| Term Name: | Bardet-Biedl syndrome 12 |
|---|---|
| Synonyms: | BBS12 |
| Definition: | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. |
| Ontology: | Human Disease [DOID:0110134] ( DOID:0110134 ) |