About: developmental and epileptic encephalopathy 55

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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://b50940683
label	developmental and epileptic encephalopathy 55 (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080283
database_cross_reference	OMIM:617599
has_exact_synonym	glycosylphosphatidylinositol biosynthesis defect 14 DEE55 GPIBD14 early infantile epileptic encephalopathy 55
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940684

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