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Namespace Prefixes

PrefixIRI
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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_0060853
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060429
rdfs:label
Potocki-Lupski syndrome
wdrs:describedby
n5:doid.owl
obo:id
DOID:0060853
obo:hasDbXref
NCI:C124846 ORDO:1713 SNOMEDCT_US_2021_09_01:734016004 MESH:C538355 GARD:10145 OMIM:610883 UMLS_CUI:C2931246
obo:hasExactSynonym
trisomy 17p11.2 chromosome 17p11.2 duplication syndrome 17p11.2 microduplication syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n2:IAO_0000115
A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.