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Namespace Prefixes

Prefix	IRI
n8	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#
n6	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_13994

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 _:vb50949344 n2:DOID_2256

rdfs:label

cleidocranial dysplasia

rdfs:comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n8:doid.owl

obo:id

DOID:13994

obo:hasDbXref

MESH:D002973 ORDO:1452 OMIM:216330 UMLS_CUI:C0008928 GARD:6118 ICD10CM:Q74.0 SNOMEDCT_US_2021_09_01:65976001 NCI:C75020 OMIM:119600

obo:hasExactSynonym

Marie-Sainton Disease cleidocranial dysostosis

obo:hasOBONamespace

disease_ontology

obo:inSubset

n6:DO_rare_slim n6:NCIthesaurus

n2:IAO_0000115

An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.

Subject Item

_:vb50949344

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n8:doid.owl