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As decided I am sending several issues in one template: (please let Sabrina know about these requests and let me know if you rather have me sending individual requests)
1. Issue request: Add synony…
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A recent study identified a syndromic neurodevelopmental disorder that may be caused by mutations in the ATG4D gene that needs to be added to the DO. This disease doesn't appear to have a name yet. It…
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'autoinflammatory disease' has been suggested as a grouping term in multiple prior issues and has not been addressed directly. There are a number of immune system diseases that might be re-classified …
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### Is there an existing issue for this?
- [X] I have searched the existing issues
### Tested Build
1599
### Android Version
12
### SoC type
Snapdragon
### Device GSMArena link
https://www.go…
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# Question
_Down's syndrome is a genetic disorder caused by an extra chromosome 21 or a part of chromosome 21 being translocated to another chromosome. The incidence of Down's syndrome is highly de…
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Sometimes it's a simple dis that makes your day.
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As part of the Variant Page effort, we have discussed to start developing the first two widgets (sample data has been shared on slack):
- [x] ClinVar
```
{
"alleleOrigins": [
"germli…
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As part of our process of expanding beyond just the COVID-19 topic, it would be good to look at how we could integrate into syndromic surveillance systems, which involves dealing with PHINMS, and send…
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Syndromes which share the same names should be re-named with unique descriptions.
For example, interaction_biology.txt has sets of ' Biology Interaction' syndromes, which should be re-named to identi…
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Hi!
I noticed that you have the following terms as synonyms of Bosma Arhinia Microphthalmia Syndrome. You may consider on grouping all these three terms together.
- **arhinia, choanal atres…