National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Hyperkalemic Periodic Paralysis

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123429

code

C123429

DEFINITION

A rare, autosomal dominant inherited disorder caused by mutations in the SCN4A gene. It is characterized by occasional episodes of muscle weakness or paralysis which are usually accompanied by increased levels of potassium in the blood. In some cases, the episodes of paralysis are associated with normal blood potassium levels. Ingestion of potassium can trigger attacks in affected individuals.

label

Hyperkalemic Periodic Paralysis

Preferred_Name

Hyperkalemic Periodic Paralysis

prefixIRI

C123429

prefLabel

Hyperkalemic Periodic Paralysis

Semantic_Type

Disease or Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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http://purl.obolibrary.org/obo/DOID_14451 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/170500 Online Mendelian Inheritance in Man LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8C74.11 International Classification of Diseases, 11th Edition, China LOOM