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- B09047488f689bc1b34718eaaabec5c7c NCIT_P378 "NCI" @default.
- B09047488f689bc1b34718eaaabec5c7c type Axiom @default.
- B09047488f689bc1b34718eaaabec5c7c annotatedProperty IAO_0000115 @default.
- B09047488f689bc1b34718eaaabec5c7c annotatedSource NCIT_C4461 @default.
- B09047488f689bc1b34718eaaabec5c7c 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.