Rarediseases.info.nih.gov

Ehlers-Danlos syndromes

WebEhlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The …

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URL: rarediseases.info.nih.gov

Rh deficiency syndrome

(2 days ago) WebImproving Diagnosis in Health Care. Washington, DC: The National Academies Press. U.S. Department of Health and Human Services, Office of Disease Prevention and Health …

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About the Disease

(9 days ago) WebSummary. Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from …

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Mast cell activation syndrome

(9 days ago) WebMast cell activation syndrome (MCAS) causes a person to have repeated severe allergy symptoms affecting several body systems. In MCAS, mast cells mistakenly release too …

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Glucose-6-phosphate dehydrogenase deficiency

(3 days ago) WebX-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Recessive means that when there are …

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Familial hemophagocytic lymphohistiocytosis

(2 days ago) WebHemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). Symptoms may include …

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Hyper-IgD syndrome

(7 days ago) WebHyper IgD syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. It is considered an auto-inflammatory disease, with recurrent episodic …

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Stiff person syndrome

(Just Now) WebStiff person syndrome (SPS) is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. Symptoms may include extreme muscle …

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Getting a Diagnosis

(1 days ago) WebOnce your health care provider gathers some basic information such as your medical history and any previous diagnoses, they will perform a physical exam. During the …

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Hypermobile Ehlers-Danlos syndrome

(3 days ago) WebHypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe …

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Fibrous dysplasia

(6 days ago) WebFibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones …

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Lactate dehydrogenase B deficiency

(3 days ago) WebOnce your health care provider gathers some basic information such as your medical history and any previous diagnoses, they will perform a physical exam. During the …

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