Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8
Synonyms

DIABETES MELLITUS, NONINSULIN-DEPENDENT

DIABETES MELLITUS, PERMANENT NEONATAL, 3, WITH NEUROLOGIC FEATURES

SULFONYLUREA RECEPTOR

DIABETES MELLITUS, TRANSIENT NEONATAL, 2

DIABETES MELLITUS, PERMANENT NEONATAL, 3

SUR1

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1

ABCC8

SUR

SULFONYLUREA RECEPTOR, BETA CELL HIGH AFFINITY

LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY
ID

http://purl.bioontology.org/ontology/OMIM/600509
altLabel

DIABETES MELLITUS, NONINSULIN-DEPENDENT

DIABETES MELLITUS, PERMANENT NEONATAL, 3, WITH NEUROLOGIC FEATURES

SULFONYLUREA RECEPTOR

DIABETES MELLITUS, TRANSIENT NEONATAL, 2

DIABETES MELLITUS, PERMANENT NEONATAL, 3

SUR1

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1

ABCC8

SUR

SULFONYLUREA RECEPTOR, BETA CELL HIGH AFFINITY

LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY
cui

C1412082

C5394566

C2931832

C0011860

C0271714

C1835887

C5394303
Gene Locus

11p15.1
Gene Symbol

HHF1

ABCC8

PHHI

SUR

SUR1

PNDM3

TNDM2
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600509.0015

http://purl.bioontology.org/ontology/OMIM/600509.0017

http://purl.bioontology.org/ontology/OMIM/600509.0010

http://purl.bioontology.org/ontology/OMIM/600509.0016

http://purl.bioontology.org/ontology/OMIM/600509.0012

http://purl.bioontology.org/ontology/OMIM/600509.0013

http://purl.bioontology.org/ontology/OMIM/600509.0018

http://purl.bioontology.org/ontology/OMIM/600509.0019

http://purl.bioontology.org/ontology/OMIM/600509.0011

http://purl.bioontology.org/ontology/OMIM/600509.0014

http://purl.bioontology.org/ontology/OMIM/600509.0020

http://purl.bioontology.org/ontology/OMIM/600509.0026

http://purl.bioontology.org/ontology/OMIM/600509.0024

http://purl.bioontology.org/ontology/OMIM/600509.0023

http://purl.bioontology.org/ontology/OMIM/600509.0021

http://purl.bioontology.org/ontology/OMIM/600509.0028

http://purl.bioontology.org/ontology/OMIM/600509.0022

http://purl.bioontology.org/ontology/OMIM/600509.0025

http://purl.bioontology.org/ontology/OMIM/600509.0027

http://purl.bioontology.org/ontology/OMIM/600509.0029

http://purl.bioontology.org/ontology/OMIM/600509.0001

http://purl.bioontology.org/ontology/OMIM/600509.0003

http://purl.bioontology.org/ontology/OMIM/600509.0008

http://purl.bioontology.org/ontology/OMIM/600509.0007

http://purl.bioontology.org/ontology/OMIM/600509.0006

http://purl.bioontology.org/ontology/OMIM/600509.0005

http://purl.bioontology.org/ontology/OMIM/600509.0009

http://purl.bioontology.org/ontology/OMIM/600509.0004

http://purl.bioontology.org/ontology/OMIM/600509.0002
MIMTYPEMEANING

Gene with known sequence
notation

600509
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP34966-9 LOINC CUI
http://purl.bioontology.org/ontology/MSHFRE/D044903 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62151007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/609580007 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D044903 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10067585 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/MDRGER/10029402 MDRGER 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/MDRGER/10029505 MDRGER 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/MDRGER/10012613 MDRGER 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/MDRGER/10012611 MDRGER 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/MDRGER/10026947 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10012613 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10045242 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10045242 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/E11 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/62151007 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C537150 MESH CUI
http://purl.bioontology.org/ontology/SNMI/DB-63274 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/609580007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C563672 MESH CUI
http://purl.obolibrary.org/obo/PR_000003563 PR LOOM
http://www.orpha.net/ORDO/Orphanet_117665 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C191885 NCIT LOOM