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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_0112195
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_2256 _:vb50946264 n3:DOID_0050736
rdfs:label
spondyloperipheral dysplasia
wdrs:describedby
n7:doid.owl
obo:id
DOID:0112195
obo:hasDbXref
OMIM:271700 ORDO:1856
obo:hasExactSynonym
spondyloperipheral dysplasia-short ulna syndrome
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
Subject Item
_:vb50946264
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000147
wdrs:describedby
n7:doid.owl