Smith-McCort dysplasia 2

Definition

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.

Also known as RAB33B Smith-McCort dysplasia, Smith-McCort dysplasia 2, Smith-McCort dysplasia caused by mutation in RAB33B, Smith-McCort dysplasia type 2 — per MONDO

Also identified as

• DOID 0081271 per MONDO
• OMIM 615222 per MONDO
• UMLS C3714896 per MONDO