About: developmental and epileptic encephalopathy 33

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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://b50940996
label	developmental and epileptic encephalopathy 33
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080463
database_cross_reference	OMIM:616409
has_exact_synonym	DEE33 early infantile epileptic encephalopathy 33
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 seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940997

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