Disease Ontology

The Disease Ontology (DO) is a formal ontology of human disease.^[1]^[2]^[3] The Disease Ontology project is hosted at the Institute for Genome Sciences at the University of Maryland School of Medicine.

The Disease Ontology project was initially developed in 2003 at Northwestern University to address the need for a purpose-built ontology that covers the full spectrum of disease concepts annotated within biomedical repositories within an ontological framework that is extensible to meet community needs.

The Disease Ontology is an OBO (Open Biomedical Ontologies) Foundry ontology.

Disease Ontology Identifiers (DOIDs) consist of the prefix DOID: followed by number, for example, Alzheimer's disease has the stable identifier DOID:10652. DO is cross-referenced in several resources such as UniProt.

^ Schriml, Lynn Marie; Arze, Cesar; Nadendla, Suvama; Chang, Yu-Wei Wayne; Mazaitis, Mark; Felix, Victor; Feng, Gang; Kibbe, Warren Alden (Jan 2012). "Disease Ontology: a backbone for disease semantic integration". Nucleic Acids Research. 40 (Database issue): D940–D946. doi:10.1093/nar/gkr972. PMC 3245088. PMID 22080554.
^ Osborne, John D; Flatow, Jared; Holko, Michelle; Lin, Simon M; Kibbe, Warren A; Zhu, Lihua (Julie); Danila, Maria I; Feng, Gang; Chisholm, Rex L (Jul 7, 2009). "Annotating the human genome with Disease Ontology". BMC Genomics. 10 (Suppl 1): S6. doi:10.1186/1471-2164-10-s1-s6. PMC 2709267. PMID 19594883.
^ Kibbe, Warren A.; Arze, Cesar; Felix, Victor; Mitraka, Elvira; Bolton, Evan; Fu, Gang; Mungall, Christopher J.; Binder, Janos X.; Malone, James; Vasant, Drashtti; Parkinson, Helen; Schriml, Lynn M. (Jan 2015). "Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data". Nucleic Acids Research. 43 (Database issue): D1071–D1078. doi:10.1093/nar/gku1011. PMC 4383880. PMID 25348409.

[1] Schriml, Lynn Marie; Arze, Cesar; Nadendla, Suvama; Chang, Yu-Wei Wayne; Mazaitis, Mark; Felix, Victor; Feng, Gang; Kibbe, Warren Alden (Jan 2012). "Disease Ontology: a backbone for disease semantic integration". Nucleic Acids Research. 40 (Database issue): D940–D946. doi:10.1093/nar/gkr972. PMC 3245088. PMID 22080554.

[2] Osborne, John D; Flatow, Jared; Holko, Michelle; Lin, Simon M; Kibbe, Warren A; Zhu, Lihua (Julie); Danila, Maria I; Feng, Gang; Chisholm, Rex L (Jul 7, 2009). "Annotating the human genome with Disease Ontology". BMC Genomics. 10 (Suppl 1): S6. doi:10.1186/1471-2164-10-s1-s6. PMC 2709267. PMID 19594883.

[3] Kibbe, Warren A.; Arze, Cesar; Felix, Victor; Mitraka, Elvira; Bolton, Evan; Fu, Gang; Mungall, Christopher J.; Binder, Janos X.; Malone, James; Vasant, Drashtti; Parkinson, Helen; Schriml, Lynn M. (Jan 2015). "Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data". Nucleic Acids Research. 43 (Database issue): D1071–D1078. doi:10.1093/nar/gku1011. PMC 4383880. PMID 25348409.

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