Hyponyms: monogenic disorder, monogenic disease, polygenic disorder, polygenic disease, achondroplasia, achondroplasty, osteosclerosis congenita, chondrodystrophy, abetalipoproteinemia, inborn error of metabolism, Hirschsprung's disease, congenital megacolon, mucopolysaccharidosis, hyperbetalipoproteinemia, ichthyosis, maple syrup urine disease, branched chain ketoaciduria, McArdle's disease, muscular dystrophy, dystrophy, oligodactyly, oligodontia, otosclerosis, autosomal dominant disease, autosomal dominant disorder, autosomal recessive disease, autosomal recessive defect, Fanconi's anemia, Fanconi's anaemia, congenital pancytopenia, Spielmeyer-Vogt disease, juvenile amaurotic idiocy, congenital afibrinogenemia, osteopetrosis, Albers-Schonberg disease, marble bones disease, nevoid elephantiasis, pachyderma, dwarfism, nanism, lactose intolerance, lactase deficiency, milk intolerance, porphyria, hepatolenticular degeneration, Wilson's disease
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