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Sucrose Intolerance Disease xref proposal #886

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TudorOprea opened this issue Oct 12, 2019 · 2 comments
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Sucrose Intolerance Disease xref proposal #886

TudorOprea opened this issue Oct 12, 2019 · 2 comments
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@TudorOprea
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**Mondo term (ID and Label):MONDO:0045021

**Xref that should be fixed (ID and label):https://omim.org/entry/222900

“sucrose intolerance disease” is mappable to https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency and to https://omim.org/entry/222900.
Gene associated: "SI" - Rename Disease or add synomym "Congenital sucrase-isomaltase deficiency" aka MONDO:0009114

@cmungall
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The action here is to make MONDO:0045021 a superclass of MONDO:0009114 (which is already mapped to OMIM:222900 - mappings should be 1:1), and we should add a new sibling for the secondary/acquired form

@cmungall
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OK, it's a bit more complex. SI is dual function with 2 domains one serving as the isomaltase, the other as a sucrose alpha-glucosidase. Thus it's possible to have GSID without necessarily having SI.

I think the best thing to do may be to obsolete the generic sucrose intolerance class MONDO:0045021, as it's a dubious grouping, we have the HP classes for representing phenotype

cmungall added a commit that referenced this issue Oct 21, 2019
obsoleting generic sucrose intolerance (a phenotype), fixes #886. Axi…
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