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OMIM QuickStart

Resource Overview | Where is OMIM? | Searching | Printing & Saving

Resource Overview

OMIM, (Online Mendelian Inheritance in Man) is the continuously updated, online version of the human genetics knowledge base Mendelian Inheritance in Man (MIM) serving clinical medicine and the Human Genome Project. It is a comprehensive catalog of human genes and genetic disorders with full text annotations on the most recent genetic research and the molecular genetic explanation of clinical disorders.

The Human Genome Initiative is a worldwide research effort with the goal of analyzing the structure of human DNA and determining the location of the estimated 100,00 human genes. In parallel with this effort, the DNA of a set of model organisms will be studied to provide the comparative information necessary for understanding the functioning of the human genome. The information generated by the human genome project is expected to be the source book for biomedical science. It will help us to understand and eventually treat many of the more than 4000 genetic, as well as, the many multifactorial diseases in which genetic predisposition plays a part. The Human Genome Program of the Department of Energy is working in cooperation with National Center for the Human Genome Research division of the National Institutes of Health.

From its inception in early 1960 until 1993, MIM (and from 1985, OMIM) was authored solely by Dr. Victor A. McKusick and the copyright is held by Johns Hopkins University School of Medicine. In 1993 an editorial board of 12 subject editors was established to assist with authoring and editing. The expansion was to help maintain the large amount of gene discovery information along with the increasing understanding of the genetic basis of disease.

Where is OMIM?

To get to OMIM choose the Databases section of JEFFLINE. Select the list of All Databases and choose O for OMIM. Click the green logon icon to start OMIM.

OMIM is available through the National Center for Biotechnology Information (NCBI) of the National Library of Medicine.

Searching

Choose a section of OMIM for searching. Enter keyword(s) or an OMIM number. To Search all fields, leave the field boxes unchecked. To narrow your search to certain specific fields, check the boxes next to those fields' names.

If you specify more than one keyword, the intersection (AND) will be used for joining of their entries. You may obtain the union (OR) of two terms by separating them with the character '|', or the difference (NOT) by separating them with the character '-' . You may specify all terms that begin with a given string of characters by placing a '*' to the end of the string of letters. Example: Anemia*

Boolean Operators

Complex queries can be constructed using the following boolean operators:

'&' for intersection (AND)
'|' for union (OR)
'-' for difference (BUTNOT)

Note! Because the difference operator, '-', can be part of a hyphenated word, it must be separated from its terms by one or more spaces.

Expressions are usually resolved left-to-right; to force a sub-expression to be resolved first, enclose it in parentheses.

Examples:

Search for articles with either "platelet" or "megakaryocyte":

platelet|megakaryocyte

The database contains textual information, pictures, and reference information. It also contains many links to NCBI's Entrez database and MEDLINE articles and sequence information.

Record Profiles
Example:

3 entries found, searching for "obesity"

*191160 TUMOR NECROSIS FACTOR, ALPHA; TNFA
*107741 APOLIPOPROTEIN E; APOE
*600917 PROTEIN PHOSPHATASE 1, GLYCOGEN-ASSOCIATED REGULATORY SUBUNIT; PP1G
Each underlined number is hyperlinked to more infomation in the format of:
*191160 TUMOR NECROSIS FACTOR, ALPHA; TNFA
Alternative titles; TNF; MACROPHAGE-DERIVED; CACHECTIN;

Table of Contents (choose one or all of following which are hyperlinked to more specific information)

  • TEXT
  • ALLELIC VARIANTS
  • View List of allelic variants
  • CLINICAL SYNOPSIS
  • REFERENCES
  • SEE ALSO
  • CREATION DATE
  • EDIT HISTORY
  • Database Links are to MEDLINE; Protein; DNA; and Gene Map

Printing & Saving


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