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cone dystrophy classification review #1300

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lschriml opened this issue Feb 7, 2024 · 0 comments
Open

cone dystrophy classification review #1300

lschriml opened this issue Feb 7, 2024 · 0 comments
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@lschriml
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lschriml commented Feb 7, 2024

#1294 #1293 tickets
ScitBite review identified a needed classification review:
this OMIM is for achromatopsia type 5, which included with cone dystrophy 4, cone dystrophy 3 in OMIM:602093, nomenclature change, as this OMIM was previously called 'cone-rod dystrophy 14' which is DOID:0080314. -- cone dystrophy and cone-rod dystrophy nomenclature needs to be reviewed/revised

@lschriml lschriml self-assigned this Feb 7, 2024
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