diff --git a/changelog.md b/changelog.md index 3c660f1..eef2fb3 100644 --- a/changelog.md +++ b/changelog.md @@ -1,5 +1,29 @@ # Changelog +## edit/KrishnaTO/mappings-review-1788817126 + +Fixes the 19 `validate` errors the review batch raised. Both were pre-existing gaps this +batch was the first to expose; neither is a fault in the judgments the curator recorded. + +- **Morvan syndrome had no ARI id.** It was created on 2026-07-02, before the metadata + manager started allocating sequential ids, so it kept a placeholder + `#ARI_new_5199ce2a` IRI and carried no `ARI_ID` at all — the only such record left in the + ontology. It went unnoticed until this batch exported the first mapping rows for it, and + the empty subject reached both files spelled differently (`ARI:` in the equivalencies, + empty in the SSSOM), so each file also reported the other as missing the row. Assigned + `ARI:0001213` and moved the individual onto the registry namespace, matching every other + disease. The number is the ontology's highest plus one, which is the same floor the + manager's own allocator uses. +- **Recorded four judgments that were never written.** `ARI:0001158` (Polyglandular + autoimmune syndrome type 2) lost DOID `0060234`, umls `C1275078`, ncit `C98873` and mesh + `C563187`. Its changelog shows all four went through the disease record's field editor + (`Edited: doid`, `Edited: nci`, `Edited: umls`, `Edited: mesh`) half an hour before the + review was submitted. That path writes the ontology and nothing else, so the ids were + dropped with no decision behind them — exactly what `xref-deleted` exists to catch. The + replacements are right, so the four are now flagged wrong in both exports rather than + restored. Note that the `mesh` `NoTermFound` row the review did write does not stand in + for this: an absent-database verdict says nothing about the specific id that was there. + ## fix-ms-omop-and-lost-judgments - **Corrects an error `restore-overwritten-curation` introduced.** OMOP `4027727` is diff --git a/mappings/ari.equivalencies.tsv b/mappings/ari.equivalencies.tsv index ca32e14..b175561 100644 --- a/mappings/ari.equivalencies.tsv +++ b/mappings/ari.equivalencies.tsv @@ -562,3 +562,60 @@ ARI 0001074 Cryptogenic organizing pneumonia skos:exactMatch ncit C35806 manual- ARI 0001074 Cryptogenic organizing pneumonia skos:exactMatch icd10cm J84.114 manual-negative github:KrishnaTO ARI 0001074 Cryptogenic organizing pneumonia skos:exactMatch umls C0085786 manual-negative github:KrishnaTO ARI 0001074 Cryptogenic organizing pneumonia skos:exactMatch mesh D000080203 manual-negative github:KrishnaTO +ARI 0001131 Mooren's ulcer skos:exactMatch ORPHA 519408 manual github:KrishnaTO +ARI 0001131 Mooren's ulcer skos:exactMatch MONDO 0001032 manual github:KrishnaTO +ARI 0001131 Mooren's ulcer skos:exactMatch DOID 10439 manual github:KrishnaTO +ARI 0001131 Mooren's ulcer skos:exactMatch SNOMEDCT 22440001 manual github:KrishnaTO +ARI 0001131 Mooren's ulcer skos:exactMatch icd10cm H16.05 manual github:KrishnaTO +ARI 0001131 Mooren's ulcer skos:exactMatch umls C0155072 manual github:KrishnaTO +ARI 0001131 Mooren's ulcer skos:exactMatch omop 435271 manual github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch SNOMEDCT 305719002 manual github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch MONDO 0019399 manual github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch ncit C202012 manual github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch mesh D020386 manual github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch umls C0242287 manual github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch ORPHA 84142 manual github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch omop 4125693 manual github:KrishnaTO +ARI 0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch SNOMEDCT 11244009 manual github:KrishnaTO +ARI 0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch omop 4008545 manual github:KrishnaTO +ARI 0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch DOID 0050167 manual github:KrishnaTO +ARI 0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch MONDO 0009411 manual github:KrishnaTO +ARI 0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch ncit C129727 manual github:KrishnaTO +ARI 0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch ORPHA 3453 manual github:KrishnaTO +ARI 0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch umls C0085859 manual github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch SNOMEDCT 83728000 manual github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch omop 4308266 manual github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch MONDO 0010012 manual github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch ORPHA 3143 manual github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch SNOMEDCT 449731009 manual github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch omop 42709859 manual github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch MONDO 0016422 manual github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch ORPHA 227982 manual github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch umls C1535942 manual github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch SNOMEDCT 449730005 manual github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch omop 42709858 manual github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch MONDO 0016423 manual github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch ORPHA 227990 manual github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch umls C3266026 manual github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch omop 46272949 manual-negative github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch MONDO 0019012 manual-negative github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch ORPHA 65759 manual-negative github:KrishnaTO +ARI 0001213 Morvan syndrome skos:exactMatch DOID NoTermFound manual-absent github:KrishnaTO +ARI 0001213 Morvan syndrome skos:exactMatch ncit NoTermFound manual-absent github:KrishnaTO +ARI 0001213 Morvan syndrome skos:exactMatch icd10cm NoTermFound manual-absent github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch icd10cm NoTermFound manual-absent github:KrishnaTO +ARI 0001144 Neuromyotonia skos:exactMatch DOID NoTermFound manual-absent github:KrishnaTO +ARI 0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch icd10cm NoTermFound manual-absent github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch mesh NoTermFound manual-absent github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch DOID NoTermFound manual-absent github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch ncit NoTermFound manual-absent github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch icd10cm NoTermFound manual-absent github:KrishnaTO +ARI 0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch mesh NoTermFound manual-absent github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch DOID NoTermFound manual-absent github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch ncit NoTermFound manual-absent github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch icd10cm NoTermFound manual-absent github:KrishnaTO +ARI 0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch mesh NoTermFound manual-absent github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch DOID 0060234 manual-negative github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch umls C1275078 manual-negative github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch mesh C563187 manual-negative github:KrishnaTO +ARI 0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch ncit C98873 manual-negative github:KrishnaTO diff --git a/mappings/ari.sssom.tsv b/mappings/ari.sssom.tsv index 28f40f0..24d6933 100644 --- a/mappings/ari.sssom.tsv +++ b/mappings/ari.sssom.tsv @@ -583,3 +583,60 @@ ARI:0001074 Cryptogenic organizing pneumonia skos:exactMatch Not ncit:C35806 nci ARI:0001074 Cryptogenic organizing pneumonia skos:exactMatch Not icd10cm:J84.114 icd10cm semapv:ManualMappingCuration github:KrishnaTO 2026-09-03T00:34:22+00:00 ARI:0001074 Cryptogenic organizing pneumonia skos:exactMatch Not umls:C0085786 umls semapv:ManualMappingCuration github:KrishnaTO 2026-09-03T00:34:22+00:00 ARI:0001074 Cryptogenic organizing pneumonia skos:exactMatch Not mesh:D000080203 mesh semapv:ManualMappingCuration github:KrishnaTO 2026-09-03T00:34:22+00:00 +ARI:0001131 Mooren's ulcer skos:exactMatch ORPHA:519408 ORPHA semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001131 Mooren's ulcer skos:exactMatch MONDO:0001032 MONDO semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001131 Mooren's ulcer skos:exactMatch DOID:10439 DOID semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001131 Mooren's ulcer skos:exactMatch SNOMEDCT:22440001 SNOMEDCT semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001131 Mooren's ulcer skos:exactMatch icd10cm:H16.05 icd10cm semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001131 Mooren's ulcer skos:exactMatch umls:C0155072 umls semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001131 Mooren's ulcer skos:exactMatch omop:435271 omop semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch SNOMEDCT:305719002 SNOMEDCT semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch MONDO:0019399 MONDO semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch ncit:C202012 ncit semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch mesh:D020386 mesh semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch umls:C0242287 umls semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch ORPHA:84142 ORPHA semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch omop:4125693 omop semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch SNOMEDCT:11244009 SNOMEDCT semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch omop:4008545 omop semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch DOID:0050167 DOID semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch MONDO:0009411 MONDO semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch ncit:C129727 ncit semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch ORPHA:3453 ORPHA semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch umls:C0085859 umls semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch SNOMEDCT:83728000 SNOMEDCT semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch omop:4308266 omop semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch MONDO:0010012 MONDO semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch ORPHA:3143 ORPHA semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch SNOMEDCT:449731009 SNOMEDCT semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch omop:42709859 omop semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch MONDO:0016422 MONDO semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch ORPHA:227982 ORPHA semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch umls:C1535942 umls semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch SNOMEDCT:449730005 SNOMEDCT semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch omop:42709858 omop semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch MONDO:0016423 MONDO semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch ORPHA:227990 ORPHA semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch umls:C3266026 umls semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch Not omop:46272949 omop semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch Not MONDO:0019012 MONDO semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch Not ORPHA:65759 ORPHA semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001213 Morvan syndrome skos:exactMatch sssom:NoTermFound DOID semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001213 Morvan syndrome skos:exactMatch sssom:NoTermFound ncit semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001213 Morvan syndrome skos:exactMatch sssom:NoTermFound icd10cm semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch sssom:NoTermFound icd10cm semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001144 Neuromyotonia skos:exactMatch sssom:NoTermFound DOID semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001157 Polyglandular autoimmune syndrome type 1 skos:exactMatch sssom:NoTermFound icd10cm semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch sssom:NoTermFound mesh semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch sssom:NoTermFound DOID semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch sssom:NoTermFound ncit semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch sssom:NoTermFound icd10cm semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001159 Polyglandular autoimmune syndrome type 3 skos:exactMatch sssom:NoTermFound mesh semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch sssom:NoTermFound DOID semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch sssom:NoTermFound ncit semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch sssom:NoTermFound icd10cm semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001160 Polyglandular autoimmune syndrome type 4 skos:exactMatch sssom:NoTermFound mesh semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch Not DOID:0060234 DOID semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch Not umls:C1275078 umls semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch Not mesh:C563187 mesh semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 +ARI:0001158 Polyglandular autoimmune syndrome type 2 skos:exactMatch Not ncit:C98873 ncit semapv:ManualMappingCuration github:KrishnaTO 2026-09-07T21:38:45+00:00 diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index e26add6..04ca571 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -14082,7 +14082,6 @@ It is under debate whether collagenous and lymphocytic colitis are different pha - @@ -14094,33 +14093,44 @@ It is under debate whether collagenous and lymphocytic colitis are different pha + + Mooren's Ulcer is a chronic eye condition that causes inflammation where the eye's covering (cornea) joins with the white part of the eye (sclera). This type of inflammation is called Peripheral Ulcerative Keratitis (PUK). These persistent peripheral ulcers of the cornea often spread into and around the eye. There are several variants of this disorder: Aggressive Bilateral Mooren's Ulcers patients usually have an ulcer in one eye and congestion or discharge in the other eye. Pain is milder, and grey patches may develop within 2 mm of the border between the cornea and the white of the eye (limbus). Bilateral Indolent Mooren's Ulcers affect both eyes, with one eye typically showing more severity. Discomfort may occur with minimal inflammation. Unilateral Mooren's ulcers can occur in one or both eyes and is excessively painful. Redness and congestion are apparent, but inflammation is seen within 3 mm of the limbus. Mooren's Ulcer is believed to be an autoimmune disorder, but more research is needed. The condition can be benign, with few symptoms and low risk of complications, or malignant, with severe symptoms. Without medical care, malignant cases may lead to vision loss, but treatments are available to prevent this. Mooren's ulcer - false + Unconfirmed + Unconfirmed + 612.0 + 48-48 years ARI:0001131 + Peripheral Ulcerative Keratitis + Corneal Ulcer + 2 + 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-09-07T19:01:43+00:00 | user | Edited: mesh + 2026-09-07T19:02:43+00:00 | user | Edited: mesh + 2026-09-07T19:03:39+00:00 | user | Edited: nci + 2026-09-07T19:03:54+00:00 | user | Edited: mesh + 2026-09-07T21:38:43+00:00 | KrishnaTO | Cross-reference review: confirmed ORPHANET 519408; confirmed MONDO 0001032; confirmed DOID 10439; confirmed SNOMED 22440001; confirmed ICD10 H16.05; confirmed UMLS C0155072; confirmed OMOP 435271 + 2026-09-07T21:38:43+00:00 | KrishnaTO | Stored confirmed cross-reference: ORPHANET 519408; MONDO 0001032 22440001 10439 C0155072 + 0001032 H16.05 + Female 153/100k; Male 459/100k; F:M ratio 0.333333 + No studies found; CONFIRMED NO DATA Sept 2021 + false 435271 22440001 - Mooren's Ulcer is a chronic eye condition that causes inflammation where the eye's covering (cornea) joins with the white part of the eye (sclera). This type of inflammation is called Peripheral Ulcerative Keratitis (PUK). These persistent peripheral ulcers of the cornea often spread into and around the eye. There are several variants of this disorder: Aggressive Bilateral Mooren's Ulcers patients usually have an ulcer in one eye and congestion or discharge in the other eye. Pain is milder, and grey patches may develop within 2 mm of the border between the cornea and the white of the eye (limbus). Bilateral Indolent Mooren's Ulcers affect both eyes, with one eye typically showing more severity. Discomfort may occur with minimal inflammation. Unilateral Mooren's ulcers can occur in one or both eyes and is excessively painful. Redness and congestion are apparent, but inflammation is seen within 3 mm of the limbus. Mooren's Ulcer is believed to be an autoimmune disorder, but more research is needed. The condition can be benign, with few symptoms and low risk of complications, or malignant, with severe symptoms. Without medical care, malignant cases may lead to vision loss, but treatments are available to prevent this. - Peripheral Ulcerative Keratitis - Corneal Ulcer - No studies found; CONFIRMED NO DATA Sept 2021 - Unconfirmed - Unconfirmed - 2 - 612.0 - Female 153/100k; Male 459/100k; F:M ratio 0.333333 - 48-48 years + D003320 + C50515 Corneal Dystrophy Foundation | https://www.cornealdystrophyfoundation.org/ Cornea Research Foundation of America | http://www.cornea.org/ - Mooren’s Ulcer, Unilateral - Affects one eye. - Mooren’s Ulcer, Bilateral - Affects both eyes, more severe. Katelynn Hunter 2024-09 + Mooren’s Ulcer, Unilateral - Affects one eye. + Mooren’s Ulcer, Bilateral - Affects both eyes, more severe. MU - 2026-06-15 10:37 | Importer | Imported from ARI core reports + 519408 @@ -15501,7 +15511,6 @@ The specific location of vasculitis inflammation determines what tissue or organ - @@ -15523,32 +15532,41 @@ The specific location of vasculitis inflammation determines what tissue or organ + + Neuromyotonia (also known as Issacs' syndrome) is a rare, autoimmune disorder in which hyperactive nerves cause muscles to be over-activated. This hyperactivity results in muscle stiffness, twitching, cramping, increased sweating, and delayed muscle relaxation, especially in the limbs and trunk. These symptoms can occur anytime, even when asleep or under anaesthesia. Weakened reflexes and muscle pain is also common. There is currently no cure, but treatment may manage symptoms. Neuromyotonia - false + Antibody + Autoimmune + 15-60 years ARI:0001144 - 305719002 - 46272949, 4125693 - 305719002 - Neuromyotonia (also known as Issacs' syndrome) is a rare, autoimmune disorder in which hyperactive nerves cause muscles to be over-activated. This hyperactivity results in muscle stiffness, twitching, cramping, increased sweating, and delayed muscle relaxation, especially in the limbs and trunk. These symptoms can occur anytime, even when asleep or under anaesthesia. Weakened reflexes and muscle pain is also common. There is currently no cure, but treatment may manage symptoms. NMT Isaacs-Mertens syndrome Quantal squander syndrome Issacs' syndrome Isaacs' syndrome Continuous muscle fiber activity syndrome - No studies found; CONFIRMED NO DATA Sept 2021 - Antibody - Autoimmune 2 - 15-60 years + 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-09-07T21:38:43+00:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 305719002; confirmed MONDO 0019399; confirmed NCI C202012; confirmed MESH D020386; confirmed UMLS C0242287; confirmed ORPHANET 84142; confirmed OMOP 4125693; flagged OMOP 46272949; no term in ICD10; no term in DOID + 2026-09-07T21:38:43+00:00 | KrishnaTO | Stored confirmed cross-reference: MONDO 0019399; NCI C202012; MESH D020386; UMLS C0242287; ORPHANET 84142 + 2026-09-07T21:38:43+00:00 | KrishnaTO | Removed flagged cross-reference: OMOP 46272949 + 305719002 + C0242287 + 0019399 + No studies found; CONFIRMED NO DATA Sept 2021 + false + 4125693 + 305719002 + D020386 + C202012 Link to Cleveland Clinic | https://my.clevelandclinic.org/health/diseases/22665-isaacs-syndrome Isaac’s Syndrome | https://www.facebook.com/groups/ISAACS.PNH/ - Neuromyotonia, Hereditary - Genetic mutations affecting nerve function. - Neuromyotonia, Acquired - Autoimmune form. Rebecca Wang 2024-09 + Neuromyotonia, Hereditary - Genetic mutations affecting nerve function. + Neuromyotonia, Acquired - Autoimmune form. NM - 2026-06-15 10:37 | Importer | Imported from ARI core reports + 84142 @@ -16781,7 +16799,6 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that - @@ -16795,31 +16812,42 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that + + Polyglandular autoimmune syndrome type 1 is a rare autoimmune condition that is caused by a genetic variant that prevents the destruction of antibodies in the thymus gland. As a result, those antibodies attack healthy tissue in a number of glands, leading to the symptoms. There are three components of APECED: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Polyglandular autoimmune syndrome type 1 - false + Antibody + Autoimmune + 0-0 years ARI:0001157 - 11244009 - 0050167 - 4008545 - 11244009 - Polyglandular autoimmune syndrome type 1 is a rare autoimmune condition that is caused by a genetic variant that prevents the destruction of antibodies in the thymus gland. As a result, those antibodies attack healthy tissue in a number of glands, leading to the symptoms. There are three components of APECED: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Autoimmune polyglandular syndrome type 1 Autoimmune polyendocrine syndrome type 1 Whitaker syndrome APS-1 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy APECED - No studies found; CONFIRMED NO DATA Sept 2021 - Antibody - Autoimmune 2 - 0-0 years + 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-09-07T19:15:35+00:00 | user | Edited: mesh + 2026-09-07T21:24:45+00:00 | user | Edited: mesh + 2026-09-07T21:27:39+00:00 | user | Edited: mesh + 2026-09-07T21:38:43+00:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 11244009; confirmed OMOP 4008545; confirmed DOID 0050167; confirmed MONDO 0009411; confirmed NCI C129727; confirmed ORPHANET 3453; confirmed UMLS C0085859; no term in ICD10 + 2026-09-07T21:38:43+00:00 | KrishnaTO | Stored confirmed cross-reference: MONDO 0009411; NCI C129727; ORPHANET 3453; UMLS C0085859 + 11244009 + 0050167 + C0085859 + 0009411 + No studies found; CONFIRMED NO DATA Sept 2021 + false + 4008545 + 11244009 + C538275 + C129727 APS Type 1 Foundation | https://apstype1.org/education/ - APS-1, Classic - Childhood onset, includes Addison’s disease, hypoparathyroidism, and candidiasis. Autoimmune Registry 2024-09 + APS-1, Classic - Childhood onset, includes Addison’s disease, hypoparathyroidism, and candidiasis. PAS1 - 2026-06-15 10:37 | Importer | Imported from ARI core reports + 3453 @@ -16902,7 +16930,6 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that - @@ -16919,17 +16946,13 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that + + APS-2 is an overlap disease that may include Addison's disease, thyroid diseases (Graves disease, Hashimoto's thyroiditis), and diabetes mellitus type 1 Polyglandular autoimmune syndrome type 2 - false + Antibody + Autoimmune + 30-50 years ARI:0001158 - 83728000 - 0060234 - C1275078 - C563187 - C98873 - 4308266 - 83728000 - APS-2 is an overlap disease that may include Addison's disease, thyroid diseases (Graves disease, Hashimoto's thyroiditis), and diabetes mellitus type 1 Multiple endocrine deficiency syndrome type 2 PGA 2 Autoimmune polyendocrine syndrome type 2 @@ -16939,16 +16962,30 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that Polyglandular deficiency syndrome type 2 Carpenter syndrome Schmidt syndrome - No studies found; CONFIRMED NO DATA Sept 2021 - Antibody - Autoimmune 2 - 30-50 years - APS-2, Schmidt Syndrome - Addison’s disease with thyroid autoimmunity. + 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-09-07T19:14:46+00:00 | user | Edited: icd10 + 2026-09-07T21:09:07+00:00 | user | Edited: doid + 2026-09-07T21:14:03+00:00 | user | Edited: nci + 2026-09-07T21:14:41+00:00 | user | Edited: umls + 2026-09-07T21:29:26+00:00 | user | Edited: mesh + 2026-09-07T21:38:43+00:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 83728000; confirmed OMOP 4308266; confirmed MONDO 0010012; confirmed ORPHANET 3143; flagged MONDO 0019012; flagged ORPHANET 65759; no term in MESH + 2026-09-07T21:38:43+00:00 | KrishnaTO | Stored confirmed cross-reference: MONDO 0010012; ORPHANET 3143 + 83728000 + 0050168 + C0085860 + 0010012 + E31.0 + No studies found; CONFIRMED NO DATA Sept 2021 + false + 4308266 + 83728000 + C129728 Lauren Young | https://www.linkedin.com/in/lauren-young-798443210/ 2025-02 + APS-2, Schmidt Syndrome - Addison’s disease with thyroid autoimmunity. PAS2 - 2026-06-15 10:37 | Importer | Imported from ARI core reports + 3143 @@ -17049,7 +17086,6 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that - @@ -17064,27 +17100,33 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that + + APS-3 is an overlap disease that primarily includes thyroid diseases (Graves disease, Hashimoto's thyroiditis), diabetes mellitus type 1 and celiac disease. In addition, the disease may include pernicious anemia, alopecia, Sjogren's syndrome, myasthenia gravis and vitiligo. Polyglandular autoimmune syndrome type 3 - false + Antibody + Autoimmune ARI:0001159 - 449731009 - 42709859 - 449731009 - APS-3 is an overlap disease that primarily includes thyroid diseases (Graves disease, Hashimoto's thyroiditis), diabetes mellitus type 1 and celiac disease. In addition, the disease may include pernicious anemia, alopecia, Sjogren's syndrome, myasthenia gravis and vitiligo. Autoimmune polyglandular syndrome type III PAS III PAS 3 Polyglandular deficiency syndrome type 3 Autoimmune polyendocrine syndrome type 3 - No studies found; CONFIRMED NO DATA Sept 2021 - Antibody - Autoimmune 2 - APS-3, Thyroid-Only - Autoimmune thyroiditis without adrenal involvement. + 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-09-07T21:38:43+00:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 449731009; confirmed OMOP 42709859; confirmed MONDO 0016422; confirmed ORPHANET 227982; confirmed UMLS C1535942; no term in DOID; no term in NCI; no term in ICD10; no term in MESH + 2026-09-07T21:38:43+00:00 | KrishnaTO | Stored confirmed cross-reference: MONDO 0016422; ORPHANET 227982; UMLS C1535942 + 449731009 + C1535942 + 0016422 + No studies found; CONFIRMED NO DATA Sept 2021 + false + 42709859 + 449731009 Lauren Young | https://www.linkedin.com/in/lauren-young-798443210/ 2024-06 + APS-3, Thyroid-Only - Autoimmune thyroiditis without adrenal involvement. PAS3 - 2026-06-15 10:37 | Importer | Imported from ARI core reports + 227982 @@ -17173,7 +17215,6 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that - @@ -17195,25 +17236,31 @@ Pemphigus is different from bullous pemphigoid, a blistering skin condition that + + APS-4 is any combination of autoimmune diseases not covered by types 1, 2 or 3. Polyglandular autoimmune syndrome type 4 - false + Antibody + Autoimmune + 8-38 years ARI:0001160 - 449730005 - 42709858 - 449730005 - APS-4 is any combination of autoimmune diseases not covered by types 1, 2 or 3. Multiple autoimmune syndrome Autoimmune polyendocrine syndrome type 4 - No studies found; CONFIRMED NO DATA Sept 2021 - Antibody - Autoimmune 2 - 8-38 years - APS-4, Atypical - Rare forms with varying glandular involvement. + 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-09-07T21:38:43+00:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 449730005; confirmed OMOP 42709858; confirmed MONDO 0016423; confirmed ORPHANET 227990; confirmed UMLS C3266026; no term in DOID; no term in NCI; no term in ICD10; no term in MESH + 2026-09-07T21:38:43+00:00 | KrishnaTO | Stored confirmed cross-reference: MONDO 0016423; ORPHANET 227990; UMLS C3266026 + 449730005 + C3266026 + 0016423 + No studies found; CONFIRMED NO DATA Sept 2021 + false + 42709858 + 449730005 Autoimmune Registry 2024-09 + APS-4, Atypical - Rare forms with varying glandular involvement. PAS4 - 2026-06-15 10:37 | Importer | Imported from ARI core reports + 227990 @@ -23578,14 +23625,28 @@ Some cases of this disease are caused by medications and are not autoimmune.false - + - - Morvan syndrome + Morvan syndrome is a rare, life-threatening autoimmune disorder associated with anti- autoantibodies targeting CASPR2 (CASPR2-IgG). Morvan syndrome is characterized by the combination of severe peripheral nerve hyperexcitability with agrypnia excitata, a sleep disorder characterized by insomnia, behavioral disturbances, and visual hallucinations. There is a clinical overlap with the other autoimmune disorders associated with CASPR2-IgG, such as autoimmune limbic encephalitis, which may also feature behavioral disturbances and insomnia, and Isaacs syndrome (a peripheral nerve hyperexcitability syndrome). However, sleep, motor, and autonomic manifestations are prominent in Morvan syndrome, which also appears to have distinctive immunological features. - https://www.medlink.com/articles/morvan-syndrome-and-related-disorders-associated-with-caspr2-antibodies + Morvan syndrome + ARI:0001213 2026-07-02 15:06 | KrishnaTO | Created: Morvan syndrome + 2026-09-07T19:05:07+00:00 | user | Edited: snomed + 2026-09-07T19:05:36+00:00 | user | Edited: omop + 2026-09-07T19:06:17+00:00 | user | Edited: mondo + 2026-09-07T19:07:29+00:00 | user | Edited: orphanet + 2026-09-07T19:08:27+00:00 | user | Edited: umls + 2026-09-07T19:08:44+00:00 | user | Edited: mesh + 2026-09-07T21:38:43+00:00 | KrishnaTO | Cross-reference review: no term in DOID; no term in NCI; no term in ICD10 + 763803004 + C3854373 + 0008718 + https://www.medlink.com/articles/morvan-syndrome-and-related-disorders-associated-with-caspr2-antibodies + 35622356 + D013595 + 83467