Geleophysic dysplasia 1

Definition

Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.

Also known as ADAMTSL2 geleophysic dysplasia, geleophysic dysplasia 1, geleophysic dysplasia caused by mutation in ADAMTSL2, Geleophysic dysplasia type 1 — per MONDO

Also identified as

• DOID 0111725 per MONDO
• OMIM 231050 per MONDO
• UMLS C3278147 per MONDO