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Kategori: Diseases & Conditions

Abetalipoproteinemia

Synonyms of Abetalipoproteinemia ABL Bassen-Kornzweig Syndrome Low Density B-lipoprotein Deficiency Microsomal Triglyceride Transfer Protein Deficiency MTP Deficiency Disorder Subdivisions General DiscussionAbetalipoproteinemia is a rare inherited disorder of fat metabolism. Abnormalities in fat metabolism result in malabsorption of dietary fat and various essential vitamins. Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood […]

Acidemia, Isovaleric

Synonyms of Acidemia, Isovaleric Isovaleric Acidaemia Isovaleric Acid CoA Dehydrogenase Deficiency Isovalericacidemia Isovaleryl CoA Carboxylase Deficiency IVA Disorder Subdivisions General DiscussionIsovaleric Acidemia is a hereditary metabolic disorder. It is characterized by a deficiency of the enzyme isovaleryl CoA dehydrogenase. The disorder occurs in both an acute and a chronic intermittent form. In the acute form […]

Acromegaly

Synonyms of Acromegaly Marie Disease Disorder Subdivisions General DiscussionThe information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more detailed information about this disorder, please contact your personal physician and/or the agencies listed in the Resources […]

Adjustment disorder

A maladaptive emotional or behavioral reaction to a stressful event or change in a child?s life, such as a family move, divorce, loss of a pet, or birth of a sibling. The reaction must occur within three months of the stressful event to be considered an adjustment disorder. Because adjustment disorders are a reaction to […]

Aicardi Syndrome

Synonyms of Aicardi Syndrome Agenesis of Corpus Callosum With Chorioretinitis Abnormality Agenesis of Corpus Callosum With Infantile Spasms And Ocular Anomalies Callosal Agenesis and Ocular Abnormalities Chorioretinal Anomalies with ACC Corpus Callosum, Agenesis of and Chorioretinal Abnormality Disorder Subdivisions General DiscussionAicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are […]

Allan Herndon Syndrome

Synonyms of Allan Herndon Syndrome AHDS Allan-Herndon-Dudley Mental Retardation Allan-Herndon-Dudley Syndrome X-Linked Mental Retardation with Hypotonia Disorder Subdivisions General DiscussionAllan-Herndon syndrome is an extremely rare inherited disorder that may be characterized by severe mental retardation, an impaired ability to form words and speak clearly (dysarthria), diminished muscle tone (hypotonia), and/or movement abnormalities. With the exception […]

Alveolar Soft Part Sarcoma

Synonyms of Alveolar Soft Part Sarcoma Alveolar sarcoma of soft parts ASPS ASP sarcoma Disorder Subdivisions General DiscussionAlveolar soft part sarcoma (ASPS) is a rare sarcoma (malignant tumor of connective tissue) of an unclear cause. It is among the least common sarcomas, representing 0.2-1 percent of large studies of soft tissue sarcomas. Since there are […]

American Diabetes Association

The nation?s leading nonprofit health organization providing diabetes research, information, and advocacy. The mission of the organization is to prevent and cure diabetes and to improve the lives of all people affected by diabetes. To fulfill this mission, the American Diabetes Association (ADA) funds research, publishes scientific findings, provides information and other services to people […]

Anal Fistula

What is an anal fistula? Anal fistula, a rare condition, is a chronically inflamed, abnormal tunnel between the anal canal and the outer skin of the anus. It often drains watery pus, which can irritate the outer tissues and cause itching and discomfort. How does it occur? An anal fistula usually results from an infection […]

Anemia, Megaloblastic

Synonyms of Anemia, Megaloblastic Folate Deficiency Anemia Folic Acid Deficiency Anemia Vitamin B12 Deficiency Anemia Disorder Subdivisions General DiscussionMegaloblastic anemia is a condition in which the bone marrow produces unusually large, structurally abnormal, immature red blood cells (megaloblasts). Bone marrow, the soft spongy material found inside certain bones, produces the main blood cells of the […]