Metadata | |
---|---|
ID | DOID:0110131 |
Name | Bardet-Biedl syndrome 9 |
Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. https://www.ncbi.nlm.nih.gov/pubmed/16380913 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
BBS9 [EXACT] |
Parent Relationships |