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Maybe such a thing exists elsewhere, and I am sure you have already considered this.
It would be great if you could look at all the annotations in a graph view, with the nodes that are annotated ove…
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In Monarch app, we need some mechanism for users to comment on any given disease or phenotype ontology definition. At first this would just be for HPO and diseases. Perhaps add a button or link that s…
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We should try to avoid releasing Mondo with terms that have not been imported yet. If you look at the current release, you see at least 30 if not more classes without a classification and label (all g…
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ClinVar provides a Disease/trait database and identifier for each 'RCV', which is a collection of one or more 'SCV' each of which include a free text field with what the submitter indicated the disea…
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Hi! This condition is linked to OMIM 175780 (Brain small vessel disease with or without ocular anomalies). You list the following as synonyms:
- COL4A1-related brain small vessel disease with hemor…
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[UP-364](https://jira.hl7.org/browse/UP-364) and [UP-406](https://jira.hl7.org/browse/UP-406) have now been implemented! Once we confirm that everything looks as we expect, we should complete and subm…
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"Cancer" is logically defined as "neoplasm and ('has characteristic' some 'neoplastic, malignant')". "Brain cancer" is textually defined as "A primary or metastatic malignant neoplasm affecting the b…
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We need some documentation about how to interpret data on our site. This easily lends itself to a FAQ. I think the FAQ should be broken up into several parts based on the primary data that can be ex…
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**Context:** Our medical team found that specific grouping classes (also referred to as tags) are useful when analyzing the disease list downstream - they allow us to focus on specific diseases of in…
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## Overview
There is an OMIM [release artefact](https://github.com/monarch-initiative/omim/releases) `mondo_genes.csv`. It needs to be changed into a ROBOT template.
## Sub-tasks
### I. `omim` @j…