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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6NW40 | Repulsive guidance molecule B | |
| Q6ZVN8 | Hemojuvelin | |
| Q96B86 | Repulsive guidance molecule A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001254 | Lethargy |
| HP:0012463 | Elevated transferrin saturation |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0000819 | Diabetes mellitus |
| HP:0003281 | Increased circulating ferritin concentration |
| HP:0001369 | Arthritis |
| HP:0003452 | Increased circulating iron concentration |
| HP:0000141 | Amenorrhea |
| HP:0000027 | Azoospermia |
| HP:0002240 | Hepatomegaly |
