Meckel syndrome, type 1

Definition

Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.

Also known as Meckel syndrome caused by mutation in MKS1, Meckel syndrome, type 1, Meckel-Gruber syndrome, type 1, MKS1, MKS1 Meckel syndrome — per MONDO

Also identified as

• DOID 0070115 per MONDO
• MESH C536133 per MONDO
• OMIM 249000 per MONDO
• UMLS C3714506 per MONDO