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- NCIT_C131429 IAO_0000115 "An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood." @default.
- NCIT_C131429 NCIT_NHC0 "C131429" @default.
- NCIT_C131429 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131429 NCIT_P108 "Craniodiaphyseal Dysplasia" @default.
- NCIT_C131429 NCIT_P207 "C0410539" @default.
- NCIT_C131429 NCIT_P322 "NICHD" @default.
- NCIT_C131429 NCIT_P325 "An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood." @default.
- NCIT_C131429 NCIT_R100 NCIT_C12219 @default.
- NCIT_C131429 NCIT_R100 NCIT_C12366 @default.
- NCIT_C131429 NCIT_R100 NCIT_C12754 @default.
- NCIT_C131429 NCIT_R100 NCIT_C12801 @default.
- NCIT_C131429 NCIT_R100 NCIT_C12919 @default.
- NCIT_C131429 NCIT_R100 NCIT_C12964 @default.
- NCIT_C131429 NCIT_R100 NCIT_C25769 @default.
- NCIT_C131429 NCIT_R100 NCIT_C32221 @default.
- NCIT_C131429 NCIT_R100 NCIT_C34076 @default.
- NCIT_C131429 NCIT_R101 NCIT_C12219 @default.
- NCIT_C131429 NCIT_R101 NCIT_C12366 @default.
- NCIT_C131429 NCIT_R101 NCIT_C25769 @default.
- NCIT_C131429 NCIT_R101 NCIT_C32221 @default.
- NCIT_C131429 NCIT_R101 NCIT_C34076 @default.
- NCIT_C131429 NCIT_R103 NCIT_C12219 @default.
- NCIT_C131429 NCIT_R103 NCIT_C12801 @default.
- NCIT_C131429 NCIT_R103 NCIT_C12964 @default.
- NCIT_C131429 NCIT_R176 NCIT_C105076 @default.
- NCIT_C131429 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131429 NCIT_R176 NCIT_C20921 @default.
- NCIT_C131429 normalizedInformationContent "100" @default.
- NCIT_C131429 referenceCount "1" @default.
- NCIT_C131429 hasExactSynonym "CDD" @default.
- NCIT_C131429 hasExactSynonym "Craniodiaphyseal Dysplasia" @default.
- NCIT_C131429 hasExactSynonym "Lionitis" @default.
- NCIT_C131429 inSubset NCIT_C118467 @default.
- NCIT_C131429 inSubset NCIT_C90259 @default.
- NCIT_C131429 type Class @default.
- NCIT_C131429 isDefinedBy ncit.owl @default.
- NCIT_C131429 label "Craniodiaphyseal Dysplasia" @default.
- NCIT_C131429 subClassOf B4a9f930c3a1c95b00f3aeb94d2599367 @default.
- NCIT_C131429 subClassOf Bcaee69c33d922dd87b7a5f9a04ce79c3 @default.
- NCIT_C131429 subClassOf NCIT_C107377 @default.
- NCIT_C131429 subClassOf NCIT_C131429 @default.
- NCIT_C131429 subClassOf NCIT_C166355 @default.
- NCIT_C131429 subClassOf NCIT_C26326 @default.
- NCIT_C131429 subClassOf NCIT_C26729 @default.
- NCIT_C131429 subClassOf NCIT_C27551 @default.
- NCIT_C131429 subClassOf NCIT_C27572 @default.
- NCIT_C131429 subClassOf NCIT_C27574 @default.
- NCIT_C131429 subClassOf NCIT_C2991 @default.
- NCIT_C131429 subClassOf NCIT_C34712 @default.
- NCIT_C131429 subClassOf NCIT_C53529 @default.
- NCIT_C131429 subClassOf NCIT_C53531 @default.
- NCIT_C131429 subClassOf NCIT_C7057 @default.