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- NCIT_C84610 IAO_0000115 "An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness." @default.
- NCIT_C84610 NCIT_NHC0 "C84610" @default.
- NCIT_C84610 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84610 NCIT_P108 "Camurati-Engelmann Syndrome" @default.
- NCIT_C84610 NCIT_P207 "C0011989" @default.
- NCIT_C84610 NCIT_P322 "NICHD" @default.
- NCIT_C84610 NCIT_P325 "An autosomal dominant form of craniotubular hyperostosis due to mutation(s) in the TGFB1 gene, encoding transforming growth factor beta-1. In addition to the long bone dysplasia, anemia, leukopenia, and hepatosplenomegaly may occur." @default.
- NCIT_C84610 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84610 NCIT_R176 NCIT_C21344 @default.
- NCIT_C84610 NCIT_R176 NCIT_C21345 @default.
- NCIT_C84610 NCIT_R176 NCIT_C24856 @default.
- NCIT_C84610 normalizedInformationContent "100" @default.
- NCIT_C84610 referenceCount "1" @default.
- NCIT_C84610 hasExactSynonym "Camurati-Engelmann Syndrome" @default.
- NCIT_C84610 hasExactSynonym "Camurati-Englemann Disease" @default.
- NCIT_C84610 hasExactSynonym "Progressive Diaphyseal Dysplasia" @default.
- NCIT_C84610 inSubset NCIT_C118467 @default.
- NCIT_C84610 inSubset NCIT_C90259 @default.
- NCIT_C84610 type Class @default.
- NCIT_C84610 isDefinedBy ncit.owl @default.
- NCIT_C84610 label "Camurati-Engelmann Syndrome" @default.
- NCIT_C84610 subClassOf B15d1b0096ce4b4c1366852272389edd9 @default.
- NCIT_C84610 subClassOf B58fc4eb8d82d06a6d869371ed1578f50 @default.
- NCIT_C84610 subClassOf NCIT_C28193 @default.
- NCIT_C84610 subClassOf NCIT_C2991 @default.
- NCIT_C84610 subClassOf NCIT_C4873 @default.
- NCIT_C84610 subClassOf NCIT_C53529 @default.
- NCIT_C84610 subClassOf NCIT_C53543 @default.
- NCIT_C84610 subClassOf NCIT_C53547 @default.
- NCIT_C84610 subClassOf NCIT_C7057 @default.
- NCIT_C84610 subClassOf NCIT_C84610 @default.