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

TLDR

The tenth edition of the 1966‑originated reference work, Mendelian Inheritance in Man, expands its coverage and provides clinical and phenotypic details on single‑gene inheritance, complementing the Genome Data Base’s mapping and marker information. The book is organized into two volumes: Volume 1 contains introductory material and 1,170 pages on autosomal dominant inheritance, while Volume 2 covers 814 pages of autosomal recessive and X‑linked phenotypes and includes a comprehensive index, with all traits catalogued by McKusick and colleagues and linked to the Genome Data Base. The tenth edition is the first to be split into two volumes, integrates with the Genome Data Base, and its entry count is growing exponentially.

Abstract

A major reference work that first appeared in 1966 has been published in its tenth edition. For the first time, the book appears in two volumes. Volume 1 consists of introductory material (219 pages) and 1170 pages dealing with autosomal dominant inheritance. Volume 2 covers autosomal recessive and X-linked phenotypes (814 pages) and includes an extensive author and subject index (216 pages). McKusick and his colleagues, Francomano and Antonarakis, list all traits and diseases transmitted by single-gene inheritance. McKusick's catalog is integrated with the Genome Data Base. While GDB deals with gene mapping, DNA markers, and probe availability, McKusick's catalog and its frequently updated computerized version (OMIM—Online Mendelian Inheritance in Man—via Sprintnet or Internet, part of the Welch Medical Library, Johns Hopkins University, telephone [410] 955-7058) provide information on clinical and phenotypic aspects and mapping of<i>expressed</i>genes. The number of entries keeps growing exponentially. During the last four years