Search Ontology:
Human Disease
hemochromatosis type 2
- Term ID
- DOID:0111034
- Synonyms
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- HFE2
- JHH
- juvenile hemochromatosis
- Definition
- 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. (2)
- References
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- GARD:10092
- ICD10CM:E83.1
- MESH:C537247
- ORDO:79230
- Ontology
- Human Disease ( DOID:0111034 )
- is a type of
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- has subtype
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Genes Involved
Zebrafish Models