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I see from https://github.com/monarch-initiative/mondo/issues/1756 that the decision was to treat MONDO:0013517 'beta-thalassemia HBB/LCRB' equivalent to SCDO:0000251 [Clinical Phenotype of Beta Thala…
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### Context
- [X] This issue is not a bug report. *(please use a different template for reporting a bug)*
- [X] This issue is not a duplicate of an existing issue. *(please use the [search](https:…
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The [if-elseif logic for api-response-transform](https://github.com/biothings/api-respone-transform.js/blob/d6723f5164f039ba427e6408a5afd1438e244435/src/index.ts#L25) seems somewhat confusing, obsolet…
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FYI: @selewis
Each phenotype has associated variants from SciGraph, in addition to Gene location. We would like to load a "gene" via a &select tag and then dynamically insert the variants. @nlwas…
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In order to have external groups such as ClinGen and others to revise branches in Mondo, we should have a basic SOP. Here is a first draft we should flesh out: https://docs.google.com/document/d/1T4pp…
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[//]: # (REMBEMBER! Add links to things related to the bug using for example:)
[//]: # (https://www.wowhead.com/wotlk)
**Description:**
I have added a meta gem to my head gear but it does nothi…
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from https://github.com/monarch-initiative/mondo-ingest/blob/main/src/ontology/lexmatch/unmapped_ncit_lex.tsv
subject_id | subject_label | predicate_id | object_id | object_label | mapping_justific…
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We have a lot of model data relevant to the Illuminating the druggable genome project.
See: The human genome and drug discovery after a decade. Roads (still) not taken
http://arxiv.org/abs/1102.0448
a…
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My basic example only accounted for the syntax of the file I had in from of me at the time. The grammar, of course, includes the definitions of all the syntax it produces, but I find it hard to reason…
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This does most of what we set out to do with this repo and more: https://github.com/bioregistry/bioregistry
There are still some things this repo does that bioregistry doesn't do, but these could p…