Metadata | |
---|---|
ID | DOID:0110128 |
Name | Bardet-Biedl syndrome 6 |
Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. https://www.ncbi.nlm.nih.gov/pubmed/10973238, https://www.ncbi.nlm.nih.gov/pubmed/10973251 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
BBS6 [EXACT] |
Parent Relationships |