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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:infantile or early childhood epileptic encephalopathy 2
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Accession:DOID:0080471 term browser browse the term
Definition:An electroclinical syndrome characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. (DO)
Synonyms:primary_id: OMIM:617829
For additional species annotation, visit the Alliance of Genome Resources.


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infantile or early childhood epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 2
ClinVar
OMIM
PMID:25124326 PMID:25741868 PMID:27789573 PMID:28492532 PMID:29100083 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
JBrowse link
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30776697 PMID:31042466 PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      electroclinical syndrome 392
        infantile or early childhood epileptic encephalopathy 2 8
          early infantile epileptic encephalopathy 2 7
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            epilepsy 1485
              Generalized Epilepsy 288
                idiopathic generalized epilepsy 168
                  childhood onset epileptic encephalopathy 43
                    infantile or early childhood epileptic encephalopathy 2 8
                      early infantile epileptic encephalopathy 2 7
paths to the root