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Addresses #364 NTR for BioData#428

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Addresses #364 NTR for BioData#428
aleixpuigb wants to merge 15 commits into
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364_NTR

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@aleixpuigb aleixpuigb commented May 28, 2026

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New terms for #364

Term ID Term Label Pattern Used Synonyms
OBA:2100006 8-epi-prostaglandin F2alpha amount in urine entity_attribute_location 8-isoprostaglandin F2alpha level in urine, 8-epi-PGF2alpha urine level
OBA:2100007 aspartate aminotransferase (human) amount in blood entity_attribute_location AST level in blood, SGOT level in blood, aspartate transaminase level in blood
OBA:2100008 D-dimer (human) amount in blood entity_attribute_location D-dimer level in blood
OBA:2100009 hemoglobin A1c amount in blood entity_attribute_location HbA1c level in blood, glycated hemoglobin level in blood
OBA:2100010 intercellular adhesion molecule 1 amount in blood entity_attribute_location ICAM-1 level in blood
OBA:2100011 amount of lipid in blood during fasting attribute_location_during_activity blood amount lipid during fasting
OBA:2100013 troponin complex amount in blood entity_attribute_location troponin level in blood
OBA:2100014 waist to hip ratio attribute_ratio waist-hip ratio, WHR
OBA:2100015 albumin to creatinine ratio in urine attribute_ratio urine albumin-to-creatinine ratio, urine ACR, albumin-creatinine ratio in urine
OBA:2100016 urea nitrogen to creatinine ratio in blood attribute_ratio BUN to creatinine ratio, BUN:creatinine ratio, blood urea nitrogen to creatinine ratio
OBA:2100017 amount of 1-alkyl-2-acetylglycerophosphocholine esterase activity in blood process_attribute_location activity of LP-PLA2 in blood, LP-PLA2 activity in blood, Lipoprotein-Associated Phospholipase A2 amount in blood

Existing terms:

Term ID Term Label
OBA:VT0008590 blood interleukin-10 amount
OBA:VT0008634 blood interleukin-18 amount
CMO:0000241 forced expiratory volume to forced vital capacity ratio
CMO:0000251 forced vital capacity (FVC)
MAXO:0000888/ NCIT:C110935 estimated glomerular filtration rate calculation/ Estimated Glomerular Filtration Rate
NCIT:C80425 / SNOMED:450360000 / SNOMED:450734004 Coronary Calcium Score / Coronary artery calcium score (observable entity) / Coronary artery calcium score (assessment scale)
EFO:0009188 Red cell distribution width
EFO:0020080 dietary sodium intake measurement
EFO:0004682 or CMO:0000235 QT interval
EFO:0004462 or CMO:0000233 PR interval
NCIT:C77964 Center for Epidemiologic Studies Depression Scale

Needs to be requested in another ontology:

Requested Suggested ontology
apnea-hypopnea index EFO
Cigarette smoking status EFO
alcohol servings/week Ideally ONE, possibly EFO
fruit consumption/week Ideally ONE, possibly EFO
vegetable consumption/week Ideally ONE, possibly EFO

#364)

Group A - entity_attribute_location (OBA:2100006-2100013):
- OBA:2100006: 8-epi-prostaglandin F2alpha amount in urine (CHEBI:34505)
- OBA:2100007: aspartate aminotransferase (human) amount in blood (PR:000050353)
- OBA:2100008: D-dimer (human) amount in blood (PR:000050369)
- OBA:2100009: hemoglobin A1c amount in blood (PR:000050469)
- OBA:2100010: intercellular adhesion molecule 1 amount in blood (PR:000001467)
- OBA:2100011: interleukin-10 amount in blood (PR:000001471)
- OBA:2100012: interleukin-18 amount in blood (PR:000001376)
- OBA:2100013: troponin complex amount in blood (GO:0005861)

Group B - attribute_ratio (OBA:2100014-2100016):
- OBA:2100014: waist to hip ratio (OBA:1001085 / OBA:1000032)
- OBA:2100015: albumin to creatinine ratio in urine (OBA:VT0002871 / OBA:VT0010540; CMO:0000384)
- OBA:2100016: urea nitrogen to creatinine ratio in blood (OBA:VT0005265 / OBA:VT0005328)

Closes part of #364
Refresh imports and definitions.owl
These two terms (interleukin-10 amount in blood and interleukin-18 amount in blood) were already created in the ontology, so removed them from this branch to avoid duplication.
@aleixpuigb aleixpuigb self-assigned this May 29, 2026
aleixpuigb and others added 6 commits May 29, 2026 12:12
Add a new term for the amount of lipid in blood during fasting (OBA:2090011). Changes: append new row to src/patterns/data/default/attribute_location_during_activity.tsv (and fix newline on the insulin row), update src/patterns/definitions.owl release IRI and versionInfo to 2026-05-29, add Declaration for OBA_2090011 and its annotations (label, definition, dbxref/exact synonym) and an EquivalentClasses axiom linking the PATO amount to CHEBI:18059 located in blood during fasting.
New pattern: combined_process_attribute_during_activity
- Models traits that capture the rate/frequency of two combined processes
  during a specific activity (e.g. apnea + hypopnea events per hour of sleep)
- Uses subClassOf (not equivalentTo) to avoid OWL union semantic issue:
  an equivalence axiom would incorrectly classify a rate of only one
  process (apnea-only) as a subtype of AHI
- Vars: entity1, entity2 (owl:Thing), attribute (quality), activity (GO:0008150)
- Relation: characteristic_of (RO:0000052), happens_during (RO:0002092)

New term: OBA:2100017 apnea-hypopnea index (AHI)
- entity1: HP:0002104 (apnea), entity2: HP:0040213 (hypopnea)
- attribute: PATO:0050000 (rate of occurence)
- activity: GO:0030431 (sleep)
- Synonyms: AHI, apnoea-hypopnoea index; related: apnea index, hypopnea index
- Xref: SNOMED:774099003
- Note: happens_during sleep is retained because HP:0002104 and HP:0040213
  are not sleep-specific phenotypes; there is no HP term for sleep hypopnea
  to encode sleep context in the entity itself

Import updates:
- Add HP:0002104 and HP:0040213 to hp_terms.txt seed
- Regenerate merged_import.owl (now includes HP:0040213)
- Regenerate definitions.owl and components

Co-authored-by: Copilot <223556219+Copilot@users.noreply.github.com>
Update the apnea-hypopnea index ID from OBA:2100017 to OBA:2100012. The TSV row in combined_process_attribute_during_activity.tsv was updated and the OWL definitions were adjusted accordingly: a Declaration and annotation/class axioms for OBA_2100012 were added, and the previous OBA_2100017 class block was removed to keep ontology IDs consistent with the pattern data.
…e_during_activity_ratio

- Renamed YAML pattern file
- Renamed TSV data file
- Updated internal pattern_name, pattern_iri, and xref annotation in YAML
- Updated xref annotation in definitions.owl

Co-authored-by: Copilot <223556219+Copilot@users.noreply.github.com>
I want to use this commit as a checkpoint, but it has many inconsistencies described in the next commit
Delete the attribute_during_activity_ratio pattern.
The pattern was created for a particular term but it doesn't represent well the term. The ratio shouldn't be between phenotypes but the count of occurrences for each phenotype.
@aleixpuigb

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Hi @MeeSiing @diatomsRcool I need to fix some issues, but I have created some terms and I have suggested some existent terms from other ontologies. There are two more terms that can be created in other ontologies. The rest of the terms I need to think a bit more about them, but at the moment non of the existent patterns would be able to create them. Also, please let me know if there is any extra term you think is missing (you commented about having some analytes during fasting).

@aleixpuigb

aleixpuigb commented Jul 2, 2026

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For food servings/week, there are some terms that could be useful such as 'food portion' (FOODON:00003336). However, I'm not sure if in your context portion and serving are exact synonyms.
I don't think these terms are in the scope of OBA, but I can create them in efo. Ideally they would go to Ontology for Nutritional Epidemiology, but it doesn't seem to be maintained.

@diatomsRcool

diatomsRcool commented Jul 2, 2026

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I agree that the consumption terms do not belong in OBA. For all of the terms that need to be requested, I think we can hold off on those and use OMOP identifiers. If I request Lipoprotein-Associated Phospholipase A2 activity in GO, will you then be able to make an OBA term for Lipoprotein-Associated Phospholipase A2 activity in blood?
I definitely need fasting and non-fasting terms for blood glucose, blood insulin, LDL, and HDL.
There's a potential issue with a substance being measured in whole blood, plasma, or serum. Some substances can only be measured in one, but some can be measured in all three. Should I make a list?
We just started on our second round of harmonization priorities. Should I start a new issue for that?

@aleixpuigb

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Thank you for your answer.

For all of the terms that need to be requested, I think we can hold off on those and use OMOP identifiers.

Ok, if in the future you need one of the 5 terms that could be created in EFO let me know.

If I request Lipoprotein-Associated Phospholipase A2 activity in GO, will you then be able to make an OBA term for Lipoprotein-Associated Phospholipase A2 activity in blood?

Yes, once I have the GO term I can import and generate the OBA term.

I definitely need fasting and non-fasting terms for blood glucose, blood insulin, LDL, and HDL.

I can create easily the fasting terms. However, while fasting (in the context of this design pattern) is a process, non-fasting is a state unless you are actively eating (feeding). Therefore we can't use the same model. Maybe we could ask PATO if 'fed state' would fit in their ontology and then I can create the terms in OBA.

There's a potential issue with a substance being measured in whole blood, plasma, or serum. Some substances can only be measured in one, but some can be measured in all three. Should I make a list?

Yes please, a list would be very useful.

We just started on our second round of harmonization priorities. Should I start a new issue for that?

That would be preferable. However, if it is a new issue, please do not include the terms that are already part of this issue. I would prefer as well that the fasting non-fasting terms are part of the new issue, and keep this PR for the terms requested.

I will finish with the terms that are already created to be ready for the next release, thank you.

@diatomsRcool

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Regarding the fasting terms, I think just leaving off the process would be fine. No need to specifically say "non-fasting". I will make the lists and then put them in a new issue. Thanks!

@diatomsRcool

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New term requested in GO......

@diatomsRcool

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This is the GO term we need: GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity. Just needed some synonyms.

@aleixpuigb

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This is the GO term we need: GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity. Just needed some synonyms.

That's great, thank you!

@aleixpuigb aleixpuigb marked this pull request as ready for review July 9, 2026 12:43
@aleixpuigb aleixpuigb requested a review from ar-ibrahim July 9, 2026 12:49
Comment thread src/patterns/data/default/attribute_location_during_activity.tsv
Comment thread src/patterns/data/default/entity_attribute_location.tsv Outdated
Comment thread src/patterns/data/default/entity_attribute_location.tsv Outdated
Comment thread src/patterns/data/default/entity_attribute_location.tsv
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3 participants