is een specifiek soort: congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder.

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