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- NCIT_C131430 IAO_0000115 "A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations." @default.
- NCIT_C131430 NCIT_NHC0 "C131430" @default.
- NCIT_C131430 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131430 NCIT_P108 "Craniotubular Hyperostosis" @default.
- NCIT_C131430 NCIT_P208 "CL514621" @default.
- NCIT_C131430 NCIT_P322 "NICHD" @default.
- NCIT_C131430 NCIT_P325 "A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations." @default.
- NCIT_C131430 NCIT_R100 NCIT_C12219 @default.
- NCIT_C131430 NCIT_R100 NCIT_C12366 @default.
- NCIT_C131430 NCIT_R100 NCIT_C12754 @default.
- NCIT_C131430 NCIT_R100 NCIT_C12801 @default.
- NCIT_C131430 NCIT_R100 NCIT_C12919 @default.
- NCIT_C131430 NCIT_R100 NCIT_C12964 @default.
- NCIT_C131430 NCIT_R100 NCIT_C25769 @default.
- NCIT_C131430 NCIT_R100 NCIT_C32221 @default.
- NCIT_C131430 NCIT_R100 NCIT_C34076 @default.
- NCIT_C131430 NCIT_R101 NCIT_C12219 @default.
- NCIT_C131430 NCIT_R101 NCIT_C12366 @default.
- NCIT_C131430 NCIT_R101 NCIT_C25769 @default.
- NCIT_C131430 NCIT_R101 NCIT_C32221 @default.
- NCIT_C131430 NCIT_R101 NCIT_C34076 @default.
- NCIT_C131430 NCIT_R103 NCIT_C12219 @default.
- NCIT_C131430 NCIT_R103 NCIT_C12801 @default.
- NCIT_C131430 NCIT_R103 NCIT_C12964 @default.
- NCIT_C131430 normalizedInformationContent "100" @default.
- NCIT_C131430 referenceCount "1" @default.
- NCIT_C131430 hasExactSynonym "Craniotubular Hyperostosis" @default.
- NCIT_C131430 inSubset NCIT_C118467 @default.
- NCIT_C131430 inSubset NCIT_C90259 @default.
- NCIT_C131430 type Class @default.
- NCIT_C131430 isDefinedBy ncit.owl @default.
- NCIT_C131430 label "Craniotubular Hyperostosis" @default.
- NCIT_C131430 subClassOf B5d64f2ffd734cdb21c199bef31f9a6ac @default.
- NCIT_C131430 subClassOf B964e33b9a4778fde883ed5ee3846a9e4 @default.
- NCIT_C131430 subClassOf NCIT_C107377 @default.
- NCIT_C131430 subClassOf NCIT_C131430 @default.
- NCIT_C131430 subClassOf NCIT_C166355 @default.
- NCIT_C131430 subClassOf NCIT_C26326 @default.
- NCIT_C131430 subClassOf NCIT_C26729 @default.
- NCIT_C131430 subClassOf NCIT_C27551 @default.
- NCIT_C131430 subClassOf NCIT_C27572 @default.
- NCIT_C131430 subClassOf NCIT_C27574 @default.
- NCIT_C131430 subClassOf NCIT_C2991 @default.
- NCIT_C131430 subClassOf NCIT_C34712 @default.
- NCIT_C131430 subClassOf NCIT_C53529 @default.
- NCIT_C131430 subClassOf NCIT_C53531 @default.
- NCIT_C131430 subClassOf NCIT_C7057 @default.