| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. (Human Phenotype Ontology, HP_0004099) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0004099 |
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6 genes associated with the macrodactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.