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Preferred Name

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR
Synonyms

SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
ID

http://purl.bioontology.org/ontology/OMIM/602421
altLabel

SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS

VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF

CFTR POLYMORPHISM

CFTR

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF

ABCC7

HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO

PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO

ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 7

CYSTIC FIBROSIS
cui

C1413365

C4017631

C4016792

C1865553

C4016790

C1865433

C0010674

C4016791
Gene Locus

7q31.2
Gene Symbol

MRP7

CFTR

ABCC7

CF
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602421.0119

http://purl.bioontology.org/ontology/OMIM/602421.0039

http://purl.bioontology.org/ontology/OMIM/602421.0126

http://purl.bioontology.org/ontology/OMIM/602421.0080

http://purl.bioontology.org/ontology/OMIM/602421.0061

http://purl.bioontology.org/ontology/OMIM/602421.0060

http://purl.bioontology.org/ontology/OMIM/602421.0041

http://purl.bioontology.org/ontology/OMIM/602421.0043

http://purl.bioontology.org/ontology/OMIM/602421.0073

http://purl.bioontology.org/ontology/OMIM/602421.0134

http://purl.bioontology.org/ontology/OMIM/602421.0001

http://purl.bioontology.org/ontology/OMIM/602421.0003

http://purl.bioontology.org/ontology/OMIM/602421.0063

http://purl.bioontology.org/ontology/OMIM/602421.0042

http://purl.bioontology.org/ontology/OMIM/602421.0094

http://purl.bioontology.org/ontology/OMIM/602421.0093

http://purl.bioontology.org/ontology/OMIM/602421.0074

http://purl.bioontology.org/ontology/OMIM/602421.0130

http://purl.bioontology.org/ontology/OMIM/602421.0054

http://purl.bioontology.org/ontology/OMIM/602421.0030

http://purl.bioontology.org/ontology/OMIM/602421.0010

http://purl.bioontology.org/ontology/OMIM/602421.0123

http://purl.bioontology.org/ontology/OMIM/602421.0055

http://purl.bioontology.org/ontology/OMIM/602421.0121

http://purl.bioontology.org/ontology/OMIM/602421.0014

http://purl.bioontology.org/ontology/OMIM/602421.0027

http://purl.bioontology.org/ontology/OMIM/602421.0103

http://purl.bioontology.org/ontology/OMIM/602421.0087

http://purl.bioontology.org/ontology/OMIM/602421.0067

http://purl.bioontology.org/ontology/OMIM/602421.0082

http://purl.bioontology.org/ontology/OMIM/602421.0062

http://purl.bioontology.org/ontology/OMIM/602421.0081

http://purl.bioontology.org/ontology/OMIM/602421.0047

http://purl.bioontology.org/ontology/OMIM/602421.0002

http://purl.bioontology.org/ontology/OMIM/602421.0023

http://purl.bioontology.org/ontology/OMIM/602421.0021

http://purl.bioontology.org/ontology/OMIM/602421.0008

http://purl.bioontology.org/ontology/OMIM/602421.0049

http://purl.bioontology.org/ontology/OMIM/602421.0068

http://purl.bioontology.org/ontology/OMIM/602421.0048

http://purl.bioontology.org/ontology/OMIM/602421.0022

http://purl.bioontology.org/ontology/OMIM/602421.0035

http://purl.bioontology.org/ontology/OMIM/602421.0095

http://purl.bioontology.org/ontology/OMIM/602421.0135

http://purl.bioontology.org/ontology/OMIM/602421.0004

http://purl.bioontology.org/ontology/OMIM/602421.0110

http://purl.bioontology.org/ontology/OMIM/602421.0015

http://purl.bioontology.org/ontology/OMIM/602421.0034

http://purl.bioontology.org/ontology/OMIM/602421.0075

http://purl.bioontology.org/ontology/OMIM/602421.0136

http://purl.bioontology.org/ontology/OMIM/602421.0036

http://purl.bioontology.org/ontology/OMIM/602421.0016

http://purl.bioontology.org/ontology/OMIM/602421.0076

http://purl.bioontology.org/ontology/OMIM/602421.0017

http://purl.bioontology.org/ontology/OMIM/602421.0122

http://purl.bioontology.org/ontology/OMIM/602421.0056

http://purl.bioontology.org/ontology/OMIM/602421.0104

http://purl.bioontology.org/ontology/OMIM/602421.0102

http://purl.bioontology.org/ontology/OMIM/602421.0028

http://purl.bioontology.org/ontology/OMIM/602421.0088

http://purl.bioontology.org/ontology/OMIM/602421.0086

http://purl.bioontology.org/ontology/OMIM/602421.0108

http://purl.bioontology.org/ontology/OMIM/602421.0089

http://purl.bioontology.org/ontology/OMIM/602421.0029

http://purl.bioontology.org/ontology/OMIM/602421.0009

http://purl.bioontology.org/ontology/OMIM/602421.0069

http://purl.bioontology.org/ontology/OMIM/602421.0099

http://purl.bioontology.org/ontology/OMIM/602421.0117

http://purl.bioontology.org/ontology/OMIM/602421.0115

http://purl.bioontology.org/ontology/OMIM/602421.0116

http://purl.bioontology.org/ontology/OMIM/602421.0109

http://purl.bioontology.org/ontology/OMIM/602421.0128

http://purl.bioontology.org/ontology/OMIM/602421.0070

http://purl.bioontology.org/ontology/OMIM/602421.0050

http://purl.bioontology.org/ontology/OMIM/602421.0083

http://purl.bioontology.org/ontology/OMIM/602421.0040

http://purl.bioontology.org/ontology/OMIM/602421.0090

http://purl.bioontology.org/ontology/OMIM/602421.0020

http://purl.bioontology.org/ontology/OMIM/602421.0044

http://purl.bioontology.org/ontology/OMIM/602421.0091

http://purl.bioontology.org/ontology/OMIM/602421.0133

http://purl.bioontology.org/ontology/OMIM/602421.0131

http://purl.bioontology.org/ontology/OMIM/602421.0057

http://purl.bioontology.org/ontology/OMIM/602421.0031

http://purl.bioontology.org/ontology/OMIM/602421.0011

http://purl.bioontology.org/ontology/OMIM/602421.0013

http://purl.bioontology.org/ontology/OMIM/602421.0071

http://purl.bioontology.org/ontology/OMIM/602421.0053

http://purl.bioontology.org/ontology/OMIM/602421.0051

http://purl.bioontology.org/ontology/OMIM/602421.0033

http://purl.bioontology.org/ontology/OMIM/602421.0012

http://purl.bioontology.org/ontology/OMIM/602421.0072

http://purl.bioontology.org/ontology/OMIM/602421.0120

http://purl.bioontology.org/ontology/OMIM/602421.0052

http://purl.bioontology.org/ontology/OMIM/602421.0084

http://purl.bioontology.org/ontology/OMIM/602421.0065

http://purl.bioontology.org/ontology/OMIM/602421.0100

http://purl.bioontology.org/ontology/OMIM/602421.0024

http://purl.bioontology.org/ontology/OMIM/602421.0064

http://purl.bioontology.org/ontology/OMIM/602421.0045

http://purl.bioontology.org/ontology/OMIM/602421.0101

http://purl.bioontology.org/ontology/OMIM/602421.0025

http://purl.bioontology.org/ontology/OMIM/602421.0066

http://purl.bioontology.org/ontology/OMIM/602421.0085

http://purl.bioontology.org/ontology/OMIM/602421.0096

http://purl.bioontology.org/ontology/OMIM/602421.0098

http://purl.bioontology.org/ontology/OMIM/602421.0005

http://purl.bioontology.org/ontology/OMIM/602421.0007

http://purl.bioontology.org/ontology/OMIM/602421.0046

http://purl.bioontology.org/ontology/OMIM/602421.0137

http://purl.bioontology.org/ontology/OMIM/602421.0113

http://purl.bioontology.org/ontology/OMIM/602421.0111

http://purl.bioontology.org/ontology/OMIM/602421.0037

http://purl.bioontology.org/ontology/OMIM/602421.0097

http://purl.bioontology.org/ontology/OMIM/602421.0078

http://purl.bioontology.org/ontology/OMIM/602421.0058

http://purl.bioontology.org/ontology/OMIM/602421.0077

http://purl.bioontology.org/ontology/OMIM/602421.0132

http://purl.bioontology.org/ontology/OMIM/602421.0032

http://purl.bioontology.org/ontology/OMIM/602421.0092

http://purl.bioontology.org/ontology/OMIM/602421.0079

http://purl.bioontology.org/ontology/OMIM/602421.0138

http://purl.bioontology.org/ontology/OMIM/602421.0114

http://purl.bioontology.org/ontology/OMIM/602421.0112

http://purl.bioontology.org/ontology/OMIM/602421.0019

http://purl.bioontology.org/ontology/OMIM/602421.0038

http://purl.bioontology.org/ontology/OMIM/602421.0018

http://purl.bioontology.org/ontology/OMIM/602421.0059

http://purl.bioontology.org/ontology/OMIM/602421.0125

http://purl.bioontology.org/ontology/OMIM/602421.0124

http://purl.bioontology.org/ontology/OMIM/602421.0105

http://purl.bioontology.org/ontology/OMIM/602421.0107

http://purl.bioontology.org/ontology/OMIM/602421.0106

http://purl.bioontology.org/ontology/OMIM/602421.0127

http://purl.bioontology.org/ontology/OMIM/602421.0118

http://purl.bioontology.org/ontology/OMIM/602421.0026

http://purl.bioontology.org/ontology/OMIM/602421.0006
MIMTYPEMEANING

Gene with known sequence
notation

602421
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR
tui

T028

T033

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E84 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bmicc.cn/ontology/ICD10CN/E84.9 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/E84.9 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bmicc.cn/ontology/ICD10CN/E84 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/LNC/LP19684-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/D019005 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/LNC/LA22202-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/D003550 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/ICD10/E84 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C111927 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10/E84.9 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/LNC/MTHU021607 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.obolibrary.org/obo/PR_000001044 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000001044 Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) / 国家实验细胞资源共享服务平台(NICR)细胞系本体子集 LOOM
http://purl.obolibrary.org/obo/PR_000001044 Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体 LOOM
http://purl.obolibrary.org/obo/PR_000001044 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP56779-9 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI