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Namespace Prefixes

PrefixIRI
n8https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
skoshttp://www.w3.org/2004/02/skos/core#
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_0111799
rdf:type
owl:Class
rdfs:subClassOf
_:vb50945495 n2:DOID_0050735 n2:DOID_0080636
rdfs:label
syndromic microphthalmia 1
rdfs:comment
In OMIM, A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by omim, merged into type 1[LS]
skos:exactMatch
MESH:C564457 MESH:C537464
wdrs:describedby
n8:doid.owl
obo:id
DOID:0111799
obo:hasAlternativeId
DOID:0111810
obo:hasBroadSynonym
syndromic microphthalmia 4
obo:hasDbXref
ORDO:568 ORDO:85275 UMLS_CUI:C1844948 MESH:C564457 GARD:5066 OMIM:309800 GARD:87
obo:hasExactSynonym
Lenz dysplasia MCOPS1 Lenz microphthalmia Lenz type microphthalmia
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28.
Subject Item
_:vb50945495
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000936
wdrs:describedby
n8:doid.owl