This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.
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
Motulsky AG. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. JAMA. 1989;261(21):3177–3178. doi:10.1001/jama.1989.03420210127033
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: