Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

In 1966 Victor McKusick published the first edition of this catalog. The book attempted to document in a single reference volume all known human genes, traits, and diseases that segregated by monogenic or Mendelian inheritance. Conditions that incontestably followed a given Mendelian mode of inheritance were starred ( * ), but many conditions whose mode of transmission was less certain were also listed. Each entry was given a unique identification number, and a short description of each entity was followed by a list of key references. The eighth edition of this reference work has now appeared. From a total of 1487 entries in 1966, the number has grown to 4344 in 1988. There are 2208 definite Mendelian entities (1443 autosomal dominant, 626 autosomal recessive, and 139 X-linked) and 2136 entries where the mode of inheritance is less certain. Many new data are provided regarding linkage and chromosomal localization. There are thought to be