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- NCIT_C84643 IAO_0000115 "An inherited syndrome caused by mutations in the RPS6KA3 gene. It is characterized by mental retardation, developmental delay, microcephaly, short stature and kyphoscoliosis." @default.
- NCIT_C84643 NCIT_NHC0 "C84643" @default.
- NCIT_C84643 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84643 NCIT_P108 "Coffin-Lowry Syndrome" @default.
- NCIT_C84643 NCIT_P207 "C0265252" @default.
- NCIT_C84643 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84643 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84643 NCIT_R176 NCIT_C181645 @default.
- NCIT_C84643 NCIT_R176 NCIT_C20921 @default.
- NCIT_C84643 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84643 NCIT_R176 NCIT_C25870 @default.
- NCIT_C84643 NCIT_R176 NCIT_C25871 @default.
- NCIT_C84643 NCIT_R176 NCIT_C25872 @default.
- NCIT_C84643 NCIT_R176 NCIT_C25873 @default.
- NCIT_C84643 normalizedInformationContent "100" @default.
- NCIT_C84643 referenceCount "1" @default.
- NCIT_C84643 hasExactSynonym "Coffin-Lowry Syndrome" @default.
- NCIT_C84643 inSubset NCIT_C165258 @default.
- NCIT_C84643 inSubset NCIT_C192842 @default.
- NCIT_C84643 type Class @default.
- NCIT_C84643 isDefinedBy ncit.owl @default.
- NCIT_C84643 label "Coffin-Lowry Syndrome" @default.
- NCIT_C84643 subClassOf B9cfad1e150ab6cc3c29647d6cbe54f89 @default.
- NCIT_C84643 subClassOf B9fbe3dc3704627e35e5ad674028222f7 @default.
- NCIT_C84643 subClassOf NCIT_C28193 @default.
- NCIT_C84643 subClassOf NCIT_C2991 @default.
- NCIT_C84643 subClassOf NCIT_C4873 @default.
- NCIT_C84643 subClassOf NCIT_C53529 @default.
- NCIT_C84643 subClassOf NCIT_C53543 @default.
- NCIT_C84643 subClassOf NCIT_C53547 @default.
- NCIT_C84643 subClassOf NCIT_C7057 @default.
- NCIT_C84643 subClassOf NCIT_C84643 @default.