Vi fant 1 definisjoner av monogenic disorder på engelsk.
Noun |
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| monogenic disorder - an inherited disease controlled by a single pair of genes | ||
| monogenic disease | ||
| 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 | ||
| 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 | ||
| cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis, cf the 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 disease a rare chronic disorder of lipid metabolism of genetic origin | ||
| huntington's chorea, huntington's disease hereditary disease; develops in adulthood and ends in dementia | ||
| dysostosis multiplex, gargoylism, hurler's disease, hurler's syndrome, lipochondrodystrophy hereditary 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 disease autosomal 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 disease a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape | ||
| infantile amaurotic idiocy, sachs disease, tay-sachs, tay-sachs disease a 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, thalassemia an inherited form of anemia caused by faulty synthesis of hemoglobin | ||