Batch Orphanet X-refs request

[kanems]

Mondo term (ID and Label):
I found a few discrepancies in Orphanet ID mapping. Please let me know if the data below is unclear, but this seemed simpler than 4 different tickets for relatively straightforward X-ref updates.

Xref that should be fixed (ID and label):

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Orphanet ID	Current Mondo ID	Proposed new Mondo ID	Rationale
ORPHA1662	MONDO:0800042	MONDO:0031213	Orphanet maps to >1 OMIM #, should move to the parent rather than genetic subtype.
ORPHA2273	MONDO:0100213	MONDO:0100212	Orphanet maps to >1 OMIM #, should move to the parent rather than genetic subtype.
ORPHA275761	MONDO:0019149	MONDO:0800449	This refers to a 'continuum' of presentation, is a parent to 2 other Orpha IDs.
ORPHA75234	none?	MONDO:0019149	This is the correct Orpha ID for 'cholesteryl ester storage disease'

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Other comments:

[cmungall]

I'd do some label cleanup at the same time. E.g. MONDO:0100213 sounds a bit generic "IFAP syndrome with or without BRESHECK syndrome" (in fact the name is logically indistinguishable from the parent). This should be renamed to be consistent with the OMIM name "IFAP syndrome **1** with or without BRESHECK syndrome"

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On Thu, Jan 11, 2024 at 10:27 AM Megan S. Kane ***@***.***> wrote: *Mondo term (ID and Label):* I found a few discrepancies in Orphanet ID mapping. Please let me know if the data below is unclear, but this seemed simpler than 4 different tickets for relatively straightforward X-ref updates. *Xref that should be fixed (ID and label):* <style> </style> Orphanet ID Current Mondo ID Proposed new Mondo ID Rationale ORPHA1662 MONDO:0800042 MONDO:0031213 Orphanet maps to >1 OMIM #, should move to the parent rather than genetic subtype. ORPHA2273 MONDO:0100213 MONDO:0100212 Orphanet maps to >1 OMIM #, should move to the parent rather than genetic subtype. ORPHA275761 MONDO:0019149 MONDO:0800449 This refers to a 'continuum' of presentation, is a parent to 2 other Orpha IDs. ORPHA75234 none? MONDO:0019149 This is the correct Orpha ID for 'cholesteryl ester storage disease' *Your nano-attribution (ORCID)* If you don't have an ORCID, you can sign up for one here <https://orcid.org/> *Other comments:* — Reply to this email directly, view it on GitHub <#7116>, or unsubscribe <https://github.com/notifications/unsubscribe-auth/AAAMMOLUSVXLVLJCSGCBUFLYOAVI3AVCNFSM6AAAAABBW6EGD2VHI2DSMVQWIX3LMV43ASLTON2WKOZSGA3TOMZUGYYDCNA> . You are receiving this because you are subscribed to this thread.Message ID: ***@***.***>