• Biology, Medicine, Computer Science
  • Published in Nucleic Acids Research 2015
  • DOI:10.1093/nar/gku1205

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

@inproceedings{Amberger2015OMIMorgOM,
  title={OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders},
  author={Joanna S. Amberger and Carol A. Bocchini and François Schiettecatte and Alan F. Scott and Ada Hamosh},
  booktitle={Nucleic Acids Research},
  year={2015}
}
Highlight Information
Online Mendelian Inheritance in Man, OMIM(®), is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. [...] Key Result OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes.Expand Abstract

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