Search Ontology:
Human Disease
paroxysmal nonkinesigenic dyskinesia 3
- Term ID
- DOID:0070442
- Synonyms
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- generalized epilepsy and paroxysmal dyskinesia
- Definition
- A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. (2)
- References
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- MIM:609446
- ORDO:79137
- Ontology
- Human Disease ( DOID:0070442 )
- is a type of
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Genes Involved
Zebrafish Models