HPO gene panels section should provide more information

Description

Improvements to the HPO gene panels section that Care4Rare is interested in:

  • display warnings for non-standard terms (which thus, won't have
    associated genes)

  • display warnings for standard terms without any associated genes (and
    potentially the option to bump them up to the next-more-general term which
    has associated genes to make them useful by making use of the HPO structure)

Question: Would addition of the number of associated genes displayed next to phenotypes be useful? We can also sort standard HPO terms so the one with most genes are displayed first + free text at the end of the list.

Something like this:


Long nose(5)__________Bicoronal synostosis(3)____________Hypotelorism (0)___________ Free text(0)

Environment

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Activity

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Orion Buske
March 6, 2018, 4:58 PM

Your suggestions seem great to me, especially if that's pretty easy to do! I think that showing the number of genes, sorting by that in descending order, and then displaying a icon for nonstandard terms is 95% of the issue and should be phase 1, and released first. Phase 2 would be figuring out what the UI should be (if any) to bump up standardized terms with zero associated genes to ancestors with at least one associated gene, and Kristin is the contact on that feature request.

Assignee

Unassigned

Reporter

Orion Buske

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External issue ID

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Epic Link

Fix versions

Priority

Medium