| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. (Human Phenotype Ontology, HP_0006456) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0006456 |
| Similar Terms | |
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1 genes associated with the irregular proximal tibial epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| COL11A1 | collagen, type XI, alpha 1 |
