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MONOGENIC DISORDER
Pronunciation (US): | (GB): |
I. (noun)
Sense 1
Meaning:
An inherited disease controlled by a single pair of genes
Synonyms:
monogenic disease; monogenic disorder
Classified under:
Nouns denoting stable states of affairs
Hypernyms ("monogenic disorder" is a kind 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)
Hyponyms (each of the following is a kind of "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)
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)