Online Mendelian Inheritance in Man Resource

Description Online Mendelian Inheritance in Man is a database of human phenotypes (e.g. diseases) with known genetic basis. Each entry in OMIM summarizes the current state of knowledge about a gene or phenotype, with a focus on inheritance. Genotype/phenotype associations are summarized in a document called the Morbid Map, which lists phenotypes alongside the genes that have mutations known to play a role in manifestation of the phenotype.
Citation(s)
Acronym OMIM
External Link http://www.omim.org/

Datasets

Dataset Description Category Attribute Views
Gene-Disease Associations disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications disease or phenotype associations phenotype 1173