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- NCIT_C131812 IAO_0000115 "An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis." @default.
- NCIT_C131812 NCIT_A13 NCIT_C105076 @default.
- NCIT_C131812 NCIT_NHC0 "C131812" @default.
- NCIT_C131812 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131812 NCIT_P108 "Endosteal Hyperostosis" @default.
- NCIT_C131812 NCIT_P207 "C0432271" @default.
- NCIT_C131812 NCIT_P322 "NICHD" @default.
- NCIT_C131812 NCIT_P325 "An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis." @default.
- NCIT_C131812 NCIT_R100 NCIT_C12219 @default.
- NCIT_C131812 NCIT_R100 NCIT_C12366 @default.
- NCIT_C131812 NCIT_R100 NCIT_C12754 @default.
- NCIT_C131812 NCIT_R100 NCIT_C12801 @default.
- NCIT_C131812 NCIT_R100 NCIT_C12919 @default.
- NCIT_C131812 NCIT_R100 NCIT_C12964 @default.
- NCIT_C131812 NCIT_R100 NCIT_C25769 @default.
- NCIT_C131812 NCIT_R100 NCIT_C32221 @default.
- NCIT_C131812 NCIT_R100 NCIT_C34076 @default.
- NCIT_C131812 NCIT_R101 NCIT_C12219 @default.
- NCIT_C131812 NCIT_R101 NCIT_C12366 @default.
- NCIT_C131812 NCIT_R101 NCIT_C25769 @default.
- NCIT_C131812 NCIT_R101 NCIT_C32221 @default.
- NCIT_C131812 NCIT_R101 NCIT_C34076 @default.
- NCIT_C131812 NCIT_R103 NCIT_C12219 @default.
- NCIT_C131812 NCIT_R103 NCIT_C12801 @default.
- NCIT_C131812 NCIT_R103 NCIT_C12964 @default.
- NCIT_C131812 NCIT_R176 NCIT_C105076 @default.
- NCIT_C131812 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131812 NCIT_R176 NCIT_C20921 @default.
- NCIT_C131812 normalizedInformationContent "100" @default.
- NCIT_C131812 referenceCount "1" @default.
- NCIT_C131812 hasExactSynonym "Endosteal Hyperostosis" @default.
- NCIT_C131812 hasExactSynonym "van Buchem Disease Type 1" @default.
- NCIT_C131812 hasExactSynonym "van Buchem Disease" @default.
- NCIT_C131812 inSubset NCIT_C118467 @default.
- NCIT_C131812 inSubset NCIT_C90259 @default.
- NCIT_C131812 type Class @default.
- NCIT_C131812 isDefinedBy ncit.owl @default.
- NCIT_C131812 label "Endosteal Hyperostosis" @default.
- NCIT_C131812 subClassOf Bdd672ef60f011aeacccf13853a66ca49 @default.
- NCIT_C131812 subClassOf Bef2ed4d86bda8462ee6bc472205089e8 @default.
- NCIT_C131812 subClassOf NCIT_C107377 @default.
- NCIT_C131812 subClassOf NCIT_C131812 @default.
- NCIT_C131812 subClassOf NCIT_C166355 @default.
- NCIT_C131812 subClassOf NCIT_C26326 @default.
- NCIT_C131812 subClassOf NCIT_C26729 @default.
- NCIT_C131812 subClassOf NCIT_C27551 @default.
- NCIT_C131812 subClassOf NCIT_C27572 @default.
- NCIT_C131812 subClassOf NCIT_C27574 @default.
- NCIT_C131812 subClassOf NCIT_C2991 @default.
- NCIT_C131812 subClassOf NCIT_C34712 @default.
- NCIT_C131812 subClassOf NCIT_C53529 @default.
- NCIT_C131812 subClassOf NCIT_C53531 @default.
- NCIT_C131812 subClassOf NCIT_C7057 @default.