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About: developmental and epileptic encephalopathy 39     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 39 (en)
described by
id
  • DOID:0080349
has_alternative_id
  • DOID:0080423
database_cross_reference
  • OMIM:612949
  • ORDO:353217
has_exact_synonym
  • epileptic encephalopathy with global cerebral demyelination (en)
  • AGC1 deficiency (en)
  • early infantile epileptic encephalopathy 39
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
is topic of
is annotatedSource of
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