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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hemochromatosis type 2
Summary
- Synonym
-
- 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.
- Super Class
- hemochromatosis
External Links
- Disease Ontology
- DOID:0111034
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6NW40 | Repulsive guidance molecule B | |
| Q6ZVN8 | Hemojuvelin | |
| Q96B86 | Repulsive guidance molecule A |
