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Disease Ontology (DO) Nosology Program

The Nosology training program is coordinated by the Human Disease Ontology (DO) Knowlegebase project (https://disease-ontology.org/), hosted at the University of Maryland School of Medicine, Institute for Genome Sciences, led by the DO’s Clinical Leaders (Dr. Carol Greene (Pediatrics), Dr. Rima Koka (Pathology), Dr. Richard Lichenstein (Emergency Medicine, Pediatrics), Katharine Bisordi, MS, MGC (Genetic Counselor, Obstetrics, Gynecology and Reproductive Sciences)) and DO’s PI (Lynn M. Schriml, Ph.D.) at the Institute for Genome Sciences.

The Nosology training program will utilize the Human Disease Ontology as a resource for structuring the review and highlighting the complexity of disease nosology. One of the advantages of the DO’s structured knowledge is that it can be utilized as a teaching tool.

Program Objectives

A mentored, multidisciplinary, educational project designed to:

  • Advance cross-disciplinary nosology knowledge
  • Gain new perspectives on the classification of complex diseases
  • Enhance trainee and mentor appreciation and understanding of the nuances and complexities of diseasenosology
  • Improve entries (disease descriptions) in the Disease Ontology as the result of clinically-led, structured review
  • Utilize the DO as a resource for structuring the review and
  • Highlighting the complexity of disease nosology

GOAL: To establish a nosology clinical training program, across the UMB professional schools, to augment clinical nosology education and to expand awareness of the Human Disease Ontology across disciplines.

Mentor-Mentee teams:

The Mentor-Mentee teams will meet for 1 to 2 hours monthly for up to three months, to:

  1. select a disease to review;
  2. review the current DO classification;
  3. discuss nosology challenges and
  4. provide their classification recommendations.

The DO’s Clinical Leaders will review and submit the classification recommendations for integration into the Disease Ontology.

The trainees will enhance the DO, through their mentored review of one or more complex diseases, and their contribution of current clinical points of view.

Round 1 (Spring semester 2025:)

Mentors Mentees
Mentor 1
  • Mentee 1
  • Mentee 2
  • Mentee 3
Mentor 2
  • Mentee 1
  • Mentee 2
  • Mentee 3

Outline/Process of Team Project

  1. Choose a disease to review
  2. Identify additional factors involved with the disease, such as related diseases, synonyms, nomenclature changes, infectious agents, genetic, behavioral and/or environmental factors
    • This will involve literature review, Google searchers, and reading through authoritative resources
    • see DO’s Nosology Catalog
  3. Should additional disease subtypes be added to the DO?
  4. Report on the disease nosology review

In recognition of your efforts, mentors and trainees will be:

  • Co-authors in the DO’s bi-annual project publication;
  • with your names and ORCID IDs included in the DO’s Registry of Contributors DO-KB (Disease Ontology Knowledgebase) website and in DO social media postings.
  • Enhancing faculty CV and teaching portfolio
  • Novel networking opportunities across campus

Nosology Resource Catalog

https://docs.google.com/document/d/13ZUV24DHBTtG33TXlNC0iICWuDOnG385Yb_oiO855Ko/edit

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