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- Bf39d63d9f62639c49fabe9b7377e7d0c NCIT_P378 "NCI" @default.
- Bf39d63d9f62639c49fabe9b7377e7d0c type Axiom @default.
- Bf39d63d9f62639c49fabe9b7377e7d0c annotatedProperty IAO_0000115 @default.
- Bf39d63d9f62639c49fabe9b7377e7d0c annotatedSource NCIT_C2892 @default.
- Bf39d63d9f62639c49fabe9b7377e7d0c 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.