
| Preferred Name | myotonia congenita |
| Definitions |
congenital genetic disease characterized by tonic spasm and rigidity of certain muscles when a voluntary movement is attempted; also known as Thomsen's disease.
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| Synonyms |
Thomsen's disease
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | congenital genetic disease characterized by tonic spasm and rigidity of certain muscles when a voluntary movement is attempted; also known as Thomsen's disease. |
|---|---|
| altLabel | Thomsen's disease
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| prefLabel | myotonia congenita
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| type | |
| tui | T047
|
| notation | 1849-6776
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| Semantic type UMLS property | |
| DID | 1849-6776
|
| cui | C2936781
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| Inverse of RB | |
| subClassOf |
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| No notes to display |