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neurogenomics / HPOExplorer

Functions for working with the Human Phenotype Ontology data
https://neurogenomics.github.io/HPOExplorer/
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Map disease IDs to names #31

Closed bschilder closed 12 months ago

bschilder commented 1 year ago

Some disease IDs (the DatabaseID/LinkID column, depending on the HPO file) do not include definitions. I'll need to find a comprehensive mapping of these disease IDs for OMIM, DECIPHER and Orphanet.

bschilder commented 12 months ago

disease_name seems to be fixed in the latest releases of HPO:

> dat <- load_phenotype_to_genes(3)
> dat[is.na(disease_name)]
Empty data.table (0 rows and 12 cols): disease_id,disease_name,qualifier,hpo_id,reference,evidence...
> dat[disease_name==""]
Empty data.table (0 rows and 12 cols): disease_id,disease_name,qualifier,hpo_id,reference,evidence...

I've requested additional info like Disease description and cross-ontology ID mappings: