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Chylomicron retention disease

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. Estimated Number of People with this Disease. In the U.S., this disease is estimated to be less than.

Category:  Nutrition,  Vitamin Go Health

Mast cell activation syndrome

Mast cell activation syndrome (MCAS) causes a person to have repeated severe allergy symptoms affecting several body systems. In MCAS, mast cells mistakenly release too many chemical agents, resulting in symptoms in the skin, gastrointestinal tract, heart, respiratory, and neurologic systems. Mast cells are present throughout most of our bodies

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Paroxysomal nonkinesigenic dyskinesia

A genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. A benign variant does not cause health problems or disease because the change does not affect how the gene works. A pathogenic variant does cause health problems or disease because the change does affect how the gene works.

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Rh deficiency syndrome

A genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. A benign variant does not cause health problems or disease because the change does not affect how the gene works. A pathogenic variant does cause health problems or disease because the change does affect how the gene works.

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Rhizomelic chondrodysplasia punctata

Make better health decisions by being prepared for the first visit with each member of the medical team. Make informed decisions about health care: Prepare a list of questions and concerns before the appointment; List the most important questions first, not all questions may be answered in the first visit

Category:  Medical Go Health

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The syndrome may be caused by a genetic change in the CREBBP or EP300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p

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Dysfibrinogenemia

Summary. Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen. Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form. Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot.

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About the Disease

A genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. A benign variant does not cause health problems or disease because the change does not affect how the gene works. A pathogenic variant does cause health problems or disease because the change does affect how the gene works.

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Florid cemento-osseous dysplasia

Florid cemento-osseous dysplasia (FCOD) is a condition that occurs in the jaw bone, especially close to where the teeth are formed. People with FCOD develop lesions in the jaw, were spots of normal bone are replaced with a mix of connective tissue and abnormal bone. The lesions are often found in equal numbers and size on both sides of the jaw.

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Idiopathic inflammatory myopathy

Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Symptoms of the condition include muscle weakness, joint pain and fatigue. There are several forms of Idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis

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Carcinoid syndrome

Summary. Carcinoid syndrome refers to a group of symptoms that are associated with carcinoid tumors (rare, slow-growing tumors that occur most frequently in the gastroinestinal tract or lungs). Affected people may experience skin flushing, abdominal pain, diarrhea, difficulty breathing, rapid heart rate, low blood pressure, skin lesions on the

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Childhood hypophosphatasia Genetic and Rare Diseases …

Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early

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