| Metadata | |
|---|---|
| ID | DOID:0110134 |
| Name | Bardet-Biedl syndrome 12 |
| Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. https://www.ncbi.nlm.nih.gov/pubmed/17160889, https://www.ncbi.nlm.nih.gov/pubmed/19797195 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BBS12 [EXACT] |
| Parent Relationships |