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The Structure of Eponyms in V. A. McKusick's Catalogue "Mendelian Inheritance in Man"

https://doi.org/10.25557/2073-7998.2026.09.10-13

Abstract

The article examines the structure of eponymous names of hereditary diseases, syndromes, and traits catalogued in the OMIM (Online Mendelian Inheritance in Man) database, created by Victor McKusick. It is shown that among more than 30,000 entries in the catalogue, 347 names (1.7%) are eponyms recommended as the primary designation. Four categories of eponyms have been identified and characterised: anthroponyms (82.4%), acronyms (14.7%), toponyms (2.3%), and ethnonyms (0.6%). Examples of each category are provided. The problem of pejorative names for hereditary syndromes is considered separately, along with the ethical aspects of using such terms when communicating with patients and the didactic value of figurative names in teaching clinical genetics. The cultural and historical significance of eponymic terminology is discussed as a means of preserving the memory of outstanding researchers and events.

About the Authors

N. N. Chechetkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences; Siberian State Medical University of the Ministry of Health of Russia
Russian Federation

Chechetkina N.N.

 



M. S. Kolomiets
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences; Siberian State Medical University of the Ministry of Health of Russia
Russian Federation

Kolomiets M. S.



V. P. Puzyrev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences; Siberian State Medical University of the Ministry of Health of Russia
Russian Federation

Valery Puzyrev



References

1. Jones K. Smith's Recognizable Patterns of Human Malformation. Translated from English by A. G. Azov, I. A. Ivanova, A. V. Misharin, N. A. Rabieva. Moscow, Praktika, 2011. 1024 p. (In Russian)

2. McKusick V. A. Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet, 2007, vol. 80, no. 4, pp. 588-604.

3. McKusick V. A. Human Hereditary Traits. Translated from English by E. K. Ginter and V. I. Ivanov. Moscow, Meditsina, 1967. 684 p. (In Russian)

4. McKusick V. A. A 60-years tale of spots, maps and genes. Annu Rev Genomics Hum Genet, 2006, vol. 7, pp. 1-27.

5. McKusick V. A. Mendelian Inheritance in Man: catalog of human genes and genetic disorders. Johns Hopkins University Press, Baltimore, 1998. (12th ed.)

6. Berdyaev N. A. The Meaning of History. Moscow, Mysl, 1990, pp. 58-59. (In Russian)


Review

For citations:


Chechetkina N.N., Kolomiets M.S., Puzyrev V.P. The Structure of Eponyms in V. A. McKusick's Catalogue "Mendelian Inheritance in Man". Medical Genetics. 2026;25(9):10-13. (In Russ.) https://doi.org/10.25557/2073-7998.2026.09.10-13

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ISSN 2073-7998 (Print)