OMIM Database

Presentation in INFO-703 Biological Data Management

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.