Christi Denney Colin Batchelor Elgar Pichler Joanne Luciano Julia Kozlovsky M. Scott Marshall Matthias Samwald Michel Dumontier Susie Stephens Trish Whetzel The Translational Medicine Ontology (TMO) is a high-level, patient-centric ontology that extends existing domain ontologies to integrate data across aspects of drug discovery and clinical practice. The ontology has been developed by participants in the World Wide Web Consortium’s Semantic Web for Health Care and Life Sciences Interest Group. W3C Health Care and Life Sciences Interest Group Creative Commons - By Attribution ontology, translational medicine, personalized medicine, life sciences, health care Translational Medicine Ontology Further information can be found in the publication "The Translational Medicine Ontology and Knowledge Base: driving personalized medicine by bridging the gap between bench and bedside", published in the Journal of Biomedical Semantics: http://www.jbiomedsem.com/content/2/S2/S1 1.0.2 in relation to has unit has attribute is variant of provides supporting evidence for attribute of is described by has value A short acronym identifying a sample population that was examined by the HapMap project. HapMap population name abbreviation obo2:IAO_0000009 obo2:IAO_0000028 obo2:IAO_0000030 obo2:IAO_0000033 obo2:IAO_0000109 obo2:IAO_0000300 obo2:IAO_0000302 obo2:IAO_0000303 obo2:IAO_0000306 obo2:IAO_0000308 obo2:IAO_0000310 drugbank:references obo2:IAO_0000313 obo2:IAO_0000400 obo2:IAO_0000442 snap:Continuant dcterms:Agent dcterms:AgentClass foaf:Agent snap:Disposition snap:GenericallyDependentContinuant snap:MaterialEntity snap:Quality snap:Role span:ProcessualEntity transmed:TMO_0000 An active ingredient is a pharmaceutical ingredient that has the disposition to treat a certain disease. HL7V3.0:ACTI active ingredient transmed:TMO_0001 A formulated pharmaceutical is a chemical substance whose granular parts include an active ingredient, an excipient, and possibly a stability regulator for the active ingredient. NCIt:Pharmaceutical_Formulation UMLS:C1705957 dailymed:drugs drugbank:drugs medicare:drugs pharmgkb:Drug sider:drugs formulated pharmaceutical transmed:TMO_0002 A pharmaceutical product is a formulated pharmaceutical that has been approved to treat patients. NCIt:Finished_Pharmaceutical_Product UMLS:C1708062 pharmaceutical product transmed:TMO_0003 An inactive ingredient is a pharmaceutical ingredient that is part of a pharmaceutical formulation but does not have the disposition to treat a certain disease. HL7V3.0:IACT inactive ingredient transmed:TMO_0004 An absent phenotype is a phenotype that represents the notable absence of a characteristic. absent phenotype transmed:TMO_0005 A genetic description is a description of the genetic composition of some entity. genetic description transmed:TMO_0006 A role played by a material entity it being the subject of a study. NCIt:Target UMLS:C1521840 subject role transmed:TMO_0007 NCI Thesaurus A prognosis is a hypothesis about the likely course of a disease, the chance of recovery or recurrence. Galen:Prognosis MSH:D011379 NCIt:Prognosis UMLS:C0033325 prognosis transmed:TMO_0008 A patient role is a role played a human subject that receives medical attention, care or treatment or who is registered with a medical institution with the purpose of receiving medical care when necessary. patient role transmed:TMO_0009 An medical expert role is a role played by a human in a clinical context who is involved in the assessment or administration of treatment or its results. OCRe_clinical:Clinician medical expert role transmed:TMO_0010 A biomedical measure is an information content entity that describes or is a measure of biomedically relevant entities. biomedical measure transmed:TMO_0011 A molecular structure description is a description of a molecule in terms of its composition and connectivity. Examples: connection table, fragment, pharmacophore. molecular structure description transmed:TMO_0012 American Heritage(R) Stedman's Medical Dictionary A patent is an information entity granted by a patent office which confers upon the patenter the sole right to make, use and sell an invention for a set period of time. BIRNLex:2364 BRO:Patent Galen:patent IAO:0000313 MSH:D020490 patent transmed:TMO_0013 An exclusion criterion for clinical trial is a clinical trial criterion which, if satisfied, supports the exclusion of candidate patients. IAO:0000124 exclusion criterion for clinical trial transmed:TMO_0014 A inclusion criterion for clinical trial is a clinical trial criterion which, if satisfied, supports the inclusion of candidate patients. IAO:0000124 inclusion criterion for clinical trial transmed:TMO_0015 A diagnostic result is a medical measure of determining the nature of a problem or illness through medical procedure. IAO:0000124 diagnostic result transmed:TMO_0016 A clinical protocol is a directive information entity about the objective(s), design, methodology, statistical considerations, and organization of a clinical procedure. IAO:0000124 clinical protocol transmed:TMO_0017 Evidence is a group of indicators that are relevant in some decision-making process. IAO:0000123 NCIt:Evidence UMLS:C0332120 evidence transmed:TMO_0018 An environmental description is a description concerning some aspect of a physical environment. IAO:0000123 environmental description transmed:TMO_0019 A phenotype is an observable characteristic of an organism. phenotype transmed:TMO_0020 A personal medical history is a medical record consisting of a collection of information obtained from the patient and from other sources concerning the patient's health. NCIt:Personal_Medical_History UMLS:C0262926 pchr:Encounter personal medical history transmed:TMO_0021 A clinical trial protocol is a clinical protocol about the objective(s), design, methodology, statistical considerations, and organization of a clinical trial. clinical trial protocol transmed:TMO_0022 Richard Scheuermann, Werner Ceusters, Barry Smith in "Toward an Ontological Treatment of Disease and Diagnosis" A quality of a patient, a material entity that is part of a patient, or a processual entity that a patient participates in, any one of which is observed in a physical examination and is deemed by the clinician to be of clinical significance. NCIt:Sign SNOMEDCT:72670004 UMLS:C0311392 sign transmed:TMO_0023 Richard Scheuermann, Werner Ceusters, Barry Smith in "Toward an Ontological Treatment of Disease and Diagnosis" A quality of a patient that is observed by the patient or a processual entity experienced by the patient, either of which is hypothesized by the patient to be a realization of a disease. ACGT:Symptom CPR:symptom NCIt:Symptom UMLS:C1457887 symptom transmed:TMO_0024 A medical measure is a measure that describes or is a measure of medically relevant entities. medical measure transmed:TMO_0025 An institution is an entity created by legislation or by practice which acts legally in the same way as a person. ACGT:Institution BIRNLex:2085 LNC:LP76237-4 NCIt:Institution SNOMEDCT:385437003 UMLS:C1272753 dailymed:organization linkedct:agency institution transmed:TMO_0026 A regulatory authority is an institution created by legislation which acts to control what treatments can be prescribed. regulatory authority transmed:TMO_0027 NCIt:Healthcare_Payer UMLS:C2348942 This is, at the moment, a kind of institution because the payers are typically insurance companies or government bodies. But it is possible in some jurisdictions to pay for treatment oneself. Treat by renaming to "institutional payer". --CRB institutional payer transmed:TMO_0028 market transmed:TMO_0029 A study is a planned process that consists of planning, study execution, documentation and the production of conclusion(s). IAO:0000121 LNC:LP74341-6 NCIt:Study OBI:0000471 OCRe_research:Study SNOMEDCT:224699009 UMLS:C0947630 study transmed:TMO_0030 An intervention is a study in which a substance is administered to a subject or group of subjects. IAO:0000121 NCIt:Intervention OCRe_research:Intervention linkedct:intervention intervention transmed:TMO_0031 NCI thesaurus A diagnosis is a study composed of investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results of such an investigation. ACGT:Diagnosis FHHO:Diagnosis Galen:Diagnosis LNC:LP72437-4 MSH:D003933 NCIt:Diagnosis OBI:0000075 OCRe_clinical:Diagnosis SNOMEDCT:439401001 UMLS:C0011900 diagnosis transmed:TMO_0032 A clinical trial is a study to assess the efficacy of a substance for the treatment of a condition. HL7V3.0:CLNTRL IAO:0000121 MSH:D016430 NCIt:Clinical_Trial SNOMEDCT:110465008 linkedct:trials clinical trial transmed:TMO_0033 A drug measure is a biomedical measure that describes or is a measure of drugs or their activies. drug measure transmed:TMO_0034 Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. CHEBI:23367 GRO:MolecularEntity molecular entity transmed:TMO_0035 A biological macromolecule that is composed of amino acids linked in a linear sequence (a polypeptide chain). ACGT:Protein BIRNLex:23 CHEBI:36080 FMA:Protein GO:0003675 GRO:Protein Galen:Protein NCIt:Protein ODGI:Protein PRO:000000001 SNOMEDCT:88878007 SO:0000358 UMLS:C0033684 protein transmed:TMO_0036 A cell line is a material entity that consists of a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism. BIRNLex:11036 EFO:0000322 MSH:D002460 NCIt:Cell_Line UMLS:C0007600 cell line transmed:TMO_0037 A gene is a part of DNA that encodes information about other molecular entities. FMA:Structural_gene GRO:Gene Galen:Gene LNC:LP32747-5 MSH:D005796 NCIt:Gene NCIt:Gene_Object NDFRT:C242394 PRO:Gene SNOMEDCT:67271001 SO:0000704 UMLS:C0017337 diseasome:genes pharmgkb:Gene gene transmed:TMO_0038 A genotype with a single-nucleotide polymorphism (SNP). A SNP is a variation at a single nucleotide locus in the genomes of members of a species. For a variation to be considered a SNP, it must occur in at least 1% of the population. MSH:D020641 NCIt:Single_Nucleotide_Polymorphism SO:0000694 UMLS:C0752046 genotype with SNP transmed:TMO_0039 A genotype of which variants with a different number of copies of a sequence identifical region exist. SO:0001019 genotype with copy number variation transmed:TMO_0040 A drug-drug interaction is a drug interaction in which two drugs interact in such a way to produce an abnormal phenotypic event. IAO:0000124 SNOMEDCT:404204005 drug-drug interaction transmed:TMO_0041 IAO:0000124 MSH:D018450 NCIt:Disease_Progression NDFRT:C7812 OBI:0000354 UMLS:C0242656 disease progression transmed:TMO_0042 The mechanism of action is a description of processes and behaviour of a biologically active molecule in its administration into a living system. NCIt:Mechanism_of_Action mechanism of action transmed:TMO_0043 CDISC glossary An adverse drug event is a any untoward medical occurrence in a patient or clinical investigation subject administered a pharmaceutical product and which does not necessarily have a causal relationship with this treatment. An adverse event (AE) can therefore be any unintended sign (including an abnormal laboratory finding), symptom,or disease temporally associated with the use of a medicinal (investigational) product, whether or not related to the medicinal (investigational) product. MSH:D004362 SNOMEDCT:406644009 sider:side_effects adverse drug event transmed:TMO_0044 NCI Thesaurus A pathway is a representation of a set or series of interactions, often forming a network, which biologists have found useful to group together for organizational, historic, biophysical, or other reasons. GRO:Pathway Galen:Pathway IEV:0000001 MI:0619 NCIt:Pathway pathway transmed:TMO_0045 A population is a collection of organisms. IAO:0000120 OCRe_research:Population dcterms:AgentClass population transmed:TMO_0046 An arm of clinical study is a population that participates in a clinical trial and is subject to some intervention. IAO:0000120 linkedct:trial_arm_group arm of clinical study transmed:TMO_0047 Richard Scheuermann, Werner Ceusters, Barry Smith in "Toward an Ontological Treatment of Disease and Diagnosis" A quality of an organism which predisposes it to undergo pathological processes because of one or more disorders in that organism. ACGT:Disease BIRNLex:11013 DOID:4 GRO:Disease LNC:LP21006-9 MSH:D004194 NCIt:Disease_or_Disorder NDFRT:C2140 OBI:0000155 UMLS:C0012634 diseasome:diseases linkedct:condition pharmgkb:Disease disease transmed:TMO_0048 An allele is a specific variant of a gene. SO:0001023 allele transmed:TMO_0049 A metabolite role is the role played by a material entity that is a metabolic substrate, intermediate or product. CHEBI:25212 Galen:Metabolite LNC:LP20702-4 NCIt:Metabolite UMLS:C0870883 metabolite role transmed:TMO_0050 Drug efficacy is a measure of the capabilty of a drug to produce an intended effect as a function of its concentration. IAO:0000124 drug efficacy transmed:TMO_0051 NCI Thesaurus Treatment safety is a condition that refers to an absence of harmful side effects resulting from use of the product and may be assessed by laboratory testing of biological samples, special tests and procedures, psychiatric evaluation, and/or physical examination of subjects. IAO:0000124 treatment safety value transmed:TMO_0052 A biomarker is a characteristic of a material entity that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention. IAO:0000121 MSH:D054316 NCIt:Biomarker UMLS:C1955886 biomarker transmed:TMO_0053 Comparative effectiveness is a drug measure that provides information about which treatment works best, for whom, and under what circumstances. IAO:0000121 comparative effectiveness transmed:TMO_0054 Lifestyle is a description about an individual`s manner of living. IAO:0000121 MSH:D008019 NCIt:Lifestyle SNOMEDCT:134436002 SNOMEDCT:366925008 SNOMEDCT:367150003 UMLS:C0023676 lifestyle transmed:TMO_0055 A health outcome is a medical measure of health or loss of health. IAO:0000121 linkedct:primary_outcomes linkedct:secondary_outcomes health outcome transmed:TMO_0056 Toxicity is a quality of a chemical substance which indicates the capacity to cause injury to an organism in a dose dependent manner. ACGT:Toxicity MSH:Q000633 NCIt:Toxicity UMLS:C0600688 toxicity transmed:TMO_0057 Dosage is the amount of a chemical administered to, or taken by, an organism and expressed as some function of the organism and of time (mg/kg body weight/day). EFO:0000428 LNC:LP6801-7 NCIt:Dose SNOMEDCT:260911001 UMLS:C0178602 dosage transmed:TMO_0058 A syndrome is a group of signs and symptoms that characterize a particular abnormality. ACGT:Syndrome DOID:225 EFO:0000428 EFO:0000716 MSH:D013577 NCIt:Syndrome UMLS:C0039082 syndrome transmed:TMO_0059 A hypothesis is an information content entity that describes a possible correlation between two or more variables. NCIt:Hypothesis OBI:0000074 UMLS:C1512571 hypothesis transmed:TMO_0060 A clinical subject role is the role played by an organism who is the subject of a clinical procedure or assessment. OCRe_clinical:Subject clinical subject role transmed:TMO_0061 A side effect is an effect of an intervention, whether therapeutic or adverse, that is secondary to the intended effect of the intervention. NCIt:Side_Effect side effect transmed:TMO_0062 A pharmaceutical ingredient role is a role played by a chemical substance that is part of a pharmaceutical formulation. pharmaceutical ingredient role transmed:TMO_0063 A chemical substance is a material entity consisting of many chemical entities and typically has connected boundaries. chemical substance transmed:TMO_0064 An active ingredient role is a role played by a chemical substance which has the disposition to treat a certain disease and is part of a pharmaceutical formulation. active ingredient role transmed:TMO_0065 An inactive ingredient role is a role played by a chemical substance which is part of a pharmaceutical formulation but does not have the disposition to treat a certain disease. inactive ingredient role transmed:TMO_0066 A molecular target is a molecular entity that is the target of a transformation process. drugbank:targets molecular target transmed:TMO_0067 protein target transmed:TMO_0068 A diagnostic criterion is a directive information entity for consideration during a diagnosis which, if satisfied, contributes to a diagnostic result IAO:0000124 diagnostic criterion transmed:TMO_0069 A diagnostic inclusion criterion is a diagnostic criterion for consideration during a diagnosis which, if satisfied, supports a diagnostic result. IAO:0000124 diagnostic inclusion criterion transmed:TMO_0070 A diagnostic exclusion criterion is a diagnostic criterion for consideration during a diagnosis which, if satisfied, excludes a diagnostic result. IAO:0000124 diagnostic exclusion criterion transmed:TMO_0071 A pharmaceutical ingredient is a chemical substance that is part of a formulated pharmaceutical that bears a pharmaceutical ingredient role. dailymed:ingredients pharmaceutical ingredient transmed:TMO_0072 A molecular target role is a role played by a chemical entity in which it is a specific target of an intervention that aims to change it behavior. molecular target role transmed:TMO_0073 A chemical entity role is a role played by a chemical entity. chemical entity role transmed:TMO_0074 An expert role is a role played by a knowledgeable person. expert role transmed:TMO_0075 A planned process is a process in which specific objectives are realized in a plan designed by some agent. BIRNLex:11021 OBI:0000011 planned process transmed:TMO_0076 An assay is a planned process with the objective to obtain information about a material entity. BIRNLex:11025 EFO:0001455 Galen:Assay MSH:Q000032 NCIt:Assay OBI:0000070 PATO:0000003 SNOMEDCT:272392009 UMLS:C1510438 cto_asyont:Assay assay transmed:TMO_0077 A clinical trial criterion is a directive information entity which, if satisfied, contributes to the inclusion or exclusion of candidate patients. clinical trial criterion transmed:TMO_0078 An enzyme is a protein that catalyzes (increases the rate of) a chemical reaction. drugbank:enzymes enzyme transmed:TMO_0080 In this context, a genotype is a material entity made up of two DNA regions on two homologous chromosomes in a diploid cell. One chromosome is derived from the father and one is derived from the mother. The two DNA regions are located at the same genetic locus on each of the two chromosomes. genotype transmed:TMO_0081 A haplotype a variant DNA region which contains several smaller variant DNA regions which tend to be inherited together. haplotype transmed:TMO_0082 A gene variant is a variant of another gene based on some difference in sequence (composition and connectivity) gene variant transmed:TMO_0083 Ethinicity is the quality of an organism that describes membership in a social group based on a common heritage. ethnicity transmed:TMO_0084 organismal quality transmed:TMO_0085 Age is the temporal quality of an organism that refers to the length of time elapsed since it came into existence. For most animals and humans, age refers to the length of time elapsed since birth. age transmed:TMO_0086 Sex is an quality that inheres in an organism for which sexual differentiation is required for sexual reproduction. sex transmed:TMO_0087 Male is a sex quality for which sex organs contain only male gametes male transmed:TMO_0088 Female is a sex quality for which sex organs contain only female gametes female transmed:TMO_0089 description transmed:TMO_0090 process description transmed:TMO_0091 temporal quality transmed:TMO_0092 comparative description transmed:TMO_0093 A measure is an information content entity that describes or quantifies some thing. measure transmed:TMO_0094 A quantity is a quantitative measure of some feature. quantity transmed:TMO_0095 toxic transmed:TMO_0096 non toxic transmed:TMO_0097 historical description transmed:TMO_0098 medical history transmed:TMO_0099 numerical quantity transmed:TMO_0100 A functional quantity is a quantity obtained as a result of a function involving one or more parameters. functional quantity transmed:TMO_0101 ranged numerical quantity transmed:TMO_0102 scale numerical value transmed:TMO_0103 An enumerated numerical quantity is a numerical quantity selected from a discrete set of quantities. enumerated numerical quantity transmed:TMO_0104 unit of measurement transmed:TMO_0105 A multitude numerical quantity is a numerical quantity that indicates the number of individuals. multitude numerical quantity transmed:TMO_0106 physical description transmed:TMO_0107 3D molecular structure transmed:TMO_0108 genetic variant transmed:TMO_0109 obsolete transmed:TMO_0110 statistical quantity transmed:TMO_0111 p-value transmed:TMO_0112 e-value transmed:TMO_0113 temporal functional quantity transmed:TMO_0114 pharmacokinetic measure transmed:TMO_0115 pharmacodynamic measure transmed:TMO_0116 spatial positional datum transmed:TMO_0117 A magnitude of a genetic marker refers to the the significance of some genetic marker magnitude of a genetic marker transmed:TMO_0118 An indicator is an entity for which its observation/detection is used in some objective. indicator transmed:TMO_0119 A sequence position is a identifier for an item in a sequence of items and whose numeric value relates to the position of the item from the start of the sequence. sequence position transmed:TMO_0120 numerical quantity selected from a continuous variable transmed:TMO_0121 numerical quantity selected from a discrete variable transmed:TMO_0122 A chromosomal nucleotide sequence position is an ordinal number which reflects the position of a nucleotide in relation to the first nucleotide of the same chromosome. chromosomal sequence position transmed:TMO_0123 An amino acid sequence position indicates the position of an amino acid residue in relation to the start of the peptide chain. amino acid sequence position transmed:TMO_0124 human transmed:TMO_0125 A nucleotide sequence position indicates the position of a nucleotide residue in relation to the start of the nucleic acid. nucleotide sequence position transmed:TMO_0126 A dexoyribonucleotide sequence position is an ordinal number which reflects the position of a deoxyribonucleotide in relation to the first deoxyribonucleotide of the same deoxyribonucleic acid (DNA). deoxyribonucleotide sequence position transmed:TMO_0127 A ribonucleotide sequence position is an ordinal number which reflects the position of a ribonucleotide in relation to the first ribonucleotide of the same ribonucleic acid (RNA). ribonucleotide sequence position transmed:TMO_0128 A sequence is an ordered list of objects of a specified type. sequence transmed:TMO_0129 An amino acid sequence is a sequence of amino acids in which a word (1 more more sequence of characters) represents an amino acid and their adjacency indicates their connectivity. amino acid sequence protein sequence transmed:TMO_0130 A nucleotide sequence is a sequence of nucleotides in which a word (1 more more sequence of characters) represents a nucleotide and their adjacency indicates their connectivity. nucleotide sequence transmed:TMO_0131 a DNA sequence is a sequence of characters that represents the composition and connectivity of a a DNA molecule. DNA sequence transmed:TMO_0132 RNA sequence transmed:TMO_0133 single letter amino acid sequence transmed:TMO_0134 three letter amino acid sequence transmed:TMO_0135 medical description transmed:TMO_0136 medical finding transmed:TMO_0137 An identifier is an information content entity which consists of one or more symbols in order to identify some entity. identifier transmed:TMO_0138 A genomic sequence is the collection of sequences that make up an individual's genetic matter. genomic sequence transmed:TMO_0139 A collection of humans human population transmed:TMO_0140 A collection of humans from a particular region. regionally-defined human population transmed:TMO_0141 A reference genomic sequence is a genomic sequence that serves as a standard or reference, and may be composed by the consensus of the genomes of a number of individuals or parts thereof. reference genomic sequence transmed:TMO_0142 medical report transmed:TMO_0143 patient record transmed:TMO_0144 organism transmed:TMO_0145 mouse transmed:TMO_0146 physical quantity transmed:TMO_0147 temporal quantity transmed:TMO_0148 time elapsed transmed:TMO_0149 mass value transmed:TMO_0150 length value transmed:TMO_0151 criterion transmed:TMO_0152 chromosome transmed:TMO_0153 nucleotide residue transmed:TMO_0154 amino acid residue transmed:TMO_0155 A nucleic acid region is a part of a nucleic acid that is made up of a continous chain of nucleotide residues. nucleic acid region transmed:TMO_0156 dsDNA transmed:TMO_0157 A chromosome number is an identifier for a chromosome that identifies it from a collection of chromosomes for a given organism. chromosome number transmed:TMO_0158 An item in a collection identifier is an identifier for an entity that is a member of a collection. item in collection identifier transmed:TMO_0159 An item in a collection identifier is an identifier for an entity that is a member of an ordered sequence of items (based on some attribute). item in sequence identifier transmed:TMO_0161 snp identifier transmed:TMO_0162 ncbi reference snp identifier transmed:TMO_0163 ncbi submitter snp identifier transmed:TMO_0164 organization transmed:TMO_0165 gene symbol transmed:TMO_0166 In a group of allelic variants in a population, the ancestral allele is the allele from which all other allelic variants are believed to have descended from during phylogeny. ancestral allele transmed:TMO_0167 nucleic acid transmed:TMO_0168 molecular complex transmed:TMO_0169 date transmed:TMO_0170 publication date transmed:TMO_0171 gene name transmed:TMO_0172 A variant DNA region is a DNA region of which variants with altered sequence exist in different individuals of the same species or in different samples of the same individual (e.g., genetic variation within an individual, such as mutations in a cancerous tumor). The number of nucleotide residues in different variants can differ (e.g., because of insertions and deletions). variant DNA region transmed:TMO_0173 insertion transmed:TMO_0174 deletion transmed:TMO_0175 invariant nucleic acid region transmed:TMO_0176 pharmgkb sample identifier transmed:TMO_0178 age 0 9 transmed:TMO_0179 age in years transmed:TMO_0180 weight in kilograms transmed:TMO_0181 height in centimeters transmed:TMO_0182 centimeter transmed:TMO_0183 kilogram transmed:TMO_0184 year transmed:TMO_0188 mass per unit time transmed:TMO_0189 milligram per week transmed:TMO_0190 dose transmed:TMO_0191 dose in milligram per week transmed:TMO_0192 ratio transmed:TMO_0193 International Normalized Ratio on the Therapeutic Dose of Warfarin transmed:TMO_0194 medical descriptor transmed:TMO_0195 Smoker status is a medical descriptor of the tobacco smoking behaviour of a person. smoker status transmed:TMO_0197 pharmgkb subject identifier transmed:TMO_0198 race transmed:TMO_0215 A DNA region is a part of a DNA molecule that is made up of a continous chain of deoxyribonucleotide residues. DNA region transmed:TMO_0217 genetic status transmed:TMO_0218 companion diagnostic role transmed:TMO_0219 genetic test transmed:TMO_0220 DNA transmed:TMO_0221 diagnostic role transmed:TMO_0225 A genotype of which variants exist that differ though an insertion, deletion or a combination thereof. genotype with indel variation transmed:TMO_0226 genotype with short tandem repeat variation transmed:TMO_0227 A genotype with a multiple-nucleotide polymorphism (MNP). An MNP is a variation of several adjacent nucleotides in the genomes of members of a species. For a variation to be considered an MNP, it must occur in at least 1% of the population. genotype with multiple nucleotide polymorphism transmed:TMO_0228 A part of a molecular entity or a set of molecular entities. It can be made up of several non-connected sub-parts, potentially on separate molecular entities. molecular entity part transmed:TMO_0229 A genotype containing one matching allele on each chromosome (e.g., CYP2C9*1/*3) genotype with allele transmed:TMO_0304 A drug interaction is a process in which a drug interacts with a living system in such a way that it affects its behaviour. drugbank:drug_interactions pharmgkb:Association pharmgkb:DrugGeneVariantInteraction drug interaction CEU A population of individuals living in Utah with ancestry from northern and western Europe. The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. CEPH (Utah residents with ancestry from northern and western Europe) CHB A population of individuals living in the residential community at Beijing Normal University who were self-identified as having at least three out of four Han Chinese grandparents. Although individuals of Beijing Normal University were from many different parts of China, this set of samples was not drawn to be representative of all Han Chinese people. The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Han Chinese in Beijing, China JPT A population in the Tokyo metropolitan area, with people who came from (or whose ancestors came from) many different parts of Japan. Thus, this population can be viewed as representative of the majority population in Japan. The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Japanese in Tokyo, Japan YRI A particular community in Ibadan, Nigeria, with individuals who identified themselves as having four Yoruba grandparents. The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Yoruba in Ibadan, Nigeria ASW The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Population with african ancestry in Southwest USA CHD The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Chinese in Metropolitan Denver, Colorado GIH The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Gujarati Indians in Houston, Texas LWK The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Luhya in Webuye, Kenya MXL The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Population with mexican ancestry in Los Angeles, California MKK The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Maasai in Kinyawa, Kenya TSI The genetic characteristics of this population were described by the HapMap project and are used as a reference for other genetic studies. Toscani in Italia July 2003 human reference sequence (NCBI Build 34) May 2004 human reference sequence (NCBI Build 35) March 2006 human reference sequence (NCBI Build 36.1) February 2009 human reference sequence (GRCh37) 1.0.2 has role Christi Denney Colin Batchelor Elgar Pichler Joanne Luciano Julia Kozlovsky M. Scott Marshall Matthias Samwald Michel Dumontier Susie Stephens Trish Whetzel The Translational Medicine Ontology (TMO) is a high-level, patient-centric ontology that extends existing domain ontologies to integrate data across aspects of drug discovery and clinical practice. The ontology has been developed by participants in the World Wide Web Consortium’s Semantic Web for Health Care and Life Sciences Interest Group. W3C Health Care and Life Sciences Interest Group Creative Commons - By Attribution ontology, translational medicine, personalized medicine, life sciences, health care Translational Medicine Ontology Further information can be found in the publication "The Translational Medicine Ontology and Knowledge Base: driving personalized medicine by bridging the gap between bench and bedside", published in the Journal of Biomedical Semantics: http://www.jbiomedsem.com/content/2/S2/S1 1.0.2