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#
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_9248

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_225 n2:DOID_0050736 _:vb50956403

rdfs:label

Pallister-Hall syndrome

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n4:doid.owl

obo:id

DOID:9248

obo:hasDbXref

SNOMEDCT_US_2021_09_01:56677004 UMLS_CUI:C0265220 MESH:D054975 OMIM:146510 NCI:C84987 GARD:7305

obo:hasExactSynonym

A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

Subject Item

_:vb50956403

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n4:doid.owl