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- NCIT_C172639 IAO_0000115 "A syndrome caused by germline mutations in the BAP1 gene. It is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations have an increased risk of developing various tumor types, most commonly BAP1-inactivated nevi /melanocytomas of the skin, uveal and cutaneous melanomas, peritoneal and pleural mesotheliomas, clear cell renal cell carcinoma, and basal cell carcinoma. (WHO 2018)" @default.
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- NCIT_C172639 NCIT_P108 "BAP1 Tumor Predisposition Syndrome" @default.
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- NCIT_C172639 NCIT_P322 "CCPS" @default.
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- NCIT_C172639 NCIT_P375 "BAP1 Tumor Predisposition Syndrome" @default.
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- NCIT_C172639 hasExactSynonym "BAP1 Tumor Predisposition Syndrome" @default.
- NCIT_C172639 hasExactSynonym "BAP1-TPDS" @default.
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- NCIT_C172639 label "BAP1 Tumor Predisposition Syndrome" @default.
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