Annotations proteosome-associated autoinflammatory syndrome

DiseaseOntology · Oct 27, 2023 · 6d7aead · 6d7aead
1 parent b6e25f2
commit 6d7aead
Showing 1 changed file with 6 additions and 3 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -21432,6 +21432,8 @@ AnnotationAssertion(owl:deprecated obo:DOID_0050551 "true"^^xsd:boolean)
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21129723/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21852578/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21881205/") obo:IAO_0000115 obo:DOID_0050553 "A proteasome-associated autoinflammatory syndrome characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21.")
 AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0050553 "DOID:0060914")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "GARD:10988")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "GARD:3916")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "GARD:3917")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "OMIM:256040")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "ORDO:324999")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "CANDLE")
@@ -40335,13 +40337,14 @@ AnnotationAssertion(rdfs:label obo:DOID_0060912 "craniosynostosis 7"@en)
 SubClassOf(obo:DOID_0060912 obo:DOID_2340)
 SubClassOf(obo:DOID_0060912 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930))
 
-# Class: obo:DOID_0060913 (Proteosome-associated autoinflammatory syndrome)
+# Class: obo:DOID_0060913 (proteosome-associated autoinflammatory syndrome)
 
-AnnotationAssertion(obo:IAO_0000115 obo:DOID_0060913 "A syndrome that is characterized by early onset, dermatitis, lipodystrophy, dysregulation of the immune response, recurrent fever, joint contractures, hepatosplenomegaly, anemia and calcifications.")
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25521013/") obo:IAO_0000115 obo:DOID_0060913 "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060913 "OMIM:PS256040")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060913 "ORDO:324977")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060913 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0060913 "DOID:0060913")
-AnnotationAssertion(rdfs:label obo:DOID_0060913 "Proteosome-associated autoinflammatory syndrome"@en)
+AnnotationAssertion(rdfs:label obo:DOID_0060913 "proteosome-associated autoinflammatory syndrome"@en)
 SubClassOf(obo:DOID_0060913 obo:DOID_225)
 
 # Class: obo:DOID_0060916 (proteasome-associated autoinflammatory syndrome 3)