From 91b6833304c94c8c0244e330a2d0ccbb838b5a18 Mon Sep 17 00:00:00 2001 From: "J. Allen Baron" Date: Wed, 30 Oct 2024 13:29:45 -0400 Subject: [PATCH] Add APLAID (DOID:0070615) & FACS synonyms Closes #1387 --- src/ontology/doid-edit.owl | 28 ++++++++++++++++++++++++++++ 1 file changed, 28 insertions(+) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 218cc6ec..0e39c06b 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -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)) @@ -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) @@ -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) @@ -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") @@ -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) @@ -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)