This HTML5 document contains 20 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_0110092

rdf:type

owl:Class

rdfs:subClassOf

_:vb50942499 n2:DOID_0050737 n2:DOID_0050592

rdfs:label

short-rib thoracic dysplasia 6 with or without polydactyly

wdrs:describedby

n7:doid.owl

obo:id

DOID:0110092

obo:hasDbXref

ICD10CM:Q77.2 OMIM:263520

obo:hasExactSynonym

Majewski syndrome SRTD6 short rib-polydactyly syndrome type IIA SRPS2A polydactyly with neonatal chondrodystrophy, type II

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.

Subject Item

_:vb50942499

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n7:doid.owl