English > genetic disease: 1 sense > noun 1, state| Meaning | A disease or disorder that is inherited genetically. |
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| Synonyms | genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition |
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| Narrower | Fanconi's anemia, Fanconi's anaemia, congenital pancytopenia | A rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow |
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| Hirschsprung's disease, congenital megacolon | congenital condition in which the colon does not have the normal network of nerves |
| McArdle's disease | An inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle |
| Spielmeyer-Vogt disease, juvenile amaurotic idiocy | A congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death |
| abetalipoproteinemia | A rare inherited disorder of fat metabolism |
| achondroplasia, achondroplasty, osteosclerosis congenita, chondrodystrophy | An inherited skeletal disorder beginning before birth |
| autosomal dominant disease, autosomal dominant disorder | A disease caused by a dominant mutant gene on an autosome |
| autosomal recessive disease, autosomal recessive defect | A disease caused by the presence of two recessive mutant genes on an autosome |
| congenital afibrinogenemia | A rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma |
| dwarfism, nanism | A genetic abnormality resulting in short stature |
| hepatolenticular degeneration, Wilson's disease | A rare inherited disorder of copper metabolism |
| hyperbetalipoproteinemia | A genetic disorder characterized by high levels of beta-lipoproteins and cholesterol |
| ichthyosis | Any of several congenital diseases in which the skin is dry and scaly like a fish |
| inborn error of metabolism | Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism |
| lactose intolerance, lactase deficiency, milk intolerance | congenital disorder consisting of an inability to digest milk and milk products |
| maple syrup urine disease, branched chain ketoaciduria | An inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup |
| monogenic disorder, monogenic disease | An inherited disease controlled by a single pair of genes |
| mucopolysaccharidosis | Any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues |
| muscular dystrophy, dystrophy | Any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles |
| nevoid elephantiasis, pachyderma | thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction |
| oligodactyly | congenital condition in which some fingers or toes are missing |
| oligodontia | congenital condition in which some of the teeth are missing |
| osteopetrosis, Albers-Schonberg disease, marble bones disease | An inherited disorder characterized by an increase / increase / increase in bone density |
| otosclerosis | hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness |
| polygenic disorder, polygenic disease | An inherited disease controlled by several genes at once |
| porphyria | A genetic abnormality of metabolism causing abdominal pains and mental confusion |
| Broader | disease | An impairment of health or a condition of abnormal functioning |
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| Spanish | enfermedad genética |
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| Catalan | malaltia genètica |
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