About: developmental and epileptic encephalopathy 74

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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 dominant disease developmental and epileptic encephalopathy nodeID://b50946292
label	developmental and epileptic encephalopathy 74
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112210
database_cross_reference	OMIM:618396
has_exact_synonym	DEE74 early infantile epileptic encephalopathy 74
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946293

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