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[Revise logical def] aortic valve disease 1, 2 and 3 #7412

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paulacalipho opened this issue Mar 15, 2024 · 0 comments · Fixed by #7721
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[Revise logical def] aortic valve disease 1, 2 and 3 #7412

paulacalipho opened this issue Mar 15, 2024 · 0 comments · Fixed by #7721
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logical def user request A request from an external user

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@paulacalipho
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Mondo term (ID and Label)
'aortic valve disease 1' MONDO:0024523
'aortic valve disease 2' MONDO:0013902
'aortic valve disease 3' MONDO:0032783

Suggested revision of logical definition

Revise if in the logical definition the SubClass should be:

  • 'aortic valve disorder' MONDO:0003803
  • 'familial bicuspid aortic valve' MONDO:0007194
  • 'bicuspid aortic valve' (as in DOID:0080332, not sure an equivalent exists in MONDO)

According to the text definition, the SubClass in the logical definition should be 'aortic valve disorder' MONDO:0003803.
In that case:

  • remove in 'aortic valve disease 1' and 'aortic valve disease 2' the SubClass Of: 'familial bicuspid aortic valve' MONDO:0007194
  • add logical definition in 'aortic valve disease 3': 'aortic valve disorder' and ('has material basis in germline mutation in' some ROBO4)
  • add text definition in 'aortic valve disease 3': 'Aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta. Atrial septal defect has also been observed in some individuals'. OMIM:618496

As it is now, these 3 diseases are both sub-classes of a term and its parent.

Your nano-attribution (ORCID)
0000-0002-0819-0473
Many thanks!

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