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Following a user support email:
We link ENSG00000196365 to Orphanet_2332 as can be seen here
https://www.targetvalidation.org/evidence/ENSG00000196365/Orphanet_2332
The papers reported in the p…
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Ontology is not loading when attempting to annotate
The server is responding with an http 500 error:
The url it is attempting to reach is:
The url of the page generating the error is:
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When I search OLS, limited to DO, for "pancreatic squamous cell carcinoma," I get an HP term, "Pancreatic squamous cell carcinoma" (HP_0012142). Yes, that's an unexpected result, but there is no DO t…
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New term request: eosinaphilic gastritis. Synonyms: \
Definition: \
Source: \
Parent: \
Disease association: eosinaphilic gastrointestinal disease
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To do:
- [x] Create EFO:NEW 'intestinal disease' and map it to MONDO:0005020 'intestinal disease'
Subclass of 'digestive system disease'
"A disease that affects the small or large intestine."
MO…
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Allow annotation of variants. Should behave similar to a sequence alteration, but with much additional data added to the schema based on information from the variant.
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@CuzickA
The "conditions ontology" used with individual phenotype ontologies is configurable
as soon as this is available (even a mini-version) use at import to test
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More neurodegenerative diseases are being requested at EFO. Need to ensure that terms are created properly and duplications/wrong classification don't get in.
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Steatosis is a biological process. But it seems that it is not a normal process. So it should not be included in GO?
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It seems we still have quite a few orphan MeSH terms that need proper type assignment and/or implementation in MONDO or HPO.
Can we use the MEDIC file to assist with this?
@cmungall @tudorgroza if y…