Canine Health / Genetics
Dog Disease and Genetic Variant Glossary
Alphabetical explanations linked directly from the Dog Breed Disease Predispositions reference.
How to use this glossary
A breed association is not a diagnosis and does not mean every dog of that breed will develop the condition. “Congenital” means present at birth or arising during development; it does not automatically mean inherited. A commercial DNA result is meaningful only for the exact variant tested and the breeds or ancestry in which that relationship has been validated.
Alphabetical sections
Genetic-test interpretation
- Autosomal recessive
- One copy usually indicates a carrier; two disease-associated copies usually indicate an at-risk genotype. Penetrance and breed validation still matter.
- Autosomal dominant
- One disease-associated copy may confer risk, but penetrance, age of onset and variable expression affect outcome.
- X-linked
- Sex and copy number change interpretation; males and females may have different risks.
- Risk or susceptibility marker
- A positive result changes probability but does not diagnose disease. Other genes, ancestry, conformation and environment may be important.
- Variant of uncertain significance
- The finding should not be used alone to diagnose disease or make irreversible breeding decisions.
- Phenotypic screening
- Many important breed-health tests—such as orthopedic, cardiac and ophthalmic examinations—evaluate the dog rather than a single DNA variant.
Evidence labels
Current OMIA phenotype/variant record matched indicates that the glossary term was reconciled with the current curated canine OMIA dataset. Direct source retained indicates that the entry has a specific cited source but remains dependent on that source’s breed and study scope. Historical attribution identifies a legacy breed-list entry for which the current page does not yet provide adequate independent evidence of inheritance; it must not be presented as a proven genetic disorder.