|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
2 genes associated with the diaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.