Metadata | |
---|---|
ID | DOID:0110124 |
Name | Bardet-Biedl syndrome 2 |
Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/16823392 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
BBS2 [EXACT] |
Parent Relationships |