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revised autoinflammatory classification
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lschriml committed Nov 7, 2024
1 parent b468885 commit 9b15701
Showing 1 changed file with 25 additions and 13 deletions.
38 changes: 25 additions & 13 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -134,6 +134,7 @@ Declaration(Class(obo:DOID_0050001))
Declaration(Class(obo:DOID_0050002))
Declaration(Class(obo:DOID_0050003))
Declaration(Class(obo:DOID_0050004))
Declaration(Class(obo:DOID_0050005))
Declaration(Class(obo:DOID_0050007))
Declaration(Class(obo:DOID_0050009))
Declaration(Class(obo:DOID_0050010))
Expand Down Expand Up @@ -15918,6 +15919,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0050004 "seminal vesicle acute gonorrhea
SubClassOf(obo:DOID_0050004 obo:DOID_10400)
SubClassOf(obo:DOID_0050004 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000006))

# Class: obo:DOID_0050005 (autoinflammatory disease)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/") obo:IAO_0000115 obo:DOID_0050005 "A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation.")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050005 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0050005 "DOID:0050005")
AnnotationAssertion(rdfs:label obo:DOID_0050005 "autoinflammatory disease"@en)
SubClassOf(obo:DOID_0050005 obo:DOID_612)
SubClassOf(obo:DOID_0050005 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000061))
SubClassOf(obo:DOID_0050005 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000613))

# Class: obo:DOID_0050007 (obsolete cutaneous strongyloidiasis)

AnnotationAssertion(obo:IAO_0000115 obo:DOID_0050007 "A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas."@en)
Expand Down Expand Up @@ -40830,14 +40841,14 @@ SubClassOf(obo:DOID_0060912 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000093

# Class: obo:DOID_0060913 (proteosome-associated autoinflammatory syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25521013/") obo:IAO_0000115 obo:DOID_0060913 "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25521013/") obo:IAO_0000115 obo:DOID_0060913 "An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060913 "MIM:PS256040")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060913 "ORDO:324977")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060913 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0060913 "DOID:0060913")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060913 doid:DO_rare_slim)
AnnotationAssertion(rdfs:label obo:DOID_0060913 "proteosome-associated autoinflammatory syndrome"@en)
SubClassOf(obo:DOID_0060913 obo:DOID_225)
SubClassOf(obo:DOID_0060913 obo:DOID_0050005)

# Class: obo:DOID_0060914 (proteosome-associated autoinflammatory syndrome 2)

Expand Down Expand Up @@ -60969,13 +60980,13 @@ SubClassOf(obo:DOID_0080943 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0080944 (familial Behcet-like autoinflammatory syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26642243/") obo:IAO_0000115 obo:DOID_0080944 "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23."@en)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26642243/") obo:IAO_0000115 obo:DOID_0080944 "An autoinflammatory disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080944 "MIM:616744")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080944 "A20 haploinsufficiency"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080944 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0080944 "DOID:0080944")
AnnotationAssertion(rdfs:label obo:DOID_0080944 "familial Behcet-like autoinflammatory syndrome"@en)
SubClassOf(obo:DOID_0080944 obo:DOID_612)
SubClassOf(obo:DOID_0080944 obo:DOID_0050005)
SubClassOf(obo:DOID_0080944 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0080945 (abdominal obesity-metabolic syndrome 4)
Expand Down Expand Up @@ -66751,25 +66762,26 @@ AnnotationAssertion(rdfs:label obo:DOID_0090017 "epidermolysis bullosa simplex w
SubClassOf(obo:DOID_0090017 obo:DOID_225)
SubClassOf(obo:DOID_0090017 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))

# Class: obo:DOID_0090018 (autosomal dominant familial periodic fever)
# Class: obo:DOID_0090018 (TNF receptor–associated periodic syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10199409") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7156325") Annotation(oboInOwl:hasDbXref "url:https://www.nomidalliance.org/traps.php") obo:IAO_0000115 obo:DOID_0090018 "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10199409") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7156325") Annotation(oboInOwl:hasDbXref "url:https://www.nomidalliance.org/traps.php") obo:IAO_0000115 obo:DOID_0090018 "An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090018 "GARD:8457")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090018 "ICD10CM:E85.0")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090018 "MIM:142680")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090018 "ORDO:32960")
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090018 "FHF"@en)
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090018 "FPF"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090018 "TNF receptor associated periodic syndrome"@en)
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090018 "TRAPS"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090018 "autosomal dominant familial periodic fever"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090018 "familial Hibernian fever"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090018 "hibernian fever"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090018 "tumor necrosis factor receptor associated periodic syndrome"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090018 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0090018 "DOID:0090018")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0090018 doid:DO_rare_slim)
AnnotationAssertion(rdfs:label obo:DOID_0090018 "autosomal dominant familial periodic fever"@en)
SubClassOf(obo:DOID_0090018 obo:DOID_612)
AnnotationAssertion(rdfs:comment obo:DOID_0090018 "nomenclature change.")
AnnotationAssertion(rdfs:label obo:DOID_0090018 "TNF receptor–associated periodic syndrome"@en)
SubClassOf(obo:DOID_0090018 obo:DOID_0050005)
SubClassOf(obo:DOID_0090018 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0090019 (sitosterolemia 1)
Expand Down Expand Up @@ -67425,7 +67437,7 @@ SubClassOf(obo:DOID_0090060 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000296

# Class: obo:DOID_0090061 (familial cold autoinflammatory syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome") Annotation(oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/") Annotation(oboInOwl:hasDbXref "url:https://www.nomidalliance.org/fcas.php") obo:IAO_0000115 obo:DOID_0090061 "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome") Annotation(oboInOwl:hasDbXref "url:https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/") Annotation(oboInOwl:hasDbXref "url:https://www.nomidalliance.org/fcas.php") obo:IAO_0000115 obo:DOID_0090061 "An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090061 "ICD10CM:L50.2")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090061 "MIM:PS120100")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090061 "ORDO:47045")
Expand All @@ -67434,7 +67446,7 @@ AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090061 "disease_ontology"
AnnotationAssertion(oboInOwl:id obo:DOID_0090061 "DOID:0090061")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0090061 doid:DO_rare_slim)
AnnotationAssertion(rdfs:label obo:DOID_0090061 "familial cold autoinflammatory syndrome"@en)
SubClassOf(obo:DOID_0090061 obo:DOID_612)
SubClassOf(obo:DOID_0090061 obo:DOID_0050005)

# Class: obo:DOID_0090062 (familial cold autoinflammatory syndrome 1)

Expand Down Expand Up @@ -150586,7 +150598,7 @@ SubClassOf(obo:DOID_2986 obo:DOID_2921)

# Class: obo:DOID_2987 (familial Mediterranean fever)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_Mediterranean_fever") Annotation(oboInOwl:hasDbXref "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract") obo:IAO_0000115 obo:DOID_2987 "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Familial_Mediterranean_fever") Annotation(oboInOwl:hasDbXref "url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract") obo:IAO_0000115 obo:DOID_2987 "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2987 "GARD:6421")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2987 "ICD10CM:M04.1")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2987 "ICD9CM:277.31")
Expand All @@ -150606,7 +150618,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_2987 doid:NCIthesaurus)
AnnotationAssertion(rdfs:comment obo:DOID_2987 "Xref MGI.
OMIM mapping confirmed by DO. [SN]."@en)
AnnotationAssertion(rdfs:label obo:DOID_2987 "familial Mediterranean fever"@en)
SubClassOf(obo:DOID_2987 obo:DOID_417)
SubClassOf(obo:DOID_2987 obo:DOID_0050005)
SubClassOf(obo:DOID_2987 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000934))
SubClassOf(obo:DOID_2987 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000061))

Expand Down

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