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Resource:OMIM

Name: Resource:OMIM
Description: 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.

NIF Houses several 'views' on the OMIM data set below are detailed descriptions of these views.

OMIM: GeneAllelePhenotype: <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.

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.
Other Name(s): OMIM - Online Mendelian Inheritance in Man, Online Mendelian Inheritance in Man
Abbreviation: OMIM, MIM
Parent Organization: Johns Hopkins University School of Medicine; Maryland; USA, Resource:NCBI
Resource Type(s): Database
Resource: Resource
URL: http://omim.org
*Id: nif-0000-03216
PMID: PMID 22477700, 22470145, 21472891, 19728286, 18842627, 18428346, 17642958, 17357067, 15608251, 15360913, 11752252, 10845565, 10612823, 9805561, 7937048, 1867277
Related condition/disease: Genetic disorder, Mendelian disorder, Developmental disorder
Related application: Research, Education
Related to: Resource:NIF Data Federation, Resource:Monarch Initiative, Resource:OMICtools, Resource:BioPortal
Availability: Public, Free for personal use, Free for academic use, Use Agreement, Non-commercial, Commercial use requires license, Copyrighted
Address: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Maryland, USA
Keywords: Gene, Genetics, phenotype, Genotype, Gold standard or authority, genetic loci, mutation, clinical, trait, disorder, UMLS, Ontology
Organism: Human
Link to OWL / RDF: Download this content as OWL/RDF

Categories related to Resource:OMIM

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

Curation status: Uncurated

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Notes

This page uses this default form:Resource

Xref: OMICS_00278

Alt. URL: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim
Alt. URL: http://www.ncbi.nlm.nih.gov/Omim/
Mirror URL: http://us-east.omim.org/
Mirror URL: http://europe.omim.org/
Alt. URL: http://purl.bioontology.org/ontology/OMIM

News & Location

Twitter Handle: @OmimOrg

Latitude: 39.297393, Longitude: -76.59079



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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.

Facts about Resource:OMIMRDF feed
AbbrevOMIM, MIM  +
AddressMcKusick-Nathans Institute of Genetic Medicine  +, Johns Hopkins University School of Medicine  +, Maryland  +, and USA  +
AltURLhttp://www.ncbi.nlm.nih.gov/sites/entrez?db=omim  +, http://www.ncbi.nlm.nih.gov/Omim/  +, and http://purl.bioontology.org/ontology/OMIM  +
AvailabilityPublic  +, Free for personal use  +, Free for academic use  +, Use Agreement  +, Non-commercial  +, Commercial use requires license  +, and Copyrighted  +
CommentContact: NLM Customer Service, custserv (at) nlm.nih.gov
CurationStatuscurated  +
DefiningCitationhttp://omim.org &nbsp;+
DefinitionComprehensive 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.

NIF Houses several 'views' on the OMIM data set below are detailed descriptions of these views. OMIM: GeneAllelePhenotype: <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. 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.
ExampleImageOMIM.PNG  +
Has default formThis property is a special property in this wiki.Resource  +
Has roleDatabase  +
Idnif-0000-03216  +
Is part ofJohns Hopkins University School of Medicine; Maryland; USA  +, and Resource:NCBI  +
KeywordsGene  +, Genetics  +, Phenotype  +, Genotype  +, Genetic loci  +, Mutation  +, Clinical  +, Trait  +, Disorder  +, UMLS  +, Ontology  +, and Gold standard  +
LabelResource:OMIM  +
ModifiedDate30 July 2014  +
PMID22477700, 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  +
RelatedToResource:NIF Data Federation  +, Resource:Monarch Initiative  +, Resource:OMICtools  +, and Resource:BioPortal  +
Related applicationResearch  +, and Education  +
Related diseaseGenetic disorder  +, Mendelian disorder  +, and Developmental disorder  +
SpeciesHuman  +
SuperCategoryResource  +
SynonymOMIM - Online Mendelian Inheritance in Man  +, and Online Mendelian Inheritance in Man  +
TwitterOmimOrg  +
XrefOMICS_00278  +