This HTML5 document contains 21 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n4	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#
n7	http://purl.obolibrary.org/obo/doid#
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_0050763

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_225 n2:DOID_0050737 _:vb50937547

rdfs:label

ARC syndrome

wdrs:describedby

n4:doid.owl

obo:id

DOID:0050763

obo:created_by

lschriml

obo:creation_date

2013-01-17T12:46:38Z

obo:hasDbXref

ORDO:2697 OMIM:PS208085

obo:hasExactSynonym

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS

obo:hasOBONamespace

disease_ontology

obo:inSubset

n7:DO_FlyBase_slim

n2:IAO_0000115

A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.

Subject Item

_:vb50937547

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n4:doid.owl