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Proteasome-associated autoinflammatory syndrome PS
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csbjohnson committed Oct 23, 2023
1 parent ae13b69 commit b06ef33
Showing 1 changed file with 14 additions and 6 deletions.
20 changes: 14 additions & 6 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -1889,6 +1889,7 @@ Declaration(Class(obo:DOID_0060903))
Declaration(Class(obo:DOID_0060904))
Declaration(Class(obo:DOID_0060911))
Declaration(Class(obo:DOID_0060912))
Declaration(Class(obo:DOID_0060913))
Declaration(Class(obo:DOID_0060916))
Declaration(Class(obo:DOID_0060917))
Declaration(Class(obo:DOID_0060918))
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# Class: obo:DOID_0050553 (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_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(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 "OMIM:256040")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "ORDO:324999")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "CANDLE")
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 "PRAAS1")
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 "proteasome-associated autoinflammatory syndrome 1")
SubClassOf(obo:DOID_0050553 obo:DOID_225)
SubClassOf(obo:DOID_0050553 obo:DOID_0060913)
SubClassOf(obo:DOID_0050553 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
SubClassOf(obo:DOID_0050553 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930))

Expand Down Expand Up @@ -40334,15 +40335,22 @@ 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)

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(oboInOwl:hasDbXref obo:DOID_0060913 "OMIM:PS256040")
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)

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.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26524591/") obo:IAO_0000115 obo:DOID_0060916 "A proteasome-associated autoinflammatory syndrome 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.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060916 "OMIM:617591")
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_225)
SubClassOf(obo:DOID_0060916 obo:DOID_0060913)
SubClassOf(obo:DOID_0060916 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
SubClassOf(obo:DOID_0060916 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930))

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