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familial periodic paralysis

^ http://purl.obolibrary.org/obo/MONDO_0000995

A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It 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. [ NCIT:C84709 ]

Term info

database cross reference
  • NCIT:C84709 (MONDO:equivalentTo)
  • Orphanet:371433 (MONDO:equivalentTo)
  • DOID:1029 (MONDO:equivalentTo)
  • MESH:D010245 (MONDO:equivalentTo)
  • SCTID:267607008 (MONDO:equivalentTo)
  • GARD:0006422 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

definition

A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It 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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_371433, http://purl.obolibrary.org/obo/DOID_1029, http://identifiers.org/mesh/D010245, http://identifiers.org/snomedct/267607008, http://purl.obolibrary.org/obo/NCIT_C84709

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0003939

has exact synonym

familial periodic paralysis, hereditary periodic paralysis (disease)

has related synonym

familial periodic paralyses, paralysis, familial periodic, periodic paralysis, familial, normokalemic periodic paralysis, paralysis, normokalemic periodic, periodic paralysis, normokalemic, periodic paralyses, familial, paralyses, normokalemic periodic, periodic paralyses, normokalemic, genetic periodic paralysis, normokalemic periodic paralyses

id

MONDO:0000995

seeAlso

https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis