Term Name: | hemochromatosis type 2 |
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Synonyms: | HFE2, JHH, juvenile hemochromatosis |
Definition: | A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. |
Ontology: | Human Disease [DOID:0111034] ( DOID:0111034 ) |