How We Selected These Conditions
Every condition in this library was selected because we believe it is testable on the ABGC or ABMGG board exam. The library currently contains 316 conditions: 132 explicitly listed on the ABGC Self-Study Guide and 184 additional conditions relevant to the ABMGG General Exam. We refer to these as Tier 1 disorders: conditions that illustrate an underlying genetic principle, follow an important diagnostic workflow, or highlight an “exception to the rule,” making them highly suitable for multiple-choice questions.
Sources
Conditions were sourced from widely-used genetics textbooks and official exam resources, including:
- •Thompson & Thompson Genetics and Genomics in Medicine
- •Smith's Recognizable Patterns of Human Malformation
- •Harper's Practical Genetic Counselling
- •GeneReviews (NCBI)
- •ABGC Self-Study Guide (2025)
- •ABMGG Content Outlines & Blueprints and Learning Guides
- •ACMG Practice Guidelines and Position Statements
- •CCMG Genetic Conditions List (2017 PDF)
What Makes a Condition Testable
Conditions in this library meet some or all of the following criteria:
| Criterion | What makes it testable |
|---|---|
| Disease Mechanism | Unique or well-understood inheritance pattern; “exceptions to the rule” |
| Guidelines & Management | Screening or surveillance available; established treatment |
| Diagnosis | Established diagnostic criteria, diagnostic algorithms, or specialized testing (e.g., enzyme activity) |
| Features | Unique or distinguishing findings on physical exam, labs, or imaging |
| Year of Discovery | Discovered prior to sequencing of the human genome |
ABGC Self-Study Guide
132 conditions are explicitly listed on the official ABGC Self-Study Guide and are marked with an ABGC badge throughout the library. The remaining 184 conditions are included because they appear in major genetics textbooks, are relevant to the ABMGG General Exam, or illustrate important genetic principles tested on board exams.
What's Not Included
This list focuses on monogenic and chromosomal disorders with an identifiable genetic basis. It excludes many polygenic conditions, multifactorial traits, and teratogens. Disorders are listed once within a single category, though many could be placed in multiple categories.
ABMGG subspecialty exams (e.g., biochemical genetics) may test disorders beyond those included here. This library is currently focused on the ABMGG General Exam and ABGC Exam, and subspecialty-specific content has not yet been incorporated.
Feedback
Have a suggestion for a condition to include or exclude? Please email library@studyrare.com, or use the form below.