| Metadata | |
|---|---|
| ID | DOID:0111000 |
| Name | Joubert syndrome 5 |
| Definition | A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/16682973 |
| Xrefs | |
| Synonyms |
JBTS5 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |