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- B851072a50edb16e091099adf76af213b NCIT_P378 "NICHD" @default.
- B851072a50edb16e091099adf76af213b type Axiom @default.
- B851072a50edb16e091099adf76af213b annotatedProperty NCIT_P325 @default.
- B851072a50edb16e091099adf76af213b annotatedSource NCIT_C94830 @default.
- B851072a50edb16e091099adf76af213b annotatedTarget "Primary hyperparathyroidism of autosomal dominant or recessive inheritance, associated with mutation(s) in any of the following genes: MEN1 (encoding menin); CASR (extracellular calcium-sensing receptor); or CDC73 (parafibromin), although many cases have no identifiable mutation." @default.