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- NCIT_C123018 IAO_0000115 "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes." @default.
- NCIT_C123018 NCIT_NHC0 "C123018" @default.
- NCIT_C123018 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C123018 NCIT_P108 "Renal Cysts and Diabetes Syndrome" @default.
- NCIT_C123018 NCIT_P207 "C0431693" @default.
- NCIT_C123018 NCIT_P322 "Cellosaurus" @default.
- NCIT_C123018 NCIT_P322 "NICHD" @default.
- NCIT_C123018 NCIT_P325 "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes." @default.
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- NCIT_C123018 hasExactSynonym "HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease" @default.
- NCIT_C123018 hasExactSynonym "Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes" @default.
- NCIT_C123018 hasExactSynonym "MODY5" @default.
- NCIT_C123018 hasExactSynonym "Maturity Onset Diabetes of the Young, Type 5" @default.
- NCIT_C123018 hasExactSynonym "RCAD Syndrome" @default.
- NCIT_C123018 hasExactSynonym "RCAD" @default.
- NCIT_C123018 hasExactSynonym "Renal Cysts and Diabetes Syndrome" @default.
- NCIT_C123018 inSubset NCIT_C118467 @default.
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- NCIT_C123018 type Class @default.
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- NCIT_C123018 label "Renal Cysts and Diabetes Syndrome" @default.
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