loading...| Preferred Name |
Renal Cysts and Diabetes Syndrome |
|
| Synonyms |
|
|
| 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://purl.obolibrary.org/obo/NCIT_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 |
|
| 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. |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C118467 |
|
| label |
Renal Cysts and Diabetes Syndrome |
|
| Preferred_Name |
Renal Cysts and Diabetes Syndrome |
|
| prefixIRI |
NCIT:C123018 |
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| prefLabel |
Renal Cysts and Diabetes Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0431693 |
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| subClassOf |