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Metadata
ID DOID:0060484
Name EAST syndrome
Definition A syndrome characterize 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.
https://www.ncbi.nlm.nih.gov/pubmed/19289823, https://www.ncbi.nlm.nih.gov/pubmed/19420365, https://www.ncbi.nlm.nih.gov/pubmed/23471908
Xrefs

MESH:C557674

OMIM:612780

ORDO:199343

SNOMEDCT_US_2020_09_01:721207002

UMLS_CUI:C2748572

Subsets

DO_rare_slim

Synonyms

epilepsy, ataxia, sensorineural deafness and tubulopathy [EXACT]

seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance [EXACT]

SeSAME syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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