Preferred Label : Rothmund-Thomson syndrome type 2;
ICD-11 definition : Rothmund-Thomson syndrome type 2 differs from Rothmund-Thomson syndrome type 1 in
that it is associated with mutations in the RECQL4 gene and an increased risk of osteosarcoma
and squamous cell carcinoma.;
Origin ID : 2111040755;
Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
Rothmund-Thomson syndrome type 2 differs from Rothmund-Thomson syndrome type 1 in
that it is associated with mutations in the RECQL4 gene and an increased risk of osteosarcoma
and squamous cell carcinoma.
