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

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A - Nucleic Acids Res. (2014)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA joanna@peas.welch.jhu.edu.

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Example of API output of an OMIM clinical synopsis. For this example, the output format is JSON and examples of the unique identifiers for UMLS, HPO identifiers are underlined. The API enables batch queries of all OMIM data and allows computational integration of data on the fly.
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Figure 8: Example of API output of an OMIM clinical synopsis. For this example, the output format is JSON and examples of the unique identifiers for UMLS, HPO identifiers are underlined. The API enables batch queries of all OMIM data and allows computational integration of data on the fly.

Mentions: The OMIM API is a web-based REST API that responds to requests made over HTTP. Registration for the API is available from the Downloads link at the top of every OMIM.org page. An email is sent to users with their API key and instructions. The ‘Help’ link at the top of every OMIM.org page provides access to a concise and instructive API-specific guide. Because the OMIM website is built on the API, most of the functionality that is available on the website is also available in the API. The API accepts a wide variety of requests, including searching for entries and fetching individual entries or lists of entries. Results can be fetched in batches. Users can control which entry text sections they want to download, such as only references, only AVs, only text subsections (e.g. titles, descriptions), etc. The gene map can be searched using text, location, genomic coordinates, or chromosome. The API also offers a very simple web browser-based user interface in which users can enter a variety of parameters and see the results in whatever format they choose (Figure 8). This is an invaluable tool to test requests and to see how the response is formatted. The API output is available in a variety of formats including XML, JSON, JSONP, Python and Ruby.


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

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A - Nucleic Acids Res. (2014)

Example of API output of an OMIM clinical synopsis. For this example, the output format is JSON and examples of the unique identifiers for UMLS, HPO identifiers are underlined. The API enables batch queries of all OMIM data and allows computational integration of data on the fly.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4383985&req=5

Figure 8: Example of API output of an OMIM clinical synopsis. For this example, the output format is JSON and examples of the unique identifiers for UMLS, HPO identifiers are underlined. The API enables batch queries of all OMIM data and allows computational integration of data on the fly.
Mentions: The OMIM API is a web-based REST API that responds to requests made over HTTP. Registration for the API is available from the Downloads link at the top of every OMIM.org page. An email is sent to users with their API key and instructions. The ‘Help’ link at the top of every OMIM.org page provides access to a concise and instructive API-specific guide. Because the OMIM website is built on the API, most of the functionality that is available on the website is also available in the API. The API accepts a wide variety of requests, including searching for entries and fetching individual entries or lists of entries. Results can be fetched in batches. Users can control which entry text sections they want to download, such as only references, only AVs, only text subsections (e.g. titles, descriptions), etc. The gene map can be searched using text, location, genomic coordinates, or chromosome. The API also offers a very simple web browser-based user interface in which users can enter a variety of parameters and see the results in whatever format they choose (Figure 8). This is an invaluable tool to test requests and to see how the response is formatted. The API output is available in a variety of formats including XML, JSON, JSONP, Python and Ruby.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA joanna@peas.welch.jhu.edu.

Show MeSH