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Namespace Prefixes

PrefixIRI
n7https://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_0060787
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060786 _:vb50939394 n2:DOID_0050737
rdfs:label
hypomyelinating leukodystrophy 2
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060787
obo:hasDbXref
ORDO:280282 ICD10CM:E75.2 OMIM:608804
obo:hasExactSynonym
Pelizaeus-Merzbacher-like disease 1 PMLD1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation HLD2
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.
Subject Item
_:vb50939394
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl