单词 | monogenic disease |
释义 | monogenic disease (extremely rare) n WORD FAMILY monogenic disease n an inherited disease controlled by a single pair of genes Syn|Hypo|Hyper monogenic disorder SCID, severe combined immunodeficiency, severe combined immunodeficiency disease a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life CF, cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosisthe most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known Gaucher's diseasea rare chronic disorder of lipid metabolism of genetic origin Huntington's chorea, Huntington's diseasehereditary disease; develops in adulthood and ends in dementia Hurler's disease, Hurler's syndrome, dysostosis multiplex, gargoylism, lipochondrodystrophyhereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation neurofibromatosis, von Recklinghausen's diseaseautosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell diseasea congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape Sachs disease, Tay-Sachs, Tay-Sachs disease, infantile amaurotic idiocya hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemiaan inherited form of anemia caused by faulty synthesis of hemoglobin familial hypercholesterolemiacongenital disorder characterized by high levels of cholesterol and early development of atherosclerosis ADA-SCIDSCID resulting from mutation of a gene that codes for adenosine deaminase X-SCID, X-linked SCIDSCID in male children resulting from mutation of a gene that codes for a protein on the surface of T cells that allows them to develop a growth factor receptor Cooley's anaemia, Cooley's anemia, thalassaemia major, thalassemia majora fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder a disease or disorder that is inherited genetically |
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