Update pancreatic agenesis subtypes

DiseaseOntology · Nov 1, 2024 · 442b533 · 442b533
1 parent 2527d16
commit 442b533
Showing 1 changed file with 15 additions and 5 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -1978,6 +1978,7 @@ Declaration(Class(obo:DOID_0060998))
 Declaration(Class(obo:DOID_0060999))
 Declaration(Class(obo:DOID_0061001))
 Declaration(Class(obo:DOID_0061002))
+Declaration(Class(obo:DOID_0061003))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -26404,20 +26405,19 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050876 doid:NCIthesaurus)
 AnnotationAssertion(rdfs:label obo:DOID_0050876 "Caroli disease"@en)
 SubClassOf(obo:DOID_0050876 obo:DOID_4138)
 
-# Class: obo:DOID_0050877 (pancreatic agenesis 1)
+# Class: obo:DOID_0050877 (pancreatic agenesis)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf") obo:IAO_0000115 obo:DOID_0050877 "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth."@en)
 AnnotationAssertion(oboInOwl:created_by obo:DOID_0050877 "lschriml")
 AnnotationAssertion(oboInOwl:creation_date obo:DOID_0050877 "2014-07-09T03:35:41Z")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050877 "GARD:4203")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050877 "MIM:260370")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050877 "ORDO:2805")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050877 "Agenesis of the dorsal pancreas"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050877 "partial pancreatic agenesis"@en)
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050877 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0050877 "DOID:0050877")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050877 doid:DO_rare_slim)
-AnnotationAssertion(rdfs:label obo:DOID_0050877 "pancreatic agenesis 1"@en)
+AnnotationAssertion(rdfs:label obo:DOID_0050877 "pancreatic agenesis"@en)
 SubClassOf(obo:DOID_0050877 obo:DOID_26)
 
 # Class: obo:DOID_0050878 (obsolete CLONE OF congenital afibrinogenemia)
@@ -41666,12 +41666,12 @@ SubClassOf(obo:DOID_0060987 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 # Class: obo:DOID_0060988 (pancreatic agenesis 2)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24212882/") obo:IAO_0000115 obo:DOID_0060988 "A pancreas disease that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24212882/") obo:IAO_0000115 obo:DOID_0060988 "A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060988 "MIM:615935")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060988 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0060988 "DOID:0060988")
 AnnotationAssertion(rdfs:label obo:DOID_0060988 "pancreatic agenesis 2"@en)
-SubClassOf(obo:DOID_0060988 obo:DOID_26)
+SubClassOf(obo:DOID_0060988 obo:DOID_0050877)
 SubClassOf(obo:DOID_0060988 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
 # Class: obo:DOID_0060989 (short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1)
@@ -41800,6 +41800,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061002 "congenital amegakaryocytic thro
 SubClassOf(obo:DOID_0061002 obo:DOID_1588)
 SubClassOf(obo:DOID_0061002 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0061003 (pancreatic agenesis 1)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20009086/") obo:IAO_0000115 obo:DOID_0061003 "A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061003 "MIM:260370")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061003 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061003 "DOID:0061003")
+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_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)