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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 characterized 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 chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
OMIM
ClinVar
RGD
PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      EAST syndrome 4
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        central nervous system disease 11306
          brain disease 10593
            disease of mental health 7503
              developmental disorder of mental health 4869
                specific developmental disorder 4129
                  intellectual disability 3945
                    EAST syndrome 4
paths to the root