# Online Mendelian Inheritance in Man (OMIM)

> **NIH NIH U41** · JOHNS HOPKINS UNIVERSITY · 2021 · $1,935,000

## Abstract

The goal of Online Mendelian Inheritance in Man (OMIM®) is to expand the understanding of human biology
and disease by providing a timely, authoritative, easily accessible, and computable knowledgebase of the
increasingly complex and nuanced relationships between human genes and genetic phenotypes (disorders
and traits). OMIM has been freely available on the internet/web since 1987. With detailed descriptions of over
7,500 disorders and more than 15,400 genes, OMIM has an unparalleled breadth and richness of description
of human phenotypic variation that directly facilitates clinical care, disease-gene discovery, and translational
science. OMIM is a “go-to” resource for clinical geneticists and other health care professionals and for
researchers in many fields including molecular biology, genetics, genomics, bioinformatics, and drug discovery.
OMIM names and classifies Mendelian phenotypes based on the peer-reviewed biomedical literature and
consultation with the medical community. OMIM's stability and authority are internationally recognized, and
MIM number identifiers are widely used throughout the biomedical literature. At the core of OMIM are expert
biocurators and MD and PhD science writers who review, evaluate, and summarize prioritized relevant articles
into structured entries. Since the creation of OMIM.org in 2011, we enrich its content by including automated
mappings of OMIM data to structured-vocabulary resources such as ICD9/10, SNOMED CT, HPO, and the
UMLS. In addition, we leverage data from a variety of other resources to augment online content, and have
further enabled computational survey and data mining with the creation of a robust REST API. OMIM's Morbid
Map is at the heart of correlating phenotypes and genes. To show the genetic heterogeneity of a clinical
phenotype, we have created Phenotypic Series. We collaborate with other informatics resources and curation
efforts such as ClinVar and ClinGen to share and harmonize data elements. OMIM's core competency is
expert curation of the literature and selection of database content. Going forward, we will ensure coverage of
the output of NGS initiatives by hiring and training additional expert curators and bioinformatics staff and
continuing to develop efficient and automated processes to mine the biomedical literature. We are redesigning
the website to offer additional views of phenotype-gene relationships, side-by-side comparisons of clinical
synopses, and new field-assisted and batch query searching. We are engaging the community through on-site
training and with innovative new services such as MIMmatch. We will enhance the structural compatibility of
OMIM with other entities and maintain industry-best practices in database and software development. We will
provide web and API services to our over 2.7 million unique users per year in a targeted and cost-effective
way.

## Key facts

- **NIH application ID:** 10180997
- **Project number:** 5U41HG006627-10
- **Recipient organization:** JOHNS HOPKINS UNIVERSITY
- **Principal Investigator:** ADA HAMOSH
- **Activity code:** U41 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,935,000
- **Award type:** 5
- **Project period:** 2012-06-12 → 2022-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10180997

## Citation

> US National Institutes of Health, RePORTER application 10180997, Online Mendelian Inheritance in Man (OMIM) (5U41HG006627-10). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10180997. Licensed CC0.

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