Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Acquired Neuromyotonia
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Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle ...

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Lipodystrophy Syndromes
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Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical ...

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Lipodystrophies
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Lipodystrophies are conditions that share the common finding of a reduction in subcutaneous fat. There are multiple subtypes of lipodystrophy, which may be ...

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Acquired Lipodystrophy
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Acquired lipodystrophy is a general term for types of lipodystrophy that are not inherited, but rather acquired at some point during life. Acquired ...

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Acquired Hemophilia
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Acquired hemophilia (AH) is a rare autoimmune disorder characterized by bleeding that occurs in patients with no personal or family history of diseases ...

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Acquired Aplastic Anemia
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Acquired aplastic anemia is a rare, serious blood disorder, due to the failure of the bone marrow fails to produce blood cells. Bone marrow is the spongy ...

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Acoustic Neuroma
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An acoustic neuroma is a type of non-cancerous (benign) brain tumor. It's also known as a vestibular schwannoma. A benign brain tumor is a growth in the ...

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Acidemia, Methylmalonic
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The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine, ...

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Acid Sphingomyelinase Deficiency (ASMD)
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Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is ...

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Achondroplasia
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Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. ...

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Achondrogenesis
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Achondrogenesis is a group of severe disorders that affect the cartilage and bone development. These conditions are characterized by a small body, short ...

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Acanthosis Nigricans
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Acanthosis nigricans (AN) is a skin condition characterized by abnormally increased coloration (hyperpigmentation) and “velvety” thickening (hyperkeratosis) ...

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Dipetalonemiasis
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Dipetalonemiasis/Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a ...

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Ablepharon Macrostomia Syndrome (AMS)
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Ablepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide ...

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Klinefelter Syndrome (47, XXY)
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Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47, XXY karyotype. The extra X ...

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Ulnar Mammary Syndrome
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Ulnar mammary syndrome is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with ...

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Jacob’s Syndrome
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Jacob’s syndrome—also called 47,XYY syndrome—is a genetic condition that affects boys and men who have one extra Y chromosome in their cells. Most males have ...

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Post-Acute COVID-19 Syndrome (PACS)
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Post-Acute COVID-19 Syndrome (PACS)—also called Long COVID and PASC (post-acute sequelae of SARS-CoV-2 infection). This is the name most guidelines and ...

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Inflammatory Markers – Types, Indications, Procedure
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The inflammatory markers are a disparate set of medical tests that are often prescribed by doctors to identify or investigate the infection, inflammation, ...

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Autoinflammatory Syndrome – Causes, Symptoms, Diagnosis, Treatment
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Autoinflammatory syndromes are a group of disorders characterized by recurrent episodes of inflammation due to an abnormality of the innate immune system, ...

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