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- NCIT_C131077 IAO_0000115 "An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets and alopecia." @default.
- NCIT_C131077 NCIT_A13 NCIT_C18503 @default.
- NCIT_C131077 NCIT_NHC0 "C131077" @default.
- NCIT_C131077 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131077 NCIT_P108 "Vitamin D Dependent Rickets 2" @default.
- NCIT_C131077 NCIT_P208 "CL514185" @default.
- NCIT_C131077 NCIT_P322 "NICHD" @default.
- NCIT_C131077 NCIT_P325 "An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets, and alopecia." @default.
- NCIT_C131077 NCIT_R100 NCIT_C12219 @default.
- NCIT_C131077 NCIT_R100 NCIT_C12366 @default.
- NCIT_C131077 NCIT_R100 NCIT_C12754 @default.
- NCIT_C131077 NCIT_R100 NCIT_C12801 @default.
- NCIT_C131077 NCIT_R100 NCIT_C12919 @default.
- NCIT_C131077 NCIT_R100 NCIT_C12964 @default.
- NCIT_C131077 NCIT_R100 NCIT_C25769 @default.
- NCIT_C131077 NCIT_R100 NCIT_C32221 @default.
- NCIT_C131077 NCIT_R100 NCIT_C34076 @default.
- NCIT_C131077 NCIT_R101 NCIT_C12219 @default.
- NCIT_C131077 NCIT_R101 NCIT_C12366 @default.
- NCIT_C131077 NCIT_R101 NCIT_C25769 @default.
- NCIT_C131077 NCIT_R101 NCIT_C32221 @default.
- NCIT_C131077 NCIT_R101 NCIT_C34076 @default.
- NCIT_C131077 NCIT_R103 NCIT_C12219 @default.
- NCIT_C131077 NCIT_R103 NCIT_C12801 @default.
- NCIT_C131077 NCIT_R103 NCIT_C12964 @default.
- NCIT_C131077 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C131077 referenceCount "3" @default.
- NCIT_C131077 hasExactSynonym "Hereditary 1,25 Dihydroxyvitamin D-resistant Rickets with Abnormal Vitamin D Receptor" @default.
- NCIT_C131077 hasExactSynonym "VDDR2" @default.
- NCIT_C131077 hasExactSynonym "Vitamin D Dependent Rickets 2" @default.
- NCIT_C131077 hasExactSynonym "Vitamin D Receptor Deficiency" @default.
- NCIT_C131077 inSubset NCIT_C118467 @default.
- NCIT_C131077 inSubset NCIT_C90259 @default.
- NCIT_C131077 type Class @default.
- NCIT_C131077 isDefinedBy ncit.owl @default.
- NCIT_C131077 label "Vitamin D Dependent Rickets 2" @default.
- NCIT_C131077 subClassOf NCIT_C107377 @default.
- NCIT_C131077 subClassOf NCIT_C131077 @default.
- NCIT_C131077 subClassOf NCIT_C166355 @default.
- NCIT_C131077 subClassOf NCIT_C26326 @default.
- NCIT_C131077 subClassOf NCIT_C26729 @default.
- NCIT_C131077 subClassOf NCIT_C26878 @default.
- NCIT_C131077 subClassOf NCIT_C27551 @default.
- NCIT_C131077 subClassOf NCIT_C27572 @default.
- NCIT_C131077 subClassOf NCIT_C27574 @default.
- NCIT_C131077 subClassOf NCIT_C2991 @default.
- NCIT_C131077 subClassOf NCIT_C53529 @default.
- NCIT_C131077 subClassOf NCIT_C53531 @default.
- NCIT_C131077 subClassOf NCIT_C7057 @default.