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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_0111803
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050739 _:vb50945503 n2:DOID_0080636
rdfs:label
syndromic microphthalmia 8
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111803
obo:hasDbXref
MESH:C537686 GARD:3693 UMLS_CUI:C1832440 OMIM:601349 ORDO:3434
obo:hasExactSynonym
microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome Viljoen-Smart syndrome MCOPS8 syndromic microphthalmia type 8 MMEP syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.
Subject Item
_:vb50945503
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000934
wdrs:describedby
n7:doid.owl