About: developmental and epileptic encephalopathy 47

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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://b50940920
label	developmental and epileptic encephalopathy 47
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080425
database_cross_reference	OMIM:617166
has_exact_synonym	DEE47 early infantile epileptic encephalopathy 47
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940921

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