Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	RENAL CYSTS AND DIABETES SYNDROME
Synonyms	CAKUT WITH DIABETES TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 3 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE RCAD GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC FJHN, ATYPICAL MODY5 ADTKD3 CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES
ID	http://purl.bioontology.org/ontology/OMIM/137920
altLabel	CAKUT WITH DIABETES TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 3 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE RCAD GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC FJHN, ATYPICAL MODY5 ADTKD3 CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES
cui	C0431693
Gene Locus	17q12
Gene Symbol	RCAD ADTKD3 TCF2 T2D HNF2 HNF1B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018038 http://purl.bioontology.org/ontology/OMIM/MTHU036799 http://purl.bioontology.org/ontology/OMIM/MTHU003880 http://purl.bioontology.org/ontology/OMIM/MTHU009946 http://purl.bioontology.org/ontology/OMIM/MTHU018029 http://purl.bioontology.org/ontology/OMIM/MTHU013357 http://purl.bioontology.org/ontology/OMIM/MTHU018039 http://purl.bioontology.org/ontology/OMIM/MTHU018032 http://purl.bioontology.org/ontology/OMIM/MTHU008708 http://purl.bioontology.org/ontology/OMIM/MTHU010148 http://purl.bioontology.org/ontology/OMIM/MTHU036801 http://purl.bioontology.org/ontology/OMIM/MTHU018047 http://purl.bioontology.org/ontology/OMIM/MTHU018041 http://purl.bioontology.org/ontology/OMIM/MTHU018035 http://purl.bioontology.org/ontology/OMIM/MTHU018040 http://purl.bioontology.org/ontology/OMIM/MTHU018037 http://purl.bioontology.org/ontology/OMIM/MTHU018030 http://purl.bioontology.org/ontology/OMIM/MTHU036800 http://purl.bioontology.org/ontology/OMIM/MTHU041289 http://purl.bioontology.org/ontology/OMIM/MTHU036798 http://purl.bioontology.org/ontology/OMIM/MTHU018048 http://purl.bioontology.org/ontology/OMIM/MTHU018046 http://purl.bioontology.org/ontology/OMIM/MTHU036763 http://purl.bioontology.org/ontology/OMIM/MTHU041290 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU018043 http://purl.bioontology.org/ontology/OMIM/MTHU002761 http://purl.bioontology.org/ontology/OMIM/MTHU018049 http://purl.bioontology.org/ontology/OMIM/MTHU004766 http://purl.bioontology.org/ontology/OMIM/MTHU041209 http://purl.bioontology.org/ontology/OMIM/MTHU018028 http://purl.bioontology.org/ontology/OMIM/MTHU018045 http://purl.bioontology.org/ontology/OMIM/MTHU011898 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU018031 http://purl.bioontology.org/ontology/OMIM/MTHU018036 http://purl.bioontology.org/ontology/OMIM/MTHU002507 http://purl.bioontology.org/ontology/OMIM/MTHU018034 http://purl.bioontology.org/ontology/OMIM/MTHU002640
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	604284 609886
notation	137920
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	RENAL CYSTS AND DIABETES SYNDROME
Scope Statement	If onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (MODY5) [MISCELLANEOUS] Caused by mutation in the hepatocyte nuclear factor-1-beta gene (TCF2, 189907.0001) [MOLECULAR BASIS] Variable age at onset, range infancy to adult [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS]
tui	T047

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/253864004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/609572000	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/609572000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X785X	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253864004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C535520	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0007669	MONDO	LOOM
http://purl.obolibrary.org/obo/OMIM_137920	CCO	LOOM
http://identifiers.org/omim/137920	REXO	LOOM
http://identifiers.org/omim/137920	GEXO	LOOM
http://identifiers.org/omim/137920	RETO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535520	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12168	HRDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123018	NCIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007669	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007669	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007669	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0007669	KTAO	LOOM
http://purl.bioontology.org/ontology/MESH/C535520	MESH	LOOM
http://purl.obolibrary.org/obo/NCIT_C123018	BERO	LOOM