Disease Ontology (DO)
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diseaseontology.bsky.social
Disease Ontology (DO)
@diseaseontology.bsky.social
77 followers 30 following 72 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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diseaseontology.bsky.social
Disease Ontology (DO) @diseaseontology.bsky.social · Apr 15
We are looking forward to continuing our commitment to advancing disease knowledge and exploring the ideas and collaborations from the conference.

We're already counting down the days until Biocuration 2026 in Cape Town 🧬

#Biocuration2025
@biocurator.bsky.social
@stowersinstitute.bsky.social
diseaseontology.bsky.social
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
November 14, 2025 at 8:57 PM
diseaseontology.bsky.social
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 - Institute for Genome Sciences @ University of Maryland
disease-ontology.org
November 7, 2025 at 8:24 PM
diseaseontology.bsky.social
The DO Team is looking forward to the 16th International Conference on Biological and Biomedical Ontology (#ICBO2025), just days away 🎉

#DiseaseResearch #Bioinformatics #FAIR #ComputationalBiology
November 7, 2025 at 8:12 PM
diseaseontology.bsky.social
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
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...
github.com
November 3, 2025 at 3:41 PM
diseaseontology.bsky.social
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
October 24, 2025 at 2:47 PM
diseaseontology.bsky.social
🔬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...
October 16, 2025 at 3:26 PM
diseaseontology.bsky.social
📌 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...
Validate User
academic.oup.com
October 10, 2025 at 4:05 PM
diseaseontology.bsky.social
📌 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...
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
academic.oup.com
October 3, 2025 at 7:36 PM
diseaseontology.bsky.social
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
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...
github.com
September 30, 2025 at 8:23 PM
diseaseontology.bsky.social
📌 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...
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...
pubmed.ncbi.nlm.nih.gov
September 26, 2025 at 4:31 PM
diseaseontology.bsky.social
📌 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 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...
pubmed.ncbi.nlm.nih.gov
September 19, 2025 at 6:06 PM
diseaseontology.bsky.social
📌 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...
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...
pubmed.ncbi.nlm.nih.gov
September 5, 2025 at 6:03 PM
diseaseontology.bsky.social
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.
September 3, 2025 at 4:58 PM
diseaseontology.bsky.social
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
August 29, 2025 at 6:56 PM
diseaseontology.bsky.social
📌 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
August 15, 2025 at 4:52 PM
diseaseontology.bsky.social
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
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,...
github.com
August 4, 2025 at 3:27 PM
diseaseontology.bsky.social
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...
🙌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...
www.linkedin.com
August 1, 2025 at 4:13 PM
diseaseontology.bsky.social
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...
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...
figshare.com
July 22, 2025 at 3:45 PM
diseaseontology.bsky.social
🎥 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
The Spanish Translation of the Disease Ontology
YouTube video by Disease Ontology
youtu.be
July 21, 2025 at 3:35 PM
diseaseontology.bsky.social
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...
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...
figshare.com
July 18, 2025 at 3:44 PM
diseaseontology.bsky.social
The Disease Ontology's June release is now available 🎉

Learn about the Disease Ontology's 11,895 disease classes and latest updates at github.com/DiseaseOntol...

#DOrelease #DiseaseResearch #Bioinformatics #FAIR #ComputationalBiology #SemanticWeb
Release DO June 2025 Release · DiseaseOntology/HumanDiseaseOntology
This release of the Human Disease Ontology includes 11,895 disease classes, 9,585 with textual definitions (80.6%). Terms with Spanish translation have increased to include 10,837 labels (91.1%), 1...
github.com
June 30, 2025 at 3:15 PM
diseaseontology.bsky.social
The Disease Ontology taking on MetaSUB's Global City Sampling Day in Baltimore 🚇🦠

We're thrilled of our continued contribution to the global map of the urban microbiome, alongside other scientists in this global endeavor!

#GlobalCitySamplingDay #UrbanMicrobiome #gcsd
June 20, 2025 at 8:14 PM
diseaseontology.bsky.social
Recent publication "Core reference ontology for individualized exercise prescription" highlights the Disease Ontology's impact on 'Exercise is Medicine'.

🔗Take a read at:
pubmed.ncbi.nlm.nih.gov/39695140/

#DiseaseResearch #Bioinformatics #FAIR
Core reference ontology for individualized exercise prescription - PubMed
"Exercise is medicine" emphasizes personalized prescriptions for better efficacy. Current guidelines need more support for personalized prescriptions, posing scientific challenges. Facing those challe...
pubmed.ncbi.nlm.nih.gov
June 13, 2025 at 2:05 AM
diseaseontology.bsky.social
🧬 This quarter, more than 19 new resources have integrated the Disease Ontology, with 110 new DO citations added to literature 🔬

The DO is powering cutting-edge biomedical knowledge graphs.
June 6, 2025 at 8:05 PM
diseaseontology.bsky.social
The May Disease Ontology release is now available 🎉

Learn about the Disease Ontology's 11,883 disease classes and latest updates at github.com/DiseaseOntol...

#DOrelease #DiseaseResearch #Bioinformatics #FAIR #ComputationalBiology #SemanticWeb
Release DO May 2025 Release · DiseaseOntology/HumanDiseaseOntology
This release of the Human Disease Ontology includes 11,883 disease classes, 9,573 with textual definitions (80.6%). Terms with Spanish translation have increased to include 10,652 labels (89.6%), 1...
github.com
May 30, 2025 at 7:39 PM