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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#
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_0112156
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0080012 _:vb50946199 n2:DOID_2355
rdfs:label
X-linked dyserythropoietic anemia
wdrs:describedby
n5:doid.owl
obo:id
DOID:0112156
obo:hasDbXref
OMIM:300835 ORDO:363727
obo:hasExactSynonym
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia X-linked anemia with/without neutropenia and/or platelet abnormalities
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.
Subject Item
_:vb50946199
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000149
wdrs:describedby
n5:doid.owl