TANGO2-related metabolic encephalopathy and arrythmias

DiseaseOntology · Nov 8, 2023 · 611d9e1 · 611d9e1
1 parent a8d48c4
commit 611d9e1
Showing 1 changed file with 16 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -3717,6 +3717,7 @@ Declaration(Class(obo:DOID_0081382))
 Declaration(Class(obo:DOID_0081383))
 Declaration(Class(obo:DOID_0081384))
 Declaration(Class(obo:DOID_0081385))
+Declaration(Class(obo:DOID_0081386))
 Declaration(Class(obo:DOID_0090001))
 Declaration(Class(obo:DOID_0090002))
 Declaration(Class(obo:DOID_0090003))
@@ -61769,6 +61770,20 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0081385 "DOID:0081385")
 AnnotationAssertion(rdfs:label obo:DOID_0081385 "ataxia-telangiectasia-like disorder-2"@en)
 SubClassOf(obo:DOID_0081385 obo:DOID_0050950)
 
+# Class: obo:DOID_0081386 (TANGO2-related metabolic encephalopathy and arrythmias)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26805782/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK476443/") obo:IAO_0000115 obo:DOID_0081386 "A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081386 "GARD:13423")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081386 "OMIM:616878")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081386 "ORDO:480864")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081386 "TANGO2 deficiency")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081386 "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081386 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081386 "DOID:0081386")
+AnnotationAssertion(rdfs:label obo:DOID_0081386 "TANGO2-related metabolic encephalopathy and arrythmias"@en)
+SubClassOf(obo:DOID_0081386 obo:DOID_225)
+SubClassOf(obo:DOID_0081386 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # Class: obo:DOID_0090001 (Fraser syndrome)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12766769") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16894541") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22510445") obo:IAO_0000115 obo:DOID_0090001 "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.")
@@ -79811,6 +79826,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111180 "French Canadian t
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111180 "French Canadian type cytochrome c oxidase deficiency"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111180 "Saguenay Lac saint Jean type COX deficiency"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111180 "Saguenay Lac saint Jean type Leigh syndrome"@en)
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111180 "mitochondrial complex IV deficiency nuclear type 5")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111180 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0111180 "DOID:0111180")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0111180 doid:DO_rare_slim)