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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:30311386, PMID:30776697, 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, PMID:30311386 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 16045
    syndrome 6991
      electroclinical syndrome 395
        infantile or early childhood epileptic encephalopathy 2 8
          early infantile epileptic encephalopathy 2 7
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            epilepsy 1528
              Generalized Epilepsy 295
                idiopathic generalized epilepsy 167
                  childhood onset epileptic encephalopathy 43
                    infantile or early childhood epileptic encephalopathy 2 8
                      early infantile epileptic encephalopathy 2 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.