diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 6d02f5bd5..d43fe1064 100644 --- 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)