Bardet-Biedl syndrome 18

Definition

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.

Also known as Bardet-Biedl syndrome 18, Bardet-Biedl syndrome caused by mutation in BBIP1, Bardet-Biedl syndrome type 18, BBIP1 Bardet-Biedl syndrome, BBS18 — per MONDO

Also identified as

• DOID 0110140 per MONDO
• OMIM 615995 per MONDO
• UMLS C3806174 per MONDO