This HTML5 document contains 16 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	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

n2:DOID_0060797

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050737 n2:DOID_0060786 _:vb50939414

rdfs:label

hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

wdrs:describedby

n7:doid.owl

obo:id

DOID:0060797

obo:hasDbXref

OMIM:614381 ICD10CM:G11.1

obo:hasExactSynonym

HLD8

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.

Subject Item

_:vb50939414

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n7:doid.owl