Telangiectasia, hereditary hemorrhagic, type 2

Definition

Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.

Also known as ACVRL1 hereditary hemorrhagic telangiectasia, hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1, telangiectasia, hereditary hemorrhagic, type 2 — per MONDO

Also identified as

• OMIM 600376 per MONDO
• UMLS C1838163 per MONDO