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**Mondo term (ID and Label)**
congenital myasthenic syndrome 12 (MONDO:0012518)
Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the…
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**Mondo term (ID and Label)**
'Human prion disease' (MONDO:0018926)
**Reason for deprecation**
these terms represent the same concept
**Term to be merged with**
'prion disease' (MONDO:0005429…
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| | |
|------------------|-----------------|
|Previous ID | SR-9551 |
|Radar | None |
|Original Reporter | @palimondo …
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See the list here: https://www.ncbi.nlm.nih.gov/clinvar/submitters/505999/
This may require coordination with UDP/UDN and/or medGen.
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**Describe the bug**
The metrics for the upcoming release show we have 19,000 more evidence marked as duplicate compared to 24.03. This has made us look at them more closely, to identify that we are …
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Please see MONDO ticket: https://github.com/monarch-initiative/mondo/issues/528
We plan to obsolete 'degenerative disorder' in MONDO.
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The make goal build-mondo-ingest should execute absolutely all relevant pipelines:
1. exclusions
1. mappings and matching (@hrshdhgd)
1. slurping (@joeflack4)
1. syncing
1. Progress monitor
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**Mondo term (ID and Label)**
progressive external ophthalmoplegia (MONDO:0005181)
is not a descendant of
MONDO:0003425 | ophthalmoplegia
**Suggested revision and reasons**
**Your nano-at…
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I am wondering about https://github.com/tis-lab/closed-illustrations/blob/master/LICENSE.md.
As you can see [here](https://github.com/mapping-commons/sssom/pull/367#issuecomment-2168733284), these …
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**What**: A list of Mondo terms that MedGen is suggesting may be candidates for obsoletion.
**Why**: Some Mondo terms have x-refs to only obsolete terms in another ontology (OrphaNet, DOID, GARD) or …