| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage thzat are visible radiographically. (Human Phenotype Ontology, HP_0012313) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0012313 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the heberden's node phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| COL2A1 | collagen, type II, alpha 1 |
