OMIM Linking Help

Use the following url to link to a specific entry, in this case 300377:

https://omim.org/entry/300377

Linking to a specific allelic variant is done by appending a '#' followed by the allelic variant number, in this case allelic variant 0006 in entry 134934:

https://omim.org/entry/134934#0006

You can also link directly to the table of allelic variants for an entry:

https://omim.org/allelicVariant/134934

You can highlight specific terms by adding the 'highlight' parameter to the url as follows:

https://omim.org/entry/300377?highlight=duchenne+muscular+dystrophy

Linking via a search is done as follows:

https://omim.org/search?index=entry&search=duchenne+muscular+dystrophy

You can set the number of entries to return with the 'limit' parameter, so to get 100 entries you would append '&limit=100'.

You can set the sort order by using the 'sort' parameter. You would append '&sort=score+desc' to sort by rank, or 'sort=date_updated+desc' to sort by date updated.

Note that the '+' (plus) is used to replace spaces, which is a URL requirement.

Use the following url to link to a specific clinical synopsis, in this case 310200:

https://omim.org/clinicalSynopsis/310200

You can highlight specific terms by adding the 'highlight' parameter to the url as follows:

https://omim.org/clinicalSynopsis/310200?highlight=calf+muscle+pseudohypertrophy

Linking via a search is done as follows:

https://omim.org/search?index=clinicalSynopsis&search=scoliosis

Note that the '+' (plus) is used to replace spaces, which is a URL requirement.

Use the following url to link to a specific chromosome on the gene map, in this case chromosome 2:

https://omim.org/geneMap/2

or chromosome X:

https://omim.org/geneMap/X

The default is to show the first 10 entries, but you can show up to 100, as follows:

https://omim.org/geneMap/2?limit=100

Note that the gene map entries are sorted in ascending genomic start position order, and by symbols if multiple entries start in the same location.

Use the following url to link to a phenotypic series:

https://omim.org/phenotypicSeries/PS102300

PS102300 is the phenotypic series for Restless legs syndrome.

A list of disorders with a phenotypic series is available here.

Use the following url to link to a search, in this case a search for 'duchenne musculal dystrophy':

https://omim.org/search?search=duchenne+muscular+dystrophy

You can search specific fields too, in this case a search for the dbSNP rs77121243 in the dbSNP field of the allelic variants:

https://omim.org/search?search=av_db_snp:rs77121243

The search defaults to searchings entries if the index is not specified.

You can specify the entries index in the search by adding the 'index=entry' parameter to the url as follows:

https://omim.org/search?index=entry&search=rs77121243

You can search the clinical synopses by adding the 'index=clinicalSynopsis' parameter to the url as follows:

https://omim.org/search?index=clinicalSynopsis&search=autosomal+dominant

Note that the '+' (plus) is used to replace spaces, which is a URL requirement.

And you can search the gene map by adding the 'index=geneMap' parameter to the url as follows:

https://omim.org/search?index=geneMap&search=epilepsy

Searching for all gene entries containing a MIM number, in this case '209900':

https://omim.org/search?index=geneMap&search=209900

Searches of arbitrary complexity can be created, the search help provides documentation on the features and fields available.

A field-delimited file linking MIM numbers to NCBI Gene IDs and HGNC Approved Gene Symbols is available from the downloads page:

mim2gene.txt

The MIM number should be used as the link name, for example a link to 300377 should read:

MIM:300377

The 'MIM:' prefix makes it clear that it is a MIM number.

MIM:300377

Links to phenotypic series should include the 'PS' prefix in the link name, for example a link to phenotypic series PS102300 should read:

MIM:PS102300

Links to specific allelic variants should include the number in the link name, 4 digits prepaded with zeros, for example a link to allelic variant 6 in 300377 should read:

MIM:300377.0006

Compact URIs (CURIE) must be used when representing MIM numbers, the prefix being 'MIM', for example:

MIM:300377

MIM:PS102300

MIM:300377.0006

Please see CURIE Syntax 1.0 by the W3C for more information on Compact URIs.

MIM supports three persistent uniform resource locators (PURLs) which will automatically redirect the user to the appropriate entry, phenotypic series and allelic variants pages.

For entries:

https://omim.org/MIM:300377

For phenotypic series:

https://omim.org/MIM:PS102300

For allelic variants:

https://omim.org/MIM:300377.00001