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Review and deepen Ectodermal Dysplasia and Immunodeficiency 2 (MONDO:0012806) #14737

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Merged
caufieldjh merged 9 commits into from
Oct 18, 2026
Merged

Review and deepen Ectodermal Dysplasia and Immunodeficiency 2 (MONDO:0012806) #14737

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78ec807
Review and deepen Ectodermal Dysplasia and Immunodeficiency 2 (MONDO:…
cmungall Oct 17, 2026
ca54547
Fix CI validation findings for Ectodermal_Dysplasia_and_Immunodeficie…
cmungall Oct 17, 2026
24cc185
Merge remote-tracking branch 'origin/main' into review/ectodermal-dys…
cmungall Oct 18, 2026
8946021
Address review feedback for Ectodermal_Dysplasia_and_Immunodeficiency…
cmungall Oct 18, 2026
e11c763
Merge remote-tracking branch 'origin/main' into review/ectodermal-dys…
cmungall Oct 18, 2026
4a6bf3b
Address review feedback for Ectodermal_Dysplasia_and_Immunodeficiency_2
cmungall Oct 18, 2026
3aa97b6
Merge remote-tracking branch 'origin/main' into review/ectodermal-dys…
cmungall Oct 18, 2026
1db2fb7
Fix history CURIE and commit GO:0051059 enum cache row for EDAID2
cmungall Oct 18, 2026
cd4b42e
Restore GO:0006999 in cache/go/terms.csv and re-cache GO:0051059
cmungall Oct 18, 2026
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1 change: 1 addition & 0 deletions cache/go/terms.csv
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Expand Up @@ -3522,6 +3522,7 @@ GO:0051017,actin filament bundle assembly,2026-08-24T00:33:25.589040
GO:0051018,protein kinase A binding,2026-09-03T20:55:09.389098
GO:0051028,mRNA transport,2026-08-19T09:37:38.104111
GO:0051056,regulation of small GTPase mediated signal transduction,2026-06-05T14:39:52.366759
GO:0051059,NF-kappaB binding,2026-10-18T01:01:08.994701
GO:0051082,obsolete unfolded protein binding,2026-08-23T03:00:45.378722
GO:0051087,protein-folding chaperone binding,2026-07-22T12:56:33.809754
GO:0051092,obsolete positive regulation of NF-kappaB transcription factor activity,2026-03-17T19:24:47.720819
Expand Down
34 changes: 34 additions & 0 deletions .../2026-10-17T17-00-00Z-antigravity-ectodermal-dysplasia-and-immunodeficiency-2-review.yaml
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@@ -0,0 +1,34 @@
history_version: 1
target:
kind: disorder
slug: Ectodermal_Dysplasia_and_Immunodeficiency_2
path: kb/disorders/Ectodermal_Dysplasia_and_Immunodeficiency_2.yaml
session:
id: 2026-10-17T17-00-00Z-antigravity-ectodermal-dysplasia-and-immunodeficiency-2-review
timestamp: '2026-10-17T17:00:00Z'
actors:
- type: ai_agent
name: antigravity
model: claude-opus-4-6
agent_tool: antigravity
links:
issues: []
prs:
- https://github.com/monarch-initiative/dismech/pull/14737
urls: []
events:
- type: REVIEW
outcome: changed
sections:
- classifications
- prevalence
- progression
- pathophysiology
- phenotypes
- genetic
- diagnosis
- differential_diagnoses
- treatments
summary: 'Deepen Ectodermal Dysplasia and Immunodeficiency 2 with GO:0051059 (NF-kappaB binding) grounding, AD EDA-ID-specific PMID:28629746 phenotype evidence, four additional phenotypes, structured gene_disease_validity, and CHEBI:3770 therapeutic_agent.'
details: 'Wired NFKBIA into the IkBa Gain-of-Function pathophysiological trigger node with GO:0051059 (NF-kappaB binding, INCREASED) and modifier DECREASED on GO:0007249, connected downstream pathophysiology nodes to clinical phenotypes including Chronic Mucocutaneous Candidiasis (HP:0002728), Pneumocystis jirovecii Pneumonia (HP:0020102), Chronic Diarrhea (HP:0002028), and Decreased Gamma-Delta T Cell Proportion (HP:0500255), replaced generic ectodermal dysplasia snippets with AD EDA-ID-specific PMID:28629746 evidence, populated gene_disease_validity: DEFINITIVE on NFKBIA and therapeutic_agent CHEBI:3770 on Antimicrobial Prophylaxis, and added classifications, prevalence, progression, diagnosis, and differential_diagnoses sections.
'
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