About: developmental and epileptic encephalopathy 76

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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://b50946296
label	developmental and epileptic encephalopathy 76
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112212
database_cross_reference	OMIM:618468
has_exact_synonym	DECAM DEE76 early infantile epileptic encephalopathy 76 developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946297

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