fixed immunodeficinece 113 and 133

Author: lschriml

src/ontology/doid-edit.owl

@@ -1114,6 +1114,7 @@ Declaration(Class(obo:DOID_0051052))
 Declaration(Class(obo:DOID_0051053))
 Declaration(Class(obo:DOID_0051054))
 Declaration(Class(obo:DOID_0051055))
+Declaration(Class(obo:DOID_0051056))
 Declaration(Class(obo:DOID_0060000))
 Declaration(Class(obo:DOID_0060001))
 Declaration(Class(obo:DOID_0060002))
@@ -28871,6 +28872,17 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0051055 "DOID:0051055")
 AnnotationAssertion(rdfs:label obo:DOID_0051055 "46,XY gonadal dysgenesis with minifascicular neuropathy")
 SubClassOf(obo:DOID_0051055 obo:DOID_14447)
 
+# Class: obo:DOID_0051056 (immunodeficiency 113)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37349293/") obo:IAO_0000115 obo:DOID_0051056 "A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in  homozygous mutation in the ARPC5 gene on chromosome 1q25.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051056 "MIM:620565")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051056 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0051056 "DOID:0051056")
+AnnotationAssertion(rdfs:label obo:DOID_0051056 "immunodeficiency 113")
+SubClassOf(obo:DOID_0051056 obo:DOID_612)
+SubClassOf(obo:DOID_0051056 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+SubClassOf(obo:DOID_0051056 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003593))
+
 # Class: obo:DOID_0060000 (infective endocarditis)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis") Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infective_endocarditis") obo:IAO_0000115 obo:DOID_0060000 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.")
@@ -43735,14 +43747,14 @@ SubClassOf(obo:DOID_0061095 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_00000
 
 # Class: obo:DOID_0061096 (immunodeficiency 133)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37349293/") obo:IAO_0000115 obo:DOID_0061096 "A primary immunodeficiency disease that is characterized recurrent infections and features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages.")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061096 "MIM:620565")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/39560673/") obo:IAO_0000115 obo:DOID_0061096 "A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061096 "MIM:621254")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061096 "immunodeficiency 133 with autoimmunity and autoinflammation")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061096 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0061096 "DOID:0061096")
 AnnotationAssertion(rdfs:label obo:DOID_0061096 "immunodeficiency 133")
 SubClassOf(obo:DOID_0061096 obo:DOID_612)
-SubClassOf(obo:DOID_0061096 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+SubClassOf(obo:DOID_0061096 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
 # Class: obo:DOID_0061097 (immunodeficiency 132B)