monogenic disorder
English Thesaurus
1. an inherited disease controlled by a single pair of genes (noun.state)
| hypernym | : | congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, |
| definition | : | a disease or disorder that is inherited genetically (noun.state) |
| hyponym | : | scid, severe combined immunodeficiency, severe combined immunodeficiency disease, |
| definition | : | 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 (noun.state) |
| hyponym | : | cf, cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis, |
| definition | : | 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 (noun.state) |
| hyponym | : | gaucher's disease, |
| definition | : | a rare chronic disorder of lipid metabolism of genetic origin (noun.state) |
| hyponym | : | huntington's chorea, huntington's disease, |
| definition | : | hereditary disease; develops in adulthood and ends in dementia (noun.state) |
| hyponym | : | dysostosis multiplex, gargoylism, hurler's disease, hurler's syndrome, lipochondrodystrophy, |
| definition | : | 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 (noun.state) |
| hyponym | : | neurofibromatosis, von recklinghausen's disease, |
| definition | : | autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities (noun.state) |
| hyponym | : | crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell disease, |
| definition | : | a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape (noun.state) |
| hyponym | : | infantile amaurotic idiocy, sachs disease, tay-sachs, tay-sachs disease, |
| definition | : | 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 (noun.state) |
| hyponym | : | mediterranean anaemia, mediterranean anemia, thalassaemia, thalassemia, |
| definition | : | an inherited form of anemia caused by faulty synthesis of hemoglobin (noun.state) |
| hyponym | : | familial hypercholesterolemia, |
| definition | : | congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis (noun.state) |
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