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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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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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| created_by |
lschriml
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| creation_date |
2015-10-06T16:26:26Z
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| database_cross_reference |
OMIM:108500
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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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| has_obo_namespace |
disease_ontology
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| IAO_0000115 |
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 |
DOID:0050990
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| label |
episodic ataxia type 2
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|
| notation |
DOID:0050990
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| note |
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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| prefLabel |
episodic ataxia type 2
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| subClassOf |
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