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2015 ; 43
(Database issue
): D789-98
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
OMIM org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human
genes and genetic disorders
#MMPMID25428349
Amberger JS
; Bocchini CA
; Schiettecatte F
; Scott AF
; Hamosh A
Nucleic Acids Res
2015[Jan]; 43
(Database issue
): D789-98
PMID25428349
show ga
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. The new official website for OMIM,
OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the
published peer-reviewed biomedical literature and is used by overlapping and
diverse communities of clinicians, molecular biologists and genome scientists, as
well as by students and teachers of these disciplines. Genes and phenotypes are
described in separate entries and are given unique, stable six-digit identifiers
(MIM numbers). OMIM entries have a structured free-text format that provides the
flexibility necessary to describe the complex and nuanced relationships between
genes and genetic phenotypes in an efficient manner. OMIM also has a derivative
table of genes and genetic phenotypes, the Morbid Map. 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. Clinical synopsis features are enhanced with
UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links.
All OMIM data are available for FTP download and through an API. MIMmatch is a
novel outreach feature to disseminate updates and encourage collaboration.