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- NCIT_C129734 IAO_0000115 "A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis." @default.
- NCIT_C129734 NCIT_A13 NCIT_C104146 @default.
- NCIT_C129734 NCIT_NHC0 "C129734" @default.
- NCIT_C129734 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129734 NCIT_P108 "Autosomal Recessive Infantile Hypercalcemia" @default.
- NCIT_C129734 NCIT_P208 "CL513022" @default.
- NCIT_C129734 NCIT_P322 "NICHD" @default.
- NCIT_C129734 NCIT_P325 "A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis." @default.
- NCIT_C129734 normalizedInformationContent "100" @default.
- NCIT_C129734 referenceCount "1" @default.
- NCIT_C129734 hasExactSynonym "Autosomal Recessive Infantile Hypercalcemia" @default.
- NCIT_C129734 hasExactSynonym "Idiopathic Infantile Hypercalcemia" @default.
- NCIT_C129734 inSubset NCIT_C118467 @default.
- NCIT_C129734 inSubset NCIT_C90259 @default.
- NCIT_C129734 type Class @default.
- NCIT_C129734 isDefinedBy ncit.owl @default.
- NCIT_C129734 label "Autosomal Recessive Infantile Hypercalcemia" @default.
- NCIT_C129734 subClassOf NCIT_C129734 @default.
- NCIT_C129734 subClassOf NCIT_C2991 @default.
- NCIT_C129734 subClassOf NCIT_C3101 @default.
- NCIT_C129734 subClassOf NCIT_C7057 @default.