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SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss #7975

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icordovaG opened this issue Jul 18, 2024 · 1 comment · Fixed by #8392
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curateathon2024 relabel term user request A request from an external user

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@icordovaG
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Mondo term (ID and Label):
SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss

Suggested new label:
AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss

Your nano-attribution (ORCID)
If you don't have an ORCID, you can sign up for one here
https://www.clinicalgenome.org/affiliation/40113/

Optional: Any additional information (like supporting evidence, PubMed ID, etc.)
The SPATA5L1 gene name is now outdated, please update the term to AFG2B both in the term name and in the definition.

Thank you!
@ErinRiggs

@sagehrke sagehrke added the user request A request from an external user label Jul 25, 2024
@twhetzel twhetzel self-assigned this Nov 14, 2024
@twhetzel
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twhetzel commented Nov 14, 2024

Thank you @icordovaG for this term relabel request. We will make that change and since 'SPATA5L1' was the previous gene symbol for AFG2B the current label will be maintained as a synonym.

TODO

  • re-label MONDO:0100551 to 'AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss'
  • add 'SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss' as an exact synonym with xref https://clinicalgenome.org/affiliation/40006/ (the original group that requested this term)
  • update the definition to use the new gene label
  • add term tracker property to reference this ticket
    The gene symbol used in the gene association axiom is AFG2B so no updates are needed there.

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