diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 61b74b74..13ef9f0b 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -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)) @@ -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) @@ -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")