Need a modelling decision for susceptibility to x.

[siiraa]

ORDO uses predisposition to not susceptibility to. Investigate whether this term is used synonymously with susceptibility to in ORDO e.g. susceptibility to viral disease, and externally e/g/ in OMIM. This would allow us to map to OMIM perhaps for these loci. A set of syns for this (if correct) is useful

http://www.orpha.net/ORDO/Orphanet_140162 - Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

Should Inherited cancer-predisposing syndrome - be classified under neoplastic disease?

[siiraa]

Also from https://www.ebi.ac.uk/panda/jira/browse/FGPTO-831:

susceptibility to virus vs.viral disease - and other suspectibility terms from OMIM

Susceptibility to viral and mycobacterial infections

OMIM derived, is in ORDO. Decide if should be classified with viral disease.

Mesh has 'susceptibility to disease' term, though not under a disease parent, is a disease attribute.

[simonjupp]

Consult with MONDO/Phenotype wg on strategy for this.

[paolaroncaglia]

In reply to @simonjupp 's comment above ("Consult with MONDO/Phenotype wg on strategy for this"), 'susceptibility' terms are currently being discussed in MONDO, see https://github.com/monarch-initiative/mondo/issues/699.

[paolaroncaglia]

In particular, MONDO and HP will review a list of ~500 susceptibility terms (children of MONDO 'disease susceptibility') and may consider obsoleting them. We should keep an eye on that discussion as the MONDO 'disease susceptibility' node is now in EFO too. Plus, there are several EFO-only susceptibility terms, especially 'susceptibility to x measurement' terms. BTW,

• [x] fix typo in label of EFO:0007932 'mulitple keratinocyte carcinoma susceptibility measurement'
• [ ] Also, keep an eye on mappings between EFO diseases and non-EFO disease susceptibility/predisposition terms. E.g., EFO:0000249 Alzheimer's disease maps to (among others) to https://omim.org/entry/608907 ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9

(MONDO ticket is https://github.com/monarch-initiative/mondo/issues/699)

[ireneisdoomed]

Hello,

I have just noticed that the disease susceptibility branch (MONDO_0042489) is not part of the EFO OTAR profile. At the same time, there are many susceptibility terms spread all over the ontology (e.g. susceptibility to malaria as an inheritance of malaria).

Is there a plan to reallocate the terms under this branch under the respective parent IDs?

Many thanks!