Biology: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.
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
- ↑ 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. PMID 22080554.
- ↑ Osborne, John D; Flatow, Jared; Holko, Michelle; Lin, Simon M; Kibbe, Warren A; Zhu, Lihua (Julie); Danila, Maria I; Feng, Gang et al. (Jul 7, 2009). "Annotating the human genome with Disease Ontology.". BMC Genomics 10 (Suppl 1): S6. doi:10.1186/1471-2164-10-s1-s6. PMID 19594883.
- ↑ Kibbe, Warren A.; Arze, Cesar; Felix, Victor; Mitraka, Elvira; Bolton, Evan; Fu, Gang; Mungall, Christopher J.; Binder, Janos X. et al. (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. PMID 25348409.
External links
![]() | Original source: https://en.wikipedia.org/wiki/Disease Ontology.
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