| Metadata | |
|---|---|
| ID | DOID:0110130 |
| Name | Bardet-Biedl syndrome 8 |
| Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. https://www.ncbi.nlm.nih.gov/pubmed/14520415, https://www.ncbi.nlm.nih.gov/pubmed/16308660 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BBS8 [EXACT] |
| Parent Relationships |