Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

FJHN, ATYPICAL

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

FJHN

MODY5

HNF1B

HPC11

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/MTHU018052

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/MTHU000572

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU041291

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/MTHU018051

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

604284

notation

137920

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

RENAL CYSTS AND DIABETES SYNDROME

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C535520 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535520 Medical Subject Headings LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123018 National Cancer Institute Thesaurus LOOM