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Namespace Prefixes

PrefixIRI
n6https://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_0060798
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 n2:DOID_0060786 _:vb50939416
rdfs:label
hypomyelinating leukodystrophy 6
wdrs:describedby
n6:doid.owl
obo:id
DOID:0060798
obo:hasDbXref
ICD10CM:E75.2 OMIM:612438 ORDO:139441
obo:hasExactSynonym
hypomyelination with atrophy of basal ganglia and cerebellum hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum HLD6 HABC H-ABC
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.
Subject Item
_:vb50939416
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n6:doid.owl