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- NCIT_C123230 IAO_0000115 "A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract." @default.
- NCIT_C123230 NCIT_NHC0 "C123230" @default.
- NCIT_C123230 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C123230 NCIT_P108 "Renal Coloboma Syndrome" @default.
- NCIT_C123230 NCIT_P207 "C1852759" @default.
- NCIT_C123230 NCIT_P322 "NICHD" @default.
- NCIT_C123230 NCIT_P325 "A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract." @default.
- NCIT_C123230 NCIT_R176 NCIT_C16612 @default.
- NCIT_C123230 NCIT_R176 NCIT_C20420 @default.
- NCIT_C123230 NCIT_R176 NCIT_C54362 @default.
- NCIT_C123230 NCIT_R176 NCIT_C73656 @default.
- NCIT_C123230 normalizedInformationContent "100" @default.
- NCIT_C123230 referenceCount "1" @default.
- NCIT_C123230 hasExactSynonym "Papillorenal Syndrome" @default.
- NCIT_C123230 hasExactSynonym "Renal Coloboma Syndrome" @default.
- NCIT_C123230 inSubset NCIT_C123272 @default.
- NCIT_C123230 inSubset NCIT_C90259 @default.
- NCIT_C123230 type Class @default.
- NCIT_C123230 isDefinedBy ncit.owl @default.
- NCIT_C123230 label "Renal Coloboma Syndrome" @default.
- NCIT_C123230 subClassOf Bc725ced83ab68961d71172cce8004940 @default.
- NCIT_C123230 subClassOf Bf651763200306a01d2daa943a01e3543 @default.
- NCIT_C123230 subClassOf NCIT_C123230 @default.
- NCIT_C123230 subClassOf NCIT_C28193 @default.
- NCIT_C123230 subClassOf NCIT_C2991 @default.
- NCIT_C123230 subClassOf NCIT_C7057 @default.