added otosclerosis subtypes

DiseaseOntology · Dec 1, 2023 · 9eb1f8c · 9eb1f8c
1 parent 131e2b5
commit 9eb1f8c
Showing 1 changed file with 110 additions and 2 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -1896,6 +1896,15 @@ Declaration(Class(obo:DOID_0060916))
 Declaration(Class(obo:DOID_0060917))
 Declaration(Class(obo:DOID_0060918))
 Declaration(Class(obo:DOID_0060919))
+Declaration(Class(obo:DOID_0060920))
+Declaration(Class(obo:DOID_0060921))
+Declaration(Class(obo:DOID_0060922))
+Declaration(Class(obo:DOID_0060923))
+Declaration(Class(obo:DOID_0060924))
+Declaration(Class(obo:DOID_0060925))
+Declaration(Class(obo:DOID_0060926))
+Declaration(Class(obo:DOID_0060927))
+Declaration(Class(obo:DOID_0060928))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -40503,6 +40512,105 @@ AnnotationAssertion(rdfs:label obo:DOID_0060919 "proteosome-associated autoinfla
 SubClassOf(obo:DOID_0060919 obo:DOID_0060913)
 SubClassOf(obo:DOID_0060919 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0060920 (otosclerosis 1)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/9425236/") obo:IAO_0000115 obo:DOID_0060920 "An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060920 "OMIM:166800")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060920 "OTSC1")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060920 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060920 "DOID:0060920")
+AnnotationAssertion(rdfs:label obo:DOID_0060920 "otosclerosis 1")
+SubClassOf(obo:DOID_0060920 obo:DOID_12185)
+SubClassOf(obo:DOID_0060920 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0060921 (otosclerosis 2)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/11170898/") obo:IAO_0000115 obo:DOID_0060921 "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060921 "OMIM:605727")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060921 "OTSC2")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060921 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060921 "DOID:0060921")
+AnnotationAssertion(rdfs:label obo:DOID_0060921 "otosclerosis 2")
+SubClassOf(obo:DOID_0060921 obo:DOID_12185)
+SubClassOf(obo:DOID_0060921 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0060922 (otosclerosis 3)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17568407/") obo:IAO_0000115 obo:DOID_0060922 "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060922 "OMIM:608244")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060922 "OTSC3")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060922 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060922 "DOID:0060922")
+AnnotationAssertion(rdfs:label obo:DOID_0060922 "otosclerosis 3")
+SubClassOf(obo:DOID_0060922 obo:DOID_12185)
+SubClassOf(obo:DOID_0060922 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0060923 (otosclerosis 4)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16618911/") obo:IAO_0000115 obo:DOID_0060923 "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060923 "OMIM:611571")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060923 "OTSC4")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060923 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060923 "DOID:0060923")
+AnnotationAssertion(rdfs:label obo:DOID_0060923 "otosclerosis 4")
+SubClassOf(obo:DOID_0060923 obo:DOID_12185)
+SubClassOf(obo:DOID_0060923 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0060924 (otosclerosis 5)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15173231/") obo:IAO_0000115 obo:DOID_0060924 "An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060924 "OMIM:608787")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060924 "OTSC5")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060924 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060924 "DOID:0060924")
+AnnotationAssertion(rdfs:label obo:DOID_0060924 "otosclerosis 5")
+SubClassOf(obo:DOID_0060924 obo:DOID_12185)
+SubClassOf(obo:DOID_0060924 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0060925 (otosclerosis 7)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17213839/") obo:IAO_0000115 obo:DOID_0060925 "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060925 "OMIM:611572")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060925 "OTSC7")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060925 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060925 "DOID:0060925")
+AnnotationAssertion(rdfs:label obo:DOID_0060925 "otosclerosis 7")
+SubClassOf(obo:DOID_0060925 obo:DOID_12185)
+SubClassOf(obo:DOID_0060925 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0060926 (otosclerosis 8)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17568407/") obo:IAO_0000115 obo:DOID_0060926 "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060926 "OMIM:612096")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060926 "OTSC8")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060926 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060926 "DOID:0060926")
+AnnotationAssertion(rdfs:label obo:DOID_0060926 "otosclerosis 8")
+SubClassOf(obo:DOID_0060926 obo:DOID_12185)
+SubClassOf(obo:DOID_0060926 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0060927 (otosclerosis 10)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21470211/") obo:IAO_0000115 obo:DOID_0060927 "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060927 "OMIM:615589")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060927 "OTSC10")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060927 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060927 "DOID:0060927")
+AnnotationAssertion(rdfs:label obo:DOID_0060927 "otosclerosis 10")
+SubClassOf(obo:DOID_0060927 obo:DOID_12185)
+SubClassOf(obo:DOID_0060927 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0060928 (otosclerosis 11)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34633540/") obo:IAO_0000115 obo:DOID_0060928 "An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060928 "OMIM:620576")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060928 "OTSC11")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060928 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0060928 "DOID:0060928")
+AnnotationAssertion(rdfs:label obo:DOID_0060928 "otosclerosis 11")
+SubClassOf(obo:DOID_0060928 obo:DOID_12185)
+SubClassOf(obo:DOID_0060928 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # 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.")
@@ -82695,10 +82803,10 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111331 "GARD:12501")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111331 "OMIM:613670")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111331 "ORDO:391372")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111331 "FOXP1 syndrome"@en)
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111331 "Mental retardation with language impairment and with or without autistic features"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111331 "FOXP1 Haploinsufficiency")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111331 "FOXP1 syndrome"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111331 "FOXP1-Related Neurodevelopmental Disorder")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111331 "Mental retardation with language impairment and with or without autistic features"@en)
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111331 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0111331 "DOID:0111331")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0111331 doid:DO_rare_slim)