About   Help   FAQ
Disease Ontology Browser
EAST syndrome (DOID:0060484)
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/18/2017
MGI 6.08
The Jackson Laboratory