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Namespace Prefixes

PrefixIRI
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rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
_:vb50942169
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n4:ECO_0007636 n4:ECO_0007645
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n4:IAO_0000115
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A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.
obo:hasDbXref
url:https://www.omim.org/entry/615034 url:https://www.ncbi.nlm.nih.gov/pubmed/30455893