GENETIC DEFECT
Definition:
- [noun] a disease or disorder that is inherited genetically
Synonyms: genetic disease, genetic disorder, genetic abnormality, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition
Synonyms:
Related Words:
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monogenic disorder, monogenic disease
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polygenic disorder, polygenic disease
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achondroplasia, achondroplasty, osteosclerosis congenita, chondrodystrophy
- abetalipoproteinemia
- inborn error of metabolism
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Hirschsprung's disease, congenital megacolon
- mucopolysaccharidosis
- hyperbetalipoproteinemia
- ichthyosis
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maple syrup urine disease, branched chain ketoaciduria
- McArdle's disease
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muscular dystrophy, dystrophy
- oligodactyly
- oligodontia
- otosclerosis
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autosomal dominant disease, autosomal dominant disorder
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autosomal recessive disease, autosomal recessive defect
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Fanconi's anemia, Fanconi's anaemia, congenital pancytopenia
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Spielmeyer-Vogt disease, juvenile amaurotic idiocy
- congenital afibrinogenemia
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osteopetrosis, Albers-Schonberg disease, marble bones disease
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nevoid elephantiasis, pachyderma
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dwarfism, nanism
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lactose intolerance, lactase deficiency, milk intolerance
- porphyria
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hepatolenticular degeneration, Wilson's disease
