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Welcome to Textpresso for OMIM®! This is a curation site containing approximately 25K full text OMIM® entries. Textpresso's strength lies in the sentence-focused search, i.e., multiple keywords and categories are matched in the same sentence to be returned as a search result. Textpresso is enriched by categories ("bags of words") that can be specified from a cascading menu. The categories are subject to change. Please give us feedback if particular entries need further explanation.
The software supports phrase searches (enclosed in double quotes) as well as searches for special characters. However, searches for super- or subscript annotations are not implemented yet. We update the collections of records weekly.

This site allows for searching specific sections of a record. A heuristic algorithm has been applied to subdivide the body of a record into sections.

Please use the Feedback page (option in the top menu) to report irregularities.

Database Description
Currently, this site contains information about the following literatures and data types (data count in parenthesis):
omim: HGNC symbol (24502), phenotypic series (387), allelic variants (3634), clinical synopsis (6278), text (24518), title (24518)
Summary: HGNC symbol : 24502, phenotypic series : 387, allelic variants : 3634, clinical synopsis : 6278, text : 24518, title : 24518
Total full-text OMIM® entries in corpus: 24518

Textpresso Sun Mar 18 13:59:54 2018 .