EN1-related dorsoventral syndrome #7574
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Dear @galyea123, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative! We have received your ticket and will review it as soon as possible. If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively. Thank you for your patience and for your contributions to Mondo! Sincerely, |
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might be solved by #7693 |
yshwetar
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Jul 29, 2024
Closes #7574 - Adds obsoleted term - Obsoleted input has pointer to new term - 1 Parent added - 2 Children added
sabrinatoro
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Aug 2, 2024
* Remove obsoletion of EN1-related dorsoventral syndrome Closes #7574 - Adds obsoleted term - Obsoleted input has pointer to new term - 1 Parent added - 2 Children added * Removed xref that the term has Removed Orphanet and GARD labels that the new term has, as they both can't have the same labels. * Additional features added - Added term tracker - Added synonym type property for abbreviation (2 terms) - Added definition with Orphanet label * Obsolete update Removed ordo disorder subset from obsolete term * Abbreviation update Switched annotation tag for abbreviation from synonym type property to has synonym type * updated the GH link the link to GH was added to the wrong term --------- Co-authored-by: Sabrina Toro <[email protected]>
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Hi! EN1-related dorsoventral syndrome was obsoleted in the list MONDO provided to NORD. I noticed that MONDO, does not list this condition anymore (it is listed in Orphanet) however MONDO does list
endove syndrome, limb-brain type MONDO:0030979 and endove syndrome, limb-only type MONDO:0030978
I would like to tag the two forms to NORD rare (it is currently not in NORD list) and to consider relisting the EN1-related dorsoventral syndrome with the relevant synonyms: ENDOVE syndrome and ENDOVES.
Thank you, Gioconda
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