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| Term | dentatorubral-pallidoluysian atrophy | ID (Ontology) | DOID:0060162 (Human Disease) | |||||||||||||||||||||||||||
| Definition | An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. | |||||||||||||||||||||||||||||
| Also Known As | "DRPLA" ; "Haw River Syndrome" ; "Naito-Oyanagi disease" | |||||||||||||||||||||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal dominant disease__ cerebellar ataxia___________| autosomal dominant cerebellar ataxia |__dentatorubral-pallidoluysian atrophy 23 rec. |
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| Is a | autosomal dominant cerebellar ataxia | ||
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External Crossreferences & Linkouts
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GARD:5643 MESH:D020191 MIM:125370 NCI:C122653 SNOMEDCT_US_2023_03_01:702422004 UMLS_CUI:C0751781 |
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