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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0111242
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0111229 _:vb50944463
rdfs:label
congenital muscular dystrophy-dystroglycanopathy type A6
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111242
obo:hasDbXref
OMIM:613154
obo:hasExactSynonym
MDDGA6 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
Subject Item
_:vb50944463
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0004019
owl:someValuesFrom
n3:HP_0001197
wdrs:describedby
n7:doid.owl