About: developmental and epileptic encephalopathy 80

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease developmental and epileptic encephalopathy nodeID://b50946304
label	developmental and epileptic encephalopathy 80
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112216
database_cross_reference	OMIM:618580
has_exact_synonym	DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in PIGB on chromosome 15q21.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946305

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