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