Dataset | HPO Gene-Disease Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. (Human Phenotype Ontology, HP_0012426) |
External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0012426 |
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2 genes associated with the optic disc drusen phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.