| Metadata | |
|---|---|
| ID | DOID:0111034 |
| Name | hemochromatosis type 2 |
| 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. https://www.ncbi.nlm.nih.gov/books/NBK1170/, https://www.ncbi.nlm.nih.gov/pubmed/10205270 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HFE2 [EXACT] JHH [EXACT] juvenile hemochromatosis [EXACT] |
| Parent Relationships |
is_a hemochromatosis |