This HTML5 document contains 30 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#
n8	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_0060316

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0080009 _:vb50938635 n2:DOID_4501

rdfs:label

orofaciodigital syndrome I

wdrs:describedby

n7:doid.owl

obo:id

DOID:0060316

obo:created_by

emitraka

obo:creation_date

2015-03-09T17:15:07Z

obo:hasDbXref

SNOMEDCT_US_2021_09_01:52868006 UMLS_CUI:C0026363 SNOMEDCT_US_2021_09_01:403773005 OMIM:311200 UMLS_CUI:C1510460 MESH:D009958 ICD10CM:Q87.0 UMLS_CUI:C0029294 NCI:C75481 ORDO:2750 SNOMEDCT_US_2021_09_01:1779005

obo:hasExactSynonym

orofaciodigital syndrome 1 Papillon-Leage-Psaume syndrome orofaciodigital syndrome type I

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:DO_rare_slim

n2:IAO_0000115

An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.

Subject Item

_:vb50938635

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000146

wdrs:describedby

n7:doid.owl