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Add otulipenia subtypes
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src/ontology/doid-edit.owl

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@@ -2200,6 +2200,8 @@ Declaration(Class(obo:DOID_0061165))
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Declaration(Class(obo:DOID_0061166))
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Declaration(Class(obo:DOID_0061167))
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Declaration(Class(obo:DOID_0061168))
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Declaration(Class(obo:DOID_0061169))
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Declaration(Class(obo:DOID_0061170))
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Declaration(Class(obo:DOID_0070000))
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Declaration(Class(obo:DOID_0070001))
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Declaration(Class(obo:DOID_0070002))
@@ -44527,6 +44529,26 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061168 "DOID:0061168")
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AnnotationAssertion(rdfs:label obo:DOID_0061168 "mitochondrial axonal Charcot-Marie-Tooth disease")
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SubClassOf(obo:DOID_0061168 obo:DOID_10595)
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# Class: obo:DOID_0061169 (autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/38652464/") obo:IAO_0000115 obo:DOID_0061169 "An immune system disease that is characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing and has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061169 "MIM:621030")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061169 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061169 "DOID:0061169")
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AnnotationAssertion(rdfs:label obo:DOID_0061169 "autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome")
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SubClassOf(obo:DOID_0061169 obo:DOID_0080163)
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SubClassOf(obo:DOID_0061169 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0061170 (autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27523608/") obo:IAO_0000115 obo:DOID_0061170 "An immune system disease that is haracterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection and has_material_basis_in homozygous or compound heterozygous mutation in the OTULIN gene on chromosome 5p15.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061170 "MIM:617099"^^xsd:decimal)
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061170 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061170 "DOID:0061170")
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AnnotationAssertion(rdfs:label obo:DOID_0061170 "autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome")
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SubClassOf(obo:DOID_0061170 obo:DOID_0080163)
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SubClassOf(obo:DOID_0061170 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
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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.")
@@ -55438,7 +55460,6 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0080163 "DOID:0080163")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080163 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0080163 "otulipenia")
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SubClassOf(obo:DOID_0080163 obo:DOID_2914)
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SubClassOf(obo:DOID_0080163 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0080164 (myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1)
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