genetic abnormality

congenital disease genetic defect genetic disease genetic disorder hereditary condition hereditary disease inherited disease inherited disorder

disease

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