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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_0090116
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 n2:DOID_0080006 n2:DOID_0060564 _:vb50942286 _:vb50942287
rdfs:label
spondylocarpotarsal synostosis syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0090116
obo:hasDbXref
ICD10CM:Q76.4 OMIM:272460 GARD:4974 ORDO:3275
obo:hasExactSynonym
spondylocarpotarsal syndrome spondylocarpotarsal synostosis congenital scoliosis with unilateral unsegmented bar vertebral fusion with carpal coalition SCT congenital synspondylism
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.
Subject Item
_:vb50942286
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50942287
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004026
owl:someValuesFrom
n2:UBERON_0001130
wdrs:describedby
n7:doid.owl