Unexpected removal of UMLS refs about humandiseaseontology HOT 2 OPEN

Hi Dylan, @drobbarfield, thank you for your request on updating UMLS refs. We will review it and get back to you soon.

Best,
Claudia Marie Sánchez-Beato Johnson

from humandiseaseontology.

Thanks @drobbarfield for sharing these with us. DO's mappings to UMLS are primarily automated based on mappings from other vocabularies, such as MeSH and NCI. These don't always agree with one another. As I review various mappings, I'm going to add supporting notes for future reference.

The Lynch syndrome example probably lost the UMLS xref to Lynch syndrome because of complex and confusing mappings of UMLS to MeSH, NCI, and Orphanet... and lack of mappings to OMIM phenotypic series (or the DO). NCI and Orphanet have two distinct terms with a parent-child relationship that are using disease names which, in clinical practice, have mostly become synonymous (Lynch syndrome and HNPCC), while the MeSH term correctly has both names, but is linked to 4 separate UMLS entities. I'm adding back the lost UMLS mapping you shared and updating the current UMLS mappings to indicate they are actually broad matches and should not be included as xrefs.

from humandiseaseontology.