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- Bb0da468d8be57f98980f3f76d64d50e5 NCIT_P378 "NICHD" @default.
- Bb0da468d8be57f98980f3f76d64d50e5 type Axiom @default.
- Bb0da468d8be57f98980f3f76d64d50e5 annotatedProperty NCIT_P325 @default.
- Bb0da468d8be57f98980f3f76d64d50e5 annotatedSource NCIT_C123251 @default.
- Bb0da468d8be57f98980f3f76d64d50e5 annotatedTarget "An autosomal recessive condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the SCNN1A, SCNN1B, or SCNN1G genes encoding subunits of the epithelial sodium channel (ENaC)." @default.