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[Revise subclass] Stargardt disease is not an age-related macular degeneration #8580

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yshwetar opened this issue Jan 15, 2025 · 0 comments

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@yshwetar
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Stargardt disease, MONDO:0019353, is currently listed as a subclass of age-related macular degeneration (AMD), MONDO:0005150. Their is debate wether Stargardt disease is an AMD (PMID:9295268, PMID:10880298, PMID:11346402, PMID:10442900). Clinical publications have largely taken the latter argument (PMID:35243166, https://www.ncbi.nlm.nih.gov/books/NBK587351/), defining it as a "macular dystrophy" instead. At best, the specific subtype ABCA4-related retinopathy has been termed juvenile related macular degeneration.

Given this, Stargardt disease should be removed from the subclass age-related macular degeneration.

https://orcid.org/0000-0002-0587-4693

yshwetar added a commit that referenced this issue Jan 15, 2025
issue #8580

- Removed age-related macular degeneration as subclass of Stargardt diease
- Added excluded subclassof
- Added ORCID and PMID for evidence
nicolevasilevsky pushed a commit that referenced this issue Jan 16, 2025
* Update Stargardt disease subclass

issue #8580

- Removed age-related macular degeneration as subclass of Stargardt diease
- Added excluded subclassof
- Added ORCID and PMID for evidence

* Update exclude subclass of

- Added DOID from original subclass of source to excluded subclass of source
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