National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Renal Cysts and Diabetes Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123018

ALT_DEFINITION

A condition associated with mutation(s) in the HNF1B gene or TCF2, characterized by renal cysts and early onset non-insulin dependent 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

Contributing_Source

NICHD

DEFINITION

A condition associated with mutation(s) in the HNF1B gene or TCF2, characterized by renal cysts and early onset non-insulin dependent diabetes.

FULL_SYN

RCAD Syndrome

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

label

Renal Cysts and Diabetes Syndrome

NICHD_Hierarchy_Term

Renal Cysts and Diabetes Syndrome

Preferred_Name

Renal Cysts and Diabetes Syndrome

prefixIRI

C123018

prefLabel

Renal Cysts and Diabetes Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0431693

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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http://purl.bioontology.org/ontology/MESH/C535520 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/137920 Online Mendelian Inheritance in Man LOOM