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hemochromatosis type 2B

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.
Uniprot Description A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
Mondo Term and Equivalent IDs
MONDO:0013220:  hemochromatosis type 2B
MESH:C566557: 
UMLS:C1865616: