title: On lumpers and splitters, or the nosology of genetic disease.
mesh_terms: D004392:Dwarfism; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000145:classification* / Q000175:diagnosis; D005826:Genetics, Medical; D005838:Genotype; D006801:Humans; D007178:Inbreeding; D007410:Intestinal Diseases / Q000235:genetics; D009083:Mucopolysaccharidoses / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000235:genetics; D010641:Phenotype; D011127:Polyps / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics; D009626:Terminology as Topic