2000 | Ada Hamosh, Alan F. Scott, Joanna Amberger, David Valle, and Victor A. McKusick
Online Mendelian Inheritance in Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Originally created by Dr. Victor McKusick as the authoritative reference "Mendelian Inheritance in Man," it is now distributed electronically by the National Center for Biotechnology Information (NCBI). OMIM provides authoritative free text overviews of genetic disorders and gene loci, with detailed information on each entry, including clinical features, molecular genetics, inheritance patterns, and links to other genetic resources. OMIM is a major gateway for clinicians, students, and researchers in human genetics, offering a comprehensive, authoritative, and timely compendium of information.
OMIM is curated by the Johns Hopkins University School of Medicine and maintained by NCBI. It includes detailed information on genes, disorders, and their relationships, with entries organized by gene locus. OMIM's features include a standardized format, clinical synopses, allelic variants, and links to other databases. The database also includes a "neighboring" feature that allows users to search MEDLINE for articles related to the text of an OMIM entry. OMIM is continually updated with new entries and changes, and it serves as a valuable resource for genetic research and clinical diagnosis.
OMIM's future is promising as it continues to grow with the identification of new genes and the increasing understanding of genetic disorders. It aims to remain a central resource for the genetics community, providing a Rosetta Stone for understanding the relationships between genes and diseases. OMIM is maintained with a focus on accuracy, thoroughness, and timeliness, ensuring it remains a key resource for genetic research and clinical practice.Online Mendelian Inheritance in Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Originally created by Dr. Victor McKusick as the authoritative reference "Mendelian Inheritance in Man," it is now distributed electronically by the National Center for Biotechnology Information (NCBI). OMIM provides authoritative free text overviews of genetic disorders and gene loci, with detailed information on each entry, including clinical features, molecular genetics, inheritance patterns, and links to other genetic resources. OMIM is a major gateway for clinicians, students, and researchers in human genetics, offering a comprehensive, authoritative, and timely compendium of information.
OMIM is curated by the Johns Hopkins University School of Medicine and maintained by NCBI. It includes detailed information on genes, disorders, and their relationships, with entries organized by gene locus. OMIM's features include a standardized format, clinical synopses, allelic variants, and links to other databases. The database also includes a "neighboring" feature that allows users to search MEDLINE for articles related to the text of an OMIM entry. OMIM is continually updated with new entries and changes, and it serves as a valuable resource for genetic research and clinical diagnosis.
OMIM's future is promising as it continues to grow with the identification of new genes and the increasing understanding of genetic disorders. It aims to remain a central resource for the genetics community, providing a Rosetta Stone for understanding the relationships between genes and diseases. OMIM is maintained with a focus on accuracy, thoroughness, and timeliness, ensuring it remains a key resource for genetic research and clinical practice.