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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#
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_0111732
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0080006 _:vb50945368 n2:DOID_0050737
rdfs:label
Eiken syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111732
obo:hasDbXref
MESH:C564010 UMLS_CUI:C1838779 SNOMEDCT_US_2021_09_01:720863002 OMIM:600002 ORDO:79106
obo:hasExactSynonym
Eiken skeletal dysplasia bone modeling defect of hands and feet
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31.
Subject Item
_:vb50945368
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl