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Namespace Prefixes

PrefixIRI
n4https://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_0111168
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_543 _:vb50944349 _:vb50944350 n2:DOID_0050736 n2:DOID_0050737
rdfs:label
sepiapterin reductase deficiency
wdrs:describedby
n4:doid.owl
obo:id
DOID:0111168
obo:hasDbXref
UMLS_CUI:C0268468 SNOMEDCT_US_2021_09_01:45116002 GARD:10365 ORDO:70594 MESH:C562657 OMIM:612716
obo:hasExactSynonym
DRD due to SRD SRD SPR deficiency dopa-responsive dystonia due to sepiapterin reductase deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.
Subject Item
_:vb50944349
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n4:doid.owl
Subject Item
_:vb50944350
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n4:doid.owl