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Disease Ontology Browser
EAST syndrome (DOID:0060484)
Alliance: disease page
Synonyms: epilepsy, ataxia, sensorineural deafness and tubulopathy; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; SeSAME syndrome
Alt IDs: OMIM:612780, MESH:C557674, ORDO:199343, UMLS_CUI:C2748572
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.

Disease References using Mouse Models (2)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
The Jackson Laboratory