| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene. (Human Disease Ontology, DOID_1858) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0010735 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the polyostotic fibrous dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| GNAS | GNAS complex locus |
