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- B3d6f5ba45d1967236f7f3012a329626a NCIT_P378 "NCI" @default.
- B3d6f5ba45d1967236f7f3012a329626a type Axiom @default.
- B3d6f5ba45d1967236f7f3012a329626a annotatedProperty IAO_0000115 @default.
- B3d6f5ba45d1967236f7f3012a329626a annotatedSource NCIT_C75466 @default.
- B3d6f5ba45d1967236f7f3012a329626a annotatedTarget "A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders." @default.