Rx Blood, Metabolism, and Infectious Diseases (A – Z)
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Ciliary Neurotrophic Factor Receptor-Related Disorder
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Ciliary neurotrophic factor receptor-related disorder is another name for a very rare genetic disease called cold-induced sweating syndrome (CISS). It mainly ...

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Iris Nevus Syndrome
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Iris nevus syndrome is a rare eye disease where the front layer of the eye (the clear cornea and the colored iris) is changed by a thin, abnormal cell layer ...

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COG5-Congenital Disorder of Glycosylation (COG5-CDG)
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COG5-congenital disorder of glycosylation (COG5-CDG) is a very rare genetic disease. It happens when the COG5 gene does not work properly. This gene helps a ...

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COG1 Congenital Disorder of Glycosylation (COG1-CDG)
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COG1 congenital disorder of glycosylation (COG1-CDG) is a very rare inherited disease that affects how the body adds sugar chains (glycans) onto proteins ...

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Carbohydrate-Deficient Glycoprotein Syndrome Type IIg
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Carbohydrate-deficient glycoprotein syndrome type IIg is now usually called COG1-congenital disorder of glycosylation (COG1-CDG, CDG-IIg). It is an ultra-rare, ...

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Coenzyme Q10 Deficiency Disease
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Coenzyme Q10 deficiency disease is a rare health problem where the body does not have enough coenzyme Q10 (also called CoQ10 or ubiquinone). CoQ10 is a natural ...

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San Joaquin Valley Fever
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San Joaquin Valley fever is another name for Valley fever, a lung infection caused by a fungus called Coccidioides. A fungus is a tiny living thing, like mold, ...

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Primary Extrapulmonary Coccidioidomycosis
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Primary extrapulmonary coccidioidomycosis is an infection caused by a fungus called Coccidioides that shows itself first outside the lungs, such as in the ...

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Posadas-Wernicke Disease
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Posadas-Wernicke disease is another name for coccidioidomycosis, also called valley fever. It is an infection caused by a fungus called Coccidioides that lives ...

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Desert Rheumatism
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Desert rheumatism is a group of symptoms that happen when a person’s body reacts strongly to a lung infection caused by a soil fungus called Coccidioides. ...

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Desert Fever
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Desert fever is an infection caused by a tiny fungus that lives in dry, dusty soil in some parts of the Americas. When the soil is disturbed, the fungus breaks ...

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Coccidioides Immitis Infectious Disease
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Coccidioides Immitis Infectious Disease is a lung disease caused by a fungus that lives in dry soil in some parts of the Americas. When the soil is disturbed, ...

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Coccidioides Immitis Disease
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Coccidioides immitis disease is a fungal infection that doctors call coccidioidomycosis or “Valley fever.” It happens when tiny spores of the fungus ...

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California Disease
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California disease is another name for coccidioidomycosis, also called Valley fever. It is an infection caused by a fungus called Coccidioides that lives in ...

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Deficiency of Methylcysteine Synthase
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Deficiency of methylcysteine synthase is another name for cystathionine beta-synthase (CBS) deficiency, also called classic homocystinuria. In this disease, a ...

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Deficiency of Beta-Thionase
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Deficiency of beta-thionase is almost always talking about beta-ketothiolase deficiency, also called mitochondrial acetoacetyl-CoA thiolase deficiency or ACAT1 ...

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Deficiency of Uridine Triphosphate-Hexose-1-Phosphate Uridylyltransferase
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Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (also called galactose-1-phosphate uridylyltransferase, GALT) is a rare genetic ...

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Deficiency of Uridine Diphosphate-Glucose–Hexose-1-Phosphate Uridylyltransferase
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Deficiency of uridine diphosphate-glucose–hexose-1-phosphate uridylyltransferase means that the body is missing or has very low activity of an enzyme called ...

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Deficiency of UDP-Glucose–Hexose-1-Phosphate Uridylyltransferase
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Deficiency of UDP-glucose–hexose-1-phosphate uridylyltransferase means the body is missing or has very low activity of an enzyme called galactose-1-phosphate ...

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CIDEC-Related Familial Partial Lipodystrophy
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CIDEC-related familial partial lipodystrophy is a very rare inherited disease where body fat is not spread in a normal way. In this condition, fat under the ...

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