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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | episodic ataxia type 2 | |
| Synonyms |
Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia ataxia, familial, paroxysmal Nystagmus-associated episodic ataxia ataxia, episodic, with Nystagmus Cerebellopathy, hereditary paroxysmal CAPA episodic ataxia with nystagmus Acetazolamide-responsive episodic ataxia syndrome episodic ataxia, type 2 EA2 Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia APCA cerebellar ataxia, paroxysmal, Acetazolamide-responsive ataxia, familial paroxysmal episodic ataxia, Nystagmus-associated familial paroxysmal ataxia CACNA1A hereditary episodic ataxia hereditary episodic ataxia caused by mutation in CACNA1A episodic ataxia type 2 |
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| Definitions |
Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007163 |
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| altLabel |
Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia ataxia, familial, paroxysmal Nystagmus-associated episodic ataxia ataxia, episodic, with Nystagmus Cerebellopathy, hereditary paroxysmal CAPA episodic ataxia with nystagmus Acetazolamide-responsive episodic ataxia syndrome episodic ataxia, type 2 EA2 Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia APCA cerebellar ataxia, paroxysmal, Acetazolamide-responsive ataxia, familial paroxysmal episodic ataxia, Nystagmus-associated familial paroxysmal ataxia CACNA1A hereditary episodic ataxia hereditary episodic ataxia caused by mutation in CACNA1A episodic ataxia type 2
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|
| definition |
Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
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| has_exact_synonym |
CACNA1A hereditary episodic ataxia hereditary episodic ataxia caused by mutation in CACNA1A episodic ataxia type 2
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| has_related_synonym |
Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia ataxia, familial, paroxysmal Nystagmus-associated episodic ataxia ataxia, episodic, with Nystagmus Cerebellopathy, hereditary paroxysmal CAPA episodic ataxia with nystagmus Acetazolamide-responsive episodic ataxia syndrome episodic ataxia, type 2 EA2 Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia APCA cerebellar ataxia, paroxysmal, Acetazolamide-responsive ataxia, familial paroxysmal episodic ataxia, Nystagmus-associated familial paroxysmal ataxia
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| IAO_0000233 | ||
| label |
episodic ataxia type 2
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| prefixIRI |
MONDO:0007163
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| prefLabel |
episodic ataxia type 2
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| textual definition |
Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100500 |
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