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H63D syndrome is a very rare clinical phenotype based on a homozygous mutation of the HFE gene.This mutation is associated with diverse health issues, however H63D syndrome is the only known specific expression of a homozygous HFE-H63D mutation to date.
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Isolated 17,20-lyase deficiency; 202110; CYP17A1
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
The suspect in the New Orleans attack that killed 14 people on New Year's Day is believed to have acted alone in a "premeditated and evil act," the FBI has said. The latest information is counter ...
Former Rep. Lee Zeldin, Trump's pick to lead the EPA, made $186,000 from paid op-eds and speeches. Some of those op-eds criticized climate policies and ESG. The former NY congressman also made ...
The U.S Capitol is seen after U.S, President-elect Donald Trump called on U.S. lawmakers to reject a stopgap bill to keep the government funded past Friday, raising the likelihood of a partial ...
XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined immunodeficiency: XXX syndrome ...