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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0050679
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0080012 _:vb50937379 n3:DOID_13911
rdfs:label
blue cone monochromacy
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n7:doid.owl
obo:id
DOID:0050679
obo:hasDbXref
OMIM:303700 GARD:917
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
Subject Item
_:vb50937379
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000149
wdrs:describedby
n7:doid.owl