Adjustments of digenic disease definitions

src/ontology/doid-edit.owl

@@ -40319,7 +40319,7 @@ SubClassOf(obo:DOID_0060911 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 # Class: obo:DOID_0060912 (craniosynostosis 7)
 
-AnnotationAssertion(obo:IAO_0000115 obo:DOID_0060912 "A craniosynostosis condition characterized by the premature fusion of cranial sutures leading to potential intracranial pressure elevation, skull deformity and  inability of the skull's growth to keep up with the developing brain, potentially causing neurodevelopmental issues. The susceptibility has_material_basis_in a heterozygous mutation in the SMAD6 gene on chromosome 15q22. This genetic variation is typically weakly penetrant, unless a modifier is present – the risk allele of a common variant near the BMP2 gene on chromosome 20p12.")
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/23438589/") obo:IAO_0000115 obo:DOID_0060912 "A craniosynostosis characterized by the premature fusion of cranial sutures leading to potential intracranial pressure elevation, skull deformity and  inability of the skull's growth to keep up with the developing brain, potentially causing neurodevelopmental issues. The susceptibility has_material_basis_in a heterozygous mutation in the SMAD6 gene on chromosome 15q22. This genetic variation is typically weakly penetrant, unless a modifier is present – the risk allele of a common variant near the BMP2 gene on chromosome 20p12.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060912 "OMIM:617439")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060912 "CRS7")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060912 "disease_ontology")
@@ -40330,7 +40330,7 @@ SubClassOf(obo:DOID_0060912 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000093
 
 # Class: obo:DOID_0060914 (proteasome-associated autoinflammatory syndrome 1)
 
-AnnotationAssertion(obo:IAO_0000115 obo:DOID_0060914 "An autosomal recessive disease characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation that has_material_basis_in digenic inheritance")
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/21129723/") Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/21852578/") Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/21881205/") obo:IAO_0000115 obo:DOID_0060914 "An autosomal recessive disease characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or has_material_basis_in a heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 (176843) gene on chromosome 14q23 or in the PSMB4 (602177) on chromosome 1q21.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060914 "OMIM:256040")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060914 "PRAAS1")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060914 "disease_ontology")
@@ -74809,8 +74809,8 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110839 "ICD10CM:H35.5")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110839 "OMIM:605472")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110839 "USH2C"@en)
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110839 "Usher syndrome type IIC"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110839 "Usher syndrome IIC")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110839 "Usher syndrome type IIC"@en)
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110839 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0110839 "DOID:0110839")
 AnnotationAssertion(rdfs:label obo:DOID_0110839 "Usher syndrome type 2C")