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**Preferred term label:**
Catatonia
**Synonyms**
Catalepsy
**Definition (free text, please give PubMed ID)**
Neuropsychiatric syndrome associated with severe mental illness, commonly involvin…
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**Mondo term (ID and Label)**
MONDO:0957319, pseudohypoaldosteronism, type I
**Reason for deprecation**
I think these may be the same? The Orphanet mappings only partially overlap with the OMIM P…
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Hello @freeseek ,
Are indels left-shifted within gtc2vcf by default? If that is the case, is there any possibility to add a switch to override this and skip left-shifting the indels? I was under t…
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As part of the review of Mondo for the Synonym sync pipeline, the xrefs on synonyms in Mondo were reviewed and there are a handful of xrefs that have some typos/errors:
- [x] 189-text
- [x] 189427-d…
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**predicted protein descriptions:** compare the predicted protein descriptions for https://v2.mutalyzer.nl/name-checker?description=%09NM_001204398.1%3Ac.268_288dup and https://mutalyzer.nl/normalizer…
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Dear all,
A Spanish coder suggests the creation of a specific ORPHAcode for neurooculocardiogenitourinary syndrome (NOCGUS), a multisystem disorder characterized by poor growth and anomalies of th…
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Hi gzampieri
This is a great job and I'm interested to use this code in some projects but I have a few problems:
- The documentation makes reference to the script compute_kernel.py to perform the …
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I ran a diff between 2 MONDO files:
- PR: https://github.com/monarch-initiative/mondo/pull/8061/files
- [PR branch OBO](https://raw.githubusercontent.com/monarch-initiative/mondo/5fb8d6898b9d8baee…
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## Overview
We now have less DO mappings (+2177 -13,705) as of the last build (#556).
## Probable cause of issue
Following Nico's suspicion and Trish's [initial investigation](https://github.com/…