Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Anemia of Chronic Disease
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Anemia of chronic disease, also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including ...

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Andersen-Tawil Syndrome
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Andersen-Tawil syndrome is sometimes referred to as long QT syndrome 7 because some individuals in early reports of the disorder had a prolonged QT ...

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Glycogen Storage Disease (GSD)
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Glycogen Storage Disease (GSD) belongs to a group of rare genetic hereditary metabolicĀ disorders of glycogen metabolism, known as glycogen storage diseases ...

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Andersen Disease
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Andersen disease belongs to a group of rare genetic hereditary metabolicĀ disorders of glycogen metabolism, known as glycogen storage diseases is ...

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Anaplastic Astrocytoma
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Anaplastic astrocytoma is a rare malignant brain tumor. Astrocytomas are tumors that develop from certain star-shaped brain cells called astrocytes. ...

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Amyotrophic Lateral Sclerosis (ALS)
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Amyotrophic lateral sclerosis (ALS) also known as ā€œLou Gehrig disease, is a neurodegenerative disorder of the motor neurons characterized by the ...

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Amyloidosis
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Amyloidosis is a rare heterogeneous acquired or hereditary systemic group of disorders caused by a build-up of an abnormal protein called amyloid in organs ...

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Amniotic Fluid Embolism (AFE)
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Amniotic fluid embolism (AFE) is an extremely rare, but life-threatening obstetric emergency characterized by sudden cardiorespiratory collapse and ...

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Amniotic Band Syndrome
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Amniotic band syndrome is a well-known condition potentially associated with a variety of different birth defects that comprises various congenital ...

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Amelogenesis Imperfecta
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Amelogenesis imperfecta (AI) refers to a group of rare, inherited disorders characterized by abnormal incomplete enamel formation or calcification of the ...

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Alveolar Capillary Dysplasia
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Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV, OMIM# 265380) is a rare disorder present at birth (congenital). Infants ...

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Alternating Hemiplegia of Childhood (AHC)
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Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental transient episode of hemiplegia alternating in the laterality or quadriparesis, ...

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Alstrƶm Syndrome
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Alstrƶm syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The ...

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Alport Syndrome
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Alport syndrome is a rare genetic also known as hereditary nephritis is a genetic disorder arising from the mutations in the genes encoding alpha-3, ...

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Alpha-Mannosidosis
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Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a ...

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Alpha-1 Antitrypsin Deficiency (A1AD)
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Alpha-1 antitrypsin deficiency (A1AD) is a clinically under-recognized hereditary genetic disorder that causes the defective production of alpha-1 ...

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Alpha Thalassemia X-linked Intellectual Disability (ATR-X) Syndrome
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Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome ...

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Alpha Thalassemia
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Alpha thalassemia is a general term for a group of inherited blood disorders characterized by reduced or absent production of alpha-globin subunits, ...

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Alpers Disease
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Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease associated ...

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Alopecia areata
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Alopecia areata is a form of alopecia that impacts hair follicles, nails, and rarely, the retinal pigment epithelium and typically presents with round ...

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