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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0111553
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0112280 _:vb50945042 n2:DOID_0050736
rdfs:label
spondyloepiphyseal dysplasia Maroteaux type
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111553
obo:hasDbXref
ORDO:263482 SNOMEDCT_US_2021_09_01:719204007 OMIM:184095 GARD:994 UMLS_CUI:C3159322
obo:hasExactSynonym
Brachyolmia Type 2 Pseudo-Morquio syndrome type 2 spondyloepiphyseal dysplasia of Maroteaux SED, Maroteaux type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
Subject Item
_:vb50945042
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl