Desbuquois dysplasia 1

Definition

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.

Also known as CANT1 Desbuquois dysplasia, Desbuquois dysplasia 1, Desbuquois dysplasia caused by mutation in CANT1, Desbuquois dysplasia type 1 — per MONDO

Also identified as

• OMIM 251450 per MONDO
• UMLS C4012146 per MONDO