Add ragopathy

Issue #1468

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -2170,6 +2170,7 @@ Declaration(Class(obo:DOID_0061136))
 Declaration(Class(obo:DOID_0061137))
 Declaration(Class(obo:DOID_0061138))
 Declaration(Class(obo:DOID_0061139))
+Declaration(Class(obo:DOID_0061140))
 Declaration(Class(obo:DOID_0061141))
 Declaration(Class(obo:DOID_0061142))
 Declaration(Class(obo:DOID_0061143))
@@ -44145,6 +44146,14 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061139 "DOID:0061139")
 AnnotationAssertion(rdfs:label obo:DOID_0061139 "coronary atherosclerosis")
 SubClassOf(obo:DOID_0061139 obo:DOID_1936)
 
+# Class: obo:DOID_0061140 (ragopathy)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.nature.com/articles/s41467-024-50034-4") obo:IAO_0000115 obo:DOID_0061140 "A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061140 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061140 "DOID:0061140")
+AnnotationAssertion(rdfs:label obo:DOID_0061140 "ragopathy")
+SubClassOf(obo:DOID_0061140 obo:DOID_225)
+
 # Class: obo:DOID_0061141 (complex cortical dysplasia with other brain malformations 12)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36283405/") obo:IAO_0000115 obo:DOID_0061141 "A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.")
@@ -96137,8 +96146,8 @@ SubClassOf(obo:DOID_0111742 obo:DOID_1441)
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29474920") obo:IAO_0000115 obo:DOID_0111743 "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111743 "MIM:620719")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111743 "ORDO:589515")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111743 "PUM1-associated developmental disability-ataxia-seizure syndrome")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0111743 "SCA47")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111743 "PUM1-associated developmental disability-ataxia-seizure syndrome")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111743 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0111743 "DOID:0111743")
 AnnotationAssertion(rdfs:label obo:DOID_0111743 "cerebellar ataxia type 47")