| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. (Human Disease Ontology, DOID_4997) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0100252 |
| Similar Terms | |
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2 genes associated with the diaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
