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Namespace Prefixes

PrefixIRI
n8https://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#
n6http://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_0111044
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2218 _:vb50944111 n2:DOID_0050737 _:vb50944112
rdfs:label
gray platelet syndrome
wdrs:describedby
n8:doid.owl
obo:id
DOID:0111044
obo:hasDbXref
SNOMEDCT_US_2021_09_01:51720005 ORDO:721 NCI:C84741 MESH:D055652 UMLS_CUI:C0272302 GARD:2562 OMIM:139090 ICD10CM:D69.1
obo:hasExactSynonym
GPS BDPLT4 platelet alpha-granule deficiency platelet-type bleeding disorder 4
obo:hasOBONamespace
disease_ontology
obo:inSubset
n6:NCIthesaurus
n2:IAO_0000115
A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
Subject Item
_:vb50944111
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n8:doid.owl
Subject Item
_:vb50944112
rdf:type
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owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000007
wdrs:describedby
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