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Clinical information

Useful databases for finding information regarding
specific clinical conditions and the names of the associated genes.

Online Mendelian Inheritance in Man (OMIM)

A reference catalogue, containing over 20,000 entries, listing human genetic conditions and related genes. It began as a printed version in the early 1960's, initiallycompiled by the late Victor McKusick.Much detailed information but less easy to read than GeneReviews.

Large number of reasonably comprehensive, disease-orientated, reviews. Generally expert-authored and easy to read.
An invaluable, continually updated index of millions of clinical
and scientific peer-reviewed articles. Provides abstracts plus links to electronic PDF versions of articles.
A ‘consumer-friendly’ guide (from the US National Library of Medicine) to the genetics of more than 350 conditions. Provides basic information and is particularly helpful to non-professionals. Includes a glossary of medical and genetic definitions.

For more details regarding these databases and a user's guide on how to make the most efficient use of these databases, see Part 3 of Essential Medical Genetics 6th Edition