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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_0060599
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_225 n2:DOID_0080009 _:vb50939114
rdfs:label
Nance-Horan syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060599
obo:hasDbXref
OMIM:302350 UMLS_CUI:C0796085 GARD:7161 SNOMEDCT_US_2021_09_01:445257004 ORDO:627 MESH:C538336
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
Subject Item
_:vb50939114
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000146
wdrs:describedby
n7:doid.owl