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. [ http://purl.obolibrary.org/obo/ECO_0007646 url:https://www.ncbi.nlm.nih.gov/pubmed/10205270 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/books/NBK1170/ ]
Synonyms: HFE2 JHH juvenile hemochromatosis
Term information
Term relations
- hemochromatosis
- disease has feature some cardiomyopathy
- disease has feature some arthropathy
- disease has feature some hypogonadotropic hypogonadism
- disease has feature some liver cirrhosis