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review sphingomyelinosis placement #3968

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sbello opened this issue Apr 23, 2024 · 1 comment
Open

review sphingomyelinosis placement #3968

sbello opened this issue Apr 23, 2024 · 1 comment

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@sbello
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sbello commented Apr 23, 2024

text definition is "the abnormal accumulation of sphingomyelin in the plasma membrane of cells of the nervous tissue, liver and spleen, usually due to sphingomyelinase deficiency" but eq uses a GO process term so the the reasoner would put this under metabolism not level.

There is also a term for 'abnormal lipolysis' that I moved to be under metabolism and the reasoner infers this to be a parent of sphingomyelinosis.

Question is sphingomyelinosis meant to be the abnormal process or the abnormal accumulation?

sbello added a commit that referenced this issue Apr 23, 2024
Added terms
Declaration(Class(<http://purl.obolibrary.org/obo/MP_0014460>))
Declaration(Class(<http://purl.obolibrary.org/obo/MP_0014461>))

working on #3968
moved abnormal lipolysis to be under abnormal metabolism
@sbello
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sbello commented Apr 24, 2024

annotations are a mix of increased level and decreased activity
also some annotations indicate accumulation in a subset of the tissues listed not all 3 tissues

Googling this returns primarily links to Niemann Pick disease

description also appears to be more the disease then a general change in either level or process

I'm inclined to obsolete this term and replace with a general increased level term
at least we should remove the eq as it does not match the text definition

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