|
| General Information | |||
|---|---|---|---|
| Term | Joubert syndrome 15 | ID (Ontology) | DOID:0110984 (Human Disease) |
| Definition | A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. | ||
| Also Known As | "JBTS15" | ||
| 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
|
|||
|
No relevant statements available
|
|||
|
||||||
ciliopathy |__Joubert syndrome__ polygenic disease | |__digenic disease___| brain disease | |__Joubert syndrome__| Joubert syndrome 15 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
Joubert syndrome digenic disease |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
| MIM:614464 | |||