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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_0111894
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_1339 _:vb50945688 n2:DOID_0050736
rdfs:label
Diamond Blackfan anemia 15 with mandibulofacial dysostosis
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111894
obo:hasDbXref
OMIM:606164
obo:hasExactSynonym
DBA15
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in RPS28 on chromosome 19p13.2.
Subject Item
_:vb50945688
rdf:type
owl:Restriction
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n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl