Rare phenotypes have high IC, and common terms have low IC. The informativeness, or information content (IC), of a phenotype is defined as the negative log of that phenotype's frequency among all diseases.
Select a disease class to highlight its constituent diseases below.
Submit phenotype query to generate.
are rarest phenotypes of diseases most similar to query, sorted by relevance.
Select genes to generate.
are phenotypes annotated to diseases meeting gene filter
Select phenotypes to generate.
are genes annotated to diseases meeting
phenotype filter. ("Search -> Phenotype -> Select OR Sort")
These are NOT molecular diagnostic suggestions. Please refer to the "Differential Diagnosis" section for molecular diagnostics suggestions, which are computed via semantic similarity calculations.
Select diseases in the "MIM ID" subtab of the "Input" tab to the left to view their respective phenotypic and genotypic annotations, similarities to each other, and similarities to any queried phenotypes.
Submit query to display candidate gene contacts in training gene network.
Upload variant genes to view input summaries.
(Select "Input" -> "Gene" -> "Upload" in the left navigation panel.)
Click the guide buttons above to perform
phenotype-driven,semanticclinical diagnostics and discovery.
Not intended for direct clinical application.
All OMIM Explorer results are systematically-generated
that may require additional confirmation.
This validation is the responsibility of the user.
Neither Baylor College of Medicine nor any individual involved in the construction of OMIM Explorer
is responsible for clinical actions that may result from the use of this software.
By using this tool, the user assumes all responsibility for any information that may be generated.