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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:EAST syndrome
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Accession:DOID:0060484 term browser browse the term
Definition:A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO)
Synonyms:exact_synonym: SESAMES;   SeSAME syndrome;   epilepsy, ataxia, sensorineural deafness and tubulopathy;   seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance syndrome;   seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
 narrow_synonym: cerebellar ataxia, KCNJ10-related
 broad_synonym: KCNJ10-related disorder;   KCNJ10-related disorders
 primary_id: MESH:C557674
 alt_id: OMIA:002089;   OMIM:612780
 xref: ORDO:199343
For additional species annotation, visit the Alliance of Genome Resources.


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EAST syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:90,692,590...90,703,262
Ensembl chr13:90,692,666...90,700,789
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: EAST syndrome
ClinVar Annotator: match by OMIM:612780
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
ClinVar Annotator: match by term: SeSAME syndrome
ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy
OMIM
ClinVar
PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23918157 PMID:23924083 PMID:23965030 PMID:24378235 PMID:24860705 PMID:25372295 PMID:25741868 PMID:26467025 PMID:27171548 PMID:27182706 PMID:27535533 PMID:27677466 PMID:27875746 PMID:27884173 PMID:28492532 PMID:28747464 PMID:28835827 PMID:29615871 PMID:30304693 PMID:30733538 PMID:32062759 PMID:32233732 PMID:32581362, PMID:19420365 RGD:8662866 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:90,703,046...90,710,148
Ensembl chr13:90,703,036...90,710,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      EAST syndrome 4
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            disease of mental health 7036
              developmental disorder of mental health 4371
                specific developmental disorder 3629
                  intellectual disability 3441
                    EAST syndrome 4
paths to the root