Bardet-Biedl syndrome 12

Definition

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.

Also known as Bardet-Biedl syndrome 12, Bardet-Biedl syndrome caused by mutation in BBS12, Bardet-Biedl syndrome type 12, BBS12, BBS12 Bardet-Biedl syndrome — per MONDO

Also identified as

• DOID 0110134 per MONDO
• MESH C565921 per MONDO
• OMIM 615989 per MONDO
• UMLS C1859570 per MONDO