Joubert syndrome 5

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.

Also known as CEP290 Joubert syndrome, JBTS5, Joubert syndrome 5, Joubert syndrome caused by mutation in CEP290, Joubert syndrome type 5 — per MONDO

Also identified as

• DOID 0111000 per MONDO
• MESH C537688 per MONDO
• OMIM 610188 per MONDO
• UMLS C1857780 per MONDO