In Search of Genetic Diseases

Peter Rice pmr at
Thu Feb 23 04:45:08 EST 1995

In article <imnr.1.000C6B30 at> imnr at (Donald D. Rollins) writes:
>I am in search of an on-line reference that someone recently told me about. 
>It is a regularly updated version of a book which describes the known human 
>heritable diseases and their molecular bases (i.e. genetic mutations). Can 
>anyone help me locate this reference, if it exists?

I would guess the book is "Mendelian Inheritance in Man" and the online
version is "OMIM" (naturally this means "OnLine Mendelian Inheritance in Man".

There are various ways to query it. Several sites have it installed together
with the GDB (human) Genome Data Base, where you can query it very easily
using IRX (you give it any text and it finds close matches). You need
an account to use these services. You can also get the full text by
anonymous FTP, but it is to large to want to store and update locally
unless you regularly need it. Better is to access it via the Web.

For more information you could try URL:

which is the home page for the Genome Data Base at Johns Hopkins
University. It includes an OMIM query tool.

OMIM is also indexed at several SRS servers around Europe. We reindexed ours
this week with a recent OMIM update. The URL is:

to take you straight into SRS. OMIM at the Sanger Centre is included
under "genome library".

Alternatively, you can come in through:

which is our home page. The "searching databases" option takes you into
SRS more gently, and includes a growing SRS tutorial. As it happens, the
first example I wrote for the tutorial was for OMIM because random
searches of it are such fun.

For more information on SRS, watch for the newly announced newsgroup
Peter Rice                           | Informatics Division
E-mail: pmr at             | The Sanger Centre
Tel: (44) 1223 494967                | Hinxton Hall, Hinxton,
Fax: (44) 1223 494919                | Cambs, CB10 1RQ
URL:    | England

More information about the Bioforum mailing list