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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:Lennox-Gastaut syndrome
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Accession:DOID:0050561 term browser browse the term
Definition:A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. (DO)
Synonyms:exact_synonym: Lennox syndrome;   Lennox-Gastaut syndromes;   childhood epileptic encephalopathy with diffuse slow spikes and waves;   epileptic encephalopathy, Lennox-Gastaut type;   macrocephaly and epileptic encephalopathy
 primary_id: MESH:D065768
 alt_id: MESH:C535500;   MIM:606369
 xref: GARD:9912;   NCI:C84816;   ORDO:2382


show annotations for term's descendants           Sort by:
Lennox-Gastaut syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:25741868 NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:136,599,900...136,710,335 		JBrowse link
G Dgkd diacylglycerol kinase, delta ISS OMIM:606369 MouseDO NCBI chr 9:95,964,507...96,055,160
Ensembl chr 9:95,964,148...96,055,160 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:22539854 PMID:22750526 PMID:24407264 PMID:25741868 PMID:27066572 More... NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr 3:130,112,508...130,137,664
Ensembl chr 3:130,112,509...130,129,355 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:23020937 PMID:23934111 PMID:24851285 PMID:25740509 PMID:25741868 More... NCBI chr 7:99,614,089...99,914,736
Ensembl chr 7:99,619,544...99,914,610 		JBrowse link
G Mapk10 mitogen activated protein kinase 10 ISO ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy ClinVar PMID:16249883 NCBI chr14:6,802,247...7,094,103
Ensembl chr14:6,802,295...7,094,100 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:15181170 PMID:15351195 PMID:16401742 PMID:19578034 PMID:19752458 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy ClinVar PMID:17347258 PMID:19589774 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:49,624,028...49,754,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    syndrome 11394
      electroclinical syndrome 1521
        absence epilepsy 256
          childhood electroclinical syndrome 111
            Lennox-Gastaut syndrome 10
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        central nervous system disease 12644
          brain disease 11865
            epilepsy 2949
              electroclinical syndrome 1521
                absence epilepsy 256
                  childhood electroclinical syndrome 111
                    Lennox-Gastaut syndrome 10
paths to the root