Hemochromatosis type 2A

Definition

Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.

Also known as hemochromatosis type 2 caused by mutation in HJV, hemochromatosis type 2A, HFE2A, HJV hemochromatosis type 2 — per MONDO

Also identified as

• DOID 0111027 per MONDO
• OMIM 602390 per MONDO
• UMLS C1865614 per MONDO