[J. Amberger, C. A. Bocchini, A. F. Scott, and A. Hamosh. Mckusick’s online mendelian inheritance in man (omim®). Nucleic Acids Research, 37:D793, 2008. ISSN 03051048. doi: 10.1093/NAR/GKN665.
https://pmc.ncbi.nlm.nih.gov/articles/PMC2686440/
Online Mendelian Inheritance in Man (OMIM)
http://www.ncbi.nlm.nih.gov/omim
Entrez databases
http://eutils.ncbi.nlm.nih.gov/entrez/query/static/advancedentrez.html
OMIM® numbers to gene ID numbers
ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene
REFERENCES
1.McKusick VA. On the X Chromosome of Man. Quart. Rev. Biol. 1962;37:69–175. doi: 10.1086/403631.
2.McKusick VA. Mendelian Inheritance in Man, A Catolog of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. 1st edn. Baltimore, MD: Johns Hopkins University Press; 1966.
3.McKusick VA. Mendelian Inheritance in Man, A Catolog of Human Genes and Genetic Disorders. 12th edn. Baltimore, MD: Johns Hopkins University Press; 1998.
4.Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM®), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005;33:514–517. doi: 10.1093/nar/gki033.
Term
Online Mendelian Inheritance in Man (OMIM)
Mendelian Inheritance in Man(MIM)
cystic fibrosis transmembrane conductance regulator gene (CFTR)
β-globin locus (HBB)
sickle haemoglobin (HbS)
Human Gene Mutation Database (HGMD, www.hgmd.cf.ac.uk
Human Genome Variation Society (HGVS, www.hgvs.org/dblist/dblist/html
long QT syndromes (LQT1-10)
UMLS(Unified Medical Language System)
SNOMED (Systematized Nomenclature of Medicine)
Genome-wide association (GWA)
inflammatory bowel disease (IBD)
quantitative trait loci (QTL)
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