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examples with same label, similar or identical eq but different placement #975

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sbello opened this issue Feb 10, 2025 · 0 comments
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@sbello
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sbello commented Feb 10, 2025

examples with same label, similar or identical eq but different placement in taxon ontologies and upheno

Example 1

  • Abnormal bone ossification HP:0011849
  • abnormal bone ossification MP:0008271
  • EQs both use GO GO:0001503 in eq but the eqs are constructed differently
  • MP term is on physiology branch, HP is on morphology
  • this would fit uPheno pattern http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormalBiologicalProcess.yaml
  • MP would need to change from characteristic of part of to just characteristic of and use process quality instead of quality
  • HP would need to change use process quality and drop the redundant location information

Example 2 (not the same eq)

  • Paralysis HP:0003470
  • paralysis MP:0000753
  • MP EQ uses PATO paralysed, HPO used NBO term paralysis (seems like the eq has since been removed)
  • HP term is under nervous system phys
  • MP term is under behavior in MP and under paralysed organism subdivision in uPheno

Example 3 slightly different label, same EQ

  • Hyperlordosis HP:0003307
  • lordosis MP:0000162 (note there is also a term abnormal mating receptivity that has the synonym abnormal lordosis behavior MP:0001376 that is distinct)
  • use the same eq (we changed the MP to match HP awhile ago)
  • looks like the closest uPheno parent is for the MP term is 'vertebral column morphology phenotype' and the uPheno parent for HP is vertebral column phenotype (parent of the morph term)
  • There is a uPheno term 'vertebral column, curved ventral phenotype' but neither the MP or HP terms are under this despite both using 'curved ventral' in the eq
  • Problem in uPheno - hyperlordosis shows up under embryogenesis phenotypes - actually all of vertebral column morphology phenotypes are showing up as children of presomitic mesoderm phenotypes in uPheno

Example 4

  • Hyposmia HP:0004409
  • impaired olfaction (exact synonym hyposmia) MP:0008544
  • have the same eq
  • Hyposmia - uPheno parent is nervous system physiology phenotype
  • impaired olfaction - uPheno parent olfactory system physiology phenotype
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