Cited by 773Genomics and Rare DiseasesBiomedical Text Mining and OntologiesGenetic Associations and Epidemiology

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

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Hamosh, A.·2002·Nucleic Acids Research

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Abstract

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support research and education in human genomics and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (www.ncbi.nlm.nih.gov/omim) is now distributed electronically by the National Center for Biotechnology Information (NCBI), where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, approved gene nomenclature, and the highly detailed mapviewer, as well as patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

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Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders
McKusick, V. A. (1998) · DigitalGeorgetown (Georgetown University Library) · Cited by 681

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Authors: Hamosh, A.
Affiliations: Johns Hopkins University (US)
Corresponding author: Hamosh, A.
ORCID: Hamosh, A.
Venue: Nucleic Acids Research
Publisher: Oxford University Press (OUP)
Published: 2002-01-01
Volume: 30
Issue: 1
Pages: 52-55
ISSN: 0305-1048 (ISSN-L)
1362-4962
DOI: 10.1093/nar/30.1.52
PMC: PMC99152
OpenAlex: W4248234957
Cited by: 762
References: 1
Citations by year: 2026: 12 · 2025: 20 · 2024: 34 · 2023: 38 · 2022: 43 · 2021: 37 · 2020: 54 · 2019: 46 · 2018: 34 · 2017: 31 · 2016: 19 · 2015: 22 · 2014: 24 · 2013: 25 · 2012: 29
FWCI: 23.41
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Nucleic Acids Research (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Health Sciences › Medicine › Health Informatics › Biomedical Text Mining and Ontologies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: OMIM, genetic disorders, human genes, Mendelian inheritance, human genomics, medical genetics, gene nomenclature, mutation database, genetic databases
MeSH terms: Chromosome Mapping, Forecasting, Genes, Humans, Information Storage and Retrieval, Internet, Genetic Diseases, Inborn, Databases, Genetic

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

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