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Looking at how we are capturing 'susceptibility' aka genetic risk factors in the DO.
We annotate the OMIM susceptibility terms with 'contributes to condition'
On the DO website, these annotatio…
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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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In OMIM records you can see the links to Orphanet and other mappings. It would be good to review these for equivalency and inclusion in Mondo. Conversely, we should put the Mondo links on the OMIM pag…
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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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The condition listed in MONDO: Weiss-Kruszka Syndrome MONDO:0032836 has exact match
https://omim.org/entry/618619 with dbxref OMIM:618619. It is not currently tagged as rare in MONDO but it is a ra…
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Dear all,
Regarding ORPHA ORPHA:374 [Goldenhar syndrome](https://www.orpha.net/en/disease/detail/374), the disease has been excluded from the Orphanet nomenclature of rare diseases and moved to ORP…
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1-Create Iran_East.mwm with Iran_East.osm and ./generate_mwm.sh
> BORDERS_PATH=/path/to/polygons omim/tools/unix/generate_mwm.sh Iran_East.osm any_random_string_asdf
is ok
Bicycles and pedestr…
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Blazegraph skips my association number 88, 89 and 93. The omim number and wd are correct so I don't know why they are not in my query list.
```turtle
wd:Q422488 a chebi:25367 ; rdfs:label "2'-deo…
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Include:
- new disease terms or updates to DO's disease terms
there is a group of disorders termed 'RNA exosomopathies', which arise from pathogenic variants in RNA exosome genes
- include the…
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For example:
```MATCH (n{id:'OMIM:154700'})-[edge]-() return COUNT(edge) limit 10```
we discussed on the 10/1 monarch data call but wanted to track progress here