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Add pancreatic agenesis 2
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@csbjohnson
csbjohnson committed Sep 10, 2024
1 parent 063fbe9 commit b958efc
Showing 1 changed file with 12 additions and 2 deletions.
14 changes: 12 additions & 2 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -1964,6 +1964,7 @@ Declaration(Class(obo:DOID_0060984))
Declaration(Class(obo:DOID_0060985))
Declaration(Class(obo:DOID_0060986))
Declaration(Class(obo:DOID_0060987))
Declaration(Class(obo:DOID_0060988))
Declaration(Class(obo:DOID_0070000))
Declaration(Class(obo:DOID_0070001))
Declaration(Class(obo:DOID_0070002))
Expand Down Expand Up @@ -26365,7 +26366,7 @@ 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)
# Class: obo:DOID_0050877 (pancreatic agenesis 1)

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")
Expand All @@ -26378,7 +26379,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050877 "partial pancreati
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"@en)
AnnotationAssertion(rdfs:label obo:DOID_0050877 "pancreatic agenesis 1"@en)
SubClassOf(obo:DOID_0050877 obo:DOID_26)

# Class: obo:DOID_0050878 (obsolete CLONE OF congenital afibrinogenemia)
Expand Down Expand Up @@ -41610,6 +41611,15 @@ AnnotationAssertion(rdfs:label obo:DOID_0060987 "preaxial polydactyly I"@en)
SubClassOf(obo:DOID_0060987 obo:DOID_1148)
SubClassOf(obo:DOID_0060987 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))

# 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(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)

# 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)
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#1379

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