Bardet-Biedl syndrome 13

Definition

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.

Also known as Bardet-Biedl syndrome 13, Bardet-Biedl syndrome caused by mutation in MKS1, Bardet-Biedl syndrome type 13, BBS13, MKS1 Bardet-Biedl syndrome — per MONDO

Also identified as

• DOID 0110135 per MONDO
• MESH C567140 per MONDO
• OMIM 615990 per MONDO
• UMLS C2673873 per MONDO