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Add transient neonatal diabetes mellitus 1
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src/ontology/doid-edit.owl

Lines changed: 12 additions & 2 deletions
Original file line numberDiff line numberDiff line change
@@ -2204,6 +2204,7 @@ 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_0061173))
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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))
@@ -33754,7 +33755,6 @@ AnnotationAssertion(oboInOwl:created_by obo:DOID_0060334 "emitraka")
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AnnotationAssertion(oboInOwl:creation_date obo:DOID_0060334 "2015-03-12T16:59:58Z")
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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 "ORDO:99886")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060334 "disease_ontology")
@@ -44563,7 +44563,7 @@ SubClassOf(obo:DOID_0061171 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
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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(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15784703/") obo:IAO_0000115 obo:DOID_0061172 "A transient neonatal diabetes mellitus 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")
@@ -44572,6 +44572,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061172 "transient neonatal diabetes mel
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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_0061173 (transient neonatal diabetes mellitus 1)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10895036/") obo:IAO_0000115 obo:DOID_0061173 "A transient neonatal diabetes mellitus that has_material_basis_in overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061173 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061173 "MIM:601410")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061173 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061173 "DOID:0061173")
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AnnotationAssertion(rdfs:label obo:DOID_0061173 "transient neonatal diabetes mellitus 1")
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SubClassOf(obo:DOID_0061173 obo:DOID_0060334)
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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.")

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