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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_0060794
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060786 _:vb50939408 n2:DOID_0050737
rdfs:label
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060794
obo:hasDbXref
ORDO:447893 ICD10CM:G11.1 ORDO:137639 ORDO:447896 OMIM:607694 ORDO:77295
obo:hasExactSynonym
leukodystrophy with oligodontia tremor-ataxia-central hypomyelination syndrome hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome TACH syndrome dentoleukoencephalopathy HLD7 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Subject Item
_:vb50939408
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl