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Mondo Disease 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016227 |
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| database_cross_reference |
icd11.foundation:423095680 OMIMPS:160120 Orphanet:211062 MEDGEN:314033 SCTID:421455009 UMLS:C1720189 DOID:963 GARD:20457
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|
| 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-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
hereditary episodic ataxia
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|
| notation |
MONDO:0016227
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|
| prefLabel |
hereditary episodic ataxia
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|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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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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