This HTML5 document contains 21 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#
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_0111514

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0080027 _:vb50944959 n2:DOID_0050736

rdfs:label

metatropic dysplasia

wdrs:describedby

n7:doid.owl

obo:id

DOID:0111514

obo:hasDbXref

MESH:C537356 SNOMEDCT_US_2021_09_01:22764001 OMIM:156530 NCI:C175209 UMLS_CUI:C0265281 GARD:3571 ORDO:2635

obo:hasExactSynonym

metatropic dwarfism

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.

Subject Item

_:vb50944959

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n7:doid.owl