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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

Potassium Aggravated Myotonia

PAM
label

Potassium Aggravated Myotonia
Preferred_Name

Potassium Aggravated Myotonia
prefixIRI

Thesaurus: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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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018959 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0018959 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C538353 Medical Subject Headings / 医学主题词表 LOOM
http://www.orpha.net/ORDO/Orphanet_612 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM