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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-6719
http://purl.bioontology.org/ontology/CSP/1849-6719
|
|---|---|
| Preferred Name | myotonic dystrophy |
| Definitions |
autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy; cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur; congenital myotonic dystrophy is a severe form of this disorder.
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| Synonyms |
Steinert's disease
myotonia atrophica
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy; cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur; congenital myotonic dystrophy is a severe form of this disorder. |
|---|---|
| altLabel |
Steinert's disease
myotonia atrophica
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| prefLabel | myotonic dystrophy
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-6719
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| Semantic type UMLS property | |
| DID | 1849-6719
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| cui | C0027126
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| Inverse of RB | |
| subClassOf |
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| No notes to display |