| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. (Human Phenotype Ontology, HP_0005203) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0005203 |
| Similar Terms | |
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1 genes associated with the spontaneous esophageal perforation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| COL7A1 | collagen, type VII, alpha 1 |
