Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Bone Fragility Craniosynostosis-Proptosis-Hydrocephalus Syndrome
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Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome is an extremely rare genetic disease that mainly affects bones of the skull and the whole ...

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Cole-Carpenter Syndrome
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Cole-Carpenter syndrome is an extremely rare genetic bone disease. It affects less than a few dozen people in the world. In this condition, the bones are weak ...

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CRLF1-Related Cold-Induced Sweating Syndrome
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CRLF1-related cold-induced sweating syndrome, including Crisponi syndrome, is a very rare genetic disease that affects how the body controls temperature, ...

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Cold-Induced Sweating Syndrome 1 (CISS1)
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Cold-induced sweating syndrome 1 (CISS1) is a very rare genetic disease that affects how the body controls temperature and how the nerves and face develop. In ...

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Sohar-Crisponi Syndrome
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Sohar-Crisponi syndrome is a very rare genetic disease that mainly affects babies and children. It belongs to a family of problems called cold-induced sweating ...

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Crisponi Syndrome
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Crisponi syndrome is a very rare genetic disease. It starts in newborn babies. The baby has sudden strong muscle contractions, mainly in the face, neck, and ...

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Cold-Induced Sweating Syndrome (CISS)
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Cold-induced sweating syndrome (CISS) is a very rare genetic disease. It mainly affects how the body controls temperature, sweating, face muscles, and bones. ...

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Chronic Cold Agglutinin Disease
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Chronic cold agglutinin disease is a long-lasting blood disease where your immune system wrongly attacks your own red blood cells, mainly when your body or ...

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Cold Agglutinin Disease (CAD)
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Cold agglutinin disease (CAD) is a rare kind of autoimmune hemolytic anemia. This means your immune system makes a wrong antibody that attacks your own red ...

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Cohen-Gibson Syndrome
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Cohen-Gibson syndrome is a very rare genetic condition. It starts before birth or in early childhood. Children with this syndrome usually grow faster and ...

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Cohen Syndrome
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Cohen syndrome is a very rare genetic condition that affects many parts of the body, especially growth, learning, eyes, blood cells, and body shape. It usually ...

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Cognitive Impairment – Coarse Facies – Heart Defects – Obesity – Pulmonary Involvement – Short Stature – Skeletal Dysplasia Syndrome
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Cognitive impairment – coarse facies – heart defects – obesity – pulmonary involvement – short stature – skeletal dysplasia syndrome is a very rare genetic ...

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Cogan Syndrome
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Cogan syndrome is a rare disease where the body’s own defense system (the immune system) wrongly attacks parts of the eyes and inner ears. This attack causes ...

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Component of Oligomeric Golgi Complex 8 Congenital Disorder of Glycosylation (COG8-CDG)
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Component of oligomeric Golgi complex 8 congenital disorder of glycosylation (often shortened to COG8-CDG) is a very rare inherited disease that affects how ...

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Carbohydrate Deficient Glycoprotein Syndrome Type IIh
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Carbohydrate deficient glycoprotein syndrome type IIh is a very rare inherited metabolic disease. It belongs to a group of diseases called congenital disorders ...

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COG8-Congenital Disorder of Glycosylation (COG8-CDG)
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COG8-congenital disorder of glycosylation (COG8-CDG) is a very rare genetic disease. It happens when the COG8 gene does not work in the normal way. This gene ...

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Component of Oligomeric Golgi Complex 7 Congenital Disorder of Glycosylation (COG7-CDG)
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Component of oligomeric Golgi complex 7 congenital disorder of glycosylation (COG7-CDG) is a very rare genetic disease that affects how the body adds sugar ...

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Carbohydrate Deficient Glycoprotein Syndrome Type IIe
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Carbohydrate deficient glycoprotein syndrome type IIe is an extremely rare inherited disease of sugar processing inside the body’s cells. In today’s names it ...

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COG7-Congenital Disorder of Glycosylation (COG7-CDG)
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COG7-congenital disorder of glycosylation (COG7-CDG) is a very rare inherited disease that starts before birth and affects almost every part of the body. In ...

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Component of Oligomeric Golgi Complex 6–Congenital Disorder of Glycosylation (COG6-CDG)
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Component of oligomeric Golgi complex 6–congenital disorder of glycosylation (short name COG6-CDG) is a very rare genetic disease that affects how sugar chains ...

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