monogenic disease

Thesaurus

Noun

1.

monogenic disease - an inherited disease controlled by a single pair of genes 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 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 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 familial hypercholesterolemia - congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis