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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.



show annotations for term's descendants           Sort by:
 
developmental and epileptic encephalopathy 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609
JBrowse link
G Kcna10 potassium voltage-gated channel subfamily A member 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:194,786,500...194,798,575
Ensembl chr 2:194,786,500...194,798,575
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 OMIM
ClinVar
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:18414213 More... NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:195,063,967...195,099,233
Ensembl chr 2:195,071,769...195,099,233
JBrowse link
G Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:194,900,038...194,905,394
Ensembl chr 2:194,900,038...194,905,395
JBrowse link
G Prok1 prokineticin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:194,853,991...194,859,250
Ensembl chr 2:194,853,991...194,859,250
JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:194,945,717...194,954,523
Ensembl chr 2:194,945,974...194,954,703
JBrowse link
G Slc16a4 solute carrier family 16, member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:194,911,075...194,933,162
Ensembl chr 2:194,911,236...194,933,117
JBrowse link
G Slc6a17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:195,107,437...195,155,697
Ensembl chr 2:195,107,438...195,155,697
JBrowse link
G Ubl4b ubiquitin-like 4B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:28492532 NCBI chr 2:195,192,476...195,193,830
Ensembl chr 2:195,191,720...195,193,875
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      electroclinical syndrome 976
        developmental and epileptic encephalopathy 745
          developmental and epileptic encephalopathy 32 10
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            epilepsy 2644
              electroclinical syndrome 976
                neonatal period electroclinical syndrome 740
                  early infantile epileptic encephalopathy 720
                    developmental and epileptic encephalopathy 32 10
paths to the root