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April 24, 1967

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

JAMA. 1967;200(4):351. doi:10.1001/jama.1967.03120170123045

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.


This publication results from a very ambitious project—the cataloguing of all known inherited traits of man. That Dr. McKusick achieved a large measure of success is a tribute to his ability to organize masses of material. In order to accomplish this, the information was stored in a computer, and the printout was photographed directly for publication.

In a brief introduction, Dr. Mc-Kusick explains his nosological philosophy: "They are either the same disease, if they are based on the same mutation, or they are different diseases." [Italics his.] It is subsequently apparent that this is meant literally; detectably different alleles (eg, the hemoglobin variants) are each given a separate entry.

The main part of the text consists of 2,487 entries, including preferred and alternate trait designations, principal features of the phenotype, and selected references. The first "catalog" lists autosomal dominant traits, the second autosomal recessives, and the third X-linked recessives. Entries