Preferred Name

familial periodic paralysis

Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_1029

database_cross_reference

ICD10CM:G72.3

MESH:D010245

SNOMEDCT_US_2023_03_01:193241004

UMLS_CUI:C0030443

GARD:6422

NCI:C84709

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.

has_obo_namespace

disease_ontology

id

DOID:1029

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

familial periodic paralysis

notation

DOID:1029

prefLabel

familial periodic paralysis

subClassOf

http://purl.obolibrary.org/obo/DOID_896

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