National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Id http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123018
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123018
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.
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
Type http://www.w3.org/2002/07/owl#Class

All Properties

label
Renal Cysts and Diabetes Syndrome
Preferred_Name
Renal Cysts and Diabetes Syndrome
Semantic_Type
Disease or Syndrome
prefixIRI
Thesaurus:C123018
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.
UMLS_CUI
C0431693
code
C123018
subClassOf
type
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
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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.
Contributing_Source
Cellosaurus
NICHD
Concept_In_Subset
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