About: developmental and epileptic encephalopathy 53

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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://b50940998
label	developmental and epileptic encephalopathy 53
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080464
database_cross_reference	OMIM:617389
has_exact_synonym	DEE53 early infantile epileptic encephalopathy 53
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940999

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