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In the alpha medikanren instance, that pulls in monarch lite, they are lacking phenotypes for many types of diabetes, including for example MODY11
But we definitely have these:
https://monarchinit…
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**Describe the bug**
When calling the cli to get a graph-summary of of the `ensembl.ttl` file (or others) from monarch, it throws a `KeyError: 'OBAN'`
**To Reproduce**
```
wget https://data.mo…
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**Describe the bug**
ClinGenKB links to HOMER gene instead of GATA2.
**To Reproduce**
Steps to reproduce the behavior including URLs. e.g.
1. Go to https://variantgrid.com/classification/classificati…
sksmi updated
4 years ago
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I thought this was just an instance of an unresolvable IRI, but ontobee doesn't even seem to have an ontology with the prefix DC; it isn't familiar to me. Nor does a search for Renotubular in Ontobee …
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sideroblastic anemia MONDO:0015194 is defined as 'inherited or acquired', yet has an XRef to https://www.omim.org/phenotypicSeries/PS300751 which is clearly the genetic subset
1. What is the term in …
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**Mondo term (ID and Label)**
MONDO_0007521 : egasyn
MONDO:0012424: heat-shock RNA 1
MONDO:0007149: arbitrary restriction polymorphism 1
MONDO:0008126: oncogene Yuasa
**Suggested revision o…
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@ielis didn't you need to implement your own version of a BreakendVariant? This would have been useful right?
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When using phenol as a library, this seems to get introduced as an additional dependency
```
Exception in thread "main" java.lang.NoClassDefFoundError: org/yaml/snakeyaml/Yaml
at org.monarchinitia…
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@deepakunni3 is reporting that the KGX ingest found 161 OMIM ids that are both diseases and genes:
[errant-omim.txt](https://github.com/monarch-initiative/dipper/files/5172205/errant-omim.txt)
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```
dc:description a owl:AnnotationProperty,
owl:DatatypeProperty .
```
You cannot be an annotation and a data property at once!
Using this file: https://archive.monarchinitiative.org…