National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Potassium Aggravated Myotonia
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122788
code

C122788
DEFINITION

A group of autosomal dominant inherited non-dystrophic myotonias caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. They are characterized by muscle stiffness, which worsens by ingestion of potassium-rich food. This group includes myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.
FULL_SYN

PAM
label

Potassium Aggravated Myotonia
Preferred_Name

Potassium Aggravated Myotonia
prefixIRI

C122788
prefLabel

Potassium Aggravated Myotonia
Semantic_Type

Disease or Syndrome
UMLS_CUI

C2931826
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122787
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http://purl.bioontology.org/ontology/MESH/C538353 Medical Subject Headings LOOM