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Namespace Prefixes

PrefixIRI
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n3http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
dchttp://purl.org/dc/elements/1.1/
obohttp://www.geneontology.org/formats/oboInOwl#
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
_:vb50939417
rdf:type
owl:Axiom
wdrs:describedby
n6:doid.owl
dc:type
n3:ECO_0007645
owl:annotatedProperty
n3:IAO_0000115
owl:annotatedSource
n3:DOID_0060798
owl:annotatedTarget
A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/23582646