English > hereditary condition: 1 sense > noun 1, stateMeaning | A disease or disorder that is inherited genetically. |
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Synonyms | genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease |
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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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