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COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type #8761

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RyanFWebb opened this issue Feb 21, 2025 · 0 comments
Open

COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type #8761

RyanFWebb opened this issue Feb 21, 2025 · 0 comments
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@nicolevasilevsky
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@RyanFWebb
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Mondo term (ID and Label):
Ehlers-Danlos syndrome, cardiac valvular type (MONDO:0009159)

Suggested new label:
COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type

Your nano-attribution (ORCID)
ClinGen's Skeletal Disorders Gene Curation Expert Panel

Optional: Any additional information (like supporting evidence, PubMed ID, etc.)
Suggesting dyadic naming on behalf of ClinGen's Skeletal Disorders Gene Curation Expert Panel.
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