| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. (Human Phenotype Ontology, HP_0007695) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0007695 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the abnormal pupillary light reflex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| SH3TC2 | SH3 domain and tetratricopeptide repeats 2 |
