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TRPV4-related bone disorder RELABEL #6715
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@RyanFWebb this tag is actually tagged for obsoletion, as it is a grouping class that groups together other disorders. Is this being used by your group? cc @sabrinatoro |
@nicolevasilevsky @sabrinatoro Yes, we plan to use this tag to group together brachyolmia (MONDO:0015262), spondylometaphyseal dysplasia, Kozlowski type (MONDO:0008477), spondyloepimetaphyseal dysplasia, Maroteaux type (MONDO:0008473), and metatropic dysplasia (MONDO:0007986). We will be taking down the four separate curations we currently have published to ClinGen's website in substitute of a single curation with the title "TRPV4-related skeletal dysplasia". |
Closes #6715 @nicolevasilevsky could you please check that this is the only thing left to do for this issue? Thank you!
Closes #6715 @nicolevasilevsky could you please check that this is the only thing left to do for this issue? Thank you!
Mondo term (ID and Label):
TRPV4-related bone disorder
MONDO:0018240
Suggested new label:
TRPV4-related skeletal dysplasia
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.
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