About: developmental and epileptic encephalopathy 42

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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 dominant disease developmental and epileptic encephalopathy nodeID://b50940978
label	developmental and epileptic encephalopathy 42
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080454
database_cross_reference	OMIM:617106
has_exact_synonym	DEE42 early infantile epileptic encephalopathy 42
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940979

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