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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
 related_synonym: SESAME-LIKE SYNDROME
 primary_id: MESH:C557674
 alt_id: MIM:612780;   OMIA:002089
 xref: ORDO:199343


show annotations for term's descendants           Sort by:
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 chr13:87,261,964...87,286,911
Ensembl chr13:87,261,968...87,286,911 		JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:87,282,015...87,314,018
Ensembl chr13:87,302,536...87,310,941 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO
ISS 		DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
CTD Direct Evidence: marker/mechanism
OMIM:612780
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:87,313,191...87,320,293
Ensembl chr13:87,312,378...87,320,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      EAST syndrome 4
Path 2
Term Annotations click to browse term
  disease 19150
    Pathological Conditions, Signs and Symptoms 13670
      Signs and Symptoms 11240
        Neurologic Manifestations 10485
          sensory system disease 7403
            Otorhinolaryngologic Diseases 1809
              auditory system disease 1074
                Hearing Disorders 858
                  Hearing Loss 853
                    sensorineural hearing loss 654
                      EAST syndrome 4
paths to the root