This HTML5 document contains 33 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n6	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_0050475

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_225 n2:DOID_0050739 _:vb50936902

rdfs:label

Weill-Marchesani syndrome

rdfs:comment

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

wdrs:describedby

n6:doid.owl

obo:id

DOID:0050475

obo:hasDbXref

NCI:C85226 SNOMEDCT_US_2021_09_01:205801004 MESH:D056846 OMIM:277600 GARD:4936 ORDO:3449 UMLS_CUI:C1869114 OMIM:613195 UMLS_CUI:C0265313 OMIM:614819 OMIM:608328 UMLS_CUI:C1869115

obo:hasExactSynonym

congenital mesodermal dystrophy GEMSS syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome Marchesani-Weill Syndrome

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:DO_rare_slim n8:NCIthesaurus

n2:IAO_0000115

A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Subject Item

_:vb50936902

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000934

wdrs:describedby

n6:doid.owl