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.

This article is about a specific disease ontology project. For the nature of disease generally, see Disease.

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.

Example term

The Disease Ontology entry for motor neuron disease in OBO format is given below, showing the links to other classification schemes, including ICD-9, ICD-10, MeSH, SNOMED and UMLS.

id: DOID:231
name: motor neuron disease
def: "A neurodegenerative disease that is located_in the motor neurones." Motor neuron disease
xref: ICD10CM:G12.2
xref: ICD10CM:G12.20
xref: ICD9CM:335.2
xref: MSH:D016472
xref: SNOMEDCT_US_2016_03_01:155015007
xref: SNOMEDCT_US_2016_03_01:192888001
xref: SNOMEDCT_US_2016_03_01:192889009
xref: SNOMEDCT_US_2016_03_01:192890000
xref: SNOMEDCT_US_2016_03_01:37340000
xref: UMLS_CUI:C0085084
is_a: DOID:1289 ! neurodegenerative disease

See also

References
  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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