diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 44bc642a..ced478fb 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -17413,7 +17413,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_0050178 "true"^^xsd:boolean) # Class: obo:DOID_0050179 (Powassan encephalitis) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732952/") obo:IAO_0000115 obo:DOID_0050179 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC5732952/") obo:IAO_0000115 obo:DOID_0050179 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma."@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050179 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0050179 "DOID:0050179") AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050179 doid:DO_infectious_disease_slim) @@ -28321,7 +28321,7 @@ SubClassOf(obo:DOID_0060027 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014 # Class: obo:DOID_0060028 (Good syndrome) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Good_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102047/") obo:IAO_0000115 obo:DOID_0060028 "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Good_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC3102047/") obo:IAO_0000115 obo:DOID_0060028 "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma."@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060028 "thymoma with hypogammaglobulinemia"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060028 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0060028 "DOID:0060028") @@ -30634,7 +30634,7 @@ SubClassOf(obo:DOID_0060214 obo:DOID_332) # Class: obo:DOID_0060215 (Balo concentric sclerosis) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32140322/") Annotation(oboInOwl:hasDbXref "url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110404/") obo:IAO_0000115 obo:DOID_0060215 "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32140322/") Annotation(oboInOwl:hasDbXref "url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC3110404/") obo:IAO_0000115 obo:DOID_0060215 "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor."@en) AnnotationAssertion(oboInOwl:created_by obo:DOID_0060215 "emitraka") AnnotationAssertion(oboInOwl:creation_date obo:DOID_0060215 "2014-09-18T15:02:17Z") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060215 "GARD:5885") @@ -31811,7 +31811,7 @@ SubClassOf(obo:DOID_0060274 obo:DOID_0060264) # Class: obo:DOID_0060275 (pontocerebellar hypoplasia type 6) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/611523") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17847012/") obo:IAO_0000115 obo:DOID_0060275 "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17847012/") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/611523") obo:IAO_0000115 obo:DOID_0060275 "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene."@en) AnnotationAssertion(oboInOwl:created_by obo:DOID_0060275 "emitraka") AnnotationAssertion(oboInOwl:creation_date obo:DOID_0060275 "2015-02-04T14:28:28Z") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060275 "GARD:10710") @@ -32383,7 +32383,7 @@ SubClassOf(obo:DOID_0060305 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014 # Class: obo:DOID_0060306 (Meier-Gorlin syndrome) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007644) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome") Annotation(oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14564153") Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37059840/") obo:IAO_0000115 obo:DOID_0060306 "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007644) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome") Annotation(oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome") Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37059840/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/14564153") obo:IAO_0000115 obo:DOID_0060306 "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation."@en) AnnotationAssertion(oboInOwl:created_by obo:DOID_0060306 "emitraka") AnnotationAssertion(oboInOwl:creation_date obo:DOID_0060306 "2015-02-10T12:40:39Z") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060306 "GARD:2033") @@ -46289,7 +46289,7 @@ SubClassOf(obo:DOID_0070342 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581)) # Class: obo:DOID_0070343 (CSF1R-related brain malformation and osteopetrosis) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506793/") obo:IAO_0000115 obo:DOID_0070343 "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC6506793/") obo:IAO_0000115 obo:DOID_0070343 "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070343 "MIM:600329") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070343 "osteoporosis and infantile neuroaxonal dystrophy"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070343 "disease_ontology") @@ -54168,7 +54168,7 @@ SubClassOf(obo:DOID_0080355 obo:DOID_3119) # Class: obo:DOID_0080356 (IgG4-related disease) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12521/index") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760655/") Annotation(oboInOwl:hasDbXref "url:https://www.nejm.org/doi/full/10.1056/NEJMra1104650") obo:IAO_0000115 obo:DOID_0080356 "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12521/index") Annotation(oboInOwl:hasDbXref "url:https://www.nejm.org/doi/full/10.1056/NEJMra1104650") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4760655/") obo:IAO_0000115 obo:DOID_0080356 "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080356 "GARD:12521") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080356 "ORDO:284264") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080356 "disease_ontology") @@ -56774,7 +56774,7 @@ SubClassOf(obo:DOID_0080574 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197)) # Class: obo:DOID_0080575 (Larsen-like syndrome B3GAT3 type) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25893793") obo:IAO_0000115 obo:DOID_0080575 "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25893793") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4654953/") obo:IAO_0000115 obo:DOID_0080575 "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080575 "MIM:245600") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080575 "ORDO:284139") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080575 "Larsen-like syndrome, B3GAT3 type"@en) @@ -58009,7 +58009,7 @@ SubClassOf(obo:DOID_0080691 obo:DOID_0080690) # Class: obo:DOID_0080692 (Noonan syndrome-like disorder with loose anagen hair 1) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25137548/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30329053/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213265/") obo:IAO_0000115 obo:DOID_0080692 "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25137548/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30329053/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4213265/") obo:IAO_0000115 obo:DOID_0080692 "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080692 "MIM:607721") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080692 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0080692 "DOID:0080692") @@ -59332,7 +59332,7 @@ SubClassOf(obo:DOID_0080808 obo:DOID_0050904) # Class: obo:DOID_0080809 (chronic asthma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK7223/") Annotation(oboInOwl:hasDbXref "url:https://www.nhlbi.nih.gov/health-topics/asthma") obo:IAO_0000115 obo:DOID_0080809 "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK7223/") Annotation(oboInOwl:hasDbXref "url:https://www.nhlbi.nih.gov/health/asthma") obo:IAO_0000115 obo:DOID_0080809 "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency."@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080809 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0080809 "DOID:0080809") AnnotationAssertion(rdfs:label obo:DOID_0080809 "chronic asthma"@en) @@ -60351,7 +60351,7 @@ SubClassOf(obo:DOID_0080905 obo:DOID_4439) # Class: obo:DOID_0080906 (CNS neuroblastoma with FOXR2 activation) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://link.springer.com/article/10.1007%2Fs10014-020-00370-2") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350623/") obo:IAO_0000115 obo:DOID_0080906 "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://link.springer.com/article/10.1007%2Fs10014-020-00370-2") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC7350623/") obo:IAO_0000115 obo:DOID_0080906 "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080906 "ICDO:9500/3") AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0080906 "CNS NB-FOXR2"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080906 "CNS neuroblastoma, FOXR2-activated"@en) @@ -61959,7 +61959,7 @@ SubClassOf(obo:DOID_0081063 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014 # Class: obo:DOID_0081064 (BN2 diffuse large B-cell lymphoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29641966/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/") obo:IAO_0000115 obo:DOID_0081064 "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29641966/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/") obo:IAO_0000115 obo:DOID_0081064 "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081064 "NCI:C148395") AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0081064 "BN2 DLBCL"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081064 "disease_ontology") @@ -61971,7 +61971,7 @@ SubClassOf(obo:DOID_0081064 obo:DOID_0050745) # Class: obo:DOID_0081065 (EZB diffuse large B-cell lymphoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29641966/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/") obo:IAO_0000115 obo:DOID_0081065 "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29641966/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/") obo:IAO_0000115 obo:DOID_0081065 "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081065 "NCI:C148398") AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0081065 "EZB DLBCL"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081065 "disease_ontology") @@ -61983,7 +61983,7 @@ SubClassOf(obo:DOID_0081065 obo:DOID_0050745) # Class: obo:DOID_0081066 (MCD diffuse large B-cell lymphoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29641966/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/") obo:IAO_0000115 obo:DOID_0081066 "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29641966/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/") obo:IAO_0000115 obo:DOID_0081066 "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081066 "NCI:C148394") AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0081066 "MCD DLBCL"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081066 "disease_ontology") @@ -62007,7 +62007,7 @@ SubClassOf(obo:DOID_0081067 obo:DOID_0050745) # Class: obo:DOID_0081068 (ST2 diffuse large B-cell lymphoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/") obo:IAO_0000115 obo:DOID_0081068 "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC6010183/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/") obo:IAO_0000115 obo:DOID_0081068 "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding."@en) AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0081068 "ST2 DLBCL"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081068 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0081068 "DOID:0081068") @@ -62027,7 +62027,7 @@ SubClassOf(obo:DOID_0081069 obo:DOID_0050745) # Class: obo:DOID_0081070 (EZB-MYC+ diffuse large B-cell lymphoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32289277/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/") obo:IAO_0000115 obo:DOID_0081070 "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32289277/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC6010183/") obo:IAO_0000115 obo:DOID_0081070 "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations."@en) AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0081070 "EZB-MYC+ DLBCL"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081070 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0081070 "DOID:0081070") @@ -62037,7 +62037,7 @@ SubClassOf(obo:DOID_0081070 obo:DOID_0081065) # Class: obo:DOID_0081071 (EZB-MYC- diffuse large B-cell lymphoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32289277/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/") obo:IAO_0000115 obo:DOID_0081071 "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32289277/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC6010183/") obo:IAO_0000115 obo:DOID_0081071 "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations."@en) AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0081071 "EZB-MYC- DLBCL"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081071 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0081071 "DOID:0081071") @@ -62726,7 +62726,7 @@ SubClassOf(obo:DOID_0081125 obo:DOID_0081072) # Class: obo:DOID_0081126 (DeSanto-Shinawi syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26264232/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK465012/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034681/") obo:IAO_0000115 obo:DOID_0081126 "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26264232/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK465012/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC9034681/") obo:IAO_0000115 obo:DOID_0081126 "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081126 "MIM:616708") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081126 "ORDO:284169") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081126 "ORDO:466943") @@ -63139,7 +63139,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_0081164 "true"^^xsd:boolean) # Class: obo:DOID_0081168 (HMG-CoA synthase 2 deficiency) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16601895/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369/") obo:IAO_0000115 obo:DOID_0081168 "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16601895/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC5979369/") obo:IAO_0000115 obo:DOID_0081168 "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081168 "GARD:2712") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081168 "MIM:605911") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081168 "ORDO:35701") @@ -65171,7 +65171,7 @@ SubClassOf(obo:DOID_0081361 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014 # Class: obo:DOID_0081362 (Pierpont syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26769062/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077337/") obo:IAO_0000115 obo:DOID_0081362 "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26769062/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC8077337/") obo:IAO_0000115 obo:DOID_0081362 "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081362 "MIM:602342") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081362 "ORDO:487825") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081362 "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome"@en) @@ -66186,7 +66186,7 @@ SubClassOf(obo:DOID_0081450 obo:DOID_2959) # Class: obo:DOID_0081451 (PFAPA syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356195/") obo:IAO_0000115 obo:DOID_0081451 "An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC8356195/") obo:IAO_0000115 obo:DOID_0081451 "An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081451 "GARD:5657") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081451 "ORDO:42642") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081451 "Marshall syndrome with periodic fever"@en) @@ -83907,7 +83907,7 @@ SubClassOf(obo:DOID_0111139 obo:DOID_700) # Class: obo:DOID_0111140 (IGSF1 deficiency syndrome) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23143598") obo:IAO_0000115 obo:DOID_0111140 "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23143598") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC3915563/") obo:IAO_0000115 obo:DOID_0111140 "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111140 "ICD10CM:E03.1") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111140 "MIM:300888") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111140 "ORDO:329235") @@ -102964,7 +102964,7 @@ SubClassOf(obo:DOID_10151 obo:DOID_184) # Class: obo:DOID_10152 (Meckel's diverticulum cancer) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582065/") obo:IAO_0000115 obo:DOID_10152 "An ileum cancer originating from Meckel's diverticulum."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC6582065/") obo:IAO_0000115 obo:DOID_10152 "An ileum cancer originating from Meckel's diverticulum."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10152 "ICD9CM:152.3") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10152 "SNOMEDCT_US_2023_03_01:93890009") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10152 "UMLS_CUI:C0153429") @@ -127757,7 +127757,7 @@ SubClassOf(obo:DOID_13500 obo:DOID_10944) # Class: obo:DOID_13501 (Moebius syndrome) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33474647/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082742/") obo:IAO_0000115 obo:DOID_13501 "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s)."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33474647/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4082742/") obo:IAO_0000115 obo:DOID_13501 "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s)."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13501 "GARD:8549") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13501 "ICD10CM:Q87.0") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13501 "MESH:D020331") @@ -128971,7 +128971,7 @@ SubClassOf(obo:DOID_13676 obo:DOID_13452) # Class: obo:DOID_13677 (SAPHO syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802951/") obo:IAO_0000115 obo:DOID_13677 "A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC8802951/") obo:IAO_0000115 obo:DOID_13677 "A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13677 "GARD:7606") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13677 "MESH:D020083") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13677 "NCI:C119049") @@ -129861,7 +129861,7 @@ SubClassOf(obo:DOID_13809 obo:DOID_1168) # Class: obo:DOID_1381 (Fox-Fordyce disease) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746034/") obo:IAO_0000115 obo:DOID_1381 "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4746034/") obo:IAO_0000115 obo:DOID_1381 "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1381 "GARD:6462") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1381 "ICD10CM:L75.2") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1381 "ICD9CM:705.82") @@ -133451,7 +133451,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_14327 "true"^^xsd:boolean) # Class: obo:DOID_14330 (Parkinson's disease) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parkinson%27s_disease") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26474316/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/") obo:IAO_0000115 obo:DOID_14330 "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Parkinson%27s_disease") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26474316/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC5877503/") obo:IAO_0000115 obo:DOID_14330 "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_14330 "GARD:10251") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_14330 "ICD10CM:G20") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_14330 "ICD9CM:332") @@ -149756,7 +149756,7 @@ SubClassOf(obo:DOID_2926 obo:DOID_225) # Class: obo:DOID_2929 (Newcastle disease) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Virulent_Newcastle_disease") Annotation(oboInOwl:hasDbXref "url:https://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1526237/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1822603/") obo:IAO_0000115 obo:DOID_2929 "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Virulent_Newcastle_disease") Annotation(oboInOwl:hasDbXref "url:https://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC1526237/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC1822603/") obo:IAO_0000115 obo:DOID_2929 "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2929 "MESH:D009521") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2929 "NCI:C34849") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2929 "SNOMEDCT_US_2023_03_01:258300000") @@ -151042,7 +151042,7 @@ SubClassOf(obo:DOID_3044 obo:DOID_0060502) # Class: obo:DOID_3047 (Wissler-Fanconi syndrome) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wissler%27s_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5098720/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8150635") obo:IAO_0000115 obo:DOID_3047 "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wissler%27s_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8150635") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC5098720/") obo:IAO_0000115 obo:DOID_3047 "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3047 "MESH:D014924") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3047 "SNOMEDCT_US_2023_03_01:68190001") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3047 "UMLS_CUI:C0043195") @@ -151463,7 +151463,7 @@ SubClassOf(obo:DOID_3082 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0019153)) # Class: obo:DOID_3083 (chronic obstructive pulmonary disease) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28513453/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32745458/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32800196/") Annotation(oboInOwl:hasDbXref "url:https://www.nhlbi.nih.gov/health-topics/copd") obo:IAO_0000115 obo:DOID_3083 "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both."@en) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28513453/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32745458/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32800196/") Annotation(oboInOwl:hasDbXref "url:https://www.nhlbi.nih.gov/health/copd") obo:IAO_0000115 obo:DOID_3083 "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both."@en) AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_3083 "DOID:11500") AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_3083 "DOID:6144") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3083 "EFO:0000341") @@ -153264,7 +153264,7 @@ SubClassOf(obo:DOID_3246 obo:DOID_3247) # Class: obo:DOID_3247 (rhabdomyosarcoma) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425116/") obo:IAO_0000115 obo:DOID_3247 "A skeletal muscle cancer that arise from skeletal muscle progenitors."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma") Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9425116/") obo:IAO_0000115 obo:DOID_3247 "A skeletal muscle cancer that arise from skeletal muscle progenitors."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3247 "ICDO:8900/3") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3247 "MESH:D012208") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3247 "NCI:C3359") @@ -153426,7 +153426,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_3260 doid:NCIthesaurus) AnnotationAssertion(rdfs:label obo:DOID_3260 "spindle cell rhabdomyosarcoma"@en) SubClassOf(obo:DOID_3260 obo:DOID_3247) -# Class: obo:DOID_3261 (STAT3 Hyper IgE syndrome) +# Class: obo:DOID_3261 (hyper IgE recurrent infection syndrome 1) AnnotationAssertion(Annotation(dc:type obo:ECO_0007646) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK25507/") Annotation(oboInOwl:hasDbXref "url:https://www.niaid.nih.gov/diseases-conditions/stat3-dominant-negative-disease") obo:IAO_0000115 obo:DOID_3261 "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3261 "GARD:6800") @@ -153440,14 +153440,14 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3261 "UMLS_CUI:C2936739") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "Job syndrome"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "Job's syndrome"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "hyperimmunoglobulin E syndrome"@en) -AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "hyper IgE recurrent infection syndrome 1") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "STAT3 Hyper IgE syndrome") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_3261 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_3261 "DOID:3261") AnnotationAssertion(oboInOwl:inSubset obo:DOID_3261 doid:DO_rare_slim) AnnotationAssertion(oboInOwl:inSubset obo:DOID_3261 doid:NCIthesaurus) AnnotationAssertion(rdfs:comment obo:DOID_3261 "OMIM mapping confirmed by DO. [SN]."@en) AnnotationAssertion(rdfs:comment obo:DOID_3261 "nomenclature update Oct 2024.LS") -AnnotationAssertion(rdfs:label obo:DOID_3261 "STAT3 Hyper IgE syndrome"@en) +AnnotationAssertion(rdfs:label obo:DOID_3261 "hyper IgE recurrent infection syndrome 1"@en) SubClassOf(obo:DOID_3261 obo:DOID_0080545) SubClassOf(obo:DOID_3261 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147)) @@ -155004,7 +155004,7 @@ SubClassOf(obo:DOID_3388 obo:DOID_403) # Class: obo:DOID_3389 (Papillon-Lefevre disease) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/") obo:IAO_0000115 obo:DOID_3389 "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4507741/") obo:IAO_0000115 obo:DOID_3389 "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3389 "GARD:3100") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3389 "MESH:D010214") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3389 "MIM:245000") @@ -160776,7 +160776,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_3997 "true"^^xsd:boolean) # Class: obo:DOID_3998 (Bartholin's gland transitional cell carcinoma) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081365/") obo:IAO_0000115 obo:DOID_3998 "A Bartholin's gland carcinoma that derives_from transitional epithelial cells."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4081365/") obo:IAO_0000115 obo:DOID_3998 "A Bartholin's gland carcinoma that derives_from transitional epithelial cells."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3998 "NCI:C40297") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3998 "UMLS_CUI:C1511053") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3998 "Bartholin gland transitional cell carcinoma"@en) @@ -174072,7 +174072,7 @@ SubClassOf(obo:DOID_5364 obo:DOID_3683) # Class: obo:DOID_5368 (Wolffian duct adenocarcinoma) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230074/") obo:IAO_0000115 obo:DOID_5368 "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4230074/") obo:IAO_0000115 obo:DOID_5368 "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5368 "NCI:C40254") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5368 "UMLS_CUI:C1516419") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_5368 "cervical mesonephric adenocarcinoma"@en) @@ -186242,7 +186242,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_6861 "true"^^xsd:boolean) # Class: obo:DOID_6865 (oxyphilic endometrial endometrioid adenocarcinoma) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/7814190/") obo:IAO_0000115 obo:DOID_6865 "An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/7814190/") Annotation(oboInOwl:hasDbXref "url:https://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type") obo:IAO_0000115 obo:DOID_6865 "An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_6865 "NCI:C27849") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_6865 "UMLS_CUI:C1518768") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_6865 "disease_ontology")