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Meckel-Gruber Syndrome (MKS)
Meckel-Gruber syndrome (MKS) is a rare genetic disorder that is characterized by abnormal development of the kidneys, central nervous system and extremities. Babies born with MKS also have abnormal facial features.
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Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency is a rare, inherited condition that results when this enzyme is missing or poorly functioning. MCAD is most active in the liver and is needed to break down fat for energy when sugar is not available. Normally, fat gets broken down into ketones about 8 hours after fasting (or not eating). Individuals affected with MCAD cannot break down fat to m...
Medulloblastoma is a very rare cancer of the brain. It is, however, the most common malignant brain tumor seen in children. Medulloblastoma was first described in 1925.
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The general definition of anemia is a blood disorder in which the number of red blood cells (RBC) or the amount of hemoglobin, a protein in red blood cells that carries oxygen throughout the body, is below normal.
Megaloblastic Anemia is a general term describing anemias characterized by the presence of large, structurally and visually abnormal, immature red blood cells (megaloblasts). Deficien...
MELAS
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes; Myopathy, Mitochondrial-E
MELAS stands for mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes, which are the four main features of this disease. MELAS is a relatively rare genetic disorder caused by a genetic change (mutation) in the DNA found in mitochondria. Mitochondria are the part of cells responsible for the generation of energy needed for the body. Mitochondria are found in nearly al...
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