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Namespace Prefixes

PrefixIRI
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dchttp://purl.org/dc/elements/1.1/
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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
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dc:type
n6:ECO_0007645
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n6:IAO_0000115
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A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/20833646 url:https://pubmed.ncbi.nlm.nih.gov/22690784/