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Topic: OMIM


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In the News (Sun 5 Jul 09)

  
  OMIM FAQ
OMIM focuses primarily on inherited, or heritable, genetic diseases.
OMIM is based upon the text Mendelian Inheritance in Man, authored and edited by Dr. Victor A. McKusick and a team of science writers and editors at Johns Hopkins University and elsewhere.
The OMIM database covers approximately 4000 genetic conditions, but this number is based on the particular scope of OMIM, which are disorders inherited in a Mendelian manner.
www.louisville.edu /~emsmig01/omim/faq.htm   (3174 words)

  
 Searching OMIM
OMIM records link to the citations and abstracts of the sources for this research.
Since OMIM was the source for the genes, traits, and disorders on each chromosome of the Human Genome Landmarks poster, it is a key resource for finding more information about what is listed on the poster.
For example, the OMIM entry for the HFE gene is more than 50 printed pages long, while an OMIM entry for another condition that researchers know little about may only be 1 or 2 pages long.
www.ornl.gov /sci/techresources/Human_Genome/posters/chromosome/omim.shtml   (2689 words)

  
 OMIM FAQs
Because the scope of OMIM is limited to disorders inherited in a Mendelian manner, the number of records in the database does not represent the number of human diseases that are caused by mutations, or by chromosomal aberrations.
OMIM is not truly relational, although some aspects of record tracking (MIM number, create date, update dates) are managed in a relational database.
OMIM is funded by a contract from the National Library of Medicine and the National Human Genome Research Institute and by licensing fees paid to the Johns Hopkins University by commercial entities for adaptations of the database.
www.ncbi.nlm.nih.gov /Omim/omimfaq.html   (5059 words)

  
 OMIM Home
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
The images associated with some OMIM entries are links to an image archive at the Neonatology on the Web site which is solely responsible for the online publishing of these images.
OMIM is a trademark of the Johns Hopkins University.
www.louisville.edu /~emsmig01/omim   (202 words)

  
 ooBdoo
The online version is called Online Mendelian Inheritance in Man (OMIM), which can be accessed with the Entrez database searcher of the National Library of Medicine.
OMIM™ and Online Mendelian Inheritance in Man™ are trademarks of the Johns Hopkins University.
The information in this database is collected and processed under the leadership of Dr. Victor A. McKusick at Johns Hopkins University, assisted by a team of science writers and editors.
www.oobdoo.com /wikipedia/?title=OMIM   (271 words)

  
 Boulder::Omim - Fetch Omim data records as parsed Boulder Stones
It returns Omim entries in the Stone manpage format, allowing easy access to the various fields and values.
It is also possible to parse a single Omim entry from a text string stored in a scalar variable, returning a Stone object.
The tags returned by the parsing operation are taken from the names shown in the network Entrez interface to Omim.
stein.cshl.org /software/boulder/docs/Boulder/Omim.html   (594 words)

  
 Spencer S. Eccles Health Sciences Library, University of Utah Health Sciences Center
OMIM is a database of human genes and genetic disorders.
OMIM is still curated at the Johns Hopkins School of Medicine and updated daily.
OMIM is open to the public but targeted to a professional audience as e.g., physicians, genetics researchers and students in science and medicine.
www-medlib.med.utah.edu /ed/helixhelper/ncbi101b.php?layout=print   (2441 words)

  
 Bioline International Official Site (site up-dated regularly)
A number of symbols are also used in conjunction with the OMIM number, and an explanation of these is available in the OMIM FAQs section on the website.
The OMIM morbid map is an alphabetical list of disorders and their cytogenetic locations.
OMIM does not have a complete list of all genetic disorders contained in it; these have to be searched by name or symbol.
www.bioline.org.br /request?dv03083   (883 words)

  
 How to Use OMIM
These may range from a single item if you are searching for an OMIM number to more than you would expect if your entry does not exactly match anything in the database or if you do not limit the search fields.
From an evolutionary perspective, this is valid, since the human genome does in fact contain the badly mutated remnants of the ancestral L-gulonolactone oxidase gene (sometimes called the L-gulonolactone oxidase pseudogene).
Caution must be exercised in interpreting what is presented, however, because exact gene order is still not known in many cases, although it soon should be as data from the human genome project are processed.
www.colorado.edu /MCDB/MCDB2150Fall/OMIM.html   (717 words)

  
 DisMaps - Disease-causing mutations and protein structure
OMIM - via the OMIM code, describing the disease in question, its clinical symptoms, allelic variants, and detailed references to the literature.
In these cases, the residues cannot be located in the sequence, and hence cannot be coloured by the program.
This file was used for extracting and interpreting the "allelic variants" associated with each OMIM entry.
www.biochem.ucl.ac.uk /bsm/humgen/desc.html   (888 words)

  
 UNSW Embryology- OMIM References
Selected OMIM references can also be found on the Abnormalities (page 2) of each section of Notes.
For those wanting to see the process of development in other species then the other embryos pages are a good start.
It outlines how OMIM were searched, selected and cited as well as where to find relevant reference pages and to carry out new searches of the OMIM database.
embryology.med.unsw.edu.au /OMIMfind/OMIM.htm   (470 words)

  
 OMNI ~ Online Mendilian Inheritance of Man
OMIM help document provides additional information and examples of basic and advanced searches.
The links to the left on the OMIM screen provide further technical information, searching options, frequently asked questions (FAQ), and information on allied resources.
To return to the OMIM main page, click on the OMIM link in the fl header bar or on the graphic at the top of any OMIM page.
www.colorado.edu /chemistry/bioinfo/OMIM.htm   (321 words)

  
 Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders -- Hamosh et al. 30 ...
OMIM is an authoritative full-text overview of genes and genetic
Growth of the database in terms of numbers of entries in each edition of MIM and in OMIM on October 1, 2001.
OMIM’s Synopsis of the Human Gene Map is maintained as
nar.oxfordjournals.org /cgi/content/full/30/1/52   (2514 words)

  
 OMIM™, GeneReviews, and GARD: Three Resources for Genetics Clinicians and Researchers   (Site not responding. Last check: 2007-10-20)
OMIM is updated daily and focuses primarily on inherited, or heritable, genetic diseases.
OMIM can be searched in one of three ways: Search OMIM, Search Gene Map, or Search Morbid Map.
Search OMIM is the Entrez-based search interface to OMIM, which allows basic, advanced, or complex Boolean searching.
nihlibrary.nih.gov /Features/clinicalresources.htm   (375 words)

  
 Internet Search Assignment
Too be sure the gene has been cloned look for the "DNA" button near the top of the OMIM report, if you don't see the DNA button look for another gene.
There is a grading rubric for this assignment that you might find useful.
This includes mouse genes along with OMIM and can also be used to search for information about human genes.
www.csuchico.edu /~jbell/Biol207/search.html   (739 words)

  
 Mendelian Inheritance in Man - Wikipedia, the free encyclopedia
Baltimore, MD: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man (to search OMIM)
This page was last modified 18:37, 11 October 2006.
en.wikipedia.org /wiki/OMIM   (278 words)

  
 eMedicine - Rubinstein-Taybi Syndrome : Article Excerpt by: Sulagna C Saitta, MD, PhD   (Site not responding. Last check: 2007-10-20)
Deletions in band 16p13 have been described in association with this disorder, and mutations in the cyclic adenosine monophosphate (cAMP) response element binding (CREB) protein gene (OMIM #600140) that maps to this region have also been demonstrated.
More recently, mutations in the EP300 gene (OMIM #602700), a similar transcriptional coactivator located on chromosome 22q13, have also been found in patients with a Rubinstein-Taybi syndrome (RSTS) phenotype.
Feeding difficulties are common in infancy and, together with the genetically based growth retardation characteristic of this syndrome, often result in a clinical picture of failure to thrive.
www.emedicine.com /ped/byname/rubinstein-taybi-syndrome.htm   (563 words)

  
 CCR: NIGMS HGCR Pathway display
Cell lines with OMIM classifications that are restricted to single cell types (e.g., sickle cell anemia), cell lines with OMIM classifications with no known cellular phenotype (e.g., manic depression), or cellular localization of affected gene product was unknown and chromosomal abnormalities (e.g., Downs syndrome) are not included.
In the Cell Diagram over 275 OMIM classifications are represented.
The assignments of gene products to cell components was based on information in OMIM, the BRENDA database, Lehninger Principles of Biochemistry 3rd Edition (Worth Publishers, 2000), Molecular Cell Biology 4.0 (Freeman Press, 2000) and references therein.
ccr.coriell.org /nigms/pathways/cell_diagram.html   (223 words)

  
 Molecular Biology of Adenosine Triphosphate-Sensitive Potassium Channels -- Aguilar-Bryan and Bryan 20 (2): 101 -- ...
OMIM 219700), which is due to reduced chloride ion transport resulting
(Dent’s disease; OMIM 300009), an X-linked recessive disorder.
(OMIM 177200), which is associated with hypertension and hypokalemia.
edrv.endojournals.org /cgi/content/full/20/2/101   (6787 words)

  
 CiteULike: Tag omim   (Site not responding. Last check: 2007-10-20)
Automated text-mining of Online Mendelian Inheritance in Man (OMIM) to identify genetically-associated cancers and candidate genes.
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
Association of genes to genetically inherited diseases using data mining.
www.citeulike.org /tag/omim   (216 words)

  
 Cancer Pathology and Molecular Biology - CancerIndex
Cancer of Colon - Genetic Information (USA) A referenced statement from the OMIM database, produced by the National Center for Biotechnology Information.
Cell Growth and Differentiation A journal of the American Association for Cancer Research.
Online Mendelian Inheritance in Man (OMIM) (National Center for Biotechnology Information, USA) a searchable database which catalogues human genes and genetic disorders with links to Medline Citations.
www.cancerindex.org /clinks4m.htm   (2893 words)

  
 The SCID Homepage
OMIM Entry 600173 JANUS KINASE 3; JAK3 SCID
OMIM Entry 209920 BARE LYMPHOCYTE SYNDROME, TYPE II Entry 603554 OMENN SYNDROME
OMIM Entry 242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS, NEZELOF SYNDROME
www.scid.net /scidpid.htm   (758 words)

  
 MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of disease genes described in OMIM.
For a map organized by chromosome, see the OMIM Gene Map.
For more refined maps of genes and DNA segments, use NCBI Entrez Map Viewer and the Genome Data Base.
www.mad-cow.org /00/omim_cds.html   (45 words)

  
 OMIM Home Page -- Online Mendelian Inheritance in Man
The OMIM Morbid Map, a catalog of genetic diseases and their cytogenetic map locations arranged alphabetically by disease, is now available.
The OMIM Gene Map key (about 6 kilobytes)
For questions about the OMIM database in general,
www.nslij-genetics.org /search_omim.html   (181 words)

  
 OMIM for Alport Syndrome   (Site not responding. Last check: 2007-10-20)
The present avatar of the immortal classic by Victor A. McKusick, M.D., is Online Mendelian Inheritance in Man (OMIM).
Search of OMIM for the term "Alport" yielded 29 supposedly single-gene traits with OMIM Numbers, each of which may be reviewed online.
The genetic and phenotypic heterogeneity of Alport syndrome are reflected here, yet not all traits cataloged are Alport syndrome: some are clearly distinct nephropathies or other conditions that OMIM compares to, or distinguishes from, Alport syndrome.
www.cc.utah.edu /~cla6202/ON4AS.htm   (103 words)

  
 Homophila: human disease gene cognates in Drosophila -- Chien et al. 30 (1): 149 -- Nucleic Acids Research
Online Mendelian Inheritance in Man (OMIM) (5) is a catalog
Information related to the human disease is shown in blue on the left.
Hyperlinks in the references column provide direct access to the OMIM entry, MEDLINE literature references, and the DNA and protein query sequences.
nar.oxfordjournals.org /cgi/content/full/30/1/149   (1188 words)

  
 List of OMIM entries related to P450-containing systems (via CobWeb/3.1 planetlab2.netlab.uky.edu)   (Site not responding. Last check: 2007-10-20)
List of OMIM entries related to P450-containing systems (via CobWeb/3.1 planetlab2.netlab.uky.edu)
List of OMIM entries related to P450-containing systems
Last modified: Fri Aug 6 17:25:06 BST 2004
www.icgeb.embnet.org.cob-web.org:8888 /~p450srv/omim.html   (44 words)

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