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Ingest to capture Alliance [gene/allele/genotype] to disease associations. We can expect this ingest to have a lot of associations that we don't want to bring into Monarch, for example, one of the val…
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## Overview
I found one instance where there is an association with multiple mapping keys in `morbidmap.txt`.
```tsv
Phenotype Gene Symbols MIM Number Cyto Location
Neurodevelopmental disorder w…
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The following properties are used wrongly:
http://purl.obolibrary.org/obo/RO_0002200
http://purl.obolibrary.org/obo/RO_0002525
http://purl.obolibrary.org/obo/RO_0003303
You are using them as _…
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Hello,
A new creation request, in this case following a call to the Romande helpline concerning a 6-year-old child being followed up in Paris.
References:
- PMID: 30500825 - “Hiatt et al. (2018…
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in the dataset description, add some kind of citation relationship, that lists the appropriate info. see http://omim.org/help/faq
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Dear all,
A Spanish coder has suggested we link the OMIM [614742](https://omim.org/entry/614742) "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1" to [ORPHA:2032](https:…
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DO switched to using "MIM" prefixes instead of "OMIM" prefixes. We need to review how this change will affect Mondo ingest (and Mondo in general).
One aspect that will be affected is the exact lex…
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Action items:
- [ ] 1. most OMIM synonyms should be exact (not related)
- [ ] 2. most NCIT and GARD syns should be exact too
I think we could do this:
1) change all OMIM synonyms from related t…
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Hi! I apologize for maybe not being using the right form for the request (currently in Brazil). I noticed that you have WARS2-related combined oxidative phosphorylation defect and neurodevelopmental…
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Not sure if this is possible but would there be any possibility in relaxing the need for hyphens in searches for matching disease term labels?
E.g. if I'm looking for septo-optic dysplasia HPOA re…