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Namespace Prefixes

Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_0050554

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_8955 n2:DOID_0080012 _:vb50937102

rdfs:label

X-linked sideroblastic anemia with ataxia

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n6:doid.owl

obo:id

DOID:0050554

obo:hasAlternativeId

DOID:0060064

obo:hasDbXref

OMIM:301310

obo:hasExactSynonym

Anemia sideroblastic and spinocerebellar ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anemia and ataxia

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.

Subject Item

_:vb50937102

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000149

wdrs:describedby

n6:doid.owl