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steatorrhea eq #3998

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sbello opened this issue Jun 18, 2024 · 2 comments
Closed

steatorrhea eq #3998

sbello opened this issue Jun 18, 2024 · 2 comments
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axiom HPO mapping mapping of MP to HP terms

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@sbello
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sbello commented Jun 18, 2024

Both MP and HP have a term "steatorrhea"
MP definition - passage of large amounts of fat in the feces due to the inability to digest and absorb it
HP definition - Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.

I think these are intended to be the same phenotype but they have different eqs and I don't think either is correct.

MP - 'has part' some
('increased amount' and ('characteristic of' some
(lipid and ('part of' some feces))) and ('has modifier' some abnormal))
I think this is too broad, the intent of steatorrhea I think is more 'excessive total lipid'. We would not want to say that feces with an increase in some type of lipid - say bile salts is a child of steatorrhea but we would want to say that it is a child of increase feces lipid level as this typically just means an increase in some lipid

HP - has partsome(increased amountpatoandcharacteristic ofrosome(adipose tissueuberonandpart ofrosomefecesuberon)andhas modifierrosomeabnormalpato)
not sure why this is using 'adipose tissue' it isn't isn't the tissue but lipids in general in the feces

Should discuss this at the next MP-HP call

@anna-anagnostop
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We should also discuss placement.

MP places steatorrhea under abnormal feces composition which is under "abnormal digestive system physiology".

HPO places steatorrhea under "Fat malabsorption" which is a child of both "Abnormal small intestine morphology" and "Malabsorption" (under "Abnormality of digestive system physiology").

Note that fatty PATO:0002114, defined as "A composition quality inhering in a bearer by virtue of the bearer's containing excess lipid", is under "composition" which is a child of "structure". So using fatty in the EQ would disconnect steatorrhea from digestive system physiology.

@sbello
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sbello commented Jul 18, 2024

Discussed at the MP-HP meeting 7/18/24 plan is to

  • remove the EQ from the MP term
  • add new parent class of increased feces lipid level
  • add mapping of MP-HP steatorrhea terms to the SSSOM file

@sbello sbello closed this as completed Nov 12, 2024
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axiom HPO mapping mapping of MP to HP terms
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