Preferred Name |
paroxysmal nonkinesigenic dyskinesia 1 |
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Synonyms |
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Definitions |
A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. |
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ID |
http://purl.obolibrary.org/obo/DOID_0090049 |
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database_cross_reference |
OMIM:118800 ICD10CM:G24.8 ORDO:98810 |
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has disease driver | ||
has material basis in | ||
has_obo_namespace |
disease_ontology |
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id |
DOID:0090049 |
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in_subset | ||
label |
paroxysmal nonkinesigenic dyskinesia 1 |
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notation |
DOID:0090049 |
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prefLabel |
paroxysmal nonkinesigenic dyskinesia 1 |
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textual definition |
A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. |
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subClassOf |