SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n7 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
rdfs http://www.w3.org/2000/01/rdf-schema#
obo http://www.geneontology.org/formats/oboInOwl#
rdf http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl http://www.w3.org/2002/07/owl#
xsdh http://www.w3.org/2001/XMLSchema#
Statements
Subject Item n2:DOID_0111724
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0080006
rdfs:label
geleophysic dysplasia
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111724
obo:hasDbXref
ORDO:2623
SNOMEDCT_US_2021_09_01:28557005
OMIM:PS231050
UMLS_CUI:C3489726
GARD:2449
MEDDRA:10063361
obo:hasExactSynonym
GPHYSD
geleophysic dwarfism
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.