SPARQL | HTML Microdata document
This HTML5 document contains 21 embedded RDF statements represented using HTML+Microdata notation.
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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_0110970
rdf:type
owl:Class
rdfs:subClassOf
_:vb50944005
n2:DOID_0050581
n2:DOID_0050736
rdfs:label
brachydactyly type C
wdrs:describedby
n7:doid.owl
obo:id
DOID:0110970
obo:hasDbXref
MESH:C537093
UMLS_CUI:C1862103
UMLS_CUI:C1300268
GARD:986
OMIM:113100
SNOMEDCT_US_2021_09_01:389169005
ORDO:93384
obo:hasExactSynonym
BDC
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
Subject Item _:vb50944005
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl