Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Apert Syndrome
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Apert syndrome is a rare autosomal dominant inherited craniosynostosis genetic condition that is apparent at birth through the premature fusion of coronal ...

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AP-4-Associated Hereditary Spastic Paraplegia
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AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a group of slowly-progressing neurodegenerative disorders that generally present with global ...

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Antley-Bixler Syndrome
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Antley-Bixler syndrome is a rare genetic disorder that can cause structural changes to the skull, bones of the face, and other skeletal abnormalities. It is ...

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Antithrombin Deficiency
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Antithrombin deficiency is a blood disorder characterized by the tendency to form clots in the veins (thrombosis). An inherited tendency to thrombosis is ...

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Antisynthetase Syndrome
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Antisynthetase syndrome is a rare, chronic, autoimmune disorder characterized by Interstitial Lung Disease (ILD), inflammatory myositis, fever, Raynaud’s ...

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Antiphospholipid Syndrome (APS)
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Antiphospholipid syndrome (APS) is a rare autoimmune multisystemic disorder characterized by the presence of antiphospholipid antibodies in the setting of ...

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Gillespie Syndrome
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Gillespie syndrome, also known as Aniridia, cerebellar ataxia, and mental deficiency, is an extremely rare inherited disorder that is characterized by the ...

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Aniridia Cerebellar Ataxia Mental Deficiency
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Aniridia, cerebellar ataxia, and mental deficiency, also known as Gillespie syndrome, is an extremely rare inherited disorder that is characterized by the ...

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Aniridia
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Aniridia is a rare condition characterized by a progressive fibrotic membrane within the anterior chamber that occurs after ocular surgery or by abnormal ...

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Angioimmunoblastic T-cell lymphoma (AITL)
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Angioimmunoblastic T-cell lymphoma (AITL, sometimes misspelled AILT, formerly known as angioimmunoblastic lymphadenopathy with dysproteinemia ) is a rare ...

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Angelman Syndrome
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Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near ...

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Neural Tube Defects
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Neural tube defects are the most common severe central nervous system anomalies, only second to cardiovascular abnormalities resulting in congenital ...

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Anencephaly
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Anencephaly is a term that refers to the incomplete development of the brain, skull, and scalp and is part of a group of birth defects called neural tube ...

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Intrinsic Factor
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The intrinsic factor (IF) is a glycoprotein produced by the parietal cells (oxyntic cells) located at the gastric body and fundus. Intrinsic factor plays a ...

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Pernicious Anemia
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Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, from a deficiency of cobalamin ...

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Myelophthisic Anemia
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Myelophthisic anemia is anemia characterized by the presence of immature erythrocytes in the peripheral blood due to the infiltration (crowding out) of the ...

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Megaloblastic Anemia
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Megaloblastic anemia is a heterogeneous group of macrocytic anemias characterized by the presence of large red blood cell precursors called megaloblasts in ...

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Autoimmune Hemolytic Anemia
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Autoimmune hemolytic anemia is a rare disorder characterized by the premature destruction (hemolysis) of red blood cells at a rate faster than they can be ...

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Sickle Cell Anemia
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Sickle cell anemia is an inherited disorder of the globin chains that causes hemolysis and chronic organ damage. This activity reviews the pathophysiology, ...

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Chronic Anemia
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Chronic anemia also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including chronic ...

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