This HTML5 document contains 15 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n3	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n4	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

n4:DOID_0060796

rdf:type

owl:Class

rdfs:subClassOf

n4:DOID_0060786 _:vb50939412 n4:DOID_0050737

rdfs:label

hypomyelinating leukodystrophy 12

wdrs:describedby

n3:doid.owl

obo:id

DOID:0060796

obo:hasDbXref

OMIM:616683

obo:hasExactSynonym

HLD12

obo:hasOBONamespace

disease_ontology

n4:IAO_0000115

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.

Subject Item

_:vb50939412

rdf:type

owl:Restriction

owl:onProperty

n4:IDO_0000664

owl:someValuesFrom

n4:GENO_0000148

wdrs:describedby

n3:doid.owl