About: developmental and epileptic encephalopathy 16

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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://b50940968
label	developmental and epileptic encephalopathy 16
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080449
database_cross_reference	OMIM:615338 ORDO:352596
has_exact_synonym	DEE16 early infantile epileptic encephalopathy 16
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940969

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