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DOID:0060484 - EAST syndrome
Disease Ontology 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.
Synonyms: epilepsy, ataxia, sensorineural deafness and tubulopathy, seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance, SeSAME syndrome
Xenbase Genes
:
kcnj10
| MONDO:0013005 - EAST syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)