About: developmental and epileptic encephalopathy 23

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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://b50940902
label	developmental and epileptic encephalopathy 23
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080415
database_cross_reference	OMIM:615859 ORDO:411986
has_exact_synonym	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome (en) DEE23 Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (en) early infantile epileptic encephalopathy 23
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940903

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