Standards > terminology artifact > bsg-s002615


ready Online Mendelian Inheritance in Man Ontology

Abbreviation:OMIM Ontology


General Information
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes as well as the relationship between them, that is freely available and updated daily. The OMIM ontology contains terms used within the OMIM database. The new official website for OMIM, (http://omim.org), was launched in January 2011.



Record updated: Oct. 27, 2016, 10:08 p.m. by The FAIRsharing Team.



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OMIM Ontology Display

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Implementing Databases (7)
FlyBase
Genetic, genomic and molecular information pertaining to the model organism Drosophila melanogaster and related sequences. This database also contains information relating to human disease models in Drosophila, the use of transgenic constructs containing sequence from other organisms in Drosophila, and information on where to buy Drosophila strains and constructs.

Comparative Toxicogenomics Database
The Comparative Toxicogenomics Database (CTD) advances understanding of the effects of environmental chemicals on human health. Biocurators manually curate chemical-gene, chemical-disease, and gene-disease relationships from the scientific literature. This core data is then internally integrated to generate inferred chemical-gene-disease networks. Additionally, the core data is integrated with external data sets (such as Gene Ontology and pathway annotations) to predict many novel associations between different data types. A unique and powerful feature of CTD is the inferred relationships generated by data integration that helps turn knowledge into discoveries by identifying novel connections between chemicals, genes, diseases, pathways, and GO annotations that might not otherwise be apparent using other biological resources.

Orphanet
Orphanet is the reference resource for information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet maintains the Orphanet nomenclature, essential for interoperability, and the Orphanet Rare Disease Ontology (ORDO).

Moroccan Genetic Disease Database
The Moroccan Genetic Disease Database (MGDD) collect and document mutations and frequencies of polymorphisms reported in the Moroccan population. The information in the MGDD allow researchers and clinicians to find mutations associated to a given disease or gene of interest, and they can also find polymorphisms associated with susceptibility to a genetic disease or individual responses to pharmaceutical drugs or environmental factors.

MouseMine @ MGI
A database of integrated mouse data from MGI, powered by InterMine. MouseMine is member of InterMOD, a consortium of model organism databases dedicated to making cross-species data analysis easier through ongoing coordination and collaborative system development.

Online Mendelian Inheritance in Man
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.

Target Central Resource Database
TCRD is the central resource behind the Illuminating the Druggable Genome Knowledge Management Center (IDG-KMC). TCRD contains information about human targets, with special emphasis on four families of targets that are central to the NIH IDG initiative: GPCRs, kinases, ion channels and nuclear receptors. Olfactory GPCRs (oGPCRs) are treated as a separate family. A key aim of the KMC is to classify the development/druggability level of targets. The official public portal for TCRD is Pharos (pharos.nih.gov). Based on modern web design principles the Pharos interface provides facile access to all data types collected by the KMC. Given the complexity of the data surrounding any target, efficient and intuitive visualization has been a high priority, to enable users to quickly navigate & summarize search results and rapidly identify patterns. A critical feature of the interface is the ability to perform flexible search and subsequent drill down of search results. Underlying the interface is a RESTful API that provides programmatic access to all KMC data, allowing for easy consumption in user applications.

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Grant Number(s)

  • 1U41HG006627 (National Human Genome Research Institute)


Publications

OMIM.org: Online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders.

Amberger JS,Bocchini CA,Schiettecatte F,Scott AF,Hamosh A
Nucleic Acids Res 2014

View Paper (PubMed) View Paper (DOI)