Add schwannomotosis 1 & 2

Closes #1218
DiseaseOntology · Oct 12, 2023 · 3202053 · 3202053
1 parent 215a720
commit 3202053
Showing 1 changed file with 35 additions and 1 deletion.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2365,6 +2365,8 @@ Declaration(Class(obo:DOID_0070476))
 Declaration(Class(obo:DOID_0070477))
 Declaration(Class(obo:DOID_0070478))
 Declaration(Class(obo:DOID_0070479))
+Declaration(Class(obo:DOID_0070480))
+Declaration(Class(obo:DOID_0070481))
 Declaration(Class(obo:DOID_0080000))
 Declaration(Class(obo:DOID_0080001))
 Declaration(Class(obo:DOID_0080005))
@@ -13945,7 +13947,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.or
 AnnotationAssertion(rdfs:isDefinedBy obo:IAO_0000119 obo:iao.owl)
 AnnotationAssertion(rdfs:label obo:IAO_0000119 "definition source")
 
-# Annotation Property: obo:IAO_0000700 (has_ontology_root_term)
+# Annotation Property: obo:IAO_0000700 (has ontology root term)
 
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/IAO_0000700") obo:IAO_0000115 obo:IAO_0000700 "Has ontology root term.")
 AnnotationAssertion(rdfs:label obo:IAO_0000700 "has_ontology_root_term")
@@ -46419,6 +46421,38 @@ SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0002355))
 SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0011968))
 SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0031936))
 
+# Class: obo:DOID_0070480 (schwannomatosis 1)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19582488/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35674741/") obo:IAO_0000115 obo:DOID_0070480 "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070480 "NCI:C186703")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070480 "OMIM:162091")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070480 "UMLS_CUI:C5670707")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070480 "SMARCB1-related schwannomatosis")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070480 "SWN1")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070480 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070480 "DOID:0070480")
+AnnotationAssertion(rdfs:label obo:DOID_0070480 "schwannomatosis 1")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070480 "NCI:C186703")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070480 "OMIM:162091")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070480 "UMLS_CUI:C5670707")
+SubClassOf(obo:DOID_0070480 obo:DOID_3204)
+
+# Class: obo:DOID_0070481 (schwannomatosis 2)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24362817/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35674741/") obo:IAO_0000115 obo:DOID_0070481 "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070481 "NCI:C186704")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070481 "OMIM:615670")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070481 "UMLS_CUI:C5670708")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070481 "LZTR1-related schwannomatosis")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070481 "SWN2")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070481 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070481 "DOID:0070481")
+AnnotationAssertion(rdfs:label obo:DOID_0070481 "schwannomatosis 2")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070481 "NCI:C186704")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070481 "OMIM:615670")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070481 "UMLS_CUI:C5670708")
+SubClassOf(obo:DOID_0070481 obo:DOID_3204)
+
 # 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.")