Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:RTS
|
| gptkbp:category |
genodermatosis
DNA repair disorder |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:August_von_Rothmund
1868 |
| https://www.w3.org/2000/01/rdf-schema#label |
Rothmund-Thomson syndrome
|
| gptkbp:ICD-10_code |
Q82.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:RECQL4_gene
|
| gptkbp:OMIM |
268400
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
short stature
skeletal abnormalities sparse hair increased risk of osteosarcoma juvenile cataracts poikiloderma |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:RecQ_helicase
|
| gptkbp:bfsLayer |
6
|