Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Oliver-McFarlane Syndrome
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Oliver-McFarlane Syndrome (OMS) is a rare genetic disorder characterized by trichomegaly (long eyelashes), intellectual disability, short stature, and other ...

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Odonto-Tricho-Ungual-Digital-Palmar syndrome
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Odonto-Tricho-Ungual-Digital-Palmar syndrome (OTUDPS) is a rare medical condition. It affects many parts of the body. In simple words, it impacts: Teeth ...

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Oculodentodigital Dysplasia
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Oculodentodigital dysplasia (ODDD) is a rare genetic disorder. It mainly affects the eyes (oculo-), teeth (dento-), and fingers (digital). People with this ...

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Delleman-Oorthuys Syndrome
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Delleman-Oorthuys Syndrome (DOS), also known as Oculocerebrocutaneous Syndrome, is a rare genetic disorder. This syndrome affects multiple parts of the body, ...

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Oculocerebrocutaneous Syndrome
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Oculocerebrocutaneous syndrome is a rare genetic condition affecting multiple parts of the body. Oculocerebrocutaneous syndrome affects the eyes, brain, and ...

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Noonan Syndrome
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Noonan Syndrome (NS) is a genetic disorder that affects numerous parts of the body. Let's delve into understanding it in simple terms. A genetic disorder ...

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Congenital Ichthyosiform Erythroderma
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Congenital Ichthyosiform Erythroderma (CIE) is a skin condition present at birth where the skin becomes scaly and red. It's one of several forms of ichthyosis, ...

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Nonbullous Congenital Ichthyosiform Erythroderma
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Nonbullous Congenital Ichthyosiform Erythroderma (NCIE) is a rare skin condition that is present at birth. "Nonbullous" means without blisters, "Ichthyosiform" ...

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Dorfman-Chanarin syndrome (DCS)
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Dorfman-Chanarin syndrome (DCS) is a rare inherited skin disorder. It's characterized by dry, scaly skin and fat accumulation in certain body organs. ...

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Neutral Lipid Storage Disease
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Neutral Lipid Storage Disease (NLSD) is a rare health condition where fats (lipids) accumulate abnormally in cells throughout the body. Instead of being broken ...

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Neurofibromatosis Mixed Type
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Neurofibromatosis mixed type is a genetic disorder that affects the nervous system. The "mixed" suggests it has features of both major types, Type 1 and Type ...

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Neurofibromatosis type 3 (NF3)
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Neurofibromatosis type 3 (NF3) isn't an officially recognized type. There are mainly two known types of Neurofibromatosis: Type 1 (NF1) and Type 2 (NF2). They ...

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Von Recklinghausen’s Disease
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Von Recklinghausen’s disease, also known as Neurofibromatosis Type 1 (NF1), is a genetic disorder that causes tumors to form on nerve tissue. These tumors are ...

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Neurofibromatosis Type 1 (NF1)
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Neurofibromatosis Type 1 (NF1) is a genetic disorder that mainly affects the skin, nerves, and bones, causing tumors to grow on nerve tissue. Types: ...

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Netherton Syndrome
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Netherton Syndrome is a rare genetic skin disorder that affects a person's skin, hair, and immune system. Types of Netherton Syndrome: Classic Netherton ...

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Austin Disease (Mucosulfatidosis)
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Austin Disease, or Mucosulfatidosis, is a genetic disorder that interferes with the body's ability to break down certain molecules. This leads to the ...

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Multiple Sulfatase Deficiency (MSD)
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Multiple Sulfatase Deficiency (MSD) is a rare genetic disorder where the body lacks certain enzymes called sulfatases. This absence hinders the body's ability ...

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Multiple Pterygium Syndrome
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Multiple pterygium syndrome is a rare genetic disorder that affects a person's muscles and joints. This condition can lead to a range of symptoms and ...

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LEOPARD Syndrome
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LEOPARD syndrome is a rare inherited disorder that affects many areas of the body. The name LEOPARD stands for the symptoms often seen with the disorder: ...

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Lentiginosis Profusa Syndrome
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Lentiginosis Profusa Syndrome, a rare genetic disorder, may sound complicated, but we're here to simplify it for you. In this article, we'll break it down into ...

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