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Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)Novel mutation in the hepatocyte nuclear factor 1B/maturity – onset diabetes of the young type 5 gene – unreported Vietnamese case.AB072. Novel mutation in the hepatocyte nuclear factor 1b/maturity-onset diabetes of the young type 5 gene—unreported Vietnamese case.Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene.A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).A case of a novel mutation in HNF1β-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family.Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5[Maturity-onset diabetes of the young type 5: a case report]Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing
P921
Q37821513-4770148D-5DB4-4CCE-93CE-67C0E7B4A6A4Q41833309-787CC527-0EE1-455B-8465-9474B3DF7AFEQ45805782-6168D431-B74B-4153-8B5F-D050B0B57A9FQ46659256-96C82EFE-90CC-4517-A71A-7F5517F11A2DQ46772233-34F0A459-A685-4C94-A062-6C814ED09C22Q52680740-00E7820D-7D36-404B-95F5-344BC8E4F127Q53294426-ED2B8BC7-DABE-48E5-B15B-DB90656F625AQ80171612-E46BDBEF-59D5-43E0-8F25-1DACA6C5C538Q81402655-1F945575-E6EC-47EF-9F2A-452529185EFCQ83204637-F0A3A981-8C6F-4483-A58A-78EA8221C871Q85075731-26C852AA-2742-4AB1-9806-B4B6FACE844AQ85904386-C3350A85-7571-4747-94E6-82CA71E90FA8
P921
description
maturity-onset diabetes of the ...... HNF1B gene on chromosome 17q12
@en
name
maturity-onset diabetes of the young type 5
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type
label
maturity-onset diabetes of the young type 5
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altLabel
CAKUT with diabetes
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MODY5
@en
RCAD
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atypical FJHN
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atypical familial juvenile hyperuricemic nephropathy
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congenital anomalies of the kidney and urinary tract with diabetes
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familial hypoplastic glomerulocystic kidney
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hypoplastic type glomerulocystic kidney disease
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renal cysts and diabetes syndrome
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prefLabel
maturity-onset diabetes of the young type 5
@en
P31
P492
P699
DOID:0111101