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Namespace Prefixes

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rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

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dc:type

n3:ECO_0007645

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n3:IAO_0000115

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A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/28334793 url:https://pubmed.ncbi.nlm.nih.gov/32042915/