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disgenet_info_filtered.pkl is a pickled pandas DataFrame containing disease descriptions sourced from:

  • UMLS
  • OrphaNet (via PrimeKG)
  • MONDO (via PrimeKG)

Columns are:

  • index - unique identifier for this disease / UMLS concept ID in the txPLM datasets
  • disgenet_id - UMLS ID
  • various columns named by the sources of the description
  • allDescriptions - concatenation of all descriptions in the other columns
  • numDescriptions - total number of unique free text descriptions for this concept ID

Descriptions are concatenated with the | symbol, both within one source in the case of multiple descriptions from one source, or across all sources in the allDescriptions column.

For more details, see the notebook at ../disgenet_curation.ipynb.