Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Neonatal Hyperglycemia
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Neonatal hyperglycemia is usually defined as serum glucose greater than 150 mg/dl (8.3 mmol/L) or whole blood glucose greater than 125 mg/dl (6.9 mmol/L) ...

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Colitis
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Colitis is inflammation of the mucosal lining of the colon which may be acute or chronic. Colitis is common and increasing in prevalence worldwide. Patients ...

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Autoinflammation Infantile Enterocolitis
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Autoinflammation with infantile enterocolitis (AIFEC) is a newly identified and extremely rare inflammatory disorder that manifests early in infancy and ...

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Autoimmune polyglandular syndrome type 1
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Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple ...

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Autoimmune Polyendocrine Syndrome Type II
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Autoimmune polyendocrine syndrome type II, also known as Schmidt syndrome, clusters of endocrine abnormalities is a rare autoimmune disorder in which there ...

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Autoimmune Blistering Diseases
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Autoimmune blistering diseases are a group of disorders in which the body mistakenly attacks healthy tissue, causing blistering lesions that primarily affect ...

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Auditory Neuropathy Spectrum Disorder (ANSD)
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Auditory neuropathy spectrum disorder (ANSD) is a newly described condition defined as a sensorineural hearing loss that affects a person’s ability to hear ...

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Atrioventricular Septal Defect (ASVD)
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Atrioventricular septal defect (ASVD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with ASVDs have ...

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Atrial Septal Defects (ASDs)
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Atrial septal defects (ASDs) are a group of rare disorders of the heart that are present at birth (congenital) and involve a hole in the wall (septum) that ...

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Atransferrinemia
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Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic ...

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ATR-16 Syndrome
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ATR-16 syndrome is an extremely rare genetic disorder in which affected individuals have a large loss of genetic material (monosomy) on chromosome 16 in ...

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Ataxia With Vitamin E Deficiency (AVED)
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Ataxia with vitamin E deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements ...

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Ataxia Telangiectasia
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Ataxia-telangiectasia (AT) is also known as (Louis-Bar Syndrome) a complex is a rare autosomal recessive genetic neurodegenerative disorder that is ...

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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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