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hemochromatosis type 2

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Disease Ontology 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.
Mondo Term and Equivalent IDs
MONDO:0019257:  hemochromatosis type 2
GARD:0010092: 
MESH:C537247: 
Orphanet:79230: 
SCTID:50855007: 
UMLS:CN205842: