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Namespace Prefixes

PrefixIRI
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n6http://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
_:vb50940983
rdf:type
owl:Axiom
wdrs:describedby
n5:doid.owl
dc:type
n6:ECO_0007645
owl:annotatedProperty
n6:IAO_0000115
owl:annotatedSource
n6:DOID_0080456
owl:annotatedTarget
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/27616483 url:https://pubmed.ncbi.nlm.nih.gov/30280376/