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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | episodic ataxia type 2 | |
| Synonyms |
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| Definitions |
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050990 |
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| definition |
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
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| imported from | ||
| label |
episodic ataxia type 2
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| prefixIRI |
DOID:0050990
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| prefLabel |
episodic ataxia type 2
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