The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts.

Prefix

doid

Preferred Prefix

DOID

Alternative Prefixes

do

Keywords

biomedical science classification disease disease phenotype disease process modeling genetic disorder human infection life science mental health obo ontology

Version

2024-08-29

License

CC0-1.0

Links

Homepage Repository OBO OWL OBO JSON

Contact

Lynn Schriml   0000-0001-8910-9851   lschriml

Pattern for Local Unique Identifiers

Local identifiers in Human Disease Ontology should match this regular expression:
^\d+$

Example Local Unique Identifier

0110974   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from Human Disease Ontology should match this regular expression:
^DOID:\d+$

Example CURIE

DOID:0110974

MIRIAM Namespace Embedded in LUI

The legacy MIRIAM standard for generating CURIEs with this resource annotates the namespaceEmbeddedInLUI as true. This means that you may see local unique identifiers that include a redundant prefix and delimiter (also known as a banana) and therefore look like a CURIE. For Human Disease Ontology, the banana looks like DOID:. Therefore, you may see local unique identifiers for this resource that look like DOID:0110974 (instead of the canonical form 0110974) and CURIEs for this resource that look like DOID:DOID:0110974 (instead of the canonical form DOID:0110974). The Bioregistry will automatically strip off the banana when standardizing local unique identifiers and CURIEs.

Publications

• 2023 The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem
• 2022 The Human Disease Ontology 2022 update
• 2021 COVID-19 biomarkers and their overlap with comorbidities in a disease biomarker data model
• 2020 Wikidata as a knowledge graph for the life sciences
• 2019 ECO, the Evidence & Conclusion Ontology: community standard for evidence information
• 2019 Human Disease Ontology 2018 update: classification, content and workflow expansion
• 2018 Disease Ontology: improving and unifying disease annotations across species
• 2016 Wikidata as a semantic framework for the Gene Wiki initiative
• 2015 The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
• 2015 The Disease Ontology: fostering interoperability between biological and clinical human disease-related data
• 2015 Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis
• 2014 Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
• 2011 Disease Ontology: a backbone for disease semantic integration
• 2009 Annotating the human genome with Disease Ontology
• 2009 From disease ontology to disease-ontology lite: statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations

A summary of the relations in the Bioregistry schema can be found here.

Appears In (2) (bioregistry.schema:0000018 )

CLO SCDO

In Collection

ASKEM Epidemiology Prefixes

The metaregistry provides mappings between the Bioregistry and other registries. There are 14 mappings to external registries for this resource with 6 unique external prefixes.

When using this resource in RDF, the following URI format should be used:

http://purl.obolibrary.org/obo/DOID_$1

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier 0110974 is used to demonstrate the providers available for Human Disease Ontology. A guide for curating additional providers can be found here.

Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.