About: developmental and epileptic encephalopathy 36

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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	X-linked dominant disease developmental and epileptic encephalopathy nodeID://b50941006
label	developmental and epileptic encephalopathy 36
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080470
database_cross_reference	GARD:12401 OMIM:300884 ORDO:324422
has_exact_synonym	congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941007

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