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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:Landau-Kleffner syndrome
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Accession:DOID:2538 term browser browse the term
Definition:A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. (DO)
Synonyms:exact_synonym: Acquired Aphasia with Epilepsy;   Acquired Childhoood Aphasia with Convulsive Disorder;   Acquired Epileptic Aphasia;   Acquired Epileptic Aphasias;   Acquired Epileptiform Aphasia;   Acquired Epileptiform Aphasias;   LKS;   Landau Kleffner acquired epileptiform aphasia;   acquired aphasia with convulsive disorder
 primary_id: MESH:D018887
 xref: EFO:1001010;   GARD:6855;   ICD10CM:G40.8;   NCI:C84806;   ORDO:98818
For additional species annotation, visit the Alliance of Genome Resources.


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Landau-Kleffner syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420 		JBrowse link
G ATF7IP2 activating transcription factor 7 interacting protein 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,314,019...9,411,940
Ensembl chr16:10,589,012...10,642,209 		JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:7,788,614...7,802,850
Ensembl chr16:9,024,014...9,039,900 		JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,887,877...10,124,500
Ensembl chr16:11,109,869...11,343,512 		JBrowse link
G DEXI Dexi homolog ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,872,268...9,885,778 JBrowse link
G EMP2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,465,589...9,517,593
Ensembl chr16:10,694,425...10,744,744 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:7574460 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 More... NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 PMID:25741905 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799 		JBrowse link
G HAPSTR1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,022,686...8,050,704
Ensembl chr16:9,258,752...9,283,523 		JBrowse link
G ITSN2 intersectin 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr2A:24,199,600...24,354,314
Ensembl chr2A:24,297,373...24,419,593 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:10,488,738...10,527,843
Ensembl chr16:11,714,325...11,750,521 		JBrowse link
G NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,681,800...9,708,673
Ensembl chr16:10,906,719...10,931,800 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406 		JBrowse link
G PRM1 protamine 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:10,222,779...10,223,289 JBrowse link
G PRM2 protamine 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:10,217,586...10,218,446
Ensembl chr16:11,439,417...11,440,265 		JBrowse link
G PRM3 protamine 3 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:10,215,159...10,215,812 JBrowse link
G RMI2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:10,286,136...10,292,377
Ensembl chr16:11,480,066...11,513,561 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:10,196,432...10,198,205 JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971 		JBrowse link
G TEKT5 tektin 5 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,558,028...9,634,095
Ensembl chr16:10,790,966...10,858,711 		JBrowse link
G TMEM186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:7,728,655...7,731,232
Ensembl chr16:8,969,078...8,971,654 		JBrowse link
G TNP2 transition protein 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:10,209,801...10,211,466
Ensembl chr16:11,431,822...11,433,087 		JBrowse link
G TVP23A trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,689,717...9,757,842
Ensembl chr16:10,932,704...10,980,351 		JBrowse link
G USP7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:7,825,332...7,895,095
Ensembl chr16:9,065,858...9,106,146 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      electroclinical syndrome 1357
        absence epilepsy 234
          childhood electroclinical syndrome 106
            Landau-Kleffner syndrome 25
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            epilepsy 2800
              electroclinical syndrome 1357
                absence epilepsy 234
                  childhood electroclinical syndrome 106
                    Landau-Kleffner syndrome 25
paths to the root