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Hemochromatosis, type 2 MeSH Supplementary Concept Data 2025


MeSH Supplementary
Hemochromatosis, type 2
Unique ID
C537247
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537247
Entry Term(s)
Hemochromatosis, Type 2A
Hemochromatosis, juvenile
Juvenile hemochromatosis
Registry Numbers
0
Heading Mapped to
Hemochromatosis / congenital
Frequency
35
Note
An autosomal recessive form of congenital hemochromatosis characterized by severe iron loading and organ failure before 30 years of age. It is characterized by by a triad of HEMOSIDEROSIS; HEART DISEASE; LIVER CIRRHOSIS; DIABETES MELLITUS and abnormal skin pigmentation. Mutations in the HJV gene have been identified. OMIM: 602390
Indexing Information
Hepcidins
Date of Entry
2010/08/25
Revision Date
2015/09/26
Hemochromatosis, type 2 Preferred
Hemochromatosis, Type 2A Narrower
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