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- Be1572ec97a909e6b646d32377eea27b7 NCIT_P378 "NCI" @default.
- Be1572ec97a909e6b646d32377eea27b7 type Axiom @default.
- Be1572ec97a909e6b646d32377eea27b7 annotatedProperty IAO_0000115 @default.
- Be1572ec97a909e6b646d32377eea27b7 annotatedSource NCIT_C118434 @default.
- Be1572ec97a909e6b646d32377eea27b7 annotatedTarget "A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism." @default.