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Huntington Disease
Huntington Chorea
Huntington disease (HD) is an inherited, progressive disorder of the central nervous system. It is characterized by a variety of symptoms including problems with voluntary and involuntary movement, psychiatric disturbances, and cognitive decline.
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Hurler Syndrome
Mucopolysaccharidosis Type I
Hurler Syndrome is a genetic disorder caused by a missing or poorly functioning enzyme named α-L-iduronidase. This enzyme is located in small sacs called lysosomes. Lysosomes are the part of a cell that has the important function of breaking down old proteins and carbohydrates. Because there is a lack of α-L-iduronidase in Hurler Syndrome, certain molecules named glycosaminoglycans be...
Hyper IgD Syndrome (HIDS)
Periodic Fever Syndrome
Hyper IgD is a rare inherited disorder that primarily causes recurrent attacks of fever, along with joint inflammation, tiredness, headache, muscle aches, and stomachache.
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Hyper IgE Syndrome
Job Syndrome
A suspected genetic defect that results in the production of high levels of the antibody immunoglobulin E (IgE), causing serious skin and lung infections as well as eczema, a chronic condition characterized by scaly and itching rashes.
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Hyper IgM
X-linked Hyper IgM syndrome
People with Hyper IgM (HIGM) syndrome have a defect or deficiency of their immune system which makes them susceptible to severe recurring infections, unusual kinds of pneumonias, anemia and liver disease. These patients have elevated levels of the antibody IgM but usually have reduced levels of the other types of antibodies which are necessary for proper immune system function.
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Full disease list by letter:
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G |
H |
I |
J |
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M |
N |
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P |
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