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OMIM
Online catalog of human genes and genetic disorders, for clinical features, phenotypes and genes. Collection of human genes and genetic phenotypes, focusing on relationship between phenotype and genotype. Referenced overviews in OMIM contain information on all known mendelian disorders and variety of related genes. It is updated daily, and entries contain copious links to other genetics resources.
Details
- Resource Type: Resource, catalog, data or information resource, database
- Keywords: gene, genetics, phenotype, genotype, genetic loci, mutation, clinical, trait, disorder, umls, ontology, gold standard
- Resource ID: SCR_006437
- Proper Citation: (OMIM, RRID:SCR_006437)
- Parent Organization: Johns Hopkins University School of Medicine; Baltimore , Maryland; USA , NCBI , Johns Hopkins University School of Medicine; Baltimore , Maryland; USA , NCBI
- Related Condition: Genetic disorder, Mendelian disorder, Developmental disorder
- Funding Agency:
- Relation: related to: HomoloGene, TopoSNP, phenomeNET, Integrated Gene-Disease Interaction, OMIA - Online Mendelian Inheritance in Animals, Europhenome Mouse Phenotyping Resource, Homophila, Biomine, MalaCards, PhenoTips, KOBAS, Integrated Manually Extracted Annotation, aGEM, biomaRt, used by: HPO - Human Phenotype Ontology, NIF Data Federation, Monarch Initiative, MitoMiner, Schizo-Pi, GEMINI, MARRVEL, HmtPhenome, listed by: BioPortal, OMICtools, works_with: Human Mouse Disease Connection, Database of genes related to Repeat Expansion Diseases
- Reference: PMID:21472891, PMID:19728286, PMID:18842627, PMID:18428346, PMID:17642958, PMID:17357067, PMID:15608251, PMID:15360913, PMID:11752252, PMID:10845565, PMID:10612823, PMID:9805561, PMID:1867277, PMID:7937048, PMID:22477700, PMID:22470145
- Website Status: Last checked up
- Alternate IDs: nif-0000-03216, OMICS_00278
- Alternate URLs: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim, http://www.ncbi.nlm.nih.gov/Omim/, http://purl.bioontology.org/ontology/OMIM
- Old URLs:
- v_uuid: 27ba48ba-cf72-51df-8fdc-e1cef2c898ba
