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updated large b-cell lymphomas
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lschriml committed Apr 29, 2024
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Showing 1 changed file with 22 additions and 13 deletions.
35 changes: 22 additions & 13 deletions src/ontology/doid-edit.owl
Original file line number Diff line number Diff line change
Expand Up @@ -13,7 +13,7 @@ Prefix(oboInOwl:=<http://www.geneontology.org/formats/oboInOwl#>)


Ontology(<http://purl.obolibrary.org/obo/doid.owl>
<http://purl.obolibrary.org/obo/doid/releases/2024-03-28/doid.owl>
<http://purl.obolibrary.org/obo/doid/releases/2024-04-30/doid.owl>
Import(<http://purl.obolibrary.org/obo/doid/obo/ext.owl>)
Annotation(obo:IAO_0000700 obo:DOID_4)
Annotation(dc:description "The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts.")
Expand Down Expand Up @@ -3875,6 +3875,7 @@ Declaration(Class(obo:DOID_0081448))
Declaration(Class(obo:DOID_0081449))
Declaration(Class(obo:DOID_0081450))
Declaration(Class(obo:DOID_0081451))
Declaration(Class(obo:DOID_0081452))
Declaration(Class(obo:DOID_0090001))
Declaration(Class(obo:DOID_0090002))
Declaration(Class(obo:DOID_0090003))
Expand Down Expand Up @@ -14124,7 +14125,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.or
AnnotationAssertion(rdfs:isDefinedBy obo:IAO_0000119 obo:iao.owl)
AnnotationAssertion(rdfs:label obo:IAO_0000119 "definition source")

# Annotation Property: obo:IAO_0000700 (has ontology root term)
# Annotation Property: obo:IAO_0000700 (has_ontology_root_term)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/IAO_0000700") obo:IAO_0000115 obo:IAO_0000700 "Has ontology root term.")
AnnotationAssertion(rdfs:label obo:IAO_0000700 "has_ontology_root_term")
Expand Down Expand Up @@ -24307,7 +24308,7 @@ SubClassOf(obo:DOID_0050744 obo:DOID_0060060)

# Class: obo:DOID_0050745 (diffuse large B-cell lymphoma)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma") Annotation(oboInOwl:hasDbXref "url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28487884") obo:IAO_0000115 obo:DOID_0050745 "A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma") Annotation(oboInOwl:hasDbXref "url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28487884") obo:IAO_0000115 obo:DOID_0050745 "A large B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body."@en)
AnnotationAssertion(oboInOwl:created_by obo:DOID_0050745 "lschriml")
AnnotationAssertion(oboInOwl:creation_date obo:DOID_0050745 "2012-09-18T01:58:25Z")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050745 "GARD:3178")
Expand All @@ -24321,7 +24322,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050745 doid:DO_cancer_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050745 doid:DO_rare_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050745 doid:NCIthesaurus)
AnnotationAssertion(rdfs:label obo:DOID_0050745 "diffuse large B-cell lymphoma"@en)
SubClassOf(obo:DOID_0050745 obo:DOID_707)
SubClassOf(obo:DOID_0050745 obo:DOID_0081452)

# Class: obo:DOID_0050746 (mantle cell lymphoma)

Expand Down Expand Up @@ -31967,7 +31968,7 @@ SubClassOf(obo:DOID_0060291 obo:DOID_225)

# Class: obo:DOID_0060292 (X-linked chondrodysplasia punctata 1)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata") obo:IAO_0000115 obo:DOID_0060292 "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in mutation in the ARSE gene on chromosome Xp22."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata") obo:IAO_0000115 obo:DOID_0060292 "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22."@en)
AnnotationAssertion(oboInOwl:created_by obo:DOID_0060292 "emitraka")
AnnotationAssertion(oboInOwl:creation_date obo:DOID_0060292 "2015-02-05T16:35:34Z")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060292 "ICD10CM:Q77.3")
Expand Down Expand Up @@ -50812,7 +50813,7 @@ SubClassOf(obo:DOID_0080209 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0080210 (primary mediastinal B-cell lymphoma)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28318892") obo:IAO_0000115 obo:DOID_0080210 "A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28318892") obo:IAO_0000115 obo:DOID_0080210 "A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080210 "ICD10CM:C85.2")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080210 "ORDO:98838")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080210 "Large cell lymphoma of the mediastinum"@en)
Expand All @@ -50823,7 +50824,7 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0080210 "DOID:0080210")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080210 doid:DO_cancer_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080210 doid:DO_rare_slim)
AnnotationAssertion(rdfs:label obo:DOID_0080210 "primary mediastinal B-cell lymphoma"@en)
SubClassOf(obo:DOID_0080210 obo:DOID_0050745)
SubClassOf(obo:DOID_0080210 obo:DOID_0081452)

# Class: obo:DOID_0080211 (nodal marginal zone lymphoma)

Expand Down Expand Up @@ -57195,7 +57196,7 @@ SubClassOf(obo:DOID_0080778 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0080779 (plasmablastic lymphoma)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/") obo:IAO_0000115 obo:DOID_0080779 "A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells."@en)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/") obo:IAO_0000115 obo:DOID_0080779 "A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080779 "ICDO:9735/3")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080779 "MESH:D000069293")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080779 "NCI:C7224")
Expand All @@ -57204,7 +57205,7 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0080779 "DOID:0080779")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080779 doid:DO_cancer_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080779 doid:NCIthesaurus)
AnnotationAssertion(rdfs:label obo:DOID_0080779 "plasmablastic lymphoma"@en)
SubClassOf(obo:DOID_0080779 obo:DOID_0050745)
SubClassOf(obo:DOID_0080779 obo:DOID_0081452)

# Class: obo:DOID_0080780 (acute erythroid leukemia)

Expand Down Expand Up @@ -59561,15 +59562,15 @@ SubClassOf(obo:DOID_0081003 obo:DOID_6457)

# Class: obo:DOID_0081004 (high-grade B-cell lymphoma double-hit/triple-hit)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29475959/") obo:IAO_0000115 obo:DOID_0081004 "A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes."@en)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29475959/") obo:IAO_0000115 obo:DOID_0081004 "A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081004 "NCI:C125904")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081004 "HGBL-DH/TH"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081004 "High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081004 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081004 "DOID:0081004")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0081004 doid:NCIthesaurus)
AnnotationAssertion(rdfs:label obo:DOID_0081004 "high-grade B-cell lymphoma double-hit/triple-hit"@en)
SubClassOf(obo:DOID_0081004 obo:DOID_707)
SubClassOf(obo:DOID_0081004 obo:DOID_0081452)

# Class: obo:DOID_0081005 (parsley allergy)

Expand Down Expand Up @@ -62747,14 +62748,14 @@ SubClassOf(obo:DOID_0081310 obo:DOID_0081307)

# Class: obo:DOID_0081311 (intravascular large B-cell lymphoma)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon") obo:IAO_0000115 obo:DOID_0081311 "A B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries."@en)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon") obo:IAO_0000115 obo:DOID_0081311 "A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081311 "ICDO:9712/3")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081311 "NCI:C4342")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081311 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081311 "DOID:0081311")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0081311 doid:NCIthesaurus)
AnnotationAssertion(rdfs:label obo:DOID_0081311 "intravascular large B-cell lymphoma"@en)
SubClassOf(obo:DOID_0081311 obo:DOID_707)
SubClassOf(obo:DOID_0081311 obo:DOID_0081452)

# Class: obo:DOID_0081312 (T-cell non-Hodgkin lymphoma)

Expand Down Expand Up @@ -64357,6 +64358,14 @@ AnnotationAssertion(rdfs:label obo:DOID_0081451 "PFAPA syndrome"@en)
SubClassOf(obo:DOID_0081451 obo:DOID_417)
SubClassOf(obo:DOID_0081451 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0011463))

# Class: obo:DOID_0081452 (large B-cell lymphoma)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37190213/") obo:IAO_0000115 obo:DOID_0081452 "A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081452 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081452 "DOID:0081452")
AnnotationAssertion(rdfs:label obo:DOID_0081452 "large B-cell lymphoma"@en)
SubClassOf(obo:DOID_0081452 obo:DOID_707)

# 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."@en)
Expand Down

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