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- Bcc3b114cbe665cfc60486d012c8dd27e hasDbXref "NCIT:C93268" @default.
- Bcc3b114cbe665cfc60486d012c8dd27e type Axiom @default.
- Bcc3b114cbe665cfc60486d012c8dd27e annotatedProperty IAO_0000115 @default.
- Bcc3b114cbe665cfc60486d012c8dd27e annotatedSource MONDO_0016473 @default.
- Bcc3b114cbe665cfc60486d012c8dd27e annotatedTarget "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor 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.