Joubert syndrome 3

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.

Also known as AHI1 Joubert syndrome, JBTS3, Joubert syndrome 3, Joubert syndrome caused by mutation in AHI1, Joubert syndrome type 3 — per MONDO

Also identified as

• DOID 0110998 per MONDO
• MESH C536295 per MONDO
• NCIT C148259 per MONDO
• OMIM 608629 per MONDO
• UMLS C1837713 per MONDO