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Cell Culture Ontology
| Preferred Name | episodic ataxia type 2 | |
| Synonyms |
Nystagmus-associated episodic ataxia ataxia, familial paroxysmal Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia Cerebellopathy, hereditary paroxysmal episodic ataxia, type 2 ataxia, familial, paroxysmal cerebellar ataxia, paroxysmal, Acetazolamide-responsive episodic ataxia, Nystagmus-associated familial paroxysmal ataxia Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia Acetazolamide-responsive episodic ataxia syndrome episodic ataxia with nystagmus ataxia, episodic, with Nystagmus APCA CAPA EA2 hereditary episodic ataxia caused by mutation in CACNA1A CACNA1A hereditary episodic ataxia 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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| database_cross_reference |
SCTID:420932006 MESH:C535506 UMLS:C1720416 Orphanet:97 DOID:0050990 OMIM:108500 MEDGEN:314039 GARD:9602
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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 |
hereditary episodic ataxia caused by mutation in CACNA1A CACNA1A hereditary episodic ataxia episodic ataxia type 2
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| has_related_synonym |
Nystagmus-associated episodic ataxia ataxia, familial paroxysmal Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia Cerebellopathy, hereditary paroxysmal episodic ataxia, type 2 ataxia, familial, paroxysmal cerebellar ataxia, paroxysmal, Acetazolamide-responsive episodic ataxia, Nystagmus-associated familial paroxysmal ataxia Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia Acetazolamide-responsive episodic ataxia syndrome episodic ataxia with nystagmus ataxia, episodic, with Nystagmus APCA CAPA EA2
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| IAO_0000233 | ||
| id |
MONDO:0007163
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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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
episodic ataxia type 2
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| notation |
MONDO:0007163
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| preferred label |
episodic ataxia type 2
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| prefLabel |
episodic ataxia type 2
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| skos_exactMatch |
http://identifiers.org/medgen/314039 http://purl.obolibrary.org/obo/Orphanet_97 http://purl.obolibrary.org/obo/DOID_0050990 http://identifiers.org/snomedct/420932006 |
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| subClassOf |
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