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Add nomenclature synonym to congenital myopathy 13
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src/ontology/doid-edit.owl

Lines changed: 4 additions & 2 deletions
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@@ -34027,7 +34027,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060345 doid:NCIthesaurus)
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AnnotationAssertion(rdfs:label obo:DOID_0060345 "bacillary angiomatosis")
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SubClassOf(obo:DOID_0060345 obo:DOID_11102)
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# Class: obo:DOID_0060346 (Native American myopathy)
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# Class: obo:DOID_0060346 (congenital myopathy 13)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18553514") obo:IAO_0000115 obo:DOID_0060346 "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0060346 "emitraka")
@@ -34040,10 +34040,12 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060346 "SNOMEDCT_US_2023_03_01:
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060346 "UMLS_CUI:C1850625")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "Bailey-Bloch congenital myopathy")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "congenital myopathy 13")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "Native American myopathy")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "STAC3 disorder")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060346 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0060346 "DOID:0060346")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060346 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0060346 "Native American myopathy")
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AnnotationAssertion(rdfs:label obo:DOID_0060346 "congenital myopathy 13")
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SubClassOf(obo:DOID_0060346 obo:DOID_0081337)
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SubClassOf(obo:DOID_0060346 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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SubClassOf(obo:DOID_0060346 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000094))

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