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- Ba684d0e65248f2ef75917f6e75c0a2ec NCIT_P378 "NCI" @default.
- Ba684d0e65248f2ef75917f6e75c0a2ec type Axiom @default.
- Ba684d0e65248f2ef75917f6e75c0a2ec annotatedProperty IAO_0000115 @default.
- Ba684d0e65248f2ef75917f6e75c0a2ec annotatedSource NCIT_C93268 @default.
- Ba684d0e65248f2ef75917f6e75c0a2ec annotatedTarget "An autosomal dominant-inherited neoplastic predisposition syndrome caused by mutation(s) in the SMARCB1 or SMARCA4 genes. It is characterized by the development of atypical teratoid/rhabdoid tumors in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." @default.