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Namespace Prefixes

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owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

_:vb50942150

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n7:doid.owl

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n3:ECO_0007645 n3:ECO_0007636 n3:ECO_0007646

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n3:IAO_0000115

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n3:DOID_0090044

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A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.

obo:hasDbXref

url:https://www.omim.org/entry/601042 url:https://www.ncbi.nlm.nih.gov/pubmed/30616884 url:https://www.ncbi.nlm.nih.gov/books/NBK1430/