| Metadata | |
|---|---|
| ID | DOID:0110996 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110996 Copy |
| Name | Joubert syndrome 27 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. https://www.ncbi.nlm.nih.gov/pubmed/24886560 |
| Xrefs | |
| Synonyms |
JBTS27 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |