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
Accession: DOID:0050561
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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 ; OMIM:606369
xref: GARD:9912 ; NCI:C84816 ; ORDO:2382
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:25741868
NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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Dgkd
diacylglycerol kinase, delta
ISS
OMIM:606369
MouseDO
NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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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 PMID:28492532 More...
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Gatm
glycine amidinotransferase
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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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:25740509 PMID:25741868 PMID:25741905 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170 More...
NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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Mapk10
mitogen activated protein kinase 10
ISO
ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy
ClinVar
PMID:16249883
NCBI chr14:6,497,662...6,790,109
Ensembl chr14:6,497,707...6,786,201
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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 PMID:21880868 PMID:22647225 PMID:23426270 PMID:23811324 PMID:24122062 PMID:24259288 PMID:24331360 PMID:24508722 PMID:25193669 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29029963 PMID:29997391 PMID:30255931 PMID:30373890 PMID:31658717 PMID:31669236 PMID:32234506 PMID:33513296 PMID:33683010 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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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
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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