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.

FULL_SYN

Hyperkalemic Periodic Paralysis

label

Hyperkalemic Periodic Paralysis

Preferred_Name

Hyperkalemic Periodic Paralysis

prefixIRI

Thesaurus:C123429

prefLabel

Hyperkalemic Periodic Paralysis

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0238357

subClassOf

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

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