Add Legius and Watson syndromes

Issue #703
DiseaseOntology · Oct 18, 2023 · 4365b7e · 4365b7e
1 parent cc28272
commit 4365b7e
Showing 1 changed file with 39 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2368,6 +2368,8 @@ Declaration(Class(obo:DOID_0070479))
 Declaration(Class(obo:DOID_0070480))
 Declaration(Class(obo:DOID_0070481))
 Declaration(Class(obo:DOID_0070482))
+Declaration(Class(obo:DOID_0070483))
+Declaration(Class(obo:DOID_0070484))
 Declaration(Class(obo:DOID_0080000))
 Declaration(Class(obo:DOID_0080001))
 Declaration(Class(obo:DOID_0080005))
@@ -46475,6 +46477,43 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070482 "OMIM:162210")
 SubClassOf(obo:DOID_0070482 obo:DOID_0111253)
 SubClassOf(obo:DOID_0070482 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0009623))
 
+# Class: obo:DOID_0070483 (Watson syndrome)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1770531/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/6025371/") obo:IAO_0000115 obo:DOID_0070483 "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070483 "OMIM:193520")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070483 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070483 "DOID:0070483")
+AnnotationAssertion(rdfs:label obo:DOID_0070483 "Watson syndrome")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070483 "OMIM:193520")
+SubClassOf(obo:DOID_0070483 obo:DOID_0080690)
+SubClassOf(obo:DOID_0070483 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0070484 (Legius syndrome)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34012067/") obo:IAO_0000115 obo:DOID_0070484 "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "GARD:10714")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "MESH:C548032")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "NCI:C176941")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "OMIM:611431")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "ORDO:137605")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "SNOMEDCT_US_2023_03_01:703541007")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "UMLS_CUI:C1969623")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070484 "LGSS")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070484 "NF1-like syndrome")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070484 "neurofibromatosis type 1-like syndrome")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070484 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070484 "DOID:0070484")
+AnnotationAssertion(rdfs:label obo:DOID_0070484 "Legius syndrome")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "GARD:10714")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "MESH:C548032")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "NCI:C176941")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "OMIM:611431")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "ORDO:137605")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "SNOMEDCT_US_2023_03_01:703541007")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "UMLS_CUI:C1969623")
+SubClassOf(obo:DOID_0070484 obo:DOID_0080690)
+SubClassOf(obo:DOID_0070484 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # 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.")