Preferred Label : Rothmund-Thomson syndrome type 1;
ICD-11 definition : Rothmund-Thomson syndrome type 1 differs from Rothmund-Thomson syndrome type 2 in
that it is not associated with mutations in the RECQL4 gene or with an increased risk
of osteosarcoma and squamous cell carcinoma.;
Origin ID : 717855330;
Currated CISMeF NLP mapping
Rothmund-Thomson syndrome type 1 differs from Rothmund-Thomson syndrome type 2 in
that it is not associated with mutations in the RECQL4 gene or with an increased risk
of osteosarcoma and squamous cell carcinoma.
