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- B1fbfe1613a2ae4fe86ae540049487467 NCIT_P378 "NCI" @default.
- B1fbfe1613a2ae4fe86ae540049487467 type Axiom @default.
- B1fbfe1613a2ae4fe86ae540049487467 annotatedProperty IAO_0000115 @default.
- B1fbfe1613a2ae4fe86ae540049487467 annotatedSource NCIT_C3938 @default.
- B1fbfe1613a2ae4fe86ae540049487467 annotatedTarget "An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis." @default.