@prefix : <https://w3id.org/hereditary/ontology/genomics/schema/> .
@prefix bto: <https://w3id.org/brainteaser/ontology/schema/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix xml: <http://www.w3.org/XML/1998/namespace> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@base <https://w3id.org/hereditary/ontology/genomics/schema/> .

<https://w3id.org/hereditary/ontology/genomics/schema/> rdf:type owl:Ontology ;
                                                         owl:versionIRI <https://w3id.org/hereditary/ontology/genomics/1.0/> ;
                                                         owl:imports <http://www.w3.org/2004/02/skos/core> ;
                                                         <http://purl.org/dc/elements/1.1/title> "The Hereditary Ontology for Genomic Data"@en ;
                                                         <http://purl.org/dc/terms/creator> <https://orcid.org/0000-0002-0676-682X> ,
                                                                                            <https://orcid.org/0000-0003-4970-4554> ;
                                                         <http://purl.org/dc/terms/description> "The Hereditary ontology for Genomic Data models models genetic data following GA4GH standards like the Beacon v2 data model."@en ;
                                                         <http://purl.org/dc/terms/license> """Copyright 2024-2027 University of Padua, Italy

Licensed under the

Creative Commons Attribution 4.0 International License
     https://creativecommons.org/licenses/by/4.0/

You may obtain a copy of the License at
     https://creativecommons.org/licenses/by/4.0/legalcode

This work has been supported by the HEREDITARY project
     https://hereditary-project.eu/

     funded by the European Union’s Horizon Europe research and innovation programme 
     under the grant agreement No GA101137074"""@en ;
                                                         owl:versionInfo 1.0 .

#################################################################
#    Annotation properties
#################################################################

###  http://purl.org/dc/elements/1.1/rights
<http://purl.org/dc/elements/1.1/rights> rdf:type owl:AnnotationProperty .


###  http://purl.org/dc/elements/1.1/title
<http://purl.org/dc/elements/1.1/title> rdf:type owl:AnnotationProperty .


###  http://purl.org/dc/terms/conformsTo
<http://purl.org/dc/terms/conformsTo> rdf:type owl:AnnotationProperty .


###  http://purl.org/dc/terms/contributor
<http://purl.org/dc/terms/contributor> rdf:type owl:AnnotationProperty .


###  http://purl.org/dc/terms/creator
<http://purl.org/dc/terms/creator> rdf:type owl:AnnotationProperty .


###  http://purl.org/dc/terms/license
<http://purl.org/dc/terms/license> rdf:type owl:AnnotationProperty .


###  http://purl.org/dc/terms/publisher
<http://purl.org/dc/terms/publisher> rdf:type owl:AnnotationProperty .


###  http://xmlns.com/foaf/0.1/name
<http://xmlns.com/foaf/0.1/name> rdf:type owl:AnnotationProperty .


#################################################################
#    Datatypes
#################################################################

###  http://www.w3.org/1999/02/22-rdf-syntax-ns#PlainLiteral
rdf:PlainLiteral rdf:type rdfs:Datatype .


#################################################################
#    Object Properties
#################################################################

###  http://www.w3.org/2000/01/rdf-schema#member
rdfs:member rdf:type owl:ObjectProperty .


###  https://w3id.org/hereditary/ontology/genomics/schema/ageRangeEnd
:ageRangeEnd rdf:type owl:ObjectProperty ;
             rdfs:domain :AgeRange ;
             rdfs:range :Age ;
             rdfs:comment "The end age range."@en ;
             rdfs:label "ageRangeEnd"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/ageRangeStart
:ageRangeStart rdf:type owl:ObjectProperty ;
               rdfs:domain :AgeRange ;
               rdfs:range :Age ;
               rdfs:comment "The start age range."@en ;
               rdfs:label "ageRangeStart"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/alleleOrigin
:alleleOrigin rdf:type owl:ObjectProperty ;
              rdfs:domain :CaseLevelVariant ;
              rdfs:range :AlleleOrigin ;
              rdfs:comment "Links the case level variant to the allele origin."@en ;
              rdfs:label "alleleOrigin"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/analysis
:analysis rdf:type owl:ObjectProperty ;
          rdfs:domain :CaseLevelVariant ;
          rdfs:range :Analysis ;
          rdfs:comment "Links the case level variant to the bioinformatics analysis."@en ;
          rdfs:label "analysis"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/annotatedWith
:annotatedWith rdf:type owl:ObjectProperty ;
               rdfs:domain :PhenoClinicEffect ;
               rdfs:range :SoftwareTool ;
               rdfs:comment "Links the pehnoclinic effect to the software tool used to annotate it."@en ;
               rdfs:label "annotatedWith"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/assay
:assay rdf:type owl:ObjectProperty ;
       rdfs:domain :Measurement ;
       rdfs:range :Assay ;
       rdfs:comment "Links the measurement to the assay used to produce the measurement."@en ;
       rdfs:label "assay"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/biosample
:biosample rdf:type owl:ObjectProperty ;
           rdfs:domain [ rdf:type owl:Class ;
                         owl:unionOf ( :Analysis
                                       :CaseLevelVariant
                                       :Run
                                     )
                       ] ;
           rdfs:range :Biosample ;
           rdfs:comment "Links the case level variant to its biosample."@en ;
           rdfs:label "biosample"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/biosampleStatus
:biosampleStatus rdf:type owl:ObjectProperty ;
                 rdfs:domain :Biosample ;
                 rdfs:range :BiosampleStatus ;
                 rdfs:comment "Links the biosample to its status."@en ;
                 rdfs:label "biosampleStatus"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/caseLevelData
:caseLevelData rdf:type owl:ObjectProperty ;
               rdfs:domain :GenomicVariation ;
               rdfs:range :CaseLevelVariant ;
               rdfs:comment "Links the considered genomic variation to variation instances observed in individual analyses."@en ;
               rdfs:label "caseLevelData"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/category
:category rdf:type owl:ObjectProperty ;
          rdfs:domain :PhenoClinicEffect ;
          rdfs:range :PhenoClinicCategory ;
          rdfs:comment "Links the phenoclinic effect to the type of disease, condition, phenotypics measurement, etc."@en ;
          rdfs:label "category"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/chromosomeSpecies
:chromosomeSpecies rdf:type owl:ObjectProperty ;
                   rdfs:domain :ChromosomeLocation ;
                   rdfs:range :Species ;
                   rdfs:comment "Links a chromosome location to the species."@en ;
                   rdfs:label "chromosomeSpecies"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/clinicalInterpretation
:clinicalInterpretation rdf:type owl:ObjectProperty ;
                        rdfs:domain [ rdf:type owl:Class ;
                                      owl:unionOf ( :CaseLevelVariant
                                                    :VariantLevelData
                                                  )
                                    ] ;
                        rdfs:range :PhenoClinicEffect ;
                        rdfs:comment "Links the variant level data and case level variant to its phenoclinic effects."@en ;
                        rdfs:label "clinicalInterpretation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortAgeRange
:cohortAgeRange rdf:type owl:ObjectProperty ;
                rdfs:domain :CohortCriteria ;
                rdfs:range :AgeRange ;
                rdfs:comment "Individual age range in cohort inclusion criteria. [Definition Source: Beacon v2 Data Model]"@en ;
                rdfs:label "cohortAgeRange"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortDataType
:cohortDataType rdf:type owl:ObjectProperty ;
                rdfs:domain :Cohort ;
                rdfs:range :CohortDataType ;
                rdfs:comment "Links a cohort to the types of information."@en ;
                rdfs:label "cohortDataType"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortDesign
:cohortDesign rdf:type owl:ObjectProperty ;
              rdfs:domain :Cohort ;
              rdfs:range :CohortDesign ;
              rdfs:comment "Links a cohort to the cohort type by its design."@en ;
              rdfs:label "cohortDesign"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortDisease
:cohortDisease rdf:type owl:ObjectProperty ;
               rdfs:domain :CohortCriteria ;
               rdfs:range :CohortDisease ;
               rdfs:comment "Diseases in cohort inclusion criteria. [Definition Source: Beacon v2 Data Model]"@en ;
               rdfs:label "cohortDisease"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortEthnicity
:cohortEthnicity rdf:type owl:ObjectProperty ;
                 rdfs:domain :CohortCriteria ;
                 rdfs:comment "Ethnicities in cohort inclusion criteria. [Definition Source: BEacon v2 Data Model]"@en ;
                 rdfs:label "cohortEthnicity"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortLocation
:cohortLocation rdf:type owl:ObjectProperty ;
                rdfs:domain :CohortCriteria ;
                rdfs:range :GeographicLocation ;
                rdfs:comment "Geographic location(s) in cohort inclusion criteria. [Definition Source: Beacon v2 Data Model]"@en ;
                rdfs:label "cohortLocation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortSex
:cohortSex rdf:type owl:ObjectProperty ;
           rdfs:domain :CohortCriteria ;
           rdfs:range :CohortSex ;
           rdfs:comment "Sex(es) in cohort inclusion criteria. [Definition Source: Beacon v2 Data Model]"@en ;
           rdfs:label "cohortSex"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/collectionEvent
:collectionEvent rdf:type owl:ObjectProperty ;
                 rdfs:domain :Cohort ;
                 rdfs:range :CollectionEvent ;
                 rdfs:comment "Links a cohort to the collection event."@en ;
                 rdfs:label "collectionEvent"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cytobandInterval
:cytobandInterval rdf:type owl:ObjectProperty ;
                  rdfs:domain :ChromosomeLocation ;
                  rdfs:range :CytobandInterval ;
                  rdfs:comment "Links a chromosome location to the cytoband interval."@en ;
                  rdfs:label "cytobandInterval"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/diagnosticMarker
:diagnosticMarker rdf:type owl:ObjectProperty ;
                  rdfs:domain :Biosample ;
                  rdfs:range :DiagnosticMarker ;
                  rdfs:comment "Links a biosample to clinically relevant biomarkers."@en ;
                  rdfs:label "diagnosticMarker"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/diseaseAgeOnset
:diseaseAgeOnset rdf:type owl:ObjectProperty ;
                 rdfs:domain :CohortDisease ;
                 rdfs:range :TimeElement ;
                 rdfs:comment "Links the disease to the the age at which an individual first experiences the disease."@en ;
                 rdfs:label "diseaseAgeOnset"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/diseaseCode
:diseaseCode rdf:type owl:ObjectProperty ;
             rdfs:domain :CohortDisease ;
             rdfs:comment "Links the disease to the disease identifier."@en ;
             rdfs:label "diseaseCode"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/diseaseStage
:diseaseStage rdf:type owl:ObjectProperty ;
              rdfs:domain :CohortDisease ;
              rdfs:range :DiseaseStage ;
              <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1707790> ;
              rdfs:comment "Links the disease to the stage."@en ;
              rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_R88> ;
              rdfs:label "diseaseStage"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/distribution
:distribution rdf:type owl:ObjectProperty ;
              rdfs:domain :DataAvailabilityAndDistribution ;
              rdfs:range :ElementDistribution ;
              rdfs:comment "Links the aggregated information to the results or counts for each category."@en ;
              rdfs:label "distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/effect
:effect rdf:type owl:ObjectProperty ;
        rdfs:domain :PhenoClinicEffect ;
        rdfs:comment "Links the phenoclinic effect class to the annotated phenotypic or clinical effect"@en ;
        rdfs:label "effect"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/elementType
:elementType rdf:type owl:ObjectProperty ;
             rdfs:domain :ElementDistribution ;
             rdfs:comment "Links the element distribution to the category."@en ;
             rdfs:label "elementType"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/eventDistribution
:eventDistribution rdf:type owl:ObjectProperty ;
                   rdfs:domain :CollectionEvent ;
                   rdfs:range :DataAvailabilityAndDistribution ;
                   rdfs:comment "Links a collection event to aggregated information obtained from individual level info of the cohort members."@en ;
                   rdfs:label "eventDistribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/eventTimeline
:eventTimeline rdf:type owl:ObjectProperty ;
               rdfs:domain :CollectionEvent ;
               rdfs:range :EventTimeline ;
               rdfs:comment "Links a Collection Event to the Event Timeline."@en ;
               rdfs:label "eventTimeline"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/evidence
:evidence rdf:type owl:ObjectProperty ;
          rdfs:domain :PhenoClinicEffect ;
          rdfs:range :PhenoClinicEvidence ;
          rdfs:comment "Links the phenoclinic effect to the type of evidence supporting variant-disease association."@en ;
          rdfs:label "evidence"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/exclusionCriteria
:exclusionCriteria rdf:type owl:ObjectProperty ;
                   rdfs:domain :Cohort ;
                   rdfs:range :CohortCriteria ;
                   rdfs:comment "Exclusion criteria used for defining the cohort. It is assumed that NONE of the cohort participants will match such criteria. [Definition Source: Beacon v2 Data Model]"@en ;
                   rdfs:label "exclusionCriteria"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/featureModifier
:featureModifier rdf:type owl:ObjectProperty ;
                 rdfs:domain :PhenotypicFeature ;
                 rdfs:range :PhenotypicFeatureModifier ;
                 rdfs:comment "Links the phenotypic feature to specific characteristics."@en ;
                 rdfs:label "featureModifier"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/featureOnset
:featureOnset rdf:type owl:ObjectProperty ;
              rdfs:domain :PhenotypicFeature ;
              rdfs:range :TimeElement ;
              rdfs:comment "Age or time at which the feature was first observed. [Definition Source: Beacon v2 Data Model]"@en ;
              rdfs:label "featureOnset"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/featureResolution
:featureResolution rdf:type owl:ObjectProperty ;
                   rdfs:domain :PhenotypicFeature ;
                   rdfs:range :TimeElement ;
                   rdfs:comment "Age or time at which the feature resolved or abated. [Definition Source: Beacon v2 Data Model]"@en ;
                   rdfs:label "featureResolution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/featureType
:featureType rdf:type owl:ObjectProperty ;
             rdfs:domain :PhenotypicFeature ;
             rdfs:range :PhenotypicFeatureType ;
             rdfs:comment "Links a phenotypic feature to its type."@en ;
             rdfs:label "featureType"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/frequency
:frequency rdf:type owl:ObjectProperty ;
           rdfs:domain :FrequencyInPopulation ;
           rdfs:range :PopulationFrequency ;
           rdfs:comment "Links the Frequency In Population class to allele frequency information of each population."@en ;
           rdfs:label "frequency"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/frequencyInPopulation
:frequencyInPopulation rdf:type owl:ObjectProperty ;
                       rdfs:domain :GenomicVariation ;
                       rdfs:range :FrequencyInPopulation ;
                       rdfs:comment "Links the considered genomic variation to frequency information of different populations."@en ;
                       rdfs:label "frequencyInPopulation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/genomicFeature
:genomicFeature rdf:type owl:ObjectProperty ;
                rdfs:domain :MolecularAttribute ;
                rdfs:range :GenomicFeature ;
                rdfs:comment "Links a genomic variation to the genomic feature(s) affected by it."@en ;
                rdfs:label "genomicFeature"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/genomicFeatureClass
:genomicFeatureClass rdf:type owl:ObjectProperty ;
                     rdfs:domain :GenomicFeature ;
                     rdfs:range :GenomicFeatureClass ;
                     rdfs:comment "Links the genomic feature to the class of genomic feature affected by the variant."@en ;
                     rdfs:label "genomicFeatureClass"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/genotypeMember
:genotypeMember rdf:type owl:ObjectProperty ;
                rdfs:domain :Genotype ;
                rdfs:range :GenotypeMember ;
                rdfs:comment "Links the genotype varoation to the members describes a Molecular Variation and the count of that variation at the locus."@en ;
                rdfs:label "genotypeMember"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/genotypeVariation
:genotypeVariation rdf:type owl:ObjectProperty ;
                   rdfs:domain :GenotypeMember ;
                   rdfs:range :MolecularVariation ;
                   rdfs:comment "Links a genotype locus to the molecular variation."@en ;
                   rdfs:label "genotypeVariation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/haplotypeMember
:haplotypeMember rdf:type owl:ObjectProperty ;
                 rdfs:domain :Haplotype ;
                 rdfs:range :Allele ;
                 rdfs:comment "Links the haplotype to the co-occurring allele."@en ;
                 rdfs:label "haplotypeMember"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/histologicalDiagnosis
:histologicalDiagnosis rdf:type owl:ObjectProperty ;
                       rdfs:domain :Biosample ;
                       rdfs:comment "Links the biosample to the disease diagnosis that was inferred from the histological examination. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                       rdfs:label "histologicalDiagnosis"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/inCohort
:inCohort rdf:type owl:ObjectProperty ;
          rdfs:domain bto:Patient ;
          rdfs:range :Cohort ;
          rdfs:comment "Links a patient to the belonging cohort."@en ;
          rdfs:label "inCohort"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/inVcfFile
:inVcfFile rdf:type owl:ObjectProperty ;
           rdfs:domain :VCFRecord ;
           rdfs:range :VCFFile ;
           rdfs:comment "Links the VCF record to the corresponding VCF file."@en ;
           rdfs:label "inVcfFile"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/inclusionCriteria
:inclusionCriteria rdf:type owl:ObjectProperty ;
                   rdfs:domain :Cohort ;
                   rdfs:range :CohortCriteria ;
                   rdfs:comment "Inclusion criteria used for defining the cohort. It is assumed that all cohort participants will match such criteria. [Definition Source: Beacon v2 Data Model]"@en ;
                   rdfs:label "inclusionCriteria"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/individual
:individual rdf:type owl:ObjectProperty ;
            rdfs:domain [ rdf:type owl:Class ;
                          owl:unionOf ( :Analysis
                                        :Biosample
                                        :CaseLevelVariant
                                        :Run
                                      )
                        ] ;
            rdfs:range <http://www.w3.org/2000/10/swap/pim/contact#Person> ;
            rdfs:comment "Links the case level variant to the considered individual."@en ;
            rdfs:label "individual"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/librarySource
:librarySource rdf:type owl:ObjectProperty ;
               rdfs:domain :Run ;
               rdfs:range :LibrarySource ;
               rdfs:comment "Links an experimental run to the the source of the sequencing or hybridization library."@en ;
               rdfs:label "librarySource"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/location
:location rdf:type owl:ObjectProperty ;
          rdfs:domain [ rdf:type owl:Class ;
                        owl:unionOf ( :Allele
                                      :CopyNumberChange
                                      :CopyNumberCount
                                      :LegacyVariation
                                    )
                      ] ;
          rdfs:range :Location ;
          <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1706949> ;
          rdfs:comment "Links a class to the genomic location."@en ;
          rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_R30> ;
          rdfs:label "location"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/measurement
:measurement rdf:type owl:ObjectProperty ;
             rdfs:domain :Biosample ;
             rdfs:range :Measurement ;
             rdfs:comment "Links a biosample to the measurement."@en ;
             rdfs:label "measurement"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/measurementMoment
:measurementMoment rdf:type owl:ObjectProperty ;
                   rdfs:domain :Measurement ;
                   rdfs:range :TimeElement ;
                   rdfs:comment "Moment in time at which measurement was performed. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                   rdfs:label "measurementMoment"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/measurementUOM
:measurementUOM rdf:type owl:ObjectProperty ;
                rdfs:domain :Measurement ;
                rdfs:range :UnitOfMeasure ;
                rdfs:comment "Links a measurement to the employed Unit Of Measure."@en ;
                rdfs:label "measurementUOM"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/molecularAttributes
:molecularAttributes rdf:type owl:ObjectProperty ;
                     rdfs:domain :GenomicVariation ;
                     rdfs:range :MolecularAttribute ;
                     rdfs:comment "Links the considered genomic variation to its molecular attributes."@en ;
                     rdfs:label "molecularAttribute"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/molecularEffect
:molecularEffect rdf:type owl:ObjectProperty ;
                 rdfs:domain :MolecularAttribute ;
                 rdfs:range :MolecularEffect ;
                 rdfs:comment "Links a molecular attribute to its molecular effect."@en ;
                 rdfs:label "molecularEffect"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/molecularVariationType
:molecularVariationType rdf:type owl:ObjectProperty ,
                                 owl:FunctionalProperty ;
                        rdfs:domain :MolecularVariation ;
                        rdfs:range [ rdf:type owl:Class ;
                                     owl:unionOf ( :Allele
                                                   :Haplotype
                                                 )
                                   ] ;
                        rdfs:comment "Links a molecular variation to the variation type."@en ;
                        rdfs:label "molecularVariationType"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/obtentionProcedure
:obtentionProcedure rdf:type owl:ObjectProperty ;
                    rdfs:domain [ rdf:type owl:Class ;
                                  owl:unionOf ( :Biosample
                                                :Measurement
                                              )
                                ] ;
                    rdfs:range :ObtentionProcedure ;
                    rdfs:comment "The procedure for sample or measurement obtention."@en ;
                    rdfs:label "obtentionProcedure"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/pathologicalStage
:pathologicalStage rdf:type owl:ObjectProperty ;
                   rdfs:domain :Biosample ;
                   rdfs:range :PathologicalStage ;
                   rdfs:comment "Links the biosample to the detected pathological stage."@en ;
                   rdfs:label "pathologicalStage"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/pathologicalTNMFinding
:pathologicalTNMFinding rdf:type owl:ObjectProperty ;
                        rdfs:domain :Biosample ;
                        rdfs:range :PathologicalTNMFinding ;
                        rdfs:comment "Links the biosample to the detected pathological TNM finding."@en ;
                        rdfs:label "pathologicalTNMFinding"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/phenotypicConditions
:phenotypicConditions rdf:type owl:ObjectProperty ;
                      rdfs:domain :CohortCriteria ;
                      rdfs:range :PhenotypicFeature ;
                      rdfs:comment "Links the cohort criteria to the phenotypic condition(s) in cohort inculsion criteria."@en ;
                      rdfs:label "phenotypicCondition"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/phenotypicEffect
:phenotypicEffect rdf:type owl:ObjectProperty ;
                  rdfs:domain [ rdf:type owl:Class ;
                                owl:unionOf ( :CaseLevelVariant
                                              :VariantLevelData
                                            )
                              ] ;
                  rdfs:range :PhenoClinicEffect ;
                  rdfs:comment "Links the variant level data and case level variant to its phenoclinic effects."@en ;
                  rdfs:label "phenotypicEffect"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/phenotypicFeature
:phenotypicFeature rdf:type owl:ObjectProperty ;
                   rdfs:domain :Biosample ;
                   rdfs:range :PhenotypicFeature ;
                   rdfs:comment "Link the biosample to the phenotypic abnormalities of the sample."@en ;
                   rdfs:label "phenotypicFeature"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/platformModel
:platformModel rdf:type owl:ObjectProperty ;
               rdfs:domain :Run ;
               rdfs:range :PlatformModel ;
               rdfs:comment "Links the experimental run to the experimental platform or methodology used."@en ;
               rdfs:label "platformModel"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/refersToCohort
:refersToCohort rdf:type owl:ObjectProperty ;
                rdfs:domain :VCFFile ;
                rdfs:range :Cohort ;
                rdfs:comment "Links the VCF file tot the corresponding cohort"@en ;
                rdfs:label "refersToCohort"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/run
:run rdf:type owl:ObjectProperty ;
     rdfs:domain [ rdf:type owl:Class ;
                   owl:unionOf ( :Analysis
                                 :CaseLevelVariant
                               )
                 ] ;
     rdfs:range :Run ;
     rdfs:comment "Links the case level variant to the experimental run."@en ;
     rdfs:label "run"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sampleOriginDetail
:sampleOriginDetail rdf:type owl:ObjectProperty ;
                    rdfs:domain :Biosample ;
                    rdfs:range :SampleOriginDetail ;
                    rdfs:comment "Links the biosample to the sample origin detail."@en ;
                    rdfs:label "sampleOriginDetail"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sampleOriginType
:sampleOriginType rdf:type owl:ObjectProperty ;
                  rdfs:domain :Biosample ;
                  rdfs:range :SampleOriginType ;
                  rdfs:comment "Links the biosample to the sample origin type."@en ;
                  rdfs:label "sampleOriginType"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sampleProcessing
:sampleProcessing rdf:type owl:ObjectProperty ;
                  rdfs:domain :Biosample ;
                  rdfs:range :SampleProcessing ;
                  rdfs:comment "Links the biosample to how the specimen was processed."@en ;
                  rdfs:label "sampleProcessing"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sequenceComponent
:sequenceComponent rdf:type owl:ObjectProperty ;
                   rdfs:domain :ComposedSequenceExpression ;
                   rdfs:range [ rdf:type owl:Class ;
                                owl:unionOf ( :DerivedSequenceExpression
                                              :LiteralSequenceExpression
                                              :RepeatedSequenceExpression
                                            )
                              ] ;
                   rdfs:comment "Sequence Expression components comprising the expression."@en ;
                   rdfs:label "sequenceComponent"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sequenceExpression
:sequenceExpression rdf:type owl:ObjectProperty ;
                    rdfs:domain :RepeatedSequenceExpression ;
                    rdfs:range [ rdf:type owl:Class ;
                                 owl:unionOf ( :DerivedSequenceExpression
                                               :LiteralSequenceExpression
                                             )
                               ] ;
                    rdfs:comment "Links the repeated sequence expression to the expression of the repeating subsequence."@en ;
                    rdfs:label "sequenceExpression"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sequenceInterval
:sequenceInterval rdf:type owl:ObjectProperty ;
                  rdfs:domain :SequenceLocation ;
                  rdfs:range :SequenceInterval ;
                  rdfs:comment "Links the sequence location to the sequence interval."@en ;
                  rdfs:label "sequenceInterval"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sequenceLocation
:sequenceLocation rdf:type owl:ObjectProperty ;
                  rdfs:domain :DerivedSequenceExpression ;
                  rdfs:range :SequenceLocation ;
                  rdfs:comment "Links a sequence expression to the sequence location."@en ;
                  rdfs:label "sequenceLocation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sequenceState
:sequenceState rdf:type owl:ObjectProperty ;
               rdfs:domain :Allele ;
               rdfs:range :SequenceExpression ;
               rdfs:comment "Links the allele to an expression of the sequence state."@en ;
               rdfs:label "sequenceState"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/severity
:severity rdf:type owl:ObjectProperty ;
          rdfs:domain [ rdf:type owl:Class ;
                        owl:unionOf ( :CohortDisease
                                      :PhenotypicFeature
                                    )
                      ] ;
          rdfs:range :Severity ;
          rdfs:comment "Links a disease or phenotypic feature to its severity."@en ;
          rdfs:label "severity"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/systemicVariationType
:systemicVariationType rdf:type owl:ObjectProperty ,
                                owl:FunctionalProperty ;
                       rdfs:domain :SystemicVariation ;
                       rdfs:range [ rdf:type owl:Class ;
                                    owl:unionOf ( :CopyNumberChange
                                                  :CopyNumberCount
                                                  :Genotype
                                                )
                                  ] ;
                       rdfs:comment "Links a systemic variation to the variation type."@en ;
                       rdfs:label "systemicVariationType"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/timeIntervalEnd
:timeIntervalEnd rdf:type owl:ObjectProperty ;
                 rdfs:domain :TimeInterval ;
                 rdfs:range :Timestamp ;
                 rdfs:comment "The timestamp in which a time interval has ended."@en ;
                 rdfs:label "timeIntervalEnd"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/timeIntervalStart
:timeIntervalStart rdf:type owl:ObjectProperty ;
                   rdfs:domain :TimeInterval ;
                   rdfs:range :Timestamp ;
                   rdfs:comment "The timestamp in which a time interval has started."@en ;
                   rdfs:label "timeIntervalStart"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/tumorGrade
:tumorGrade rdf:type owl:ObjectProperty ;
            rdfs:domain :Biosample ;
            rdfs:range :TumorGrade ;
            rdfs:comment "Links the biosample to the detected tumor grade."@en ;
            rdfs:label "tumorGrade"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/tumorProgression
:tumorProgression rdf:type owl:ObjectProperty ;
                  rdfs:domain :Biosample ;
                  rdfs:range :TumorProgression ;
                  rdfs:comment "Links the biosample to the observed tumor progression."@en ;
                  rdfs:label "tumorProgression"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variantAlternativeID
:variantAlternativeID rdf:type owl:ObjectProperty ;
                      rdfs:domain :GenomicVariation ;
                      rdfs:range :VariantAlternativeID ;
                      rdfs:comment "Links a genomic variation to the variant alternative ID."@en ;
                      rdfs:label "variantAlternativeID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variantLevelData
:variantLevelData rdf:type owl:ObjectProperty ;
                  rdfs:domain :GenomicVariation ;
                  rdfs:range :VariantLevelData ;
                  rdfs:comment "Links the considered genomic variation to its variant level data."@en ;
                  rdfs:label "variantLevelData"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variantQuality
:variantQuality rdf:type owl:ObjectProperty ;
                rdfs:domain :GenomicVariation ;
                rdfs:range :VariantQuality ;
                rdfs:comment "Links the considered genomic variation to the quality score of the variation."@en ;
                rdfs:label "variantQuality"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variationCopyChange
:variationCopyChange rdf:type owl:ObjectProperty ;
                     rdfs:domain :CopyNumberChange ;
                     rdfs:range :CopyNumberAssessment ;
                     rdfs:comment "Links the Copy Number Change to the type of variation change."@en ;
                     rdfs:label "variationCopyChange"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/vcfRecord
:vcfRecord rdf:type owl:ObjectProperty ;
           rdfs:domain :GenomicVariation ;
           rdfs:range :VCFRecord ;
           rdfs:comment "Links the considered genomic variation to the VCF record mentioning it."@en ;
           rdfs:label "vcfRecord"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/zygosity
:zygosity rdf:type owl:ObjectProperty ;
          rdfs:domain :CaseLevelVariant ;
          rdfs:range :Zygosity ;
          rdfs:comment "Links the case level variant to the observed zigosity."@en ;
          rdfs:label "zygosity"@en .


#################################################################
#    Data properties
#################################################################

###  https://w3id.org/hereditary/ontology/genomics/schema/alleleFrequency
:alleleFrequency rdf:type owl:DatatypeProperty ;
                 rdfs:domain :PopulationFrequency ;
                 rdfs:range xsd:float ;
                 <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0017270> ;
                 rdfs:comment "Allele frequency between 0 and 1. Example: 0.00003186. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                 rdfs:label "alleleFrequency"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/alternateBases
:alternateBases rdf:type owl:DatatypeProperty ;
                rdfs:domain :LegacyVariation ;
                rdfs:range rdf:PlainLiteral ;
                rdfs:comment "Alternate bases for this variant (starting from `start`). * Accepted values: IUPAC codes for nucleotides (e.g. `https://www.bioinformatics.org/sms/iupac.html`). * N is a wildcard, that denotes the position of any base, and can be used as\\n  a standalone base of any type or within a partially known sequence.\\n* an *empty value* is used in the case of deletions with the maximally\\n  trimmed, deleted sequence being indicated in `ReferenceBases`. Pattern: \"^([ACGTUNRYSWKMBDHV\\\\-\\\\.]*)$\" [Definition Source: GA4Gh Beacon v2 Data Model]"@en ;
                rdfs:label "alternateBases"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/alternativeIDReference
:alternativeIDReference rdf:type owl:DatatypeProperty ;
                        rdfs:domain :VariantAlternativeID ;
                        rdfs:range rdf:PlainLiteral ;
                        rdfs:comment "External reference of the variant alternative ID."@en ;
                        rdfs:label "alternativeIDReference"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/aminoacidChange
:aminoacidChange rdf:type owl:DatatypeProperty ;
                 rdfs:domain :MolecularAttribute ;
                 rdfs:range rdf:PlainLiteral ;
                 <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1953353> ;
                 rdfs:comment "Change at aminoacid level for protein affecting variants. Example: \"V304*\". [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                 rdfs:label "aminoacidChange"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/analysisAligner
:analysisAligner rdf:type owl:DatatypeProperty ;
                 rdfs:domain :Analysis ;
                 rdfs:range rdf:PlainLiteral ;
                 rdfs:comment "Reference to mapping/alignment software. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                 rdfs:label "analysisAligner"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/analysisDate
:analysisDate rdf:type owl:DatatypeProperty ;
              rdfs:domain :Analysis ;
              rdfs:range xsd:dateTime ;
              rdfs:comment "Date at which analysis was performed. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
              rdfs:label "analysisDate"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/analysisPipelineName
:analysisPipelineName rdf:type owl:DatatypeProperty ;
                      rdfs:domain :Analysis ;
                      rdfs:range rdf:PlainLiteral ;
                      rdfs:comment "Analysis pipeline and version if a standardized pipeline was used. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                      rdfs:label "analysisPipelineName"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/analysisPipelineRef
:analysisPipelineRef rdf:type owl:DatatypeProperty ;
                     rdfs:domain :Analysis ;
                     rdfs:range rdf:PlainLiteral ;
                     rdfs:comment "Link to Analysis pipeline resource. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                     rdfs:label "analysisPipelineRef"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/availability
:availability rdf:type owl:DatatypeProperty ;
              rdfs:domain :DataAvailabilityAndDistribution ;
              rdfs:range xsd:boolean ;
              rdfs:comment "Data availability. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
              rdfs:label "availability"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/availabilityCount
:availabilityCount rdf:type owl:DatatypeProperty ;
                   rdfs:domain :DataAvailabilityAndDistribution ;
                   rdfs:range xsd:integer ;
                   rdfs:comment "Count of individuals with data available. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                   rdfs:label "availabilityCount"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/biosampleCollectionDate
:biosampleCollectionDate rdf:type owl:DatatypeProperty ;
                         rdfs:domain :Biosample ;
                         rdfs:range xsd:dateTime ;
                         rdfs:comment "Date of biosample collection in ISO8601 format. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                         rdfs:label "biosampleCollectionDate"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/biosampleCollectionMoment
:biosampleCollectionMoment rdf:type owl:DatatypeProperty ;
                           rdfs:domain :Biosample ;
                           rdfs:range rdf:PlainLiteral ;
                           rdfs:comment "Individual's or cell cullture age at the time of sample collection in the ISO8601 duration format `P[n]Y[n]M[n]DT[n]H[n]M[n]S`. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                           rdfs:label "biosampleCollectionMoment"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/clinicalRelevance
:clinicalRelevance rdf:type owl:DatatypeProperty ;
                   rdfs:domain :PhenoClinicEffect ;
                   rdfs:range [ rdf:type rdfs:Datatype ;
                                owl:oneOf [ rdf:type rdf:List ;
                                            rdf:first "Benign"@en ;
                                            rdf:rest [ rdf:type rdf:List ;
                                                       rdf:first "Likely Benign"@en ;
                                                       rdf:rest [ rdf:type rdf:List ;
                                                                  rdf:first "Likely Pathogenic"@en ;
                                                                  rdf:rest [ rdf:type rdf:List ;
                                                                             rdf:first "Pathogenic"@en ;
                                                                             rdf:rest [ rdf:type rdf:List ;
                                                                                        rdf:first "Uncertain Significance"@en ;
                                                                                        rdf:rest rdf:nil
                                                                                      ]
                                                                           ]
                                                                ]
                                                     ]
                                          ]
                              ] ;
                   <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C5239127> ;
                   rdfs:comment "Indication of the clinical relevance of the variant Recommended: A value from the five-tiered classification from the American College of Medical Genetics (ACMG) designed to describe the likelihood that a genomic sequence variant is causative of an inherited disease. (ACMG Classification of Genomic Variant Pathogenicity: NCIT:C168798). [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                   rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C168798> ;
                   rdfs:label "clinicalRelevance"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/clinvarVariantID
:clinvarVariantID rdf:type owl:DatatypeProperty ;
                  rdfs:domain :GenomicVariation ;
                  rdfs:range rdf:PlainLiteral ;
                  rdfs:comment "ClinVar variant id. Other id values used by ClinVar can be added to `variantAlternativeIds`. pattern: \"^(clinvar:)?\\\\d+$\". [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:label "clinvarVariantID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortName
:cohortName rdf:type owl:DatatypeProperty ;
            rdfs:domain :Cohort ;
            rdfs:range rdf:PlainLiteral ;
            rdfs:comment "Name of the cohort. For `user-defined` this field could be generated upon the query, e.g. a value that is a concatenationor some representation of the user query. [Definition Source: Beacon v2 Data Model]"@en ;
            rdfs:label "cohortName"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortSize
:cohortSize rdf:type owl:DatatypeProperty ;
            rdfs:domain :Cohort ;
            rdfs:range xsd:integer ;
            rdfs:comment "Count of unique Individuals in cohort (individuals meeting criteria for `user-defined` cohorts). If not previously known, it could be calculated by counting the individuals in the cohort. [Definition Source: Beacon v2 Data Model]"@en ;
            rdfs:label "cohortSize"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortType
:cohortType rdf:type owl:DatatypeProperty ;
            rdfs:domain :Cohort ;
            rdfs:range rdf:PlainLiteral ;
            rdfs:comment "Cohort type by its definition. If a cohort is declared `study-defined` or `beacon-defined` criteria are to be entered `in cohort_inclusion_criteria`; if a cohort is declared `user-defined` `cohort_inclusion_criteria` could be automatically populated from the parameters used to perform the query. [DEfinition Source: Beacon v2 Data Model]"@en ;
            rdfs:label "cohortType"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cytobandEnd
:cytobandEnd rdf:type owl:DatatypeProperty ;
             rdfs:domain :CytobandInterval ;
             rdfs:range rdf:PlainLiteral ;
             <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C5236541> ;
             rdfs:comment "The end cytoband region. MUST specify a region nearer the terminal end (telomere) of the chromosome q-arm than start. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
             rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C164745> ;
             rdfs:label "cytobandEnd"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cytobandStart
:cytobandStart rdf:type owl:DatatypeProperty ;
               rdfs:domain :CytobandInterval ;
               rdfs:range rdf:PlainLiteral ;
               <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C5236543> ;
               rdfs:comment "The start cytoband region. MUST specify a region nearer the terminal end (telomere) of the chromosome p-arm than end. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
               rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C164747> ;
               rdfs:label "cytobandStart"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/earliestEvent
:earliestEvent rdf:type owl:DatatypeProperty ;
               rdfs:domain :EventTimeline ;
               rdfs:range xsd:dateTime ;
               rdfs:comment "Earliest date of visit or collection timeline. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "earliestEvent"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/elementDistribution
:elementDistribution rdf:type owl:DatatypeProperty ;
                     rdfs:domain :ElementDistribution ;
                     rdfs:range xsd:integer ;
                     rdfs:comment "Results or counts for each category."@en ;
                     rdfs:label "elementDistribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/eventCases
:eventCases rdf:type owl:DatatypeProperty ;
            rdfs:domain :CollectionEvent ;
            rdfs:range xsd:integer ;
            rdfs:comment "Number of cases. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
            rdfs:label "eventCases"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/eventControls
:eventControls rdf:type owl:DatatypeProperty ;
               rdfs:domain :CollectionEvent ;
               rdfs:range xsd:integer ;
               rdfs:comment "Number of controls. [Definition SOurce: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "eventControls"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/eventDate
:eventDate rdf:type owl:DatatypeProperty ;
           rdfs:domain :CollectionEvent ;
           rdfs:range xsd:dateTime ;
           rdfs:comment "Date of collection event/data point. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
           rdfs:label "eventDate"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/eventSize
:eventSize rdf:type owl:DatatypeProperty ;
           rdfs:domain :CollectionEvent ;
           rdfs:range xsd:integer ;
           rdfs:comment "Count of individuals in cohort at data point (for \"user-defined\" cohorts, this is individuals meeting criteria) obtained from individual level info in database. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
           rdfs:label "eventSize"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/familyHistory
:familyHistory rdf:type owl:DatatypeProperty ;
               rdfs:domain :CohortDisease ;
               rdfs:range xsd:boolean ;
               rdfs:comment "Boolean indicating determined or self-reported presence of family history of the disease. [Definition Source: Beacon v2 Data Model]"@en ;
               rdfs:label "familyHistory"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/featureExcluded
:featureExcluded rdf:type owl:DatatypeProperty ;
                 rdfs:domain :PhenotypicFeature ;
                 rdfs:range xsd:boolean ;
                 rdfs:comment "Flag to indicate whether the phenotypic feature was observed or not. Default is \"FALSE\", in other words the phenotype was observed. Therefore it is only used in cases where the phenotype was looked for but found to be absent. More formally, this modifier indicates the logical negation of the OntologyClass used in the `featureType` field. CAUTION: It is imperative to check this field for correct interpretation of the phenotype! Source: Phenopackets v2 [Definition Source: Beacon v2 Data Model]"@en ;
                 rdfs:label "featureExcluded"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/filename
:filename rdf:type owl:DatatypeProperty ;
          rdfs:domain :VCFFile ;
          rdfs:range rdf:PlainLiteral ;
          rdfs:comment "The name of the file."@en ;
          rdfs:label "filename"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/filepath
:filepath rdf:type owl:DatatypeProperty ;
          rdfs:domain :VCFFile ;
          rdfs:range rdf:PlainLiteral ;
          rdfs:comment "The path to the file."@en ;
          rdfs:label "filepath"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/geneID
:geneID rdf:type owl:DatatypeProperty ;
        rdfs:domain :MolecularAttribute ;
        rdfs:range rdf:PlainLiteral ;
        rdfs:comment "Symbolic name or identifier used for a gene. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
        rdfs:label "geneID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/genomeAssembly
:genomeAssembly rdf:type owl:DatatypeProperty ;
                rdfs:domain :VCFRecord ;
                rdfs:range rdf:PlainLiteral ;
                rdfs:comment "Identifier for the genome assembly used to call the allele. [Definition Source: Phenopacket v2 Data Model]"@en ;
                rdfs:label "genomeAssembly"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/genomicHGVSID
:genomicHGVSID rdf:type owl:DatatypeProperty ;
               rdfs:domain :GenomicVariation ;
               rdfs:range rdf:PlainLiteral ;
               rdfs:comment "The Human Genome Variation Society (HGVS) ID descriptor. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "genomicHGVSID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/genotypeCount
:genotypeCount rdf:type owl:DatatypeProperty ;
               rdfs:domain :GenotypeMember ;
               rdfs:range xsd:integer ;
               rdfs:comment "The number of copies of the variation at a Genotype locus. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
               rdfs:label "genotypeCount"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/gestationalDays
:gestationalDays rdf:type owl:DatatypeProperty ;
                 rdfs:domain :GestationalAge ;
                 rdfs:range xsd:integer ;
                 rdfs:comment "Days beyond the completed weeks, if available. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                 rdfs:label "gestationalDays"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/gestationalWeeks
:gestationalWeeks rdf:type owl:DatatypeProperty ;
                  rdfs:domain :GestationalAge ;
                  rdfs:range xsd:integer ;
                  <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C5203192> ;
                  rdfs:comment "Completed weeks of gestation. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:label "gestationalWeeks"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/iso8601duration
:iso8601duration rdf:type owl:DatatypeProperty ;
                 rdfs:domain :Age ;
                 rdfs:range rdf:PlainLiteral ;
                 rdfs:comment "Represents age as a ISO8601 duration (e.g., 'P40Y10M05D'). [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                 rdfs:label "iso8601duration"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/latestEvent
:latestEvent rdf:type owl:DatatypeProperty ;
             rdfs:domain :EventTimeline ;
             rdfs:range xsd:dateTime ;
             rdfs:comment "Latest date of visit or collection timeline. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
             rdfs:label "latestEvent"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/libraryLayout
:libraryLayout rdf:type owl:DatatypeProperty ;
               rdfs:domain :Run ;
               rdfs:range [ rdf:type rdfs:Datatype ;
                            owl:oneOf [ rdf:type rdf:List ;
                                        rdf:first "PAIRED"@en ;
                                        rdf:rest [ rdf:type rdf:List ;
                                                   rdf:first "SINGLE"@en ;
                                                   rdf:rest rdf:nil
                                                 ]
                                      ]
                          ] ;
               rdfs:comment "Ontology value for the library layout e.g \"PAIRED\", \"SINGLE\" [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "libraryLayout"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/librarySelection
:librarySelection rdf:type owl:DatatypeProperty ;
                  rdfs:domain :Run ;
                  rdfs:range rdf:PlainLiteral ;
                  rdfs:comment "Selection method for library preparation, e.g \"RANDOM\", \"RT-PCR\". [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:label "librarySelection"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/libraryStrategy
:libraryStrategy rdf:type owl:DatatypeProperty ;
                 rdfs:domain :Run ;
                 rdfs:range rdf:PlainLiteral ;
                 rdfs:comment "Library strategy, e.g. \"WGS\". [Definition SOurce: GA4GH Beacon v2 Data Model]"@en ;
                 rdfs:label "libraryStrategy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/locationChr
:locationChr rdf:type owl:DatatypeProperty ;
             rdfs:domain :ChromosomeLocation ;
             rdfs:range rdf:PlainLiteral ;
             rdfs:comment "The symbolic chromosome name. For humans, chromosome names MUST be one of 1..22, X, Y (case-sensitive) [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
             rdfs:label "locationChr"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/measurementDate
:measurementDate rdf:type owl:DatatypeProperty ;
                 rdfs:domain :Measurement ;
                 rdfs:range xsd:dateTime ;
                 rdfs:comment "Date of measurement. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                 rdfs:label "measurementDate"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/measurementRefRangeHigh
:measurementRefRangeHigh rdf:type owl:DatatypeProperty ;
                         rdfs:domain :Measurement ;
                         rdfs:range xsd:float ;
                         rdfs:comment "The reference range to determine the measurement to be high."@en ;
                         rdfs:label "measurementRefRangeHigh"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/measurementRefRangeLow
:measurementRefRangeLow rdf:type owl:DatatypeProperty ;
                        rdfs:domain :Measurement ;
                        rdfs:range xsd:float ;
                        rdfs:comment "The reference range to determine the measurement to be low."@en ;
                        rdfs:label "measurementRefRangeLow"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/measurementValue
:measurementValue rdf:type owl:DatatypeProperty ;
                  rdfs:domain :Measurement ;
                  rdfs:range xsd:float ;
                  rdfs:comment "The value of the measurement in the units,"@en ;
                  rdfs:label "measurementValue"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/molecularVariationCount
:molecularVariationCount rdf:type owl:DatatypeProperty ;
                         rdfs:domain :Genotype ;
                         rdfs:range xsd:integer ;
                         rdfs:comment "The total number of copies of all Molecular Variation at this locus, MUST be greater than or equal to the sum of GenotypeMember copy counts and MUST be greater than or equal to 1. If greater than the total of GenotypeMember counts, this field describes additional Molecular Variation that exist but are not explicitly described. [Definition Source: Ga4GH Variation Representation Specification (VRS) v1.2]"@en ;
                         rdfs:label "molecularVariationCount"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/notes
:notes rdf:type owl:DatatypeProperty ;
       rdfs:domain [ rdf:type owl:Class ;
                     owl:unionOf ( :CohortDisease
                                   :Measurement
                                   :PhenotypicFeature
                                   :VariantAlternativeID
                                 )
                   ] ;
       rdfs:range rdf:PlainLiteral ;
       rdfs:comment "Unstructured text to provide additional information."@en ;
       rdfs:label "notes"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/population
:population rdf:type owl:DatatypeProperty ;
            rdfs:domain :PopulationFrequency ;
            rdfs:range rdf:PlainLiteral ;
            rdfs:comment "A name for the population. A population could an ethnic, geographical one or just the members of a study. Examples: \"East Asian\", \"Men\", \"ICGC Chronic Lymphocytic Leukemia-ES\". [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
            rdfs:label "population"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/proteinHGVSID
:proteinHGVSID rdf:type owl:DatatypeProperty ;
               rdfs:domain :GenomicVariation ;
               rdfs:range rdf:PlainLiteral ;
               rdfs:comment "The Human Genome Variation Society (HGVS) ID descriptor(s) at protein level (for protein-altering variants). [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "proteinHGVSID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/referenceBases
:referenceBases rdf:type owl:DatatypeProperty ;
                rdfs:domain :LegacyVariation ;
                rdfs:range rdf:PlainLiteral ;
                rdfs:comment "Reference bases for this variant (starting from `start`). * Accepted values: IUPAC codes for nucleotides (e.g. `https://www.bioinformatics.org/sms/iupac.html`). * N is a wildcard, that denotes the position of any base, and can be used\\n  as a standalone base of any type or within a partially known sequence.\\n* an *empty value* is used in the case of insertions with the maximally\\n  trimmed, inserted sequence being indicated in `AlternateBases`. Pattern: \"^([ACGTUNRYSWKMBDHV\\\\-\\\\.]*)$\"  [Definition Source: Ga4GH Beacon v2 Data Model]"@en ;
                rdfs:label "referenceBases"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/referenceSequence
:referenceSequence rdf:type owl:DatatypeProperty ;
                   rdfs:domain :SequenceLocation ;
                   rdfs:range rdf:PlainLiteral ;
                   rdfs:comment "A VRS Computed Identifier for the reference Sequence. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                   rdfs:label "referenceSequence"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/repeatedSequenceCount
:repeatedSequenceCount rdf:type owl:DatatypeProperty ;
                       rdfs:domain :RepeatedSequenceExpression ;
                       rdfs:range xsd:integer ;
                       rdfs:comment "The count of repeated units, as an integer or inclusive range. [Defintion Source: GA4GH VAriation Representation Specification (VRS) v1.2]"@en ;
                       rdfs:label "repeatedSequenceCount"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/reverseComplement
:reverseComplement rdf:type owl:DatatypeProperty ;
                   rdfs:domain :DerivedSequenceExpression ;
                   rdfs:range xsd:boolean ;
                   rdfs:comment "A flag indicating if the expressed sequence is the reverse complement of the sequence referred to by location. [definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                   rdfs:label "reverseComplement"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/runDate
:runDate rdf:type owl:DatatypeProperty ;
         rdfs:domain :Run ;
         rdfs:range xsd:dateTime ;
         rdfs:comment "Date at which the experiment was performed. [Definition Source: Ga4GH Beacon v2 Data Model]"@en ;
         rdfs:label "runDate"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/runPlatform
:runPlatform rdf:type owl:DatatypeProperty ;
             rdfs:domain :Run ;
             rdfs:range rdf:PlainLiteral ;
             rdfs:comment "General platform technology label. It SHOULD be a subset of the platformModel and used only for query convenience, e.g. \"return everything sequenced with Illimuna\", where the specific model is not relevant. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
             rdfs:label "runPlatform"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sampleStorage
:sampleStorage rdf:type owl:DatatypeProperty ;
               rdfs:domain :Biosample ;
               rdfs:range rdf:PlainLiteral ;
               rdfs:comment "Status of how the specimen was stored. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "sampleStorage"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sequence
:sequence rdf:type owl:DatatypeProperty ;
          rdfs:domain :LiteralSequenceExpression ;
          rdfs:range rdf:PlainLiteral ;
          rdfs:comment "A character string representation of a contiguous, linear polymer of nucleic acid or amino acid Residues. Sequences are the prevalent representation of these polymers, particularly in the domain of variant representation. [Definition Source: Ga4GH Variation Representation Specification (VRS) v1.2]"@en ;
          rdfs:label "sequence"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sequenceIntervalEnd
:sequenceIntervalEnd rdf:type owl:DatatypeProperty ;
                     rdfs:domain :SequenceInterval ;
                     rdfs:range rdf:PlainLiteral ;
                     rdfs:comment "The end coordinate or range of the interval. The minimum value of this coordinate or range is 0. MUST represent a coordinate or range greater than the value of start. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                     rdfs:label "sequenceIntervalEnd"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sequenceIntervalStart
:sequenceIntervalStart rdf:type owl:DatatypeProperty ;
                       rdfs:domain :SequenceInterval ;
                       rdfs:range rdf:PlainLiteral ;
                       <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C4525827> ;
                       rdfs:comment "The start coordinate or range of the interval. The minimum value of this coordinate or range is 0. MUST represent a coordinate or range less than the value of end. [Definition Source: Ga4GH variation Representation Specification (VRS) v1.2]"@en ;
                       rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C135488> ;
                       rdfs:label "sequenceIntervalStart"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/source
:source rdf:type owl:DatatypeProperty ;
        rdfs:domain :FrequencyInPopulation ;
        rdfs:range rdf:PlainLiteral ;
        rdfs:comment "The study reporting the frequency information. Examples: \"The Genome Aggregation Database (gnomAD)\", \"The European Genome-phenome Archive (EGA)\". [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
        rdfs:label "source"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sourceReference
:sourceReference rdf:type owl:DatatypeProperty ;
                 rdfs:domain :FrequencyInPopulation ;
                 rdfs:range rdf:PlainLiteral ;
                 rdfs:comment "A reference to further documentation or details. Examples: \"https://gnomad.broadinstitute.org/\", \"https://ega-archive.org/\". [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                 rdfs:label "sourceReference"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sourceVersion
:sourceVersion rdf:type owl:DatatypeProperty ;
               rdfs:domain :FrequencyInPopulation ;
               rdfs:range rdf:PlainLiteral ;
               rdfs:comment "Version of the source data. Example: \"gnomAD v3.1.1\". [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "sourceVersion"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/timestamp
:timestamp rdf:type owl:DatatypeProperty ;
           rdfs:domain :Timestamp ;
           rdfs:range xsd:dateTimeStamp ;
           rdfs:comment "The datetime of the timestamp."@en ;
           rdfs:label "timestamp"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/toolName
:toolName rdf:type owl:DatatypeProperty ;
          rdfs:domain :SoftwareTool ;
          rdfs:range rdf:PlainLiteral ;
          rdfs:comment "Name of the software tool. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
          rdfs:label "toolName"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/toolReference
:toolReference rdf:type owl:DatatypeProperty ;
               rdfs:domain :SoftwareTool ;
               rdfs:range rdf:PlainLiteral ;
               rdfs:comment "References to the software tool. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "toolReference"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/toolVersion
:toolVersion rdf:type owl:DatatypeProperty ;
             rdfs:domain :SoftwareTool ;
             rdfs:range rdf:PlainLiteral ;
             rdfs:comment "Software Tool version used. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
             rdfs:label "toolVersion"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/transcriptHGVSID
:transcriptHGVSID rdf:type owl:DatatypeProperty ;
                  rdfs:domain :GenomicVariation ;
                  rdfs:range rdf:PlainLiteral ;
                  rdfs:comment "The Human Genome Variation Society (HGVS) ID descriptor(s) at transcript level."@en ;
                  rdfs:label "transcriptHGVSID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/valueID
:valueID rdf:type owl:DatatypeProperty ;
         rdfs:domain :VariantAlternativeID ;
         rdfs:range rdf:PlainLiteral ;
         rdfs:comment "The variant alternative ID."@en ;
         rdfs:label "valueID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variantCaller
:variantCaller rdf:type owl:DatatypeProperty ;
               rdfs:domain :Analysis ;
               rdfs:range rdf:PlainLiteral ;
               rdfs:comment "Reference to variant calling software / pipeline. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "variantCaller"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variantFilter
:variantFilter rdf:type owl:DatatypeProperty ;
               rdfs:domain :VariantQuality ;
               rdfs:range rdf:PlainLiteral ;
               rdfs:comment """FILTER — filter status: PASS if this position has passed all filters, i.e., a call is made at this position.
Otherwise, if the site has not passed all filters, a semicolon-separated list of codes for filters that fail. e.g.
“q10;s50” might indicate that at this site the quality is below 10 and the number of samples with data is below
50% of the total number of samples. ‘0’ is reserved and must not be used as a filter String. If filters have
not been applied, then this field must be set to the MISSING value. (String, no whitespace or semicolons
permitted, duplicate values not allowed.) [Definition Source: VCF Specification v4.4]"""@en ;
               rdfs:label "variantFilter"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variantInternalID
:variantInternalID rdf:type owl:DatatypeProperty ;
                   rdfs:domain :GenomicVariation ;
                   rdfs:range rdf:PlainLiteral ;
                   rdfs:comment "Reference to the **internal** variant ID. This represents the primary key/identifier of that variant **inside** a given Beacon instance. Different Beacon instances may use identical id values, referring to unrelated variants. Public identifiers such as the GA4GH Variant Representation Id (VRSid) MUST be returned in the `identifiers` section. A Beacon instance can, of course, use the VRSid as their own internal id but still MUST represent this then in the `identifiers` section. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                   rdfs:label "variantInternalID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variantQual
:variantQual rdf:type owl:DatatypeProperty ;
             rdfs:domain :VariantQuality ;
             rdfs:range xsd:float ;
             rdfs:comment """QUAL — quality: Phred-scaled quality score for the assertion made in ALT. i.e. −10log10 prob(call in ALT is
wrong). If ALT is ‘.’ (no variant) then this is −10log10 prob(variant), and if ALT is not ‘.’ this is −10log10
prob(no variant). If unknown, the MISSING value must be specified. (Float) [Definition Source: VCF Specification v4.4]"""@en ;
             rdfs:label "variantQual"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variantType
:variantType rdf:type owl:DatatypeProperty ;
             rdfs:domain :LegacyVariation ;
             rdfs:range rdf:PlainLiteral ;
             rdfs:comment "The `variantType` declares the nature of the variation in relation to a reference. In a response, it is used to describe the variation. Examples here are e.g. structural variants such as `DUP` (increased allelic count of material from the genomic region  between `start` and `end` positions without assumption about the placement of the additional sequence) or `DEL` (deletion of sequence following `start`). Either `alternateBases` or `variantType` is required in representing a `LegacyVariation`. Deafult value is \"SNP\". [Definition Source: Ga4GH Beacon v2 Data Model]"@en ;
             rdfs:label "variantType"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/variationCopies
:variationCopies rdf:type owl:DatatypeProperty ;
                 rdfs:domain :CopyNumberCount ;
                 rdfs:range xsd:integer ;
                 rdfs:comment "The integral number of copies of the subject in a system. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                 rdfs:label "variationCopies"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/vcfAlt
:vcfAlt rdf:type owl:DatatypeProperty ;
        rdfs:domain :VCFRecord ;
        rdfs:range rdf:PlainLiteral ;
        rdfs:comment "Alternate base. [Definition Source: Phenopacket v2 Data Model]"@en ;
        rdfs:label "vcfAlt"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/vcfChrom
:vcfChrom rdf:type owl:DatatypeProperty ;
          rdfs:domain :VCFRecord ;
          rdfs:range rdf:PlainLiteral ;
          rdfs:comment "Chromosome or contig identifier. [Definition Source: Phenopacket v2 Data Model]"@en ;
          rdfs:label "vcfChrom"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/vcfFilter
:vcfFilter rdf:type owl:DatatypeProperty ;
           rdfs:domain :VCFRecord ;
           rdfs:range rdf:PlainLiteral ;
           rdfs:comment "Filter status: PASS if this position has passed all filters. [Definition Source: Phenopacket v2 Data Model]"@en ;
           rdfs:label "vcfFilter"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/vcfInfo
:vcfInfo rdf:type owl:DatatypeProperty ;
         rdfs:domain :VCFRecord ;
         rdfs:range rdf:PlainLiteral ;
         rdfs:comment "Additional information: Semicolon-separated series of additional information fields. [Definition Source: Phenopacket v2 Data Model]"@en ;
         rdfs:label "vcfInfo"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/vcfPos
:vcfPos rdf:type owl:DatatypeProperty ;
        rdfs:domain :VCFRecord ;
        rdfs:range rdf:PlainLiteral ;
        rdfs:comment "The reference position, with the 1st base having position 1.  [Definition Source: Phenopacket v2 Data Model]"@en ;
        rdfs:label "vcfPos"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/vcfQual
:vcfQual rdf:type owl:DatatypeProperty ;
         rdfs:domain :VCFRecord ;
         rdfs:range rdf:PlainLiteral ;
         rdfs:comment "Quality: Phred-scaled quality score for the assertion made in ALT. [Definition Source: Phenopacket v2 Data Model]"@en ;
         rdfs:label "vcfQual"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/vcfRef
:vcfRef rdf:type owl:DatatypeProperty ;
        rdfs:domain :VCFRecord ;
        rdfs:range rdf:PlainLiteral ;
        rdfs:comment "Reference base. [Definition Source: Phenopacket v2 Data Model]"@en ;
        rdfs:label "vcfRef"@en .


#################################################################
#    Classes
#################################################################

###  http://www.w3.org/1999/02/22-rdf-syntax-ns#Seq
rdf:Seq rdf:type owl:Class .


###  http://www.w3.org/2000/10/swap/pim/contact#Person
<http://www.w3.org/2000/10/swap/pim/contact#Person> rdf:type owl:Class ;
                                                    rdfs:comment "A human being. [Definition Source: NCI]"@en ;
                                                    rdfs:label "Person"@en .


###  https://w3id.org/brainteaser/ontology/schema/DiseaseDisorderOrFinding
bto:DiseaseDisorderOrFinding rdf:type owl:Class ;
                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1511989" ;
                             rdfs:comment "A condition that is relevant to human neoplasms and non-neoplastic disorders. This includes observations, test results, history and other concepts relevant to the characterization of human pathologic conditions. [Definition Source: NCI]"@en ;
                             rdfs:isDefinedBy "http://purl.obolibrary.org/obo/NCIT_C7057" ;
                             rdfs:label "Disease, Disorder or Finding"@en .


###  https://w3id.org/brainteaser/ontology/schema/Group
bto:Group rdf:type owl:Class ;
          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1257890" ;
          rdfs:comment "A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) [Definition Source: NCI]"@en ;
          rdfs:isDefinedBy "http://purl.bioontology.org/ontology/SNOMEDCT/389109008" ;
          rdfs:label "Group (social concept)"@en .


###  https://w3id.org/brainteaser/ontology/schema/Patient
bto:Patient rdf:type owl:Class ;
            rdfs:subClassOf <http://www.w3.org/2000/10/swap/pim/contact#Person> ;
            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0030705" ;
            rdfs:comment "A person who receives medical attention, care, or treatment, or who is registered with medical professional or institution with the purpose to receive medical care when necessary. [Definition Source: NCI]"@en ;
            rdfs:isDefinedBy "http://purl.obolibrary.org/obo/NCIT_C16960" ;
            rdfs:label "Patient"@en ;
            rdfs:seeAlso <http://semanticscience.org/resource/SIO_000393> .


###  https://w3id.org/hereditary/ontology/genomics/schema/Age
:Age rdf:type owl:Class ;
     owl:equivalentClass [ rdf:type owl:Restriction ;
                           owl:onProperty :iso8601duration ;
                           owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                           owl:onDataRange rdf:PlainLiteral
                         ] ;
     rdfs:subClassOf :TimeElement ;
     <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0001779> ;
     rdfs:comment "Age value definition. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
     rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C25150> ;
     rdfs:label "Age"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/AgeRange
:AgeRange rdf:type owl:Class ;
          owl:equivalentClass [ rdf:type owl:Restriction ;
                                owl:onProperty :ageRangeEnd ;
                                owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                owl:onClass :Age
                              ] ,
                              [ rdf:type owl:Restriction ;
                                owl:onProperty :ageRangeStart ;
                                owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                owl:onClass :Age
                              ] ;
          rdfs:subClassOf :TimeElement ;
          rdfs:comment "Age range definition. [Definition Source: Ga4GH Beacon v2 Data Model]"@en ;
          rdfs:label "Age Range"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/AgeRangeDAD
:AgeRangeDAD rdf:type owl:Class ;
             owl:equivalentClass [ rdf:type owl:Restriction ;
                                   owl:onProperty :distribution ;
                                   owl:someValuesFrom :AgeRangeElementDistribution
                                 ] ;
             rdfs:subClassOf :DataAvailabilityAndDistribution ;
             rdfs:comment "Individual age range, obtained from individual level info of the cohort members. [Definition Source: GAGH Beacon v2 Data Model]"@en ;
             rdfs:label "Age Range Data Availability and Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/AgeRangeElementDistribution
:AgeRangeElementDistribution rdf:type owl:Class ;
                             owl:equivalentClass [ rdf:type owl:Restriction ;
                                                   owl:onProperty :elementType ;
                                                   owl:someValuesFrom :AgeRange
                                                 ] ;
                             rdfs:subClassOf :ElementDistribution ;
                             rdfs:comment "Results or counts for each category. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                             rdfs:label "Age Range Element Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Allele
:Allele rdf:type owl:Class ;
        <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0002085> ;
        rdfs:comment "The state of a molecule at a Location. [Definition Source: Ga4GH Variation Representation Specification (VRS) v1.2]"@en ;
        rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C16277> ;
        rdfs:label "Allele"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/AlleleOrigin
:AlleleOrigin rdf:type owl:Class ;
              rdfs:comment "SKOS Concept hierarchy comprising allele origin of variant in sample from the Variant Origin (SO:0001762). Categories are `somatic variant`, `germline variant`, `maternal variant`, `paternal variant`, `de novo variant`, `pedigree specific variant`, `population specific variant`. Corresponds to Variant Inheritance in FHIR. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
              rdfs:label "Allele Origin"@en ;
              rdfs:seeAlso <http://purl.obolibrary.org/obo/SO_0001762> .


###  https://w3id.org/hereditary/ontology/genomics/schema/Analysis
:Analysis rdf:type owl:Class ;
          owl:equivalentClass [ rdf:type owl:Restriction ;
                                owl:onProperty :analysisDate ;
                                owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                owl:onDataRange xsd:dateTime
                              ] ,
                              [ rdf:type owl:Restriction ;
                                owl:onProperty :analysisPipelineName ;
                                owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                owl:onDataRange rdf:PlainLiteral
                              ] ;
          <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0936012> ;
          rdfs:comment "A sequencing bioinformatics analysis. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
          rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C25391> ;
          rdfs:label "Analysis"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Assay
:Assay rdf:type owl:Class ;
       <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1510438> ;
       rdfs:comment "The assay used to produce the measurement. [Definition Source: Phenopacket v2]"@en ;
       rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C60819> ;
       rdfs:label "Assay"@en ;
       rdfs:seeAlso <http://purl.obolibrary.org/obo/OBI_0000070> .


###  https://w3id.org/hereditary/ontology/genomics/schema/Biosample
:Biosample rdf:type owl:Class ;
           owl:equivalentClass [ rdf:type owl:Restriction ;
                                 owl:onProperty :biosampleStatus ;
                                 owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                 owl:onClass :BiosampleStatus
                               ] ,
                               [ rdf:type owl:Restriction ;
                                 owl:onProperty :sampleOriginType ;
                                 owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                 owl:onClass :SampleOriginType
                               ] ;
           <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1706958> ;
           rdfs:comment "BioSamples are products of treatments that are of interest. BioSamples are often used as the sources for other biosamples. The Type attribute describes the role the BioSample holds in the treatment hierarchy. This type can be an extract. (caMAGE) [Definition Source: NCI]"@en ;
           rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C43412> ;
           rdfs:label "Biosample"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/BiosampleStatus
:BiosampleStatus rdf:type owl:Class ;
                 rdfs:comment "SKOS Concept hierarchy from Experimental Factor Ontology (EFO) Material Entity term (BFO:0000040). Classification of the sample in abnormal sample (EFO:0009655) or reference sample (EFO:0009654)."@en ;
                 rdfs:label "Biosample Status"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CaseLevelVariant
:CaseLevelVariant rdf:type owl:Class ;
                  owl:equivalentClass [ rdf:type owl:Restriction ;
                                        owl:onProperty :biosample ;
                                        owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onClass :Biosample
                                      ] ;
                  rdfs:comment "Reports about the variation instances observed in individual analyses. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:label "Case Level Variant"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/ChromosomeLocation
:ChromosomeLocation rdf:type owl:Class ;
                    owl:equivalentClass [ rdf:type owl:Restriction ;
                                          owl:onProperty :chromosomeSpecies ;
                                          owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                          owl:onClass :Species
                                        ] ,
                                        [ rdf:type owl:Restriction ;
                                          owl:onProperty :cytobandInterval ;
                                          owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                          owl:onClass :CytobandInterval
                                        ] ,
                                        [ rdf:type owl:Restriction ;
                                          owl:onProperty :locationChr ;
                                          owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                          owl:onDataRange rdf:PlainLiteral
                                        ] ;
                    rdfs:subClassOf :Location ;
                    rdfs:comment "A Location on a chromosome defined by a species and chromosome name. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                    rdfs:label "Chromosome Location"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Cohort
:Cohort rdf:type owl:Class ;
        owl:equivalentClass [ rdf:type owl:Restriction ;
                              owl:onProperty :cohortName ;
                              owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                              owl:onDataRange rdf:PlainLiteral
                            ] ,
                            [ rdf:type owl:Restriction ;
                              owl:onProperty :cohortType ;
                              owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                              owl:onDataRange rdf:PlainLiteral
                            ] ;
        <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0599755> ;
        rdfs:comment "A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage. [Definition Source: The Experimental Factor Ontology (EFO)]"@en ;
        rdfs:isDefinedBy <http://www.ebi.ac.uk/efo/EFO_0004445> ;
        rdfs:label "Cohort"@en ;
        rdfs:seeAlso <http://purl.obolibrary.org/obo/NCIT_C61512> .


###  https://w3id.org/hereditary/ontology/genomics/schema/CohortCriteria
:CohortCriteria rdf:type owl:Class ;
                <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C5237785> ;
                rdfs:comment "Criteria used for defining the cohort. It is assumed that all cohort participants will match or NOT match such criteria. [Definition Source: Beacon v2 Data Model]"@en ;
                rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C166209> ;
                rdfs:label "Cohort Criteria"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CohortDataType
:CohortDataType rdf:type owl:Class ;
                rdfs:comment "SKOS Concept hierarchy describing the type of information. Preferably values from Genomics Cohorts Knowledge Ontology (GeCKO) or others when GeCKO is not applicable. [Definition Source: Beacon v2 Data Model]"@en ;
                rdfs:label "Cohort Data Type"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CohortDesign
:CohortDesign rdf:type owl:Class ;
              rdfs:comment "SKOS Concept hierarchy describing the cohort type by its design. A plan specification comprised of protocols (which may specify how and what kinds of data will be gathered) that are executed as part of an investigation and is realized during a study design execution. Value from Ontologized MIABIS (OMIABIS) Study design ontology term tree (OBI:0500000). [Definition Source: Beacon v2 Data Model]"@en ;
              rdfs:label "Cohort Design"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CohortDisease
:CohortDisease rdf:type owl:Class ;
               rdfs:comment "Diseases in cohort inclusion criteria. [Definition Source: Beacon v2 Data Model]"@en ;
               rdfs:label "Cohort Disease"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CohortSex
:CohortSex rdf:type owl:Class ;
           <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1522384> ;
           rdfs:comment "Sex of the individual. Recommended values from NCIT General Qualifier (NCIT:C27993). Sex refers to the biological characteristics that define humans as female or male. While these sets of biological characteristics are not mutually exclusive, as there are individuals who possess both, they tend to differentiate humans as males and females. [Definition Source: World Health Organization]"@en ;
           rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C28421> ;
           rdfs:label "Cohort Sex"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CollectionEvent
:CollectionEvent rdf:type owl:Class ;
                 rdfs:comment "Aggregated information of cohort data collection obtained from individual level info of the cohort members."@en ;
                 rdfs:label "Collection Event"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/ComposedSequenceExpression
:ComposedSequenceExpression rdf:type owl:Class ;
                            rdfs:subClassOf rdf:Seq ,
                                            :SequenceExpression ;
                            rdfs:comment "An expression of a sequence composed from multiple other Sequence Expressions objects. MUST have at least one component that is not a ref:LiteralSequenceExpression. CANNOT be composed from nested composed sequence expressions. [Definition Source: GA4GH Variation Representation SPecification (VRS) v1.2]"@en ;
                            rdfs:label "Composed Sequence Expression"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CopyNumberAssessment
:CopyNumberAssessment rdf:type owl:Class ;
                      <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C5552747> ;
                      rdfs:comment "SKOS Concept hierarchy describing the type of copy number change allowed."@en ;
                      rdfs:isDefinedBy <http://www.ebi.ac.uk/efo/EFO_0030063> ;
                      rdfs:label "Copy Number Assessment"@en ;
                      rdfs:seeAlso <http://purl.obolibrary.org/obo/NCIT_C181330> .


###  https://w3id.org/hereditary/ontology/genomics/schema/CopyNumberChange
:CopyNumberChange rdf:type owl:Class ;
                  owl:equivalentClass [ rdf:type owl:Restriction ;
                                        owl:onProperty :location ;
                                        owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onClass :Location
                                      ] ,
                                      [ rdf:type owl:Restriction ;
                                        owl:onProperty :variationCopyChange ;
                                        owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onClass :CopyNumberAssessment
                                      ] ;
                  rdfs:comment "An assessment of the copy number of a Location or a Feature within a system (e.g. genome, cell, etc.) relative to a baseline ploidy. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                  rdfs:label "Copy Number Change"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CopyNumberCount
:CopyNumberCount rdf:type owl:Class ;
                 owl:equivalentClass [ rdf:type owl:Restriction ;
                                       owl:onProperty :location ;
                                       owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                       owl:onClass :Location
                                     ] ,
                                     [ rdf:type owl:Restriction ;
                                       owl:onProperty :variationCopies ;
                                       owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                       owl:onDataRange xsd:integer
                                     ] ;
                 rdfs:comment "The absolute count of discrete copies of a Location or Feature, within a system (e.g. genome, cell, etc.). [Defintion Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                 rdfs:label "Copy Number Count"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/CytobandInterval
:CytobandInterval rdf:type owl:Class ;
                  owl:equivalentClass [ rdf:type owl:Restriction ;
                                        owl:onProperty :cytobandEnd ;
                                        owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onDataRange rdf:PlainLiteral
                                      ] ,
                                      [ rdf:type owl:Restriction ;
                                        owl:onProperty :cytobandStart ;
                                        owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onDataRange rdf:PlainLiteral
                                      ] ;
                  <http://purl.org/dc/terms/conformsTo> <http://purl.obolibrary.org/obo/NCIT_C164377> ;
                  rdfs:comment "A contiguous span on a chromosome defined by cytoband features. The span includes the constituent regions described by the start and end cytobands, as well as any intervening regions. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                  rdfs:isDefinedBy <https://uts.nlm.nih.gov/uts/umls/concept/C5236199> ;
                  rdfs:label "Cytoband Interval"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/DataAvailabilityAndDistribution
:DataAvailabilityAndDistribution rdf:type owl:Class ;
                                 owl:equivalentClass [ rdf:type owl:Restriction ;
                                                       owl:onProperty :availability ;
                                                       owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                                       owl:onDataRange xsd:boolean
                                                     ] ;
                                 rdfs:comment "Aggregated information obtained from individual level info of the cohort members. [Definition Source: GAGH Beacon v2 Data Model]"@en ;
                                 rdfs:label "Data Availability and Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/DataTypeDAD
:DataTypeDAD rdf:type owl:Class ;
             owl:equivalentClass [ rdf:type owl:Restriction ;
                                   owl:onProperty :distribution ;
                                   owl:someValuesFrom :DataTypeElementDistribution
                                 ] ;
             rdfs:subClassOf :DataAvailabilityAndDistribution ;
             rdfs:comment "Aggregated data type information available for each cohort data type as declared in `cohortDataTypes`, and obtained from individual level info of the cohort members. [Definition Source: GAGH Beacon v2 Data Model]"@en ;
             rdfs:label "Data Type Data Availability and Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/DataTypeElementDistribution
:DataTypeElementDistribution rdf:type owl:Class ;
                             owl:equivalentClass [ rdf:type owl:Restriction ;
                                                   owl:onProperty :elementType ;
                                                   owl:someValuesFrom :CohortDataType
                                                 ] ;
                             rdfs:subClassOf :ElementDistribution ;
                             rdfs:comment "Results or counts for each data type category. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                             rdfs:label "Data Type Element Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/DerivedSequenceExpression
:DerivedSequenceExpression rdf:type owl:Class ;
                           owl:equivalentClass [ rdf:type owl:Restriction ;
                                                 owl:onProperty :sequenceLocation ;
                                                 owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                                 owl:onClass :SequenceLocation
                                               ] ,
                                               [ rdf:type owl:Restriction ;
                                                 owl:onProperty :reverseComplement ;
                                                 owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                                 owl:onDataRange xsd:boolean
                                               ] ;
                           rdfs:subClassOf :SequenceExpression ;
                           rdfs:comment "An approximate expression of a sequence that is derived from a referenced sequence location. Use of this class indicates that the derived sequence is approximately equivalent to the reference indicated, and is typically used for describing large regions in contexts where the use of an approximate sequence is inconsequential. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                           rdfs:label "Derived Sequence Expression"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/DiagnosticMarker
:DiagnosticMarker rdf:type owl:Class ;
                  <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1511876> ;
                  rdfs:comment "Clinically relevant biomarkers. RECOMMENDED. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C19591> ;
                  rdfs:label "Diagnostic Marker"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/DiseaseDAD
:DiseaseDAD rdf:type owl:Class ;
            owl:equivalentClass [ rdf:type owl:Restriction ;
                                  owl:onProperty :distribution ;
                                  owl:someValuesFrom :DiseaseElementDistribution
                                ] ;
            rdfs:subClassOf :DataAvailabilityAndDistribution ;
            rdfs:comment "Aggregated information of disease/condition(s) obtained from individual level info of the cohort members. [Definition Source: GAGH Beacon v2 Data Model]"@en ;
            rdfs:label "Disease Data Availability and Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/DiseaseElementDistribution
:DiseaseElementDistribution rdf:type owl:Class ;
                            owl:equivalentClass [ rdf:type owl:Restriction ;
                                                  owl:onProperty :elementType ;
                                                  owl:someValuesFrom :CohortDisease
                                                ] ;
                            rdfs:subClassOf :ElementDistribution ;
                            rdfs:comment "Results or counts for each disease category. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                            rdfs:label "Disease Element Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/DiseaseStage
:DiseaseStage rdf:type owl:Class ;
              <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0699749> ;
              rdfs:comment "SKOS Concept hierarchy descrbinig the disease stage. Value from Ontology for General Medical Science (OGMS), e.g. acute onset (OGMS:0000119). [Defintion Source: Beacon v2 Data Model]"@en ;
              rdfs:isDefinedBy <http://www.ebi.ac.uk/efo/EFO_0000410> ;
              rdfs:label "Disease Stage"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/ElementDistribution
:ElementDistribution rdf:type owl:Class ;
                     rdfs:comment "Results or counts for each category. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                     rdfs:label "Element Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/EthnicityDAD
:EthnicityDAD rdf:type owl:Class ;
              owl:equivalentClass [ rdf:type owl:Restriction ;
                                    owl:onProperty :distribution ;
                                    owl:someValuesFrom :EthnicityElementDistribution
                                  ] ;
              rdfs:subClassOf :DataAvailabilityAndDistribution ;
              rdfs:comment "Aggregated information of ethnicity obtained from individual level info of the cohort members. [Definition Source: GAGH Beacon v2 Data Model]"@en ;
              rdfs:label "Ethnicity Data Availability and Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/EthnicityElementDistribution
:EthnicityElementDistribution rdf:type owl:Class ;
                              rdfs:subClassOf :ElementDistribution ;
                              rdfs:comment "Results or counts for each ethnicity category. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                              rdfs:label "Ethnicity Element Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/EventTimeline
:EventTimeline rdf:type owl:Class ;
               rdfs:comment "Aggregated information of dates of visit | diagnostic | inclusion in study obtained from individual level info of the cohort members. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:label "Event Timeline"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/FrequencyInPopulation
:FrequencyInPopulation rdf:type owl:Class ;
                       owl:equivalentClass [ rdf:type owl:Restriction ;
                                             owl:onProperty :frequency ;
                                             owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                             owl:onClass :PopulationFrequency
                                           ] ,
                                           [ rdf:type owl:Restriction ;
                                             owl:onProperty :source ;
                                             owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                             owl:onDataRange rdf:PlainLiteral
                                           ] ,
                                           [ rdf:type owl:Restriction ;
                                             owl:onProperty :sourceReference ;
                                             owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                             owl:onDataRange rdf:PlainLiteral
                                           ] ;
                       rdfs:comment "Reports frequency information of the considered genomic variation."@en ;
                       rdfs:label "Frequency In Population"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/GenomicFeature
:GenomicFeature rdf:type owl:Class ;
                rdfs:comment "Genomic feature(s) related to the variant. NOTE: Although genes could also be referenced using these attributes, they have an independent section to allow direct queries. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                rdfs:label "Genomic Feature"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/GenomicFeatureClass
:GenomicFeatureClass rdf:type owl:Class ;
                     owl:equivalentClass [ rdf:type owl:Restriction ;
                                           owl:onProperty :genomicFeatureClass ;
                                           owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                           owl:onClass :GenomicFeatureClass
                                         ] ;
                     rdfs:comment "SKOS Concept hierarchy describing the class of genomic feature affected by the variant. Values from SO (Sequence ontology) are recommended, e.g. `SO:0001623: 5 prime UTR variant`"@en ;
                     rdfs:label "Genomic Feature Class"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/GenomicVariation
:GenomicVariation rdf:type owl:Class ;
                  owl:equivalentClass [ rdf:type owl:Restriction ;
                                        owl:onProperty :variantInternalID ;
                                        owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onDataRange rdf:PlainLiteral
                                      ] ;
                  <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C5555770> ;
                  rdfs:comment "A genomic variant entry. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C179559> ;
                  rdfs:label "Genomic Variation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Genotype
:Genotype rdf:type owl:Class ;
          owl:equivalentClass [ rdf:type owl:Restriction ;
                                owl:onProperty :genotypeMember ;
                                owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                owl:onClass :GenotypeMember
                              ] ,
                              [ rdf:type owl:Restriction ;
                                owl:onProperty :molecularVariationCount ;
                                owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                owl:onDataRange xsd:integer
                              ] ;
          <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0017431> ;
          rdfs:comment "A quantified set of Molecular Variation associated with a genomic locus. [Defintion Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
          rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C16631> ;
          rdfs:label "Genotype"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/GenotypeMember
:GenotypeMember rdf:type owl:Class ;
                owl:equivalentClass [ rdf:type owl:Restriction ;
                                      owl:onProperty :genotypeVariation ;
                                      owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                      owl:onClass :MolecularVariation
                                    ] ,
                                    [ rdf:type owl:Restriction ;
                                      owl:onProperty :genotypeCount ;
                                      owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                      owl:onDataRange xsd:integer
                                    ] ;
                rdfs:comment "A class for expressing the count of a specific Molecular Variation present in-trans at a genomic locus represented by a Genotype. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                rdfs:label "Genotype Member"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/GeographicLocation
:GeographicLocation rdf:type owl:Class ;
                    rdfs:comment "Country or region of origin of the individual (birthplace or residence place regardless of ethnic origin). Value from GAZ Geographic Location ontology (GAZ:00000448). [Definition Source: Beacon v2 Data Model]"@en ;
                    rdfs:isDefinedBy <http://purl.obolibrary.org/obo/GAZ_00000448> ;
                    rdfs:label "Geographic Location"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/GestationalAge
:GestationalAge rdf:type owl:Class ;
                owl:equivalentClass [ rdf:type owl:Restriction ;
                                      owl:onProperty :gestationalWeeks ;
                                      owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                      owl:onDataRange xsd:integer
                                    ] ;
                rdfs:subClassOf :TimeElement ;
                <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0017504> ;
                rdfs:comment "Gestational age (or menstrual age) is the time elapsed between the first day of the last normal menstrual period and the day of delivery. The first day of the last menstrual period occurs approximately 2 weeks before ovulation and approximately 3 weeks before implantation of the blastocyst. Because most women know when their last period began but not when ovulation occurred, this definition traditionally has been used when estimating the expected date of delivery. In contrast, chronological age (or postnatal age) is the time elapsed after birth. [Definition Source: Phenopackets v2]"@en ;
                rdfs:label "Gestational Age"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Haplotype
:Haplotype rdf:type owl:Class ;
           owl:equivalentClass [ rdf:type owl:Restriction ;
                                 owl:onProperty :haplotypeMember ;
                                 owl:minQualifiedCardinality "2"^^xsd:nonNegativeInteger ;
                                 owl:onClass :Allele
                               ] ;
           <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0018591> ;
           rdfs:comment "A set of non-overlapping Allele members that co-occur on the same molecule. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
           rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C63547> ;
           rdfs:label "Haplotype"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/LegacyVariation
:LegacyVariation rdf:type owl:Class ;
                 owl:equivalentClass [ rdf:type owl:Restriction ;
                                       owl:onProperty :location ;
                                       owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                       owl:onClass :Location
                                     ] ,
                                     [ rdf:type owl:Restriction ;
                                       owl:onProperty :alternateBases ;
                                       owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                       owl:onDataRange rdf:PlainLiteral
                                     ] ,
                                     [ rdf:type owl:Restriction ;
                                       owl:onProperty :variantType ;
                                       owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                       owl:onDataRange rdf:PlainLiteral
                                     ] ;
                 rdfs:subClassOf :GenomicVariation ;
                 rdfs:comment "Other genomic variations."@en ;
                 rdfs:label "Legacy Variation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/LibrarySource
:LibrarySource rdf:type owl:Class ;
               rdfs:comment """SKOS Concept hierarchy describing the source of the sequencing or hybridization library. [Definition Source: GA4GH Beacon v2 Data Model].

The library source specifies the type of source material that is being sequenced. [Definition Source: Genomic Epidemiology Ontology (GenEpiO)]"""@en ;
               rdfs:isDefinedBy <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
               rdfs:label "Library Source"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/LiteralSequenceExpression
:LiteralSequenceExpression rdf:type owl:Class ;
                           owl:equivalentClass [ rdf:type owl:Restriction ;
                                                 owl:onProperty :sequence ;
                                                 owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                                 owl:onDataRange rdf:PlainLiteral
                                               ] ;
                           rdfs:subClassOf :SequenceExpression ;
                           rdfs:comment "An explicit expression of a Sequence. [Defintion Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                           rdfs:label "Literal Sequence Expression"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Location
:Location rdf:type owl:Class ;
          rdfs:comment "A contiguous segment of a biological sequence. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
          rdfs:label "Location"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/LocationDAD
:LocationDAD rdf:type owl:Class ;
             owl:equivalentClass [ rdf:type owl:Restriction ;
                                   owl:onProperty :distribution ;
                                   owl:someValuesFrom :LocationElementDistribution
                                 ] ;
             rdfs:subClassOf :DataAvailabilityAndDistribution ;
             rdfs:comment "Aggregated information of geographic location obtained from individual level info of the cohort members. [Definition Source: GAGH Beacon v2 Data Model]"@en ;
             rdfs:label "Location Data Availability and Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/LocationElementDistribution
:LocationElementDistribution rdf:type owl:Class ;
                             owl:equivalentClass [ rdf:type owl:Restriction ;
                                                   owl:onProperty :elementType ;
                                                   owl:someValuesFrom :GeographicLocation
                                                 ] ;
                             rdfs:subClassOf :ElementDistribution ;
                             rdfs:comment "Results or counts for each location category. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                             rdfs:label "Location Element Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Measurement
:Measurement rdf:type owl:Class ;
             owl:equivalentClass [ rdf:type owl:Restriction ;
                                   owl:onProperty :assay ;
                                   owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                   owl:onClass :Assay
                                 ] ,
                                 [ rdf:type owl:Restriction ;
                                   owl:onProperty :measurementValue ;
                                   owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                   owl:onDataRange xsd:float
                                 ] ;
             <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0242485> ;
             rdfs:comment "Definition of a measurement class. Provenance: GA4GH Phenopackets v2 `Measurement`. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
             rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C25209> ;
             rdfs:label "Measurement"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/MolecularAttribute
:MolecularAttribute rdf:type owl:Class ;
                    rdfs:comment "Chemical properties, physical properties, and structural properties of molecules, including drugs. Molecular properties typically do not include pharmacological or biological properties of a chemical compound."@en ;
                    rdfs:label "Molecular Attribute"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/MolecularEffect
:MolecularEffect rdf:type owl:Class ;
                 <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C5909625> ;
                 rdfs:comment "SKOS Concept hiearchy describing the class of molecular consequence generated by the variant. Values from SO (Sequence Ontology) are recommended, e.g.  `SO:0001583: missense variant`."@en ;
                 rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C204195> ;
                 rdfs:label "Molecular Effect"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/MolecularVariation
:MolecularVariation rdf:type owl:Class ;
                    rdfs:subClassOf :GenomicVariation ;
                    <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C3273703> ;
                    rdfs:comment "A Variation on a contiguous molecule. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                    rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C97926> ;
                    rdfs:label "Molecular Variation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/ObtentionProcedure
:ObtentionProcedure rdf:type owl:Class ;
                    <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0184661> ;
                    rdfs:comment "An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects. [Definition Source: NCI]"@en ;
                    rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C25218> ;
                    rdfs:label "Obtention Procedure"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PathologicalStage
:PathologicalStage rdf:type owl:Class ;
                   rdfs:comment "Pathological stage, if applicable, preferably as subclass of NCIT:C28108 - Disease Stage Qualifier. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                   rdfs:label "Pathological Stage"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PathologicalTNMFinding
:PathologicalTNMFinding rdf:type owl:Class ;
                        rdfs:comment "Pathological TNM findings, if applicable, preferably as subclass of Cancer TNM Finding Category (NCIT:C48698). [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                        rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C48698> ;
                        rdfs:label "Pathological TNM Finding"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PhenoClinicCategory
:PhenoClinicCategory rdf:type owl:Class ;
                     rdfs:comment "SKOS Concept Hierarchy comprising the type of disease, condition, phenotypic measurement, etc."@en ;
                     rdfs:label "PhenoClinic Category"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PhenoClinicEffect
:PhenoClinicEffect rdf:type owl:Class ;
                   rdfs:comment "Annotated effects on disease or phenotypes. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                   rdfs:label "PhenoClinic Effect"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PhenoClinicEvidence
:PhenoClinicEvidence rdf:type owl:Class ;
                     rdfs:comment "Ontology term for the type of evidence supporting variant-disease association Recommended: values from the Evidence & Conclusion Ontology (ECO) [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                     rdfs:label "PhenoClinic Evidence"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PhenotypeDAD
:PhenotypeDAD rdf:type owl:Class ;
              owl:equivalentClass [ rdf:type owl:Restriction ;
                                    owl:onProperty :distribution ;
                                    owl:someValuesFrom :PhenotypeElementDistribution
                                  ] ;
              rdfs:subClassOf :DataAvailabilityAndDistribution ;
              rdfs:comment "Aggregated information of phenotype(s) obtained from individual level info of the cohort members. [Definition Source: GAGH Beacon v2 Data Model]"@en ;
              rdfs:label "Phenotype Data Availability and Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PhenotypeElementDistribution
:PhenotypeElementDistribution rdf:type owl:Class ;
                              owl:equivalentClass [ rdf:type owl:Restriction ;
                                                    owl:onProperty :elementType ;
                                                    owl:someValuesFrom :PhenotypicFeature
                                                  ] ;
                              rdfs:subClassOf :ElementDistribution ;
                              rdfs:comment "Results or counts for each phenotype category. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                              rdfs:label "Phenotype Element Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PhenotypicFeature
:PhenotypicFeature rdf:type owl:Class ;
                   owl:equivalentClass [ rdf:type owl:Restriction ;
                                         owl:onProperty :featureType ;
                                         owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                         owl:onClass :PhenotypicFeatureType
                                       ] ;
                   rdfs:comment "Describes a phenotype that characterizes the subject or biosample. [Definition Source: GA4GH Beaocn v2 Data Model]"@en ;
                   rdfs:label "Phenotypic Feature"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PhenotypicFeatureModifier
:PhenotypicFeatureModifier rdf:type owl:Class ;
                           rdfs:comment "SKOS Concept hierarchy to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. Example use here would be one or more terms from HPO Clinical Modifier (HP:0012823). Source: Phenopackets v2 [Definition Source: Beacon v2 Data Model]"@en ;
                           rdfs:label "Phenotypic Feature Modifier"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PhenotypicFeatureType
:PhenotypicFeatureType rdf:type owl:Class ;
                       rdfs:comment "SKOS Concept hierarchy denoting the phenotypic feature, preferably using a value from Human Phenotype Ontology (HPO). [Definition Source: Beacon v2 Data Model]"@en ;
                       rdfs:label "Phenotypic Feature Type"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PlatformModel
:PlatformModel rdf:type owl:Class ;
               rdfs:comment "SKOS Concept hierarchy describing the experimental platform or methodology used. For sequencing platforms the use of \"OBI:0400103 - DNA sequencer\" is suggested."@en ;
               rdfs:label "Platform Model"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/PopulationFrequency
:PopulationFrequency rdf:type owl:Class ;
                     owl:equivalentClass [ rdf:type owl:Restriction ;
                                           owl:onProperty :alleleFrequency ;
                                           owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                           owl:onDataRange rdf:PlainLiteral
                                         ] ,
                                         [ rdf:type owl:Restriction ;
                                           owl:onProperty :population ;
                                           owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                           owl:onDataRange rdf:PlainLiteral
                                         ] ;
                     rdfs:comment "Reports frequency information of the considered poplutation."@en ;
                     rdfs:label "Population Frequency"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/RepeatedSequenceExpression
:RepeatedSequenceExpression rdf:type owl:Class ;
                            rdfs:subClassOf :SequenceExpression ;
                            rdfs:comment "An expression of a sequence comprised of a tandem repeating subsequence. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                            rdfs:label "Repeated Sequence Expression"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Run
:Run rdf:type owl:Class ;
     owl:equivalentClass [ rdf:type owl:Restriction ;
                           owl:onProperty :biosample ;
                           owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                           owl:onClass :Biosample
                         ] ,
                         [ rdf:type owl:Restriction ;
                           owl:onProperty :runDate ;
                           owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                           owl:onDataRange xsd:dateTime
                         ] ;
     rdfs:comment "An experimental run (e.g. sequencing run, array processing...) leading to the raw data for the (computational) analysis. [Definition Source: Ga4GH Beacon v2 Data Model]"@en ;
     rdfs:label "Run"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SampleOriginDetail
:SampleOriginDetail rdf:type owl:Class ;
                    rdfs:comment "Tissue from which the sample was taken or sample origin matching the category set in 'sampleOriginType'. Value from Uber-anatomy ontology (UBERON) or BRENDA tissue / enzyme source (BTO), Ontology for Biomedical Investigations (OBI) or Cell Line Ontology (CLO). [Definition source: GA4GH Beacon v2 Data Model]"@en ;
                    rdfs:label "Sample Origin Detail"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SampleOriginType
:SampleOriginType rdf:type owl:Class ;
                  rdfs:comment "Category of sample origin. Value from Ontology for Biomedical Investigations (OBI) material entity (BFO:0000040) ontology. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:label "Sample Origin Type"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SampleProcessing
:SampleProcessing rdf:type owl:Class ;
                  rdfs:comment "Status of how the specimen was processed. Example: a child term of EFO:0009091. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:label "Sample Processing"@en ;
                  rdfs:seeAlso <http://www.ebi.ac.uk/efo/EFO_0009091> .


###  https://w3id.org/hereditary/ontology/genomics/schema/SequenceExpression
:SequenceExpression rdf:type owl:Class ;
                    rdfs:comment "An expression describing a Sequence. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                    rdfs:label "Sequence Expression"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SequenceInterval
:SequenceInterval rdf:type owl:Class ;
                  owl:equivalentClass [ rdf:type owl:Restriction ;
                                        owl:onProperty :sequenceIntervalEnd ;
                                        owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onDataRange rdf:PlainLiteral
                                      ] ,
                                      [ rdf:type owl:Restriction ;
                                        owl:onProperty :sequenceIntervalStart ;
                                        owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onDataRange rdf:PlainLiteral
                                      ] ;
                  rdfs:comment "A Sequence Interval represents a span on a Sequence. Positions are always represented by contiguous spans using interbase coordinates or coordinate ranges. [Definition Source: GA4GH Variation Representation Specification (VRS) v1.2]"@en ;
                  rdfs:label "Sequence Interval"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SequenceLocation
:SequenceLocation rdf:type owl:Class ;
                  owl:equivalentClass [ rdf:type owl:Restriction ;
                                        owl:onProperty :sequenceInterval ;
                                        owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onClass :SequenceInterval
                                      ] ,
                                      [ rdf:type owl:Restriction ;
                                        owl:onProperty :referenceSequence ;
                                        owl:qualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                        owl:onDataRange rdf:PlainLiteral
                                      ] ;
                  rdfs:subClassOf :Location ;
                  rdfs:comment "A Location defined by an interval on a referenced Sequence. The reference is typically a chromosome, transcript, or protein sequence. [Definition Source: Variation Representation Specification (VRS) v1.2]"@en ;
                  rdfs:label "Sequence Location"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Severity
:Severity rdf:type owl:Class ;
          rdfs:comment "SKOS Concept Hierarchy describing the severity level."@en ;
          rdfs:isDefinedBy <https://hpo.jax.org/browse/term/HP:0012824> ;
          rdfs:label "Severity"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SexDAD
:SexDAD rdf:type owl:Class ;
        owl:equivalentClass [ rdf:type owl:Restriction ;
                              owl:onProperty :distribution ;
                              owl:someValuesFrom :SexElementDistribution
                            ] ;
        rdfs:subClassOf :DataAvailabilityAndDistribution ;
        rdfs:comment "Aggregated information of sex(es) obtained from individual level info of the cohort members. [Definition Source: GAGH Beacon v2 Data Model]"@en ;
        rdfs:label "Sex Data Availability and Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SexElementDistribution
:SexElementDistribution rdf:type owl:Class ;
                        owl:equivalentClass [ rdf:type owl:Restriction ;
                                              owl:onProperty :elementType ;
                                              owl:someValuesFrom :CohortSex
                                            ] ;
                        rdfs:subClassOf :ElementDistribution ;
                        rdfs:comment "Results or counts for each sex category. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                        rdfs:label "Sex Element Distribution"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SoftwareTool
:SoftwareTool rdf:type owl:Class ;
              owl:equivalentClass [ rdf:type owl:Restriction ;
                                    owl:onProperty :toolName ;
                                    owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                    owl:onDataRange rdf:PlainLiteral
                                  ] ,
                                  [ rdf:type owl:Restriction ;
                                    owl:onProperty :toolReference ;
                                    owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                    owl:onDataRange rdf:PlainLiteral
                                  ] ,
                                  [ rdf:type owl:Restriction ;
                                    owl:onProperty :toolVersion ;
                                    owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                    owl:onDataRange rdf:PlainLiteral
                                  ] ;
              rdfs:comment "Software used to evaluate phenoclinic effects."@en ;
              rdfs:label "Software Tool"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Species
:Species rdf:type owl:Class ;
         <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1705920> ;
         rdfs:comment "SKOS Concept hierarchy representing a species from the NCBI species taxonomy."@en ;
         rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C45293> ;
         rdfs:label "Species"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/SystemicVariation
:SystemicVariation rdf:type owl:Class ;
                   rdfs:subClassOf :GenomicVariation ;
                   rdfs:comment "A Variation of multiple molecules in the context of a system, e.g. a genome, sample, or homologous chromosomes. [Definition Source: Ga4GH Variation Representation Specification (VRS) v1.2]"@en ;
                   rdfs:label "Systemic Variation"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/TimeElement
:TimeElement rdf:type owl:Class ;
             rdfs:comment "This class identifies time elements, e.g. age, time interval, and timestamp."@en ;
             rdfs:label "Time Element"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/TimeInterval
:TimeInterval rdf:type owl:Class ;
              owl:equivalentClass [ rdf:type owl:Restriction ;
                                    owl:onProperty :timeIntervalEnd ;
                                    owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                    owl:onClass :Timestamp
                                  ] ,
                                  [ rdf:type owl:Restriction ;
                                    owl:onProperty :timeIntervalStart ;
                                    owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                    owl:onClass :Timestamp
                                  ] ;
              rdfs:subClassOf :TimeElement ;
              rdfs:comment "Time interval with start and end defined as ISO8601 time stamps. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
              rdfs:label "Time Interval"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Timestamp
:Timestamp rdf:type owl:Class ;
           owl:equivalentClass [ rdf:type owl:Restriction ;
                                 owl:onProperty :timestamp ;
                                 owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ;
                                 owl:onDataRange xsd:dateTimeStamp
                               ] ;
           rdfs:subClassOf :TimeElement ;
           rdfs:comment "A timestamp is a sequence of characters or encoded information identifying when a certain event occurred, usually giving date and time of day, sometimes accurate to a small fraction of a second. [Defintion Source:Wikipedia]"@en ;
           rdfs:label "Timestamp" .


###  https://w3id.org/hereditary/ontology/genomics/schema/TumorGrade
:TumorGrade rdf:type owl:Class ;
            rdfs:comment "SKOS Concept hierarchy representing the tumor grade. Child term of NCIT:C28076 (Disease Grade Qualifier) or equivalent. [Definition Source: GA4GH Beacon v2 Data model]"@en ;
            rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C28076> ;
            rdfs:label "Tumor Grade"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/TumorProgression
:TumorProgression rdf:type owl:Class ;
                  <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C0178874> ;
                  rdfs:comment "Tumor progression category indicating primary, metastatic or recurrent progression. Ontology value from Neoplasm by Special Category ontology (NCIT:C7062). [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C17609> ;
                  rdfs:label "Tumor Progression"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/UnitOfMeasure
:UnitOfMeasure rdf:type owl:Class ;
               rdfs:comment "The kind of unit. Recommended from NCIT Unit of Category ontology term (NCIT:C42568) descendants. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
               rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C42568> ;
               rdfs:label "Unit Of Measure"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/VCFFile
:VCFFile rdf:type owl:Class ;
         <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C4284335> ;
         rdfs:comment "A Variant Call Format (VCF) file."@en ;
         rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C172216> ;
         rdfs:label "VCF File"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/VCFRecord
:VCFRecord rdf:type owl:Class ;
           rdfs:comment "Describes variants using the Variant Call Format, which is in near universal use for exome, genome, and other Next-Generation-Sequencing-based variant calling. It is an appropriate option to use for variants reported according to their chromosomal location as derived from a VCF file. [Definition Source: Phenopacket v2 Data Model]"@en ;
           rdfs:label "VCF Record"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/VariantAlternativeID
:VariantAlternativeID rdf:type owl:Class ;
                      rdfs:comment "Cross-referencing ID(s), for the variant in other databases (e.g. dbSNP, ClinVar, ClinGen, COSMIC), as `externalReferences` with CURIE(s). [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                      rdfs:label "Variant Alternative ID"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/VariantLevelData
:VariantLevelData rdf:type owl:Class ;
                  rdfs:comment "Reports about the variation instances observed in the genomic variation."@en ;
                  rdfs:label "Variant Level Data"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/VariantQuality
:VariantQuality rdf:type owl:Class ;
                rdfs:comment "Quality information about the genomic variation."@en ;
                rdfs:label "Variant Quality"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/Zygosity
:Zygosity rdf:type owl:Class ;
          <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1710709> ;
          rdfs:comment "SKOS concept hierarchy comprising zygosity in which variant is present in the sample from the Zygosity Ontology (GENO:0000391) , e.g `heterozygous` (GENO:0000135) [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
          rdfs:isDefinedBy <http://purl.obolibrary.org/obo/NCIT_C45824> ;
          rdfs:label "Zygosity"@en .


#################################################################
#    Individuals
#################################################################

###  http://purl.bioontology.org/ontology/SNOMEDCT/1144987003
<http://purl.bioontology.org/ontology/SNOMEDCT/1144987003> rdf:type owl:NamedIndividual ,
                                                                    <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                    bto:DiseaseDisorderOrFinding ;
                                                           <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C61443> ;
                                                           <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                           <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C5546135" ;
                                                           rdfs:comment "The absence of menses in a woman who has achieved reproductive age due to disorder of pituitary gland. [Partial Defintion Source: NCI"@en ;
                                                           rdfs:label "Amenorrhea due to Pituitary Dysfunction"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/14045001
<http://purl.bioontology.org/ontology/SNOMEDCT/14045001> rdf:type owl:NamedIndividual ,
                                                                  <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                  bto:Group ;
                                                         <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.bioontology.org/ontology/SNOMEDCT/372148003> ;
                                                         <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/groupTaxonomy> ;
                                                         <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0043157" ;
                                                         rdfs:comment "A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) [Definition Source: NCI]"@en ;
                                                         rdfs:label "Caucasian"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/183005
<http://purl.bioontology.org/ontology/SNOMEDCT/183005> rdf:type owl:NamedIndividual ,
                                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                bto:DiseaseDisorderOrFinding ;
                                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C34889> ;
                                                       <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                       <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0271893" ;
                                                       rdfs:comment "The autoimmune inability of the bone marrow to produce hematopoietic elements. [Definition Source: NCI]"@en ;
                                                       rdfs:label "Autoimmune Pancytopenia"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/193093009
<http://purl.bioontology.org/ontology/SNOMEDCT/193093009> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:DiseaseDisorderOrFinding ;
                                                          <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C26769> ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0376175" ;
                                                          rdfs:comment "A syndrome characterized by the acute onset of unilateral FACIAL PARALYSIS which progresses over a 2-5 day period. Weakness of the orbicularis oculi muscle and resulting incomplete eye closure may be associated with corneal injury. Pain behind the ear often precedes the onset of paralysis. This condition may be associated with HERPESVIRUS 1, HUMAN infection of the facial nerve. (Adams et al., Principles of Neurology, 6th ed, p1376) [Defintion Source: MSH]"@en ;
                                                          rdfs:label "Bell's Palsy"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/23344004
<http://purl.bioontology.org/ontology/SNOMEDCT/23344004> rdf:type owl:NamedIndividual ,
                                                                  <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                  bto:DiseaseDisorderOrFinding ;
                                                         <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C34685> ;
                                                         <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                         <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0401119" ;
                                                         rdfs:comment "Lumbar Hernia [Definition Source: SNOMEDCT]"@en ;
                                                         rdfs:label "Lumbar Hernia"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/233935004
<http://purl.bioontology.org/ontology/SNOMEDCT/233935004> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:DiseaseDisorderOrFinding ;
                                                          <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C28195> ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0524702" ;
                                                          rdfs:comment "Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. [PMID:29770793]"@en ;
                                                          rdfs:label "Pulmonary Thromboembolism"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/24079001
<http://purl.bioontology.org/ontology/SNOMEDCT/24079001> rdf:type owl:NamedIndividual ,
                                                                  <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                  bto:DiseaseDisorderOrFinding ;
                                                         <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3001> ;
                                                         <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                         <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0011615" ;
                                                         rdfs:comment "A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. [Definition Source: MSH]"@en ;
                                                         rdfs:label "Atopic Dermatitis"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/303011007
<http://purl.bioontology.org/ontology/SNOMEDCT/303011007> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:DiseaseDisorderOrFinding ;
                                                          <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0027947" ;
                                                          rdfs:comment "A decrease in the number of NEUTROPHILS found in the blood. [Definition Source: MSH]"@en ;
                                                          rdfs:label "Neutropenic Disorder"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/315240009
<http://purl.bioontology.org/ontology/SNOMEDCT/315240009> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:Group ;
                                                          <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.bioontology.org/ontology/SNOMEDCT/372148003> ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/groupTaxonomy> ;
                                                          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0005680" ;
                                                          rdfs:comment "A person having origins in the original peoples of sub-Saharan Africa or the Caribbean."@en ;
                                                          rdfs:label "Black (ethnic group)"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/315280000
<http://purl.bioontology.org/ontology/SNOMEDCT/315280000> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:Group ;
                                                          <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.bioontology.org/ontology/SNOMEDCT/372148003> ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/groupTaxonomy> ;
                                                          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1282531" ;
                                                          rdfs:comment "A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) [Definition Source: NCI]"@en ;
                                                          rdfs:label "Asian (ethnic group)"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/372148003
<http://purl.bioontology.org/ontology/SNOMEDCT/372148003> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:Group ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/groupTaxonomy> ;
                                                          rdfs:comment "A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. [Definition Source: CSP]"@en ;
                                                          rdfs:label "Ethnic Group"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/37340000
<http://purl.bioontology.org/ontology/SNOMEDCT/37340000> rdf:type owl:NamedIndividual ,
                                                                  <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                  bto:DiseaseDisorderOrFinding ;
                                                         <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C4802> ;
                                                         <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                         <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0085084" ;
                                                         rdfs:comment "Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089) [Definition Source: MSH]"@en ;
                                                         rdfs:label "Motor Neuron Disease"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/389145006
<http://purl.bioontology.org/ontology/SNOMEDCT/389145006> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:DiseaseDisorderOrFinding ;
                                                          <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C28397> ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0155877" ;
                                                          rdfs:comment "Allergic Asthma"@en ;
                                                          rdfs:label "Allergic Asthma"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/414408004
<http://purl.bioontology.org/ontology/SNOMEDCT/414408004> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:Group ;
                                                          <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.bioontology.org/ontology/SNOMEDCT/372148003> ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/groupTaxonomy> ;
                                                          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0086409" ;
                                                          rdfs:comment "A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, \"Spanish origin\" can be used in addition to \"Hispanic or Latino\". (OMB) [Definition Source: NCI]"@en ;
                                                          rdfs:label "Hispanic"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/447139008
<http://purl.bioontology.org/ontology/SNOMEDCT/447139008> rdf:type owl:NamedIndividual ,
                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                   bto:DiseaseDisorderOrFinding ;
                                                          <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C99083> ;
                                                          <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                          <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0159870" ;
                                                          rdfs:comment "A closed fracture of the tibia."@en ;
                                                          rdfs:label "Closed Fracture of Tibia"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/882784691000119100
<http://purl.bioontology.org/ontology/SNOMEDCT/882784691000119100> rdf:type owl:NamedIndividual ,
                                                                            <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                            bto:DiseaseDisorderOrFinding ;
                                                                   <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3333> ;
                                                                   <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                                   <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C5244027" ;
                                                                   rdfs:comment "Pneumonia caused by severe acute respiratory syndrome coronavirus 2 [Definition Source: SNOMEDCT]"@en ;
                                                                   rdfs:label "Pneumonia Caused By SARS-CoV-2"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/90460009
<http://purl.bioontology.org/ontology/SNOMEDCT/90460009> rdf:type owl:NamedIndividual ,
                                                                  <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                  bto:DiseaseDisorderOrFinding ;
                                                         <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C36282> ;
                                                         <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                         <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0027531" ;
                                                         rdfs:comment "General or unspecified injuries to the neck. It includes injuries to the skin, muscles, and other soft tissues of the neck. [Defintion Source: MSH]"@en ;
                                                         rdfs:label "Neck Trauma"@en .


###  http://purl.bioontology.org/ontology/SNOMEDCT/9389005
<http://purl.bioontology.org/ontology/SNOMEDCT/9389005> rdf:type owl:NamedIndividual ,
                                                                 <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                 bto:DiseaseDisorderOrFinding ;
                                                        <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C155871> ,
                                                                                                                <http://purl.obolibrary.org/obo/NCIT_C26805> ;
                                                        <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                                        <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019357" ;
                                                        rdfs:comment "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (KERATITIS, DENDRITIC). (Dictionary of Visual Science, 3d ed) [Defintion Source: MSH]"@en ;
                                                        rdfs:label "Herpes Simplex Keratitis"@en .


###  http://purl.obolibrary.org/obo/BFO_0000040
<http://purl.obolibrary.org/obo/BFO_0000040> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :SampleOriginType ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :sampleOriginTypeTaxonomy ;
                                             rdfs:comment "A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray. [Definition Source: BFO]"@en ;
                                             rdfs:label "Material Entity"@en .


###  http://purl.obolibrary.org/obo/ECO_0000006
<http://purl.obolibrary.org/obo/ECO_0000006> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :PhenoClinicEvidence ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :phenoclinicEvidenceTaxonomy ;
                                             rdfs:comment "A type of evidence that is the output of a scientific procedure performed to make a discovery, test a hypothesis, or demonstrate a known fact. [Definition Source: Evidence and Conclusion Ontology]"@en ;
                                             rdfs:label "Experimental Evidence"@en .


###  http://purl.obolibrary.org/obo/ECO_0000361
<http://purl.obolibrary.org/obo/ECO_0000361> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :PhenoClinicEvidence ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :phenoclinicEvidenceTaxonomy ;
                                             rdfs:comment "A type of evidence where an assertion is derived from another assertion via logical inference or some non-logical but rational means. [Definition Source: Evidence and Conclusion Ontology]"@en ;
                                             rdfs:label "Inferential Evidence"@en .


###  http://purl.obolibrary.org/obo/GENEPIO_0001965
<http://purl.obolibrary.org/obo/GENEPIO_0001965> rdf:type owl:NamedIndividual ,
                                                          <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                          :LibrarySource ;
                                                 <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                                                 <http://www.w3.org/2004/02/skos/core#inScheme> :librarySourceTaxonomy ;
                                                 rdfs:comment "The library source specifies the type of source material that is being sequenced. [Definition Source: GENEPIO]"@en ;
                                                 rdfs:label "Library Source"@en .


###  http://purl.obolibrary.org/obo/GENEPIO_0001966
<http://purl.obolibrary.org/obo/GENEPIO_0001966> rdf:type owl:NamedIndividual ,
                                                          <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                          :LibrarySource ;
                                                 <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                                                 <http://www.w3.org/2004/02/skos/core#inScheme> :librarySourceTaxonomy ;
                                                 rdfs:comment "Genomic DNA (includes PCR products from genomic DNA). [Definition Source: Genomic Epidemiology Ontology (GenEpiO)]"@en ;
                                                 rdfs:label "Genomic Source"@en .


###  http://purl.obolibrary.org/obo/GENEPIO_0001967
<http://purl.obolibrary.org/obo/GENEPIO_0001967> rdf:type owl:NamedIndividual ,
                                                          <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                          :LibrarySource ;
                                                 <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                                                 <http://www.w3.org/2004/02/skos/core#inScheme> :librarySourceTaxonomy ;
                                                 rdfs:comment "Mixed material from metagenome. [Definition Source: Genomic Epidemiology Ontology (GenEpiO)]"@en ;
                                                 rdfs:label "Metagenomic Source"@en .


###  http://purl.obolibrary.org/obo/GENEPIO_0001968
<http://purl.obolibrary.org/obo/GENEPIO_0001968> rdf:type owl:NamedIndividual ,
                                                          <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                          :LibrarySource ;
                                                 <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                                                 <http://www.w3.org/2004/02/skos/core#inScheme> :librarySourceTaxonomy ;
                                                 rdfs:comment "Transcription products from community targets. [Definition Source: Genomic Epidemiology Ontology (GenEpiO)]"@en ;
                                                 rdfs:label "Metatranscriptomic Source"@en .


###  http://purl.obolibrary.org/obo/GENEPIO_0001969
<http://purl.obolibrary.org/obo/GENEPIO_0001969> rdf:type owl:NamedIndividual ,
                                                          <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                          :LibrarySource ;
                                                 <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                                                 <http://www.w3.org/2004/02/skos/core#inScheme> :librarySourceTaxonomy ;
                                                 rdfs:comment "Other, unspecified, or unknown library source material. [Definition Source: Genomic Epidemiology Ontology (GenEpiO)]"@en ;
                                                 rdfs:label "Other Library Source"@en .


###  http://purl.obolibrary.org/obo/GENEPIO_0001970
<http://purl.obolibrary.org/obo/GENEPIO_0001970> rdf:type owl:NamedIndividual ,
                                                          <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                          :LibrarySource ;
                                                 <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                                                 <http://www.w3.org/2004/02/skos/core#inScheme> :librarySourceTaxonomy ;
                                                 rdfs:comment "Synthetic DNA. [Definition Source: Genomic Epidemiology Ontology (GenEpiO)]"@en ;
                                                 rdfs:label "Synthetic Source"@en .


###  http://purl.obolibrary.org/obo/GENEPIO_0001971
<http://purl.obolibrary.org/obo/GENEPIO_0001971> rdf:type owl:NamedIndividual ,
                                                          <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                          :LibrarySource ;
                                                 <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                                                 <http://www.w3.org/2004/02/skos/core#inScheme> :librarySourceTaxonomy ;
                                                 rdfs:comment "Transcription products or non genomic DNA (EST, cDNA, RT-PCR, screened libraries). [Definition Source: Genomic Epidemiology Ontology (GenEpiO)]"@en ;
                                                 rdfs:label "Transcriptomic Source"@en .


###  http://purl.obolibrary.org/obo/GENEPIO_0001972
<http://purl.obolibrary.org/obo/GENEPIO_0001972> rdf:type owl:NamedIndividual ,
                                                          <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                          :LibrarySource ;
                                                 <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                                                 <http://www.w3.org/2004/02/skos/core#inScheme> :librarySourceTaxonomy ;
                                                 rdfs:comment "Viral RNA. [Definition Source: Genomic Epidemiology Ontology (GenEpiO)]"@en ;
                                                 rdfs:label "Viral RNA Source"@en .


###  http://purl.obolibrary.org/obo/GENO_0000133
<http://purl.obolibrary.org/obo/GENO_0000133> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:comment "An allelic state that describes the degree of similarity between features in a 'single locus complement', within the genome of a cell or organism (i.e., whether the alleles or haplotypes that reside at the same location on paired chromosomes are the same or different). [Definition Source: GENO]"@en ;
                                              rdfs:label "Zygosity"@en .


###  http://purl.obolibrary.org/obo/GENO_0000134
<http://purl.obolibrary.org/obo/GENO_0000134> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000133> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:comment "A zygosity quality inhering in a 'single locus complement' with half the number of alleles than normal (e.g. a single allele in a diploid genome, for example, a locus on the Y chromosome in a eukaryotic male genome, or a transgene that is present only in one of the two parental chromosome sets) [Definition Source: GENO Ontology]"@en ;
                                              rdfs:label "Hemizygous"@en .


###  http://purl.obolibrary.org/obo/GENO_0000136
<http://purl.obolibrary.org/obo/GENO_0000136> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000133> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:comment "A zygosity quality inhering in a 'single locus complement' where all copies of the feature at this location have the same sequence (in a eukaryotic diploid genome, this means having identical alleles on each of the two homologous chromosomes, one inherited from each parent). [Definition Source: GENO Ontology]"@en ;
                                              rdfs:label "Homozygous"@en .


###  http://purl.obolibrary.org/obo/GENO_0000391
<http://purl.obolibrary.org/obo/GENO_0000391> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000133> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:comment "A zygosity quality inhering in 'single locus complement'; where the copies of the feature at this location have at least one difference in sequence  (in a eukaryotic diploid genome, this means having two distinct alleles on each of the two homologous chromosomes, one inherited from each parent). [Definition Source: GENO Ontology]"@en ;
                                              rdfs:label "Heterozygous"@en .


###  http://purl.obolibrary.org/obo/GENO_0000402
<http://purl.obolibrary.org/obo/GENO_0000402> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000391> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:comment "A heterozygous quality inhering in a single locus complement comprised of two different varaint alleles and no wild type locus. (e.g.fgf8a<ti282a>/fgf8a<x15>) [Definition Source: GENO Ontology]"@en ;
                                              rdfs:label "Compouns Heterozygous"@en .


###  http://purl.obolibrary.org/obo/GENO_0000458
<http://purl.obolibrary.org/obo/GENO_0000458> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000391> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:comment "a heterozygous quality inhering in a single locus complement comprised of one variant allele and one wild-type/reference allele (e.g.fgf8a<ti282a/+>) [Definition Source: GENO Ontology]"@en ;
                                              rdfs:label "Simple Heterozygous"@en .


###  http://purl.obolibrary.org/obo/GENO_0000604
<http://purl.obolibrary.org/obo/GENO_0000604> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000134> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:label "Hemizygous X-Linked"@en .


###  http://purl.obolibrary.org/obo/GENO_0000605
<http://purl.obolibrary.org/obo/GENO_0000605> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000134> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:label "Hemizygous Y-Linked"@en .


###  http://purl.obolibrary.org/obo/GENO_0000606
<http://purl.obolibrary.org/obo/GENO_0000606> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000134> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:label "Hemizygous Insertion-Linked"@en .


###  http://purl.obolibrary.org/obo/GENO_0000978
<http://purl.obolibrary.org/obo/GENO_0000978> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       :Zygosity ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000133> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> :zigosityTaxonomy ;
                                              rdfs:comment "A disomic zygosity quality inhering in a 'single locus complement' that is comprised of two non-functional copies of a gene. Loss of function may result from the gene being entirely missing via a deletion, or mutated in a way that eliminates its function. [Definition Source: GENO Ontology]"@en ;
                                              rdfs:label "Nullizygous"@en .


###  http://purl.obolibrary.org/obo/MONDO_0000001
<http://purl.obolibrary.org/obo/MONDO_0000001> rdf:type owl:NamedIndividual ,
                                                        <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                        :PhenoClinicCategory ;
                                               <http://www.w3.org/2004/02/skos/core#inScheme> :phenoClinicCategoryTaxonomy ;
                                               rdfs:comment "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. [Definition Source: MONDO Ontology]"@en ;
                                               rdfs:label "Disease or Disorder (MONDO)"@en .


###  http://purl.obolibrary.org/obo/NCIT_C100023
<http://purl.obolibrary.org/obo/NCIT_C100023> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2931> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0581375" ;
                                              rdfs:comment "There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in two coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery). (ACC) [Definition Source: NCI]"@en ;
                                              rdfs:label "Two Vessel Coronary Disease"@en .


###  http://purl.obolibrary.org/obo/NCIT_C100104
<http://purl.obolibrary.org/obo/NCIT_C100104> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0037088" ;
                                              rdfs:comment "Objective evidence of disease perceptible to the examining practitioner (sign) and subjective evidence of disease perceived by the patient (symptom). [Definition Source: NCI]"@en ;
                                              rdfs:label "Sign or Symptom"@en .


###  http://purl.obolibrary.org/obo/NCIT_C101214
<http://purl.obolibrary.org/obo/NCIT_C101214> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C27586> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0080178" ;
                                              rdfs:comment "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. [Definition Source: NCI]"@en ;
                                              rdfs:label "Spina Bifida"@en .


###  http://purl.obolibrary.org/obo/NCIT_C112175
<http://purl.obolibrary.org/obo/NCIT_C112175> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0002994" ;
                                              rdfs:comment "Rapid swelling of the deep layers of the skin due to transient vascular leakage of serous fluid. [Definition Source: NCI][attribution: NICHD]"@en ;
                                              rdfs:label "Angioedema"@en .


###  http://purl.obolibrary.org/obo/NCIT_C112183
<http://purl.obolibrary.org/obo/NCIT_C112183> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0005741" ;
                                              rdfs:comment "Inflammation of the eyelids near the eyelashes. [Definition Source: NCI][attribution: NICHD]"@en ;
                                              rdfs:label "Blepharitits"@en .


###  http://purl.obolibrary.org/obo/NCIT_C112208
<http://purl.obolibrary.org/obo/NCIT_C112208> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C3541994" ;
                                              rdfs:comment "A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. [Definition Source: NCI][attribution: NICHD]"@en ;
                                              rdfs:label "Drug Hypersensitivity Syndrome"@en .


###  http://purl.obolibrary.org/obo/NCIT_C112357
<http://purl.obolibrary.org/obo/NCIT_C112357> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0026394" ;
                                              rdfs:comment "A species of enveloped and brick-shaped viruses in the Poxviridae family and Molluscipoxvirus genus. The genome is composed of non-segmented, linear double-stranded DNA. Molluscum contagiosum viruses are found in humans and can cause the disease Molluscum contagiosum. Molluscum contagiosum viruses are transmitted via direct person-to-person contact and contact with infected fomites. [Definition Source: NCI]"@en ;
                                              rdfs:label "Molluscum Contagiosum Virus"@en .


###  http://purl.obolibrary.org/obo/NCIT_C112833
<http://purl.obolibrary.org/obo/NCIT_C112833> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0040262" ;
                                              rdfs:comment "A skin condition characterized by hypopigmented, pink or tan, confetti-like, discrete and confluent scaly macules distributed on the chest, shoulders and upper back. [Definition Source: NCI]"@en ;
                                              rdfs:label "Tinea Versicolor"@en .


###  http://purl.obolibrary.org/obo/NCIT_C115958
<http://purl.obolibrary.org/obo/NCIT_C115958> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0521618" ;
                                              rdfs:comment "Narrowing of the luminal diameter of one or both ureters due to intrinsic factors. [Definition Source: NCI]"@en ;
                                              rdfs:label "Ureteral Stenosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C116369
<http://purl.obolibrary.org/obo/NCIT_C116369> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0003126" ;
                                              rdfs:comment "Inability to smell. [Definition Source: NCI]"@en ;
                                              rdfs:label "Anosmia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C116585
<http://purl.obolibrary.org/obo/NCIT_C116585> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0018946" ;
                                              rdfs:comment "A collection of blood between the dura mater and the brain. [Definition Source: NCI]"@en ;
                                              rdfs:label "Subdural Hematoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C116921
<http://purl.obolibrary.org/obo/NCIT_C116921> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0338656" ;
                                              rdfs:comment "Diminished mental function. [Definition Source: NCI]"@en ;
                                              rdfs:label "Cognitive Impariment"@en .


###  http://purl.obolibrary.org/obo/NCIT_C117005
<http://purl.obolibrary.org/obo/NCIT_C117005> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C89715> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0154723" ;
                                              rdfs:comment "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. [Definition Source: NCI]"@en ;
                                              rdfs:label "Migraine With Aura"@en .


###  http://purl.obolibrary.org/obo/NCIT_C117084
<http://purl.obolibrary.org/obo/NCIT_C117084> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C4876> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0032768" ;
                                              rdfs:comment "Pain that occurs after the disappearance of herpes zoster infection lesions. [Definition Source: NCI]"@en ;
                                              rdfs:label "Post-Herpetic Neuralgia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C118723
<http://purl.obolibrary.org/obo/NCIT_C118723> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C36282> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0005747" ;
                                              rdfs:comment "Involuntary twitching of the eyelid. [Definition Source: NCI]"@en ;
                                              rdfs:label "Blepharospasm"@en .


###  http://purl.obolibrary.org/obo/NCIT_C122419
<http://purl.obolibrary.org/obo/NCIT_C122419> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0259797" ;
                                              rdfs:comment "A wound received from the teeth of a dog. [Definition Source: NCI]"@en ;
                                              rdfs:label "Dog Bite"@en .


###  http://purl.obolibrary.org/obo/NCIT_C123215
<http://purl.obolibrary.org/obo/NCIT_C123215> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0520575" ;
                                              rdfs:comment "Sudden onset pyelonephritis. [Definition Source: NCI][attribution: NICHD]"@en ;
                                              rdfs:label "Acute Pyelonephritis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C128405
<http://purl.obolibrary.org/obo/NCIT_C128405> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0276139" ;
                                              rdfs:comment "Pericarditis that is caused by an infection with a viral agent. [Definition Source: NCI]"@en ;
                                              rdfs:label "Viral Pericarditis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C129644
<http://purl.obolibrary.org/obo/NCIT_C129644> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C26800> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0700502" ;
                                              rdfs:comment "Hypothyroidism, the cause of which is not present at birth. [Definition Source: NCI]"@en ;
                                              rdfs:label "Acquired Hypothyroidism"@en .


###  http://purl.obolibrary.org/obo/NCIT_C155871
<http://purl.obolibrary.org/obo/NCIT_C155871> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019348" ;
                                              rdfs:comment "An infection that is caused by herpes simplex virus. [Definition Source: NCI]"@en ;
                                              rdfs:label "Herpes Simplex Virus Infection"@en .


###  http://purl.obolibrary.org/obo/NCIT_C156767
<http://purl.obolibrary.org/obo/NCIT_C156767> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2916> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007117" ;
                                              rdfs:comment "A carcinoma involving the basal cells. [Definition Source: NCI]"@en ;
                                              rdfs:label "Basal Cell Carcinoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C157942
<http://purl.obolibrary.org/obo/NCIT_C157942> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C4324621" ;
                                              rdfs:comment "The use of opioids that results in the development of a dependency that adversely affects an individual's life. [Definition Source: NCI]"@en ;
                                              rdfs:label "Opioid Use Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C157959
<http://purl.obolibrary.org/obo/NCIT_C157959> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3333> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0155862" ;
                                              rdfs:comment "Pneumonia that is attributed to the bacteria Streptococcus pneumonia. [Definition Source: NCI]"@en ;
                                              rdfs:label "Pneumococcal Pneumonia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C16576
<http://purl.obolibrary.org/obo/NCIT_C16576> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :CohortSex ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :cohortSexTaxonomy ;
                                             rdfs:comment "A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. [Definition Source: NCI]"@en ;
                                             rdfs:label "Female"@en .


###  http://purl.obolibrary.org/obo/NCIT_C171133
<http://purl.obolibrary.org/obo/NCIT_C171133> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C5203670" ;
                                              rdfs:comment "An acute infection of the respiratory tract that is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Based on currently available information, SARS-CoV-2 is thought to mainly spread from person to person through respiratory droplets. Typically, there is a two- to 14-day incubation period and infected persons can present with no symptoms or mild to severe fever, dry cough, fatigue, and difficulty breathing. Dysgeusia, anosmia, and gastrointestinal and flu-like symptoms have also been reported. Older adults and persons of any age who have serious underlying medical conditions may be of higher risk for severe illness, including secondary infections, respiratory failure, and multi-organ dysfunction. [Definition Source: NCI]"@en ;
                                              rdfs:label "COVID-19 Infection"@en .


###  http://purl.obolibrary.org/obo/NCIT_C171204
<http://purl.obolibrary.org/obo/NCIT_C171204> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0039980" ;
                                              rdfs:comment "Trauma to the chest. [Definition Source: NCI]"@en ;
                                              rdfs:label "Thoracic Trauma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C17998
<http://purl.obolibrary.org/obo/NCIT_C17998> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :CohortSex ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :cohortSexTaxonomy ;
                                             rdfs:comment "Not known, observed, recorded; or reported as unknown by the data contributor. [Defintion Source: NCI]"@en ;
                                             rdfs:label "Unknown"@en .


###  http://purl.obolibrary.org/obo/NCIT_C185645
<http://purl.obolibrary.org/obo/NCIT_C185645> rdf:type owl:NamedIndividual ,
                                                       <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                       bto:DiseaseDisorderOrFinding ;
                                              <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                              <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                              <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0235378" ;
                                              rdfs:comment "Toxicity that impairs or damages the liver. [Definition Source: NCI]"@en ;
                                              rdfs:label "Hepatic Toxicity"@en .


###  http://purl.obolibrary.org/obo/NCIT_C20197
<http://purl.obolibrary.org/obo/NCIT_C20197> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :CohortSex ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :cohortSexTaxonomy ;
                                             rdfs:comment "A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. [Definition Source: NCI]"@en ;
                                             rdfs:label "Male"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26682
<http://purl.obolibrary.org/obo/NCIT_C26682> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C4876> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0000737" ;
                                             rdfs:comment "Painful sensation in the abdominal region. [Definition Source: NCI]"@en ;
                                             rdfs:label "Abdominal Pain"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26704
<http://purl.obolibrary.org/obo/NCIT_C26704> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3333> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0004626" ;
                                             rdfs:comment "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. [Definition Source: NCI]"@en ;
                                             rdfs:label "Bacterial Pneumonia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26714
<http://purl.obolibrary.org/obo/NCIT_C26714> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007570" ;
                                             rdfs:comment "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. [Definition Source: NCI]"@en ;
                                             rdfs:label "Celiac Disease"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26747
<http://purl.obolibrary.org/obo/NCIT_C26747> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2985> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0011860" ;
                                             rdfs:comment "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. [Definition Source: NCI]"@en ;
                                             rdfs:label "Type 2 Diabetes Mellitus"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26769
<http://purl.obolibrary.org/obo/NCIT_C26769> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0015469" ;
                                             rdfs:comment "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. [Definition Source: NCI]"@en ;
                                             rdfs:label "Cranial Nerve VII Palsy"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26774
<http://purl.obolibrary.org/obo/NCIT_C26774> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0015802" ;
                                             rdfs:comment "A traumatic or pathologic injury to the femur in which the continuity of the femur is broken. [Definition Source: NCI]"@en ;
                                             rdfs:label "Femur Fracture"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26780
<http://purl.obolibrary.org/obo/NCIT_C26780> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0017152" ;
                                             rdfs:comment "Inflammation of the stomach. [Definition Source: NCI]"@en ;
                                             rdfs:label "Gastritis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26782
<http://purl.obolibrary.org/obo/NCIT_C26782> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0017601" ;
                                             rdfs:comment "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. [Definition Source: NCI]"@en ;
                                             rdfs:label "Glaucoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26800
<http://purl.obolibrary.org/obo/NCIT_C26800> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C26893> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0020676" ;
                                             rdfs:comment "Abnormally low levels of thyroid hormone. [Definition Source: NCI][attribution: NICHD]"@en ;
                                             rdfs:label "Hypothyroidism"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26805
<http://purl.obolibrary.org/obo/NCIT_C26805> rdf:type owl:NamedIndividual ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0022568" ;
                                             rdfs:comment "Inflammation of the cornea. [Definition Source: NCI]"@en ;
                                             rdfs:label "Keratitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26806
<http://purl.obolibrary.org/obo/NCIT_C26806> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0022578" ;
                                             rdfs:comment "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. [Definition Source: NCI]"@en ;
                                             rdfs:label "Keratoconus"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26816
<http://purl.obolibrary.org/obo/NCIT_C26816> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0750394" ;
                                             rdfs:comment "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. [Definition Source: NCI]"@en ;
                                             rdfs:label "Leukopenia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26823
<http://purl.obolibrary.org/obo/NCIT_C26823> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C26816> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0853986" ;
                                             rdfs:comment "An abnormally small number of lymphocytes in the circulating blood. [Definition Source: NCI]"@en ;
                                             rdfs:label "Lymphopenia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26845
<http://purl.obolibrary.org/obo/NCIT_C26845> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C79593> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0030567" ;
                                             rdfs:comment "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. [Definition Source: NCI]"@en ;
                                             rdfs:label "Parkinson's Disease"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26874
<http://purl.obolibrary.org/obo/NCIT_C26874> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0035305" ;
                                             rdfs:comment "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. [Definition Source: NCI]"@en ;
                                             rdfs:label "Retinal Detachment"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26893
<http://purl.obolibrary.org/obo/NCIT_C26893> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0040128" ;
                                             rdfs:comment "A non-neoplastic or neoplastic disorder that affects the thyroid gland. Representative examples include hyperthyroidism, hypothyroidism, thyroiditis, follicular adenoma, and carcinoma. [Definition Source: NCI]"@en ;
                                             rdfs:label "Thyroid Gland Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26894
<http://purl.obolibrary.org/obo/NCIT_C26894> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C26893> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0040147" ;
                                             rdfs:comment "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. [Definition Source: NCI]"@en ;
                                             rdfs:label "Thyroiditis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26915
<http://purl.obolibrary.org/obo/NCIT_C26915> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0042900" ;
                                             rdfs:comment "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. [Definition Source: NCI][attribution: NICHD]"@en ;
                                             rdfs:label "Vitiligo"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26921
<http://purl.obolibrary.org/obo/NCIT_C26921> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C4876> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0085594" ;
                                             rdfs:comment "Shivering secondary to a febrile process. [Definition Source: NCI]"@en ;
                                             rdfs:label "Fever Chills"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26934
<http://purl.obolibrary.org/obo/NCIT_C26934> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0149523" ;
                                             rdfs:comment "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain. [Definition Source: NCI]"@en ;
                                             rdfs:label "Acute Cystitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26948
<http://purl.obolibrary.org/obo/NCIT_C26948> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0151905" ;
                                             rdfs:comment "An increase in the level of alanine aminotransferase in the blood. [Definition Source: NCI]"@en ;
                                             rdfs:label "Alanine Aminotransferase Increased"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26952
<http://purl.obolibrary.org/obo/NCIT_C26952> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0152177" ;
                                             rdfs:comment "A non-neoplastic or neoplastic disorder affecting the trigeminal nerve (fifth cranial nerve). [Definition Source: NCI]"@en ;
                                             rdfs:label "Trigeminal Nerve Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C26989
<http://purl.obolibrary.org/obo/NCIT_C26989> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0159877" ;
                                             rdfs:comment "Traumatic or pathological injury to the ankle joint in which the continuity of an ankle bone is broken. Symptoms include pain, swelling, and difficulty moving the affected leg and foot. [Definition Source: NCI]"@en ;
                                             rdfs:label "Ankle Fracture"@en .


###  http://purl.obolibrary.org/obo/NCIT_C27006
<http://purl.obolibrary.org/obo/NCIT_C27006> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3333> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0206061" ;
                                             rdfs:comment "Inflammation of interstitial lung tissue, usually associated with infection. [Definition Source: NCI]"@en ;
                                             rdfs:label "Interstitial Pneumonia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C27043
<http://purl.obolibrary.org/obo/NCIT_C27043> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0264490" ;
                                             rdfs:comment "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. [Definition Source: NCI]"@en ;
                                             rdfs:label "Acute Respiratory Failure"@en .


###  http://purl.obolibrary.org/obo/NCIT_C27168
<http://purl.obolibrary.org/obo/NCIT_C27168> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0520679" ;
                                             rdfs:comment "A disorder characterized by recurrent episodic disruptions of breathing during sleep. It is caused by the intermittent relaxation of pharyngeal muscles leading to the narrowing or complete blockage of the upper airway. This results in compensatory arousal from sleep to breathe again. An anatomically narrow airway from body habitus or enlarged pharyngeal structures may also predispose to obstruction. Clinical presentation usually includes snoring, daytime sleepiness, difficulty concentrating and fatigue. Clinical course may progress to chronic hypoxemia with cardiovascular and cerebrovascular sequelae. [Definition Source: NCI]"@en ;
                                             rdfs:label "Obstructive Sleep Apnea Syndrome"@en .


###  http://purl.obolibrary.org/obo/NCIT_C27191
<http://purl.obolibrary.org/obo/NCIT_C27191> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C26894> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0677607" ;
                                             rdfs:comment "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. [Definition Source: NCI]"@en ;
                                             rdfs:label "Hashimoto Thyroiditis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C27586
<http://purl.obolibrary.org/obo/NCIT_C27586> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1335000" ;
                                             rdfs:comment "Any disorder other than abnormal tissue growth resulting from uncontrolled cell proliferation affecting the nervous system."@en ;
                                             rdfs:label "Non-Neoplastic Central Nervous System Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C28076
<http://purl.obolibrary.org/obo/NCIT_C28076> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :TumorGrade ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :tumorGradeTaxonomy ;
                                             rdfs:comment "A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. [Definition Source: NCI]"@en ;
                                             rdfs:label "Disease Grade Qualifier"@en .


###  http://purl.obolibrary.org/obo/NCIT_C28108
<http://purl.obolibrary.org/obo/NCIT_C28108> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :PathologicalStage ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :pathologicalStageTaxonomy ;
                                             <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1511987> ;
                                             rdfs:comment "An adjectival term that can specify or describe a disease stage. [Definition Source: NCIT]"@en ;
                                             rdfs:label "Disease Stage Qualifier"@en .


###  http://purl.obolibrary.org/obo/NCIT_C28195
<http://purl.obolibrary.org/obo/NCIT_C28195> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2931> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0040038" ;
                                             rdfs:comment "Occlusion of the lumen of a vessel by a thrombus that has migrated from a distal site via the blood stream. [Definition Source: NCI]"@en ;
                                             rdfs:label "Thromboembolism"@en .


###  http://purl.obolibrary.org/obo/NCIT_C28397
<http://purl.obolibrary.org/obo/NCIT_C28397> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C98541> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0004096" ;
                                             rdfs:comment "A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways. [Definition Source: NCI]"@en ;
                                             rdfs:label "Asthma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2852
<http://purl.obolibrary.org/obo/NCIT_C2852> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2916> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0001418" ;
                                            rdfs:comment "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. [Definition Source: NCI]"@en ;
                                            rdfs:label "Adenocarcinoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2866
<http://purl.obolibrary.org/obo/NCIT_C2866> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C4786> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0002395" ;
                                            rdfs:comment "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. [Definition Source: NCI]"@en ;
                                            rdfs:label "Alzheimer's Disease"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2869
<http://purl.obolibrary.org/obo/NCIT_C2869> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0002871" ;
                                            rdfs:comment "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. [Definition Source: NCI]"@en ;
                                            rdfs:label "Anemia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2875
<http://purl.obolibrary.org/obo/NCIT_C2875> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            rdfs:comment "Loss of appetite. [Definition Source: NCI]"@en ,
                                                         "https://uts.nlm.nih.gov/uts/umls/concept/C1971624" ;
                                            rdfs:label "Anorexia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2878
<http://purl.obolibrary.org/obo/NCIT_C2878> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2893> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0003469" ;
                                            rdfs:comment "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. [Definition Source: NCI]"@en ;
                                            rdfs:label "Anxiety Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2881
<http://purl.obolibrary.org/obo/NCIT_C2881> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2931> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0003811" ;
                                            rdfs:comment "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. [Definition Source: NCI]"@en ;
                                            rdfs:label "Arrhythmia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2883
<http://purl.obolibrary.org/obo/NCIT_C2883> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0003864" ;
                                            rdfs:comment "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. [Definition Source: NCI]"@en ;
                                            rdfs:label "Arthritis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2884
<http://purl.obolibrary.org/obo/NCIT_C2884> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2883> ,
                                                                                                    <http://purl.obolibrary.org/obo/NCIT_C2889> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0003873" ;
                                            rdfs:comment "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. [Definition Source: NCI]"@en ;
                                            rdfs:label "Rheumatoid Arthritis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2889
<http://purl.obolibrary.org/obo/NCIT_C2889> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0004364" ;
                                            rdfs:comment "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). [Definition Source: NCI]"@en ;
                                            rdfs:label "Autoimmune Disease"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2893
<http://purl.obolibrary.org/obo/NCIT_C2893> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0004936" ;
                                            rdfs:comment "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. [Definition Source: NCI]"@en ;
                                            rdfs:label "Psychiatric Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2914
<http://purl.obolibrary.org/obo/NCIT_C2914> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0006852" ;
                                            rdfs:comment "Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. [Definition Source: NCI]"@en ;
                                            rdfs:label "Vulvovaginal Candidiasis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2916
<http://purl.obolibrary.org/obo/NCIT_C2916> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C9305> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007097" ;
                                            rdfs:comment "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. [Definition Source: NCI]"@en ;
                                            rdfs:label "Carcinoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2920
<http://purl.obolibrary.org/obo/NCIT_C2920> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C9305> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007114" ;
                                            rdfs:comment "A primary or metastatic malignant neoplasm involving the skin. Primary malignant skin neoplasms most often are carcinomas (either basal cell or squamous cell carcinomas) or melanomas. Metastatic malignant neoplasms to the skin include carcinomas and lymphomas. [Definition Source: NCI]"@en ;
                                            rdfs:label "Malignant Skin Neoplasm"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2921
<http://purl.obolibrary.org/obo/NCIT_C2921> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C156767> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007117" ;
                                            rdfs:comment "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. [Definition Source: NCI]"@en ;
                                            rdfs:label "Skin Basal Cell Carcinoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2922
<http://purl.obolibrary.org/obo/NCIT_C2922> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2921> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007118" ;
                                            rdfs:comment "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases. [Definition Source: NCI]"@en ;
                                            rdfs:label "Skin Basosquamous Cell Carcinoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2931
<http://purl.obolibrary.org/obo/NCIT_C2931> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007222" ;
                                            rdfs:comment "A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [Definition Source: NCI]"@en ;
                                            rdfs:label "Cardiovascular Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2978
<http://purl.obolibrary.org/obo/NCIT_C2978> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0010709" ;
                                            rdfs:comment "A sac-like closed membranous structure that may be empty or contain fluid or amorphous material. [Definition Source: NCI]"@en ;
                                            rdfs:label "Cyst"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2982
<http://purl.obolibrary.org/obo/NCIT_C2982> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C92200> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0011570" ;
                                            rdfs:comment "A melancholy feeling of sadness and despair. [Definition Source: NCI]"@en ;
                                            rdfs:label "Depression"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2985
<http://purl.obolibrary.org/obo/NCIT_C2985> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0011849" ;
                                            rdfs:comment "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. [Definition Source: NCI]"@en ;
                                            rdfs:label "Diabetes Mellitus"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2986
<http://purl.obolibrary.org/obo/NCIT_C2986> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2889> ,
                                                                                                    <http://purl.obolibrary.org/obo/NCIT_C2985> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0011854" ;
                                            rdfs:comment "A chronic condition characterized by minimal or absent production of insulin by the pancreas. [Definition Source: NCI][attribution: NICHD]"@en ;
                                            rdfs:label "Type 1 Diabtes Mellitus"@en .


###  http://purl.obolibrary.org/obo/NCIT_C29888
<http://purl.obolibrary.org/obo/NCIT_C29888> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0026780" ;
                                             rdfs:comment "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. [Definition Source: NCI]"@en ;
                                             rdfs:label "Mumps"@en .


###  http://purl.obolibrary.org/obo/NCIT_C2991
<http://purl.obolibrary.org/obo/NCIT_C2991> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0012634" ;
                                            rdfs:comment "Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [Definition Source: NCI]"@en ;
                                            rdfs:label "Disease or Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3001
<http://purl.obolibrary.org/obo/NCIT_C3001> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0013595" ;
                                            rdfs:comment "A form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent. [Definition Source: NCI][attribution: NICHD]"@en ;
                                            rdfs:label "Eczema"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3014
<http://purl.obolibrary.org/obo/NCIT_C3014> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0014175" ;
                                            rdfs:comment "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. [Definition Source: NCI]"@en ;
                                            rdfs:label "Endometriosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3020
<http://purl.obolibrary.org/obo/NCIT_C3020> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0014544" ;
                                            rdfs:comment "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. [Definition Source: NCI]"@en ;
                                            rdfs:label "Seizure Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3021
<http://purl.obolibrary.org/obo/NCIT_C3021> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3020> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0014548" ;
                                            rdfs:comment "A chronic condition characterised by recurrent generalised seizures. [Definition Source: NCI]"@en ;
                                            rdfs:label "Generalized Epilepsy"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3041
<http://purl.obolibrary.org/obo/NCIT_C3041> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0016045" ;
                                            rdfs:comment "A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts. [Definition Source: NCI]"@en ;
                                            rdfs:label "Fibroma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3086
<http://purl.obolibrary.org/obo/NCIT_C3086> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2931> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0018920" ;
                                            rdfs:comment "A hemangioma characterized by the presence of cavernous vascular spaces. [Definition Source: NCI]"@en ;
                                            rdfs:label "Cavernous Hemangioma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3095
<http://purl.obolibrary.org/obo/NCIT_C3095> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019158" ;
                                            rdfs:comment "Inflammation of the liver; usually from a viral infection, but sometimes from toxic agents. [Definition Source: NCI]"@en ;
                                            rdfs:label "Hepatitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3096
<http://purl.obolibrary.org/obo/NCIT_C3096> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019159" ;
                                            rdfs:comment "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. [Definition Source: NCI]"@en ;
                                            rdfs:label "Hepatitis A Infection"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3107
<http://purl.obolibrary.org/obo/NCIT_C3107> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019621" ;
                                            rdfs:comment "A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001) [Definition Source: NCI]"@en ;
                                            rdfs:label "Langerhans Cell Histiocytosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3114
<http://purl.obolibrary.org/obo/NCIT_C3114> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0020517" ;
                                            rdfs:comment "An immune response that occurs following exposure to an innocuous antigen, but that does not require the presence of preformed antibodies to the antigen. [Definition Source: NCI]"@en ;
                                            rdfs:label "Hypersensitivity"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3117
<http://purl.obolibrary.org/obo/NCIT_C3117> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0020538" ;
                                            rdfs:comment "Blood pressure that is abnormally high. [Definition Source: NCI]"@en ;
                                            rdfs:label "Hypertension"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3122
<http://purl.obolibrary.org/obo/NCIT_C3122> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2931> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0020546" ;
                                            rdfs:comment "A severe, acute increase in blood pressure that may result in stroke or myocardial ischemia. [Definition Source: NCI]"@en ;
                                            rdfs:label "Hypertensive Crisis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3123
<http://purl.obolibrary.org/obo/NCIT_C3123> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C26893> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0020550" ;
                                            rdfs:comment "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. [Definition Source: NCI]"@en ;
                                            rdfs:label "Hyperthyroidism"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3134
<http://purl.obolibrary.org/obo/NCIT_C3134> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2978> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0014511" ;
                                            rdfs:comment "The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule. [Definition Source: NCI]"@en ;
                                            rdfs:label "Epidermal Inclusion Cyst"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3243
<http://purl.obolibrary.org/obo/NCIT_C3243> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C27586> ,
                                                                                                    <http://purl.obolibrary.org/obo/NCIT_C99383> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0026769" ;
                                            rdfs:comment "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. [Definition Source: NCI]"@en ;
                                            rdfs:label "Multiple Sclerosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3245
<http://purl.obolibrary.org/obo/NCIT_C3245> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0026946" ;
                                            rdfs:comment "An infection caused by a fungus. [Definition Source: NCI]"@en ;
                                            rdfs:label "Fungal Infection"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3262
<http://purl.obolibrary.org/obo/NCIT_C3262> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0375111" ;
                                            rdfs:comment "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. [Definition Source: NCI]"@en ;
                                            rdfs:label "Neoplasm"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3283
<http://purl.obolibrary.org/obo/NCIT_C3283> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0028754" ;
                                            rdfs:comment "Having a high amount of body fat (body mass index [BMI] of 30 or more). [Definition Source: NCI]"@en ;
                                            rdfs:label "Obesity"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3298
<http://purl.obolibrary.org/obo/NCIT_C3298> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0029456" ;
                                            rdfs:comment "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). [Definition Source: NCI]"@en ;
                                            rdfs:label "Osteoporosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3329
<http://purl.obolibrary.org/obo/NCIT_C3329> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0032000" ;
                                            rdfs:comment "A well-differentiated neuroendocrine neoplasm that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. It has a low frequency of metastatic spread. When metastatic, the term metastatic pituitary neuroendocrine tumor is endorsed instead of pituitary carcinoma. (WHO) [Definition Source: NCI] It has exact synonim: Pituitary Gland Adenoma."@en ;
                                            rdfs:label "Pituitary Neuroendocrine Tumor"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3331
<http://purl.obolibrary.org/obo/NCIT_C3331> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0032227" ;
                                            rdfs:comment "Increased amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma. [Definition Source: NCI]"@en ;
                                            rdfs:label "Pleural Effusion"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3333
<http://purl.obolibrary.org/obo/NCIT_C3333> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0032285" ;
                                            rdfs:comment "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, due to infections (viruses, fungi, mycoplasma, or bacteria), treatment (e.g. radiation), or exposure (inhalation) to chemicals. Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. [Definition Source: NCI]"@en ;
                                            rdfs:label "Pneumonia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3346
<http://purl.obolibrary.org/obo/NCIT_C3346> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0033860" ;
                                            rdfs:comment "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. [Definition Source: NCI][attribution: NICHD]"@en ;
                                            rdfs:label "Psoriasis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3367
<http://purl.obolibrary.org/obo/NCIT_C3367> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1285578" ;
                                            rdfs:comment "Clinical, laboratory or molecular evidence, or absence of evidence of disease. [Definition Source: NCI]"@en ;
                                            rdfs:label "Finding"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3390
<http://purl.obolibrary.org/obo/NCIT_C3390> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C27586> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0038454" ;
                                            rdfs:comment "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. [Definition Source: NCI]"@en ;
                                            rdfs:label "Stroke"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3418
<http://purl.obolibrary.org/obo/NCIT_C3418> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0040558" ;
                                            rdfs:comment "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. [Definition Source: NCI]"@en ;
                                            rdfs:label "Toxoplasmosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3434
<http://purl.obolibrary.org/obo/NCIT_C3434> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0042133" ;
                                            rdfs:comment "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. [Definition Source: NCI]"@en ;
                                            rdfs:label "Uterine Corpus Leiomyoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34360
<http://purl.obolibrary.org/obo/NCIT_C34360> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0001627" ;
                                             rdfs:comment "A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. [Definition Source: NCI]"@en ;
                                             rdfs:label "Congenital Adrenal Hyperplasia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34373
<http://purl.obolibrary.org/obo/NCIT_C34373> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.bioontology.org/ontology/SNOMEDCT/37340000> ,
                                                                                                     <http://purl.obolibrary.org/obo/NCIT_C4802> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0002736" ;
                                             rdfs:comment "A neurodegenerative disorder characterized by progressive degeneration of the motor neurons of the central nervous system. It results in weakness and atrophy of the muscles which leads to an inability to initiate and control voluntary movements. [Definition Source: NCI]"@en ;
                                             rdfs:label "Amyotrophic Lateral Sclerosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34379
<http://purl.obolibrary.org/obo/NCIT_C34379> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2869> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0002881" ;
                                             rdfs:comment "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. [Definition Source: NCI]"@en ;
                                             rdfs:label "Hereditary Hemolytic Anemia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34423
<http://purl.obolibrary.org/obo/NCIT_C34423> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C92200> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0005586" ;
                                             rdfs:comment "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. [Definition Source: NCI]"@en ;
                                             rdfs:label "Bipolar Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34486
<http://purl.obolibrary.org/obo/NCIT_C34486> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C35020> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0434579" ;
                                             rdfs:comment "A closed dislocation of the shoulder [Definition Source: NCI]"@en ;
                                             rdfs:label "Closed Dislocation of Shoulder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34499
<http://purl.obolibrary.org/obo/NCIT_C34499> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0009438" ;
                                             rdfs:comment "The presence of one or more stones in the common bile duct. They are composed either of cholesterol or, less commonly, calcium salts and bilirubin. [Definition Source: NCI]"@en ;
                                             rdfs:label "Common Bile Duct Stone"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34607
<http://purl.obolibrary.org/obo/NCIT_C34607> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2869> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0015702" ;
                                             rdfs:comment "A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis. [Definition Source: NCI]"@en ;
                                             rdfs:label "Favism"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34632
<http://purl.obolibrary.org/obo/NCIT_C34632> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0017160" ;
                                             rdfs:comment "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. [Definition Source: NCI]"@en ;
                                             rdfs:label "Gastroenteritits"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34660
<http://purl.obolibrary.org/obo/NCIT_C34660> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C36282> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0018674" ;
                                             rdfs:comment "A traumatic injury to the head. [Definition Source: NCI]"@en ;
                                             rdfs:label "Head Trauma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34661
<http://purl.obolibrary.org/obo/NCIT_C34661> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0018681" ;
                                             rdfs:comment "Pain in various parts of the head, not confined to the area of distribution of any nerve. [Definition Source: NCI]"@en ;
                                             rdfs:label "Headache"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34685
<http://purl.obolibrary.org/obo/NCIT_C34685> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019270" ;
                                             rdfs:comment "The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. [Definition Source: NCI]"@en ;
                                             rdfs:label "Hernia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3469
<http://purl.obolibrary.org/obo/NCIT_C3469> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0013312" ;
                                            rdfs:comment "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males. [Definition Source: NCI] It has exact synonim: Dupuytren Contracture; Palmar Fibromatosis; Dupuytren's Contracture."@en ;
                                            rdfs:label "Palmar Fibromatosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34690
<http://purl.obolibrary.org/obo/NCIT_C34690> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C34685> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019294" ;
                                             rdfs:comment "The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. [Definition Source: NCI]"@en ;
                                             rdfs:label "Inguinal Hernia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34695
<http://purl.obolibrary.org/obo/NCIT_C34695> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C155871> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019345" ;
                                             rdfs:comment "A lesion caused by type 1 or type 2 herpes simplex virus, involving the oralfacial region. [Definition Source: NCI]"@en ;
                                             rdfs:label "Cold Sore"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34726
<http://purl.obolibrary.org/obo/NCIT_C34726> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0021345" ;
                                             rdfs:comment "A clinical syndrome of fever, sore throat, fatigue, and lymphadenopathy caused by infection with the Epstein-Barr virus. Subsequent physical findings may include hepatomegaly, palatal petechiae, jaundice, uvular edema, and splenomegaly. [Definition Source: NCI]"@en ;
                                             rdfs:label "Infectious Mononucleosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34733
<http://purl.obolibrary.org/obo/NCIT_C34733> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0021847" ;
                                             rdfs:comment "Ileus of the intestine in which there is no mechanical obstruction. [Definition Source: NCI]"@en ;
                                             rdfs:label "Intestinal Pseudo-Obstruction"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34736
<http://purl.obolibrary.org/obo/NCIT_C34736> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0022073" ;
                                             rdfs:comment "Inflammation of the iris and the ciliary body. [Definition Source: NCI]"@en ;
                                             rdfs:label "Iridocyclitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3478
<http://purl.obolibrary.org/obo/NCIT_C3478> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3117> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0085580" ;
                                            rdfs:comment "Hypertension that presents without an identifiable cause. [Definition Source: NCI]"@en ;
                                            rdfs:label "Essential Hypertension"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34786
<http://purl.obolibrary.org/obo/NCIT_C34786> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0023976" ;
                                             rdfs:comment "A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death. [Definition Source: NCI]"@en ;
                                             rdfs:label "Long QT Syndrome"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34889
<http://purl.obolibrary.org/obo/NCIT_C34889> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0030312" ;
                                             rdfs:comment "A finding of low numbers of red and white blood cells and platelets in the peripheral blood. [Definition Source: NCI]"@en ;
                                             rdfs:label "Pancytopenia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34911
<http://purl.obolibrary.org/obo/NCIT_C34911> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C112208> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0030824" ;
                                             rdfs:comment "An allergy to Penicillin. [Definition Source: NCI]"@en ;
                                             rdfs:label "Penicillin Allergy"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34922
<http://purl.obolibrary.org/obo/NCIT_C34922> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2893> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0031212" ;
                                             rdfs:comment "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work. [Definition Source: NCI]"@en ;
                                             rdfs:label "Personality Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34932
<http://purl.obolibrary.org/obo/NCIT_C34932> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1761609" ;
                                             rdfs:comment "Inflammation of the lungs due to the inhalation of solid or liquid material. [Definition Source: NCI]"@en ;
                                             rdfs:label "Aspiration Pneumonitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34935
<http://purl.obolibrary.org/obo/NCIT_C34935> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2978> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0032650" ;
                                             rdfs:comment "Swelling and protrusion of the gastrocnemius-semimembranosus bursa due to an accumulation of synovial fluid. [Definition Source: NCI]"@en ;
                                             rdfs:label "Baker Cyst"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34995
<http://purl.obolibrary.org/obo/NCIT_C34995> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0036202" ;
                                             rdfs:comment "An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin. Cardiac involvement is also possible. [Definition Source: NCI]"@en ;
                                             rdfs:label "Sarcoidosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C34997
<http://purl.obolibrary.org/obo/NCIT_C34997> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C34995> ,
                                                                                                     <http://purl.obolibrary.org/obo/NCIT_C98541> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0036205" ;
                                             rdfs:comment "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss. [Definition Source: NCI]"@en ;
                                             rdfs:label "Pulmonary Sarcoidosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35020
<http://purl.obolibrary.org/obo/NCIT_C35020> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0037005" ;
                                             rdfs:comment "A dislocation of the shoulder joint. [Definition Source: NCI]"@en ;
                                             rdfs:label "Shoulder Dislocation"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35024
<http://purl.obolibrary.org/obo/NCIT_C35024> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0037199" ;
                                             rdfs:comment "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. [Definition Source: NCI]"@en ;
                                             rdfs:label "Sinusitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35038
<http://purl.obolibrary.org/obo/NCIT_C35038> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0038160" ;
                                             rdfs:comment "Infection by Staphylococcus. [Definition Source: NCI]"@en ;
                                             rdfs:label "Staphylococcal Infection"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35053
<http://purl.obolibrary.org/obo/NCIT_C35053> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0039070" ;
                                             rdfs:comment "A spontaneous loss of consciousness caused by insufficient blood supply to the brain. [Definition Source: NCI]"@en ;
                                             rdfs:label "Syncope"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35069
<http://purl.obolibrary.org/obo/NCIT_C35069> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0039730" ;
                                             rdfs:comment "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. [Definition Source: NCI]"@en ;
                                             rdfs:label "Thalassemia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3510
<http://purl.obolibrary.org/obo/NCIT_C3510> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2920> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0151779" ;
                                            rdfs:comment "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. [Definition Source: NCI]"@en ;
                                            rdfs:label "Cutaneous Melanoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35131
<http://purl.obolibrary.org/obo/NCIT_C35131> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0042998" ;
                                             rdfs:comment "An inflammatory pathologic process that affects the vulva and the vagina. [Definition Source: NCI]"@en ;
                                             rdfs:label "Vulvovaginitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35204
<http://purl.obolibrary.org/obo/NCIT_C35204> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0155626" ;
                                             rdfs:comment "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. [Definition Source: NCI]"@en ;
                                             rdfs:label "Acute Myocardial Infarction"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35350
<http://purl.obolibrary.org/obo/NCIT_C35350> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0435750" ;
                                             rdfs:comment "A traumatic break in one of the bones in the rib cage that does not involve a break in the adjacent skin. [Definition Source: NCI]"@en ;
                                             rdfs:label "Closed Fracture of Rib"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35475
<http://purl.obolibrary.org/obo/NCIT_C35475> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0518988" ;
                                             rdfs:comment "An infectious process that affects a tooth. It is characterized by localized periapical or periodontal collection of pus. It presents with pain and swelling of the gums and/or cheek. [Definition Source: NCI]"@en ;
                                             rdfs:label "Tooth Abscess"@en .


###  http://purl.obolibrary.org/obo/NCIT_C35548
<http://purl.obolibrary.org/obo/NCIT_C35548> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1136085" ;
                                             rdfs:comment "An abnormal laboratory test result indicating the presence of monoclonal immunoglobulins in the blood or urine. [Definition Source: NCI]"@en ;
                                             rdfs:label "Monoclonal Gammopathy"@en .


###  http://purl.obolibrary.org/obo/NCIT_C36282
<http://purl.obolibrary.org/obo/NCIT_C36282> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0575141" ;
                                             rdfs:comment "Symptoms, physical examination results, and/or laboratory test results related to the head and neck. [Definition Source: NCI]"@en ;
                                             rdfs:label "Head and Neck Finding"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3671
<http://purl.obolibrary.org/obo/NCIT_C3671> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C3263723" ;
                                            rdfs:comment "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. [Definition Source: NCI]"@en ;
                                            rdfs:label "Injury"@en .


###  http://purl.obolibrary.org/obo/NCIT_C37920
<http://purl.obolibrary.org/obo/NCIT_C37920> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2881> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0428977" ;
                                             rdfs:comment "An abnormally slow heart rate. Thresholds for different age, gender, and patient populations exist. [Definition Source: NCI]"@en ;
                                             rdfs:label "Bradycardia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C38057
<http://purl.obolibrary.org/obo/NCIT_C38057> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0042571" ;
                                             rdfs:comment "A feeling of movement, a sensation as if the external world were revolving around the patient (objective vertigo) or as if he himself were revolving in space (subjective vertigo). Vertigo is medically distinct from dizziness, lightheadedness, and unsteadiness. [Definition Source: NCI]"@en ;
                                             rdfs:label "Vertigo"@en .


###  http://purl.obolibrary.org/obo/NCIT_C3884
<http://purl.obolibrary.org/obo/NCIT_C3884> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2978> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0241060" ;
                                            rdfs:comment "A cystic lesion located in the skin. [Definition Source: NCI]"@en ;
                                            rdfs:label "Skin Cyst"@en .


###  http://purl.obolibrary.org/obo/NCIT_C40197
<http://purl.obolibrary.org/obo/NCIT_C40197> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1512433" ;
                                             rdfs:comment "A precancerous neoplastic process that affects the cervical squamous epithelium. It is usually associated with human papillomavirus infection. It is classified as cervical squamous intraepithelial neoplasia 2 when there is nuclear atypia in both the upper and lower epithelial layers, mitotic figures are confined to the basal two-thirds of the epithelium, and maturation is present in the upper half of the epithelium. It is classified as cervical squamous intraepithelial neoplasia 3 when there is nuclear atypia and mitotic figures throughout the entire thickness of the epithelium, and maturation is absent or confined to the upper third of the epithelium. [Definition Source: NCI]"@en ;
                                             rdfs:label "High Grade Cervical Squamous Intraepithelial Neoplasia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C42568
<http://purl.obolibrary.org/obo/NCIT_C42568> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :UnitOfMeasure ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :uomTaxonomy ;
                                             rdfs:label "Unit by Category"@en .


###  http://purl.obolibrary.org/obo/NCIT_C4345
<http://purl.obolibrary.org/obo/NCIT_C4345> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3262> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1292778" ;
                                            rdfs:comment "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008) [Definition Source: NCI]"@en ;
                                            rdfs:label "Myeloproliferative Neoplasm"@en .


###  http://purl.obolibrary.org/obo/NCIT_C4349
<http://purl.obolibrary.org/obo/NCIT_C4349> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2852> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0338106" ;
                                            rdfs:comment "An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. [Definition Source: NCI]"@en ;
                                            rdfs:label "Colon Adenocarcinoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C4786
<http://purl.obolibrary.org/obo/NCIT_C4786> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C4802> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0497327" ;
                                            rdfs:comment "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. [Definition Source: NCI]"@en ;
                                            rdfs:label "Dementia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C4802
<http://purl.obolibrary.org/obo/NCIT_C4802> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C27586> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0270715" ;
                                            rdfs:comment "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. [Definition Source: NCI]"@en ;
                                            rdfs:label "Central Nervous System Degenerative Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C48698
<http://purl.obolibrary.org/obo/NCIT_C48698> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :PathologicalTNMFinding ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :pathologicalTNMFindingTaxonomy ;
                                             <http://purl.org/dc/terms/conformsTo> <https://uts.nlm.nih.gov/uts/umls/concept/C1707255> ;
                                             rdfs:label "Cancer TNM Finding Category"@en .


###  http://purl.obolibrary.org/obo/NCIT_C4872
<http://purl.obolibrary.org/obo/NCIT_C4872> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2916> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0678222" ;
                                            rdfs:comment "A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla. [Definition Source: NCI]"@en ;
                                            rdfs:label "Breast Carcinoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C4876
<http://purl.obolibrary.org/obo/NCIT_C4876> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C100104> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1457887" ;
                                            rdfs:comment "Subjective evidence of disease perceived by the patient. [Definition Source: NCI]"@en ;
                                            rdfs:label "Symptom"@en .


###  http://purl.obolibrary.org/obo/NCIT_C4914
<http://purl.obolibrary.org/obo/NCIT_C4914> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2916> ,
                                                                                                    <http://purl.obolibrary.org/obo/NCIT_C2920> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0699893" ;
                                            rdfs:comment "A carcinoma that arises from the skin. Representative examples are basal cell carcinoma and squamous cell carcinoma. [Definition Source: NCI]"@en ;
                                            rdfs:label "Skin Carcinoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C49343
<http://purl.obolibrary.org/obo/NCIT_C49343> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2931> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0149871" ;
                                             rdfs:comment "A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity. [Definition Source: NCI][attribution: NICHD]"@en ;
                                             rdfs:label "Deep Vein Thrombosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C50466
<http://purl.obolibrary.org/obo/NCIT_C50466> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2881> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0004238" ;
                                             rdfs:comment "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) [Definition Source: NCI]"@en ;
                                             rdfs:label "Atrial Fibrillation"@en .


###  http://purl.obolibrary.org/obo/NCIT_C50530
<http://purl.obolibrary.org/obo/NCIT_C50530> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0011880" ;
                                             rdfs:comment "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. [Definition Source: NCI]"@en ;
                                             rdfs:label "Diabetic Ketoacidosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C50577
<http://purl.obolibrary.org/obo/NCIT_C50577> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0018801" ;
                                             rdfs:comment "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. [Definition Source: NCI]"@en ;
                                             rdfs:label "Heart Failure"@en .


###  http://purl.obolibrary.org/obo/NCIT_C50643
<http://purl.obolibrary.org/obo/NCIT_C50643> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C34661> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0270697" ;
                                             rdfs:comment "Headache in erect position, after lumbar puncture; due to lowering of intracranial pressure by leakage of cerebrospinal fluid through the needle tract. [Definition Source: NCI]"@en ;
                                             rdfs:label "Lumbar Puncture Headache"@en .


###  http://purl.obolibrary.org/obo/NCIT_C50667
<http://purl.obolibrary.org/obo/NCIT_C50667> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1709158" ;
                                             rdfs:comment "An abnormality that affects hearing within the first month after birth. It may or may not result in hearing loss. [Definition Source: NCI]"@en ;
                                             rdfs:label "Neonatal Hearing Impairment"@en .


###  http://purl.obolibrary.org/obo/NCIT_C50713
<http://purl.obolibrary.org/obo/NCIT_C50713> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2931> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0034065" ;
                                             rdfs:comment "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. [Definition Source: NCI]"@en ;
                                             rdfs:label "Pulmonary Embolism"@en .


###  http://purl.obolibrary.org/obo/NCIT_C50781
<http://purl.obolibrary.org/obo/NCIT_C50781> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C27586> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007787" ;
                                             rdfs:comment "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. [Definition Source: NCI]"@en ;
                                             rdfs:label "Transient Ischemic Attack"@en .


###  http://purl.obolibrary.org/obo/NCIT_C51224
<http://purl.obolibrary.org/obo/NCIT_C51224> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2881> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0004239" ;
                                             rdfs:comment "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) [Definition Source: NCI]"@en ;
                                             rdfs:label "Atrial Flutter"@en .


###  http://purl.obolibrary.org/obo/NCIT_C53458
<http://purl.obolibrary.org/obo/NCIT_C53458> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C100104> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0311392" ;
                                             rdfs:comment "Objective evidence of disease perceptible to the examining healthcare provider. [Definition Source: NCI]"@en ;
                                             rdfs:label "Sign"@en .


###  http://purl.obolibrary.org/obo/NCIT_C60785
<http://purl.obolibrary.org/obo/NCIT_C60785> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0149889" ;
                                             rdfs:comment "A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess. [Definition Source: NCI]"@en ;
                                             rdfs:label "Anorectal Fistula"@en .


###  http://purl.obolibrary.org/obo/NCIT_C60989
<http://purl.obolibrary.org/obo/NCIT_C60989> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C99383> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0026896" ;
                                             rdfs:comment "A chronic autoimmune neuromuscular disorder characterized by skeletal muscle weakness. It is caused by the blockage of the acetylcholine receptors at the neuromuscular junction. [Definition Source: NCI]"@en ;
                                             rdfs:label "Myasthenia Gravis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C61277
<http://purl.obolibrary.org/obo/NCIT_C61277> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2883> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0003872" ;
                                             rdfs:comment "Joint inflammation associated with psoriasis. [Definition Source: NCI]"@en ;
                                             rdfs:label "Psoriatic Arthritis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C61443
<http://purl.obolibrary.org/obo/NCIT_C61443> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0002453" ;
                                             rdfs:comment "The absence of menses in a woman who has achieved reproductive age. [Definition Source: NCI]"@en ;
                                             rdfs:label "Amenorrhea"@en .


###  http://purl.obolibrary.org/obo/NCIT_C6727
<http://purl.obolibrary.org/obo/NCIT_C6727> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0162678" ;
                                            rdfs:comment "An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas. [Definition Source: NCI]"@en ;
                                            rdfs:label "Neurofibromatosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C70428
<http://purl.obolibrary.org/obo/NCIT_C70428> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0036749" ;
                                             rdfs:comment "Inflammation of a serous membrane. [Definition Source: NCI]"@en ;
                                             rdfs:label "Serositis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C7062
<http://purl.obolibrary.org/obo/NCIT_C7062> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :TumorProgression ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :tumorProgressionTaxonomy ;
                                            rdfs:comment "A neoplasm defined by its unique characteristic as they apply to clinical presentation and course, morphologic patterns, frequency, and/or age distribution. [Definition Source: NCI]"@en ;
                                            rdfs:label "Neoplasm by Special Category"@en .


###  http://purl.obolibrary.org/obo/NCIT_C71079
<http://purl.obolibrary.org/obo/NCIT_C71079> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0019360" ;
                                             rdfs:comment "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. [Definition Source: NCI]"@en ;
                                             rdfs:label "Herpes Zoster"@en .


###  http://purl.obolibrary.org/obo/NCIT_C7510
<http://purl.obolibrary.org/obo/NCIT_C7510> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C26893> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007115" ;
                                            rdfs:comment "A primary or metastatic malignant neoplasm affecting the thyroid gland. [Definition Source: NCI]"@en ;
                                            rdfs:label "Malignant Thyroid Gland Neoplasm"@en .


###  http://purl.obolibrary.org/obo/NCIT_C7570
<http://purl.obolibrary.org/obo/NCIT_C7570> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3262> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0027962" ;
                                            rdfs:comment "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. [Definition Source: NCI]"@en ;
                                            rdfs:label "Melanocytic Nevus"@en .


###  http://purl.obolibrary.org/obo/NCIT_C78302
<http://purl.obolibrary.org/obo/NCIT_C78302> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C4876> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0392171" ;
                                             rdfs:comment "Complaints describing a pattern similar to influenza, which may include one or more of the following symptoms: fever, chills, muscle or body aches, cough, sore throat, rhinitis, or fatigue. [Definition Source: NCI]"@en ;
                                             rdfs:label "Flu-Like Symptoms"@en .


###  http://purl.obolibrary.org/obo/NCIT_C78593
<http://purl.obolibrary.org/obo/NCIT_C78593> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0152169" ;
                                             rdfs:comment "Paroxysmal and severe flank pain radiating to the inguinal area. It is caused by the passage of a kidney stone through the ureter. [Definition Source: NCI]"@en ;
                                             rdfs:label "Renal Colic"@en .


###  http://purl.obolibrary.org/obo/NCIT_C79532
<http://purl.obolibrary.org/obo/NCIT_C79532> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C2607914" ;
                                             rdfs:comment "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. [Definition Source: NCI]"@en ;
                                             rdfs:label "Allergic Rhinitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C79593
<http://purl.obolibrary.org/obo/NCIT_C79593> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C4802> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0015371" ;
                                             rdfs:comment "A movement disorder caused by defects in the basal ganglia. The clinical manifestations include changes in the muscle tone, dyskinesia, and akinesia. Causes include vascular disorders, degenerative disorders, and antipsychotic drugs. [Definition Source: NCI]"@en ;
                                             rdfs:label "Extrapyramidal Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C80310
<http://purl.obolibrary.org/obo/NCIT_C80310> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C2698259" ;
                                             rdfs:comment "A monoclonal expansion of B-lymphocytes with or without the characteristic immunophenotype of chronic lymphocytic leukemia. It precedes virtually all cases of chronic lymphocytic leukemia/small lymphocytic lymphoma. [Definition Source: NCI]"@en ;
                                             rdfs:label "Monoclonal B_Cell Lymphocytosis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C80385
<http://purl.obolibrary.org/obo/NCIT_C80385> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0242339" ;
                                             rdfs:comment "A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides. [Definition Source: NCI]"@en ;
                                             rdfs:label "Dyslipidemia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C84484
<http://purl.obolibrary.org/obo/NCIT_C84484> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2869> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0162316" ;
                                             rdfs:comment "Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. [Definition Source: NCI]"@en ;
                                             rdfs:label "Iron-Deficiency Anemia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C84601
<http://purl.obolibrary.org/obo/NCIT_C84601> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0242644" ;
                                             rdfs:comment "A disorder caused by a spinal injury leading to an incomplete spinal lesion. Patients develop paralysis, ataxia and loss of sensation. Causes include spinal cord tumors, spinal traumas, ischemia, and inflammatory processes affecting the spine. [Definition Source: NCI]"@en ;
                                             rdfs:label "Brown-Sequard Syndrome"@en .


###  http://purl.obolibrary.org/obo/NCIT_C84705
<http://purl.obolibrary.org/obo/NCIT_C84705> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0015523" ;
                                             rdfs:comment "A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding. [Definition Source: NCI]"@en ;
                                             rdfs:label "Hereditary Factor XI Deficiency"@en .


###  http://purl.obolibrary.org/obo/NCIT_C8486
<http://purl.obolibrary.org/obo/NCIT_C8486> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0677721" ;
                                            rdfs:comment "Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid. [Definition Source: NCI]"@en ;
                                            rdfs:label "Ann Arbor Stage IV Mantle Cell Lymphoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C84950
<http://purl.obolibrary.org/obo/NCIT_C84950> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0029134" ;
                                             rdfs:comment "A disorder characterized by inflammation of the optic nerve. Causes include autoimmune disorders, infections, toxins, drugs, and multiple sclerosis. It may manifest with acute loss of vision and pain. [Definition Source: NCI]"@en ;
                                             rdfs:label "Optic Neuritis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C85024
<http://purl.obolibrary.org/obo/NCIT_C85024> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0282513" ;
                                             rdfs:comment "A rare neurologic progressive disorder characterized by impairment of the language and speech abilities. [Definition Source: NCI]"@en ;
                                             rdfs:label "Primary Progressive Aphasia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C8509
<http://purl.obolibrary.org/obo/NCIT_C8509> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3262> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0677930" ;
                                            rdfs:comment "A tumor at the original site of origin. [Definition Source: NCI]"@en ;
                                            rdfs:label "Primary Neoplasm"@en .


###  http://purl.obolibrary.org/obo/NCIT_C85233
<http://purl.obolibrary.org/obo/NCIT_C85233> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C1839259" ;
                                             rdfs:comment "A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia. [Definition Source: NCI]"@en ;
                                             rdfs:label "Spinal and Bulbar Muscular Atrophy, X-linked 1"@en .


###  http://purl.obolibrary.org/obo/NCIT_C8668
<http://purl.obolibrary.org/obo/NCIT_C8668> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0854831" ;
                                            rdfs:comment "Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid. [Definition Source: NCI]"@en ;
                                            rdfs:label "Ann Arbor Stage IV T-Cell Non-Hodgkin Lymphoma"@en .


###  http://purl.obolibrary.org/obo/NCIT_C87497
<http://purl.obolibrary.org/obo/NCIT_C87497> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0016053" ;
                                             rdfs:comment "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. [Definition Source: NCI]"@en ;
                                             rdfs:label "Fibromyalgia"@en .


###  http://purl.obolibrary.org/obo/NCIT_C89715
<http://purl.obolibrary.org/obo/NCIT_C89715> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0149931" ;
                                             rdfs:comment "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. [Definition Source: NCI]"@en ;
                                             rdfs:label "Migraine"@en .


###  http://purl.obolibrary.org/obo/NCIT_C9175
<http://purl.obolibrary.org/obo/NCIT_C9175> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0021843" ;
                                            rdfs:comment "Blockage of the normal flow of the intestinal contents within the bowel. [Definition Source: NCI]"@en ;
                                            rdfs:label "Bowel Obstruction"@en .


###  http://purl.obolibrary.org/obo/NCIT_C92200
<http://purl.obolibrary.org/obo/NCIT_C92200> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2893> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0525045" ;
                                             rdfs:comment "A category of psychiatric disorders which have as their most predominant feature a disturbance in mood. [Definition Source: NCI]"@en ;
                                             rdfs:label "Mood Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C9242
<http://purl.obolibrary.org/obo/NCIT_C9242> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0007102" ;
                                            rdfs:comment "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. [Definition Source: NCI]"@en ;
                                            rdfs:label "Malignant Colon Neoplasm"@en .


###  http://purl.obolibrary.org/obo/NCIT_C92560
<http://purl.obolibrary.org/obo/NCIT_C92560> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C4317146" ;
                                             rdfs:comment "The backward flow of stomach acid contents into the esophagus (the tube that connects the mouth to the stomach). [Definition Source: NCI]"@en ;
                                             rdfs:label "Gastroesophageal Reflux"@en .


###  http://purl.obolibrary.org/obo/NCIT_C93040
<http://purl.obolibrary.org/obo/NCIT_C93040> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0001973" ;
                                             rdfs:comment "Physical and psychological dependence on alcohol. [Definition Source: NCI]"@en ;
                                             rdfs:label "Alcohol Dependance"@en .


###  http://purl.obolibrary.org/obo/NCIT_C9305
<http://purl.obolibrary.org/obo/NCIT_C9305> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     bto:DiseaseDisorderOrFinding ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3262> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                            <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0006826" ;
                                            rdfs:comment "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas, Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. [Definition Source: NCI]"@en ;
                                            rdfs:label "Malignant Neoplasm"@en .


###  http://purl.obolibrary.org/obo/NCIT_C94575
<http://purl.obolibrary.org/obo/NCIT_C94575> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0036285" ;
                                             rdfs:comment "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. [Definition Source: NCI]"@en ;
                                             rdfs:label "Scarlet Fever"@en .


###  http://purl.obolibrary.org/obo/NCIT_C97132
<http://purl.obolibrary.org/obo/NCIT_C97132> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0008049" ;
                                             rdfs:comment "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. [Definition Source: NCI]"@en ;
                                             rdfs:label "Chicken Pox"@en .


###  http://purl.obolibrary.org/obo/NCIT_C97142
<http://purl.obolibrary.org/obo/NCIT_C97142> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0001361" ;
                                             rdfs:comment "An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes. [Definition Source: NCI]"@en ;
                                             rdfs:label "Acute Tonsillitis"@en .


###  http://purl.obolibrary.org/obo/NCIT_C98541
<http://purl.obolibrary.org/obo/NCIT_C98541> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0746102" ;
                                             rdfs:comment "A persistent non-neoplastic disorder of the lungs. Representative examples include: chronic obstructive pulmonary disease, chronic bronchitis, emphysema, pulmonary fibrosis, pneumoconiosis, asbestosis, atelectasis, radiation induced pneumonitis, and radiation fibrosis. [Definition Source: NCI]"@en ;
                                             rdfs:label "Chronic Lung Disorder"@en .


###  http://purl.obolibrary.org/obo/NCIT_C98967
<http://purl.obolibrary.org/obo/NCIT_C98967> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2991> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0022738" ;
                                             rdfs:comment "A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations. [Definition Source: NCI]"@en ;
                                             rdfs:label "Klippel-Feil Syndrome"@en .


###  http://purl.obolibrary.org/obo/NCIT_C99039
<http://purl.obolibrary.org/obo/NCIT_C99039> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0034628" ;
                                             rdfs:comment "Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. [Definition Source: NCI]"@en ;
                                             rdfs:label "Radius Fracture"@en .


###  http://purl.obolibrary.org/obo/NCIT_C99083
<http://purl.obolibrary.org/obo/NCIT_C99083> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3671> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0040185" ;
                                             rdfs:comment "Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. [Definition Source: NCI]"@en ;
                                             rdfs:label "Tibia Fracture"@en .


###  http://purl.obolibrary.org/obo/NCIT_C99383
<http://purl.obolibrary.org/obo/NCIT_C99383> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      bto:DiseaseDisorderOrFinding ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C2889> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                                             <http://purl.org/dc/terms/conformsTo> "https://uts.nlm.nih.gov/uts/umls/concept/C0751871" ;
                                             rdfs:comment "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. [Definition Source: NCI]"@en ;
                                             rdfs:label "Autoimmune Nervous System Disorder"@en .


###  http://purl.obolibrary.org/obo/OBI_0400103
<http://purl.obolibrary.org/obo/OBI_0400103> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :PlatformModel ;
                                             rdfs:comment "A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. [Definition Source: Ontology for Biomedical Investigations (OBI)]"@en ;
                                             rdfs:label "DNA Sequencer"@en .


###  http://purl.obolibrary.org/obo/OBI_0500000
<http://purl.obolibrary.org/obo/OBI_0500000> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :CohortDesign ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :cohortDesignTaxonomy ;
                                             rdfs:comment "A plan specification comprised of protocols (which may specify how and what kinds of data will be gathered) that are executed as part of an investigation and is realized during a study design execution. [Definition Source: OBI]"@en ;
                                             rdfs:label "Study Design"@en .


###  http://purl.obolibrary.org/obo/SO_0001762
<http://purl.obolibrary.org/obo/SO_0001762> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :AlleleOrigin ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :alleleOriginTaxonomy ;
                                            rdfs:comment "A quality inhering in a variant by virtue of its origin. [Definition Source: SO]"@en ;
                                            rdfs:label "Variant Origin"@en .


###  http://purl.obolibrary.org/obo/SO_0001775
<http://purl.obolibrary.org/obo/SO_0001775> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :AlleleOrigin ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/SO_0001762> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :alleleOriginTaxonomy ;
                                            rdfs:comment "A variant in the genetic material inherited from the mother. [Definition Source: Sequence Types and Features Ontology]"@en ;
                                            rdfs:label "Maternal Variant"@en .


###  http://purl.obolibrary.org/obo/SO_0001776
<http://purl.obolibrary.org/obo/SO_0001776> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :AlleleOrigin ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/SO_0001762> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :alleleOriginTaxonomy ;
                                            rdfs:comment "A variant in the genetic material inherited from the father. [Definition Source: Sequence Types and Features Ontology]"@en ;
                                            rdfs:label "Paternal Variant"@en .


###  http://purl.obolibrary.org/obo/SO_0001777
<http://purl.obolibrary.org/obo/SO_0001777> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :AlleleOrigin ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/SO_0001762> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :alleleOriginTaxonomy ;
                                            rdfs:comment "A variant that has arisen after splitting of the embryo, resulting in the variant being found in only some of the tissues or cells of the body. [Definition Source: Sequence Types and Features Ontology]"@en ;
                                            rdfs:label "Somatic Variant"@en .


###  http://purl.obolibrary.org/obo/SO_0001778
<http://purl.obolibrary.org/obo/SO_0001778> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :AlleleOrigin ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/SO_0001762> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :alleleOriginTaxonomy ;
                                            rdfs:comment "A variant present in the embryo that is carried by every cell in the body. [Definition Source: Sequence Types and Features Ontology]"@en ;
                                            rdfs:label "Germline Variant"@en .


###  http://purl.obolibrary.org/obo/SO_0001779
<http://purl.obolibrary.org/obo/SO_0001779> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :AlleleOrigin ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/SO_0001762> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :alleleOriginTaxonomy ;
                                            rdfs:comment "A variant that is found only by individuals that belong to the same pedigree. [Definition Source: Sequence Types and Features Ontology]"@en ;
                                            rdfs:label "Pedigree Specific Variant"@en .


###  http://purl.obolibrary.org/obo/SO_0001780
<http://purl.obolibrary.org/obo/SO_0001780> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :AlleleOrigin ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/SO_0001762> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :alleleOriginTaxonomy ;
                                            rdfs:comment "A variant found within only speficic populations. [Definition Source: Sequence Types and Features Ontology]"@en ;
                                            rdfs:label "Population Specific Variant"@en .


###  http://purl.obolibrary.org/obo/SO_0001781
<http://purl.obolibrary.org/obo/SO_0001781> rdf:type owl:NamedIndividual ,
                                                     <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                     :AlleleOrigin ;
                                            <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/SO_0001762> ;
                                            <http://www.w3.org/2004/02/skos/core#inScheme> :alleleOriginTaxonomy ;
                                            rdfs:comment "A variant arising in the offspring that is not found in either of the parents. [Definition Source: Sequence Types and Features Ontology]"@en ;
                                            rdfs:label "De-Novo Variant"@en .


###  http://www.ebi.ac.uk/efo/EFO_0001427
<http://www.ebi.ac.uk/efo/EFO_0001427> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :BiosampleStatus ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :biosampleStatusTaxonomy ;
                                       rdfs:comment "A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls). [Definition Source: EFO]"@en ;
                                       rdfs:label "Case Control Design"@en .


###  http://www.ebi.ac.uk/efo/EFO_0009091
<http://www.ebi.ac.uk/efo/EFO_0009091> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :SampleProcessing ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :sampleProcessingTaxonomy ;
                                       rdfs:comment "Process which results in the separation of a biological specimen into individual cells or a cell suspension. [Definition Source: EFO]"@en ;
                                       rdfs:label "Sample Dissociation"@en .


###  http://www.ebi.ac.uk/efo/EFO_0009654
<http://www.ebi.ac.uk/efo/EFO_0009654> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :BiosampleStatus ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0001427> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :biosampleStatusTaxonomy ;
                                       rdfs:comment "A material sample derived from cells or tissue representing a physiologically or phenotypically normal state. [Definition Source: The Experimental Factor Ontology]"@en ;
                                       rdfs:label "Reference Sample"@en .


###  http://www.ebi.ac.uk/efo/EFO_0009655
<http://www.ebi.ac.uk/efo/EFO_0009655> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :BiosampleStatus ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0001427> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :biosampleStatusTaxonomy ;
                                       rdfs:comment "A material sample derived from cells or tissue representing an observed or suspected physiologically, genomically or phenotypically abnormal state. [Definition Source: The Experimental Factor Ontology]"@en ;
                                       rdfs:label "Abnormal Sample"@en .


###  http://www.ebi.ac.uk/efo/EFO_0009656
<http://www.ebi.ac.uk/efo/EFO_0009656> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :BiosampleStatus ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0009655> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :biosampleStatusTaxonomy ;
                                       rdfs:comment "A material sample derived from neoplastic cells or tissue. [Definition Source: The Experimental Factor Ontology]"@en ;
                                       rdfs:label "Neoplastic Sample"@en .


###  http://www.ebi.ac.uk/efo/EFO_0010941
<http://www.ebi.ac.uk/efo/EFO_0010941> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :BiosampleStatus ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0009656> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :biosampleStatusTaxonomy ;
                                       rdfs:comment "A neoplastic sample derived from a cancer metastasis (not from a primary tumor). [Definition Source: The Experimental Factor Ontology]"@en ;
                                       rdfs:label "Metastasis Sample"@en .


###  http://www.ebi.ac.uk/efo/EFO_0010942
<http://www.ebi.ac.uk/efo/EFO_0010942> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :BiosampleStatus ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0009656> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :biosampleStatusTaxonomy ;
                                       rdfs:comment "A neoplastic sample derived from a primary tumor (not from a cancer metastasis). [Definition Source: The Experimental Factor Ontology]"@en ;
                                       rdfs:label "Primary Tumor Sample"@en .


###  http://www.ebi.ac.uk/efo/EFO_0010943
<http://www.ebi.ac.uk/efo/EFO_0010943> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :BiosampleStatus ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0009656> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :biosampleStatusTaxonomy ;
                                       rdfs:comment "A neoplastic sample derived from a recurrent tumor (not from a primary occurrence of a neoplasm). [Definition Source: The Experimental Factor Ontology]"@en ;
                                       rdfs:label "Recurrent Tumor Sample"@en .


###  http://www.ebi.ac.uk/efo/EFO_0020073
<http://www.ebi.ac.uk/efo/EFO_0020073> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0030067> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment "Assessment of high-level copy loss. High-level loss is associated with a large negative log ratio between the ploidy at an indicated position and regional base ploidy. High-level loss is typically indicative of focal deletions. This term should be preferred in contrast to complete genomic deletion when a complete loss of all alleles at an indicated position cannot be reasonably assessed. [Definition Source: The Experimental Factor Ontology (EFO)]"@en ;
                                       rdfs:label "High-Level Copy Number Loss"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030035
<http://www.ebi.ac.uk/efo/EFO_0030035> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :BiosampleStatus ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0009656> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :biosampleStatusTaxonomy ;
                                       rdfs:comment "A neoplastic sample derived from a cancer cell line. [Definition Source: The Experimental Factor Ontology]"@en ;
                                       rdfs:label "Cancer Cell Line Sample"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030063
<http://www.ebi.ac.uk/efo/EFO_0030063> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment """Result of genomic copy number assessment of a genomic element or region.

Assessment of the copy number of a genomic feature or region, referenced to the expected allele count in a given sample. Examples of an expected count would be: a) autosomal chromosome in human germline: 2; b) X-chromosome in human male: 1; c) triploid cancer cell line: 3, i.e. a region with 2 alleles in a triploid cell line would correspond to a low-level copy number loss. [Definition Source: EFO]"""@en ;
                                       rdfs:label "Copy Number Assessment"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030064
<http://www.ebi.ac.uk/efo/EFO_0030064> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0030063> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment "Copy number assessment of regional base ploidy. [Definition Source: The Experimental Factor Ontology (EFO)]"@en ;
                                       rdfs:label "Regional Base Ploidy"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030067
<http://www.ebi.ac.uk/efo/EFO_0030067> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0030063> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment "Assessment of genomic copy number loss."@en ;
                                       rdfs:label "Copy Number Loss"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030068
<http://www.ebi.ac.uk/efo/EFO_0030068> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0030067> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment "Assessment of low-level genomic copy number loss. [Definition Source: The Experimental Factor ontology (EFO)]"@en ;
                                       rdfs:label "Low-Level Copy Number Loss"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030069
<http://www.ebi.ac.uk/efo/EFO_0030069> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0020073> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment "Assessment of complete genomic deletion. [Definition Source: The Experimental Factor Ontology (EFO)]"@en ;
                                       rdfs:label "Complete Genomic Deletion"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030070
<http://www.ebi.ac.uk/efo/EFO_0030070> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0030063> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment "Assessment of genomic copy number gain. [Definition Source: The Experimental Factor ontology (EFO)]"@en ;
                                       rdfs:label "Copy Number Gain"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030071
<http://www.ebi.ac.uk/efo/EFO_0030071> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0030070> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment "Assessment of low-level genomic copy number gain. [Definition Source: The Experimental Factor Ontology (EFO)]"@en ;
                                       rdfs:label "Low-Level Copy Number Gain"@en .


###  http://www.ebi.ac.uk/efo/EFO_0030072
<http://www.ebi.ac.uk/efo/EFO_0030072> rdf:type owl:NamedIndividual ,
                                                <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                :CopyNumberAssessment ;
                                       <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://www.ebi.ac.uk/efo/EFO_0030070> ;
                                       <http://www.w3.org/2004/02/skos/core#inScheme> :copyNumberAssessmentTaxonomy ;
                                       rdfs:comment "Assessment of high-level genomic copy number gain. [Definition Source: The Experimental Factor Ontology (EFO)]"@en ;
                                       rdfs:label "High-Level Copy Number Gain"@en .


###  http://www.sequenceontology.org/browser/current_release/term/SO:0001583
<http://www.sequenceontology.org/browser/current_release/term/SO:0001583> rdf:type owl:NamedIndividual ,
                                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                                   :MolecularEffect ;
                                                                          <http://www.w3.org/2004/02/skos/core#inScheme> :molecularEffectTaxonomy ;
                                                                          rdfs:comment "A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved. [Definition Source: The Sequence Ontology]"@en ;
                                                                          rdfs:label "Missense Variant"@en .


###  http://www.sequenceontology.org/browser/current_release/term/SO:0001623
<http://www.sequenceontology.org/browser/current_release/term/SO:0001623> rdf:type owl:NamedIndividual ,
                                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                                   :GenomicFeatureClass ;
                                                                          <http://www.w3.org/2004/02/skos/core#inScheme> :genomicFeatureClassTaxonomy ;
                                                                          rdfs:comment "A UTR variant of the 5' UTR. [Definition Source: The Sequence Ontology]"@en ;
                                                                          rdfs:label "5 Prime UTR Variant"@en .


###  http://www.sequenceontology.org/browser/current_release/term/SO:0002322
<http://www.sequenceontology.org/browser/current_release/term/SO:0002322> rdf:type owl:NamedIndividual ,
                                                                                   <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                                   :MolecularEffect ;
                                                                          <http://www.w3.org/2004/02/skos/core#inScheme> :molecularEffectTaxonomy ;
                                                                          rdfs:comment "A stop_gained (SO:0001587) variant that allows the transcript to escape nonsense-mediated decay (NMD). [Definition Source: The Sequence Ontology]"@en ;
                                                                          rdfs:label "Stop Gained NMD Escaping"@en .


###  https://hpo.jax.org/browse/term/HP:0000118
<https://hpo.jax.org/browse/term/HP:0000118> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :PhenoClinicCategory ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :phenoClinicCategoryTaxonomy ;
                                             rdfs:comment "A deviation from normal morphology, physiology, or behavior, and good phenotyping is a cornerstone of a doctor's daily work. [PMID: 25109851]"@en ;
                                             rdfs:label "Phenotypic Abnormality"@en .


###  https://hpo.jax.org/browse/term/HP:0012823
<https://hpo.jax.org/browse/term/HP:0012823> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :PhenotypicFeatureModifier ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :phenotypicFeatureModifierTaxonomy ;
                                             rdfs:comment "Characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. [Definition Source: HP]"@en ;
                                             rdfs:label "Clinical Modifier"@en .


###  https://hpo.jax.org/browse/term/HP:0012824
<https://hpo.jax.org/browse/term/HP:0012824> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :Severity ;
                                             rdfs:comment "The intensity or degree of a manifestation. [Definition Source: HP]"@en ;
                                             rdfs:label "Severity"@en .


###  https://hpo.jax.org/browse/term/HP:0012825
<https://hpo.jax.org/browse/term/HP:0012825> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :Severity ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <https://hpo.jax.org/browse/term/HP:0012824> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :severityTaxonomy ;
                                             rdfs:comment "Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [Definition Source: The Human Phenotype Ontology (HP)]"@en ;
                                             rdfs:label "Mild"@en .


###  https://hpo.jax.org/browse/term/HP:0012826
<https://hpo.jax.org/browse/term/HP:0012826> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :Severity ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <https://hpo.jax.org/browse/term/HP:0012824> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :severityTaxonomy ;
                                             rdfs:comment "Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. [Definition Source: The Human Phenotype Ontology (HP)]"@en ;
                                             rdfs:label "Moderate"@en .


###  https://hpo.jax.org/browse/term/HP:0012827
<https://hpo.jax.org/browse/term/HP:0012827> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :Severity ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <https://hpo.jax.org/browse/term/HP:0012824> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :severityTaxonomy ;
                                             rdfs:comment "Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean. [Definition Source: The Human Phenotype Ontology (HP)]"@en ;
                                             rdfs:label "Borderline"@en .


###  https://hpo.jax.org/browse/term/HP:0012828
<https://hpo.jax.org/browse/term/HP:0012828> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :Severity ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <https://hpo.jax.org/browse/term/HP:0012824> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :severityTaxonomy ;
                                             rdfs:comment "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [Definition Source: The Human Phenotype Ontology (HP)]"@en ;
                                             rdfs:label "Severe"@en .


###  https://hpo.jax.org/browse/term/HP:0012829
<https://hpo.jax.org/browse/term/HP:0012829> rdf:type owl:NamedIndividual ,
                                                      <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                      :Severity ;
                                             <http://www.w3.org/2004/02/skos/core#broaderTransitive> <https://hpo.jax.org/browse/term/HP:0012824> ;
                                             <http://www.w3.org/2004/02/skos/core#inScheme> :severityTaxonomy ;
                                             rdfs:comment "Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [Definition Source: The Human Phenotype Ontology (HP)]"@en ;
                                             rdfs:label "Profound"@en .


###  https://orcid.org/0000-0002-0676-682X
<https://orcid.org/0000-0002-0676-682X> rdf:type owl:NamedIndividual ,
                                                 <http://www.w3.org/2000/10/swap/pim/contact#Person> ;
                                        rdfs:label "Laura Menotti"@en ;
                                        <http://xmlns.com/foaf/0.1/name> "Laura Menotti"@en .


###  https://orcid.org/0000-0003-4970-4554
<https://orcid.org/0000-0003-4970-4554> rdf:type owl:NamedIndividual ,
                                                 <http://www.w3.org/2000/10/swap/pim/contact#Person> ;
                                        rdfs:label "Gianmaria Silvello"@en ;
                                        <http://xmlns.com/foaf/0.1/name> "Gianmaria Silvello"@en .


###  https://w3id.org/brainteaser/ontology/schema/BehavioralImpairment
bto:BehavioralImpairment rdf:type owl:NamedIndividual ,
                                  <http://www.w3.org/2004/02/skos/core#Concept> ,
                                  bto:DiseaseDisorderOrFinding ;
                         <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                         <http://www.w3.org/2004/02/skos/core#inScheme> <https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> ;
                         rdfs:comment "Diminished psychological function."@en ;
                         rdfs:label "Behavioral Impairment"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/alleleOriginTaxonomy
:alleleOriginTaxonomy rdf:type owl:NamedIndividual ,
                               <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                      <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/SO_0001762> ;
                      rdfs:comment "This taxonomy describes allele origin of variant in sample from the Variant Origin (SO:0001762). Categories are `somatic variant`, `germline variant`, `maternal variant`, `paternal variant`, `de novo variant`, `pedigree specific variant`, `population specific variant`. Corresponds to Variant Inheritance in FHIR. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                      rdfs:label "Allele Origin Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/assayTaxonomy
:assayTaxonomy rdf:type owl:NamedIndividual ,
                        <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
               rdfs:comment "This taxonomy describes the assay used to produce the measurement. [Definition Source: Phenopacket v2]"@en ;
               rdfs:label "Assay Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/biosampleStatusTaxonomy
:biosampleStatusTaxonomy rdf:type owl:NamedIndividual ,
                                  <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                         rdfs:comment "Concept hierarchy from Experimental Factor Ontology (EFO) Material Entity term (BFO:0000040). Classification of the sample in abnormal sample (EFO:0009655) or reference sample (EFO:0009654)."@en ;
                         rdfs:label "Biosample Status Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortDataTypeTaxonomy
:cohortDataTypeTaxonomy rdf:type owl:NamedIndividual ,
                                 <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                        rdfs:comment "SKOS Concept hierarchy describing the type of information. Preferably values from Genomics Cohorts Knowledge Ontology (GeCKO) or others when GeCKO is not applicable. [Definition Source: Beacon v2 Data Model]"@en ;
                        rdfs:label "Cohort Data Type Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortDesignTaxonomy
:cohortDesignTaxonomy rdf:type owl:NamedIndividual ,
                               <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                      <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/OBI_0500000> ;
                      rdfs:comment "SKOS Concept hierarchy describing the cohort type by its design. A plan specification comprised of protocols (which may specify how and what kinds of data will be gathered) that are executed as part of an investigation and is realized during a study design execution. Value from Ontologized MIABIS (OMIABIS) Study design ontology term tree (OBI:0500000). [Definition Source: Beacon v2 Data Model]"@en ;
                      rdfs:label "Cohort Design Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/cohortSexTaxonomy
:cohortSexTaxonomy rdf:type owl:NamedIndividual ,
                            <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                   rdfs:comment "Sex of the individual. Recommended values from NCIT General Qualifier (NCIT:C27993). Sex refers to the biological characteristics that define humans as female or male. While these sets of biological characteristics are not mutually exclusive, as there are individuals who possess both, they tend to differentiate humans as males and females. [Definition Source: World Health Organization]"@en ;
                   rdfs:label "Cohort Sex Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/copyNumberAssessmentTaxonomy
:copyNumberAssessmentTaxonomy rdf:type owl:NamedIndividual ,
                                       <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                              <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://www.ebi.ac.uk/efo/EFO_0030063> ;
                              rdfs:comment "SKOS Concept hierarchy describing the type of copy number change allowed."@en ;
                              rdfs:label "Copy Number Assessment Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/diagnosticMarkerTaxonomy
:diagnosticMarkerTaxonomy rdf:type owl:NamedIndividual ,
                                   <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                          rdfs:comment "This taxonomy describes clinically relevant biomarkers."@en ;
                          rdfs:label "Diagnostic Marker Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/diseaseStageTaxonomy
:diseaseStageTaxonomy rdf:type owl:NamedIndividual ,
                               <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                      rdfs:label "Disease Stage Taxonomy"@en ,
                                 "SKOS Concept hierarchy descrbinig the disease stage. Value from Ontology for General Medical Science (OGMS), e.g. acute onset (OGMS:0000119). [Defintion Source: Beacon v2 Data Model]"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/genomicFeatureClassTaxonomy
:genomicFeatureClassTaxonomy rdf:type owl:NamedIndividual ,
                                      <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                             rdfs:comment "SKOS Concept hierarchy describing the class of genomic feature affected by the variant. Values from SO (Sequence ontology) are recommended, e.g. `SO:0001623: 5 prime UTR variant`"@en ;
                             rdfs:label "Genomic Feature Class Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/geographicLocationTaxonomy
:geographicLocationTaxonomy rdf:type owl:NamedIndividual ,
                                     <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                            rdfs:comment "Country or region of origin of the individual (birthplace or residence place regardless of ethnic origin). Value from GAZ Geographic Location ontology (GAZ:00000448). [Definition Source: Beacon v2 Data Model]"@en ;
                            rdfs:label "Geographic Location Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/librarySourceTaxonomy
:librarySourceTaxonomy rdf:type owl:NamedIndividual ,
                                <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                       <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/GENEPIO_0001965> ;
                       rdfs:comment "This taxonomy describes the source of the sequencing or hybridization library. [Definition Source: GA4GH Beacon v2 Data Model]. The taxonomy is based on GENEPIO."@en ;
                       rdfs:label "Library Source Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/molecularEffectTaxonomy
:molecularEffectTaxonomy rdf:type owl:NamedIndividual ,
                                  <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                         rdfs:comment "SKOS Concept hiearchy describing the class of molecular consequence generated by the variant. Values from SO (Sequence Ontology) are recommended, e.g.  `SO:0001583: missense variant`."@en ;
                         rdfs:label "Molecular Effect Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/obtentionProcedureTaxonomy
:obtentionProcedureTaxonomy rdf:type owl:NamedIndividual ,
                                     <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                            rdfs:comment "This taxonomy describes the obtention procedures to retrieve a biosample or a measurement."@en ;
                            rdfs:label "Obtention Procedure Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/pathologicalStageTaxonomy
:pathologicalStageTaxonomy rdf:type owl:NamedIndividual ,
                                    <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                           <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/NCIT_C28108> ;
                           rdfs:comment "Pathological stage, if applicable, preferably as subclass of NCIT:C28108 - Disease Stage Qualifier. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                           rdfs:label "Pathological Stage Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/pathologicalTNMFindingTaxonomy
:pathologicalTNMFindingTaxonomy rdf:type owl:NamedIndividual ,
                                         <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                                <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/NCIT_C48698> ;
                                rdfs:comment "Pathological TNM findings, if applicable, preferably as subclass of Cancer TNM Finding Category (NCIT:C48698). [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                                rdfs:label "Pathological TNM Finding Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/phenoClinicCategoryTaxonomy
:phenoClinicCategoryTaxonomy rdf:type owl:NamedIndividual ,
                                      <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                             <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/MONDO_0000001> ;
                             rdfs:comment "This taxonomy comprises the type of disease, condition, phenotypic measurement, etc. The taxonomy is mainly based on MONDO on Human Phenotype Ontology (HP)"@en ;
                             rdfs:label "Phenoclinic Category Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/phenoclinicEvidenceTaxonomy
:phenoclinicEvidenceTaxonomy rdf:type owl:NamedIndividual ,
                                      <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                             <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/ECO_0000006> ,
                                                                                 <http://purl.obolibrary.org/obo/ECO_0000361> ;
                             rdfs:comment "This taxonomy describes the type of evidence supporting variant-disease association. Recommended: values from the Evidence & Conclusion Ontology (ECO) [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                             rdfs:label "Phenoclinic Evidence Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/phenotypicFeatureModifierTaxonomy
:phenotypicFeatureModifierTaxonomy rdf:type owl:NamedIndividual ,
                                            <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                                   <http://www.w3.org/2004/02/skos/core#hasTopConcept> <https://hpo.jax.org/browse/term/HP:0012823> ;
                                   rdfs:comment "SKOS Concept hierarchy to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. Example use here would be one or more terms from HPO Clinical Modifier (HP:0012823). Source: Phenopackets v2 [Definition Source: Beacon v2 Data Model]"@en ;
                                   rdfs:label "Phenotypic Feature Modifier Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/phenotypicFeatureTypeTaxonomy
:phenotypicFeatureTypeTaxonomy rdf:type owl:NamedIndividual ,
                                        <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                               rdfs:comment "SKOS Concept hierarchy denoting the phenotypic feature, preferably using a value from Human Phenotype Ontology (HPO). [Definition Source: Beacon v2 Data Model]"@en ;
                               rdfs:label "Phenotypic Feature Type Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/platformModelTaxonomy
:platformModelTaxonomy rdf:type owl:NamedIndividual ,
                                <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                       rdfs:comment "This taxonomy describes the experimental platform or methodology used. For sequencing platforms the use of \"OBI:0400103 - DNA sequencer\" is suggested."@en ;
                       rdfs:label "Platform Model Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sampleOriginDetailTaxonomy
:sampleOriginDetailTaxonomy rdf:type owl:NamedIndividual ,
                                     <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                            rdfs:comment "Tissue from which the sample was taken or sample origin matching the category set in 'sampleOriginType'. Value from Uber-anatomy ontology (UBERON) or BRENDA tissue / enzyme source (BTO), Ontology for Biomedical Investigations (OBI) or Cell Line Ontology (CLO). [Definition source: GA4GH Beacon v2 Data Model]"@en ;
                            rdfs:label "Sample Origin Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sampleOriginTypeTaxonomy
:sampleOriginTypeTaxonomy rdf:type owl:NamedIndividual ,
                                   <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                          <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/BFO_0000040> ;
                          rdfs:comment "Category of sample origin. Value from Ontology for Biomedical Investigations (OBI) material entity (BFO:0000040) ontology. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                          rdfs:label "Sample Origin Type Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/sampleProcessingTaxonomy
:sampleProcessingTaxonomy rdf:type owl:NamedIndividual ,
                                   <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                          <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://www.ebi.ac.uk/efo/EFO_0009091> ;
                          rdfs:label "Sample Processing Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/severityTaxonomy
:severityTaxonomy rdf:type owl:NamedIndividual ,
                           <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                  <http://www.w3.org/2004/02/skos/core#hasTopConcept> <https://hpo.jax.org/browse/term/HP:0012824> ;
                  rdfs:comment "SKOS Concept Hierarchy describing the severity level. Values from HP Ontology."@en ;
                  rdfs:label "Severity Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/speciesTaxonomy
:speciesTaxonomy rdf:type owl:NamedIndividual ,
                          <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                 rdfs:comment "SKOS Concept hierarchy representing a species from the NCBI species taxonomy."@en ;
                 rdfs:label "Species Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/tumorGradeTaxonomy
:tumorGradeTaxonomy rdf:type owl:NamedIndividual ,
                             <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                    <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/NCIT_C28076> ;
                    rdfs:comment "SKOS Concept hierarchy representing the tumor grade. Child term of NCIT:C28076 (Disease Grade Qualifier) or equivalent. [Definition Source: GA4GH Beacon v2 Data model]"@en ;
                    rdfs:label "Tumor Grade Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/tumorProgressionTaxonomy
:tumorProgressionTaxonomy rdf:type owl:NamedIndividual ,
                                   <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                          <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/NCIT_C7062> ;
                          rdfs:comment "Tumor progression category indicating primary, metastatic or recurrent progression. Ontology value from Neoplasm by Special Category ontology (NCIT:C7062). [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                          rdfs:label "Tumor Progression Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/uomTaxonomy
:uomTaxonomy rdf:type owl:NamedIndividual ,
                      <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
             <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/NCIT_C42568> ;
             rdfs:comment "This taxonomy describes the kind of unit. Recommended from NCIT Unit of Category ontology term (NCIT:C42568) descendants. [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
             rdfs:label "Unit of Measure Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/genomics/schema/zigosityTaxonomy
:zigosityTaxonomy rdf:type owl:NamedIndividual ,
                           <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                  <http://www.w3.org/2004/02/skos/core#broaderTransitive> <http://purl.obolibrary.org/obo/GENO_0000133> ;
                  <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/GENO_0000133> ;
                  rdfs:comment "This taxonomy describes the zygosity in which variant is present in the sample from the Zygosity Ontology (GENO:0000391) , e.g `heterozygous` (GENO:0000135) [Definition Source: GA4GH Beacon v2 Data Model]"@en ;
                  rdfs:label "Zygosity Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy
<https://w3id.org/hereditary/ontology/phenoclinical/schema/diseaseDisorderFindingTaxonomy> rdf:type owl:NamedIndividual ,
                                                                                                    <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                                                                                           <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.obolibrary.org/obo/NCIT_C2991> ,
                                                                                                                                               <http://purl.obolibrary.org/obo/NCIT_C3367> ;
                                                                                           rdfs:comment "This taxonomy comprises disease, disorder or findings. The taxonomy is mainly based on NCIT."@en ;
                                                                                           rdfs:label "Disease, Disorder or Finding Taxonomy"@en .


###  https://w3id.org/hereditary/ontology/phenoclinical/schema/groupTaxonomy
<https://w3id.org/hereditary/ontology/phenoclinical/schema/groupTaxonomy> rdf:type owl:NamedIndividual ,
                                                                                   <http://www.w3.org/2004/02/skos/core#ConceptScheme> ;
                                                                          <http://www.w3.org/2004/02/skos/core#hasTopConcept> <http://purl.bioontology.org/ontology/SNOMEDCT/372148003> ;
                                                                          rdfs:comment "This taxonomy describes the different ethinic groups. The taxonomy is based on SNOMED-CT."@en ;
                                                                          rdfs:label "Group Taxonomy"@en .


###  https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606
<https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606> rdf:type owl:NamedIndividual ,
                                                                            <http://www.w3.org/2004/02/skos/core#Concept> ,
                                                                            :Species ;
                                                                   <http://www.w3.org/2004/02/skos/core#inScheme> :speciesTaxonomy ;
                                                                   rdfs:comment "NCBI Taxonomy ID: 9606"@en ;
                                                                   rdfs:label "Human"@en .


###  Generated by the OWL API (version 4.5.9.2019-02-01T07:24:44Z) https://github.com/owlcs/owlapi