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lschriml
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added Fontaine Progeroid Syndrome and early-onset obesity, adrenal insufficiency, and red hair
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src/ontology/doid-edit.owl

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@@ -1125,6 +1125,8 @@ Declaration(Class(obo:DOID_0051063))
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Declaration(Class(obo:DOID_0051064))
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Declaration(Class(obo:DOID_0051065))
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Declaration(Class(obo:DOID_0051066))
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Declaration(Class(obo:DOID_0051067))
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Declaration(Class(obo:DOID_0051068))
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Declaration(Class(obo:DOID_0060000))
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Declaration(Class(obo:DOID_0060001))
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Declaration(Class(obo:DOID_0060002))
@@ -28858,6 +28860,35 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0051066 "DOID:0051066")
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AnnotationAssertion(rdfs:label obo:DOID_0051066 "arterionephrosclerosis")
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SubClassOf(obo:DOID_0051066 obo:DOID_784)
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# Class: obo:DOID_0051067 (Fontaine progeroid syndrome)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35679445/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK581082/") obo:IAO_0000115 obo:DOID_0051067 "A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051067 "MIM:612289")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051067 "ORDO:2095")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051067 "ORDO:2963")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051067 "ORDO:697101")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0051067 "Gorlin-Chaudhry-Moss syndrome")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0051067 "Progeroid Syndrome, Congenital, Petty Type")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051067 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051067 "DOID:0051067")
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AnnotationAssertion(rdfs:label obo:DOID_0051067 "Fontaine progeroid syndrome")
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SubClassOf(obo:DOID_0051067 obo:DOID_0081332)
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SubClassOf(obo:DOID_0051067 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0051068 (early-onset obesity, adrenal insufficiency, and red hair)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27468060/") obo:IAO_0000115 obo:DOID_0051068 "A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051068 "GARD:10823")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051068 "MIM:609734")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0051068 "POMC deficiency")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0051068 "pro-opiomelanocortin deficiency")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0051068 "proopiomelanocortin deficiency syndrome")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051068 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051068 "DOID:0051068")
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AnnotationAssertion(rdfs:label obo:DOID_0051068 "early-onset obesity, adrenal insufficiency, and red hair")
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SubClassOf(obo:DOID_0051068 obo:DOID_225)
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SubClassOf(obo:DOID_0051068 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0060000 (infective endocarditis)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis") Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infective_endocarditis") obo:IAO_0000115 obo:DOID_0060000 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.")

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