What is OMIM database used for?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes. OMIM focuses on the relationship between phenotype and genotype.
Which category of database is OMIM?
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.
Who funds OMIM?
OMIM curation and updating is funded by a grant from the National Human Genome Research Institute (NHGRI) [1U41HG006627]. Initial development of the OMIM.org website was supported by Johns Hopkins Medicine and a grant from the Maryland Department of Health and Mental Hygiene.
How many diseases are there in OMIM?
OMIM has 450 entries with 5 or more AVs, 210 with 10 or more, 5 with 100 or more, and only 1 with more than 300, the HBB entry (141900). In addition to disease-causing mutations, the AVs include 69 selected polymorphisms with some phenotypic association.
What OMIM tells us?
OMIM is an authoritative full-text overview of genes and genetic phenotypes that can be used by students, researchers and clinicians. Curation of the database and editorial decisions take place at Johns Hopkins University School of Medicine. Authors are located at Johns Hopkins and around the world.
What does the OMIM number tell you?
Each OMIM entry is assigned a unique six-digit number whose first digit indicates whether its inheritance is autosomal, X-linked, Y-linked or mitochondrial: 1, autosomal loci or phenotypes (entries created before May 15, 1994); 2, autosomal loci or phenotypes (entries created before May 15, 1994); 3, X-linked loci or …
Is OMIM a journal?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.
How many diseases are there in Omim?
How do you get Omim?
OMIM Search Help
- OMIM Search Help.
- For basic searches, simply enter the terms in the search box and click the ‘Search’ button:
- Adding a ‘+’ (plus) operator before specific terms will ensure that these appear in the entries returned:
- You can search for phrases by adding quotation marks at both ends of the phrase: