Hospital Sant Joan de Déu
Sharing to move ahead




The OMIM (Mendelian Inheritance in Man) project is an initiative of the National Center for Biotechnology Information (NCBI) at Johns Hopkins University (Baltimore-USA). It is a database that includes all genetic diseases, and also offered when there is scientific evidence about its phenotypic manifestation.

It is an online resource that is updated regularly. For the user of the website the day of the last update can be seen. There are different possible ways for finding information:

  • Using the search box and detailing the specific coding gene mutated in relation to what we seek information. For example, ORCL1 (in the case of Lowe syndrome), PMM2 gene or in the case of congenital disorders of glycosylation type 1a (CDG-1a).
  • According to clinical symptoms of the mutated gene, providing the ability to select different types of clinical symptomatology (respiratory problems, growth, haematological, etc.).
  • In relation to the genome map, detailing the chromosome related, informing whether the disease is autosomal. It displays diseases for which the information is known phenotype.

The online tool also provides the ability to access a web page that is a compilation of different tutoralies in online format, downloadable pdf or videos, which can help the user to know the proper functioning of the utilities of the base data.

The OMIM database is linked to the search engine of the National Library of Medicine US. When we searched according affects genes on the site of the library, which is obligatory reference resource for health professionals (PUBMED), you access the same repository of information.

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