| | 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 |