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Namespace Prefixes

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Statements

Subject Item

_:vb50942147

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n4:doid.owl

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n5:ECO_0007646 n5:ECO_0007637 n5:ECO_0007636

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n5:IAO_0000115

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n5:DOID_0090043

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A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/books/NBK1508/ url:https://www.omim.org/entry/128230 url:https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia