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Category:Resource:The Online Mendelian Inheritance in Man Morbid Map
Abbrev OMIM, MIM  +
Address McKusick-Nathans Institute of Genetic Medicine  +, Johns Hopkins University School of Medicine  +, Maryland  +, USA  +
AltURL http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim  +, http://www.ncbi.nlm.nih.gov/Omim/  +, http://purl.bioontology.org/ontology/OMIM  +
Availability Public +, Free for personal use +, Free for academic use +, Use Agreement +, Non-commercial +, Commercial use requires license +, Copyrighted +
Comment Contact: NLM Customer Service, custserv (at) nlm.nih.gov
CurationStatus curated  +
DefiningCitation http://omim.org  +
Definition Comprehensive compendium of human genes an Comprehensive compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.<br /> NIF Houses several 'views' on the OMIM data set below are detailed descriptions of these views. OMIM: GeneAllelePhenotype: <span class="nifTabHeader"> <a class="external" target="_blank" href="http://omim.org/">OMIM DiseaseGeneAssociation View </a> is organized by the OMIM phenotype/disease identifiers, and collects all genes that are annotated to a given phenotype.  It also fetches the text that is annotated directly to the disease (rather than to the genes annotated to the disease).  Since OMIM attributes several names to the same phenotype, this makes synonyms to the phenotype, using the preferredtitle as the official phenotype name.  Unfortunately, these different names don't carry any different kind of identifier, so they are only synonyms.  The indicated pubmed ids are those annotated directly to the phenotype, and not to the associated genes.</span> The GeneAllelePhenotype view is the gene-allele-phenotype table from OMIM. Annotations are recorded at both the gene and allelic variant level. This table reflects the allelic phenotypes that do not reference the omim phenotype identifiers directly. The OMIM GenePhenotype view is organized by OMIM gene ids, giving us a high-level gene-phenotype table, with each gene possibly having more than one row (indicating different phenotypes).  This includes the gene mapping information, including cytogenic location, coordinates (by locus or gene mapping), and gene xrefs.  Both the phenotypic inheritance and locus inheritance are included, The information about the genome build from which the coords are drawn is located in OMIM's <a href="http://www.omim.org/help/faq#1.13">faq</a>.  This view currently mixes both identified genes, and not-yet-cloned loci, which is most-often reflected in null values for the gene-symbol.  Sometimes there are phenotypes that do not have OMIM phenotype ids, and therefore they aren't in the disease-gene-association view, nor would they be in the gene-allele-disease view. d they be in the gene-allele-disease view.
ExampleImage OMIM.PNG +
Has default formThis property is a special property in this wiki. Resource  +
Has role Database +
Id nif-0000-03216  +
Is part of Johns Hopkins University School of Medicine; Maryland; USA +, Resource:NCBI +
Keywords Gene +, Genetics +, Phenotype +, Genotype +, Genetic loci +, Mutation +, Clinical +, Trait +, Disorder +, UMLS +, Ontology +, Gold standard +
Label Resource:OMIM  +
Listedby Resource:BioPortal +
Modification dateThis property is a special property in this wiki. 11 December 2014 15:38:35  +
ModifiedDate 11 December 2014  +
PMID 22477700, 22470145, 21472891, 19728286, 18842627, 18428346, 17642958, 17357067, 15608251, 15360913, 11752252, 10845565, 10612823, 9805561, 7937048, 1867277  +
Page has default formThis property is a special property in this wiki. Resource  +
RelatedTo Resource:OMICtools +
Related application Research  +, Education  +
Related disease Genetic disorder +, Mendelian disorder +, Developmental disorder +
Species Human +
SuperCategory Resource  +
Synonym OMIM - Online Mendelian Inheritance in Man  +, Online Mendelian Inheritance in Man  +
Twitter OmimOrg  +
Usedby Resource:NIF Data Federation +, Resource:Monarch Initiative +
Xref OMICS_00278  +
Categories Resource
redirect page Resource:OMIM
hide properties that link here 
Resource:Biomine +, Resource:Europhenome Mouse Phenotyping Resource +, Resource:HomoloGene +, Resource:Homophila +, Resource:Integrated Gene-Disease Interaction +, Resource:Integrated Manually Extracted Annotation +, Resource:KOBAS +, Resource:MalaCards +, Resource:MitoMiner +, Resource:OMIA - Online Mendelian Inheritance in Animals +, Resource:PhenoTips +, Resource:TopoSNP +, Resource:aGEM +, Resource:phenomeNET + RelatedTo
Resource:HPO - Human Phenotype Ontology + Uses
 

 

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*Note: Neurolex imports many terms and their ids from existing community ontologies, e.g., the Gene Ontology. Neurolex, however, is a dynamic site and any content beyond the identifier should not be presumed to reflect the content or views of the source ontology. Users should consult with the authoritative source for each ontology for current information.