Telangiectasia, hereditary hemorrhagic, type 5

Definition

Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.

Also known as GDF2 hereditary hemorrhagic telangiectasia, GDF2 related HHT-like syndrome, hereditary hemorrhagic telangiectasia caused by mutation in GDF2, telangiectasia, hereditary hemorrhagic, type 5 — per MONDO

Also identified as

• OMIM 615506 per MONDO
• UMLS C3809710 per MONDO