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Namespace Prefixes

PrefixIRI
n8https://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#
n6http://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_0050463
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2256 _:vb50936874 n2:DOID_0050736
rdfs:label
campomelic dysplasia
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n8:doid.owl
obo:id
DOID:0050463
obo:hasDbXref
UMLS_CUI:C1861923 NCI:C84609 OMIM:114290 GARD:10027 MESH:D055036 ORDO:140 UMLS_CUI:C1861922 NCI:C120205
obo:hasExactSynonym
Acampomelic Campomelic Dysplasia
obo:hasOBONamespace
disease_ontology
obo:inSubset
n6:NCIthesaurus
n2:IAO_0000115
An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
Subject Item
_:vb50936874
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n8:doid.owl