Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:EAST syndrome
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
EAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 13 90,722,945 90,753,338 RGD:7240710
RGD:8554872
RGD:8662866

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      EAST syndrome 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5776
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    EAST syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.