This HTML5 document contains 24 embedded RDF statements represented using HTML+Microdata notation.

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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#
n8	http://purl.obolibrary.org/obo/doid#
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_0060844

rdf:type

owl:Class

rdfs:subClassOf

_:vb50939490 n2:DOID_0080012 n2:DOID_225

rdfs:label

Norrie disease

wdrs:describedby

n7:doid.owl

obo:id

DOID:0060844

obo:hasDbXref

NCI:C118634 UMLS_CUI:C0266526 MESH:C537849 GARD:7224 OMIM:310600 ORDO:649 SNOMEDCT_US_2021_09_01:15228007

obo:hasExactSynonym

Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.

Subject Item

_:vb50939490

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000149

wdrs:describedby

n7:doid.owl