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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_11725
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050177 n2:DOID_225 _:vb50947936
rdfs:label
Cornelia de Lange syndrome
rdfs:comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n7:doid.owl
obo:id
DOID:11725
obo:hasDbXref
ORDO:199 NCI:C75016 SNOMEDCT_US_2021_09_01:40354009 OMIM:PS122470 GARD:10109 UMLS_CUI:C0270972 MESH:D003635 ICD10CM:Q87.19
obo:hasExactSynonym
De Lange syndrome Brachmann de Lange syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_rare_slim n8:NCIthesaurus
n2:IAO_0000115
A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Subject Item
_:vb50947936
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:SO_0000704
wdrs:describedby
n7:doid.owl