| Term Name: | Bardet-Biedl syndrome 16 |
|---|---|
| Synonyms: | BBS16 |
| Definition: | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. |
| Ontology: | Human Disease [DOID:0110138] ( DOID:0110138 ) |