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Namespace Prefixes

PrefixIRI
n8https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
n6http://purl.obolibrary.org/obo/doid#
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
n2:DOID_0060265
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0112322 n2:DOID_0050737 _:vb50938563
rdfs:label
pontocerebellar hypoplasia type 1A
rdfs:comment
NT MGI.
wdrs:describedby
n8:doid.owl
obo:id
DOID:0060265
obo:created_by
emitraka
obo:creation_date
2015-02-04T14:28:28Z
obo:hasDbXref
OMIM:607596 ORDO:2254
obo:hasOBONamespace
disease_ontology
obo:inSubset
n6:DO_rare_slim
n2:IAO_0000115
A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.
Subject Item
_:vb50938563
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n8:doid.owl