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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The SPATA5L1 gene name is now outdated, please update the term to AFG2B both in the term name and in the definition.
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.
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The SPATA5L1 gene name is now outdated, please update the term to AFG2B both in the term name and in the definition.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
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