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OMIM Tutorial


Browse OMIM data in NIF
For more information, visit OMIM Homepage or the NeuroLex entry for OMIM


OMIM, which is an acronym for Online Mendelian Inheritance in Man, is a compendium of human genes and genetic phenotypes, and focuses mainly on the relationship between genotype and phenotype. The entries also include additional links to external resources for more information.

In this example, we search for the genetic disorder hemophilia.


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Under the Data Federation main tab and Data Type category is the Disease section in which OMIM is located. Notice that it is also under Nervous System Level > Genes. Click on either OMIM: Genes. The information gathered from the site appears in the right field.


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Clicking on the first link will bring us to the following page showing the information regarding Hemophilia B. The table of contents to the right opens to the following sections with one click: Title, Phenotype Gene Relationships, Text and the text subsections including description and molecular genetics, Clinical Synopsis, See Also, References, and contribution data.

Additionally, below the table of contents are links to various external resources regarding the disorder.


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NIF Statistics



NIF Version: 5.0

Ontology Version: 2.5

Level 2.5/3.0 Resources: 889

Registry Entries: 6,339

Total Records: 356,197,652





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