MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to & MONDO:0000093 [Merge]

[kanems]

Mondo term (ID and Label) MONDO:0000093 Schistosoma mansoni infection, susceptibility

Reason for deprecation I don't know if this susceptibility term is also needed in addition to the one from OMIM?

Term to be merged with MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here

(If this is not going to be merged, that's fine, but there is no UMLS concept for the 'susceptibility' concept on its own, so MedGen will have to use a CN CUI)

[katiermullen]

Discussed on medical experts call on 2024-05-23. Difficult for an ontology to have a term that is both a susceptibility and resistance. Recommend splitting the term into:

Schistosoma mansoni infection, susceptibility Schistosoma mansoni infection, resistance

With both terms referring to OMIM:181460.

Possible definitions: Schistosoma mansoni infection, susceptibility - Adults exposed to schistosomiasis remain susceptible to reinfection. PMID:12241930 Schistosoma mansoni infection, resistance - Adults exposed to schistosomiasis are resistant to reinfection. PMID:12241930

@sabrinatoro did I miss anything?

[sabrinatoro]

@katiermullen, I listened to the recording, and I agree with your assessment. We basically want to split the omim term. However, we cannot use the "MONDO:equivalentTo" source for both terms, since we would have 2 Mondo terms equivalent to 1 omim term (which is not allowed). In this case, the omim x-ref have "MONDO:mondoIsNarrowerThanSource"

@nicolevasilevsky can you please confirm that what I said is correct? Thank you!

[katiermullen]

Decision is to merge MONDO:0000093 Schistosoma mansoni infection, susceptibility into MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to.

Remove EC.

Definition: An inherited predisposition to schistosomiasis reinfection following initial infection. PMID:12241930