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Namespace Prefixes

PrefixIRI
n7https://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#
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_0111233
rdf:type
owl:Class
rdfs:subClassOf
_:vb50944445 n2:DOID_0111229
rdfs:label
congenital muscular dystrophy-dystroglycanopathy A14
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111233
obo:hasDbXref
OMIM:615350
obo:hasExactSynonym
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14 MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
Subject Item
_:vb50944445
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n7:doid.owl