English > monogenic disease: 1 sense > noun 1, state| Meaning | An inherited disease controlled by a single pair of genes. |
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| Synonym | monogenic disorder |
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| Narrower | Gaucher's disease | A rare chronic disorder of lipid metabolism of genetic origin |
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| Huntington's chorea, Huntington's disease | hereditary disease |
| Hurler's syndrome, Hurler's disease, gargoylism, dysostosis multiplex, lipochondrodystrophy | hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism |
| Tay-Sachs disease, Tay-Sachs, Sachs disease, infantile amaurotic idiocy | A hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe |
| cystic fibrosis, CF, fibrocystic disease of the pancreas, pancreatic fibrosis, mucoviscidosis | The most common congenital disease |
| familial hypercholesterolemia | congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis |
| neurofibromatosis, von Recklinghausen's disease | autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities |
| severe combined immunodeficiency, severe combined immunodeficiency disease, SCID | A congenital disease affecting T cells that can result from a mutation in any one of several different genes |
| sickle-cell anemia, sickle-cell anaemia, sickle-cell disease, crescent-cell anemia, crescent-cell anaemia, drepanocytic anemia, drepanocytic anaemia | A congenital form of anemia occurring mostly in blacks |
| thalassemia, thalassaemia, Mediterranean anemia, Mediterranean anaemia | An inherited form of anemia caused by faulty synthesis of hemoglobin |
| Broader | genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition | A disease or disorder that is inherited genetically |
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