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Example on http://neo4j.monarchinitiative.org/
```
MATCH path=(subclass:disease)(superclass:disease)
WHERE subclass.label='Smith-Lemli-Opitz syndrome'
RETURN DISTINCT path,
subc…
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## TLDR: Desired features
- [ ] Distinguish "disease" and "disease group" (in both autocomplete and search)
- [ ] Boost ranking of disease groups
- [ ] Introduce breadcrumbs
## Backstory:
I was s…
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Hi Pheval authors
Recently I've seen your paper in Researchgate and I'm very interested so I gave a try. Following the instructions here https://monarch-initiative.github.io/pheval/exomiser_pipeline …
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The modelling discussed in #1 could be improved. As suggested by @nlwashington, here is another way to model these relationships:
```
Monarch:DiseaseID is an OWL Class
Monarch:Disease rdfs:l…
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- [ ] Create a table
- [x] All matches: For this one, we want general feedback, false assumptions and suggestions (do not spend more than 30 mins)
- [ ] Table with just ORDO matches that ar…
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The condition listed in MONDO: Weiss-Kruszka Syndrome MONDO:0032836 has exact match
https://omim.org/entry/618619 with dbxref OMIM:618619. It is not currently tagged as rare in MONDO but it is a ra…
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Hi Sabrina! Following your suggestions I included several issues in the same document for this week:
**Duplicated term**
“Weiss-kruszka syndrome” MONDO:0032836 is duplicated with “metopic ridg…
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http://www.obofoundry.org/ontology/mondo.html
http://biorxiv.org/content/early/2016/05/18/048843
goodb updated
5 years ago
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The current is_biomarker relationship is almost always picking out items that are not biomarkers for the disease. Can we consider renaming the relation type to something that is less committal.
* c…
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We need to create some mondo subset files for use in KGs along the following lines:
- Rare disease subset
- Rare disease subset with leaf nodes representing variants in same gene rolled up to pare…