Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

CHLORIDE CHANNEL 1, SKELETAL MUSCLE
Synonyms

MYOTONIA LEVIOR

CLC1

CLCN1

CHLORIDE CHANNEL, MUSCLE

MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
ID

http://purl.bioontology.org/ontology/OMIM/118425
altLabel

MYOTONIA LEVIOR

CLC1

CLCN1

CHLORIDE CHANNEL, MUSCLE

MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
cui

C0270959

C1413450

C2936781

C0751360
Gene Locus

7q35
Gene Symbol

CLCN1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/118425.0021

http://purl.bioontology.org/ontology/OMIM/118425.0022

http://purl.bioontology.org/ontology/OMIM/118425.0020

http://purl.bioontology.org/ontology/OMIM/118425.0001

http://purl.bioontology.org/ontology/OMIM/118425.0008

http://purl.bioontology.org/ontology/OMIM/118425.0006

http://purl.bioontology.org/ontology/OMIM/118425.0005

http://purl.bioontology.org/ontology/OMIM/118425.0009

http://purl.bioontology.org/ontology/OMIM/118425.0002

http://purl.bioontology.org/ontology/OMIM/118425.0003

http://purl.bioontology.org/ontology/OMIM/118425.0004

http://purl.bioontology.org/ontology/OMIM/118425.0007

http://purl.bioontology.org/ontology/OMIM/118425.0016

http://purl.bioontology.org/ontology/OMIM/118425.0010

http://purl.bioontology.org/ontology/OMIM/118425.0015

http://purl.bioontology.org/ontology/OMIM/118425.0017

http://purl.bioontology.org/ontology/OMIM/118425.0011

http://purl.bioontology.org/ontology/OMIM/118425.0012

http://purl.bioontology.org/ontology/OMIM/118425.0013

http://purl.bioontology.org/ontology/OMIM/118425.0014

http://purl.bioontology.org/ontology/OMIM/118425.0018

http://purl.bioontology.org/ontology/OMIM/118425.0019
MIMTYPEMEANING

Gene with known sequence
notation

118425
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

CHLORIDE CHANNEL 1, SKELETAL MUSCLE
tui

T047

T028
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G71.12 ICD10CM CUI
http://purl.bioontology.org/ontology/LNC/LP62803-9 LOINC CUI
http://purl.bioontology.org/ontology/SNMI/DA-51320 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D009224 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D009224 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/8960007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8960007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/DA-51344 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10043461 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D009224 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/57938005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/F3921 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.12 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/1849-6776 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/726051002 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/57938005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D009224 MESH CUI
http://purl.bioontology.org/ontology/SNMI/DA-51322 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10043461 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/726051002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10043461 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/20305008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X709c RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.12 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/DA-51324 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D009224 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/20305008 SCTSPA CUI