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Add ring chromosome syndrome and 2 children
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@allenbaron
allenbaron committed Nov 19, 2024
1 parent 559de44 commit 2aa7f17
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70 changes: 70 additions & 0 deletions src/ontology/doid-edit.owl
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Expand Up @@ -2611,6 +2611,9 @@ Declaration(Class(obo:DOID_0070616))
Declaration(Class(obo:DOID_0070617))
Declaration(Class(obo:DOID_0070618))
Declaration(Class(obo:DOID_0070619))
Declaration(Class(obo:DOID_0070620))
Declaration(Class(obo:DOID_0070621))
Declaration(Class(obo:DOID_0070622))
Declaration(Class(obo:DOID_0080000))
Declaration(Class(obo:DOID_0080001))
Declaration(Class(obo:DOID_0080005))
Expand Down Expand Up @@ -50330,6 +50333,73 @@ AnnotationAssertion(rdfs:label obo:DOID_0070619 "mitochondrial trifunctional pro
AnnotationAssertion(skos:exactMatch obo:DOID_0070619 "MIM:609015")
SubClassOf(obo:DOID_0070619 obo:DOID_0111277)

# Class: obo:DOID_0070620 (ring chromosome syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007641) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ring_chromosome") Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9519620/") Annotation(oboInOwl:hasDbXref "url:https://rarechromo.org/glossary/") obo:IAO_0000115 obo:DOID_0070620 "A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070620 "ICD10CM:Q93.2")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070620 "MESH:D012303")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070620 "ORDO:363203")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070620 "UMLS_CUI:C0035639")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070620 "ring syndrome"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070620 "disease_ontology")
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasRelatedSynonym obo:DOID_0070620 "RC"@en)
AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:DOID_0070620 "ring chromosome"@en)
AnnotationAssertion(oboInOwl:id obo:DOID_0070620 "DOID:0070620")
AnnotationAssertion(rdfs:label obo:DOID_0070620 "ring chromosome syndrome"@en)
AnnotationAssertion(skos:broadMatch obo:DOID_0070620 "MESH:D012303")
AnnotationAssertion(skos:broadMatch obo:DOID_0070620 "UMLS_CUI:C0035639")
AnnotationAssertion(skos:exactMatch obo:DOID_0070620 "ICD10CM:Q93.2")
AnnotationAssertion(skos:exactMatch obo:DOID_0070620 "ORDO:363203")
EquivalentClasses(obo:DOID_0070620 ObjectIntersectionOf(obo:DOID_4 ObjectSomeValuesFrom(obo:IDO_0000664 obo:SO_1000045)))
SubClassOf(obo:DOID_0070620 obo:DOID_0080014)

# Class: obo:DOID_0070621 (ring chromosome 14 syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007640) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome/") Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5387247/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23610869/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24116895/") obo:IAO_0000115 obo:DOID_0070621 "A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070621 "GARD:6072")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070621 "MESH:C535487")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070621 "MIM:616606")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070621 "ORDO:1440")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070621 "UMLS_CUI:C2930916")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070621 "r(14) syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070621 "r14 syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070621 "ring 14 syndrome"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070621 "disease_ontology")
AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:DOID_0070621 "ring 14"@en)
AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:DOID_0070621 "ring chromosome 14"@en)
AnnotationAssertion(oboInOwl:id obo:DOID_0070621 "DOID:0070621")
AnnotationAssertion(rdfs:label obo:DOID_0070621 "ring chromosome 14 syndrome"@en)
AnnotationAssertion(skos:exactMatch obo:DOID_0070621 "GARD:6072")
AnnotationAssertion(skos:exactMatch obo:DOID_0070621 "MESH:C535487")
AnnotationAssertion(skos:exactMatch obo:DOID_0070621 "MIM:616606")
AnnotationAssertion(skos:exactMatch obo:DOID_0070621 "ORDO:1440")
AnnotationAssertion(skos:exactMatch obo:DOID_0070621 "UMLS_CUI:C2930916")
SubClassOf(obo:DOID_0070621 obo:DOID_0070620)

# Class: obo:DOID_0070622 (ring chromosome 20 syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007640) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/ring-chromosome-20-syndrome/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33363513/") obo:IAO_0000115 obo:DOID_0070622 "A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070622 "GARD:1334")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070622 "MESH:C580424")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070622 "NCI:C169001")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070622 "ORDO:1444")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070622 "UMLS_CUI:C0265482")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070622 "r(20) syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070622 "r20 syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070622 "ring 20 syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070622 "ring chromosome 20 epilepsy syndrome"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070622 "disease_ontology")
AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:DOID_0070622 "ring 20"@en)
AnnotationAssertion(oboInOwl:hasRelatedSynonym obo:DOID_0070622 "ring chromosome 20"@en)
AnnotationAssertion(oboInOwl:id obo:DOID_0070622 "DOID:0070622")
AnnotationAssertion(rdfs:label obo:DOID_0070622 "ring chromosome 20 syndrome"@en)
AnnotationAssertion(skos:exactMatch obo:DOID_0070622 "GARD:1334")
AnnotationAssertion(skos:exactMatch obo:DOID_0070622 "MESH:C580424")
AnnotationAssertion(skos:exactMatch obo:DOID_0070622 "NCI:C169001")
AnnotationAssertion(skos:exactMatch obo:DOID_0070622 "ORDO:1444")
AnnotationAssertion(skos:exactMatch obo:DOID_0070622 "UMLS_CUI:C0265482")
SubClassOf(obo:DOID_0070622 obo:DOID_0070620)

# Class: obo:DOID_0080000 (muscular disease)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles."@en)
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