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Add transient neonatal diabetes mellitus 3
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src/ontology/doid-edit.owl

Lines changed: 14 additions & 3 deletions
Original file line numberDiff line numberDiff line change
@@ -2203,6 +2203,7 @@ 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_0061171))
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Declaration(Class(obo:DOID_0061172))
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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))
@@ -33755,7 +33756,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060334 "GARD:1839")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060334 "ICD10CM:P70.2")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060334 "MIM:601410")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060334 "MIM:610374")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060334 "MIM:610582")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060334 "ORDO:99886")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060334 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0060334 "DOID:0060334")
@@ -44561,6 +44561,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061171 "immunodeficiency 130 with HPV-r
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SubClassOf(obo:DOID_0061171 obo:DOID_612)
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SubClassOf(obo:DOID_0061171 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061172 (transient neonatal diabetes mellitus 3)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15784703/") obo:IAO_0000115 obo:DOID_0061172 "A neonatal diabetes that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061172 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061172 "MIM:610582")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061172 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061172 "DOID:0061172")
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AnnotationAssertion(rdfs:label obo:DOID_0061172 "transient neonatal diabetes mellitus 3")
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SubClassOf(obo:DOID_0061172 obo:DOID_0060334)
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SubClassOf(obo:DOID_0061172 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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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.")
@@ -177592,10 +177603,10 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "GARD:7157")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "ICDO:8852/3")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "MESH:D018208")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "MIM:613488")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "NCI:C27781")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "ORDO:99967")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "SNOMEDCT_US_2023_03_01:404069006")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "UMLS_CUI:C0206634")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5363 "NCI:C27781")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_5363 "Myxoid/round cell liposarcoma")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_5363 "disease_ontology")
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AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:DOID_5363 "mixed-type liposarcoma")
@@ -181122,10 +181133,10 @@ SubClassOf(obo:DOID_5691 obo:DOID_1393)
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# Class: obo:DOID_5692 (cellular myxoid liposarcoma)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4252") obo:IAO_0000115 obo:DOID_5692 "A liposarcoma characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5692 "ICDO:8853/3")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5692 "NCI:C4252")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5692 "SNOMEDCT_US_2023_03_01:404070007")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5692 "UMLS_CUI:C0334471")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5692 "ICDO:8853/3")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_5692 "round cell liposarcoma")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_5692 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_5692 "DOID:5692")

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