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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_0060790
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 _:vb50939400 n2:DOID_0060786
rdfs:label
hypomyelinating leukodystrophy 3
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060790
obo:hasDbXref
ICD10CM:E75.2 ORDO:280293 OMIM:260600
obo:hasExactSynonym
HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.
Subject Item
_:vb50939400
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl