loading...| Preferred Name |
Renal Cysts and Diabetes Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123018 |
| ALT_DEFINITION |
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. |
| code |
C123018 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD Cellosaurus |
| DEFINITION |
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. |
| FULL_SYN |
RCAD Syndrome RCAD MODY5 Renal Cysts and Diabetes Syndrome HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes Maturity Onset Diabetes of the Young, Type 5 |
| label |
Renal Cysts and Diabetes Syndrome |
| Preferred_Name |
Renal Cysts and Diabetes Syndrome |
| prefixIRI |
Thesaurus:C123018 |
| prefLabel |
Renal Cysts and Diabetes Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0431693 |
| subClassOf |