Meckel syndrome, type 5

Definition

Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.

Also known as Meckel syndrome caused by mutation in RPGRIP1L, Meckel syndrome, type 5, MKS5, RPGRIP1L Meckel syndrome — per MONDO

Also identified as

• DOID 0070119 per MONDO
• MESH C566915 per MONDO
• OMIM 611561 per MONDO
• UMLS C1969052 per MONDO