From 8ddbd6e09b8c24956e185deff47a9590cce48216 Mon Sep 17 00:00:00 2001 From: Asiyah Yu Lin Date: Thu, 20 Aug 2026 13:04:31 -0400 Subject: [PATCH 1/3] [ARI:0001090] - mappings review --- mappings/ari.equivalencies.tsv | 2 + mappings/ari.sssom.tsv | 2 + ontologies/ari_t1d.owl | 146 +-------------------------------- 3 files changed, 5 insertions(+), 145 deletions(-) diff --git a/mappings/ari.equivalencies.tsv b/mappings/ari.equivalencies.tsv index 8b41707..d32a577 100644 --- a/mappings/ari.equivalencies.tsv +++ b/mappings/ari.equivalencies.tsv @@ -500,3 +500,5 @@ ARI 0001143 Neuromyelitis optica skos:exactMatch icd10cm G36.0 manual github:aar ARI 0001143 Neuromyelitis optica skos:exactMatch ORPHA 71211 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch mesh D009471 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch OMIM NoTermFound manual-absent github:aaronabend +ARI 0001090 Essential mixed cryoglobulinemia skos:exactMatch MONDO 0007407 manual github:linikujp +ARI 0001090 Essential mixed cryoglobulinemia skos:exactMatch ORPHA 91138 manual github:linikujp diff --git a/mappings/ari.sssom.tsv b/mappings/ari.sssom.tsv index 7f98369..bbe238c 100644 --- a/mappings/ari.sssom.tsv +++ b/mappings/ari.sssom.tsv @@ -520,3 +520,5 @@ ARI:0001143 Neuromyelitis optica skos:exactMatch icd10cm:G36.0 icd10cm semapv:M ARI:0001143 Neuromyelitis optica skos:exactMatch ORPHA:71211 ORPHA semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch mesh:D009471 mesh semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch sssom:NoTermFound OMIM semapv:ManualMappingCuration github:aaronabend 2026-08-17 +ARI:0001090 Essential mixed cryoglobulinemia skos:exactMatch MONDO:0007407 MONDO semapv:ManualMappingCuration github:linikujp 2026-08-20 +ARI:0001090 Essential mixed cryoglobulinemia skos:exactMatch ORPHA:91138 ORPHA semapv:ManualMappingCuration github:linikujp 2026-08-20 diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index 32dc306..fa878e3 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -3653,27 +3653,6 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit 2024-04 APA 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed SNOMED 306058006; confirmed OMOP 137829; confirmed DOID 12449; confirmed MONDO 0015909; confirmed NCI C2870; confirmed ICD10 D61.9; confirmed OMIM 609135; confirmed UMLS C0002874; confirmed MESH D000741; flagged ORPHANET 182040 - Aplastic Anemias - Aplastic anemia, unspecified - Aplastic Anaemia - Anemia, Aplastic - Aplastic Anaemias - Anaemia, Aplastic - idiopathic aplastic anemia - subtype of Aplastic anemia (MONDO:0012197) - Recurrent Aplastic Anemia - subtype of Aplastic anemia (NCIT:C153293) - acquired aplastic anemia - subtype of Aplastic anemia (MONDO:0015610) - congenital hypoplastic anemia - subtype of Aplastic anemia (DOID:1342) - Aplastic Anemia due to Infection - subtype of Aplastic anemia (NCIT:C35466) - Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C61229) - inherited aplastic anemia - subtype of Aplastic anemia (MONDO:0001713) - myelophthisic anemia - subtype of Aplastic anemia (MONDO:0005868) - Very Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C173788) - Non-Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C173789) - Aplastic Anemia due to Radiation - subtype of Aplastic anemia (NCIT:C35465) - Drug/Toxin-Induced Aplastic Anemia - subtype of Aplastic anemia (NCIT:C70613) - Drug-Induced Aplastic Anemia - subtype of Aplastic anemia (NCIT:C35343) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +6 synonym(s), +13 clinical subtype(s) @@ -6466,26 +6445,6 @@ The first reports of narcolepsy being an autoimmune disease came in 2013, but re 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 193042000; confirmed OMOP 437854; confirmed MONDO 0016158; confirmed ICD10 G47.411; confirmed ORPHANET 2073; confirmed UMLS C0751362; flagged SNOMED 735676003; flagged OMOP 42536721 193042000 437854 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed NCI C196015; confirmed OMIM 161400; confirmed MESH D009290; flagged DOID 8986; no term in DOID - Narcoleptic Syndrome - Syndrome, Gelineau's - Syndromes, Gelineau's - Syndromes, Narcoleptic - Gelineau's Syndromes - Gelineaus Syndrome - paroxysmal sleep - Syndrome, Narcoleptic - Sleep, Paroxysmal - narcolepsy - Narcoleptic Syndromes - narcolepsy with or without cataplexy - Syndrome, Gelineau - Narcolepsy, without cataplexy - Gelineau Syndrome - Gelineau's Syndrome - hereditary narcolepsy - subtype of Cataplexy and narcolepsy (MONDO:0100554) - narcolepsy-cataplexy syndrome - subtype of Cataplexy and narcolepsy (MONDO:0016158) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +16 synonym(s), +2 clinical subtype(s) @@ -6868,7 +6827,6 @@ The cause of this syndrome is unknown, however, researchers believe that it may 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -6965,7 +6923,6 @@ The cause of this syndrome is unknown, however, researchers believe that it may 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 128209004; confirmed OMOP 381009; confirmed DOID 5213; confirmed MONDO 0006702; confirmed NCI C84636; confirmed ICD10 G61.81; confirmed ORPHANET 2932; confirmed UMLS C0393819; confirmed MESH D020277; flagged SNOMED 230564004; flagged OMOP 4048024; flagged ICD10 357.81 128209004 381009 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7088,7 +7045,6 @@ Currently, the cause of interstitial cystitis is unknown. There are two main the 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7230,17 +7186,6 @@ However, in some people, the Lyme disease triggers symptoms similar to rheumatoi 2026-08-03 18:00 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 2026-08-03 18:15 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 2026-08-12 01:11 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed MONDO 0700280; confirmed NCI C119039; confirmed UMLS C3890422; confirmed MESH D000077342; no term in ORPHANET; no term in DOID; no term in SNOMED; no term in ICD10; no term in OMIM - Syndromes, Post-Lyme Disease - PTLDS - disorder due to consequences of Lyme disease - post-Lyme disease - Post-Lyme Disease Syndromes - Syndrome, Post-Lyme Disease - Lyme Disease, Chronic - post-Lyme disease syndrome - post-treatment Lyme disease syndrome - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +9 synonym(s) @@ -7453,7 +7398,6 @@ Chronic non-bacterial osteomyelitis (CNO) is a rare auto-inflammatory bone disor 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7685,7 +7629,6 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in ORPHANET; no term in OMIM @@ -7798,10 +7741,6 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed DOID 0060216; confirmed MONDO 0015453; confirmed UMLS C0271270; no term in NCI; no term in OMIM - Cogan syndrome - diffuse interstitual keratitis - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +2 synonym(s) @@ -7973,29 +7912,6 @@ More study is needed. 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 398937006; confirmed OMOP 4160887; confirmed MONDO 0018922; confirmed NCI C208228; confirmed ICD10 D59.12; confirmed ORPHANET 56425; confirmed UMLS C0175816; flagged SNOMED 127055007; flagged OMOP 4131128 398937006 4160887 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed MESH D000744; no term in OMIM; no term in DOID - Anaemia, Autoimmune Haemolytic - Autoimmune Haemolytic Anaemias - AIHA - Autoimmune haemolytic anaemia - Autoimmune Hemolytic Anemias - autoimmune haemolytic anemia - autoimmune hemolytic anaemia - autoimmune hemolytic anemia - Anemia, Hemolytic, Autoimmune - AHA - Anemia, Hemolytic, Acquired Autoimmune - Hemolytic Anemia, Autoimmune - Haemolytic Anaemia, Autoimmune - Anemia, Autoimmune Hemolytic - Evans syndrome - subtype of Cold agglutinin disease (MONDO:0016030) - neonatal autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0018358) - drug-induced autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0019535) - giant cell hepatitis with autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:1060166) - autoimmune hemolytic anemia, warm type - subtype of Cold agglutinin disease (MONDO:0019532) - autoimmune hemolytic anemia, cold type - subtype of Cold agglutinin disease (MONDO:0016450) - mixed-type autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0019534) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +14 synonym(s), +7 clinical subtype(s) @@ -8129,10 +8045,6 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed NCI C176809; no term in ICD10; no term in MESH - Immunodeficiency, Common Variable, 8, with Autoimmunity - CVID8 - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +2 synonym(s) @@ -8196,11 +8108,6 @@ More study is needed. 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 128200000; confirmed OMOP 4134577; confirmed DOID 3223; confirmed MONDO 0019369; confirmed NCI C206547; confirmed ORPHANET 83452; confirmed UMLS C0458219; confirmed MESH D020918; flagged SNOMED 408751001, 734947007; flagged OMOP 42536233, 4256912 128200000 4134577 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed OMIM 604335; confirmed ICD10 M89.0 - algoneurodystrophy - complex regional pain syndrome type 2 - subtype of Complex regional pain syndrome (MONDO:0020572) - complex regional pain syndrome type 1 - subtype of Complex regional pain syndrome (MONDO:0011441) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +1 synonym(s), +2 clinical subtype(s) @@ -8371,24 +8278,6 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen C2965 2026-08-12 01:01 | user | Edited: nci 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 34000006; confirmed MONDO 0005011; confirmed DOID 8778; flagged ICD10 555.1 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed ICD10 K50; confirmed NCI C2965; confirmed OMOP 201606; confirmed ORPHANET 206; confirmed MESH D003424 - paediatric Crohn's disease - Crohn disease - NON RARE IN EUROPE: Crohn disease - pediatric Crohn's disease - Inflammatory Bowel Disease 1 - Crohn's Enteritis - regional enteritis - Crohn's disease of large bowel - Crohns Disease - perianal Crohn disease - subtype of Crohn's disease (MONDO:0005537) - Crohn Disease of Rectum - subtype of Crohn's disease (NCIT:C219892) - Crohn disease of the esophagus - subtype of Crohn's disease (MONDO:0022901) - Crohn Colitis - subtype of Crohn's disease (NCIT:C35211) - small bowel Crohn disease - subtype of Crohn's disease (MONDO:0005539) - oral Crohn disease - subtype of Crohn's disease (MONDO:0005535) - Crohn Disease of Small Intestine - subtype of Crohn's disease (NCIT:C35210) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +9 synonym(s), +7 clinical subtype(s) @@ -8507,28 +8396,6 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen 2024-09 COP 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed SNOMED 719218000; confirmed OMOP 36714118; confirmed DOID 2797; confirmed MONDO 0015264; confirmed ORPHANET 1302; no term in OMIM - noninfectious pneumonia - Idiopathic fibrosing alveolitis - bronchiolitis obliterans organizing pneumonia - Organizing Pneumonia - cryptogenic organizing pneumonitis - Diffuse idiopathic pulmonary fibrosis - idiopathic interstitial pneumonitis - COP - BOOP - organising pneumonia - respiratory bronchiolitis-interstitial lung disease syndrome - subtype of Cryptogenic organizing pneumonia (MONDO:0019204) - idiopathic pulmonary fibrosis - subtype of Cryptogenic organizing pneumonia (MONDO:0800504) - combined pulmonary fibrosis-emphysema syndrome - subtype of Cryptogenic organizing pneumonia (MONDO:0017591) - desquamative interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:0050158) - nonspecific interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:2801) - follicular bronchiolits - subtype of Cryptogenic organizing pneumonia (MONDO:0800114) - non-specific interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (MONDO:0019622) - acute interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:2800) - idiopathic pleuroparenchymal fibroelastosis - subtype of Cryptogenic organizing pneumonia (MONDO:0044633) - lymphoid interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:0050159) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +10 synonym(s), +10 clinical subtype(s) @@ -8614,17 +8481,6 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen 2026-06-15 10:37 | Importer | Imported from ARI core reports 7119001 4324123 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed DOID 0050169; confirmed MONDO 0005282; confirmed NCI C26819; confirmed UMLS C0024137; confirmed MESH D008178; no term in OMIM - Lupus Erythematosus, Cutaneous - subacute cutaneous lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0015573) - chronic cutaneous lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0015574) - Systemic Lupus Erythematosus Rash - subtype of Cutaneous lupus erythematosus (NCIT:C27171) - bullous systemic lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0044113) - Lupus Erythematosus Tumidus - subtype of Cutaneous lupus erythematosus (NCIT:C117112) - Rowell syndrome - subtype of Cutaneous lupus erythematosus (MONDO:0041186) - Drug Induced Cutaneous Lupus Erythematosus - subtype of Cutaneous lupus erythematosus (NCIT:C112203) - Chilblain lupus - subtype of Cutaneous lupus erythematosus (DOID:0060386) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +1 synonym(s), +8 clinical subtype(s) @@ -9862,6 +9718,7 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis 2024-09 EMC 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-20 17:04 | linikujp | Cross-reference review: confirmed MONDO 0007407; confirmed ORPHANET 91138 @@ -15054,7 +14911,6 @@ The specific location of vasculitis inflammation determines what tissue or organ 2024-09 NMO 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-17 18:32 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM From c334746f8b248b2d78af00c923c69d4ec8faed2a Mon Sep 17 00:00:00 2001 From: Asiyah Yu Lin Date: Fri, 21 Aug 2026 13:28:24 -0400 Subject: [PATCH 2/3] [ARI:0001019, ARI:0001090] - mappings review --- mappings/ari.equivalencies.tsv | 2 + mappings/ari.sssom.tsv | 6 +- ontologies/ari_t1d.owl | 148 ++++++++++++++++++++++++++++++++- 3 files changed, 153 insertions(+), 3 deletions(-) diff --git a/mappings/ari.equivalencies.tsv b/mappings/ari.equivalencies.tsv index d32a577..2b190bd 100644 --- a/mappings/ari.equivalencies.tsv +++ b/mappings/ari.equivalencies.tsv @@ -500,5 +500,7 @@ ARI 0001143 Neuromyelitis optica skos:exactMatch icd10cm G36.0 manual github:aar ARI 0001143 Neuromyelitis optica skos:exactMatch ORPHA 71211 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch mesh D009471 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch OMIM NoTermFound manual-absent github:aaronabend +ARI 0001019 Antisynthetase syndrome skos:exactMatch MONDO 0019344 manual github:linikujp +ARI 0001019 Antisynthetase syndrome skos:exactMatch ORPHA 81 manual github:linikujp ARI 0001090 Essential mixed cryoglobulinemia skos:exactMatch MONDO 0007407 manual github:linikujp ARI 0001090 Essential mixed cryoglobulinemia skos:exactMatch ORPHA 91138 manual github:linikujp diff --git a/mappings/ari.sssom.tsv b/mappings/ari.sssom.tsv index bbe238c..a1e8681 100644 --- a/mappings/ari.sssom.tsv +++ b/mappings/ari.sssom.tsv @@ -520,5 +520,7 @@ ARI:0001143 Neuromyelitis optica skos:exactMatch icd10cm:G36.0 icd10cm semapv:M ARI:0001143 Neuromyelitis optica skos:exactMatch ORPHA:71211 ORPHA semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch mesh:D009471 mesh semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch sssom:NoTermFound OMIM semapv:ManualMappingCuration github:aaronabend 2026-08-17 -ARI:0001090 Essential mixed cryoglobulinemia skos:exactMatch MONDO:0007407 MONDO semapv:ManualMappingCuration github:linikujp 2026-08-20 -ARI:0001090 Essential mixed cryoglobulinemia skos:exactMatch ORPHA:91138 ORPHA semapv:ManualMappingCuration github:linikujp 2026-08-20 +ARI:0001019 Antisynthetase syndrome skos:exactMatch MONDO:0019344 MONDO semapv:ManualMappingCuration github:linikujp 2026-08-21 +ARI:0001019 Antisynthetase syndrome skos:exactMatch ORPHA:81 ORPHA semapv:ManualMappingCuration github:linikujp 2026-08-21 +ARI:0001090 Essential mixed cryoglobulinemia skos:exactMatch MONDO:0007407 MONDO semapv:ManualMappingCuration github:linikujp 2026-08-21 +ARI:0001090 Essential mixed cryoglobulinemia skos:exactMatch ORPHA:91138 ORPHA semapv:ManualMappingCuration github:linikujp 2026-08-21 diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index fa878e3..d527d72 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -3526,6 +3526,7 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit 2024-09 ASY 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-21 17:28 | linikujp | Cross-reference review: confirmed MONDO 0019344; confirmed ORPHANET 81 @@ -3653,6 +3654,27 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit 2024-04 APA 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed SNOMED 306058006; confirmed OMOP 137829; confirmed DOID 12449; confirmed MONDO 0015909; confirmed NCI C2870; confirmed ICD10 D61.9; confirmed OMIM 609135; confirmed UMLS C0002874; confirmed MESH D000741; flagged ORPHANET 182040 + Aplastic Anemias + Aplastic anemia, unspecified + Aplastic Anaemia + Anemia, Aplastic + Aplastic Anaemias + Anaemia, Aplastic + idiopathic aplastic anemia - subtype of Aplastic anemia (MONDO:0012197) + Recurrent Aplastic Anemia - subtype of Aplastic anemia (NCIT:C153293) + acquired aplastic anemia - subtype of Aplastic anemia (MONDO:0015610) + congenital hypoplastic anemia - subtype of Aplastic anemia (DOID:1342) + Aplastic Anemia due to Infection - subtype of Aplastic anemia (NCIT:C35466) + Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C61229) + inherited aplastic anemia - subtype of Aplastic anemia (MONDO:0001713) + myelophthisic anemia - subtype of Aplastic anemia (MONDO:0005868) + Very Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C173788) + Non-Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C173789) + Aplastic Anemia due to Radiation - subtype of Aplastic anemia (NCIT:C35465) + Drug/Toxin-Induced Aplastic Anemia - subtype of Aplastic anemia (NCIT:C70613) + Drug-Induced Aplastic Anemia - subtype of Aplastic anemia (NCIT:C35343) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +6 synonym(s), +13 clinical subtype(s) @@ -6445,6 +6467,26 @@ The first reports of narcolepsy being an autoimmune disease came in 2013, but re 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 193042000; confirmed OMOP 437854; confirmed MONDO 0016158; confirmed ICD10 G47.411; confirmed ORPHANET 2073; confirmed UMLS C0751362; flagged SNOMED 735676003; flagged OMOP 42536721 193042000 437854 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed NCI C196015; confirmed OMIM 161400; confirmed MESH D009290; flagged DOID 8986; no term in DOID + Narcoleptic Syndrome + Syndrome, Gelineau's + Syndromes, Gelineau's + Syndromes, Narcoleptic + Gelineau's Syndromes + Gelineaus Syndrome + paroxysmal sleep + Syndrome, Narcoleptic + Sleep, Paroxysmal + narcolepsy + Narcoleptic Syndromes + narcolepsy with or without cataplexy + Syndrome, Gelineau + Narcolepsy, without cataplexy + Gelineau Syndrome + Gelineau's Syndrome + hereditary narcolepsy - subtype of Cataplexy and narcolepsy (MONDO:0100554) + narcolepsy-cataplexy syndrome - subtype of Cataplexy and narcolepsy (MONDO:0016158) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +16 synonym(s), +2 clinical subtype(s) @@ -6827,6 +6869,7 @@ The cause of this syndrome is unknown, however, researchers believe that it may 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -6923,6 +6966,7 @@ The cause of this syndrome is unknown, however, researchers believe that it may 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 128209004; confirmed OMOP 381009; confirmed DOID 5213; confirmed MONDO 0006702; confirmed NCI C84636; confirmed ICD10 G61.81; confirmed ORPHANET 2932; confirmed UMLS C0393819; confirmed MESH D020277; flagged SNOMED 230564004; flagged OMOP 4048024; flagged ICD10 357.81 128209004 381009 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7045,6 +7089,7 @@ Currently, the cause of interstitial cystitis is unknown. There are two main the 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7186,6 +7231,17 @@ However, in some people, the Lyme disease triggers symptoms similar to rheumatoi 2026-08-03 18:00 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 2026-08-03 18:15 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 2026-08-12 01:11 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed MONDO 0700280; confirmed NCI C119039; confirmed UMLS C3890422; confirmed MESH D000077342; no term in ORPHANET; no term in DOID; no term in SNOMED; no term in ICD10; no term in OMIM + Syndromes, Post-Lyme Disease + PTLDS + disorder due to consequences of Lyme disease + post-Lyme disease + Post-Lyme Disease Syndromes + Syndrome, Post-Lyme Disease + Lyme Disease, Chronic + post-Lyme disease syndrome + post-treatment Lyme disease syndrome + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +9 synonym(s) @@ -7398,6 +7454,7 @@ Chronic non-bacterial osteomyelitis (CNO) is a rare auto-inflammatory bone disor 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7629,6 +7686,7 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in ORPHANET; no term in OMIM @@ -7741,6 +7799,10 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed DOID 0060216; confirmed MONDO 0015453; confirmed UMLS C0271270; no term in NCI; no term in OMIM + Cogan syndrome + diffuse interstitual keratitis + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +2 synonym(s) @@ -7912,6 +7974,29 @@ More study is needed. 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 398937006; confirmed OMOP 4160887; confirmed MONDO 0018922; confirmed NCI C208228; confirmed ICD10 D59.12; confirmed ORPHANET 56425; confirmed UMLS C0175816; flagged SNOMED 127055007; flagged OMOP 4131128 398937006 4160887 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed MESH D000744; no term in OMIM; no term in DOID + Anaemia, Autoimmune Haemolytic + Autoimmune Haemolytic Anaemias + AIHA + Autoimmune haemolytic anaemia + Autoimmune Hemolytic Anemias + autoimmune haemolytic anemia + autoimmune hemolytic anaemia + autoimmune hemolytic anemia + Anemia, Hemolytic, Autoimmune + AHA + Anemia, Hemolytic, Acquired Autoimmune + Hemolytic Anemia, Autoimmune + Haemolytic Anaemia, Autoimmune + Anemia, Autoimmune Hemolytic + Evans syndrome - subtype of Cold agglutinin disease (MONDO:0016030) + neonatal autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0018358) + drug-induced autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0019535) + giant cell hepatitis with autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:1060166) + autoimmune hemolytic anemia, warm type - subtype of Cold agglutinin disease (MONDO:0019532) + autoimmune hemolytic anemia, cold type - subtype of Cold agglutinin disease (MONDO:0016450) + mixed-type autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0019534) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +14 synonym(s), +7 clinical subtype(s) @@ -8045,6 +8130,10 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed NCI C176809; no term in ICD10; no term in MESH + Immunodeficiency, Common Variable, 8, with Autoimmunity + CVID8 + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +2 synonym(s) @@ -8108,6 +8197,11 @@ More study is needed. 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 128200000; confirmed OMOP 4134577; confirmed DOID 3223; confirmed MONDO 0019369; confirmed NCI C206547; confirmed ORPHANET 83452; confirmed UMLS C0458219; confirmed MESH D020918; flagged SNOMED 408751001, 734947007; flagged OMOP 42536233, 4256912 128200000 4134577 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed OMIM 604335; confirmed ICD10 M89.0 + algoneurodystrophy + complex regional pain syndrome type 2 - subtype of Complex regional pain syndrome (MONDO:0020572) + complex regional pain syndrome type 1 - subtype of Complex regional pain syndrome (MONDO:0011441) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +1 synonym(s), +2 clinical subtype(s) @@ -8278,6 +8372,24 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen C2965 2026-08-12 01:01 | user | Edited: nci 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 34000006; confirmed MONDO 0005011; confirmed DOID 8778; flagged ICD10 555.1 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed ICD10 K50; confirmed NCI C2965; confirmed OMOP 201606; confirmed ORPHANET 206; confirmed MESH D003424 + paediatric Crohn's disease + Crohn disease + NON RARE IN EUROPE: Crohn disease + pediatric Crohn's disease + Inflammatory Bowel Disease 1 + Crohn's Enteritis + regional enteritis + Crohn's disease of large bowel + Crohns Disease + perianal Crohn disease - subtype of Crohn's disease (MONDO:0005537) + Crohn Disease of Rectum - subtype of Crohn's disease (NCIT:C219892) + Crohn disease of the esophagus - subtype of Crohn's disease (MONDO:0022901) + Crohn Colitis - subtype of Crohn's disease (NCIT:C35211) + small bowel Crohn disease - subtype of Crohn's disease (MONDO:0005539) + oral Crohn disease - subtype of Crohn's disease (MONDO:0005535) + Crohn Disease of Small Intestine - subtype of Crohn's disease (NCIT:C35210) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +9 synonym(s), +7 clinical subtype(s) @@ -8396,6 +8508,28 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen 2024-09 COP 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed SNOMED 719218000; confirmed OMOP 36714118; confirmed DOID 2797; confirmed MONDO 0015264; confirmed ORPHANET 1302; no term in OMIM + noninfectious pneumonia + Idiopathic fibrosing alveolitis + bronchiolitis obliterans organizing pneumonia + Organizing Pneumonia + cryptogenic organizing pneumonitis + Diffuse idiopathic pulmonary fibrosis + idiopathic interstitial pneumonitis + COP + BOOP + organising pneumonia + respiratory bronchiolitis-interstitial lung disease syndrome - subtype of Cryptogenic organizing pneumonia (MONDO:0019204) + idiopathic pulmonary fibrosis - subtype of Cryptogenic organizing pneumonia (MONDO:0800504) + combined pulmonary fibrosis-emphysema syndrome - subtype of Cryptogenic organizing pneumonia (MONDO:0017591) + desquamative interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:0050158) + nonspecific interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:2801) + follicular bronchiolits - subtype of Cryptogenic organizing pneumonia (MONDO:0800114) + non-specific interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (MONDO:0019622) + acute interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:2800) + idiopathic pleuroparenchymal fibroelastosis - subtype of Cryptogenic organizing pneumonia (MONDO:0044633) + lymphoid interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:0050159) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +10 synonym(s), +10 clinical subtype(s) @@ -8481,6 +8615,17 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen 2026-06-15 10:37 | Importer | Imported from ARI core reports 7119001 4324123 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed DOID 0050169; confirmed MONDO 0005282; confirmed NCI C26819; confirmed UMLS C0024137; confirmed MESH D008178; no term in OMIM + Lupus Erythematosus, Cutaneous + subacute cutaneous lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0015573) + chronic cutaneous lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0015574) + Systemic Lupus Erythematosus Rash - subtype of Cutaneous lupus erythematosus (NCIT:C27171) + bullous systemic lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0044113) + Lupus Erythematosus Tumidus - subtype of Cutaneous lupus erythematosus (NCIT:C117112) + Rowell syndrome - subtype of Cutaneous lupus erythematosus (MONDO:0041186) + Drug Induced Cutaneous Lupus Erythematosus - subtype of Cutaneous lupus erythematosus (NCIT:C112203) + Chilblain lupus - subtype of Cutaneous lupus erythematosus (DOID:0060386) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +1 synonym(s), +8 clinical subtype(s) @@ -9718,7 +9863,7 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis 2024-09 EMC 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-20 17:04 | linikujp | Cross-reference review: confirmed MONDO 0007407; confirmed ORPHANET 91138 + 2026-08-21 17:28 | linikujp | Cross-reference review: confirmed MONDO 0007407; confirmed ORPHANET 91138 @@ -14911,6 +15056,7 @@ The specific location of vasculitis inflammation determines what tissue or organ 2024-09 NMO 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-17 18:32 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM From 989d3bbd54b2e067eb45af7ab2b221c3ca2fc147 Mon Sep 17 00:00:00 2001 From: Asiyah Yu Lin Date: Fri, 21 Aug 2026 13:35:54 -0400 Subject: [PATCH 3/3] [ARI:0001019, ARI:0001090, ARI:0001098] - mappings review --- mappings/ari.equivalencies.tsv | 6 ++++-- mappings/ari.sssom.tsv | 6 ++++-- ontologies/ari_t1d.owl | 5 +++-- 3 files changed, 11 insertions(+), 6 deletions(-) diff --git a/mappings/ari.equivalencies.tsv b/mappings/ari.equivalencies.tsv index 2b190bd..7d46628 100644 --- a/mappings/ari.equivalencies.tsv +++ b/mappings/ari.equivalencies.tsv @@ -500,7 +500,9 @@ ARI 0001143 Neuromyelitis optica skos:exactMatch icd10cm G36.0 manual github:aar ARI 0001143 Neuromyelitis optica skos:exactMatch ORPHA 71211 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch mesh D009471 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch OMIM NoTermFound manual-absent github:aaronabend -ARI 0001019 Antisynthetase syndrome skos:exactMatch MONDO 0019344 manual github:linikujp -ARI 0001019 Antisynthetase syndrome skos:exactMatch ORPHA 81 manual github:linikujp +ARI 0001098 Hemophilia B Leyden skos:exactMatch MONDO 0850054 manual github:linikujp +ARI 0001098 Hemophilia B Leyden skos:exactMatch ORPHA 617930 manual github:linikujp ARI 0001090 Essential mixed cryoglobulinemia skos:exactMatch MONDO 0007407 manual github:linikujp ARI 0001090 Essential mixed cryoglobulinemia skos:exactMatch ORPHA 91138 manual github:linikujp +ARI 0001019 Antisynthetase syndrome skos:exactMatch MONDO 0019344 manual github:linikujp +ARI 0001019 Antisynthetase syndrome skos:exactMatch ORPHA 81 manual github:linikujp diff --git a/mappings/ari.sssom.tsv b/mappings/ari.sssom.tsv index a1e8681..862833c 100644 --- a/mappings/ari.sssom.tsv +++ b/mappings/ari.sssom.tsv @@ -520,7 +520,9 @@ ARI:0001143 Neuromyelitis optica skos:exactMatch icd10cm:G36.0 icd10cm semapv:M ARI:0001143 Neuromyelitis optica skos:exactMatch ORPHA:71211 ORPHA semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch mesh:D009471 mesh semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch sssom:NoTermFound OMIM semapv:ManualMappingCuration github:aaronabend 2026-08-17 -ARI:0001019 Antisynthetase syndrome skos:exactMatch MONDO:0019344 MONDO semapv:ManualMappingCuration github:linikujp 2026-08-21 -ARI:0001019 Antisynthetase syndrome skos:exactMatch ORPHA:81 ORPHA semapv:ManualMappingCuration github:linikujp 2026-08-21 +ARI:0001098 Hemophilia B Leyden skos:exactMatch MONDO:0850054 MONDO semapv:ManualMappingCuration github:linikujp 2026-08-21 +ARI:0001098 Hemophilia B Leyden skos:exactMatch ORPHA:617930 ORPHA semapv:ManualMappingCuration github:linikujp 2026-08-21 ARI:0001090 Essential mixed cryoglobulinemia skos:exactMatch MONDO:0007407 MONDO semapv:ManualMappingCuration github:linikujp 2026-08-21 ARI:0001090 Essential mixed cryoglobulinemia skos:exactMatch ORPHA:91138 ORPHA semapv:ManualMappingCuration github:linikujp 2026-08-21 +ARI:0001019 Antisynthetase syndrome skos:exactMatch MONDO:0019344 MONDO semapv:ManualMappingCuration github:linikujp 2026-08-21 +ARI:0001019 Antisynthetase syndrome skos:exactMatch ORPHA:81 ORPHA semapv:ManualMappingCuration github:linikujp 2026-08-21 diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index d527d72..890f5fe 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -3526,7 +3526,7 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit 2024-09 ASY 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-21 17:28 | linikujp | Cross-reference review: confirmed MONDO 0019344; confirmed ORPHANET 81 + 2026-08-21 17:35 | linikujp | Cross-reference review: confirmed MONDO 0019344; confirmed ORPHANET 81 @@ -9863,7 +9863,7 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis 2024-09 EMC 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-21 17:28 | linikujp | Cross-reference review: confirmed MONDO 0007407; confirmed ORPHANET 91138 + 2026-08-21 17:35 | linikujp | Cross-reference review: confirmed MONDO 0007407; confirmed ORPHANET 91138 @@ -10843,6 +10843,7 @@ ASA is not a concern except for people trying to conceive. 1% of all cases of hemophilia B; NR 2.1 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-21 17:35 | linikujp | Cross-reference review: confirmed MONDO 0850054; confirmed ORPHANET 617930