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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:developmental and epileptic encephalopathy 32
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Accession:DOID:0080416 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: DEE32;   EIEE32;   early infantile epileptic encephalopathy 32
 primary_id: OMIM:616366
 xref: NCI:C155998
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 OMIM
ClinVar
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:18414213 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:25950944 PMID:26467025 PMID:26599217 PMID:27062609 PMID:27457812 PMID:27543892 PMID:27733563 PMID:28032718 PMID:28166811 PMID:28204960 PMID:28492532 PMID:28806589 PMID:29050392 PMID:29100083 PMID:30283815 PMID:31170314 PMID:33624935 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 530
          developmental and epileptic encephalopathy 32 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            epilepsy 2151
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 537
                  early infantile epileptic encephalopathy 520
                    developmental and epileptic encephalopathy 32 1
paths to the root