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- NCIT_C93268 IAO_0000115 "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.
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- NCIT_C93268 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C93268 NCIT_P108 "Rhabdoid Tumor Predisposition Syndrome" @default.
- NCIT_C93268 NCIT_P208 "CL425150" @default.
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- NCIT_C93268 normalizedInformationContent "87.123597049860606" @default.
- NCIT_C93268 referenceCount "7" @default.
- NCIT_C93268 hasExactSynonym "Familial Posterior Fossa Brain Tumor Syndrome of Infancy" @default.
- NCIT_C93268 hasExactSynonym "Rhabdoid Predisposition Syndrome" @default.
- NCIT_C93268 hasExactSynonym "Rhabdoid Tumor Predisposition Syndrome" @default.
- NCIT_C93268 type Class @default.
- NCIT_C93268 isDefinedBy ncit.owl @default.
- NCIT_C93268 label "Rhabdoid Tumor Predisposition Syndrome" @default.
- NCIT_C93268 subClassOf NCIT_C28193 @default.
- NCIT_C93268 subClassOf NCIT_C2991 @default.
- NCIT_C93268 subClassOf NCIT_C3101 @default.
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