diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index b7516004..984cf40c 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -1988,6 +1988,7 @@ Declaration(Class(obo:DOID_0061008)) Declaration(Class(obo:DOID_0061009)) Declaration(Class(obo:DOID_0061010)) Declaration(Class(obo:DOID_0061011)) +Declaration(Class(obo:DOID_0061012)) Declaration(Class(obo:DOID_0070000)) Declaration(Class(obo:DOID_0070001)) Declaration(Class(obo:DOID_0070002)) @@ -41939,6 +41940,18 @@ 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_0061012 (craniosynostosis 4) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23438589/") obo:IAO_0000115 obo:DOID_0061012 "A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13."@en) +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061012 "MIM:600775") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061012 "ORDO:647681") +AnnotationAssertion(Annotation(rdfs:comment obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061012 "CRS4"@en) +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061012 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0061012 "DOID:0061012") +AnnotationAssertion(rdfs:label obo:DOID_0061012 "craniosynostosis 4"@en) +SubClassOf(obo:DOID_0061012 obo:DOID_2340) +SubClassOf(obo:DOID_0061012 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) @@ -144343,7 +144356,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "ICD10CM:Q75.0") 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 "NCI:C84655") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "ORDO:1531") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2340 "SNOMEDCT_US_2023_03_01:205414007")