The Disease Ontology (DO) is a formal

ontology In metaphysics, ontology is the philosophical study of being, as well as related concepts such as existence, becoming, and reality. Ontology addresses questions like how entities are grouped into categories and which of these entities exi ...

of human

disease A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...

. Th
Disease Ontology project
is hosted at th
Institute for Genome Sciences
at the

University of Maryland School of Medicine The University of Maryland School of Medicine (abbreviated UMSOM), located in Baltimore City, Maryland, U.S., is the medical school of the University of Maryland, Baltimore and is affiliated with the University of Maryland Medical Center and Medi ...

. The Disease Ontology project was initially developed in 2003 at

Northwestern University Northwestern University is a private research university in Evanston, Illinois. Founded in 1851, Northwestern is the oldest chartered university in Illinois and is ranked among the most prestigious academic institutions in the world. Charte ...

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 identifie
DOID:10652
DO is cross-referenced in several resources such as

UniProt UniProt is a freely accessible database of protein sequence and functional information, many entries being derived from genome sequencing projects. It contains a large amount of information about the biological function of proteins derived from ...

Example term

The Disease Ontology entry for

motor neuron disease Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most comm ...

in OBO format is given below, showing the links to other classification schemes, including

ICD-9 The International Classification of Diseases (ICD) is a globally used diagnostic tool for epidemiology, health management and clinical purposes. The ICD is maintained by the World Health Organization (WHO), which is the directing and coordinatin ...

, ICD-10,

MeSH A mesh is a barrier made of connected strands of metal, fiber, or other flexible or ductile materials. A mesh is similar to a web or a net in that it has many attached or woven strands. Types * A plastic mesh may be extruded, oriented, exp ...

SNOMED The Systematized Nomenclature of Medicine (SNOMED) is a systematic, computer-processable collection of medical terms, in human and veterinary medicine, to provide codes, terms, synonyms and definitions which cover anatomy, diseases, findings, pr ...

and

UMLS The Unified Medical Language System (UMLS) is a compendium of many controlled vocabularies in the biomedical sciences (created 1986). It provides a mapping structure among these vocabularies and thus allows one to translate among the various termi ...

. :id: DOID:231 :name: motor neuron disease :def: "A neurodegenerative disease that is located_in the motor neurones."

Motor neuron disease Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most comm ...

: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

References

{{reflist

External links

Disease Ontology web interface

DO Wiki

sourceforge SVN trunk

DO request tracker

OBO Foundry
Ontology (information science) Biological databases Medical databases

Example term

See also

References

External links