Disease association ontology term - MONDO:0016369 - Rothmund-Thomson syndrome type 2
Term summary
- ID
- MONDO:0016369
- Name
- Rothmund-Thomson syndrome type 2
- Ontology or CV name
- Disease association
- Definition
- Rothmund-Thomson syndrome type 2 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, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
