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Namespace Prefixes

PrefixIRI
n6https://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_0110087
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 n2:DOID_0050592 _:vb50942489
rdfs:label
asphyxiating thoracic dystrophy 3
wdrs:describedby
n6:doid.owl
obo:id
DOID:0110087
obo:hasDbXref
ICD10CM:Q77.2 OMIM:613091
obo:hasExactSynonym
short rib-polydactyly syndrome, type I SRPS1 polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type IIB Verma-Naumoff syndrome ATD3 Saldino-Noonan syndrome short-rib thoracic dysplasia 3 with or without polydactyly polydactyly with neonatal chondrodystrophy, type I SRPS2B SRPS3 SRTD3
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
Subject Item
_:vb50942489
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl