Preferred Name

RENAL CYSTS AND DIABETES SYNDROME

Synonyms

CAKUT WITH DIABETES

ID

http://purl.bioontology.org/ontology/OMIM/137920

altLabel

CAKUT WITH DIABETES

RCAD

MODY5

TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 3

FJHN, ATYPICAL

ADTKD3

CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL

GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC

GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5

cui

C0431693

Gene Locus

17q12

Gene Symbol

HNF2

TCF2

RCAD

T2D

HNF1B

ADTKD3

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU041289

http://purl.bioontology.org/ontology/OMIM/MTHU010148

http://purl.bioontology.org/ontology/OMIM/MTHU018038

http://purl.bioontology.org/ontology/OMIM/MTHU018030

http://purl.bioontology.org/ontology/OMIM/MTHU018036

http://purl.bioontology.org/ontology/OMIM/MTHU011898

http://purl.bioontology.org/ontology/OMIM/MTHU004766

http://purl.bioontology.org/ontology/OMIM/MTHU018034

http://purl.bioontology.org/ontology/OMIM/MTHU018032

http://purl.bioontology.org/ontology/OMIM/MTHU018028

http://purl.bioontology.org/ontology/OMIM/MTHU018046

http://purl.bioontology.org/ontology/OMIM/MTHU041290

http://purl.bioontology.org/ontology/OMIM/MTHU018048

http://purl.bioontology.org/ontology/OMIM/MTHU018040

http://purl.bioontology.org/ontology/OMIM/MTHU002761

http://purl.bioontology.org/ontology/OMIM/MTHU003880

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU008708

http://purl.bioontology.org/ontology/OMIM/MTHU036798

http://purl.bioontology.org/ontology/OMIM/MTHU041209

http://purl.bioontology.org/ontology/OMIM/MTHU018029

http://purl.bioontology.org/ontology/OMIM/MTHU036800

http://purl.bioontology.org/ontology/OMIM/MTHU002640

http://purl.bioontology.org/ontology/OMIM/MTHU018039

http://purl.bioontology.org/ontology/OMIM/MTHU018049

http://purl.bioontology.org/ontology/OMIM/MTHU013357

http://purl.bioontology.org/ontology/OMIM/MTHU018035

http://purl.bioontology.org/ontology/OMIM/MTHU018043

http://purl.bioontology.org/ontology/OMIM/MTHU018037

http://purl.bioontology.org/ontology/OMIM/MTHU018041

http://purl.bioontology.org/ontology/OMIM/MTHU018031

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU009946

http://purl.bioontology.org/ontology/OMIM/MTHU018047

http://purl.bioontology.org/ontology/OMIM/MTHU036763

http://purl.bioontology.org/ontology/OMIM/MTHU018045

http://purl.bioontology.org/ontology/OMIM/MTHU036799

http://purl.bioontology.org/ontology/OMIM/MTHU036801

http://purl.bioontology.org/ontology/OMIM/MTHU002507

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

609886

604284

notation

137920

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

RENAL CYSTS AND DIABETES SYNDROME

Scope Statement

Caused by mutation in the hepatocyte nuclear factor-1-beta gene (TCF2, 189907.0001) [MOLECULAR BASIS]

Highly variable phenotype [MISCELLANEOUS]

If onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (MODY5) [MISCELLANEOUS]

Variable age at onset, range infancy to adult [MISCELLANEOUS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007669 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007669 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C535520 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535520 Medical Subject Headings / 医学主题词表 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123018 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM