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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Episodic Ataxia Type 2 | |
| Synonyms |
Episodic Ataxia Type 2 EA2 |
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| Definitions |
An autosomal dominant condition caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is characterized by paroxysms of vertigo, visual disturbance, dysarthria, and ataxia. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C202603 |
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| code |
C202603
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| Concept_In_Subset | ||
| DEFINITION |
An autosomal dominant condition caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is characterized by paroxysms of vertigo, visual disturbance, dysarthria, and ataxia.
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|
| FULL_SYN |
Episodic Ataxia Type 2 EA2
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|
| label |
Episodic Ataxia Type 2
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|
| Preferred_Name |
Episodic Ataxia Type 2
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| prefixIRI |
Thesaurus:C202603
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| Semantic_Type |
Disease or Syndrome
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| subClassOf |
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