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Currently this is in our data but goes uncategorized,
https://scigraph-data.monarchinitiative.org/scigraph/graph/Orphanet:98301
https://github.com/NCATS-Tangerine/kgx/issues/94
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Right now, using this pattern does not work:
```
pattern_name: dron_1
pattern_iri: http://purl.obolibrary.org/obo/dron/patterns/dron_1.yaml
classes:
scattered molecular aggregate: owl:Thing…
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@adityaekawade We should come up with better visualizations of gene lists and place to hold them. We should have some back and forth to come up with improvements.
One constraint is that we don't wa…
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- [x] need to update: http://obofoundry.org/ontology/mondo
- [x] put this in Changes.md and the release notes https://github.com/monarch-initiative/mondo/releases/tag/v2020-10-03
- [x] updating the …
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Is there any way to get out of a mondo code, a list of genes?
There is a call in the monarch API, but the result is too complex to extract a list of genes for each disease code.
It would also be…
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The ClinGen Peroxisomal disorders expert recommends renaming and reclassification of many Mondo terms in the peroxisomal disease (MONDO:0019053) hierarchy.
This will affect naming of some OMIM term…
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Investigate:
```
Running org.monarchinitiative.phenol.annotations.formats.hpo.category.HpoCategoryMapTest
Exception trying to find category for Very frequent
```
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(1)Provide a dropdown list of the most common and already curated HPO HPO IDs and the terminology(s) associated with each ID from Monarch Initiative into the HPO field for "group", "family", and "indi…
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There is one thing I stumbled across when incorporating this into Exomiser:
```java
@Test
public void emptyRegionUnknownChromosomeToOppositeStrand() {
GenomicRegion empty = GenomicRegion.zer…
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downloadLiftoverChainFiles leads to this error
```
java.net.MalformedURLException
at java.net.URL.(URL.java:644)
at java.net.URL.(URL.java:507)
at java.net.URL.(URL.java:456)
at org.monarc…