hemochromatosis type 2
Information
- Disease name
- hemochromatosis type 2
- Disease ID
- DOID:0111034
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1170/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10205270]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
- Disase is a (Disease Ontology)
- DOID:2352
- Cross Reference ID (Disease Ontology)
- GARD:10092
- Cross Reference ID (Disease Ontology)
- ICD10CM:E83.1
- Cross Reference ID (Disease Ontology)
- MESH:C537247
- Cross Reference ID (Disease Ontology)
- ORDO:79230
- Exact Synonym (Disease Ontology)
- HFE2
- Exact Synonym (Disease Ontology)
- JHH
- Exact Synonym (Disease Ontology)
- juvenile hemochromatosis
- OrphaNumber from OrphaNet (Orphanet)
- 79230