Disease association ontology term - MONDO:0016368 - Rothmund-Thomson syndrome type 1
Term summary
- ID
- MONDO:0016368
- Name
- Rothmund-Thomson syndrome type 1
- Ontology or CV name
- Disease association
- Definition
- Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.
