This HTML5 document contains 19 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n5	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_0080769

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_1826 n2:DOID_0050737 _:vb50941600 _:vb50941601

rdfs:label

early-onset vitamin B6-dependent epilepsy

wdrs:describedby

n5:doid.owl

obo:id

DOID:0080769

obo:hasDbXref

OMIM:617290

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11.

Subject Item

_:vb50941600

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n5:doid.owl

Subject Item

_:vb50941601

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0002200

owl:someValuesFrom

n2:HP_0004340

wdrs:describedby

n5:doid.owl