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MONDO:0018159 “atypical hemolytic-uremic syndrome with DGKE deficiency” #8517

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kanems opened this issue Jan 2, 2025 · 0 comments
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relabel term user request A request from an external user xref

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@kanems
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kanems commented Jan 2, 2025

Mondo term (ID and Label):
MONDO:0018159 “atypical hemolytic-uremic syndrome with DGKE deficiency”

Xref that should be fixed (ID and label):
DOID “nephrotic syndrome type 7” DOID_0080388 https://www.ebi.ac.uk/ols4/ontologies/doid/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FDOID_0080388?lang=en
Given that the DOID term is the same name as OMIM 615008 , should the DOID x-ref map instead to MONDO:0014005 “immunoglobulin-mediated membranoproliferative glomerulonephritis” ?

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Other comments:
I also have a question about Mondo's name on MONDO:0018159: “atypical hemolytic-uremic syndrome with DGKE deficiency” -- Where does the “atypical” come from? I am not seeing attribution on names in EBI/OLS for this entry http://purl.obolibrary.org/obo/MONDO_0018159
OrphaNet does not use the "atypical" descriptor on their entry, and the Orphanet name is not cited on this target. MedGen is using Mondo's name right now, but I think Orphanet's preferred name is probably the one to use here.

Also it may be worth adding a "related" synonym of "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7" from the OMIM 615008 "included" concept: https://www.omim.org/entry/615008 (may be helpful in case someone wants to go look at the OMIM entry that describes this clinical entity, I know the OMIM included concepts are tricky)

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