Edits to proteasome-associated autoinflammatory syndrome 1

src/ontology/doid-edit.owl

@@ -1889,11 +1889,9 @@ Declaration(Class(obo:DOID_0060903))
 Declaration(Class(obo:DOID_0060904))
 Declaration(Class(obo:DOID_0060911))
 Declaration(Class(obo:DOID_0060912))
-Declaration(Class(obo:DOID_0060914))
 Declaration(Class(obo:DOID_0060916))
 Declaration(Class(obo:DOID_0060917))
 Declaration(Class(obo:DOID_0060918))
-Declaration(Class(obo:DOID_0060919))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -21428,19 +21426,27 @@ AnnotationAssertion(rdfs:comment obo:DOID_0050551 "OMIM mapping confirmed by DO.
 AnnotationAssertion(rdfs:label obo:DOID_0050551 "obsolete Verma-Naumoff syndrome")
 AnnotationAssertion(owl:deprecated obo:DOID_0050551 "true"^^xsd:boolean)
 
-# Class: obo:DOID_0050553 (JMP syndrome)
+# Class: obo:DOID_0050553 (proteasome-associated autoinflammatory syndrome 1)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21129723") obo:IAO_0000115 obo:DOID_0050553 "A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21.32.")
+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 "An autosomal recessive disease 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 "OMIM:256040")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "ORDO:324999")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "JMP syndrome"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY"@en)
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "PRAAS1")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "CANDLE")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "NKJO")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "Nakajo-Nishimura syndrome")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050553 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0050553 "DOID:0050553")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050553 doid:DO_rare_slim)
-AnnotationAssertion(rdfs:label obo:DOID_0050553 "JMP syndrome")
+AnnotationAssertion(rdfs:label obo:DOID_0050553 "proteasome-associated autoinflammatory syndrome 1")
 SubClassOf(obo:DOID_0050553 obo:DOID_225)
 SubClassOf(obo:DOID_0050553 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+SubClassOf(obo:DOID_0050553 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930))
 
 # Class: obo:DOID_0050554 (X-linked sideroblastic anemia with ataxia)
 
@@ -40328,18 +40334,6 @@ 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_0060914 (proteasome-associated autoinflammatory syndrome 1)
-
-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_0060914 "An autosomal recessive disease 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:hasDbXref obo:DOID_0060914 "OMIM:256040")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060914 "PRAAS1")
-AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060914 "disease_ontology")
-AnnotationAssertion(oboInOwl:id obo:DOID_0060914 "DOID:0060914")
-AnnotationAssertion(rdfs:label obo:DOID_0060914 "proteasome-associated autoinflammatory syndrome 1"@en)
-SubClassOf(obo:DOID_0060914 obo:DOID_0060919)
-SubClassOf(obo:DOID_0060914 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
-SubClassOf(obo:DOID_0060914 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930))
-
 # Class: obo:DOID_0060916 (proteasome-associated autoinflammatory syndrome 3)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26524591/") obo:IAO_0000115 obo:DOID_0060916 "An autosomal recessive disorder characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21.")
@@ -40348,8 +40342,8 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060916 "PRAAS3")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060916 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0060916 "DOID:0060916")
 AnnotationAssertion(rdfs:label obo:DOID_0060916 "proteasome-associated autoinflammatory syndrome 3"@en)
-SubClassOf(obo:DOID_0060916 obo:DOID_0050737)
-SubClassOf(obo:DOID_0060916 obo:DOID_0060919)
+SubClassOf(obo:DOID_0060916 obo:DOID_225)
+SubClassOf(obo:DOID_0060916 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 SubClassOf(obo:DOID_0060916 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930))
 
 # Class: obo:DOID_0060917 (facioscapulohumeral muscular dystrophy 3)
@@ -40376,13 +40370,6 @@ AnnotationAssertion(rdfs:label obo:DOID_0060918 "facioscapulohumeral muscular dy
 SubClassOf(obo:DOID_0060918 obo:DOID_11727)
 SubClassOf(obo:DOID_0060918 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930))
 
-# Class: obo:DOID_0060919 (autoinflammatory disease)
-
-AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060919 "disease_ontology")
-AnnotationAssertion(oboInOwl:id obo:DOID_0060919 "DOID:0060919")
-AnnotationAssertion(rdfs:label obo:DOID_0060919 "autoinflammatory disease"@en)
-SubClassOf(obo:DOID_0060919 obo:DOID_2914)
-
 # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.")