Visualize Submit Comment
Metadata
ID DOID:1029
Name familial periodic paralysis
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.
https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html, https://www.ninds.nih.gov/Disorders/All-Disorders/Familial-Periodic-Paralyses-Information-Page
Xrefs

GARD:6422

ICD10CM:G72.3

MESH:D010245

NCI:C84709

SNOMEDCT_US_2023_03_01:193241004

UMLS_CUI:C0030443

Subsets

DO_rare_slim

NCIthesaurus

Parent Relationships

is_a metal metabolism disorder

Add an item to the term tracker