Joubert syndrome 10

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.

Also known as JBTS10, Joubert syndrome 10, Joubert syndrome 10, X-linked recessive, Joubert syndrome caused by mutation in OFD1, Joubert syndrome type 10, OFD1 Joubert syndrome — per MONDO

Also identified as

• DOID 0110981 per MONDO
• MESH C567582 per MONDO
• OMIM 300804 per MONDO
• UMLS C2749019 per MONDO