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[Revise subclass] spinal muscular atrophy-progressive myoclonic epilepsy syndrome #5655

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pnrobinson opened this issue Nov 29, 2022 · 5 comments

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@pnrobinson
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Mondo term (ID and Label)
spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Suggested revision and reasons
Should be subclass of spinal muscular atrophy

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@nicolevasilevsky
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@pnrobinson Do you disagree with the other classifications? I added the additional parent

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@pnrobinson
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pnrobinson commented Nov 29, 2022

@cmungall @mellybelly @ahamosh
can we discuss this example in detail and write down our philosophy for classification -- this has some "has-phenotype and therefore is-a" relations and it is probably reasonable to call this
-- is-a spinal muscular atrophy
and
-- is a familial myoclonic epilepsy (note now we have only familial infantile myoclonic epilepsy )

@nicolevasilevsky
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discussed with Ada and Melissa, we can add this a subclass of familial myoclonic epilepsy

@nicolevasilevsky
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@pnrobinson there isn't currently a class in Mondo called familial myoclonic epilepsy, do you want to add it and work on this classification?

@nicolevasilevsky
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Discussed on curation call on 2025-02-05, how to handle issues like these is under discussion. Related ticket: #7826

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