Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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DeSanctis–Cacchione Syndrome
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DeSanctis–Cacchione syndrome is a very rare genetic condition in which children inherit defective genes that normally repair skin cell DNA after ultraviolet ...

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Dennie–Marfan Syndrome
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Dennie–Marfan syndrome is a rare neurological complication observed in some infants and young children with congenital syphilis. It is characterized primarily ...

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Dejerine–Roussy Syndrome
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Dejerine–Roussy syndrome, also known as thalamic pain syndrome, is a chronic pain condition that follows a lesion in the thalamus—often due to stroke. This ...

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Dandy–Walker Malformation
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Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome, is a rare congenital brain anomaly characterized by underdevelopment (agenesis or ...

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Daentl–Townsend–Siegel Syndrome
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Daentl–Townsend–Siegel syndrome (also known as Hydrocephalus-Blue Sclerae-Nephropathy syndrome or Familial nephrosis with hydrocephalus and thin skin) is an ...

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D-Glycerate Dehydrogenase (PHGDH) Deficiency
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D-Glycerate dehydrogenase deficiency—also known as 3-phosphoglycerate dehydrogenase (PHGDH) deficiency—is a rare autosomal recessive metabolic disorder in ...

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Cri du Chat Syndrome
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Cri du chat syndrome—also called 5p deletion syndrome—is a rare genetic disorder caused by the loss (deletion) of a portion of the short arm (“p arm”) of ...

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Congenital Myasthenic Syndrome
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Congenital Myasthenic Syndrome (CMS) is a group of inherited disorders that disrupt communication between nerves and muscles at the neuromuscular junction. ...

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Clinically Isolated Syndrome
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Clinically isolated syndrome (CIS) refers to a first neurological episode lasting at least 24 hours that suggests an inflammatory demyelinating event in the ...

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Claude’s Syndrome
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Claude’s syndrome is a rare neurological condition caused by a lesion in the midbrain, most often due to a small infarction in the dorsomedial region supplied ...

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Chudley–Mccullough syndrome (CMS)
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Chudley–McCullough syndrome is a very rare autosomal recessive genetic disorder characterized by early-onset severe to profound bilateral sensorineural hearing ...

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CDK13-Related Disorder
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CDK13-related disorder is a rare, autosomal dominant genetic condition caused by heterozygous, de novo pathogenic variants in the CDK13 gene, which encodes ...

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Chronic Cauda Equina Syndrome (CES)
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Cauda equina syndrome (CES) is the name doctors give to any situation in which the bundle of nerve roots that hang from the end of the spinal cord—the cauda ...

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Carpal Tunnel Syndrome
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Carpal tunnel syndrome (CTS) is the most common nerve-entrapment disorder of the upper limb. It happens when the median nerve – the cable that carries feeling ...

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Brown-Vialetto-Van Laere syndrome (BVVL)
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Brown-Vialetto-Van Laere syndrome (BVVL) is an ultra-rare, inherited nerve-degeneration disorder in which the tiny “delivery trucks” that normally carry ...

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Brown-Séquard Syndrome
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Brown-Séquard syndrome is an incomplete spinal-cord injury in which damage is largely confined to either the left or right half (a “hemisection”) of the cord. ...

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Bromism
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Bromism is the toxic syndrome that develops when bromide ions build up in the body faster than the kidneys can remove them. In the late-19th and early-20th ...

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Brainstem Stroke Syndrome
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A brainstem stroke happens when blood flow to the mid-brain, pons, or medulla is suddenly blocked by a clot or ruptured vessel. Because almost every nerve ...

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Börjeson–Forssman–Lehmann Syndrome (BFLS)
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Börjeson–Forssman–Lehmann syndrome (often shortened to BFLS) is a rare, inherited neuro-endocrine condition marked by intellectual disability, distinctive ...

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Bonnet–Dechaume–Blanc syndrome (BDBS)
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Bonnet–Dechaume–Blanc syndrome (BDBS)—also called Wyburn-Mason syndrome—is an exceedingly rare, non-hereditary vascular disorder in which arteries link ...

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