Online Mendelian Inheritance in Man (OMIM)

URI: https://gptkb.org/entity/Online_Mendelian_Inheritance_in_Man_(OMIM)
GPTKB entity
Statements (50)
Predicate Object
gptkbp:instanceOf gptkb:database
genetics resource
gptkbp:abbreviation gptkb:OMIM
gptkbp:access free for academic and non-profit use
gptkbp:citation gptkb:PubMed
gptkbp:contains gene descriptions
disease descriptions
gene-phenotype relationships
references to scientific literature
gptkbp:countryOfOrigin gptkb:United_States
gptkbp:createdBy gptkb:Victor_A._McKusick
gptkbp:doi 10.1093/nar/gky1151
gptkbp:focusesOn genetic disorders
phenotypes
human genes
gptkbp:hasEntry gptkb:gene
reference
phenotype
over 16,000 entries
allelic variant
clinical synopsis
gene-phenotype relationship
molecular basis
gptkbp:hasGeneCount over 6,000 genes
gptkbp:hasPhenotypeCount over 8,000 phenotypes
gptkbp:hasPrintPredecessor gptkb:Mendelian_Inheritance_in_Man_(MIM)
https://www.w3.org/2000/01/rdf-schema#label Online Mendelian Inheritance in Man (OMIM)
gptkbp:integratesWith gptkb:GeneReviews
gptkb:Orphanet
gptkb:ClinVar
gptkb:Ensembl
gptkb:UCSC_Genome_Browser
gptkb:NCBI_databases
gptkbp:language English
gptkbp:launched 1966
gptkbp:license custom license
gptkbp:maintainedBy gptkb:Johns_Hopkins_University
gptkbp:onlineSince 1987
gptkbp:recognizedBy OMIM ID
gptkbp:subjectArea genomics
medical genetics
rare diseases
gptkbp:updated daily
gptkbp:usedBy gptkb:researchers
students
clinicians
genetic counselors
gptkbp:website https://omim.org/
gptkbp:bfsParent gptkb:Victor_A._McKusick
gptkbp:bfsLayer 5