Renal Cysts and Diabetes Syndrome

Preferred Label : Renal Cysts and Diabetes Syndrome;

NCIt synonyms : Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes; MODY5; HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease;

NCIt related terms : RCAD; RCAD Syndrome; Maturity Onset Diabetes of the Young, Type 5;

NCIt 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.;

Details

Origin ID

C123018;

UMLS CUI

C0431693;

Automatic exact mappings (from CISMeF team)
- HNF1 homeobox B [ORDO Gene]
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- MODY 5 syndrome [ICD-11 More detail]
- Maturity-onset diabetes of the young, type 5 (disorder) [SNOMED CT concept]
- Renal cysts and diabetes syndrome [MeSH concept]
- Renal cysts and diabetes syndrome [OMIM Phenotype]
- Renal cysts and diabetes syndrome (disorder) [Inactive SNOMED CT concept]
- Ufm1-specific ligase 1 [OMIM gene]
- maturity-onset diabetes of the young type 5 [DO Concept]
- renal cysts and diabetes syndrome [MeSH Supplementary Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypoplastic, glomerulocystic kidney (disorder) [SNOMED CT concept]
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Maturity-onset diabetes of the young, type 5 (disorder) [SNOMED CT concept]
- Renal cysts and diabetes syndrome [OMIM Phenotype]
- Renal cysts and diabetes syndrome [MeSH concept]
- Renal cysts and diabetes syndrome (disorder) [Inactive SNOMED CT concept]
- maturity onset diabetes of the young type 5 [Disease (Nov.)]
- maturity-onset diabetes of the young type 5 [DO Concept]
- renal cysts and diabetes syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_normal_cell_origin
- Islet Cell [NCIt concept]
disease_has_normal_tissue_origin
- Islet of Langerhans [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
- Islet of Langerhans [NCIt concept]
disease_mapped_to_gene
- HNF1B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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