Add 'congenital variant of Rett syndrome' (DOID:0070657)

Closes #1522

Author: allenbaron

src/ontology/doid-edit.owl

@@ -2886,6 +2886,7 @@ Declaration(Class(obo:DOID_0070653))
 Declaration(Class(obo:DOID_0070654))
 Declaration(Class(obo:DOID_0070655))
 Declaration(Class(obo:DOID_0070656))
+Declaration(Class(obo:DOID_0070657))
 Declaration(Class(obo:DOID_0080000))
 Declaration(Class(obo:DOID_0080001))
 Declaration(Class(obo:DOID_0080005))
@@ -53864,6 +53865,34 @@ AnnotationAssertion(rdfs:label obo:DOID_0070656 "hamartoma syndrome")
 EquivalentClasses(obo:DOID_0070656 ObjectIntersectionOf(obo:DOID_225 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_3462)))
 SubClassOf(obo:DOID_0070656 obo:DOID_225)
 
+# Class: obo:DOID_0070657 (congenital variant of Rett syndrome)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(dc:type obo:ECO_0007646) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5522617/") Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC6747066/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28661489/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK604176/") obo:IAO_0000115 obo:DOID_0070657 "A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1.")
+AnnotationAssertion(oboInOwl:hasBroadSynonym obo:DOID_0070657 "FOXG1-related encephalopathy")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070657 "GARD:12825")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070657 "ICD10CM:Q04.8")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070657 "MIM:613454")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070657 "NCI:C176903")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070657 "ORDO:561854")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070657 "SNOMEDCT_US_2025_05_01:702450004")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070657 "UMLS_CUI:C3150705")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070657 "FOXG1 syndrome")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070657 "Rett syndrome, congenital variant")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070657 "disease_ontology")
+AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:DOID_0070657 "atypical Rett syndrome")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070657 "DOID:0070657")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070657 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070657 "congenital variant of Rett syndrome")
+AnnotationAssertion(skos:broadMatch obo:DOID_0070657 "ICD10CM:Q04.8")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070657 "GARD:12825")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070657 "MIM:613454")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070657 "NCI:C176903")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070657 "ORDO:561854")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070657 "UMLS_CUI:C3150705")
+SubClassOf(obo:DOID_0070657 obo:DOID_0060040)
+SubClassOf(obo:DOID_0070657 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+SubClassOf(obo:DOID_0070657 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0000955))
+
 # 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.")