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- B2668eb847a2f553b8a82a4f699a41485 hasDbXref "Orphanet:221008" @default.
- B2668eb847a2f553b8a82a4f699a41485 type Axiom @default.
- B2668eb847a2f553b8a82a4f699a41485 annotatedProperty IAO_0000115 @default.
- B2668eb847a2f553b8a82a4f699a41485 annotatedSource MONDO_0016368 @default.
- B2668eb847a2f553b8a82a4f699a41485 annotatedTarget "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." @default.