About: developmental and epileptic encephalopathy 87

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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://b50946314
label	developmental and epileptic encephalopathy 87
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112221
database_cross_reference	OMIM:618916
has_exact_synonym	DEE87 early infantile epileptic encephalopathy 87
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in CDK19 on chromosome 6q21.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946315

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