loading...| Preferred Name |
Renal Cysts and Diabetes Syndrome |
|
| Synonyms |
RCAD Syndrome Renal Cysts and Diabetes Syndrome Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes Maturity Onset Diabetes of the Young, Type 5 HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease MODY5 RCAD |
|
| Definitions |
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. |
|
| 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#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| 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 Renal Cysts and Diabetes Syndrome Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes Maturity Onset Diabetes of the Young, Type 5 HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease MODY5 RCAD |
|
| label |
Renal Cysts and Diabetes Syndrome |
|
| Preferred_Name |
Renal Cysts and Diabetes Syndrome |
|
| prefixIRI |
Thesaurus:C123018 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0431693 |
|
| subClassOf |