monogenic disorder

1. is a type of: 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
   subtypes:

   • 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 fibrosis - the most common hereditary 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
   same as: monogenic disease

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