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 |