Jules Jacobsen
Jules Jacobsen
Fixed in commit [3a7b1ec](https://github.com/exomiser/Exomiser/commit/3a7b1ec1001a4812427f178faf92473f2e3ae99b)
no response...
Closing due to lack of response.
Duplicated in #457
Closing due to lack of response.
Closing due to lack of response
Requires #373 Will also need changes to : [ ] disease_hp table schema, [ ] disease DAO [ ] disease model [ ] update to `Sample` to include `Age`/`Onset`, `PhenotypicFeature`...
@damiansm There is [ClinGen](https://search.clinicalgenome.org/kb/gene-validity?page=1&size=25&search=) and [TheGenCC](https://search.thegencc.org/) which could fulfill this criteria, assuming we used the 'definitive' associations. This would require a database change to store the data and some means...
Good to know they have the original OMIM ID in there as that will be really useful. The next question is what classification to use when there are conflicts between...
The issue is the Orphanet *only* assert `Supporting`, ClinGen assert the full range and *only* use MONDO identifiers. PanelApp (GEL & Aus) use mostly OMIM identifiers for original submissions, but...