Updates to poor metabolism of thiopurines subtypes

DiseaseOntology · Nov 1, 2024 · 6aa5d98 · 6aa5d98
1 parent 15b1865
commit 6aa5d98
Showing 1 changed file with 16 additions and 5 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -1979,6 +1979,7 @@ Declaration(Class(obo:DOID_0060999))
 Declaration(Class(obo:DOID_0061001))
 Declaration(Class(obo:DOID_0061002))
 Declaration(Class(obo:DOID_0061003))
+Declaration(Class(obo:DOID_0061004))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -41744,12 +41745,12 @@ SubClassOf(obo:DOID_0060995 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 # Class: obo:DOID_0060996 (poor metabolism of thiopurines 2)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26878724/") obo:IAO_0000115 obo:DOID_0060996 "An inherited metabolic disease that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26878724/") obo:IAO_0000115 obo:DOID_0060996 "A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14."@en)
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060996 "MIM:616903")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060996 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0060996 "DOID:0060996")
 AnnotationAssertion(rdfs:label obo:DOID_0060996 "poor metabolism of thiopurines 2"@en)
-SubClassOf(obo:DOID_0060996 obo:DOID_655)
+SubClassOf(obo:DOID_0060996 obo:DOID_0080172)
 SubClassOf(obo:DOID_0060996 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
 # Class: obo:DOID_0060997 (rhabdoid tumor predisposition syndrome 2)
@@ -41811,6 +41812,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061003 "pancreatic agenesis 1"@en)
 SubClassOf(obo:DOID_0061003 obo:DOID_0050877)
 SubClassOf(obo:DOID_0061003 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0061004 (poor metabolism of thiopurines 1)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/2758725/") obo:IAO_0000115 obo:DOID_0061004 "A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22."@en)
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061004 "MIM:610460")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061004 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061004 "DOID:0061004")
+AnnotationAssertion(rdfs:label obo:DOID_0061004 "poor metabolism of thiopurines 1"@en)
+SubClassOf(obo:DOID_0061004 obo:DOID_0080172)
+SubClassOf(obo:DOID_0061004 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # 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)
@@ -52236,16 +52247,16 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080171 doid:DO_rare_slim)
 AnnotationAssertion(rdfs:label obo:DOID_0080171 "esophageal atresia/tracheoesophageal fistula"@en)
 SubClassOf(obo:DOID_0080171 obo:DOID_77)
 
-# Class: obo:DOID_0080172 (poor metabolism of thiopurines 1)
+# Class: obo:DOID_0080172 (poor metabolism of thiopurines)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics") obo:IAO_0000115 obo:DOID_0080172 "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines."@en)
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080172 "MESH:C536512")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080172 "MIM:610460")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080172 "MIM:PS610460")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080172 "TPMT deficiency"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080172 "thiopurine S-methyltransferase deficiency"@en)
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080172 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0080172 "DOID:0080172")
-AnnotationAssertion(rdfs:label obo:DOID_0080172 "poor metabolism of thiopurines 1"@en)
+AnnotationAssertion(rdfs:label obo:DOID_0080172 "poor metabolism of thiopurines"@en)
 SubClassOf(obo:DOID_0080172 obo:DOID_655)
 SubClassOf(obo:DOID_0080172 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))