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Metadata
ID DOID:0111034
Name hemochromatosis type 2
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.
https://www.ncbi.nlm.nih.gov/books/NBK1170/, https://www.ncbi.nlm.nih.gov/pubmed/10205270
Xrefs

GARD:10092

ICD10CM:E83.1

MESH:C537247

ORDO:79230

Subsets

DO_rare_slim

Synonyms

HFE2 [EXACT]

JHH [EXACT]

juvenile hemochromatosis [EXACT]

Parent Relationships

is_a hemochromatosis

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