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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_0060785
rdf:type
owl:Class
rdfs:subClassOf
_:vb50939390 _:vb50939391 n2:DOID_0050736 n2:DOID_10579
rdfs:label
adult-onset autosomal dominant demyelinating leukodystrophy
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060785
obo:hasDbXref
SNOMEDCT_US_2021_09_01:448054001 UMLS_CUI:C3164344 ORDO:99027 GARD:10587 OMIM:169500
obo:hasExactSynonym
ADLD autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease adult-onset autosomal dominant leukodystrophy
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q.
Subject Item
_:vb50939390
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50939391
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002488
owl:someValuesFrom
n2:HP_0003581
wdrs:describedby
n7:doid.owl