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Namespace Prefixes

PrefixIRI
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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
_:vb50946285
rdf:type
owl:Axiom
wdrs:describedby
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dc:type
n3:ECO_0007645
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n3:IAO_0000115
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n3:DOID_0112206
owl:annotatedTarget
A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in PHACTR1 on chromosome 6p24.1.
obo:hasDbXref
url:https://pubmed.ncbi.nlm.nih.gov/30256902/