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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C123018
http://purl.obolibrary.org/obo/NCIT_C123018
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|---|---|
| Preferred Name | Renal Cysts and Diabetes Syndrome |
| 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.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Renal Cysts and Diabetes Syndrome
|
| prefLabel |
Renal Cysts and Diabetes Syndrome
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| in_subset | |
| Preferred_Name |
Renal Cysts and Diabetes Syndrome
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| UMLS_CUI |
C0431693
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| prefixIRI |
NCIT:C123018
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| Contributing_Source |
Cellosaurus
NICHD
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| subClassOf | |
| code |
C123018
|
| type | |
| 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.
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| Semantic_Type |
Disease or Syndrome
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