Cutis laxa, autosomal recessive, type 1A

Definition

An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.

Also known as ARCL1A — per MONDO

Also identified as

• DOID 0070135 per MONDO
• MESH C562628 per MONDO
• OMIM 219100 per MONDO
• SCTID 59451000 per MONDO
• UMLS C5848058 per MONDO