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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, 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;   RDO:0009977
 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 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO 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: EAST 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:29615871, PMID:30304693, PMID:32581362, PMID:19420365 RGD:8662866 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      EAST syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    EAST syndrome 1
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.