| Term Name: | Bardet-Biedl syndrome 2 |
|---|---|
| Synonyms: | BBS2 |
| Definition: | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. |
| Ontology: | Human Disease [DOID:0110124] ( DOID:0110124 ) |