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Namespace Prefixes

Prefix	IRI
n5	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_0070343

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_2367

rdfs:label

CSF1R-related brain malformation and osteopetrosis

wdrs:describedby

n5:doid.owl

obo:id

DOID:0070343

obo:hasDbXref

OMIM:600329

obo:hasExactSynonym

osteoporosis and infantile neuroaxonal dystrophy

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A neuroaxonal dystrophy that has_material_basis in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.