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Namespace Prefixes

PrefixIRI
n6https://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#
n7http://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_14780
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_225 n2:DOID_0060564 _:vb50949775
rdfs:label
KBG syndrome
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n6:doid.owl
obo:id
DOID:14780
obo:hasDbXref
SNOMEDCT_US_2021_09_01:711156009 UMLS_CUI:C0220687 GARD:82 ORDO:2332 MESH:C537015 OMIM:148050
obo:hasOBONamespace
disease_ontology
obo:inSubset
n7:DO_rare_slim
n2:IAO_0000115
A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
Subject Item
_:vb50949775
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004026
owl:someValuesFrom
n2:UBERON_0001130
wdrs:describedby
n6:doid.owl