Genetics-Related Disease States

Robert Robbins rrobbins at GDB.ORG
Fri Jul 14 15:10:05 EST 1995

Have you tried

This provides a text query into OMIM, a full text database of information
on human geneics and disorders.

The way you have phrased your potential questions, "what chromosomes are
related to disease state X," is a little problematic, since the answer in
nearly every case will depend on just what you mean by "related." Although
Down's Syndrome, for example, is associated having three copies of
chromosome 21, the phenotype is caused not by the actual presence of the
third copy of an otherwise normal chromosome 21 but rather by the
imbalance in the ratio of the dosage of chromosome 21 to the other
chromosomes, so in a loose sense of "related" Down's syndrome is related
to all chromosomes, but appears to result from three copies of chromosome
21 in an otherwise normal set of chromosomes. 

As for diabetes, a full text search on that word into OMIM produced a
large set of 212 "hits."  Reading through all of them would give a lot of
candidate chromosomes that might be "related" in one way or another with

On 13 Jul 1995 jkm at wrote:

> While the Human Genome Database at Johns Hopkins University contains
> information on genetics-related disease states for each chromosome, this
> information is not convenient to locate and retrieve, i.e. through any
> text search capability.  I would like references on the network
> (preferably Web or WAIS servers) to easily and quickly text searchable
> databases of this
> information.  For example, I want to search for "diabetes" or "Down's
> Syndrome" and get a list of chromosomes related to these disease states.
> John K Munro Jr
> Oak Ridge National Laboratory
> jkm at
> (615) 574-0635
> FAX: (615) 576-8380

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