Geleophysic dysplasia 2

Definition

Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.

Also known as FBN1 geleophysic dysplasia, Geleophysic dysplasia 2, geleophysic dysplasia caused by mutation in FBN1, Geleophysic dysplasia type 2 — per MONDO

Also identified as

• DOID 0111726 per MONDO
• OMIM 614185 per MONDO
• UMLS C3280054 per MONDO