|
| General Information | |||
|---|---|---|---|
| Term | EAST syndrome | ID (Ontology) | DOID:0060484 (Human Disease) |
| 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. | ||
| Also Known As | "epilepsy, ataxia, sensorineural deafness and tubulopathy" ; "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" ; "SeSAME syndrome" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| EAST syndrome 11 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease syndrome |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
MESH:C557674 MIM:612780 ORDO:199343 SNOMEDCT_US_2023_03_01:721207002 UMLS_CUI:C2748572 |
|||