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- B440b29e781cf4664b9cb7c985d4bec35 NCIT_P378 "NCI" @default.
- B440b29e781cf4664b9cb7c985d4bec35 type Axiom @default.
- B440b29e781cf4664b9cb7c985d4bec35 annotatedProperty IAO_0000115 @default.
- B440b29e781cf4664b9cb7c985d4bec35 annotatedSource NCIT_C2892 @default.
- B440b29e781cf4664b9cb7c985d4bec35 annotatedTarget "An autosomal dominant genetic syndrome caused by abnormalities in the PTCH and SUFU gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas." @default.