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Namespace Prefixes

PrefixIRI
n5https://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#
n8http://purl.obolibrary.org/obo/doid#
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_2219
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2218 _:vb50950619
rdfs:label
Glanzmann's thrombasthenia
rdfs:comment
OMIM mapping confirmed by DO. [LS].
wdrs:describedby
n5:doid.owl
obo:id
DOID:2219
obo:hasDbXref
MESH:D013915 SNOMEDCT_US_2021_09_01:32942005 ICD10CM:D69.1 UMLS_CUI:C0040015 ORDO:849 GARD:2478 OMIM:273800 NCI:C61249
obo:hasExactSynonym
platelet glycoprotein IIb-IIIa deficiency deficiency of platelet fibrinogen receptor deficiency of GP IIb-IIIa complex thrombasthenia of Glanzmann and Naegeli platelet-type bleeding disorder 2 Thrombocytasthenia Glycoprotein IIb/IIIa defect Glanzmann thrombasthenia deficiency of glycoprotein complex IIb-IIIa BDPLT2
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n2:IAO_0000115
A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
Subject Item
_:vb50950619
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004026
owl:someValuesFrom
n2:CL_0000233
wdrs:describedby
n5:doid.owl