Update autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency #8387
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Closes #7844 Submitter has provided references and correspondence that show this disease has been updated from autosomal recessive hyper-IgE syndrome to autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
sabrinatoro
reviewed
Nov 14, 2024
| xref: Orphanet:641368 {source="MONDO:equivalentTo"} | ||
| is_a: MONDO:0018037 {source="Orphanet:641368", source="https://orcid.org/0000-0001-5208-3432"} ! hyper-IgE syndrome | ||
| property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7844" xsd:string |
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@yshwetar be careful to use "xsd:anyURI"
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@yshwetar let me know if you need help with this issue. |
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Looking at the proxy merge terms, this looks like a case where the two terms should be merged, i.e. merge MONDO:0957426 into MONDO_0032654. @sabrinatoro I added a ticket to merge these. Can you add MONDO:0957426 to the list to be obsoleted? |
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The changes requested in #7844 resulted in finding two terms that should be merged. Therefore, the OMIM xref will not be added (yet) as requested in the other ticket and will be effectively handled when the terms are merged. Rather than continue in the separate Merge ticket, Sabrina asked the merge be continued on in the original ticket. |
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Closes #7844
Submitter has provided references and correspondence that show this disease has been updated from autosomal recessive hyper-IgE syndrome to autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency. Additionally added a term tracker, and OMIM link.