Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
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:0001744 | Splenomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001369 | Arthritis |
| HP:0001638 | Cardiomyopathy |
| HP:0000141 | Amenorrhea |
| HP:0011462 | Young adult onset |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0000789 | Infertility |
| HP:0001635 | Congestive heart failure |
| HP:0000027 | Azoospermia |
