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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_0110339
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 _:vb50942913 n2:DOID_12347
rdfs:label
osteogenesis imperfecta type 3
wdrs:describedby
n7:doid.owl
obo:id
DOID:0110339
obo:hasDbXref
OMIM:259420 ICD10CM:Q78.0 GARD:8695
obo:hasExactSynonym
osteogenesis imperfecta type III OI3 progressively deforming osteogenesis imperfecta with normal sclera
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
Subject Item
_:vb50942913
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl