This HTML5 document contains 31 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_2512

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 _:vb50950893 _:vb50950894 n2:DOID_225

rdfs:label

nevoid basal cell carcinoma syndrome

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:2512

obo:hasDbXref

OMIM:109400 UMLS_CUI:C0004779 NCI:C2892 MEDDRA:10062804 SNOMEDCT_US_2021_09_01:69408002 GARD:7166 ORDO:377 MESH:D001478

obo:hasExactSynonym

basal cell nevus syndrome NBCCS Gorlin syndrome

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has_material_basis_in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively.

Subject Item

_:vb50950893

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n7:doid.owl

Subject Item

_:vb50950894

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0001000

owl:someValuesFrom

n2:CL_0000646

wdrs:describedby

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