paroxysmal nonkinesigenic dyskinesia 3 Disease Ontology Browser

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paroxysmal nonkinesigenic dyskinesia 3 (DOID:0070442)
Alliance: disease page
Synonyms: generalized epilepsy and paroxysmal dyskinesia
Alt IDs: OMIM:609446, ORDO:79137
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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