genetic defect vs maple syrup urine disease

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