Skip to content

Commit

Permalink
Add APLAID (DOID:0070615) & FACS synonyms
Browse files Browse the repository at this point in the history 
Closes #1387
  • Loading branch information
@allenbaron
allenbaron committed Oct 30, 2024
1 parent 164e98f commit 91b6833
Showing 1 changed file with 28 additions and 0 deletions.
28 changes: 28 additions & 0 deletions src/ontology/doid-edit.owl
View file
Original file line number Diff line number Diff line change
Expand Up @@ -2593,6 +2593,7 @@ Declaration(Class(obo:DOID_0070611))
Declaration(Class(obo:DOID_0070612))
Declaration(Class(obo:DOID_0070613))
Declaration(Class(obo:DOID_0070614))
Declaration(Class(obo:DOID_0070615))
Declaration(Class(obo:DOID_0080000))
Declaration(Class(obo:DOID_0080001))
Declaration(Class(obo:DOID_0080005))
Expand Down Expand Up @@ -50044,6 +50045,24 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070614 "SNOMEDCT_US_2023_03_01:726
AnnotationAssertion(skos:exactMatch obo:DOID_0070614 "UMLS_CUI:C4518499")
SubClassOf(obo:DOID_0070614 obo:DOID_0060429)

# Class: obo:DOID_0070615 (autoinflammation, antibody deficiency, and immune dysregulation syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23000145/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30619256/") obo:IAO_0000115 obo:DOID_0070615 "An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070615 "GARD:17486")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070615 "MIM:614878")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070615 "ORDO:324530")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070615 "UMLS_CUI:C3553961")
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070615 "APLAID"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070615 "autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070615 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070615 "DOID:0070615")
AnnotationAssertion(rdfs:label obo:DOID_0070615 "autoinflammation, antibody deficiency, and immune dysregulation syndrome"@en)
AnnotationAssertion(skos:exactMatch obo:DOID_0070615 "GARD:17486")
AnnotationAssertion(skos:exactMatch obo:DOID_0070615 "MIM:614878")
AnnotationAssertion(skos:exactMatch obo:DOID_0070615 "ORDO:324530")
AnnotationAssertion(skos:exactMatch obo:DOID_0070615 "UMLS_CUI:C3553961")
SubClassOf(obo:DOID_0070615 obo:DOID_612)

# Class: obo:DOID_0080000 (muscular disease)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles."@en)
Expand Down Expand Up @@ -67276,6 +67295,7 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090062 "ICD10CM:L50.2")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090062 "MIM:120100")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090062 "ORDO:47045")
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090062 "FCAS1"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090062 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0090062 "DOID:0090062")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0090062 doid:DO_rare_slim)
Expand All @@ -67288,6 +67308,7 @@ SubClassOf(obo:DOID_0090062 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18230725") obo:IAO_0000115 obo:DOID_0090063 "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090063 "MESH:C567090")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090063 "MIM:611762")
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090063 "FCAS2"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090063 "NLRP12-associated hereditary periodic fever syndrome"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090063 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0090063 "DOID:0090063")
Expand All @@ -67301,6 +67322,12 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090064 "ICD10CM:L50.2")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090064 "MIM:614468")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090064 "ORDO:300359")
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090064 "FACU"@en)
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090064 "FCAS3"@en)
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090064 "PLAID"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090064 "PLCG2-associated antibody deficiency and immune dysregulation"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090064 "familial atypical cold urticaria"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090064 "phospholipase C gamma 2-associated antibody deficiency and immune dysregulation"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090064 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0090064 "DOID:0090064")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0090064 doid:DO_rare_slim)
Expand All @@ -67314,6 +67341,7 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090065 "ICD10CM:L50.2")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090065 "MIM:616115")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090065 "ORDO:47045")
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0090065 "FCAS4"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090065 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0090065 "DOID:0090065")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0090065 doid:DO_rare_slim)
Expand Down

0 comments on commit 91b6833

Please sign in to comment.