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PI4KA-Related Disorder
Synonyms: None
Parent Terms: MONDO:0030831, MONDO:0020340, MONDO:0015150
Definition:
Per GeneReviews PI4KA-related disorder is a clinically variable disorder character…
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**Mondo term (ID and Label)**
MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes
**Reason for deprecation**
OMIM 242870 i…
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## Overview
I noticed that there are no labels for OMIMPs entries in `mondo.sssom.tsv`.
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OMIM has 'included' entries in their records, which are properly distinct diseases and should be added separately to Mondo.
Per our conversation on the technical call on 11/18/22:
- we should parc…
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## Overview
We created `sssom_to_robot_template.py` in `mondo-ingest` in https://github.com/monarch-initiative/mondo-ingest/pull/521, but we want its home to be in `mondolib`.
## Implementation
A…
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**Mondo term (ID and Label):**
MONDO:0042605 Y chromosome infertility due to DAZ1 deletion
**Suggested new label:**
Y chromosome infertility
**Your nano-attribution (ORCID)**
If you don't have…
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## Overview
We have been discussing this recently. There seems to be some duplication of efforts between the OMIM ingests [used by `mondo-ingest`](https://github.com/monarch-initiative/omim) and [use…
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**Mondo term (ID and Label)**
MONDO:0015985 bone dysplasia, Azouz type
**Reason for deprecation**
The SNOMED CT entry in UMLS is now showing as obsolete; the GARD page shows as "under developmen…
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@kanems we were hoping of directly important the MESH mappings from MedGen into Mondo, but it seems that they are not _exact_ in the strict sense.
Here are some examples provided by @twhetzel. A c…
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### Label
infectious disease with sepsis
### Synonyms
_No response_
### Synonym type
None
### Definition
An infection involving a dysregulated host response causing life-threatening organ dysf…