This HTML5 document contains 14 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_0050592

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0080006

rdfs:label

asphyxiating thoracic dystrophy

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:0050592

obo:hasDbXref

ORDO:474 OMIM:PS208500 ICD10CM:Q77.2

obo:hasExactSynonym

short-rib thoracic dysplasia with or without polydactyly Jeune syndrome thoracic pelvic phalangeal dystrophy

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.