hemochromatosis type 1
Information
- Disease name
- hemochromatosis type 1
- Disease ID
- DOID:0111029
- Description
- "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8696333]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01810965 | Completed | N/A | Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis | June 3, 2013 | April 19, 2019 |
- Disase is a (Disease Ontology)
- DOID:2352
- Cross Reference ID (Disease Ontology)
- GARD:10417
- Cross Reference ID (Disease Ontology)
- ICD10CM:E83.1
- Cross Reference ID (Disease Ontology)
- MIM:235200
- Cross Reference ID (Disease Ontology)
- ORDO:465508
- Exact Synonym (Disease Ontology)
- HFE1
- Exact Synonym (Disease Ontology)
- symptomatic form of classic hemochromatosis
- Exact Synonym (Disease Ontology)
- symptomatic form of hemochromatosis type 1
- Exact Synonym (Disease Ontology)
- symptomatic form of HFE-related hereditary hemochromatosis