This HTML5 document contains 18 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n5	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_0060793

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050737 _:vb50939406 n2:DOID_0060786

rdfs:label

hypomyelinating leukodystrophy 5

wdrs:describedby

n5:doid.owl

obo:id

DOID:0060793

obo:hasDbXref

ORDO:85163 ICD10CM:G37.8 OMIM:610532

obo:hasExactSynonym

HLD5 hypomyelination-congenital cataract syndrome

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.

Subject Item

_:vb50939406

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n5:doid.owl