Welcome to orphanet-parser
A Python package for accessing versioned data from Orphanet in pandas data frame format. All data was obtained from the Orphadata_aggregated repository.
Currently only a subset of the Engligh-language data is supported.
Versions
We currently support all releases since December 2022. Versions are named by their month of release. The table shows the size of each dataset in different versions.
| Dataset | 2024-07 | 2023-12 | 2023-06 | 2022-12 |
|---|---|---|---|---|
| Phenotypes | 114,050 | 112,599 | 111,765 | 112,689 |
| Functional consequences | 34,904 | 34,938 | 34,670 | 33,926 |
| Gene associations | 8164 | 8351 | 8301 | 8248 |
| Prevalence | 15,982 | 15,982 | 15,978 | 15,916 |
| Natural history | 6872 | 6795 | 6638 | 6650 |
Future work
- Disorder classifications
- Linearization of disorders
- Ontologies