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Namespace Prefixes

Prefix	IRI
n7	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_0080315

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_10579

rdfs:label

megalencephalic leukoencephalopathy with subcortical cysts

wdrs:describedby

n7:doid.owl

obo:id

DOID:0080315

obo:hasDbXref

UMLS_CUI:C1858854 MESH:C536141 SNOMEDCT_US_2021_09_01:703536004 ORDO:2478 OMIM:PS604004 GARD:3445

obo:hasExactSynonym

megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome vacuolating megalencephalic leukoencephalopathy with subcortical cysts

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

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.