Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

Synonyms

MYOTONIA LEVIOR

ID

http://purl.bioontology.org/ontology/OMIM/160800

altLabel

MYOTONIA LEVIOR

THOMSEN DISEASE

THD

cui

C0270959

C2936781

Gene Locus

7q35

Gene Symbol

CLCN1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004173

http://purl.bioontology.org/ontology/OMIM/MTHU016903

http://purl.bioontology.org/ontology/OMIM/MTHU010827

http://purl.bioontology.org/ontology/OMIM/MTHU026510

http://purl.bioontology.org/ontology/OMIM/MTHU016905

http://purl.bioontology.org/ontology/OMIM/MTHU010825

http://purl.bioontology.org/ontology/OMIM/MTHU010834

http://purl.bioontology.org/ontology/OMIM/MTHU025982

http://purl.bioontology.org/ontology/OMIM/MTHU010832

http://purl.bioontology.org/ontology/OMIM/MTHU025980

http://purl.bioontology.org/ontology/OMIM/MTHU025986

http://purl.bioontology.org/ontology/OMIM/MTHU010830

http://purl.bioontology.org/ontology/OMIM/MTHU016378

http://purl.bioontology.org/ontology/OMIM/MTHU027267

http://purl.bioontology.org/ontology/OMIM/MTHU010824

http://purl.bioontology.org/ontology/OMIM/MTHU026511

http://purl.bioontology.org/ontology/OMIM/MTHU025981

http://purl.bioontology.org/ontology/OMIM/MTHU025985

http://purl.bioontology.org/ontology/OMIM/MTHU010823

http://purl.bioontology.org/ontology/OMIM/MTHU010826

http://purl.bioontology.org/ontology/OMIM/MTHU010833

http://purl.bioontology.org/ontology/OMIM/MTHU027266

http://purl.bioontology.org/ontology/OMIM/MTHU026512

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

160800

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

tui

T047

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http://purl.bioontology.org/ontology/MESH/D009224 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D009224 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.12 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.12 International Classification of Diseases, Version 10 - Clinical Modification CUI