Cargando…

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Me...

Descripción completa

Detalles Bibliográficos
Autores principales: Hamosh, Ada, Scott, Alan F., Amberger, Joanna S., Bocchini, Carol A., McKusick, Victor A.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC539987/
https://www.ncbi.nlm.nih.gov/pubmed/15608251
http://dx.doi.org/10.1093/nar/gki033
_version_ 1782122097394319360
author Hamosh, Ada
Scott, Alan F.
Amberger, Joanna S.
Bocchini, Carol A.
McKusick, Victor A.
author_facet Hamosh, Ada
Scott, Alan F.
Amberger, Joanna S.
Bocchini, Carol A.
McKusick, Victor A.
author_sort Hamosh, Ada
collection PubMed
description Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.
format Text
id pubmed-539987
institution National Center for Biotechnology Information
language English
publishDate 2005
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-5399872005-01-04 Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders Hamosh, Ada Scott, Alan F. Amberger, Joanna S. Bocchini, Carol A. McKusick, Victor A. Nucleic Acids Res Articles Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics. Oxford University Press 2005-01-01 2004-12-17 /pmc/articles/PMC539987/ /pubmed/15608251 http://dx.doi.org/10.1093/nar/gki033 Text en Copyright © 2005 Oxford University Press
spellingShingle Articles
Hamosh, Ada
Scott, Alan F.
Amberger, Joanna S.
Bocchini, Carol A.
McKusick, Victor A.
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
title Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
title_full Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
title_fullStr Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
title_full_unstemmed Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
title_short Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
title_sort online mendelian inheritance in man (omim), a knowledgebase of human genes and genetic disorders
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC539987/
https://www.ncbi.nlm.nih.gov/pubmed/15608251
http://dx.doi.org/10.1093/nar/gki033
work_keys_str_mv AT hamoshada onlinemendelianinheritanceinmanomimaknowledgebaseofhumangenesandgeneticdisorders
AT scottalanf onlinemendelianinheritanceinmanomimaknowledgebaseofhumangenesandgeneticdisorders
AT ambergerjoannas onlinemendelianinheritanceinmanomimaknowledgebaseofhumangenesandgeneticdisorders
AT bocchinicarola onlinemendelianinheritanceinmanomimaknowledgebaseofhumangenesandgeneticdisorders
AT mckusickvictora onlinemendelianinheritanceinmanomimaknowledgebaseofhumangenesandgeneticdisorders