Add Schinzel Giedion Syndrome

Closes #1275
DiseaseOntology · Dec 7, 2023 · 52c413b · 52c413b
1 parent 66c5afb
commit 52c413b
Showing 1 changed file with 26 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2414,6 +2414,7 @@ Declaration(Class(obo:DOID_0070505))
 Declaration(Class(obo:DOID_0070506))
 Declaration(Class(obo:DOID_0070507))
 Declaration(Class(obo:DOID_0070508))
+Declaration(Class(obo:DOID_0070509))
 Declaration(Class(obo:DOID_0080000))
 Declaration(Class(obo:DOID_0080001))
 Declaration(Class(obo:DOID_0080005))
@@ -47213,6 +47214,31 @@ AnnotationAssertion(rdfs:comment obo:DOID_0070508 "The five cardiometabolic risk
 AnnotationAssertion(rdfs:label obo:DOID_0070508 "metabolic dysfunction and alcohol associated liver disease")
 SubClassOf(obo:DOID_0070508 obo:DOID_9452)
 
+# Class: obo:DOID_0070509 (Schinzel Giedion syndrome)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20436468/") obo:IAO_0000115 obo:DOID_0070509 "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070509 "GARD:117")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070509 "MESH:C536632")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070509 "NCI:C129308")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070509 "OMIM:269150")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070509 "ORDO:798")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070509 "SNOMEDCT_US_2023_03_01:18899000")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070509 "UMLS_CUI:C0265227")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070509 "SGS")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070509 "Schinzel-Giedion midface retraction syndrome")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070509 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070509 "DOID:0070509")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070509 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070509 "Schinzel Giedion syndrome"@en)
+AnnotationAssertion(skos:exactMatch obo:DOID_0070509 "GARD:117")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070509 "MESH:C536632")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070509 "NCI:C129308")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070509 "OMIM:269150")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070509 "ORDO:798")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070509 "SNOMEDCT_US_2023_03_01:18899000")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070509 "UMLS_CUI:C0265227")
+SubClassOf(obo:DOID_0070509 obo:DOID_2121)
+
 # 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.")