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syndromic sensorineural deafness due to combined oxidative phosphorylation defect #7570

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galyea123 opened this issue Apr 8, 2024 · 2 comments
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@galyea123
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Hi! This term is obsoleted in the list MONDO provided to NORD . It is active in Orphanet https://www.orpha.net/en/disease/detail/457223. It is listed in MONDO as per OMIM as combined oxidative phosphorylation deficiency 34. Please add syndromic sensorineural deafness due to combined oxidative phosphorylation defect as a synonym and add tag it to NORD rare.

Thank you, Gioconda

@nicolevasilevsky
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@galyea123 thanks for the tickt.

This is already listed as an exact synonym:
image

Please let us know if anything else is needed.

Best,
Nicole

@galyea123
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Hi Nicole! Only tagging it to NORD rare. Thank you! Gioconda

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