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MIRAGE
hemochromatosis type 2A
Summary
- Synonym
-
- HFE2A
- Definition
- A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.
- Super Class
- hemochromatosis type 2
External Links
- Disease Ontology
- DOID:0111027
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6ZVN8 | Hemojuvelin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7TQ32 | Hemojuvelin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002612 | Congenital hepatic fibrosis |
| HP:0000939 | Osteoporosis |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0000802 | Impotence |
| HP:0003040 | Arthropathy |
| HP:0012093 | Abnormality of endocrine pancreas physiology |
| HP:0001324 | Muscle weakness |
| HP:0000135 | Hypogonadism |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0011031 | Abnormality of iron homeostasis |
