Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Astrocytoma
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An astrocytoma is a tumor that arises from the star-shaped cells (astrocytes) that form the supportive tissue of the brain. Other supportive cells of the ...

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Asphyxiating Thoracic Dystrophy (ATD)
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Asphyxiating thoracic dystrophy (ATD) is a very rare form of skeletal dysplasia that primarily affects the development of the bone structure of the chest ...

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Allergic Bronchopulmonary Aspergillosis
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Allergic bronchopulmonary aspergillosis (ABPA) is a common fungal infection in uncontrolled asthmatics, cystic fibrosis patients, and immunocompromised ...

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Aspergilloma
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An aspergilloma is a fungus ball or mycetoma composed of Aspergillus hyphae along with cellular debris and mucus. It is a noninvasive type of chronic ...

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Aspergillus Infection
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Aspergillus is a ubiquitous saprophyte in nature found in air, soil, and organic matter. Humans normally inhale the spore form of the fungi. However, the ...

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Aspergillosis
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Aspergillosis is a fungal infection caused by Aspergillus, a species of mold that is found all over the world and occurs in the form of chronic pulmonary ...

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Aspartylglycosaminuria
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Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish descent but is also found, even more rarely, in other ...

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Asherson’s Syndrome
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Asherson’s syndrome is an extremely rare autoimmune disorder characterized by the development, over hours, days, or weeks, of rapidly progressive blood clots ...

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Asherman’s Syndrome
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Asherman’s syndrome is a rare, acquired, gynecological disorder of the uterus(intrauterine adhesions or intrauterine synechiae) that occurs when scar tissue ...

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ASAH1- Related Disorders
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ASAH1-related disorders are an extremely rare group of disorders caused by an alteration (mutation) in the ASAH1 gene. Alterations in this gene result in a ...

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Distal Arthrogryposis, Pterygium Syndrome
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Arthrogryposis is also known as distal arthrogryposis, pterygium syndrome is a general or descriptive term for the development of nonprogressive contractures ...

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Arthrogryposis
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Arthrogryposis is also known as distal arthrogryposis, pterygium syndrome is a general or descriptive term for the development of nonprogressive contractures ...

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Martorell Syndrome
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Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive ...

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Occlusive Thromboaortopathy
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Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive ...

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Pulseless Disease
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Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive ...

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Takayasu Arteritis
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Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive ...

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Arteriovenous Malformation
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Arteriovenous malformation (AVM) is a vascular lesion that is a tangle of vessels of varying sizes in which there is one or more direct connections between ...

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Arterial Tortuosity Syndrome
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Arterial tortuosity syndrome (ATS) is an extremely rare genetic congenital connective tissue disorder characterized by lengthening (elongation) and twisting ...

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Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
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Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare genetic autosomal recessive neurometabolic disorder that leads to a severe combined ...

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Argininosuccinic Aciduria
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Argininosuccinic aciduria is a rare genetic disorder characterized by the deficiency or lack of the enzyme argininosuccinate lyase (ASL). This enzyme is one ...

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