Meckel syndrome, type 2

Definition

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

Also known as Meckel syndrome caused by mutation in TMEM216, Meckel syndrome, type 2, Meckel-Gruber syndrome, type 2, MKS2, TMEM216 Meckel syndrome — per MONDO

Also identified as

• DOID 0070116 per MONDO
• MESH C536131 per MONDO
• OMIM 603194 per MONDO
• UMLS C1864148 per MONDO