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- NCIT_C131074 IAO_0000115 "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets." @default.
- NCIT_C131074 NCIT_NHC0 "C131074" @default.
- NCIT_C131074 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131074 NCIT_P108 "Vitamin D 25-Hydroxylase Deficiency" @default.
- NCIT_C131074 NCIT_P207 "C1838657" @default.
- NCIT_C131074 NCIT_P322 "NICHD" @default.
- NCIT_C131074 NCIT_P325 "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets." @default.
- NCIT_C131074 NCIT_R100 NCIT_C12219 @default.
- NCIT_C131074 NCIT_R100 NCIT_C12366 @default.
- NCIT_C131074 NCIT_R100 NCIT_C12754 @default.
- NCIT_C131074 NCIT_R100 NCIT_C12801 @default.
- NCIT_C131074 NCIT_R100 NCIT_C12919 @default.
- NCIT_C131074 NCIT_R100 NCIT_C12964 @default.
- NCIT_C131074 NCIT_R100 NCIT_C25769 @default.
- NCIT_C131074 NCIT_R100 NCIT_C32221 @default.
- NCIT_C131074 NCIT_R100 NCIT_C34076 @default.
- NCIT_C131074 NCIT_R101 NCIT_C12219 @default.
- NCIT_C131074 NCIT_R101 NCIT_C12366 @default.
- NCIT_C131074 NCIT_R101 NCIT_C25769 @default.
- NCIT_C131074 NCIT_R101 NCIT_C32221 @default.
- NCIT_C131074 NCIT_R101 NCIT_C34076 @default.
- NCIT_C131074 NCIT_R103 NCIT_C12219 @default.
- NCIT_C131074 NCIT_R103 NCIT_C12801 @default.
- NCIT_C131074 NCIT_R103 NCIT_C12964 @default.
- NCIT_C131074 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131074 NCIT_R176 NCIT_C200310 @default.
- NCIT_C131074 NCIT_R176 NCIT_C21281 @default.
- NCIT_C131074 NCIT_R176 NCIT_C25939 @default.
- NCIT_C131074 NCIT_R176 NCIT_C26511 @default.
- NCIT_C131074 normalizedInformationContent "100" @default.
- NCIT_C131074 referenceCount "1" @default.
- NCIT_C131074 hasExactSynonym "Vitam D Hydroxylation-Deficient Rickets Type 1b" @default.
- NCIT_C131074 hasExactSynonym "Vitamin D 25-Hydroxylase Deficiency" @default.
- NCIT_C131074 hasExactSynonym "Vitamin D Hydroxylation-deficient Rickets Type 1b" @default.
- NCIT_C131074 inSubset NCIT_C118467 @default.
- NCIT_C131074 inSubset NCIT_C90259 @default.
- NCIT_C131074 type Class @default.
- NCIT_C131074 isDefinedBy ncit.owl @default.
- NCIT_C131074 label "Vitamin D 25-Hydroxylase Deficiency" @default.
- NCIT_C131074 subClassOf B3beed2264975197b829f6b7dacb22dd4 @default.
- NCIT_C131074 subClassOf Bd3d3a38cee6415f5be74770879142da9 @default.
- NCIT_C131074 subClassOf NCIT_C107377 @default.
- NCIT_C131074 subClassOf NCIT_C114830 @default.
- NCIT_C131074 subClassOf NCIT_C131074 @default.
- NCIT_C131074 subClassOf NCIT_C157938 @default.
- NCIT_C131074 subClassOf NCIT_C166355 @default.
- NCIT_C131074 subClassOf NCIT_C26326 @default.
- NCIT_C131074 subClassOf NCIT_C26729 @default.
- NCIT_C131074 subClassOf NCIT_C26836 @default.
- NCIT_C131074 subClassOf NCIT_C26878 @default.
- NCIT_C131074 subClassOf NCIT_C27551 @default.
- NCIT_C131074 subClassOf NCIT_C27572 @default.
- NCIT_C131074 subClassOf NCIT_C27574 @default.
- NCIT_C131074 subClassOf NCIT_C2991 @default.
- NCIT_C131074 subClassOf NCIT_C3235 @default.
- NCIT_C131074 subClassOf NCIT_C35772 @default.
- NCIT_C131074 subClassOf NCIT_C53529 @default.
- NCIT_C131074 subClassOf NCIT_C53531 @default.
- NCIT_C131074 subClassOf NCIT_C53547 @default.
- NCIT_C131074 subClassOf NCIT_C7057 @default.