SPARQL | HTML Microdata document
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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#
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_0090031
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_906
_:vb50942122
rdfs:label
D-bifunctional protein deficiency
wdrs:describedby
n6:doid.owl
obo:id
DOID:0090031
obo:hasDbXref
OMIM:261515
ICD10CM:E71.3
ORDO:300
GARD:4539
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
Subject Item _:vb50942122
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:SO_0001537
wdrs:describedby
n6:doid.owl