SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n7 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
dc http://purl.org/dc/elements/1.1/
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 _:vb50940738
rdf:type
owl:Axiom
wdrs:describedby
n7:doid.owl
dc:type
n3:ECO_0007637
owl:annotatedProperty
n3:IAO_0000115
owl:annotatedSource
n3:DOID_0080315
owl:annotatedTarget
A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.
obo:hasDbXref
url:https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts