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- gene-disease annotations should be only for terms defined by the gene causing the disease (e.g ~type1; ...)
- these annotations should come from OMIM only
- the annotation should be brought in ONL…
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At @related-sciences, we created a Python library called [nxontology](https://github.com/related-sciences/nxontology) for computing intrinsic semantic similarity between pairs of nodes in an ontology.…
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If a non-existent disease is requested - http://localhost:8080/disease/OMIM_1993, for example - empty pages with no data are returned, with no indication that the disease does not exist. Expect simila…
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I can't remember if this was discussed before, and I can't find relevant tickets or emails. It looks like full axioms for UBERON terms are not visible in OLS. E.g. the OLS entry for MONDO:0005071 'ner…
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# Background and discussion
_ontology-mondo.jsonl_ data file is collected by PIS following [this](https://github.com/opentargets/platform-input-support/blob/150bde8f6ed472d1e3c01a8eb22ee2c6b43e92d2/c…
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**Mondo term (ID and Label)**
MONDO_0000153: transposition of great arteries
has a child
MONDO:0019443: dextro-looped transposition of the great arteries
which has a child
MONDO:0012128: transpos…
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### Introduction
The HEAL program includes hundreds of projects generating highly diverse data sets.
RTI and RENCI, the **HEAL Stewards**, will
* Use semantic knowledge graphs to link data fro…
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Noting this https://documentation.uts.nlm.nih.gov/automating-downloads.html
an automated way to obtain UMLS mappings through the API.
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**Mondo term (ID and Label)**
MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
**Reason for deprecation**
Appears to be the same concept as OMIM:616843…
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There are a number of existing slots/mixins/classes relating to - broadly speaking - phenotypic frequency. Recent discussions suggest room for improvement in their definition, structure and relationsh…