Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Open accessAbstract
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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The OMIM database provides examples of near-Mendelian cases of many relatively common disorders.
“perusal of the Online Mendelian Inheritance in Man (OMIM) database provides examples of near-Mendelian cases of many relatively common disorders42.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [42]
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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
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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