Is there a list of all the genetic diseases represented in the OMIM database?
No, there is no comprehensive list of all the genetic diseases in OMIM. You can search OMIM by disease name to see if a disease of interest is in the database. Many diseases are known by several synonyms. OMIM will automatically map search terms to cover multiple ways of referring to the same anomaly. The OMIM Help document provides additional information about searching. In lieu of a comprehensive list, there are two search strategies you can use in OMIM to retrieve subsets of records that (1) are associated with a phenotype, or (2) have a clinical synopsis: • To retrieve OMIM records associated with a phenotype: • use the Limits page to retrieve MIM records whose numbers have prefixes of +, #, and %, as well as those that have no prefix (none). (The meaning of each prefix is described in the FAQ on symbols.) • simply check the box for each of those prefixes on the Limits page and press the Go button. It is not necessary to enter a query in the text box • the records retrieved will be
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