Cranioectodermal dysplasia 3

Definition

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.

Also known as cranioectodermal dysplasia 3, cranioectodermal dysplasia caused by mutation in IFT43, Cranioectodermal dysplasia type 3, IFT43 cranioectodermal dysplasia — per MONDO

Also identified as

• DOID 0080805 per MONDO
• OMIM 614099 per MONDO
• UMLS C3279807 per MONDO