Meckel syndrome, type 3

Definition

Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.

Also known as Meckel syndrome caused by mutation in TMEM67, Meckel syndrome, type 3, Meckel-Gruber syndrome, type 3, MKS3, TMEM67 Meckel syndrome — per MONDO

Also identified as

• DOID 0070117 per MONDO
• MESH C536132 per MONDO
• OMIM 607361 per MONDO
• UMLS C1846357 per MONDO