Syndrome delineation. 1. Malformations and dysplasias.
A practical classification of genetic disorders and birth defects divides them into five categories: malformations, dysplasias, inborn errors of metabolism, deformities, and variant familial developmental patterns. The first two categories are discussed here. The last three will be discussed next month in part 2.
D000014:Abnormalities, Drug-Induced; D000015:Abnormalities, Multiple; D000016:Abnormalities, Radiation-Induced; D000130:Achondroplasia / Q000235:genetics; D001165:Arteriovenous Malformations; D001848:Bone Diseases, Developmental; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000145:classification*; D005260:Female; D005315:Fetal Diseases / Q000150:complications; D030342:Genetic Diseases, Inborn / Q000145:classification*; D006801:Humans; D009506:Nevus / Q000235:genetics; D010859:Pigmentation Disorders / Q000235:genetics; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious; D013577:Syndrome