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copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,1,version1,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,2,anonlinecatalogofhumangenes&geneticdisordersmaterialspreparedby:jenniferwilliams,ph.d,omim:onlinemendelianinheritanceinman,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,3,omimdatabase:,omimagenda,introduction&creditsbasicsearchphenotyperesultsgeneresultsgenemapinformationadvancedsearchadditionalfeaturessummaryexercises,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,4,omim:morethanyoumightthink,/omim,full-textsummariesofageneorphenotype,clinicalsynopsisofdisease,newfaceofomim,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,5,omimhomepage&credits:,,,click,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,6,omimscopeandhistory,/pmc/articles/pmc1852721/,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,7,omimstatistics,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,8,omimcontent:scopeofphenotypes,omimfocuseson:single-genemendeliandisease/disorders/phenotypes(including:cysticfibrosis,sicklecellanemia,achondroplasia,phenotypictraitssuchashairandeyecolor,susceptibilitytodrugreactionasinmalignanthyperthermiaandwarfarinsensitivity,alteredreactiontoinfectionsuchasherpessimplexencephalitisandprogressiontoaidsinhivinfection,germlinesusceptibilitiestocancersuchasbrca1andbreast/ovariancancer,etc.)complexdiseaseswithsignificantsinglegenecontribution(suchas:complementfactorhandagerelatedmaculardegeneration)descriptionsofrecurrentdeletionandduplicationsyndromes(e.g.,potocki-shaffersyndrome,andchromosome10q26deletionsyndrome),copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,9,omimdisclaimer,note:omimisintendedforuseprimarilybyphysiciansandotherprofessionalsconcernedwithgeneticdisorders,bygeneticsresearchers,andbyadvancedstudentsinscienceandmedicine.whiletheomimdatabaseisopentothepublic,usersseekinginformationaboutapersonalmedicalorgeneticconditionareurgedtoconsultwithaqualifiedphysicianfordiagnosisandforanswerstopersonalquestions.,thistutorialisnotasubstituteformedicaltraining,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,10,omimhomepagetabs,clear,concisedocumentationfromomim,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,11,omimdatabase:,omimagenda,introduction&creditsbasicsearchphenotyperesultsgeneresultsgenemapinformationadvancedsearchadditionalfeaturessummaryexercises,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,12,basicsearch,spinocerebellarataxia,examples,basicsearchresults,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,13,highlight,highlight,highlight,clicktoopen,clinicalsynopsesresults,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,14,basicsearchresults,cont.,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,15,thesaurusoptions,matchingterms,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,16,matchingterms,oneterm,basicsearchresults:links,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,17,resultdisplays:mimnumbers,etc.,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,18,click,/help/faq#1.2,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,19,omimdatabase:,omimagenda,introduction&creditsbasicsearchphenotyperesultsgeneresultsgenemapinformationadvancedsearchadditionalfeaturessummaryexercises,phenotypeentry,top,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,20,fullentry,expandabletoc,expandablelinks,phenotypegenerelationshipsarea,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,21,genemap,phenotypeentry,geneentry,click,phenotypicseries,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,22,similarphenotypes,phenotypicseries,differentgeneticlocations,aquickviewofsimilarphenotypesacrossthegenome,click,clinicalsynopsis,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,23,clinicalsynopsis,providesanoverviewoftheclinicalfeaturesofaphenotype,associatedgene/locus,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,24,click,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,25,omimdatabase:,omimagenda,introduction&creditsbasicsearchphenotyperesultsgeneresultsgenemapinformationadvancedsearchadditionalfeaturessummaryexercises,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,26,omimgeneentry,expandabletoc,fullentry,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,27,allelicvariation,tableviewofallelicvariants,expandabletoc,genecftrstableview,/help/faq#1.4,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,28,externallinksforgenes:genome,byopenhelix,externallinks,copyrightopenhelix.nouseorreproductionwithoutexpresswrittenconsent,29,externallinksforgenes:geneinfo,expandabletoc,copyrightopenhelix.nouseorreproductionwithout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