ONTOLOGY REPORT - ANNOTATIONS


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. It 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: Ataxia, cerebellar, 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
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EAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:8554872
G Igsf8 immunoglobulin superfamily, member 8 JBrowse link 13 90,692,590 90,703,262 RGD:8554872
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:7240710
RGD:8554872
RGD:8662866
G Kcnj9 potassium voltage-gated channel subfamily J member 9 JBrowse link 13 90,703,046 90,710,148 RGD:8554872

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  disease 14875
    syndrome 4220
      EAST syndrome 4
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    EAST syndrome 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.