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spondyloepiphyseal dysplasia with metatarsal shortening RELABEL #7375

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RyanFWebb opened this issue Mar 5, 2024 · 1 comment
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spondyloepiphyseal dysplasia with metatarsal shortening RELABEL #7375

RyanFWebb opened this issue Mar 5, 2024 · 1 comment
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relabel term user request A request from an external user

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@RyanFWebb
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RyanFWebb commented Mar 5, 2024

Mondo term (ID and Label):
Czech dysplasia, metatarsal type
MONDO:0012206

Suggested new label:
spondyloepiphyseal dysplasia with metatarsal shortening

Your nano-attribution (ORCID)
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0009-0003-2127-3550

Optional: Any additional information (like supporting evidence, PubMed ID, etc.)
I am requesting this relabel on behalf of ClinGen's Skeletal Disorders GCEP, with the historical term to be included in the description of this skeletal dysplasia.

@twhetzel
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twhetzel commented May 3, 2024

This was completed with #7387 and #7388 but adding this term tracker reference to the class properties.

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Labels
relabel term user request A request from an external user
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