Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

HNF1 HOMEOBOX B

Synonyms

TRANSCRIPTION FACTOR 2

ID

http://purl.bioontology.org/ontology/OMIM/189907

altLabel

TRANSCRIPTION FACTOR 2

TRANSCRIPTION FACTOR, LIVER-SPECIFIC, 3

HNF1B

RENAL CYSTS AND DIABETES SYNDROME

HEPATOCYTE NUCLEAR FACTOR 2

HEPATOCYTE NUCLEAR FACTOR-1-BETA

TCF2

TYPE 2 DIABETES MELLITUS

RENAL CELL CARCINOMA, CHROMOPHOBE

HNF2

HEPATIC NUCLEAR FACTOR-1-BETA

cui

C0431693

C1266042

C0011860

C1420636

Gene Locus

17q12

Gene Symbol

RCAD

ADTKD3

TCF2

T2D

HNF2

HNF1B

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/189907.0011

http://purl.bioontology.org/ontology/OMIM/189907.0015

http://purl.bioontology.org/ontology/OMIM/189907.0013

http://purl.bioontology.org/ontology/OMIM/189907.0010

http://purl.bioontology.org/ontology/OMIM/189907.0014

http://purl.bioontology.org/ontology/OMIM/189907.0007

http://purl.bioontology.org/ontology/OMIM/189907.0005

http://purl.bioontology.org/ontology/OMIM/189907.0006

http://purl.bioontology.org/ontology/OMIM/189907.0008

http://purl.bioontology.org/ontology/OMIM/189907.0004

http://purl.bioontology.org/ontology/OMIM/189907.0003

http://purl.bioontology.org/ontology/OMIM/189907.0002

http://purl.bioontology.org/ontology/OMIM/189907.0009

http://purl.bioontology.org/ontology/OMIM/189907.0001

MIMTYPEMEANING

Gene with known sequence

notation

189907

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

HNF1 HOMEOBOX B

tui

T047

T191

T028

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/253864004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10080544 MDRGER CUI
http://purl.bioontology.org/ontology/LNC/LP185370-6 LOINC 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.bioontology.org/ontology/MDRFRE/10080544 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D002292 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10080544 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/128667008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/128667008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000777276 PDQ CUI
http://purl.bioontology.org/ontology/SCTSPA/733471003 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D002292 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/733471003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10067585 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10012613 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10012611 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10029402 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10029505 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10026947 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10045242 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D003924 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D003924 MSHFRE CUI
http://purl.bioontology.org/ontology/WHO/0371 WHO-ART CUI
http://purl.bioontology.org/ontology/WHOFRE/0371 WHOFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10012611 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10029402 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10029505 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10026947 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10029505 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10012613 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000954 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10029402 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0011860 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDDRA/10045242 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/T90009 ICPC2P CUI
http://purl.bioontology.org/ontology/SNMI/DB-61030 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10012611 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/E11 ICD10 CUI
http://purl.bioontology.org/ontology/ICPC2P/T90005 ICPC2P CUI
http://purl.bioontology.org/ontology/CSP/0862-7250 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/44054006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10067585 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA33713-1 LOINC CUI
http://purl.bioontology.org/ontology/ICPC2P/T90007 ICPC2P CUI
http://purl.bioontology.org/ontology/LNC/LA10552-0 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10067585 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X40J5 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/44054006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10026947 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10012613 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10045242 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E11 ICD10CM CUI
http://www.orpha.net/ORDO/Orphanet_158588 ORDO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_17228 HRDO LOOM