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- B6cfc56238fba52cbea887ec73ce268cb NCIT_P378 "NCI" @default.
- B6cfc56238fba52cbea887ec73ce268cb type Axiom @default.
- B6cfc56238fba52cbea887ec73ce268cb annotatedProperty IAO_0000115 @default.
- B6cfc56238fba52cbea887ec73ce268cb annotatedSource NCIT_C177544 @default.
- B6cfc56238fba52cbea887ec73ce268cb annotatedTarget "An X-linked genetic condition caused by duplication of a small segment of Xq25, which may encompass the GRIA3 and STAG2 genes, encoding glutamate receptor 3 and cohesin subunit SA-2. It is characterized by intellectual disability and distinctive facial dysmorphisms." @default.