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hereditary episodic ataxia

Go to external page http://purl.obolibrary.org/obo/MONDO_0016227

Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2. [ Orphanet:211062 ]

Synonyms: episodic ataxia

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:20457 (MONDO:GARD)
  • Orphanet:211062 (MONDO:equivalentTo)
  • icd11.foundation:423095680 (Orphanet:211062)
  • OMIMPS:160120 (https://orcid.org/0000-0002-6601-2165)
  • SCTID:421455009 (MONDO:equivalentTo)
  • MEDGEN:314033 (MONDO:equivalentTo)
  • UMLS:C1720189 (MONDO:equivalentTo)
  • DOID:963 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

exactMatch

http://www.orpha.net/ORDO/Orphanet_211062

http://linkedlifedata.com/resource/umls/id/C1720189

https://omim.org/phenotypicSeries/PS160120

http://identifiers.org/snomedct/421455009

http://identifiers.org/medgen/314033

http://purl.obolibrary.org/obo/DOID_963

has related synonym

ea syndrome

episodic ataxia syndrome

Isaacs syndrome

id

MONDO:0016227

Term relations

Subclass of: