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- NCIT_C75470 IAO_0000115 "A genetic syndrome caused by microdeletions in chromosome 17q21. The microdeletions encompass the MAPT and CRHR1 genes. It is characterized by mental retardation, hypotonia, distinctive facial features (long face, low-set ears, and pear-shaped nose), friendly behavior, and heart defects." @default.
- NCIT_C75470 NCIT_NHC0 "C75470" @default.
- NCIT_C75470 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75470 NCIT_P108 "17q21 Microdeletion Syndrome" @default.
- NCIT_C75470 NCIT_P207 "C2699198" @default.
- NCIT_C75470 NCIT_P366 "Chromosome_17q21_Microdeletion_Syndrome" @default.
- NCIT_C75470 NCIT_R174 NCIT_C12219 @default.
- NCIT_C75470 NCIT_R174 NCIT_C13202 @default.
- NCIT_C75470 NCIT_R174 NCIT_C13203 @default.
- NCIT_C75470 NCIT_R174 NCIT_C13212 @default.
- NCIT_C75470 NCIT_R174 NCIT_C13404 @default.
- NCIT_C75470 NCIT_R174 NCIT_C14134 @default.
- NCIT_C75470 NCIT_R174 NCIT_C21599 @default.
- NCIT_C75470 normalizedInformationContent "100" @default.
- NCIT_C75470 referenceCount "1" @default.
- NCIT_C75470 hasExactSynonym "17q21 Microdeletion Syndrome" @default.
- NCIT_C75470 type Class @default.
- NCIT_C75470 isDefinedBy ncit.owl @default.
- NCIT_C75470 label "17q21 Microdeletion Syndrome" @default.
- NCIT_C75470 subClassOf B303924a85849b7d7f6ac9a3986d7ada0 @default.
- NCIT_C75470 subClassOf B87f23f1805d7761770171d0d87b5deba @default.
- NCIT_C75470 subClassOf NCIT_C28193 @default.
- NCIT_C75470 subClassOf NCIT_C2991 @default.
- NCIT_C75470 subClassOf NCIT_C4873 @default.
- NCIT_C75470 subClassOf NCIT_C53529 @default.
- NCIT_C75470 subClassOf NCIT_C53543 @default.
- NCIT_C75470 subClassOf NCIT_C53547 @default.
- NCIT_C75470 subClassOf NCIT_C7057 @default.
- NCIT_C75470 subClassOf NCIT_C75470 @default.