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Disease Ontology (DO)

@diseaseontology.bsky.social
119 followers 35 following 117 posts

Unifying and standardizing disease data across the biomedical research ecosystem. 🔬 Supporting research, precision medicine & data integration. 📍 @genomescience.bsky.social at @umbaltimore.bsky.social 🔗 disease-ontology.org

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Disease Ontology (DO) @diseaseontology.bsky.social · 30/09/2026
A new release of the Human Disease Ontology (v2026-09-30) is available, including 12,335 diseases. github.com/DiseaseOntol... #DiseaseResearch #DiseaseOntology #Bioinformatics #Biocuration #FAIR #ComputationalBiology
github.com
Release Disease Ontology v2026-09-30 · DiseaseOntology/HumanDiseaseOntology
This release of the Human Disease Ontology includes 12,335 disease classes, 10,065 with textual definitions (81.6%). Translation files include 11,813 labels, 11,456 synonyms, and 6,567 definitions ...
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Disease Ontology (DO) @diseaseontology.bsky.social · 16/09/2026
disease-ontology.org has been updated, highlighting more than 200 contributors and 500 resources that have used the Disease Ontology!! disease-ontology.org/outreach/con... disease-ontology.org/outreach/use... #FAIR #SemanticWeb #OpenData
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Disease Ontology (DO) @diseaseontology.bsky.social · 11/09/2026
A new release of the Human Disease Ontology (v2026-08-31) is available, including 12,282 diseases. github.com/DiseaseOntol... #DiseaseResearch #DiseaseOntology #Bioinformatics #Biocuration #FAIR #ComputationalBiology
github.com
Release Disease Ontology v2026-08-31 · DiseaseOntology/HumanDiseaseOntology
This August 2026 release of the Human Disease Ontology includes 12,282 disease classes, 10,010 with textual definitions (81.5%). With 736 Equivalent and 9,699 SubClassOf Axioms. Translation files i...
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Disease Ontology (DO) @diseaseontology.bsky.social · 04/08/2026
A new release of the Human Disease Ontology (v2026-07-31) is now available, including 12,247 diseases. github.com/DiseaseOntol... #DiseaseResearch #DiseaseOntology #Bioinformatics #Biocuration #FAIR #ComputationalBiology
github.com
Releases · DiseaseOntology/HumanDiseaseOntology
Repository for the Human Disease Ontology. Contribute to DiseaseOntology/HumanDiseaseOntology development by creating an account on GitHub.
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Disease Ontology (DO) @diseaseontology.bsky.social · 31/07/2026
A new release of the Symptom Ontology (v2026-07-30) is now available with 895 symptoms 🎉 github.com/DiseaseOntol... ❗️NOTE that OBO and JSON file formats have been updated as described for the Disease Ontology: bsky.app/profile/dise... #SymptomOntology #bioinformatics #symptoms
github.com
Release Symptom Ontology v2026-07-30 · DiseaseOntology/SymptomOntology
This release of the Symptom Ontology includes 895 classes, 424 with textual definitions (47.4%), with the addition of tenderness. Full Changelog: v2024-05-17...v2026-07-30
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Disease Ontology (DO) @diseaseontology.bsky.social · 21/07/2026
‼️ Just a reminder that the DO July release (toward the end of the month) will be built with ROBOT 1.9.10 which will introduce some changes to OBO and JSON formatted production files. Please test beforehand if you use these files and let us know if you have any issues. #DiseaseOntology #OBO #JSON
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Disease Ontology (DO) @diseaseontology.bsky.social · 14/05/2026
🚨 The Disease Ontology is upgrading production file software in July 2026, resulting in changes to OBO & obographs JSON files (hopefully not breaking🤞)! Test release (equivalent to v2026-04-30): github.com/DiseaseOntol... Details: github.com/DiseaseOntol... #DiseaseOntology #OBO #Bioinformatics
github.com
GitHub - DiseaseOntology/HumanDiseaseOntology at robot_1.9.10_test_release
Repository for the Human Disease Ontology. Contribute to DiseaseOntology/HumanDiseaseOntology development by creating an account on GitHub.
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Disease Ontology (DO) @diseaseontology.bsky.social · 23/04/2026
Join our public Slack channel Sign up here, from any device: join.slack.com/t/humandisea...
join.slack.com
Slack
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Disease Ontology (DO) @diseaseontology.bsky.social · 22/04/2026
Join the Disease Ontology team this Thursday (4/23) at the ISB Biocuration Conference in Cape Town! 🧬 DO session on: “Exploring disease drivers in the Human Disease Ontology Knowledgebase” 📎 Learn more: figshare.com/articles/pre...
figshare.com
Exploring disease drivers in the Human Disease Ontology Knowledgebase
Presentation for the 19th Biocuration meeting, April 2026.
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Disease Ontology (DO) @diseaseontology.bsky.social · 13/04/2026
The Disease Ontology's website updates are live 🎉 New in DO browser: -We added copiable PURLS to every disease entry -We updated searches to accept all characters -We expanded the relations in the advanced search -We fixed a number of bugs in the page, search, and trees
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Disease Ontology (DO) @diseaseontology.bsky.social · 01/04/2026
The Disease Ontology's March release is now available 🎉 Learn about the Disease Ontology's 12,079 disease classes and latest updates at github.com/DiseaseOntol... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
github.com
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Disease Ontology (DO) @diseaseontology.bsky.social · 27/03/2026
Discover how the Disease Ontology is driving new research! 🧬 Tool: KMGTMDA 🧠 Learn: "KMGTMDA: KAN-driven multiscale graph neural network and context-enhanced prediction for human microbe-disease associations" at pubmed.ncbi.nlm.nih.gov/41698566/
pubmed.ncbi.nlm.nih.gov
KMGTMDA: KAN-driven multiscale graph neural network and context-enhanced prediction for human microbe-disease associations - PubMed
This approach efficiently reveals potential associations between human microbes and diseases through multi-scale dynamic topological graph neural networks and feature context learning. It provides more effective guidance for interpreting disease pathogenesis and designing targeted treatment strategi …
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Disease Ontology (DO) @diseaseontology.bsky.social · 20/03/2026
Discover how the Disease Ontology is driving new research! 📎 Featured tool: theRNA 🧠 Learn: "theRNA: a curated knowledgebase of functional RNA therapeutics spanning diverse modalities and disease applications." at pubmed.ncbi.nlm.nih.gov/41171135/
pubmed.ncbi.nlm.nih.gov
theRNA: a curated knowledgebase of functional RNA therapeutics spanning diverse modalities and disease applications - PubMed
RNA therapeutics are transforming precision medicine, yet a dedicated resource for validated agents has been lacking. Here, we introduce theRNA (https://therna.renlab.cn/), the first comprehensive database of 6860 experimentally validated RNA therapeutics targeting 1310 diseases in human or animal m …
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Disease Ontology (DO) @diseaseontology.bsky.social · 02/03/2026
The Disease Ontology's February release is now available 🎉 Learn about the Disease Ontology's 12,021 disease classes and latest updates at github.com/DiseaseOntol... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
github.com
Release DO February 2026 Release · DiseaseOntology/HumanDiseaseOntology
This release of the Human Disease Ontology includes 12,021 disease classes, 9,737 with textual definitions (81.0%). Translation files now include 11,848 labels (98.6%), 11,477 synonyms (59.0%), and...
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Disease Ontology (DO) @diseaseontology.bsky.social · 27/02/2026
The Disease Ontology Team is looking forward to attending and presenting at NIH's #RareDiseaseDay 2026 🧬 @altnih4science.bsky.social @rarediseaseday.bsky.social
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Disease Ontology (DO) @diseaseontology.bsky.social · 20/02/2026
Learn about the Disease Ontology's Nosology program on it's newest youtube video: www.youtube.com/playlist?lis... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
youtube.com
Human Disease Nosology - YouTube
Disease Ontology (DO) Nosology Program https://www.disease-ontology.org/resources/nosology/ The Nosology training program is coordinated by the Human Disease...
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Disease Ontology (DO) @diseaseontology.bsky.social · 13/02/2026
We are looking forward to the International Biocuration Conference 2026 🧬 @intbioconf2026.bsky.social @biocurator.bsky.social www.linkedin.com/posts/intern...
linkedin.com
#biocuration2026 #biocuration2026 #biocuration2026 #ibc2026 #africa… | International Biocuration Conference 2026
Announcing Our Scientific Committee – #Biocuration2026 We are proud to introduce the Scientific Committee for the 19th Annual International Biocuration Conference, taking place in Cape Town, South Afr...
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Disease Ontology (DO) @diseaseontology.bsky.social · 06/02/2026
Discover how the Disease Ontology is driving new research! 🧠 Learn: "Cell Marker Accordion: interpretable single-cell and spatial omics annotation in health and disease" at pubmed.ncbi.nlm.nih.gov/40623970/ 📊 Explore more DO powered research at github.com/DiseaseOntol...
sciencedirect.com
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Disease Ontology (DO) @diseaseontology.bsky.social · 03/02/2026
The Disease Ontology's early February release is now available 🎉 Learn about the Disease Ontology's 12,012 disease classes and latest updates at github.com/DiseaseOntol... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
github.com
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Disease Ontology (DO) @diseaseontology.bsky.social · 30/01/2026
Discover how the Disease Ontology is driving new research! 🧠 Learn: "From digits towards digitization: the past, present, and future of traditional Chinese medicine" at www.sciencedirect.com/science/arti... 📊 Explore more DO powered research at github.com/DiseaseOntol...
pmc.ncbi.nlm.nih.gov
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Disease Ontology (DO) @diseaseontology.bsky.social · 23/01/2026
The Disease Ontology website update is now available! Learn how the DO is currently used by the research community with updated usage statistics and explore the latest ontology file and class trees available which represent more than 12,000 diseases.
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Disease Ontology (DO) @diseaseontology.bsky.social · 23/01/2026
Discover how the Disease Ontology is driving research! 🧬 Tool: BioMedGraphica 📊 "BioMedGraphica: An All-in-One Platform for Joint Textual Biomedical Prior Knowledge and Numeric Graph Generation" at pmc.ncbi.nlm.nih.gov/articles/PMC...
pmc.ncbi.nlm.nih.gov
BioMedGraphica: An All-in-One Platform for Joint Textual Biomedical Prior Knowledge and Numeric Graph Generation
Multi-omic data analysis is essential for scientific discovery in precision medicine. However, translating statistical results of omic data analysis into novel scientific hypothesis remains a significant challenge. Human experts must manually review ...
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Disease Ontology (DO) @diseaseontology.bsky.social · 16/01/2026
Discover how the Disease Ontology is driving new research! 🔍: "Understanding Cancer Survivorship Care Needs Using Amazon Reviews: Content Analysis, Algorithm Development, and Validation Study." at pmc.ncbi.nlm.nih.gov/articles/PMC... @mcwlliamssbmi.bsky.social
pmc.ncbi.nlm.nih.gov
Understanding Cancer Survivorship Care Needs Using Amazon Reviews: Content Analysis, Algorithm Development, and Validation Study
Complementary therapies are being increasingly used by cancer survivors. As a channel for customers to share their feelings, outcomes, and perceived knowledge about the products purchased from e-commerce platforms, Amazon consumer reviews are a ...
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Disease Ontology (DO) @diseaseontology.bsky.social · 09/01/2026
Discover how the Disease Ontology is driving new research! 🔍 Featured tool: PlateletBase. 🧠 Learn: "PlateletBase: A Comprehensive Knowledgebase for Platelet Research and Disease Insights" at pmc.ncbi.nlm.nih.gov/articles/PMC... 📊 Explore more DO-powered research at github.com/DiseaseOntol...
github.com
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Disease Ontology (DO) @diseaseontology.bsky.social · 02/01/2026
Wishing you a happy and healthy New Year from the Disease Ontology team 🎉
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Disease Ontology (DO) @diseaseontology.bsky.social · 11/12/2025
The DO-KB API /info, /terms, /terms/label, and /search endpoints can now accept and return Spanish disease terminology. To use Spanish pass the Spanish language tag (es) in as the value for the lang parameter (e.g. api.disease-ontology.org/v1/terms/lab...).
api.disease-ontology.org
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Disease Ontology (DO) @diseaseontology.bsky.social · 09/12/2025
The Disease Ontology Winter 2025 Newsletter is now available 🎉 ➡️ figshare.com/articles/med... #DiseaseResearch #Bioinformatics #FAIR #ComputationalBiology #SemanticWeb
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Disease Ontology (DO) @diseaseontology.bsky.social · 02/12/2025
The Disease Ontology's new paper "The DO-KB knowledgebase 2026 update: expanding programmatic and language access" is now available 🎉 pubmed.ncbi.nlm.nih.gov/41296549/ @narjournal.bsky.social #DiseaseResearch #Bioinformatics #FAIR #ComputationalBiology
pubmed.ncbi.nlm.nih.gov
The DO-KB knowledgebase 2026 update: expanding programmatic and language access - PubMed
The Human Disease Ontology Knowledgebase (DO-KB; https://disease-ontology.org/), a Global Core Biodata Resource, serves as a reference framework for multiscale biomedical data integration and analysis, within a unifying etiology-based disease classification. In this 2026 update of the Human Disease …
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Disease Ontology (DO) @diseaseontology.bsky.social · 26/11/2025
The Disease Ontology's November release is now available 🎉 Learn about the Disease Ontology's 11,997 disease classes and their spanish translations at github.com/DiseaseOntol... Happy Thanksgiving! 🦃🍂 #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
github.com
Release DO November 2025 Release · DiseaseOntology/HumanDiseaseOntology
This release of the Human Disease Ontology includes 11,997 disease classes, 9,713 with textual definitions (81.0%). Translation files now include 11,824 labels (98.6%), 11,483 synonyms (59.1%), and...
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Disease Ontology (DO) @diseaseontology.bsky.social · 20/11/2025
100 days to #RareDiseaseDay! The Disease Ontology improves global access to rare disease knowledge and enables better data extraction, integration and discovery for all stakeholders. #showyourstripes @rarediseaseday.bsky.social
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Disease Ontology (DO) @diseaseontology.bsky.social · 14/11/2025
Discover how the Disease Ontology is driving research! 🔍 Tool: Editome Disease Knowledgebase- ngdc.cncb.ac.cn/edk/ 🧠 "Editome Disease Knowledgebase v2.0: an updated resource of editome–disease associations through literature curation and integrative analysis" at academic.oup.com/bioinformati...
github.com
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Disease Ontology (DO) @diseaseontology.bsky.social · 07/11/2025
The Disease Ontology website release is now available! 🎉 What's new: -Updated data from the most recent October 2025 DO release -Newly added federated SPARQL queries for expanded data exploration -Access to materials from the DO-designed and sponsored Nosology Course
disease-ontology.org
Disease Ontology - Institute for Genome Sciences @ University of Maryland
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Disease Ontology (DO) @diseaseontology.bsky.social · 07/11/2025
The DO Team is looking forward to the 16th International Conference on Biological and Biomedical Ontology (#ICBO2025), just days away 🎉 #DiseaseResearch #Bioinformatics #FAIR #ComputationalBiology
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Disease Ontology (DO) @diseaseontology.bsky.social · 03/11/2025
The Disease Ontology's October release is now available 🎉 Learn about the Disease Ontology's 11,985 disease classes and latest updates at github.com/DiseaseOntol... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
github.com
Release DO October 2025 Release · DiseaseOntology/HumanDiseaseOntology
This release of the Human Disease Ontology includes 11,985 disease classes, 9,698 with textual definitions (80.9%). Translation files now include 11,582 labels (96.6%), 11,490 synonyms (59.2%), and...
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Disease Ontology (DO) @diseaseontology.bsky.social · 24/10/2025
Discover how the Disease Ontology is driving new research! 🔍 Featured tool: Tagger - github.com/larsjuhljens... 🧠 Learn: "Improving dictionary-based named entity recognition with deep learning" at pubmed.ncbi.nlm.nih.gov/39230709/ 📊 Explore more DO-powered research at github.com/DiseaseOntol...
github.com
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Disease Ontology (DO) @diseaseontology.bsky.social · 16/10/2025
🔬Join Lynn Schriml for a talk on "Disease Etiology Research to Enhance Knowledge Graph Reasoning and to Improve Our Understanding and Representation of Disease Features, Mechanisms and Nosology" 🗓️Wednesday, Oct 22, 2025 🕕12:00 PM EST 📍 Zoom: umaryland.zoom.us/j/9205863532...
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Disease Ontology (DO) @diseaseontology.bsky.social · 10/10/2025
📌 Highlighting: HERB 2.0: an updated database integrating clinical and experimental evidence for traditional Chinese medicine 📄 Read the paper: pubmed.ncbi.nlm.nih.gov/39558177/ 📊 See more DO-powered research at github.com/DiseaseOntol...
academic.oup.com
Validate User
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Disease Ontology (DO) @diseaseontology.bsky.social · 03/10/2025
📌 Highlighting: LSD600: the first corpus of biomedical abstracts annotated with lifestyle–disease relations 📄 Read the paper: academic.oup.com/database/art... 📊 See more DO-powered research at github.com/DiseaseOntol...
academic.oup.com
LSD600: the first corpus of biomedical abstracts annotated with lifestyle–disease relations
Abstract. Lifestyle factors (LSFs) are increasingly recognized as instrumental in both the development and control of diseases. Despite their importance, t
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Disease Ontology (DO) @diseaseontology.bsky.social · 30/09/2025
The Disease Ontology's September release is now available 🎉 Learn about the Disease Ontology's 11,953 disease classes and latest updates at github.com/DiseaseOntol... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
github.com
Release DO September 2025 Release · DiseaseOntology/HumanDiseaseOntology
This release of the Human Disease Ontology includes 11,953 disease classes, 9,656 with textual definitions (80.8%). Translation files now include 11,275 labels (94.3%), 11,495 synonyms (59.2%), and...
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Disease Ontology (DO) @diseaseontology.bsky.social · 26/09/2025
📌 Highlighting: metaCDA: A Novel Framework for CircRNA-Driven Drug Discovery Utilizing Adaptive Aggregation and Meta-Knowledge Learning 📄 Read the paper: pubmed.ncbi.nlm.nih.gov/39937612/ 📊 See more DO-powered research at github.com/DiseaseOntol...
pubmed.ncbi.nlm.nih.gov
metaCDA: A Novel Framework for CircRNA-Driven Drug Discovery Utilizing Adaptive Aggregation and Meta-Knowledge Learning - PubMed
In the emerging field of RNA drugs, circular RNA (circRNA) has attracted much attention as a novel multifunctional therapeutic target. Delving deeper into the intricate interactions between circRNA an...
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Disease Ontology (DO) @diseaseontology.bsky.social · 19/09/2025
📌 Highlighting: PubMed knowledge graph 2.0 📄 Read the paper: pubmed.ncbi.nlm.nih.gov/40527887/ 📊 See more DO-powered research at github.com/DiseaseOntol... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
pubmed.ncbi.nlm.nih.gov
PubMed knowledge graph 2.0: Connecting papers, patents, and clinical trials in biomedical science - PubMed
Papers, patents, and clinical trials are essential scientific resources in biomedicine, crucial for knowledge sharing and dissemination. However, these documents are often stored in disparate database...
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Disease Ontology (DO) @diseaseontology.bsky.social · 05/09/2025
📌 Highlighting: MFF-nDA: A Computational Model for ncRNA-Disease Association Prediction Based on Multimodule Fusion 📄 Read the paper: pubmed.ncbi.nlm.nih.gov/40129032/ 📊 See more DO-powered research at github.com/DiseaseOntol...
pubmed.ncbi.nlm.nih.gov
MFF-nDA: A Computational Model for ncRNA-Disease Association Prediction Based on Multimodule Fusion - PubMed
Noncoding RNAs(ncRNAs), including piwi-interacting RNA(piRNA), long noncoding RNA(lncRNA), microRNA(miRNA), small nucleolar RNA(snoRNA), and circular RNA(circRNA), contribute significantly to gene exp...
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Disease Ontology (DO) @diseaseontology.bsky.social · 03/09/2025
The Disease Ontology website release is now available! 🎉 New additions: 1. DO Translation Page: showcases the process of translating the DO into Spanish and includes new Spanish DO resources.
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Disease Ontology (DO) @diseaseontology.bsky.social · 29/08/2025
The Disease Ontology's August release is now available 🎉 Learn about the Disease Ontology's 11,946 disease classes and latest updates at github.com/DiseaseOntol... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
github.com
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Disease Ontology (DO) @diseaseontology.bsky.social · 15/08/2025
📌 Highlighting: VarGuideAtlas, a repository of variant interpretation guidelines. 🔗 Explore VarGuideAtlas: genomics-hub.pros.dsic.upv.es:3016 📄 Read the paper: pubmed.ncbi.nlm.nih.gov/40067792 📊 See more DO powered research at github.com/DiseaseOntol...
genomics-hub.pros.dsic.upv.es
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Disease Ontology (DO) @diseaseontology.bsky.social · 04/08/2025
The Disease Ontology's July release is now available 🎉 Learn about the Disease Ontology's 11,926 disease classes and latest updates at github.com/DiseaseOntol... #DiseaseResearch #Biocuration #Bioinformatics #FAIR #ComputationalBiology
github.com
Release DO July 2025 Release (slightly delayed) · DiseaseOntology/HumanDiseaseOntology
This release of the Human Disease Ontology includes 11,926 disease classes, 9,619 with textual definitions (80.7%). Diseases revised and expanded include hereditary spastic paraplegias, cherubisms,...
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Disease Ontology (DO) @diseaseontology.bsky.social · 01/08/2025
The Disease Ontology had a successful presence at #ISMBECCB2025! Thank you to everyone who attended DO’s talk and took part in the ELIXIR–NIH Office of Data Science Strategy track. See you next time 🧬 www.linkedin.com/posts/elixir...
linkedin.com
🙌Thank you for joining the ELIXIR- NIH Office of Data Science Strategy track programme and chatting with us at the ELIXIR booth at #ISMBECCB2025! | ELIXIR
🙌Thank you for joining the ELIXIR- NIH Office of Data Science Strategy track programme and chatting with us at the ELIXIR booth at #ISMBECCB2025! ✨ Our session yesterday covered #ontology and knowled...
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Disease Ontology (DO) @diseaseontology.bsky.social · 22/07/2025
We're looking forward to Lynn Schriml’s talk tomorrow at #ISMB2025: “Disease Ontology Knowledgebase: A Global BioData Hub for FAIR Disease Data Discovery” 🗓️ Wednesday, July 23 🕚 11:20 AM 📍 Room 12 at Liverpool Convention Centre figshare.com/articles/pre...
figshare.com
ISMB NIH-ELIXIR session: Disease Ontology Knowledgebase: A Global BioData hub for FAIR disease data discovery.
Development of long-term biodata resources, by design, depends on a stable data model with persistent identifiers, regular data releases, and reliable responsiveness to ongoing community needs. Addres...
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Disease Ontology (DO) @diseaseontology.bsky.social · 21/07/2025
🎥 Learn about the Spanish translation of the Human Disease Ontology in our latest YouTube video! 🧬🇪🇸 🔗 Watch at: youtu.be/mfg42Vc0Vn4?... #DiseaseData #FAIR #Bioinformatics #ComputationalBiology #OpenScience
youtu.be
The Spanish Translation of the Disease Ontology
YouTube video by Disease Ontology
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Disease Ontology (DO) @diseaseontology.bsky.social · 18/07/2025
Join Lynn Schriml’s talk, “Disease Ontology Knowledgebase: A Global BioData Hub for FAIR Disease Data Discovery,” on Wednesday, July 23 at 11:20 AM in Room 12. We look forward to seeing you there! figshare.com/articles/pre... www.iscb.org/ismbeccb2025...
figshare.com
ISMB NIH-ELIXIR session: Disease Ontology Knowledgebase: A Global BioData hub for FAIR disease data discovery.
Development of long-term biodata resources, by design, depends on a stable data model with persistent identifiers, regular data releases, and reliable responsiveness to ongoing community needs. Addres...
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