The OMIM database provides structured summaries of the relationship between human genotypes and phenotypes by reviewing the biomedical literature. It was initiated in the 1960s as MIM and became an online database called OMIM in 1985. OMIM contains over 24,600 entries describing more than 16,000 genes and 8,600 phenotypes. The entries are updated nightly and provide a structured format to describe genotype-phenotype relationships along with interactive tools like genome coordinate searching and phenotypic series.

1. OMIM database
Online Mendelian Inheritance in Man®
• (http://omim.org) relationship between genotype and phenotype
• The phenotype–gene relationships are tabulated in OMIM’s Morbid Map of the Human
Genome (Morbid Map)
• initiated as MIM (Medelian Inheritance in Men) catalogue of 12 books in 1960s.
• 1985, OMIM started as the online version of MIM
• The entries contain structured summaries of new and important information based on
expert review of the biomedical literature
• interactive access to the knowledge repository (genomic coordinate, genetic heterogeneity
of phenotypes in Phenotypic Series, and side-by-side comparisons of clinical synopses)
• OMIM.org also supports computational queries via a robust API
• >24,600 entries, updated nightly
• OMIM Morbid Map Scorecard had 6,259 molecularized phenotypes connected to 3,961 genes

2. OMIM entries
• structured free-text format that provides the flexibility to describe genotype-phenotype
relationship
• Genes and phenotypes are described in separate entries
• OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map.
•
• OMIM.org has enhanced search capabilities such as genome coordinate searching and
thesaurus-enhanced search term options
• Phenotypic series facilitate viewing genetic heterogeneity of phenotypes
• Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and
Elements of Morphology terms and image links
• All OMIM data are available for FTP download and through an API
• MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.

3. OMIM entries
• 24 600 entries describing over 16 000 genes and 8600 phenotypes
• all entry are unique + stable MIM number

4. Growth in OMIM entries

5. OMIM schema
Dashed lines indicate that not all genes have allelic variants;
not all phenotypes are mapped; and mapped phenotypes are not necessarily
part of a Phenotypic Series.

6. Commonly used OMIM entry headings

7. External links

8. OMIM’s approach to naming
Nucleic Acids Research, Volume 47, Issue D1, 16 November 2018, Pages D1038–D1043, https://doi.org/10.1093/nar/gky1151
The content of this slide may be subject to copyright: please see the slide notes for details.