Cutis laxa, autosomal dominant 2

Definition

Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.

Also known as autosomal dominant cutis laxa caused by mutation in FBLN5, cutis laxa, autosomal dominant 2, cutis laxa, autosomal dominant type 2, FBLN5 autosomal dominant cutis laxa — per MONDO

Also identified as

• DOID 0070136 per MONDO
• OMIM 614434 per MONDO
• UMLS C3280794 per MONDO