Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8
Synonyms

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1
ID

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

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1

SULFONYLUREA RECEPTOR, BETA CELL HIGH AFFINITY

DIABETES MELLITUS, NONINSULIN-DEPENDENT

LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY

ABCC8

DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES

SUR

SUR1

DIABETES MELLITUS, TRANSIENT NEONATAL, 2

DIABETES MELLITUS, PERMANENT NEONATAL

SULFONYLUREA RECEPTOR
cui

C1833102

C0271714

C2931832

C0011860

C1412082

C1833104

C1835887
Gene Locus

11p15.1
Gene Symbol

HHF1

SUR

SUR1

PHHI

TNDM2

ABCC8
Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene with known sequence
notation

600509
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8
tui

T028

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10/E11 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/C563672 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP34966-9 Logical Observation Identifier Names and Codes CUI
http://purl.obolibrary.org/obo/PR_000003563 Protein Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C537150 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0011860 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MESH/C563425 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/ICD10CN/E11 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D044903 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D003924 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C563424 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/E11 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/LNC/LA10552-0 Logical Observation Identifier Names and Codes CUI