| Term Name: | Bardet-Biedl syndrome 9 |
|---|---|
| Synonyms: | BBS9 |
| Definition: | A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. |
| Ontology: | Human Disease [DOID:0110131] ( DOID:0110131 ) |