diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 93b6106be..3b0bf4714 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -33950,8 +33950,8 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060413 "MESH:C567511") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060413 "OMIM:611867") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060413 "ORDO:261330") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060413 "22q11.2 deletion syndrome") -AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060413 "distal 22q11.2 microdeletion syndrome"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060413 "DiGeorge syndrome and Velocardiofacial syndrome") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060413 "distal 22q11.2 microdeletion syndrome"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060413 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0060413 "DOID:0060413") AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060413 doid:DO_rare_slim) @@ -35168,7 +35168,7 @@ SubClassOf(obo:DOID_0060484 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014 # Class: obo:DOID_0060485 (Mowat-Wilson syndrome) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17958891") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23466526") Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome") obo:IAO_0000115 obo:DOID_0060485 "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.") +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17958891") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23466526") obo:IAO_0000115 obo:DOID_0060485 "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060485 "GARD:9673") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060485 "MESH:C536990") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060485 "NCI:C74999") @@ -46718,9 +46718,9 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "UMLS_CUI:C5567227") SubClassOf(obo:DOID_0070474 obo:DOID_1289) SubClassOf(obo:DOID_0070474 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147)) -# Class: obo:DOID_0070475 (renal medullary carcinoma) +# Class: obo:DOID_0070475 (SMARCB1-deficient renal medullary carcinoma) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28697319/") obo:IAO_0000115 obo:DOID_0070475 "A renal cell carcinoma that develops in the renal medulla.") +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28697319/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35853783/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36645398/") obo:IAO_0000115 obo:DOID_0070475 "A renal cell carcinoma that develops in the renal medulla.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070475 "GARD:13175") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070475 "NCI:C7572") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070475 "ORDO:319319") @@ -46730,11 +46730,12 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "RMC") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "kidney medullary carcinoma") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "medullary carcinoma of the kidney") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "medullary renal cell carcinoma") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "renal medullary carcinoma") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070475 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0070475 "DOID:0070475") AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070475 doid:DO_cancer_slim) AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070475 doid:DO_rare_slim) -AnnotationAssertion(rdfs:label obo:DOID_0070475 "renal medullary carcinoma"@en) +AnnotationAssertion(rdfs:label obo:DOID_0070475 "SMARCB1-deficient renal medullary carcinoma"@en) AnnotationAssertion(skos:exactMatch obo:DOID_0070475 "GARD:13175") AnnotationAssertion(skos:exactMatch obo:DOID_0070475 "NCI:C7572") AnnotationAssertion(skos:exactMatch obo:DOID_0070475 "ORDO:319319") @@ -136478,7 +136479,7 @@ SubClassOf(obo:DOID_1927 obo:DOID_9455) # Class: obo:DOID_1928 (Williams-Beuren syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/williams-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1249/") Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome") obo:IAO_0000115 obo:DOID_1928 "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/williams-syndrome") Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1249/") obo:IAO_0000115 obo:DOID_1928 "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1928 "ICD10CM:Q93.82") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1928 "MESH:D018980") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1928 "NCI:C85232") @@ -199319,7 +199320,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_9241 "true"^^xsd:boolean) # Class: obo:DOID_9245 (Alagille syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts") Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome") obo:IAO_0000115 obo:DOID_9245 "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts") obo:IAO_0000115 obo:DOID_9245 "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9245 "GARD:804") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9245 "ICD10CM:Q44.7") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9245 "MESH:D016738")