diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 8ccf1e74..b7516004 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -1987,6 +1987,7 @@ Declaration(Class(obo:DOID_0061007)) Declaration(Class(obo:DOID_0061008)) Declaration(Class(obo:DOID_0061009)) Declaration(Class(obo:DOID_0061010)) +Declaration(Class(obo:DOID_0061011)) Declaration(Class(obo:DOID_0070000)) Declaration(Class(obo:DOID_0070001)) Declaration(Class(obo:DOID_0070002)) @@ -41927,6 +41928,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061010 "craniosynostosis 1"@en) SubClassOf(obo:DOID_0061010 obo:DOID_2340) SubClassOf(obo:DOID_0061010 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147)) +# Class: obo:DOID_0061011 (craniosynostosis 3) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23438589/") obo:IAO_0000115 obo:DOID_0061011 "A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21."@en) +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061011 "MIM:615314") +AnnotationAssertion(Annotation(rdfs:comment obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061011 "CRS3"@en) +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061011 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0061011 "DOID:0061011") +AnnotationAssertion(rdfs:label obo:DOID_0061011 "craniosynostosis 3"@en) +SubClassOf(obo:DOID_0061011 obo:DOID_2340) +SubClassOf(obo:DOID_0061011 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) @@ -144332,7 +144344,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "MESH:D003398") 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:615314") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "NCI:C84655") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "ORDO:1531") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "SNOMEDCT_US_2023_03_01:205414007")