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- NCIT_C123251 IAO_0000115 "A hereditary, heterogeneous disorder of electrolyte metabolism that is characterized by renal resistance to aldosterone action, resulting in salt wasting, hypotension, hyperkalemia, and metabolic acidosis." @default.
- NCIT_C123251 NCIT_NHC0 "C123251" @default.
- NCIT_C123251 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C123251 NCIT_P108 "Pseudohypoaldosteronism Type 1" @default.
- NCIT_C123251 NCIT_P207 "C0268436" @default.
- NCIT_C123251 NCIT_P322 "NICHD" @default.
- NCIT_C123251 NCIT_P325 "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.
- NCIT_C123251 NCIT_R176 NCIT_C16612 @default.
- NCIT_C123251 NCIT_R176 NCIT_C20103 @default.
- NCIT_C123251 NCIT_R176 NCIT_C20420 @default.
- NCIT_C123251 NCIT_R176 NCIT_C20709 @default.
- NCIT_C123251 NCIT_R176 NCIT_C21295 @default.
- NCIT_C123251 NCIT_R176 NCIT_C39645 @default.
- NCIT_C123251 NCIT_R176 NCIT_C54362 @default.
- NCIT_C123251 normalizedInformationContent "100" @default.
- NCIT_C123251 referenceCount "1" @default.
- NCIT_C123251 hasExactSynonym "PHA1B" @default.
- NCIT_C123251 hasExactSynonym "Pseudohypoaldosteronism Type 1" @default.
- NCIT_C123251 hasExactSynonym "Pseudohypoaldosteronism Type I Autosomal Recessive" @default.
- NCIT_C123251 inSubset NCIT_C118467 @default.
- NCIT_C123251 inSubset NCIT_C123272 @default.
- NCIT_C123251 inSubset NCIT_C90259 @default.
- NCIT_C123251 type Class @default.
- NCIT_C123251 isDefinedBy ncit.owl @default.
- NCIT_C123251 label "Pseudohypoaldosteronism Type 1" @default.
- NCIT_C123251 subClassOf B5d420297866c06cd7632c45c8be17b7b @default.
- NCIT_C123251 subClassOf Bb0b0d62effa35f01b4c9d27dec2e5792 @default.
- NCIT_C123251 subClassOf NCIT_C123251 @default.
- NCIT_C123251 subClassOf NCIT_C2991 @default.
- NCIT_C123251 subClassOf NCIT_C4873 @default.
- NCIT_C123251 subClassOf NCIT_C53529 @default.
- NCIT_C123251 subClassOf NCIT_C53543 @default.
- NCIT_C123251 subClassOf NCIT_C53547 @default.
- NCIT_C123251 subClassOf NCIT_C7057 @default.
- NCIT_C123251 subClassOf NCIT_C85034 @default.