loading...| 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 |
ICD10CM:G24.8 MIM:118800 ORDO:98810 |
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| 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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| 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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| subClassOf |