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Add craniosynostosis 2
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Issue #1408
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csbjohnson committed Nov 12, 2024
1 parent 80e9b49 commit 6fd9528
Showing 1 changed file with 17 additions and 1 deletion.
18 changes: 17 additions & 1 deletion src/ontology/doid-edit.owl
Original file line number Diff line number Diff line change
Expand Up @@ -1985,6 +1985,7 @@ Declaration(Class(obo:DOID_0061005))
Declaration(Class(obo:DOID_0061006))
Declaration(Class(obo:DOID_0061007))
Declaration(Class(obo:DOID_0061008))
Declaration(Class(obo:DOID_0061009))
Declaration(Class(obo:DOID_0070000))
Declaration(Class(obo:DOID_0070001))
Declaration(Class(obo:DOID_0070002))
Expand Down Expand Up @@ -41898,6 +41899,22 @@ AnnotationAssertion(rdfs:label obo:DOID_0061008 "craniosynostosis 6"@en)
SubClassOf(obo:DOID_0061008 obo:DOID_2340)
SubClassOf(obo:DOID_0061008 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0061009 (craniosynostosis 2)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23438589/") obo:IAO_0000115 obo:DOID_0061009 "A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061009 "GARD:5538")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061009 "MIM:604757")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061009 "ORDO:1541")
AnnotationAssertion(Annotation(rdfs:comment obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061009 "CRS2"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061009 "Craniosynostosis Boston type"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061009 "Craniosynostosis Warman type"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061009 "Warman-Mulliken-Hayward syndrome"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061009 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0061009 "DOID:0061009")
AnnotationAssertion(rdfs:label obo:DOID_0061009 "craniosynostosis 2"@en)
SubClassOf(obo:DOID_0061009 obo:DOID_2340)
SubClassOf(obo:DOID_0061009 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)

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."@en)
Expand Down Expand Up @@ -144304,7 +144321,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:123100")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:182212")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:600593")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:600775")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:604757")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MIM:615314")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "NCI:C84655")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "ORDO:1531")
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