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lschriml
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fixed synonyms warnings and added neurodevelopmental disorder subtype
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src/ontology/doid-edit.owl

Lines changed: 22 additions & 4 deletions
Original file line numberDiff line numberDiff line change
@@ -1133,6 +1133,8 @@ Declaration(Class(obo:DOID_0051071))
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Declaration(Class(obo:DOID_0051072))
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Declaration(Class(obo:DOID_0051073))
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Declaration(Class(obo:DOID_0051074))
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Declaration(Class(obo:DOID_0051075))
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Declaration(Class(obo:DOID_0051076))
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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))
@@ -28954,6 +28956,25 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0051074 "DOID:0051074")
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AnnotationAssertion(rdfs:label obo:DOID_0051074 "primary autosomal recessive microcephaly 31")
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SubClassOf(obo:DOID_0051074 obo:DOID_0070296)
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# Class: obo:DOID_0051075 (aggressive periodontitis 2)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14673644/") obo:IAO_0000115 obo:DOID_0051075 "An aggressive periodontitis that has_material_basis_in a locus is situated between D1S196 and D1S533 on chromosome 1q25.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051075 "MIM:608526")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051075 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051075 "DOID:0051075")
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AnnotationAssertion(rdfs:label obo:DOID_0051075 "aggressive periodontitis 2")
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SubClassOf(obo:DOID_0051075 obo:DOID_1474)
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# Class: obo:DOID_0051076 (neurodevelopmental disorder with parkinsonism or other movement abnormalities)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/41053928/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK584989/") obo:IAO_0000115 obo:DOID_0051076 "An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051076 "MIM:621506")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0051076 "NEDPAM")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051076 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051076 "DOID:0051076")
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AnnotationAssertion(rdfs:label obo:DOID_0051076 "neurodevelopmental disorder with parkinsonism or other movement abnormalities")
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SubClassOf(obo:DOID_0051076 obo:DOID_0060308)
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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.")
@@ -44843,7 +44864,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061225 "ORDO:210115")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061225 "Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061225 "Sterile multifocal osteomyelitis with periostitis and pustulosis")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061225 "chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061225 "immunoglobulin heavy chain deletion")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061225 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061225 "DOID:0061225")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0061225 doid:DO_rare_slim)
@@ -140567,11 +140587,9 @@ AnnotationAssertion(owl:deprecated obo:DOID_14739 "true"^^xsd:boolean)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Aggressive_periodontitis") obo:IAO_0000115 obo:DOID_1474 "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1474 "ICD10CM:K05.2")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1474 "MESH:D010520")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1474 "MIM:170650")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1474 "MIM:608526")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1474 "SNOMEDCT_US_2023_03_01:449908004")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1474 "UMLS_CUI:C0031106")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_1474 "juvenile periodontitis")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1474 "MIM:PS170650")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_1474 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_1474 "DOID:1474")
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AnnotationAssertion(rdfs:comment obo:DOID_1474 "OMIM mapping confirmed by DO. [SN].")

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