adding ALS subtypes

DiseaseOntology · Oct 17, 2023 · 5a1d014 · 5a1d014
1 parent 500f4ff
commit 5a1d014
Showing 1 changed file with 59 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -13879,6 +13879,11 @@ Declaration(Class(obo:DOID_999))
 Declaration(Class(obo:DOID_9993))
 Declaration(Class(obo:DOID_9995))
 Declaration(Class(obo:DOID_9997))
+Declaration(Class(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081370>))
+Declaration(Class(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081371>))
+Declaration(Class(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081372>))
+Declaration(Class(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081373>))
+Declaration(Class(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081374>))
 Declaration(ObjectProperty(obo:IDO_0000664))
 Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO#_is_a>))
 Declaration(AnnotationProperty(obo:IAO_0000115))
@@ -203896,6 +203901,60 @@ AnnotationAssertion(rdfs:label obo:DOID_9997 "peripartum cardiomyopathy")
 SubClassOf(obo:DOID_9997 obo:DOID_12930)
 SubClassOf(obo:DOID_9997 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000094))
 
+# Class: <http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> (amyotrophic lateral sclerosis type 24)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26945885/") obo:IAO_0000115 <http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33.")
+AnnotationAssertion(oboInOwl:hasDbXref <http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> "OMIM:17892")
+AnnotationAssertion(oboInOwl:hasOBONamespace <http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> "disease_ontology")
+AnnotationAssertion(oboInOwl:id <http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> "DOID:0081370")
+AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> "amyotrophic lateral sclerosis type 24"@en)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> obo:DOID_332)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081370> ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
+
+# Class: <http://purl.obolibrary.org/obo/doid.owl/DOID_0081371> (amyotrophic lateral sclerosis type 25)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29566793/") obo:IAO_0000115 <http://purl.obolibrary.org/obo/doid.owl/DOID_0081371> "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).")
+AnnotationAssertion(oboInOwl:hasDbXref <http://purl.obolibrary.org/obo/doid.owl/DOID_0081371> "OMIM:617921")
+AnnotationAssertion(oboInOwl:hasOBONamespace <http://purl.obolibrary.org/obo/doid.owl/DOID_0081371> "disease_ontology")
+AnnotationAssertion(oboInOwl:id <http://purl.obolibrary.org/obo/doid.owl/DOID_0081371> "DOID:0081371")
+AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/doid.owl/DOID_0081371> "amyotrophic lateral sclerosis type 25"@en)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081371> obo:DOID_332)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081371> ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: <http://purl.obolibrary.org/obo/doid.owl/DOID_0081372> (amyotrophic lateral sclerosis type 26)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28817800/") obo:IAO_0000115 <http://purl.obolibrary.org/obo/doid.owl/DOID_0081372> "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13.")
+AnnotationAssertion(oboInOwl:hasDbXref <http://purl.obolibrary.org/obo/doid.owl/DOID_0081372> "OMIM:619133")
+AnnotationAssertion(oboInOwl:hasOBONamespace <http://purl.obolibrary.org/obo/doid.owl/DOID_0081372> "disease_ontology")
+AnnotationAssertion(oboInOwl:id <http://purl.obolibrary.org/obo/doid.owl/DOID_0081372> "DOID:0081372")
+AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/doid.owl/DOID_0081372> "amyotrophic lateral sclerosis type 26"@en)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081372> obo:DOID_332)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081372> ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: <http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> (juvenile amyotrophic lateral sclerosis type 27)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34059824/") obo:IAO_0000115 <http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.")
+AnnotationAssertion(oboInOwl:hasDbXref <http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> "OMIM:620285")
+AnnotationAssertion(oboInOwl:hasOBONamespace <http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> "disease_ontology")
+AnnotationAssertion(oboInOwl:id <http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> "DOID:0081373")
+AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> "juvenile amyotrophic lateral sclerosis type 27"@en)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> obo:DOID_332)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081373> ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003621))
+
+# Class: <http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> (amyotrophic lateral sclerosis type 28)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37339631/") obo:IAO_0000115 <http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.")
+AnnotationAssertion(oboInOwl:hasDbXref <http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> "OMIM:620452")
+AnnotationAssertion(oboInOwl:hasOBONamespace <http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> "disease_ontology")
+AnnotationAssertion(oboInOwl:id <http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> "DOID:0081374")
+AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> "amyotrophic lateral sclerosis type 28"@en)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> obo:DOID_332)
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> ObjectSomeValuesFrom(obo:IDO_0000664 obo:SO_0002165))
+SubClassOf(<http://purl.obolibrary.org/obo/doid.owl/DOID_0081374> ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
+
 
 DisjointClasses(obo:DOID_0060160 obo:DOID_0060161 obo:DOID_0111064 obo:DOID_0111065 obo:DOID_4873)
 DisjointClasses(obo:DOID_0060376 obo:DOID_0110980 obo:DOID_0110981 obo:DOID_0110982 obo:DOID_0110983 obo:DOID_0110984 obo:DOID_0110985 obo:DOID_0110986 obo:DOID_0110987 obo:DOID_0110988 obo:DOID_0110989 obo:DOID_0110990 obo:DOID_0110991 obo:DOID_0110992 obo:DOID_0110993 obo:DOID_0110994 obo:DOID_0110995 obo:DOID_0110996 obo:DOID_0110997 obo:DOID_0110998 obo:DOID_0110999 obo:DOID_0111000 obo:DOID_0111001 obo:DOID_0111002 obo:DOID_0111003 obo:DOID_0111004)