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- NCIT_C126810 IAO_0000115 "An autosomal dominant condition presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone, associated with loss-of-function mutation(s) in the NR3C2 gene, encoding the mineralocorticoid receptor." @default.
- NCIT_C126810 NCIT_A13 NCIT_C39645 @default.
- NCIT_C126810 NCIT_NHC0 "C126810" @default.
- NCIT_C126810 NCIT_P106 "Finding" @default.
- NCIT_C126810 NCIT_P108 "Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect" @default.
- NCIT_C126810 NCIT_P207 "C1449842" @default.
- NCIT_C126810 NCIT_P322 "NICHD" @default.
- NCIT_C126810 NCIT_P325 "An autosomal dominant condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the NR3C2 gene encoding the mineralocorticoid receptor." @default.
- NCIT_C126810 normalizedInformationContent "100" @default.
- NCIT_C126810 referenceCount "1" @default.
- NCIT_C126810 hasExactSynonym "Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect" @default.
- NCIT_C126810 hasExactSynonym "PHA1AD" @default.
- NCIT_C126810 hasExactSynonym "Pseudohypoaldosteronism Type I Autosomal Dominant" @default.
- NCIT_C126810 inSubset NCIT_C118467 @default.
- NCIT_C126810 inSubset NCIT_C90259 @default.
- NCIT_C126810 type Class @default.
- NCIT_C126810 isDefinedBy ncit.owl @default.
- NCIT_C126810 label "Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect" @default.
- NCIT_C126810 subClassOf NCIT_C126810 @default.
- NCIT_C126810 subClassOf NCIT_C3367 @default.
- NCIT_C126810 subClassOf NCIT_C36278 @default.
- NCIT_C126810 subClassOf NCIT_C36285 @default.
- NCIT_C126810 subClassOf NCIT_C7057 @default.
- NCIT_C126810 subClassOf NCIT_C92809 @default.