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Namespace Prefixes

PrefixIRI
n5https://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_0111159
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060429
rdfs:label
partial trisomy distal 4q
wdrs:describedby
n5:doid.owl
obo:id
DOID:0111159
obo:hasExactSynonym
Dup(4q) Syndrome, Partial Partial Trisomy 4q Syndrome Duplication 4q Syndrome, Partial Distal 4q Trisomy Chromosome 4, Partial Trisomy 4q
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.