About: developmental and epileptic encephalopathy 89

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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://b50946318
label	developmental and epileptic encephalopathy 89
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112223
database_cross_reference	OMIM:619124
has_exact_synonym	DEE89 early infantile epileptic encephalopathy 89
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in GAD1 on chromosome 2q31.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946319

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