added subtypes myofibrillar myopathy

Author: lschriml

src/ontology/doid-edit.owl

@@ -1103,6 +1103,8 @@ Declaration(Class(obo:DOID_0051040))
 Declaration(Class(obo:DOID_0051041))
 Declaration(Class(obo:DOID_0051042))
 Declaration(Class(obo:DOID_0051043))
+Declaration(Class(obo:DOID_0051044))
+Declaration(Class(obo:DOID_0051045))
 Declaration(Class(obo:DOID_0060000))
 Declaration(Class(obo:DOID_0060001))
 Declaration(Class(obo:DOID_0060002))
@@ -28487,6 +28489,29 @@ SubClassOf(obo:DOID_0051043 obo:DOID_0050539)
 SubClassOf(obo:DOID_0051043 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 SubClassOf(obo:DOID_0051043 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
 
+# Class: obo:DOID_0051044 (infantile-onset myofibrillar myopathy 12 with cardiomyopathy)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23365102/") obo:IAO_0000115 obo:DOID_0051044 "A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051044 "MIM:619424")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051044 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0051044 "DOID:0051044")
+AnnotationAssertion(rdfs:label obo:DOID_0051044 "infantile-onset myofibrillar myopathy 12 with cardiomyopathy")
+SubClassOf(obo:DOID_0051044 obo:DOID_0080307)
+SubClassOf(obo:DOID_0051044 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+SubClassOf(obo:DOID_0051044 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003593))
+SubClassOf(obo:DOID_0051044 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0001133))
+SubClassOf(obo:DOID_0051044 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0001134))
+
+# Class: obo:DOID_0051045 (myofibrillar myopathy 13 with rimmed vacuoles)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31403083/") obo:IAO_0000115 obo:DOID_0051045 "A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051045 "MIM:621078")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051045 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0051045 "DOID:0051045")
+AnnotationAssertion(rdfs:label obo:DOID_0051045 "myofibrillar myopathy 13 with rimmed vacuoles")
+SubClassOf(obo:DOID_0051045 obo:DOID_0080307)
+SubClassOf(obo:DOID_0051045 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # 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.")
@@ -52447,7 +52472,7 @@ SubClassOf(obo:DOID_0080096 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 # Class: obo:DOID_0080097 (myofibrillar myopathy 6)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22734908/") obo:IAO_0000115 obo:DOID_0080097 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22734908/") obo:IAO_0000115 obo:DOID_0080097 "A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.")
 AnnotationAssertion(oboInOwl:created_by obo:DOID_0080097 "lschriml")
 AnnotationAssertion(oboInOwl:creation_date obo:DOID_0080097 "2015-11-10T16:59:22Z")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080097 "MIM:612954")
@@ -162494,7 +162519,7 @@ AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_4043 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_4043 "DOID:4043")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_4043 doid:NCIthesaurus)
 AnnotationAssertion(rdfs:label obo:DOID_4043 "skeletal muscle cancer")
-EquivalentClasses(obo:DOID_4043 ObjectIntersectionOf(obo:DOID_162 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0002036)))
+EquivalentClasses(obo:DOID_4043 ObjectIntersectionOf(obo:DOID_162 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0001134)))
 SubClassOf(obo:DOID_4043 obo:DOID_4045)
 
 # Class: obo:DOID_4044 (skeletal muscle neoplasm)
@@ -162508,6 +162533,7 @@ AnnotationAssertion(oboInOwl:id obo:DOID_4044 "DOID:4044")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_4044 doid:NCIthesaurus)
 AnnotationAssertion(rdfs:label obo:DOID_4044 "skeletal muscle neoplasm")
 SubClassOf(obo:DOID_4044 obo:DOID_461)
+SubClassOf(obo:DOID_4044 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0001134))
 
 # Class: obo:DOID_4045 (muscle cancer)