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- Be8320e6a6dcbe0297e0a922496e0d4dc NCIT_P378 "ACC/AHA" @default.
- Be8320e6a6dcbe0297e0a922496e0d4dc type Axiom @default.
- Be8320e6a6dcbe0297e0a922496e0d4dc annotatedProperty NCIT_P325 @default.
- Be8320e6a6dcbe0297e0a922496e0d4dc annotatedSource NCIT_C34854 @default.
- Be8320e6a6dcbe0297e0a922496e0d4dc annotatedTarget "A genetic syndrome caused by mutations in the PTPN11 gene (greater than 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function." @default.