Nomenclature review of transthyretin amyloidosis

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -23259,7 +23259,7 @@ SubClassOf(obo:DOID_0050637 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_00010
 SubClassOf(obo:DOID_0050637 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_3144))
 SubClassOf(obo:DOID_0050637 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_8943))
 
-# Class: obo:DOID_0050638 (transthyretin amyloidosis)
+# Class: obo:DOID_0050638 (hereditary systemic amyloidosis 1)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(dc:type obo:ECO_0007646) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis") Annotation(oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis") Annotation(oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/books/NBK1194/") Annotation(oboInOwl:hasDbXref "url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451") Annotation(oboInOwl:hasDbXref "url:http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1194/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19372706") obo:IAO_0000115 obo:DOID_0050638 "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.")
 AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0050638 "DOID:0050761")
@@ -23276,12 +23276,13 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050638 "TTR amyloidosis")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050638 "familial amyloid polyneuropathy")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050638 "paramyloidosis")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050638 "transthyretin-related hereditary amyloidosis")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050638 "transthyretin amyloidosis")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050638 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0050638 "DOID:0050638")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050638 doid:DO_FlyBase_slim)
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050638 doid:DO_rare_slim)
 AnnotationAssertion(rdfs:comment obo:DOID_0050638 "OMIM mapping confirmed by DO. [SN].")
-AnnotationAssertion(rdfs:label obo:DOID_0050638 "transthyretin amyloidosis")
+AnnotationAssertion(rdfs:label obo:DOID_0050638 "hereditary systemic amyloidosis 1")
 SubClassOf(obo:DOID_0050638 obo:DOID_9120)
 SubClassOf(obo:DOID_0050638 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 SubClassOf(obo:DOID_0050638 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0000948))