I noticed that on the website, the ICD-10 code for hypertension (https://platform.opentargets.org/disease/EFO_0000537/associations) appears to be incorrectly listed as O10. Shouldn’t it be I10 instead? (https://icd.who.int/browse10/2019/en#/I10)
I also saw that glaucoma doesn’t have an ICD-10 code listed on the site. Does each major disease have all the relevant ontology codes assigned to it?
Hi @nathand and welcome to our Community!
Good catch! Our disease annotations come from the Experimental Factor Ontology; we’ve notified their team about the issue. You can expect this issue to be resolved in our final release of the year. [Update] Request for update to hypertension · Issue #2482 · EBISPOT/efo · GitHub
Regarding EFO and ICD-10 coverage, please note that the overlap is currently quite limited. Only about 2,319 diseases in our dataset are linked to ICD-10 codes, which represents approximately 6% of all diseases covered. I don’t exactly know what you mean by “major diseases”, but overall, you should notice gaps if you’re specifically looking for ICD-10 mappings.
Let us know if you have more questions or suggestions!
Irene