Genetic defect Uncommon

disease

monogenic disorder polygenic disorder achondroplasia abetalipoproteinemia inborn error of metabolism Hirschsprung's disease mucopolysaccharidosis hyperbetalipoproteinemia ichthyosis maple syrup urine disease McArdle's disease muscular dystrophy oligodactyly oligodontia otosclerosis autosomal dominant disease autosomal recessive disease Fanconi's anemia Spielmeyer-Vogt disease congenital afibrinogenemia osteopetrosis nevoid elephantiasis dwarfism lactose intolerance porphyria hepatolenticular degeneration

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