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Summary Literature (6)
DOID:1029 - familial periodic paralysis


Disease Ontology Definition:A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.

Synonyms:

Xenbase Genes : scn4a, cacna1s, kcne3, atp1a2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000995 - familial periodic paralysis


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): metal metabolism disorder (is_a)