omim

What is OMIM?
OMIM stands for Online Mendelian Inheritance in Man. OMIM focuses on the relationship between genotype and phenotype; it contains information related to each gene shown to contribute to a specific aspect of the human condition.

Tips for Using OMIM:

Alphanumeric Identifiers - Entering a gene or disease name into the search window will reveal a list of matches each with a unique alphanumeric identifier. Clicking on one of these identifiers takes you to the associated OMIM entry.

Limits - You can restrict your search by search field, chromosome number, or record type by using limits.

Frequently Asked Questions:

How is information presented in OMIM? 
Each OMIM entry is essentially is a description of the discovery and study of the associated gene. It includes information about gene location and linkage as well as research literature summarized under various headings such as Gene Function Inheritance, Biochemical Features, Clinical Features, etc.

Additional help is provided on the OMIM website.