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DO Term : EAST syndrome [DOID:0060484] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 612780,
  • epilepsy, ataxia, sensorineural deafness and tubulopathy,
  • OMIM:612780,
  • SeSAME syndrome,
  • MESH:C557674,
  • seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance,
  • ORDO:199343,
  • UMLS_CUI:C2748572,
  • SNOMEDCT_US_2023_03_01:721207002
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents