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 | |
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 | |
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 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C535520 | Medical Subject Headings | LOOM | |
http://purl.bioontology.org/ontology/OMIM/137920 | Online Mendelian Inheritance in Man | LOOM |