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- B54dca8352e6a85c49949680cf9b55b2e NCIT_P378 "NCI" @default.
- B54dca8352e6a85c49949680cf9b55b2e type Axiom @default.
- B54dca8352e6a85c49949680cf9b55b2e annotatedProperty IAO_0000115 @default.
- B54dca8352e6a85c49949680cf9b55b2e annotatedSource NCIT_C4461 @default.
- B54dca8352e6a85c49949680cf9b55b2e annotatedTarget "A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae." @default.