autosomal dominant disordernoun autosomal recessive defectnoun autosomal recessive diseasenoun branched chain ketoacidurianoun chondrodystrophynoun congenital afibrinogenemianoun congenital megacolonnoun congenital pancytopenianoun dwarfismnoun dystrophynoun fanconi's anaemianoun fanconi's anemianoun hepatolenticular degenerationnoun hirschsprung's diseasenoun hyperbetalipoproteinemianoun ichthyosisnoun inborn error of metabolismnoun juvenile amaurotic idiocynoun lactase deficiencynoun lactose intolerancenoun maple syrup urine diseasenoun marble bones diseasenoun mcardle's diseasenoun milk intolerancenoun monogenic diseasenoun monogenic disordernoun mucopolysaccharidosisnoun muscular dystrophynoun nanismnoun nevoid elephantiasisnoun oligodactylynoun oligodontianoun osteopetrosisnoun osteosclerosis congenitanoun otosclerosisnoun pachydermanoun polygenic diseasenoun polygenic disordernoun porphyrianoun spielmeyer-vogt diseasenoun |