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_2736

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0080001 n2:DOID_0050736 _:vb50951121

rdfs:label

Hajdu-Cheney syndrome

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:2736

obo:hasAlternativeId

DOID:2735

obo:hasDbXref

MESH:D031845 UMLS_CUI:C0917990 UMLS_CUI:C0917715 MESH:D030981 SNOMEDCT_US_2021_09_01:63122002 NCI:C35545 NCI:C84745 OMIM:102500 GARD:508

obo:hasExactSynonym

acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia Cheney syndrome HJCYS serpentine fibula-polycystic kidney syndrome SFPKS

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12.

Subject Item

_:vb50951121

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n7:doid.owl