| has gloss | (noun) an inherited disease controlled by a single pair of genes
monogenic disease, monogenic disorder |
| lexicalization | eng: monogenic disease |
| lexicalization | eng: monogenic disorder |
| subclass of | (noun) a disease or disorder that is inherited genetically
inherited disease, genetic disorder, hereditary condition, inherited disorder, congenital disease, genetic abnormality, genetic defect, hereditary disease, genetic disease |
| has subclass | (noun) 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
severe combined immunodeficiency, SCID, severe combined immunodeficiency disease |
| has subclass | (noun) 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
mucoviscidosis, pancreatic fibrosis, CF, fibrocystic disease of the pancreas, cystic fibrosis |
| has subclass | (noun) a rare chronic disorder of lipid metabolism of genetic origin
Gaucher's disease |
| has subclass | (noun) hereditary disease; develops in adulthood and ends in dementia
Huntington's chorea, Huntington's disease |
| has subclass | (noun) 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
Hurler's syndrome, lipochondrodystrophy, Hurler's disease, dysostosis multiplex, gargoylism |
| has subclass | (noun) autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
von Recklinghausen's disease, neurofibromatosis |
| has subclass | (noun) a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
crescent-cell anemia, sickle-cell anaemia, crescent-cell anaemia, drepanocytic anemia, sickle-cell anemia, drepanocytic anaemia, sickle-cell disease |
| has subclass | (noun) 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
Tay-Sachs disease, Sachs disease, infantile amaurotic idiocy, Tay-Sachs |
| has subclass | (noun) an inherited form of anemia caused by faulty synthesis of hemoglobin
Mediterranean anaemia, thalassemia, Mediterranean anemia, thalassaemia |
| has subclass | (noun) congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
familial hypercholesterolemia |