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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
_:vb50940312
rdf:type
owl:Axiom
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n3:IAO_0000115
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n3:DOID_0080059
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An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
obo:hasDbXref
url:https://ghr.nlm.nih.gov/gene/TPP1 url:https://www.ncbi.nlm.nih.gov/pubmed/26224725