Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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X-linked Dominant Coffin-Lowry Syndrome
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X-linked dominant Coffin-Lowry syndrome is a rare genetic condition that affects how the brain, bones, and other body systems grow and work. It is present from ...

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Coffin-Lowry Syndrome
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Coffin-Lowry syndrome is a rare genetic condition that affects many parts of the body, especially the brain, face, bones, heart, and muscles. It usually causes ...

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Codas Syndrome
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Codas syndrome is a very rare genetic disease that affects many parts of the body, especially the brain, eyes, teeth, ears, and bones. Doctors use the short ...

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Cockayne Syndrome Type 3
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Cockayne syndrome type 3 is a very rare, inherited disease that affects many parts of the body, especially the brain, eyes, ears, skin, and growth. It belongs ...

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Cockayne Syndrome Type 2
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Cockayne syndrome type 2 is a very rare, very severe genetic disease that starts at birth or even before birth. It affects many parts of the body, especially ...

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Cockayne Syndrome Caused by Mutation in ERCC8
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Cockayne syndrome caused by mutation in ercc8 is a rare genetic disease that affects many parts of the body, especially the brain, eyes, ears, skin, and ...

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Classical Cockayne Syndrome Type 1
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Classical Cockayne syndrome type 1 is a rare inherited disease. It mainly affects how a child grows and how the brain, eyes, ears, skin, and other organs work ...

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Lissencephaly Type 5
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Lissencephaly type 5 (often written as LIS5) is a very rare genetic brain problem where the surface of the brain does not form normal folds and grooves before ...

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Cobb Syndrome
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Cobb syndrome is a very rare condition where a child or adult has abnormal blood vessels in the skin and in the spine in the same body segment (metamere). ...

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Cerebroretinal Microangiopathy with Calcifications and Cysts
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Cerebroretinal microangiopathy with calcifications and cysts (often shortened to CRMCC) is a very rare inherited disorder that mainly affects the brain and the ...

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Gentile Syndrome
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Gentile syndrome is a very rare genetic disease. It belongs to the same family of diseases as Joubert syndrome, which affects the brain, and congenital hepatic ...

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Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis
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Cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis– is another name for a rare genetic condition called ...

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COACH Syndrome
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COACH syndrome is a very rare genetic disease that mainly affects the brain, liver, eyes, and sometimes the kidneys. It is an autosomal recessive condition, ...

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Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome
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Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome is usually called CLOVES syndrome. It is a very rare birth ...

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Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome
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Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome is usually called CLOVES syndrome. It is a very rare birth ...

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CLOVES Syndrome
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CLOVES syndrome is a very rare disease where some parts of the body grow too much and in an uneven way. It usually starts before birth, so the baby is born ...

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Omphalocele–Cloacal Exstrophy–Imperforate Anus–Spinal Defect Syndrome
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Omphalocele–cloacal exstrophy–imperforate anus–spinal defect syndrome is usually called OEIS complex. It is a very rare birth condition where a baby is born ...

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Wallis-Zieff-Goldblatt Syndrome
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Wallis-Zieff-Goldblatt syndrome is an extremely rare genetic bone growth problem. It mainly affects the bones near the shoulders and the upper arms, and also ...

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McPherson-Clemens Syndrome
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McPherson-Clemens syndrome (also called cleft lip/palate–intestinal malrotation–cardiopathy syndrome) is an extremely rare genetic disorder that affects many ...

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Zlotogora-Zilberman-Tenenbaum Syndrome
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Zlotogora-Zilberman-Tenenbaum syndrome is an extremely rare genetic condition in which the outer layer of the body (skin, hair, nails, teeth, some glands) and ...

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