About: developmental and epileptic encephalopathy 65

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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://b50940930
label	developmental and epileptic encephalopathy 65
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080430
database_cross_reference	OMIM:618008
has_exact_synonym	DEE65 early infantile epileptic encephalopathy 65
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940931

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