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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_0060375
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_4501 _:vb50938740 n2:DOID_0050737
rdfs:label
orofaciodigital syndrome V
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060375
obo:created_by
elvira
obo:creation_date
2015-09-18T15:00:19Z
obo:hasDbXref
SNOMEDCT_US_2021_09_01:722105002 ORDO:2919 OMIM:174300 MESH:C557819 UMLS_CUI:C1868118
obo:hasExactSynonym
polydactyly, postaxial, with median cleft of upper lip OFD5 orofaciodigital syndrome Thurston type
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_rare_slim
n2:IAO_0000115
An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
Subject Item
_:vb50938740
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl