added new PS series for familial focal epilepsy with variable foci

DiseaseOntology · Jan 29, 2024 · 4abfeff · 4abfeff
1 parent dfb18c3
commit 4abfeff
Showing 1 changed file with 54 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -3812,6 +3812,11 @@ Declaration(Class(obo:DOID_0081416))
 Declaration(Class(obo:DOID_0081417))
 Declaration(Class(obo:DOID_0081418))
 Declaration(Class(obo:DOID_0081419))
+Declaration(Class(obo:DOID_0081420))
+Declaration(Class(obo:DOID_0081421))
+Declaration(Class(obo:DOID_0081422))
+Declaration(Class(obo:DOID_0081423))
+Declaration(Class(obo:DOID_0081424))
 Declaration(Class(obo:DOID_0090001))
 Declaration(Class(obo:DOID_0090002))
 Declaration(Class(obo:DOID_0090003))
@@ -63282,6 +63287,55 @@ SubClassOf(obo:DOID_0081419 obo:DOID_543)
 SubClassOf(obo:DOID_0081419 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 SubClassOf(obo:DOID_0081419 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0011463))
 
+# Class: obo:DOID_0081420 (familial focal epilepsy with variable foci)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK385626/") obo:IAO_0000115 obo:DOID_0081420 "A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081420 "GARD:13295")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081420 "OMIM:PS604364")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081420 "ORDO:98820")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081420 "DEPDC5-related epilepsy")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081420 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081420 "DOID:0081420")
+AnnotationAssertion(rdfs:label obo:DOID_0081420 "familial focal epilepsy with variable foci"@en)
+SubClassOf(obo:DOID_0081420 obo:DOID_2234)
+SubClassOf(obo:DOID_0081420 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0081421 (familial focal epilepsy with variable foci 1)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32848577/") obo:IAO_0000115 obo:DOID_0081421 "A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081421 "OMIM:604364")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081421 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081421 "DOID:0081421")
+AnnotationAssertion(rdfs:label obo:DOID_0081421 "familial focal epilepsy with variable foci 1"@en)
+SubClassOf(obo:DOID_0081421 obo:DOID_0081420)
+
+# Class: obo:DOID_0081422 (familial focal epilepsy with variable foci 2)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26505888/") obo:IAO_0000115 obo:DOID_0081422 "A familial focal epilepsy with variable foci that has_material_basis_in  heterozygous mutation in the NPRL2 gene on chromosome 3p21.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081422 "OMIM:617116")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081422 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081422 "DOID:0081422")
+AnnotationAssertion(rdfs:label obo:DOID_0081422 "familial focal epilepsy with variable foci 2"@en)
+SubClassOf(obo:DOID_0081422 obo:DOID_0081420)
+
+# Class: obo:DOID_0081423 (familial focal epilepsy with variable foci 3)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26505888/") obo:IAO_0000115 obo:DOID_0081423 "A familial focal epilepsy with variable foci that has_material_basis_in  heterozygous mutation in the NPRL3 gene on chromosome 16p13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081423 "OMIM:617118")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081423 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081423 "DOID:0081423")
+AnnotationAssertion(rdfs:label obo:DOID_0081423 "familial focal epilepsy with variable foci 3"@en)
+SubClassOf(obo:DOID_0081423 obo:DOID_0081420)
+
+# Class: obo:DOID_0081424 (familial focal epilepsy with variable foci 4)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28235671/") obo:IAO_0000115 obo:DOID_0081424 "A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081424 "OMIM:617935")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081424 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081424 "DOID:0081424")
+AnnotationAssertion(rdfs:label obo:DOID_0081424 "familial focal epilepsy with variable foci 4"@en)
+SubClassOf(obo:DOID_0081424 obo:DOID_0081420)
+
 # Class: obo:DOID_0090001 (Fraser syndrome)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12766769") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16894541") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22510445") obo:IAO_0000115 obo:DOID_0090001 "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.")