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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_0111805
rdf:type
owl:Class
rdfs:subClassOf
_:vb50945506 n2:DOID_0080636 n2:DOID_0050736
rdfs:label
syndromic microphthalmia 6
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111805
obo:hasDbXref
ORDO:139471 GARD:3645 OMIM:607932 UMLS_CUI:C1864689 MESH:C566440
obo:hasExactSynonym
microphthalmia with brain and digit anomalies MCOPS6 syndromic microphthalmia type 6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies Bakrania-Ragge syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2.
Subject Item
_:vb50945506
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl