monogenic disorder

monogenic disease

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

CF crescent-cell anaemia crescent-cell anemia cystic fibrosis drepanocytic anaemia drepanocytic anemia dysostosis multiplex familial hypercholesterolemia fibrocystic disease of the pancreas gargoylism Gaucher''s disease Huntington''s chorea Huntington''s disease Hurler''s disease Hurler''s syndrome infantile amaurotic idiocy lipochondrodystrophy Mediterranean anaemia Mediterranean anemia mucoviscidosis neurofibromatosis pancreatic fibrosis Sachs disease SCID severe combined immunodeficiency severe combined immunodeficiency disease sickle-cell anaemia sickle-cell anemia sickle-cell disease Tay-Sachs Tay-Sachs disease thalassaemia thalassemia von Recklinghausen''s disease