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Cell Culture Ontology
| Preferred Name | hereditary episodic ataxia | |
| Synonyms |
ea syndrome episodic ataxia syndrome Isaacs syndrome episodic ataxia |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016227 |
|
| database_cross_reference |
Orphanet:211062 icd11.foundation:423095680 UMLS:C1720189 SCTID:421455009 MEDGEN:314033 OMIMPS:160120 DOID:963 GARD:20457
|
|
| definition |
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.
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|
| has_exact_synonym |
episodic ataxia
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|
| has_related_synonym |
ea syndrome episodic ataxia syndrome Isaacs syndrome
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|
| id |
MONDO:0016227
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
hereditary episodic ataxia
|
|
| notation |
MONDO:0016227
|
|
| preferred label |
hereditary episodic ataxia
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|
| prefLabel |
hereditary episodic ataxia
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|
| skos_exactMatch |
http://identifiers.org/medgen/314033 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/423095680 http://identifiers.org/snomedct/421455009 http://linkedlifedata.com/resource/umls/id/C1720189 http://purl.obolibrary.org/obo/Orphanet_211062 |
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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