| Metadata | |
|---|---|
| ID | DOID:0110987 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110987 Copy |
| Name | Joubert syndrome 18 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/22883145 |
| Xrefs | |
| Synonyms |
JBTS18 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |