Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
heart
eyes endocrine system muscles |
| gptkbp:alsoKnownAs |
gptkb:myotonic_dystrophy
|
| gptkbp:causedBy |
CTG trinucleotide repeat expansion
|
| gptkbp:diagnosedBy |
genetic testing
electromyography |
| gptkbp:firstDescribed |
1909
|
| gptkbp:gene |
gptkb:CNBP
gptkb:DMPK |
| https://www.w3.org/2000/01/rdf-schema#label |
dystrophia myotonica
|
| gptkbp:ICD-10_code |
G71.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D009223
|
| gptkbp:namedAfter |
gptkb:Hans_Gustav_Wilhelm_Steinert
|
| gptkbp:OMIM |
160900
|
| gptkbp:prevalence |
1 in 8,000 worldwide
|
| gptkbp:subspecies |
gptkb:myotonic_dystrophy_type_1
gptkb:myotonic_dystrophy_type_2 |
| gptkbp:symptom |
gptkb:cataracts
gptkb:myotonia muscle weakness cardiac conduction defects |
| gptkbp:treatment |
physical therapy
cataract surgery symptomatic management cardiac monitoring |
| gptkbp:UMLS_CUI |
C0026827
|
| gptkbp:bfsParent |
gptkb:myotonic_dystrophy
|
| gptkbp:bfsLayer |
7
|