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| Term | dystonia 27 | ID (Ontology) | DOID:0090050 (Human Disease) |
| Definition | A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. | ||
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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 genetic disease |__autosomal recessive disease__ dystonia | |__segmental dystonia___________| dystonia 27 |
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| Is a |
autosomal recessive disease segmental dystonia |
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ICD10CM:G24.1 MIM:616411 ORDO:464440 |
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