-
Hello, I visited the Monarch website for gene AP1G1 https://monarchinitiative.org/gene/HGNC:555#phenotype and I see only some EFO phenotypes being reported.
I would assume to find HPO phenotypes re…
-
We currently provide a controlled vocabulary and should also include mappings from that vocabulary to concept codes where appropriate. We describe the use of multiple ontologies that are to be used:
…
-
@cmungall summarized the MONDO strategy re obsoletion of 'rare' terms:
"We obsoleted the ones for which there was a clear replacement, Rare X --> X, i.e. where we trivially shadow an existing class wi…
-
Would be nice for use in other projects, eg
https://github.com/2night/mondo/issues/5#issuecomment-257801329 which rolls its own BsonObject but there are other examples; having it split out would pre…
-
So we have a GWAS phenotype, which is "extreme obesity". In the database, we're making links to the MONDO disease 'obesity' but if we found e.g. from gwas catalog that there were variants for BMI or …
-
Let's build out the respective parts of Mondo according to
An international classification of inherited metabolic disorders (ICIMD)
https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12348
There…
-
OMIM includes some common diseases and MONDO's import of these entries needs to be reviewed.
From the curation call notes on 19 May 22:
If OMIM has a locus for a common disease, it should be a di…
-
For the **Study Features**, **Disease Terms**, **Gene Terms** and **Phenotype Terms** fields on the **Project** editor form we need to add URL links to the help text of the field, if this ontology liv…
-
Move to Dockerized for Kubernetes or use Amazon lambda.
-
## Sub-tasks
- [ ] 1. Instructions for pre-existing artefacts
- [ ] 2. Missing some setup steps
## 1. Instructions for pre-existing artefacts
There are 2 main types of ingests:
1. No consumabl…