URL: http://omim.org
Proper Citation: OMIM (RRID:SCR_006437)
Description: Online catalog of human genes and genetic disorders, for clinical features, phenotypes and genes. Collection of human genes and genetic phenotypes, focusing on relationship between phenotype and genotype. Referenced overviews in OMIM contain information on all known mendelian disorders and variety of related genes. It is updated daily, and entries contain copious links to other genetics resources.
Abbreviations: OMIM, MIM
Synonyms: Online Mendelian Inheritance in Man, OMIM - Online Mendelian Inheritance in Man, MIM, The Online Mendelian Inheritance in Man Morbid Map
Resource Type: catalog, data or information resource, database
Defining Citation: PMID:22477700, PMID:22470145, PMID:21472891, PMID:19728286, PMID:18842627, PMID:18428346, PMID:17642958, PMID:17357067, PMID:15608251, PMID:15360913, PMID:11752252, PMID:10845565, PMID:10612823, PMID:9805561, PMID:7937048, PMID:1867277
Keywords: gene, genetics, phenotype, genotype, genetic loci, mutation, clinical, trait, disorder, umls, ontology, gold standard, FASEB list
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Johns Hopkins University School of Medicine; Baltimore, Maryland; USA |
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