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- NCIT_C131076 IAO_0000115 "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations." @default.
- NCIT_C131076 NCIT_NHC0 "C131076" @default.
- NCIT_C131076 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131076 NCIT_P108 "Vitamin D Dependent Rickets 2b" @default.
- NCIT_C131076 NCIT_P208 "CL521299" @default.
- NCIT_C131076 NCIT_P322 "NICHD" @default.
- NCIT_C131076 NCIT_P325 "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets, including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations." @default.
- NCIT_C131076 NCIT_R100 NCIT_C12219 @default.
- NCIT_C131076 NCIT_R100 NCIT_C12366 @default.
- NCIT_C131076 NCIT_R100 NCIT_C12754 @default.
- NCIT_C131076 NCIT_R100 NCIT_C12801 @default.
- NCIT_C131076 NCIT_R100 NCIT_C12919 @default.
- NCIT_C131076 NCIT_R100 NCIT_C12964 @default.
- NCIT_C131076 NCIT_R100 NCIT_C25769 @default.
- NCIT_C131076 NCIT_R100 NCIT_C32221 @default.
- NCIT_C131076 NCIT_R100 NCIT_C34076 @default.
- NCIT_C131076 NCIT_R101 NCIT_C12219 @default.
- NCIT_C131076 NCIT_R101 NCIT_C12366 @default.
- NCIT_C131076 NCIT_R101 NCIT_C25769 @default.
- NCIT_C131076 NCIT_R101 NCIT_C32221 @default.
- NCIT_C131076 NCIT_R101 NCIT_C34076 @default.
- NCIT_C131076 NCIT_R103 NCIT_C12219 @default.
- NCIT_C131076 NCIT_R103 NCIT_C12801 @default.
- NCIT_C131076 NCIT_R103 NCIT_C12964 @default.
- NCIT_C131076 normalizedInformationContent "100" @default.
- NCIT_C131076 referenceCount "1" @default.
- NCIT_C131076 hasExactSynonym "Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets with Abnormal Vitamin D Receptor without Alopecia" @default.
- NCIT_C131076 hasExactSynonym "Vitamin D Dependent Rickets 2b" @default.
- NCIT_C131076 hasExactSynonym "Vitamin D Receptor Signaling Defect Rickets" @default.
- NCIT_C131076 hasExactSynonym "Vitamin D Resistant Rickets" @default.
- NCIT_C131076 inSubset NCIT_C118467 @default.
- NCIT_C131076 inSubset NCIT_C90259 @default.
- NCIT_C131076 type Class @default.
- NCIT_C131076 isDefinedBy ncit.owl @default.
- NCIT_C131076 label "Vitamin D Dependent Rickets 2b" @default.
- NCIT_C131076 subClassOf NCIT_C107377 @default.
- NCIT_C131076 subClassOf NCIT_C131076 @default.
- NCIT_C131076 subClassOf NCIT_C131077 @default.
- NCIT_C131076 subClassOf NCIT_C166355 @default.
- NCIT_C131076 subClassOf NCIT_C26326 @default.
- NCIT_C131076 subClassOf NCIT_C26729 @default.
- NCIT_C131076 subClassOf NCIT_C26878 @default.
- NCIT_C131076 subClassOf NCIT_C27551 @default.
- NCIT_C131076 subClassOf NCIT_C27572 @default.
- NCIT_C131076 subClassOf NCIT_C27574 @default.
- NCIT_C131076 subClassOf NCIT_C2991 @default.
- NCIT_C131076 subClassOf NCIT_C53529 @default.
- NCIT_C131076 subClassOf NCIT_C53531 @default.
- NCIT_C131076 subClassOf NCIT_C7057 @default.