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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#
n8http://purl.obolibrary.org/obo/doid#
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_0060456
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 n2:DOID_0060442 _:vb50938877
rdfs:label
Schnyder corneal dystrophy
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060456
obo:created_by
elvira
obo:creation_date
2015-10-16T18:01:14Z
obo:hasDbXref
SNOMEDCT_US_2021_09_01:420212002 ORDO:98967 MESH:C535475 GARD:9277 OMIM:121800 UMLS_CUI:C0271287
obo:hasExactSynonym
SCCD crystalline stromal dystrophy Schnyder crystalline corneal dystrophy hereditary crystalline stromal dystrophy of Schnyder corneal dystrophy crystalline of Schnyder
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_rare_slim
n2:IAO_0000115
A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.
Subject Item
_:vb50938877
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl