National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Normokalemic Periodic Paralysis
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122791
code	C122791
DEFINITION	An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis. Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium.
FULL_SYN	NormoKPP
label	Normokalemic Periodic Paralysis
Preferred_Name	Normokalemic Periodic Paralysis
prefixIRI	C122791
prefLabel	Normokalemic Periodic Paralysis
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0268445
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122787

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/170600	Online Mendelian Inheritance in Man	LOOM