This HTML5 document contains 7 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
dchttp://purl.org/dc/elements/1.1/
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
_:vb50946295
rdf:type
owl:Axiom
wdrs:describedby
n6:doid.owl
dc:type
n3:ECO_0007645
owl:annotatedProperty
n3:IAO_0000115
owl:annotatedSource
n3:DOID_0112211
owl:annotatedTarget
A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in PARS2 on chromosome 1p32.3.
obo:hasDbXref
url:https://pubmed.ncbi.nlm.nih.gov/29915213/