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About: developmental and epileptic encephalopathy 7     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • developmental and epileptic encephalopathy 7
described by
id
  • DOID:0080462
database_cross_reference
  • OMIM:613720
  • ORDO:439218
has_exact_synonym
  • KCNQ2-related epileptic encephalopathy (en)
  • KCNQ2-related neonatal epileptic encephalopathy (en)
  • early infantile epileptic encephalopathy 7
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
is topic of
is annotatedSource of
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