Cranioectodermal dysplasia 1

Definition

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.

Also known as CED1, cranioectodermal dysplasia 1, cranioectodermal dysplasia caused by mutation in IFT122, cranioectodermal dysplasia type 1, IFT122 cranioectodermal dysplasia — per MONDO

Also identified as

• DOID 0080803 per MONDO
• OMIM 218330 per MONDO
• UMLS C0432235 per MONDO