Nomenclature review of spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -96668,8 +96668,8 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111691 "MIM:615400")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0111691 "FAME5")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0111691 "FCMTE5")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111691 "familial cortical myoclonic tremor and epilepsy 5")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111691 "early-onset epilepsy 5 with or without developmental delay")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111691 "familial cortical myoclonic tremor and epilepsy 5")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111691 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0111691 "DOID:0111691")
 AnnotationAssertion(rdfs:label obo:DOID_0111691 "familial adult myoclonic epilepsy 5")
@@ -104936,15 +104936,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0112293 "autosomal recessive spondyloepi
 SubClassOf(obo:DOID_0112293 obo:DOID_0112284)
 SubClassOf(obo:DOID_0112293 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
-# Class: obo:DOID_0112294 (spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability)
+# Class: obo:DOID_0112294 (spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9557884/") obo:IAO_0000115 obo:DOID_0112294 "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0112294 "MIM:602611")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0112294 "ORDO:163649")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0112294 "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0112294 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0112294 "DOID:0112294")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0112294 doid:DO_rare_slim)
-AnnotationAssertion(rdfs:label obo:DOID_0112294 "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability")
+AnnotationAssertion(rdfs:label obo:DOID_0112294 "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development")
 SubClassOf(obo:DOID_0112294 obo:DOID_225)
 
 # Class: obo:DOID_0112295 (spondylometaphyseal dysplasia)