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hemochromatosis type 2A
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111027
OMIM:602390
MONDO:0011216
High level summary of knowledge for a disease, including descriptions and datasource references.