About: developmental and epileptic encephalopathy 44

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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 recessive disease developmental and epileptic encephalopathy nodeID://b50940918
label	developmental and epileptic encephalopathy 44
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080424
database_cross_reference	OMIM:617132
has_exact_synonym	DEE44 early infantile epileptic encephalopathy 44
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940919

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