Joubert syndrome 2

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.

Also known as cerebellooculorenal syndrome 2, CORS2, JBTS2, Joubert syndrome 2, Joubert syndrome caused by mutation in TMEM216, Joubert syndrome type 2, TMEM216 Joubert syndrome — per MONDO

Also identified as

• DOID 0110988 per MONDO
• MESH C536294 per MONDO
• OMIM 608091 per MONDO
• UMLS C1842577 per MONDO