Create a rare disease list available as a tsv.

[sabrinatoro]

Multiple users have requested a list of rare diseases that is a simple list, as they are not technically adapted to use the .json file.

REQUEST:
Create a tsv with the list of rare diseases. This tsv should include

• Mondo ID
• Mondo label
• rare disease tag (maybe one column per rare tag, such as "rare_nord", "rare_orphanet",etc, so one could filter the list using excel or sheets)

EXTRA-REQUEST:
Users would like to have "all" the information for the disease, ie the rare-subset but (1) without the classification, (2) in a format that technically adapted users can use.
We would need to look at requirements, but I think the following would be a good start

• tsv above, plus:
• exact synonyms
• equivalent x-ref
  (note: this file would be extremely big)

[sabrinatoro]

FYI: @matentzn @galyea123 (Gioconda, please tag Sean. Thank you)

[matentzn]

Do we really need another other than:

https://github.com/monarch-initiative/mondo/releases/download/v2025-01-07/mondo-rare_nodes.tsv

?

[galyea123]

[like] Gioconda Alyea reacted to your message:

…

________________________________ From: Sabrina Toro ***@***.***> Sent: Tuesday, January 21, 2025 5:24:44 PM To: monarch-initiative/mondo ***@***.***> Cc: Gioconda Alyea ***@***.***>; Mention ***@***.***> Subject: Re: [monarch-initiative/mondo] Create a rare disease list available as a tsv. (Issue #8620) FYI: @matentzn<https://github.com/matentzn> @galyea123<https://github.com/galyea123> (Gioconda, please tag Sean. Thank you) — Reply to this email directly, view it on GitHub<#8620 (comment)>, or unsubscribe<https://github.com/notifications/unsubscribe-auth/A4QAWDZ5DCABFBJDKLZQIH32LZ7FZAVCNFSM6AAAAABVTBBEE2VHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMZDMMBVGMZTGMRYG4>. You are receiving this because you were mentioned.Message ID: ***@***.***> Any review, use, distribution or disclosure by others is strictly prohibited.

[matentzn]

The only other feature I could imagine being useful is to reduce the list to clinically actionable disease, see for example #8459, and drop rare groupings.